Name: rs11837038
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.

rs11837038

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:122618374 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.096280 (34780/361238, ALFA)
G=0.066504 (17603/264690, TOPMED)
G=0.091714 (22800/248598, GnomAD_exome) (+ 23 more)
G=0.074974 (10508/140156, GnomAD)
G=0.096748 (11372/117542, ExAC)
G=0.03639 (2864/78698, PAGE_STUDY)
G=0.07882 (961/12192, GO-ESP)
G=0.0509 (326/6404, 1000G_30x)
G=0.0527 (264/5008, 1000G)
G=0.1047 (469/4480, Estonian)
G=0.1085 (418/3854, ALSPAC)
G=0.0955 (354/3708, TWINSUK)
G=0.0638 (133/2084, HGDP_Stanford)
G=0.0463 (76/1640, HapMap)
G=0.1534 (174/1134, Daghestan)
G=0.123 (123/998, GoNL)
G=0.003 (2/792, PRJEB37584)
G=0.152 (91/600, NorthernSweden)
G=0.081 (43/534, MGP)
G=0.135 (41/304, FINRISK)
G=0.116 (25/216, Qatari)
G=0.00 (0/90, Ancient Sardinia)
T=0.45 (28/62, SGDP_PRJ)
G=0.15 (6/40, GENOME_DK)
T=0.5 (1/2, Siberian)
G=0.5 (1/2, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KNTC1 : 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	377728	T=0.904389	G=0.095611
European	Sub	316522	T=0.897612	G=0.102388
African	Sub	16558	T=0.96829	G=0.03171
African Others	Sub	594	T=0.985	G=0.015
African American	Sub	15964	T=0.96768	G=0.03232
Asian	Sub	6934	T=0.9991	G=0.0009
East Asian	Sub	4968	T=0.9994	G=0.0006
Other Asian	Sub	1966	T=0.9985	G=0.0015
Latin American 1	Sub	1488	T=0.9234	G=0.0766
Latin American 2	Sub	7238	T=0.9566	G=0.0434
South Asian	Sub	5226	T=0.8655	G=0.1345
Other	Sub	23762	T=0.91394	G=0.08606

