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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs199501110

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:94367857 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000189 (50/264690, TOPMED)
C=0.000104 (26/249146, GnomAD_exome)
C=0.000231 (45/194464, ALFA) (+ 5 more)
C=0.000128 (18/140242, GnomAD)
C=0.000116 (14/120724, ExAC)
C=0.00017 (2/11936, GO-ESP)
C=0.0003 (1/3854, ALSPAC)
C=0.0005 (2/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CEP83 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 210864 T=0.999777 C=0.000223
European Sub 180054 T=0.999756 C=0.000244
African Sub 9790 T=1.0000 C=0.0000
African Others Sub 360 T=1.000 C=0.000
African American Sub 9430 T=1.0000 C=0.0000
Asian Sub 3394 T=1.0000 C=0.0000
East Asian Sub 2712 T=1.0000 C=0.0000
Other Asian Sub 682 T=1.000 C=0.000
Latin American 1 Sub 796 T=1.000 C=0.000
Latin American 2 Sub 968 T=1.000 C=0.000
South Asian Sub 280 T=1.000 C=0.000
Other Sub 15582 T=0.99981 C=0.00019


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.999811 C=0.000189
gnomAD - Exomes Global Study-wide 249146 T=0.999896 C=0.000104
gnomAD - Exomes European Sub 134476 T=0.999851 C=0.000149
gnomAD - Exomes Asian Sub 48566 T=1.00000 C=0.00000
gnomAD - Exomes American Sub 34514 T=0.99997 C=0.00003
gnomAD - Exomes African Sub 15480 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10064 T=0.99950 C=0.00050
gnomAD - Exomes Other Sub 6046 T=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 194464 T=0.999769 C=0.000231
Allele Frequency Aggregator European Sub 169924 T=0.999753 C=0.000247
Allele Frequency Aggregator Other Sub 14148 T=0.99979 C=0.00021
Allele Frequency Aggregator African Sub 4954 T=1.0000 C=0.0000
Allele Frequency Aggregator Asian Sub 3394 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 968 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 796 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 280 T=1.000 C=0.000
gnomAD - Genomes Global Study-wide 140242 T=0.999872 C=0.000128
gnomAD - Genomes European Sub 75942 T=0.99982 C=0.00018
gnomAD - Genomes African Sub 42044 T=0.99995 C=0.00005
gnomAD - Genomes American Sub 13648 T=0.99985 C=0.00015
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 T=1.0000 C=0.0000
ExAC Global Study-wide 120724 T=0.999884 C=0.000116
ExAC Europe Sub 73328 T=0.99981 C=0.00019
ExAC Asian Sub 25132 T=1.00000 C=0.00000
ExAC American Sub 11574 T=1.00000 C=0.00000
ExAC African Sub 9790 T=1.0000 C=0.0000
ExAC Other Sub 900 T=1.000 C=0.000
GO Exome Sequencing Project Global Study-wide 11936 T=0.99983 C=0.00017
GO Exome Sequencing Project European American Sub 8216 T=0.9998 C=0.0002
GO Exome Sequencing Project African American Sub 3720 T=1.0000 C=0.0000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9997 C=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9995 C=0.0005
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 12 NC_000012.12:g.94367857T>C
GRCh37.p13 chr 12 NC_000012.11:g.94761633T>C
CEP83 RefSeqGene NG_051825.1:g.97132A>G
Gene: CEP83, centrosomal protein 83 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CEP83 transcript variant 6 NM_001346460.2:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 7 NM_001346461.2:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 8 NM_001346462.2:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 15 NM_001368042.1:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 10 NM_001368037.1:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001354966.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant 14 NM_001368041.1:c.1055A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform e NP_001354970.1:p.Glu352Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant 11 NM_001368038.1:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001354967.