Name: rs237213
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.

rs237213

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:6400904 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.241116 (63821/264690, TOPMED)
G=0.11826 (1982/16760, 8.3KJPN)
G=0.12835 (1753/13658, ALFA) (+ 14 more)
G=0.2097 (1343/6404, 1000G_30x)
G=0.2079 (1041/5008, 1000G)
G=0.2455 (1100/4480, Estonian)
G=0.1160 (340/2930, KOREAN)
G=0.1010 (185/1832, Korea1K)
G=0.2042 (232/1136, Daghestan)
G=0.254 (253/998, GoNL)
G=0.248 (149/600, NorthernSweden)
G=0.197 (65/330, HapMap)
G=0.185 (40/216, Qatari)
G=0.187 (40/214, Vietnamese)
C=0.422 (70/166, SGDP_PRJ)
G=0.17 (7/40, GENOME_DK)
C=0.46 (11/24, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: L3MBTL4 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	13658	C=0.87165	G=0.12835, T=0.00000
European	Sub	10774	C=0.84481	G=0.15519, T=0.00000
African	Sub	1754	C=0.9857	G=0.0143, T=0.0000
African Others	Sub	62	C=0.98	G=0.02, T=0.00
African American	Sub	1692	C=0.9858	G=0.0142, T=0.0000
Asian	Sub	72	C=1.00	G=0.00, T=0.00
East Asian	Sub	54	C=1.00	G=0.00, T=0.00
Other Asian	Sub	18	C=1.00	G=0.00, T=0.00
Latin American 1	Sub	84	C=1.00	G=0.00, T=0.00
Latin American 2	Sub	410	C=1.000	G=0.000, T=0.000
South Asian	Sub	66	C=0.98	G=0.02, T=0.00
Other	Sub	498	C=0.890	G=0.110, T=0.000

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=0.758884	G=0.241116
8.3KJPN	JAPANESE	Study-wide	16760	C=0.88174	G=0.11826
Allele Frequency Aggregator	Total	Global	13658	C=0.87165	G=0.12835, T=0.00000
Allele Frequency Aggregator	European	Sub	10774	C=0.84481	G=0.15519, T=0.00000
Allele Frequency Aggregator	African	Sub	1754	C=0.9857	G=0.0143, T=0.0000
Allele Frequency Aggregator	Other	Sub	498	C=0.890	G=0.110, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	410	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	84	C=1.00	G=0.00, T=0.00
Allele Frequency Aggregator	Asian	Sub	72	C=1.00	G=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	66	C=0.98	G=0.02, T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.7903	G=0.2097
1000Genomes_30x	African	Sub	1786	C=0.7654	G=0.2346
1000Genomes_30x	Europe	Sub	1266	C=0.7378	G=0.2622
1000Genomes_30x	South Asian	Sub	1202	C=0.8386	G=0.1614
1000Genomes_30x	East Asian	Sub	1170	C=0.8350	G=0.1650
1000Genomes_30x	American	Sub	980	C=0.791	G=0.209
1000Genomes	Global	Study-wide	5008	C=0.7921	G=0.2079
1000Genomes	African	Sub	1322	C=0.7678	G=0.2322
1000Genomes	East Asian	Sub	1008	C=0.8323	G=0.1677
1000Genomes	Europe	Sub	1006	C=0.7465	G=0.2535
1000Genomes	South Asian	Sub	978	C=0.836	G=0.164
1000Genomes	American	Sub	694	C=0.784	G=0.216
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7545	G=0.2455
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.8840	G=0.1160
Korean Genome Project	KOREAN	Study-wide	1832	C=0.8990	G=0.1010
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.7958	G=0.2042
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.790	G=0.210
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.826	G=0.174
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.861	G=0.139
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.722	G=0.278
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.83	G=0.17
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.69	G=0.31
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.746	G=0.254