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
Allele Frequency Aggregator	Total	Global	361238	T=0.903720	G=0.096280
Allele Frequency Aggregator	European	Sub	306322	T=0.897680	G=0.102320
Allele Frequency Aggregator	Other	Sub	22310	T=0.91430	G=0.08570
Allele Frequency Aggregator	African	Sub	11720	T=0.96689	G=0.03311
Allele Frequency Aggregator	Latin American 2	Sub	7238	T=0.9566	G=0.0434
Allele Frequency Aggregator	Asian	Sub	6934	T=0.9991	G=0.0009
Allele Frequency Aggregator	South Asian	Sub	5226	T=0.8655	G=0.1345
Allele Frequency Aggregator	Latin American 1	Sub	1488	T=0.9234	G=0.0766
TopMed	Global	Study-wide	264690	T=0.933496	G=0.066504
gnomAD - Exomes	Global	Study-wide	248598	T=0.908286	G=0.091714
gnomAD - Exomes	European	Sub	134140	T=0.883383	G=0.116617
gnomAD - Exomes	Asian	Sub	48478	T=0.92091	G=0.07909
gnomAD - Exomes	American	Sub	34444	T=0.95933	G=0.04067
gnomAD - Exomes	African	Sub	15454	T=0.97476	G=0.02524
gnomAD - Exomes	Ashkenazi Jewish	Sub	10044	T=0.90721	G=0.09279
gnomAD - Exomes	Other	Sub	6038	T=0.9006	G=0.0994
gnomAD - Genomes	Global	Study-wide	140156	T=0.925026	G=0.074974
gnomAD - Genomes	European	Sub	75892	T=0.89289	G=0.10711
gnomAD - Genomes	African	Sub	42012	T=0.97010	G=0.02990
gnomAD - Genomes	American	Sub	13650	T=0.94982	G=0.05018
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	T=0.9153	G=0.0847
gnomAD - Genomes	East Asian	Sub	3134	T=0.9984	G=0.0016
gnomAD - Genomes	Other	Sub	2152	T=0.9294	G=0.0706
ExAC	Global	Study-wide	117542	T=0.903252	G=0.096748
ExAC	Europe	Sub	71670	T=0.88161	G=0.11839
ExAC	Asian	Sub	24426	T=0.91591	G=0.08409
ExAC	American	Sub	11028	T=0.95765	G=0.04235
ExAC	African	Sub	9536	T=0.9727	G=0.0273
ExAC	Other	Sub	882	T=0.880	G=0.120
The PAGE Study	Global	Study-wide	78698	T=0.96361	G=0.03639
The PAGE Study	AfricanAmerican	Sub	32514	T=0.96844	G=0.03156
The PAGE Study	Mexican	Sub	10810	T=0.95578	G=0.04422
The PAGE Study	Asian	Sub	8318	T=0.9995	G=0.0005
The PAGE Study	PuertoRican	Sub	7918	T=0.9408	G=0.0592
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9790	G=0.0210
The PAGE Study	Cuban	Sub	4230	T=0.9338	G=0.0662
The PAGE Study	Dominican	Sub	3828	T=0.9613	G=0.0387
The PAGE Study	CentralAmerican	Sub	2448	T=0.9551	G=0.0449
The PAGE Study	SouthAmerican	Sub	1982	T=0.9662	G=0.0338
The PAGE Study	NativeAmerican	Sub	1260	T=0.9349	G=0.0651
The PAGE Study	SouthAsian	Sub	856	T=0.877	G=0.123
GO Exome Sequencing Project	Global	Study-wide	12192	T=0.92118	G=0.07882
GO Exome Sequencing Project	European American	Sub	8310	T=0.8988	G=0.1012
GO Exome Sequencing Project	African American	Sub	3882	T=0.9691	G=0.0309
1000Genomes_30x	Global	Study-wide	6404	T=0.9491	G=0.0509
1000Genomes_30x	African	Sub	1786	T=0.9871	G=0.0129
1000Genomes_30x	Europe	Sub	1266	T=0.9052	G=0.0948
1000Genomes_30x	South Asian	Sub	1202	T=0.8869	G=0.1131
1000Genomes_30x	East Asian	Sub	1170	T=0.9974	G=0.0026
1000Genomes_30x	American	Sub	980	T=0.955	G=0.045
1000Genomes	Global	Study-wide	5008	T=0.9473	G=0.0527
1000Genomes	African	Sub	1322	T=0.9864	G=0.0136
1000Genomes	East Asian	Sub	1008	T=0.9970	G=0.0030
1000Genomes	Europe	Sub	1006	T=0.9006	G=0.0994
1000Genomes	South Asian	Sub	978	T=0.884	G=0.116
1000Genomes	American	Sub	694	T=0.957	G=0.043
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8953	G=0.1047
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8915	G=0.1085
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9045	G=0.0955
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.9362	G=0.0638
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=1.000	G=0.000
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.886	G=0.114
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.871	G=0.129
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.897	G=0.103
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.967	G=0.033
HGDP-CEPH-db Supplement 1	America	Sub	216	T=1.000	G=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=1.00	G=0.00
HapMap	Global	Study-wide	1640	T=0.9537	G=0.0463
HapMap	African	Sub	692	T=0.984	G=0.016
HapMap	American	Sub	600	T=0.923	G=0.077
HapMap	Europe	Sub	176	T=0.898	G=0.102
HapMap	Asian	Sub	172	T=0.994	G=0.006
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	T=0.8466	G=0.1534
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	T=0.829	G=0.171
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.882	G=0.118
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.902	G=0.098
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.880	G=0.120
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.82	G=0.18
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.81	G=0.19
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.877	G=0.123
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.997	G=0.003
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.997	G=0.003
Northern Sweden	ACPOP	Study-wide	600	T=0.848	G=0.152
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.919	G=0.081
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.865	G=0.135
Qatari	Global	Study-wide	216	T=0.884	G=0.116
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	90	T=1.00	G=0.00
SGDP_PRJ	Global	Study-wide	62	T=0.45	G=0.55
The Danish reference pan genome	Danish	Study-wide	40	T=0.85	G=0.15
Siberian	Global	Study-wide	2	T=0.5	G=0.5

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.122618374T>G
GRCh37.p13 chr 12	NC_000012.11:g.123102921T>G
KNTC1 RefSeqGene	NG_046952.1:g.96126T>G

