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dbSNP Short Genetic Variations

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.

rs145955152

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:66704240 (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
G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000008 (2/264690, TOPMED)
C=0.00000 (0/14050, ALFA)
C=0.0003 (2/6404, 1000G_30x) (+ 1 more)
C=0.0002 (1/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SGIP1 : Intron 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 G=1.00000 C=0.00000
European Sub 9690 G=1.0000 C=0.0000
African Sub 2898 G=1.0000 C=0.0000
African Others Sub 114 G=1.000 C=0.000
African American Sub 2784 G=1.0000 C=0.0000
Asian Sub 112 G=1.000 C=0.000
East Asian Sub 86 G=1.00 C=0.00
Other Asian Sub 26 G=1.00 C=0.00
Latin American 1 Sub 146 G=1.000 C=0.000
Latin American 2 Sub 610 G=1.000 C=0.000
South Asian Sub 98 G=1.00 C=0.00
Other Sub 496 G=1.000 C=0.000


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 G=0.999992 C=0.000008
Allele Frequency Aggregator Total Global 14050 G=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 C=0.00
1000Genomes_30x Global Study-wide 6404 G=0.9997 C=0.0003
1000Genomes_30x African Sub 1786 G=1.0000 C=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9984 C=0.0016
1000Genomes_30x South Asian Sub 1202 G=1.0000 C=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 C=0.0000
1000Genomes_30x American Sub 980 G=1.000 C=0.000
1000Genomes Global Study-wide 5008 G=0.9998 C=0.0002
1000Genomes African Sub 1322 G=1.0000 C=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 C=0.0000
1000Genomes Europe Sub 1006 G=0.9990 C=0.0010
1000Genomes South Asian Sub 978 G=1.000 C=0.000
1000Genomes American Sub 694 G=1.000 C=0.000
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 1 NC_000001.11:g.66704240G>C
GRCh37.p13 chr 1 NC_000001.10:g.67169923G>C
Gene: SGIP1, SH3GL interacting endocytic adaptor 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SGIP1 transcript variant 2 NM_001308203.2:c.1039+973…