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant 12 NM_001368039.1:c.968A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001354968.1:p.Glu323Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant 13 NM_001368040.1:c.968A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001354969.1:p.Glu323Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant 1 NM_016122.3:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_057206.2:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant 3 NM_001346457.2:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001333386.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant 5 NM_001346459.2:c.968A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001333388.1:p.Glu323Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant 4 NM_001346458.2:c.968A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001333387.1:p.Glu323Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant 2 NM_001042399.2:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001035858.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant 17 NR_160432.1:n.2033A>G N/A Non Coding Transcript Variant
CEP83 transcript variant 16 NR_160431.1:n. N/A Intron Variant
CEP83 transcript variant 9 NR_144441.2:n. N/A Genic Downstream Transcript Variant
CEP83 transcript variant X3 XM_047428922.1:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_047284878.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X5 XM_011538424.3:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_011536726.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X7 XM_047428923.1:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_047284879.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X8 XM_017019385.3:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_016874874.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X9 XM_017019386.3:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_016874875.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X11 XM_017019389.3:c.893A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X2 XP_016874878.1:p.Glu298Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X12 XM_047428925.1:c.866A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284881.1:p.Glu289Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X13 XM_047428926.1:c.866A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284882.1:p.Glu289Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X14 XM_024449005.2:c.866A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_024304773.1:p.Glu289Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X15 XM_047428927.1:c.866A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284883.1:p.Glu289Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X16 XM_047428928.1:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X4 XP_047284884.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X17 XM_047428929.1:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X5 XP_047284885.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X18 XM_047428930.1:c.1280A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X5 XP_047284886.1:p.Glu427Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X19 XM_024449007.2:c.506A>G E [GAA] > G [GGA] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X6 XP_024304775.1:p.Glu169Gly E (Glu) > G (Gly) Missense Variant
CEP83 transcript variant X1 XR_007063080.1:n.1692A>G N/A Non Coding Transcript Variant
CEP83 transcript variant X2 XR_007063081.1:n.1692A>G N/A Non Coding Transcript Variant
CEP83 transcript variant X4 XR_007063082.1:n.1692A>G N/A Non Coding Transcript Variant
CEP83 transcript variant X6 XR_007063083.1:n.1692A>G N/A Non Coding Transcript Variant
CEP83 transcript variant X10 XR_007063084.1:n.1692A>G N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C (allele ID: 948238 )
ClinVar Accession Disease Names Clinical Significance
RCV001226617.3 Nephronophthisis 18 Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C
GRCh38.p14 chr 12 NC_000012.12:g.94367857= NC_000012.12:g.94367857T>C
GRCh37.p13 chr 12 NC_000012.11:g.94761633= NC_000012.11:g.94761633T>C
CEP83 RefSeqGene NG_051825.1:g.97132= NG_051825.1:g.97132A>G
CEP83 transcript variant 1 NM_016122.3:c.1280= NM_016122.3:c.1280A>G
CEP83 transcript variant 1 NM_016122.2:c.1280= NM_016122.2:c.1280A>G