Gene: KNTC1, kinetochore associated 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KNTC1 transcript	NM_014708.6:c.6062T>G	V [GTG] > G [GGG]	Coding Sequence Variant
kinetochore-associated protein 1	NP_055523.1:p.Val2021Gly	V (Val) > G (Gly)	Missense Variant
KNTC1 transcript variant X6	XM_011539029.4:c.	N/A	Genic Downstream Transcript Variant
KNTC1 transcript variant X7	XM_011539030.1:c.	N/A	Genic Downstream Transcript Variant
KNTC1 transcript variant X8	XM_017020257.2:c.	N/A	Genic Downstream Transcript Variant
KNTC1 transcript variant X10	XM_024449285.2:c.	N/A	Genic Downstream Transcript Variant
KNTC1 transcript variant X9	XM_047429918.1:c.	N/A	Genic Downstream Transcript Variant
KNTC1 transcript variant X1	XM_006719706.3:c.6062T>G	V [GTG] > G [GGG]	Coding Sequence Variant
kinetochore-associated protein 1 isoform X1	XP_006719769.1:p.Val2021G… XP_006719769.1:p.Val2021Gly	V (Val) > G (Gly)	Missense Variant
KNTC1 transcript variant X2	XM_011539027.4:c.5984T>G	V [GTG] > G [GGG]	Coding Sequence Variant
kinetochore-associated protein 1 isoform X2	XP_011537329.1:p.Val1995G… XP_011537329.1:p.Val1995Gly	V (Val) > G (Gly)	Missense Variant
KNTC1 transcript variant X3	XM_017020254.3:c.5972T>G	V [GTG] > G [GGG]	Coding Sequence Variant
kinetochore-associated protein 1 isoform X3	XP_016875743.1:p.Val1991G… XP_016875743.1:p.Val1991Gly	V (Val) > G (Gly)	Missense Variant
KNTC1 transcript variant X4	XM_047429917.1:c.5894T>G	V [GTG] > G [GGG]	Coding Sequence Variant
kinetochore-associated protein 1 isoform X4	XP_047285873.1:p.Val1965G… XP_047285873.1:p.Val1965Gly	V (Val) > G (Gly)	Missense Variant
KNTC1 transcript variant X5	XM_017020255.3:c.5606T>G	V [GTG] > G [GGG]	Coding Sequence Variant
kinetochore-associated protein 1 isoform X5	XP_016875744.1:p.Val1869G… XP_016875744.1:p.Val1869Gly	V (Val) > G (Gly)	Missense 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	T=	G
GRCh38.p14 chr 12	NC_000012.12:g.122618374=	NC_000012.12:g.122618374T>G
GRCh37.p13 chr 12	NC_000012.11:g.123102921=	NC_000012.11:g.123102921T>G
KNTC1 RefSeqGene	NG_046952.1:g.96126=	NG_046952.1:g.96126T>G
KNTC1 transcript	NM_014708.6:c.6062=	NM_014708.6:c.6062T>G
KNTC1 transcript	NM_014708.5:c.6062=	NM_014708.5:c.6062T>G
KNTC1 transcript	NM_014708.4:c.6062=	NM_014708.4:c.6062T>G
KNTC1 transcript variant X2	XM_011539027.4:c.5984=	XM_011539027.4:c.5984T>G
KNTC1 transcript variant X2	XM_011539027.3:c.5984=	XM_011539027.3:c.5984T>G
KNTC1 transcript variant X2	XM_011539027.2:c.5984=	XM_011539027.2:c.5984T>G
KNTC1 transcript variant X2	XM_011539027.1:c.5984=	XM_011539027.1:c.5984T>G
KNTC1 transcript variant X1	XM_006719706.3:c.6062=	XM_006719706.3:c.6062T>G
KNTC1 transcript variant X1	XM_006719706.2:c.6062=	XM_006719706.2:c.6062T>G
KNTC1 transcript variant X1	XM_006719706.1:c.6062=	XM_006719706.1:c.6062T>G
KNTC1 transcript variant X3	XM_017020254.3:c.5972=	XM_017020254.3:c.5972T>G
KNTC1 transcript variant X3	XM_017020254.2:c.5972=	XM_017020254.2:c.5972T>G
KNTC1 transcript variant X3	XM_017020254.1:c.5972=	XM_017020254.1:c.5972T>G
KNTC1 transcript variant X5	XM_017020255.3:c.5606=	XM_017020255.3:c.5606T>G
KNTC1 transcript variant X4	XM_017020255.2:c.5606=	XM_017020255.2:c.5606T>G
KNTC1 transcript variant X4	XM_017020255.1:c.5606=	XM_017020255.1:c.5606T>G
KNTC1 transcript variant X4	XM_047429917.1:c.5894=	XM_047429917.1:c.5894T>G
kinetochore-associated protein 1	NP_055523.1:p.Val2021=	NP_055523.1:p.Val2021Gly
kinetochore-associated protein 1 isoform X2	XP_011537329.1:p.Val1995=	XP_011537329.1:p.Val1995Gly
kinetochore-associated protein 1 isoform X1	XP_006719769.1:p.Val2021=	XP_006719769.1:p.Val2021Gly
kinetochore-associated protein 1 isoform X3	XP_016875743.1:p.Val1991=	XP_016875743.1:p.Val1991Gly
kinetochore-associated protein 1 isoform X5	XP_016875744.1:p.Val1869=	XP_016875744.1:p.Val1869Gly
kinetochore-associated protein 1 isoform X4	XP_047285873.1:p.Val1965=	XP_047285873.1:p.Val1965Gly

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#.