Northern Sweden	ACPOP	Study-wide	600	C=0.752	G=0.248
HapMap	Global	Study-wide	330	C=0.803	G=0.197
HapMap	African	Sub	120	C=0.825	G=0.175
HapMap	American	Sub	120	C=0.700	G=0.300
HapMap	Asian	Sub	90	C=0.91	G=0.09
Qatari	Global	Study-wide	216	C=0.815	G=0.185
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.813	G=0.187
SGDP_PRJ	Global	Study-wide	166	C=0.422	G=0.578
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	G=0.17
Siberian	Global	Study-wide	24	C=0.46	G=0.54

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 18	NC_000018.10:g.6400904C>G
GRCh38.p14 chr 18	NC_000018.10:g.6400904C>T
GRCh37.p13 chr 18	NC_000018.9:g.6400903C>G
GRCh37.p13 chr 18	NC_000018.9:g.6400903C>T

Gene: L3MBTL4, L3MBTL histone methyl-lysine binding protein 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
L3MBTL4 transcript variant 2	NM_001330559.2:c.-91+1389… NM_001330559.2:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant 3	NM_001365765.2:c.-91+1429… NM_001365765.2:c.-91+14299G>C	N/A	Intron Variant
L3MBTL4 transcript variant 6	NM_001365766.2:c.-91+1389… NM_001365766.2:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant 7	NM_001365767.2:c.-91+1389… NM_001365767.2:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant 8	NM_001365768.2:c.-91+1389… NM_001365768.2:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant 9	NM_001365769.2:c.-91+1380… NM_001365769.2:c.-91+13804G>C	N/A	Intron Variant
L3MBTL4 transcript variant 1	NM_173464.4:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant 10	NM_001365770.2:c.	N/A	Genic Upstream Transcript Variant
L3MBTL4 transcript variant 4	NR_158609.2:n.	N/A	Intron Variant
L3MBTL4 transcript variant 5	NR_158610.2:n.	N/A	Intron Variant
L3MBTL4 transcript variant 11	NR_158611.2:n.	N/A	Genic Upstream Transcript Variant
L3MBTL4 transcript variant X15	XM_006722364.3:c.-91+1389… XM_006722364.3:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant X1	XM_011525757.2:c.-91+1389… XM_011525757.2:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant X6	XM_011525759.2:c.-91+1380… XM_011525759.2:c.-91+13804G>C	N/A	Intron Variant
L3MBTL4 transcript variant X7	XM_011525760.2:c.-91+1389… XM_011525760.2:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant X12	XM_011525762.3:c.-91+1389… XM_011525762.3:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant X13	XM_011525763.3:c.-91+1389… XM_011525763.3:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant X11	XM_017026074.2:c.-91+1389… XM_017026074.2:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant X18	XM_017026077.2:c.-91+1389… XM_017026077.2:c.-91+13897G>C	N/A	Intron Variant
L3MBTL4 transcript variant X2	XM_047437914.1:c.-91+1429… XM_047437914.1:c.-91+14299G>C	N/A	Intron Variant
L3MBTL4 transcript variant X8	XM_047437917.1:c.-91+1305… XM_047437917.1:c.-91+13056G>C	N/A	Intron Variant
L3MBTL4 transcript variant X10	XM_047437919.1:c.-91+1380… XM_047437919.1:c.-91+13804G>C	N/A	Intron Variant
L3MBTL4 transcript variant X3	XM_011525758.2:c.	N/A	Genic Upstream Transcript Variant
L3MBTL4 transcript variant X20	XM_011525767.3:c.	N/A	Genic Upstream Transcript Variant
L3MBTL4 transcript variant X4	XM_047437915.1:c.	N/A	Genic Upstream Transcript Variant
L3MBTL4 transcript variant X5	XM_047437916.1:c.	N/A	Genic Upstream Transcript Variant
L3MBTL4 transcript variant X9	XM_047437918.1:c.	N/A	Genic Upstream Transcript Variant