CEP83 transcript variant 2 NM_001042399.2:c.1280= NM_001042399.2:c.1280A>G
CEP83 transcript variant 2 NM_001042399.1:c.1280= NM_001042399.1:c.1280A>G
CEP83 transcript variant 4 NM_001346458.2:c.968= NM_001346458.2:c.968A>G
CEP83 transcript variant 4 NM_001346458.1:c.968= NM_001346458.1:c.968A>G
CEP83 transcript variant 5 NM_001346459.2:c.968= NM_001346459.2:c.968A>G
CEP83 transcript variant 5 NM_001346459.1:c.968= NM_001346459.1:c.968A>G
CEP83 transcript variant 3 NM_001346457.2:c.1280= NM_001346457.2:c.1280A>G
CEP83 transcript variant 3 NM_001346457.1:c.1280= NM_001346457.1:c.1280A>G
CEP83 transcript variant 17 NR_160432.1:n.2033= NR_160432.1:n.2033A>G
CEP83 transcript variant 10 NM_001368037.1:c.1280= NM_001368037.1:c.1280A>G
CEP83 transcript variant 11 NM_001368038.1:c.1280= NM_001368038.1:c.1280A>G
CEP83 transcript variant 12 NM_001368039.1:c.968= NM_001368039.1:c.968A>G
CEP83 transcript variant 14 NM_001368041.1:c.1055= NM_001368041.1:c.1055A>G
CEP83 transcript variant 13 NM_001368040.1:c.968= NM_001368040.1:c.968A>G
CEP83 transcript variant X9 XM_017019386.3:c.1280= XM_017019386.3:c.1280A>G
CEP83 transcript variant X9 XM_017019386.2:c.1280= XM_017019386.2:c.1280A>G
CEP83 transcript variant X9 XM_017019386.1:c.1280= XM_017019386.1:c.1280A>G
CEP83 transcript variant X5 XM_011538424.3:c.1280= XM_011538424.3:c.1280A>G
CEP83 transcript variant X1 XM_011538424.2:c.1280= XM_011538424.2:c.1280A>G
CEP83 transcript variant X2 XM_011538424.1:c.1280= XM_011538424.1:c.1280A>G
CEP83 transcript variant X11 XM_017019389.3:c.893= XM_017019389.3:c.893A>G
CEP83 transcript variant X15 XM_017019389.2:c.893= XM_017019389.2:c.893A>G
CEP83 transcript variant X15 XM_017019389.1:c.893= XM_017019389.1:c.893A>G
CEP83 transcript variant X8 XM_017019385.3:c.1280= XM_017019385.3:c.1280A>G
CEP83 transcript variant X8 XM_017019385.2:c.1280= XM_017019385.2:c.1280A>G
CEP83 transcript variant X8 XM_017019385.1:c.1280= XM_017019385.1:c.1280A>G
CEP83 transcript variant X14 XM_024449005.2:c.866= XM_024449005.2:c.866A>G
CEP83 transcript variant X16 XM_024449005.1:c.866= XM_024449005.1:c.866A>G
CEP83 transcript variant X19 XM_024449007.2:c.506= XM_024449007.2:c.506A>G
CEP83 transcript variant X20 XM_024449007.1:c.506= XM_024449007.1:c.506A>G
CEP83 transcript variant X7 XM_047428923.1:c.1280= XM_047428923.1:c.1280A>G
CEP83 transcript variant X3 XM_047428922.1:c.1280= XM_047428922.1:c.1280A>G
CEP83 transcript variant X4 XR_007063082.1:n.1692= XR_007063082.1:n.1692A>G
CEP83 transcript variant X12 XM_047428925.1:c.866= XM_047428925.1:c.866A>G
CEP83 transcript variant X15 XM_047428927.1:c.866= XM_047428927.1:c.866A>G
CEP83 transcript variant X13 XM_047428926.1:c.866= XM_047428926.1:c.866A>G
CEP83 transcript variant X1 XR_007063080.1:n.1692= XR_007063080.1:n.1692A>G
CEP83 transcript variant X6 XR_007063083.1:n.1692= XR_007063083.1:n.1692A>G
CEP83 transcript variant X2 XR_007063081.1:n.1692= XR_007063081.1:n.1692A>G
CEP83 transcript variant X10 XR_007063084.1:n.1692= XR_007063084.1:n.1692A>G
CEP83 transcript variant X16 XM_047428928.1:c.1280= XM_047428928.1:c.1280A>G
CEP83 transcript variant X18 XM_047428930.1:c.1280= XM_047428930.1:c.1280A>G
CEP83 transcript variant X17 XM_047428929.1:c.1280= XM_047428929.1:c.1280A>G
centrosomal protein of 83 kDa isoform a NP_057206.2:p.Glu427= NP_057206.2:p.Glu427Gly
centrosomal protein of 83 kDa isoform a NP_001035858.1:p.Glu427= NP_001035858.1:p.Glu427Gly
centrosomal protein of 83 kDa isoform b NP_001333387.1:p.Glu323= NP_001333387.1:p.Glu323Gly
centrosomal protein of 83 kDa isoform b NP_001333388.1:p.Glu323= NP_001333388.1:p.Glu323Gly
centrosomal protein of 83 kDa isoform a NP_001333386.1:p.Glu427= NP_001333386.1:p.Glu427Gly
centrosomal protein of 83 kDa isoform a NP_001354966.1:p.Glu427= NP_001354966.1:p.Glu427Gly
centrosomal protein of 83 kDa isoform a NP_001354967.1:p.Glu427= NP_001354967.1:p.Glu427Gly
centrosomal protein of 83 kDa isoform b NP_001354968.1:p.Glu323= NP_001354968.1:p.Glu323Gly
centrosomal protein of 83 kDa isoform e NP_001354970.1:p.Glu352= NP_001354970.1:p.Glu352Gly
