Name: rs6672018
Published: September 21, 2022
License: Open Access

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.

rs6672018

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:113788693 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.420027 (111177/264690, TOPMED)
T=0.40452 (15828/39128, ALFA)
C=0.24714 (4142/16760, 8.3KJPN) (+ 15 more)
T=0.4533 (2903/6404, 1000G_30x)
T=0.4603 (2305/5008, 1000G)
T=0.4406 (1974/4480, Estonian)
T=0.4258 (1641/3854, ALSPAC)
T=0.4239 (1572/3708, TWINSUK)
C=0.1816 (532/2930, KOREAN)
T=0.4687 (883/1884, HapMap)
C=0.1621 (297/1832, Korea1K)
T=0.429 (428/998, GoNL)
T=0.468 (281/600, NorthernSweden)
C=0.270 (106/392, SGDP_PRJ)
T=0.435 (94/216, Qatari)
C=0.266 (57/214, Vietnamese)
C=0.38 (16/42, Siberian)
T=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RSBN1 : 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	39128	C=0.59548	A=0.00000, T=0.40452
European	Sub	27280	C=0.60084	A=0.00000, T=0.39916
African	Sub	3630	C=0.8397	A=0.0000, T=0.1603
African Others	Sub	136	C=0.890	A=0.000, T=0.110
African American	Sub	3494	C=0.8377	A=0.0000, T=0.1623
Asian	Sub	336	C=0.182	A=0.000, T=0.818
East Asian	Sub	290	C=0.166	A=0.000, T=0.834
Other Asian	Sub	46	C=0.28	A=0.00, T=0.72
Latin American 1	Sub	476	C=0.637	A=0.000, T=0.363
Latin American 2	Sub	4382	C=0.3886	A=0.0000, T=0.6114
South Asian	Sub	110	C=0.800	A=0.000, T=0.200
Other	Sub	2914	C=0.5854	A=0.0000, T=0.4146

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.579973	T=0.420027
Allele Frequency Aggregator	Total	Global	39128	C=0.59548	A=0.00000, T=0.40452
Allele Frequency Aggregator	European	Sub	27280	C=0.60084	A=0.00000, T=0.39916
Allele Frequency Aggregator	Latin American 2	Sub	4382	C=0.3886	A=0.0000, T=0.6114
Allele Frequency Aggregator	African	Sub	3630	C=0.8397	A=0.0000, T=0.1603
Allele Frequency Aggregator	Other	Sub	2914	C=0.5854	A=0.0000, T=0.4146
Allele Frequency Aggregator	Latin American 1	Sub	476	C=0.637	A=0.000, T=0.363
Allele Frequency Aggregator	Asian	Sub	336	C=0.182	A=0.000, T=0.818
Allele Frequency Aggregator	South Asian	Sub	110	C=0.800	A=0.000, T=0.200
8.3KJPN	JAPANESE	Study-wide	16760	C=0.24714	T=0.75286
1000Genomes_30x	Global	Study-wide	6404	C=0.5467	T=0.4533
1000Genomes_30x	African	Sub	1786	C=0.7620	T=0.2380
1000Genomes_30x	Europe	Sub	1266	C=0.5521	T=0.4479
1000Genomes_30x	South Asian	Sub	1202	C=0.6722	T=0.3278
1000Genomes_30x	East Asian	Sub	1170	C=0.1812	T=0.8188
1000Genomes_30x	American	Sub	980	C=0.430	T=0.570
1000Genomes	Global	Study-wide	5008	C=0.5397	T=0.4603
1000Genomes	African	Sub	1322	C=0.7564	T=0.2436
1000Genomes	East Asian	Sub	1008	C=0.1825	T=0.8175
1000Genomes	Europe	Sub	1006	C=0.5537	T=0.4463
1000Genomes	South Asian	Sub	978	C=0.677	T=0.323
1000Genomes	American	Sub	694	C=0.432	T=0.568
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5594	T=0.4406
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5742	T=0.4258
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5761	T=0.4239
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.1816	A=0.0000, G=0.0000, T=0.8184
HapMap	Global	Study-wide	1884	C=0.5313	T=0.4687
HapMap	American	Sub	762	C=0.482	T=0.518
HapMap	African	Sub	692	C=0.705	T=0.295
HapMap	Asian	Sub	254	C=0.193	T=0.807
HapMap	Europe	Sub	176	C=0.551	T=0.449
Korean Genome Project	KOREAN	Study-wide	1832	C=0.1621	T=0.8379
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.571	T=0.429
Northern Sweden	ACPOP	Study-wide	600	C=0.532	T=0.468
SGDP_PRJ	Global	Study-wide	392	C=0.270	T=0.730
Qatari	Global	Study-wide	216	C=0.565	T=0.435
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.266	T=0.734
Siberian	Global	Study-wide	42	C=0.38	T=0.62
The Danish reference pan genome	Danish	Study-wide	40	C=0.55	T=0.45