L3MBTL4 transcript variant X14	XM_047437920.1:c.	N/A	Genic Upstream Transcript Variant
L3MBTL4 transcript variant X16	XR_007066252.1:n.	N/A	Intron Variant
L3MBTL4 transcript variant X17	XR_007066253.1:n.	N/A	Intron Variant
L3MBTL4 transcript variant X19	XR_935072.2:n.	N/A	Intron 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=	G	T
GRCh38.p14 chr 18	NC_000018.10:g.6400904=	NC_000018.10:g.6400904C>G	NC_000018.10:g.6400904C>T
GRCh37.p13 chr 18	NC_000018.9:g.6400903=	NC_000018.9:g.6400903C>G	NC_000018.9:g.6400903C>T
L3MBTL4 transcript variant 2	NM_001330559.2:c.-91+13897=	NM_001330559.2:c.-91+13897G>C	NM_001330559.2:c.-91+13897G>A
L3MBTL4 transcript variant 3	NM_001365765.2:c.-91+14299=	NM_001365765.2:c.-91+14299G>C	NM_001365765.2:c.-91+14299G>A
L3MBTL4 transcript variant 6	NM_001365766.2:c.-91+13897=	NM_001365766.2:c.-91+13897G>C	NM_001365766.2:c.-91+13897G>A
L3MBTL4 transcript variant 7	NM_001365767.2:c.-91+13897=	NM_001365767.2:c.-91+13897G>C	NM_001365767.2:c.-91+13897G>A
L3MBTL4 transcript variant 8	NM_001365768.2:c.-91+13897=	NM_001365768.2:c.-91+13897G>C	NM_001365768.2:c.-91+13897G>A
L3MBTL4 transcript variant 9	NM_001365769.2:c.-91+13804=	NM_001365769.2:c.-91+13804G>C	NM_001365769.2:c.-91+13804G>A
L3MBTL4 transcript variant 1	NM_173464.3:c.-91+13897=	NM_173464.3:c.-91+13897G>C	NM_173464.3:c.-91+13897G>A
L3MBTL4 transcript variant 1	NM_173464.4:c.-91+13897=	NM_173464.4:c.-91+13897G>C	NM_173464.4:c.-91+13897G>A
L3MBTL4 transcript variant X6	XM_005258166.1:c.-91+13897=	XM_005258166.1:c.-91+13897G>C	XM_005258166.1:c.-91+13897G>A
L3MBTL4 transcript variant X3	XM_005258167.1:c.-91+13897=	XM_005258167.1:c.-91+13897G>C	XM_005258167.1:c.-91+13897G>A
L3MBTL4 transcript variant X4	XM_005258168.1:c.-91+13897=	XM_005258168.1:c.-91+13897G>C	XM_005258168.1:c.-91+13897G>A
L3MBTL4 transcript variant X5	XM_005258169.1:c.-91+13897=	XM_005258169.1:c.-91+13897G>C	XM_005258169.1:c.-91+13897G>A
L3MBTL4 transcript variant X6	XM_005258170.1:c.-91+13897=	XM_005258170.1:c.-91+13897G>C	XM_005258170.1:c.-91+13897G>A
L3MBTL4 transcript variant X15	XM_006722364.3:c.-91+13897=	XM_006722364.3:c.-91+13897G>C	XM_006722364.3:c.-91+13897G>A
L3MBTL4 transcript variant X1	XM_011525757.2:c.-91+13897=	XM_011525757.2:c.-91+13897G>C	XM_011525757.2:c.-91+13897G>A
L3MBTL4 transcript variant X6	XM_011525759.2:c.-91+13804=	XM_011525759.2:c.-91+13804G>C	XM_011525759.2:c.-91+13804G>A
L3MBTL4 transcript variant X7	XM_011525760.2:c.-91+13897=	XM_011525760.2:c.-91+13897G>C	XM_011525760.2:c.-91+13897G>A
L3MBTL4 transcript variant X12	XM_011525762.3:c.-91+13897=	XM_011525762.3:c.-91+13897G>C	XM_011525762.3:c.-91+13897G>A
L3MBTL4 transcript variant X13	XM_011525763.3:c.-91+13897=	XM_011525763.3:c.-91+13897G>C	XM_011525763.3:c.-91+13897G>A
L3MBTL4 transcript variant X11	XM_017026074.2:c.-91+13897=	XM_017026074.2:c.-91+13897G>C	XM_017026074.2:c.-91+13897G>A
L3MBTL4 transcript variant X18	XM_017026077.2:c.-91+13897=	XM_017026077.2:c.-91+13897G>C	XM_017026077.2:c.-91+13897G>A
L3MBTL4 transcript variant X2	XM_047437914.1:c.-91+14299=	XM_047437914.1:c.-91+14299G>C	XM_047437914.1:c.-91+14299G>A
L3MBTL4 transcript variant X8	XM_047437917.1:c.-91+13056=	XM_047437917.1:c.-91+13056G>C	XM_047437917.1:c.-91+13056G>A
L3MBTL4 transcript variant X10	XM_047437919.1:c.-91+13804=	XM_047437919.1:c.-91+13804G>C	XM_047437919.1:c.-91+13804G>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#.