centrosomal protein of 83 kDa isoform b NP_001354969.1:p.Glu323= NP_001354969.1:p.Glu323Gly
centrosomal protein of 83 kDa isoform X1 XP_016874875.1:p.Glu427= XP_016874875.1:p.Glu427Gly
centrosomal protein of 83 kDa isoform X1 XP_011536726.1:p.Glu427= XP_011536726.1:p.Glu427Gly
centrosomal protein of 83 kDa isoform X2 XP_016874878.1:p.Glu298= XP_016874878.1:p.Glu298Gly
centrosomal protein of 83 kDa isoform X1 XP_016874874.1:p.Glu427= XP_016874874.1:p.Glu427Gly
centrosomal protein of 83 kDa isoform X3 XP_024304773.1:p.Glu289= XP_024304773.1:p.Glu289Gly
centrosomal protein of 83 kDa isoform X6 XP_024304775.1:p.Glu169= XP_024304775.1:p.Glu169Gly
centrosomal protein of 83 kDa isoform X1 XP_047284879.1:p.Glu427= XP_047284879.1:p.Glu427Gly
centrosomal protein of 83 kDa isoform X1 XP_047284878.1:p.Glu427= XP_047284878.1:p.Glu427Gly
centrosomal protein of 83 kDa isoform X3 XP_047284881.1:p.Glu289= XP_047284881.1:p.Glu289Gly
centrosomal protein of 83 kDa isoform X3 XP_047284883.1:p.Glu289= XP_047284883.1:p.Glu289Gly
centrosomal protein of 83 kDa isoform X3 XP_047284882.1:p.Glu289= XP_047284882.1:p.Glu289Gly
centrosomal protein of 83 kDa isoform X4 XP_047284884.1:p.Glu427= XP_047284884.1:p.Glu427Gly
centrosomal protein of 83 kDa isoform X5 XP_047284886.1:p.Glu427= XP_047284886.1:p.Glu427Gly
centrosomal protein of 83 kDa isoform X5 XP_047284885.1:p.Glu427= XP_047284885.1:p.Glu427Gly
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

29 SubSNP, 8 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EXOME_CHIP ss491471953 May 04, 2012 (137)
2 NHLBI-ESP ss713110542 Apr 25, 2013 (138)
3 ILLUMINA ss783365046 Sep 08, 2015 (146)
4 EVA_UK10K_ALSPAC ss1629197741 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1672191774 Apr 01, 2015 (144)
6 EVA_EXAC ss1691047482 Apr 01, 2015 (144)
7 ILLUMINA ss1752086783 Sep 08, 2015 (146)
8 ILLUMINA ss1917877272 Feb 12, 2016 (147)
9 ILLUMINA ss1946346311 Feb 12, 2016 (147)
10 ILLUMINA ss1959456455 Feb 12, 2016 (147)
11 HUMAN_LONGEVITY ss2192239808 Dec 20, 2016 (150)
12 GNOMAD ss2740037113 Nov 08, 2017 (151)
13 GNOMAD ss2748931899 Nov 08, 2017 (151)
14 GNOMAD ss2913887313 Nov 08, 2017 (151)
15 AFFY ss2984987306 Nov 08, 2017 (151)
16 ILLUMINA ss3021454672 Nov 08, 2017 (151)
17 ILLUMINA ss3634517686 Oct 12, 2018 (152)
18 ILLUMINA ss3640225019 Oct 12, 2018 (152)
19 ILLUMINA ss3644599306 Oct 12, 2018 (152)
20 ILLUMINA ss3651835926 Oct 12, 2018 (152)
21 ILLUMINA ss3653756969 Oct 12, 2018 (152)
22 ILLUMINA ss3725346799 Jul 13, 2019 (153)
23 ILLUMINA ss3744399397 Jul 13, 2019 (153)
24 ILLUMINA ss3744818487 Jul 13, 2019 (153)
25 ILLUMINA ss3772317741 Jul 13, 2019 (153)
26 EVA ss3824757714 Apr 27, 2020 (154)
27 TOPMED ss4928811688 Apr 27, 2021 (155)
28 EVA ss5847679134 Oct 16, 2022 (156)
29 EVA ss5945123116 Oct 16, 2022 (156)
30 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 94761633 Oct 12, 2018 (152)
31 ExAC NC_000012.11 - 94761633 Oct 12, 2018 (152)
32 gnomAD - Genomes NC_000012.12 - 94367857 Apr 27, 2021 (155)
33 gnomAD - Exomes NC_000012.11 - 94761633 Jul 13, 2019 (153)
34 GO Exome Sequencing Project NC_000012.11 - 94761633 Oct 12, 2018 (152)
35 TopMed NC_000012.12 - 94367857 Apr 27, 2021 (155)
36 UK 10K study - Twins NC_000012.11 - 94761633 Oct 12, 2018 (152)
37 ALFA NC_000012.12 - 94367857 Apr 27, 2021 (155)
38 ClinVar RCV001226617.3 Oct 16, 2022 (156)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
32743150, 1356247, 9272410, 1215164, 32743150, ss491471953, ss713110542, ss783365046, ss1629197741, ss1672191774, ss1691047482, ss1752086783, ss1917877272, ss1946346311, ss1959456455, ss2740037113, ss2748931899, ss2913887313, ss2984987306, ss3021454672, ss3634517686, ss3640225019, ss3644599306, ss3651835926, ss3653756969, ss3744399397, ss3744818487, ss3772317741, ss3824757714, ss5847679134, ss5945123116 NC_000012.11:94761632:T:C NC_000012.12:94367856:T:C (self)
RCV001226617.3, 416030428, 144357345, 5118426093, ss2192239808, ss3725346799, ss4928811688 NC_000012.12:94367856:T:C NC_000012.12:94367856:T:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs199501110

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07