NM_001308203.2:c.1039+9736G>C

N/A Intron Variant
SGIP1 transcript variant 3 NM_001350217.2:c.1642+874…

NM_001350217.2:c.1642+8747G>C

N/A Intron Variant
SGIP1 transcript variant 4 NM_001350218.2:c.1057+874…

NM_001350218.2:c.1057+8747G>C

N/A Intron Variant
SGIP1 transcript variant 5 NM_001376534.1:c.1630+874…

NM_001376534.1:c.1630+8747G>C

N/A Intron Variant
SGIP1 transcript variant 6 NM_001376535.1:c.1630+874…

NM_001376535.1:c.1630+8747G>C

N/A Intron Variant
SGIP1 transcript variant 7 NM_001376536.1:c.1039+973…

NM_001376536.1:c.1039+9736G>C

N/A Intron Variant
SGIP1 transcript variant 8 NM_001376537.1:c.1624+874…

NM_001376537.1:c.1624+8747G>C

N/A Intron Variant
SGIP1 transcript variant 9 NM_001376538.1:c.1582+139…

NM_001376538.1:c.1582+13924G>C

N/A Intron Variant
SGIP1 transcript variant 10 NM_001376539.1:c.1570+139…

NM_001376539.1:c.1570+13924G>C

N/A Intron Variant
SGIP1 transcript variant 11 NM_001376540.1:c.1570+139…

NM_001376540.1:c.1570+13924G>C

N/A Intron Variant
SGIP1 transcript variant 12 NM_001376541.1:c.1558+874…

NM_001376541.1:c.1558+8747G>C

N/A Intron Variant
SGIP1 transcript variant 13 NM_001376542.1:c.1558+874…

NM_001376542.1:c.1558+8747G>C

N/A Intron Variant
SGIP1 transcript variant 14 NM_001376543.1:c.1558+874…

NM_001376543.1:c.1558+8747G>C

N/A Intron Variant
SGIP1 transcript variant 15 NM_001376544.1:c.1498+139…

NM_001376544.1:c.1498+13924G>C

N/A Intron Variant
SGIP1 transcript variant 16 NM_001376545.1:c.1498+139…

NM_001376545.1:c.1498+13924G>C

N/A Intron Variant
SGIP1 transcript variant 17 NM_001376546.1:c.1141+874…

NM_001376546.1:c.1141+8747G>C

N/A Intron Variant
SGIP1 transcript variant 18 NM_001376547.1:c.1111+973…

NM_001376547.1:c.1111+9736G>C

N/A Intron Variant
SGIP1 transcript variant 19 NM_001376548.1:c.1105+874…

NM_001376548.1:c.1105+8747G>C

N/A Intron Variant
SGIP1 transcript variant 20 NM_001376549.1:c.1105+874…

NM_001376549.1:c.1105+8747G>C

N/A Intron Variant
SGIP1 transcript variant 21 NM_001376550.1:c.1045+139…

NM_001376550.1:c.1045+13924G>C

N/A Intron Variant
SGIP1 transcript variant 22 NM_001376551.1:c.1033+874…

NM_001376551.1:c.1033+8747G>C

N/A Intron Variant
SGIP1 transcript variant 23 NM_001376552.1:c.1033+874…

NM_001376552.1:c.1033+8747G>C

N/A Intron Variant
SGIP1 transcript variant 24 NM_001376554.1:c.973+1392…

NM_001376554.1:c.973+13924G>C

N/A Intron Variant
SGIP1 transcript variant 25 NM_001376555.1:c.973+1392…

NM_001376555.1:c.973+13924G>C

N/A Intron Variant
SGIP1 transcript variant 1 NM_032291.4:c.1630+8747G>C N/A Intron Variant
SGIP1 transcript variant 26 NM_001376556.1:c. N/A Genic Downstream Transcript Variant
SGIP1 transcript variant 27 NM_001376557.1:c. N/A Genic Downstream Transcript Variant
SGIP1 transcript variant X26 XM_005271270.5:c.1033+874…