80 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss305896	Jul 12, 2000 (79)
2	KWOK	ss434744	Jul 12, 2000 (85)
3	SC_JCM	ss615621	Jul 16, 2000 (85)
4	KWOK	ss2010000	Oct 18, 2000 (87)
5	KWOK	ss2048957	Oct 18, 2000 (87)
6	PERLEGEN	ss24551062	Sep 20, 2004 (123)
7	ABI	ss44078897	Mar 15, 2006 (126)
8	PERLEGEN	ss69206281	May 17, 2007 (127)
9	BCMHGSC_JDW	ss90701915	Mar 24, 2008 (129)
10	1000GENOMES	ss114013322	Jan 25, 2009 (130)
11	ENSEMBL	ss137246371	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss167733648	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss168998850	Jul 04, 2010 (132)
14	1000GENOMES	ss227722061	Jul 14, 2010 (132)
15	1000GENOMES	ss237368800	Jul 15, 2010 (132)
16	1000GENOMES	ss243639108	Jul 15, 2010 (132)
17	GMI	ss282889268	May 04, 2012 (137)
18	PJP	ss292121968	May 09, 2011 (134)
19	ILLUMINA	ss483763254	May 04, 2012 (137)
20	ILLUMINA	ss483934407	May 04, 2012 (137)
21	ILLUMINA	ss536128550	Sep 08, 2015 (146)
22	TISHKOFF	ss565485039	Apr 25, 2013 (138)
23	SSMP	ss661303536	Apr 25, 2013 (138)
24	ILLUMINA	ss780463398	Aug 21, 2014 (142)
25	ILLUMINA	ss782410961	Aug 21, 2014 (142)
26	ILLUMINA	ss835953561	Aug 21, 2014 (142)
27	EVA-GONL	ss993457604	Aug 21, 2014 (142)
28	JMKIDD_LAB	ss1081303787	Aug 21, 2014 (142)
29	1000GENOMES	ss1360002027	Aug 21, 2014 (142)
30	HAMMER_LAB	ss1397738299	Sep 08, 2015 (146)
31	DDI	ss1428135740	Apr 01, 2015 (144)
32	EVA_GENOME_DK	ss1578296600	Apr 01, 2015 (144)
33	EVA_UK10K_ALSPAC	ss1636342067	Apr 01, 2015 (144)
34	EVA_UK10K_ALSPAC	ss1636342068	Apr 01, 2015 (144)
35	EVA_UK10K_TWINSUK	ss1679336100	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1679336101	Apr 01, 2015 (144)
37	EVA_DECODE	ss1697510270	Apr 01, 2015 (144)
38	HAMMER_LAB	ss1808939445	Sep 08, 2015 (146)
39	WEILL_CORNELL_DGM	ss1936928453	Feb 12, 2016 (147)
40	JJLAB	ss2029236231	Sep 14, 2016 (149)
41	USC_VALOUEV	ss2157731607	Dec 20, 2016 (150)
42	HUMAN_LONGEVITY	ss2219565932	Dec 20, 2016 (150)
43	ILLUMINA	ss2633442485	Nov 08, 2017 (151)
44	GRF	ss2702301652	Nov 08, 2017 (151)
45	GNOMAD	ss2953756177	Nov 08, 2017 (151)
46	SWEGEN	ss3016104434	Nov 08, 2017 (151)
47	BIOINF_KMB_FNS_UNIBA	ss3028444351	Nov 08, 2017 (151)
48	CSHL	ss3351901751	Nov 08, 2017 (151)
49	ILLUMINA	ss3627752897	Oct 12, 2018 (152)
50	ILLUMINA	ss3631420531	Oct 12, 2018 (152)
51	ILLUMINA	ss3642014515	Oct 12, 2018 (152)
52	EGCUT_WGS	ss3682960785	Jul 13, 2019 (153)
53	EVA_DECODE	ss3701155421	Jul 13, 2019 (153)
54	ACPOP	ss3742323834	Jul 13, 2019 (153)
55	EVA	ss3755079684	Jul 13, 2019 (153)
56	PACBIO	ss3788302407	Jul 13, 2019 (153)
57	PACBIO	ss3793243788	Jul 13, 2019 (153)
58	PACBIO	ss3798130007	Jul 13, 2019 (153)
59	KHV_HUMAN_GENOMES	ss3820344230	Jul 13, 2019 (153)
60	EVA	ss3835041974	Apr 27, 2020 (154)