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.113788693C>A
GRCh38.p14 chr 1	NC_000001.11:g.113788693C>G
GRCh38.p14 chr 1	NC_000001.11:g.113788693C>T
GRCh37.p13 chr 1	NC_000001.10:g.114331315C>A
GRCh37.p13 chr 1	NC_000001.10:g.114331315C>G
GRCh37.p13 chr 1	NC_000001.10:g.114331315C>T

Gene: RSBN1, round spermatid basic protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RSBN1 transcript variant 1	NM_018364.5:c.1377+8670G>T	N/A	Intron Variant
RSBN1 transcript variant 2	NR_130896.2:n.	N/A	Intron Variant
RSBN1 transcript variant X1	XM_017001518.3:c.*7608=	N/A	3 Prime UTR Variant

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

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	C=	A	G	T
GRCh38.p14 chr 1	NC_000001.11:g.113788693=	NC_000001.11:g.113788693C>A	NC_000001.11:g.113788693C>G	NC_000001.11:g.113788693C>T
GRCh37.p13 chr 1	NC_000001.10:g.114331315=	NC_000001.10:g.114331315C>A	NC_000001.10:g.114331315C>G	NC_000001.10:g.114331315C>T
RSBN1 transcript variant X1	XM_017001518.3:c.*7608=	XM_017001518.3:c.*7608G>T	XM_017001518.3:c.*7608G>C	XM_017001518.3:c.*7608G>A
RSBN1 transcript variant X1	XM_017001518.2:c.*7608=	XM_017001518.2:c.*7608G>T	XM_017001518.2:c.*7608G>C	XM_017001518.2:c.*7608G>A
RSBN1 transcript variant X1	XM_017001518.1:c.*7608=	XM_017001518.1:c.*7608G>T	XM_017001518.1:c.*7608G>C	XM_017001518.1:c.*7608G>A
RSBN1 transcript	NM_018364.3:c.1377+8670=	NM_018364.3:c.1377+8670G>T	NM_018364.3:c.1377+8670G>C	NM_018364.3:c.1377+8670G>A
RSBN1 transcript variant 1	NM_018364.5:c.1377+8670=	NM_018364.5:c.1377+8670G>T	NM_018364.5:c.1377+8670G>C	NM_018364.5:c.1377+8670G>A

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#.