XM_005271270.5:c.1033+8747G>C

N/A Intron Variant
SGIP1 transcript variant X6 XM_006710961.3:c.1648+973…

XM_006710961.3:c.1648+9736G>C

N/A Intron Variant
SGIP1 transcript variant X12 XM_006710971.3:c.1147+973…

XM_006710971.3:c.1147+9736G>C

N/A Intron Variant
SGIP1 transcript variant X14 XM_006710973.3:c.1123+973…

XM_006710973.3:c.1123+9736G>C

N/A Intron Variant
SGIP1 transcript variant X13 XM_011542291.2:c.1126+874…

XM_011542291.2:c.1126+8747G>C

N/A Intron Variant
SGIP1 transcript variant X21 XM_011542292.2:c.1066+139…

XM_011542292.2:c.1066+13924G>C

N/A Intron Variant
SGIP1 transcript variant X1 XM_017002505.2:c.1696+874…

XM_017002505.2:c.1696+8747G>C

N/A Intron Variant
SGIP1 transcript variant X2 XM_017002506.2:c.1696+874…

XM_017002506.2:c.1696+8747G>C

N/A Intron Variant
SGIP1 transcript variant X3 XM_017002507.2:c.1693+874…

XM_017002507.2:c.1693+8747G>C

N/A Intron Variant
SGIP1 transcript variant X4 XM_017002508.2:c.1693+874…

XM_017002508.2:c.1693+8747G>C

N/A Intron Variant
SGIP1 transcript variant X5 XM_017002510.2:c.1672+874…

XM_017002510.2:c.1672+8747G>C

N/A Intron Variant
SGIP1 transcript variant X9 XM_017002515.2:c.1600+874…

XM_017002515.2:c.1600+8747G>C

N/A Intron Variant
SGIP1 transcript variant X10 XM_017002516.2:c.1600+874…

XM_017002516.2:c.1600+8747G>C

N/A Intron Variant
SGIP1 transcript variant X11 XM_017002524.2:c.1171+874…

XM_017002524.2:c.1171+8747G>C

N/A Intron Variant
SGIP1 transcript variant X19 XM_017002528.2:c.1099+874…

XM_017002528.2:c.1099+8747G>C

N/A Intron Variant
SGIP1 transcript variant X20 XM_017002529.2:c.1081+139…

XM_017002529.2:c.1081+13924G>C

N/A Intron Variant
SGIP1 transcript variant X7 XM_047432051.1:c.1624+874…

XM_047432051.1:c.1624+8747G>C

N/A Intron Variant
SGIP1 transcript variant X8 XM_047432052.1:c.1603+874…

XM_047432052.1:c.1603+8747G>C

N/A Intron Variant
SGIP1 transcript variant X15 XM_047432053.1:c.1117+874…

XM_047432053.1:c.1117+8747G>C

N/A Intron Variant
SGIP1 transcript variant X16 XM_047432054.1:c.1105+874…

XM_047432054.1:c.1105+8747G>C

N/A Intron Variant
SGIP1 transcript variant X17 XM_047432055.1:c.1105+874…

XM_047432055.1:c.1105+8747G>C

N/A Intron Variant
SGIP1 transcript variant X18 XM_047432056.1:c.1102+874…

XM_047432056.1:c.1102+8747G>C

N/A Intron Variant
SGIP1 transcript variant X22 XM_047432057.1:c.1057+139…

XM_047432057.1:c.1057+13924G>C

N/A Intron Variant
SGIP1 transcript variant X23 XM_047432058.1:c.1045+139…

XM_047432058.1:c.1045+13924G>C

N/A Intron Variant
SGIP1 transcript variant X24 XM_047432059.1:c.1045+139…

XM_047432059.1:c.1045+13924G>C

N/A Intron Variant
SGIP1 transcript variant X25 XM_047432060.1:c.1042+139…

XM_047432060.1:c.1042+13924G>C

N/A Intron Variant
SGIP1 transcript variant X28 XM_047432061.1:c. N/A Genic Downstream Transcript Variant
SGIP1 transcript variant X27 XR_007064415.1:n. N/A Intron 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.