61	EVA	ss3841135071	Apr 27, 2020 (154)
62	EVA	ss3846634576	Apr 27, 2020 (154)
63	SGDP_PRJ	ss3886478899	Apr 27, 2020 (154)
64	KRGDB	ss3936284502	Apr 27, 2020 (154)
65	KOGIC	ss3979542740	Apr 27, 2020 (154)
66	TOPMED	ss5047641030	Apr 27, 2021 (155)
67	TOMMO_GENOMICS	ss5224023791	Apr 27, 2021 (155)
68	1000G_HIGH_COVERAGE	ss5304357096	Oct 16, 2022 (156)
69	EVA	ss5315914249	Oct 16, 2022 (156)
70	EVA	ss5429777867	Oct 16, 2022 (156)
71	HUGCELL_USP	ss5497274045	Oct 16, 2022 (156)
72	1000G_HIGH_COVERAGE	ss5608639025	Oct 16, 2022 (156)
73	SANFORD_IMAGENETICS	ss5660781711	Oct 16, 2022 (156)
74	TOMMO_GENOMICS	ss5780752136	Oct 16, 2022 (156)
75	TOMMO_GENOMICS	ss5780752137	Oct 16, 2022 (156)
76	YY_MCH	ss5816838605	Oct 16, 2022 (156)
77	EVA	ss5827195400	Oct 16, 2022 (156)
78	EVA	ss5851950562	Oct 16, 2022 (156)
79	EVA	ss5873069475	Oct 16, 2022 (156)
80	EVA	ss5952181724	Oct 16, 2022 (156)
81	1000Genomes	NC_000018.9 - 6400903	Oct 12, 2018 (152)
82	1000Genomes_30x	NC_000018.10 - 6400904	Oct 16, 2022 (156)
83	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 40612950 (NC_000018.9:6400902:C:C 2877/3854, NC_000018.9:6400902:C:G 977/3854) Row 40612951 (NC_000018.9:6400902:C:C 3854/3854, NC_000018.9:6400902:C:T 0/3854)	-	Oct 12, 2018 (152)
84	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 40612950 (NC_000018.9:6400902:C:C 2877/3854, NC_000018.9:6400902:C:G 977/3854) Row 40612951 (NC_000018.9:6400902:C:C 3854/3854, NC_000018.9:6400902:C:T 0/3854)	-	Oct 12, 2018 (152)
85	Genome-wide autozygosity in Daghestan	NC_000018.8 - 6390903	Apr 27, 2020 (154)
86	Genetic variation in the Estonian population	NC_000018.9 - 6400903	Oct 12, 2018 (152)
87	The Danish reference pan genome	NC_000018.9 - 6400903	Apr 27, 2020 (154)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 517122441 (NC_000018.10:6400903:C:G 34564/139952) Row 517122442 (NC_000018.10:6400903:C:T 10/140014)	-	Apr 27, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 517122441 (NC_000018.10:6400903:C:G 34564/139952) Row 517122442 (NC_000018.10:6400903:C:T 10/140014)	-	Apr 27, 2021 (155)
90	Genome of the Netherlands Release 5	NC_000018.9 - 6400903	Apr 27, 2020 (154)
91	HapMap	NC_000018.10 - 6400904	Apr 27, 2020 (154)
92	KOREAN population from KRGDB	NC_000018.9 - 6400903	Apr 27, 2020 (154)
93	Korean Genome Project	NC_000018.10 - 6400904	Apr 27, 2020 (154)
94	Northern Sweden	NC_000018.9 - 6400903	Jul 13, 2019 (153)
95	Qatari	NC_000018.9 - 6400903	Apr 27, 2020 (154)
96	SGDP_PRJ	NC_000018.9 - 6400903	Apr 27, 2020 (154)
97	Siberian	NC_000018.9 - 6400903	Apr 27, 2020 (154)
98	8.3KJPN	NC_000018.9 - 6400903	Apr 27, 2021 (155)