74 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss9840276	Jul 11, 2003 (116)
2	PERLEGEN	ss24255208	Sep 20, 2004 (123)
3	ILLUMINA	ss75179423	Dec 05, 2007 (129)
4	BCMHGSC_JDW	ss87727331	Mar 23, 2008 (129)
5	1000GENOMES	ss108537550	Jan 23, 2009 (130)
6	KRIBB_YJKIM	ss119520120	Dec 01, 2009 (131)
7	ENSEMBL	ss138063468	Dec 01, 2009 (131)
8	GMI	ss155552752	Dec 01, 2009 (131)
9	ILLUMINA	ss160796373	Dec 01, 2009 (131)
10	COMPLETE_GENOMICS	ss165059771	Jul 04, 2010 (132)
11	1000GENOMES	ss218606339	Jul 14, 2010 (132)
12	1000GENOMES	ss230698709	Jul 14, 2010 (132)
13	1000GENOMES	ss238354969	Jul 15, 2010 (132)
14	GMI	ss275984745	May 04, 2012 (137)
15	GMI	ss284124201	Apr 25, 2013 (138)
16	PJP	ss290602320	May 09, 2011 (134)
17	ILLUMINA	ss482319330	Sep 08, 2015 (146)
18	TISHKOFF	ss554594949	Apr 25, 2013 (138)
19	SSMP	ss648324145	Apr 25, 2013 (138)
20	EVA-GONL	ss975588223	Aug 21, 2014 (142)
21	JMKIDD_LAB	ss1068206056	Aug 21, 2014 (142)
22	1000GENOMES	ss1292501140	Aug 21, 2014 (142)
23	DDI	ss1425942552	Apr 01, 2015 (144)
24	EVA_GENOME_DK	ss1574334355	Apr 01, 2015 (144)
25	EVA_DECODE	ss1584969093	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1601026778	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1644020811	Apr 01, 2015 (144)
28	EVA_SVP	ss1712364453	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1794958449	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1918788440	Feb 12, 2016 (147)
31	GENOMED	ss1966845468	Jul 19, 2016 (147)
32	JJLAB	ss2019918624	Sep 14, 2016 (149)
33	ILLUMINA	ss2094847267	Dec 20, 2016 (150)
34	ILLUMINA	ss2094972677	Dec 20, 2016 (150)
35	USC_VALOUEV	ss2147937439	Dec 20, 2016 (150)
36	HUMAN_LONGEVITY	ss2165855494	Dec 20, 2016 (150)
37	SYSTEMSBIOZJU	ss2624468977	Nov 08, 2017 (151)
38	GRF	ss2697867770	Nov 08, 2017 (151)
39	GNOMAD	ss2759757493	Nov 08, 2017 (151)
40	SWEGEN	ss2987466939	Nov 08, 2017 (151)
41	BIOINF_KMB_FNS_UNIBA	ss3023723860	Nov 08, 2017 (151)
42	CSHL	ss3343643088	Nov 08, 2017 (151)
43	ILLUMINA	ss3636022368	Oct 11, 2018 (152)
44	ILLUMINA	ss3642790859	Oct 11, 2018 (152)
45	ILLUMINA	ss3651455387	Oct 11, 2018 (152)
46	EGCUT_WGS	ss3655555854	Jul 12, 2019 (153)
47	EVA_DECODE	ss3687564830	Jul 12, 2019 (153)
48	ACPOP	ss3727403533	Jul 12, 2019 (153)
49	EVA	ss3746693284	Jul 12, 2019 (153)
50	PACBIO	ss3783524524	Jul 12, 2019 (153)
51	PACBIO	ss3789165556	Jul 12, 2019 (153)
52	PACBIO	ss3794038489	Jul 12, 2019 (153)
53	KHV_HUMAN_GENOMES	ss3799695999	Jul 12, 2019 (153)
54	EVA	ss3826379009	Apr 25, 2020 (154)
55	EVA	ss3836581198	Apr 25, 2020 (154)
56	EVA	ss3841989643	Apr 25, 2020 (154)
57	SGDP_PRJ	ss3849685529	Apr 25, 2020 (154)
58	KRGDB	ss3894784297	Apr 25, 2020 (154)
59	KOGIC	ss3945282677	Apr 25, 2020 (154)
60	TOPMED	ss4464214248	Apr 25, 2021 (155)
61	TOMMO_GENOMICS	ss5145759641	Apr 25, 2021 (155)
62	1000G_HIGH_COVERAGE	ss5243669071	Oct 12, 2022 (156)
63	EVA	ss5321293364	Oct 12, 2022 (156)
64	HUGCELL_USP	ss5444586494	Oct 12, 2022 (156)
65	EVA	ss5506002917	Oct 12, 2022 (156)
66	1000G_HIGH_COVERAGE	ss5516693111	Oct 12, 2022 (156)
67	SANFORD_IMAGENETICS	ss5626332267	Oct 12, 2022 (156)
68	TOMMO_GENOMICS	ss5671051831	Oct 12, 2022 (156)
69	TOMMO_GENOMICS	ss5671051832	Oct 12, 2022 (156)
70	YY_MCH	ss5800946671	Oct 12, 2022 (156)
71	EVA	ss5832507220	Oct 12, 2022 (156)
72	EVA	ss5849074878	Oct 12, 2022 (156)
73	EVA	ss5909869575	Oct 12, 2022 (156)
74	EVA	ss5938200002	Oct 12, 2022 (156)
75	1000Genomes	NC_000001.10 - 114331315	Oct 11, 2018 (152)
76	1000Genomes_30x	NC_000001.11 - 113788693	Oct 12, 2022 (156)
77	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 114331315	Oct 11, 2018 (152)
78	Genetic variation in the Estonian population	NC_000001.10 - 114331315	Oct 11, 2018 (152)
79	The Danish reference pan genome	NC_000001.10 - 114331315	Apr 25, 2020 (154)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23197421 (NC_000001.11:113788692:C:A 2/139882) Row 23197422 (NC_000001.11:113788692:C:T 57323/139798)	-	Apr 25, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23197421 (NC_000001.11:113788692:C:A 2/139882) Row 23197422 (NC_000001.11:113788692:C:T 57323/139798)	-	Apr 25, 2021 (155)
82	Genome of the Netherlands Release 5	NC_000001.10 - 114331315	Apr 25, 2020 (154)
83	HapMap	NC_000001.11 - 113788693	Apr 25, 2020 (154)
84	KOREAN population from KRGDB	NC_000001.10 - 114331315	Apr 25, 2020 (154)
85	Korean Genome Project	NC_000001.11 - 113788693	Apr 25, 2020 (154)
86	Northern Sweden	NC_000001.10 - 114331315	Jul 12, 2019 (153)
87	Qatari	NC_000001.10 - 114331315	Apr 25, 2020 (154)
88	SGDP_PRJ	NC_000001.10 - 114331315	Apr 25, 2020 (154)
89	Siberian	NC_000001.10 - 114331315	Apr 25, 2020 (154)
90	8.3KJPN	NC_000001.10 - 114331315	Apr 25, 2021 (155)
91	14KJPN Submission ignored due to conflicting rows: Row 4888935 (NC_000001.11:113788692:C:T 21349/28256) Row 4888936 (NC_000001.11:113788692:C:A 2/28256)	-	Oct 12, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 4888935 (NC_000001.11:113788692:C:T 21349/28256) Row 4888936 (NC_000001.11:113788692:C:A 2/28256)	-	Oct 12, 2022 (156)
93	TopMed	NC_000001.11 - 113788693	Apr 25, 2021 (155)
94	UK 10K study - Twins	NC_000001.10 - 114331315	Oct 11, 2018 (152)
95	A Vietnamese Genetic Variation Database	NC_000001.10 - 114331315	Jul 12, 2019 (153)
96	ALFA	NC_000001.11 - 113788693	Apr 25, 2021 (155)