Not Reported in ClinVar
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 G= C
GRCh38.p14 chr 1 NC_000001.11:g.66704240= NC_000001.11:g.66704240G>C
GRCh37.p13 chr 1 NC_000001.10:g.67169923= NC_000001.10:g.67169923G>C
SGIP1 transcript variant 2 NM_001308203.2:c.1039+9736= NM_001308203.2:c.1039+9736G>C
SGIP1 transcript variant 3 NM_001350217.2:c.1642+8747= NM_001350217.2:c.1642+8747G>C
SGIP1 transcript variant 4 NM_001350218.2:c.1057+8747= NM_001350218.2:c.1057+8747G>C
SGIP1 transcript variant 5 NM_001376534.1:c.1630+8747= NM_001376534.1:c.1630+8747G>C
SGIP1 transcript variant 6 NM_001376535.1:c.1630+8747= NM_001376535.1:c.1630+8747G>C
SGIP1 transcript variant 7 NM_001376536.1:c.1039+9736= NM_001376536.1:c.1039+9736G>C
SGIP1 transcript variant 8 NM_001376537.1:c.1624+8747= NM_001376537.1:c.1624+8747G>C
SGIP1 transcript variant 9 NM_001376538.1:c.1582+13924= NM_001376538.1:c.1582+13924G>C
SGIP1 transcript variant 10 NM_001376539.1:c.1570+13924= NM_001376539.1:c.1570+13924G>C
SGIP1 transcript variant 11 NM_001376540.1:c.1570+13924= NM_001376540.1:c.1570+13924G>C
SGIP1 transcript variant 12 NM_001376541.1:c.1558+8747= NM_001376541.1:c.1558+8747G>C
SGIP1 transcript variant 13 NM_001376542.1:c.1558+8747= NM_001376542.1:c.1558+8747G>C
SGIP1 transcript variant 14 NM_001376543.1:c.1558+8747= NM_001376543.1:c.1558+8747G>C
SGIP1 transcript variant 15 NM_001376544.1:c.1498+13924= NM_001376544.1:c.1498+13924G>C
SGIP1 transcript variant 16 NM_001376545.1:c.1498+13924= NM_001376545.1:c.1498+13924G>C
SGIP1 transcript variant 17 NM_001376546.1:c.1141+8747= NM_001376546.1:c.1141+8747G>C
SGIP1 transcript variant 18 NM_001376547.1:c.1111+9736= NM_001376547.1:c.1111+9736G>C
SGIP1 transcript variant 19 NM_001376548.1:c.1105+8747= NM_001376548.1:c.1105+8747G>C
SGIP1 transcript variant 20 NM_001376549.1:c.1105+8747= NM_001376549.1:c.1105+8747G>C
SGIP1 transcript variant 21 NM_001376550.1:c.1045+13924= NM_001376550.1:c.1045+13924G>C
SGIP1 transcript variant 22 NM_001376551.1:c.1033+8747= NM_001376551.1:c.1033+8747G>C
SGIP1 transcript variant 23 NM_001376552.1:c.1033+8747= NM_001376552.1:c.1033+8747G>C
SGIP1 transcript variant 24 NM_001376554.1:c.973+13924= NM_001376554.1:c.973+13924G>C
SGIP1 transcript variant 25 NM_001376555.1:c.973+13924= NM_001376555.1:c.973+13924G>C
SGIP1 transcript NM_032291.2:c.1630+8747= NM_032291.2:c.1630+8747G>C
SGIP1 transcript variant 1 NM_032291.4:c.1630+8747= NM_032291.4:c.1630+8747G>C
SGIP1 transcript variant X1 XM_005271262.1:c.1723+8747= XM_005271262.1:c.1723+8747G>C
SGIP1 transcript variant X2 XM_005271263.1:c.1723+8747= XM_005271263.1:c.1723+8747G>C
SGIP1 transcript variant X3 XM_005271264.1:c.1642+8747= XM_005271264.1:c.1642+8747G>C
SGIP1 transcript variant X4 XM_005271265.1:c.1612+9736= XM_005271265.1:c.1612+9736G>C
SGIP1 transcript variant X5 XM_005271266.1:c.1540+9736= XM_005271266.1:c.1540+9736G>C
SGIP1 transcript variant X6 XM_005271267.1:c.1111+9736= XM_005271267.1:c.1111+9736G>C
SGIP1 transcript variant X7 XM_005271268.1:c.1057+8747= XM_005271268.1:c.1057+8747G>C
SGIP1 transcript variant X8 XM_005271269.1:c.1039+9736= XM_005271269.1:c.1039+9736G>C
SGIP1 transcript variant X9 XM_005271270.1:c.1033+8747= XM_005271270.1:c.1033+8747G>C
SGIP1 transcript variant X26 XM_005271270.5:c.1033+8747= XM_005271270.5:c.1033+8747G>C
SGIP1 transcript variant X10 XM_005271271.1:c.1000+8747= XM_005271271.1:c.1000+8747G>C