99	14KJPN Submission ignored due to conflicting rows: Row 114589240 (NC_000018.10:6400903:C:G 3296/28258) Row 114589241 (NC_000018.10:6400903:C:T 1/28258)	-	Oct 16, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 114589240 (NC_000018.10:6400903:C:G 3296/28258) Row 114589241 (NC_000018.10:6400903:C:T 1/28258)	-	Oct 16, 2022 (156)
101	TopMed	NC_000018.10 - 6400904	Apr 27, 2021 (155)
102	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40612950 (NC_000018.9:6400902:C:C 2772/3708, NC_000018.9:6400902:C:G 936/3708) Row 40612951 (NC_000018.9:6400902:C:C 3707/3708, NC_000018.9:6400902:C:T 1/3708)	-	Oct 12, 2018 (152)
103	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40612950 (NC_000018.9:6400902:C:C 2772/3708, NC_000018.9:6400902:C:G 936/3708) Row 40612951 (NC_000018.9:6400902:C:C 3707/3708, NC_000018.9:6400902:C:T 1/3708)	-	Oct 12, 2018 (152)
104	A Vietnamese Genetic Variation Database	NC_000018.9 - 6400903	Jul 13, 2019 (153)
105	ALFA	NC_000018.10 - 6400904	Apr 27, 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)
rs341236	Sep 19, 2000 (85)
rs17503095	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
208083, ss90701915, ss114013322, ss167733648, ss168998850, ss282889268, ss292121968, ss483763254, ss1397738299, ss1697510270	NC_000018.8:6390902:C:G	NC_000018.10:6400903:C:G	(self)
73295199, 28699033, 4493109, 18092528, 43461896, 15608699, 18970375, 38495879, 10247961, 81993098, 8976972, ss227722061, ss237368800, ss243639108, ss483934407, ss536128550, ss565485039, ss661303536, ss780463398, ss782410961, ss835953561, ss993457604, ss1081303787, ss1360002027, ss1428135740, ss1578296600, ss1636342067, ss1679336100, ss1808939445, ss1936928453, ss2029236231, ss2157731607, ss2633442485, ss2702301652, ss2953756177, ss3016104434, ss3351901751, ss3627752897, ss3631420531, ss3642014515, ss3682960785, ss3742323834, ss3755079684, ss3788302407, ss3793243788, ss3798130007, ss3835041974, ss3841135071, ss3886478899, ss3936284502, ss5224023791, ss5315914249, ss5429777867, ss5660781711, ss5827195400, ss5952181724	NC_000018.9:6400902:C:G	NC_000018.10:6400903:C:G	(self)
96164960, 1547352, 35920741, 263186693, 7698727941, ss2219565932, ss3028444351, ss3701155421, ss3820344230, ss3846634576, ss3979542740, ss5047641030, ss5304357096, ss5497274045, ss5608639025, ss5780752136, ss5816838605, ss5851950562, ss5873069475	NC_000018.10:6400903:C:G	NC_000018.10:6400903:C:G	(self)
ss305896, ss434744, ss615621, ss2010000, ss2048957, ss24551062, ss44078897, ss69206281, ss137246371	NT_010859.14:6390902:C:G	NC_000018.10:6400903:C:G	(self)
ss1636342068, ss1679336101, ss2953756177	NC_000018.9:6400902:C:T	NC_000018.10:6400903:C:T	(self)
7698727941, ss2219565932, ss5780752137	NC_000018.10:6400903:C:T	NC_000018.10:6400903: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 rs237213

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs237213