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).

Associated ID	History Updated (Build)
rs17462782	Oct 07, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1961691, ss3894784297	NC_000001.10:114331314:C:A	NC_000001.11:113788692:C:A	(self)
391570074, ss5671051832	NC_000001.11:113788692:C:A	NC_000001.11:113788692:C:A	(self)
1961691, ss3894784297	NC_000001.10:114331314:C:G	NC_000001.11:113788692:C:G	(self)
ss87727331, ss108537550, ss165059771, ss275984745, ss284124201, ss290602320, ss1584969093, ss1712364453, ss2094847267, ss3642790859	NC_000001.9:114132837:C:T	NC_000001.11:113788692:C:T	(self)
3279523, 1814372, 1294102, 1671856, 789038, 1961691, 688398, 830370, 1702509, 453793, 3728948, 1814372, 392833, ss218606339, ss230698709, ss238354969, ss482319330, ss554594949, ss648324145, ss975588223, ss1068206056, ss1292501140, ss1425942552, ss1574334355, ss1601026778, ss1644020811, ss1794958449, ss1918788440, ss1966845468, ss2019918624, ss2094972677, ss2147937439, ss2624468977, ss2697867770, ss2759757493, ss2987466939, ss3343643088, ss3636022368, ss3651455387, ss3655555854, ss3727403533, ss3746693284, ss3783524524, ss3789165556, ss3794038489, ss3826379009, ss3836581198, ss3849685529, ss3894784297, ss5145759641, ss5321293364, ss5506002917, ss5626332267, ss5832507220, ss5938200002	NC_000001.10:114331314:C:T	NC_000001.11:113788692:C:T	(self)
4219046, 158447, 1660678, 27820583, 391570074, ss2165855494, ss3023723860, ss3687564830, ss3799695999, ss3841989643, ss3945282677, ss4464214248, ss5243669071, ss5444586494, ss5516693111, ss5671051831, ss5800946671, ss5849074878, ss5909869575	NC_000001.11:113788692:C:T	NC_000001.11:113788692:C:T	(self)
ss9840276	NT_019273.15:4767118:C:T	NC_000001.11:113788692:C:T	(self)
ss24255208, ss75179423, ss119520120, ss138063468, ss155552752, ss160796373	NT_032977.9:84303232:C:T	NC_000001.11:113788692:C:T	(self)

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

No publications for rs6672018

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6672018