SGIP1 transcript variant X6 XM_006710961.3:c.1648+9736= XM_006710961.3:c.1648+9736G>C
SGIP1 transcript variant X12 XM_006710971.3:c.1147+9736= XM_006710971.3:c.1147+9736G>C
SGIP1 transcript variant X14 XM_006710973.3:c.1123+9736= XM_006710973.3:c.1123+9736G>C
SGIP1 transcript variant X13 XM_011542291.2:c.1126+8747= XM_011542291.2:c.1126+8747G>C
SGIP1 transcript variant X21 XM_011542292.2:c.1066+13924= XM_011542292.2:c.1066+13924G>C
SGIP1 transcript variant X1 XM_017002505.2:c.1696+8747= XM_017002505.2:c.1696+8747G>C
SGIP1 transcript variant X2 XM_017002506.2:c.1696+8747= XM_017002506.2:c.1696+8747G>C
SGIP1 transcript variant X3 XM_017002507.2:c.1693+8747= XM_017002507.2:c.1693+8747G>C
SGIP1 transcript variant X4 XM_017002508.2:c.1693+8747= XM_017002508.2:c.1693+8747G>C
SGIP1 transcript variant X5 XM_017002510.2:c.1672+8747= XM_017002510.2:c.1672+8747G>C
SGIP1 transcript variant X9 XM_017002515.2:c.1600+8747= XM_017002515.2:c.1600+8747G>C
SGIP1 transcript variant X10 XM_017002516.2:c.1600+8747= XM_017002516.2:c.1600+8747G>C
SGIP1 transcript variant X11 XM_017002524.2:c.1171+8747= XM_017002524.2:c.1171+8747G>C
SGIP1 transcript variant X19 XM_017002528.2:c.1099+8747= XM_017002528.2:c.1099+8747G>C
SGIP1 transcript variant X20 XM_017002529.2:c.1081+13924= XM_017002529.2:c.1081+13924G>C
SGIP1 transcript variant X7 XM_047432051.1:c.1624+8747= XM_047432051.1:c.1624+8747G>C
SGIP1 transcript variant X8 XM_047432052.1:c.1603+8747= XM_047432052.1:c.1603+8747G>C
SGIP1 transcript variant X15 XM_047432053.1:c.1117+8747= XM_047432053.1:c.1117+8747G>C
SGIP1 transcript variant X16 XM_047432054.1:c.1105+8747= XM_047432054.1:c.1105+8747G>C
SGIP1 transcript variant X17 XM_047432055.1:c.1105+8747= XM_047432055.1:c.1105+8747G>C
SGIP1 transcript variant X18 XM_047432056.1:c.1102+8747= XM_047432056.1:c.1102+8747G>C
SGIP1 transcript variant X22 XM_047432057.1:c.1057+13924= XM_047432057.1:c.1057+13924G>C
SGIP1 transcript variant X23 XM_047432058.1:c.1045+13924= XM_047432058.1:c.1045+13924G>C
SGIP1 transcript variant X24 XM_047432059.1:c.1045+13924= XM_047432059.1:c.1045+13924G>C
SGIP1 transcript variant X25 XM_047432060.1:c.1042+13924= XM_047432060.1:c.1042+13924G>C
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#.

7 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss328666143 May 09, 2011 (134)
2 1000GENOMES ss1291217366 Aug 21, 2014 (142)
3 TOPMED ss4452598949 Apr 27, 2021 (155)
4 1000G_HIGH_COVERAGE ss5242551006 Oct 17, 2022 (156)
5 EVA ss5319246416 Oct 17, 2022 (156)
6 1000G_HIGH_COVERAGE ss5514969358 Oct 17, 2022 (156)
7 EVA ss5908586394 Oct 17, 2022 (156)
8 1000Genomes NC_000001.10 - 67169923 Oct 11, 2018 (152)
9 1000Genomes_30x NC_000001.11 - 66704240 Oct 17, 2022 (156)
10 TopMed NC_000001.11 - 66704240 Apr 27, 2021 (155)
11 ALFA NC_000001.11 - 66704240 Apr 27, 2021 (155)
Help

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
1947297, ss328666143, ss1291217366, ss5319246416 NC_000001.10:67169922:G:C NC_000001.11:66704239:G:C (self)
2495293, 16205284, 11268788853, ss4452598949, ss5242551006, ss5514969358, ss5908586394 NC_000001.11:66704239:G:C NC_000001.11:66704239:G:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs145955152

Help

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
Top Help

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.post774+babeb33