134 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss17476869	Feb 28, 2004 (120)
2	PSYGENE	ss32465990	Dec 02, 2004 (126)
3	ABI	ss38926162	Mar 10, 2006 (126)
4	ILLUMINA	ss66604162	Dec 02, 2006 (127)
5	ILLUMINA	ss66960558	Dec 02, 2006 (127)
6	ILLUMINA	ss67125591	Dec 02, 2006 (127)
7	PERLEGEN	ss69123268	May 18, 2007 (127)
8	ILLUMINA	ss70400768	May 18, 2007 (127)
9	ILLUMINA	ss70544608	May 27, 2008 (130)
10	ILLUMINA	ss71077636	May 18, 2007 (127)
11	ILLUMINA	ss75478351	Dec 06, 2007 (129)
12	KRIBB_YJKIM	ss85148453	Dec 16, 2007 (130)
13	ILLUMINA	ss121511588	Dec 01, 2009 (131)
14	ILLUMINA	ss153072999	Dec 01, 2009 (131)
15	ILLUMINA	ss159191951	Dec 01, 2009 (131)
16	ILLUMINA	ss160008951	Dec 01, 2009 (131)
17	ENSEMBL	ss161490337	Dec 01, 2009 (131)
18	ILLUMINA	ss169974049	Jul 04, 2010 (132)
19	ILLUMINA	ss171628567	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss208187864	Jul 04, 2010 (132)
21	1000GENOMES	ss236118139	Jul 15, 2010 (132)
22	GMI	ss286640070	Apr 25, 2013 (138)
23	ILLUMINA	ss479606919	May 04, 2012 (137)
24	ILLUMINA	ss479611819	May 04, 2012 (137)
25	ILLUMINA	ss480101572	Sep 08, 2015 (146)
26	ILLUMINA	ss484602209	May 04, 2012 (137)
27	1000GENOMES	ss491054040	May 04, 2012 (137)
28	EXOME_CHIP	ss491475193	May 04, 2012 (137)
29	CLINSEQ_SNP	ss491674532	May 04, 2012 (137)
30	ILLUMINA	ss536728767	Sep 08, 2015 (146)
31	TISHKOFF	ss563456621	Apr 25, 2013 (138)
32	SSMP	ss659042213	Apr 25, 2013 (138)
33	NHLBI-ESP	ss713127342	Apr 25, 2013 (138)
34	ILLUMINA	ss778392594	Sep 08, 2015 (146)
35	ILLUMINA	ss780693838	Aug 21, 2014 (142)
36	ILLUMINA	ss782747916	Sep 08, 2015 (146)
37	ILLUMINA	ss783367715	Aug 21, 2014 (142)
38	ILLUMINA	ss783714691	Sep 08, 2015 (146)
39	ILLUMINA	ss825370076	Apr 01, 2015 (144)
40	ILLUMINA	ss831999982	Sep 08, 2015 (146)
41	ILLUMINA	ss832704429	Jul 13, 2019 (153)
42	ILLUMINA	ss833847677	Sep 08, 2015 (146)
43	JMKIDD_LAB	ss974485660	Aug 21, 2014 (142)
44	EVA-GONL	ss990044268	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss1067538849	Aug 21, 2014 (142)
46	JMKIDD_LAB	ss1078832339	Aug 21, 2014 (142)
47	1000GENOMES	ss1346967274	Aug 21, 2014 (142)
48	HAMMER_LAB	ss1397647929	Sep 08, 2015 (146)
49	DDI	ss1427078470	Apr 01, 2015 (144)
50	EVA_GENOME_DK	ss1576575198	Apr 01, 2015 (144)
51	EVA_FINRISK	ss1584085262	Apr 01, 2015 (144)
52	EVA_UK10K_ALSPAC	ss1629620401	Apr 01, 2015 (144)
53	EVA_DECODE	ss1642154226	Apr 01, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1672614434	Apr 01, 2015 (144)
55	EVA_EXAC	ss1691165685	Apr 01, 2015 (144)
56	EVA_MGP	ss1711346741	Apr 01, 2015 (144)
57	EVA_SVP	ss1713364641	Apr 01, 2015 (144)
58	ILLUMINA	ss1752051435	Sep 08, 2015 (146)
59	ILLUMINA	ss1752051436	Sep 08, 2015 (146)
60	HAMMER_LAB	ss1807456652	Sep 08, 2015 (146)
61	ILLUMINA	ss1917880139	Feb 12, 2016 (147)
62	WEILL_CORNELL_DGM	ss1933399417	Feb 12, 2016 (147)
63	ILLUMINA	ss1946352441	Feb 12, 2016 (147)
64	ILLUMINA	ss1959473731	Feb 12, 2016 (147)
65	JJLAB	ss2027455372	Sep 14, 2016 (149)
66	USC_VALOUEV	ss2155811750	Dec 20, 2016 (150)
67	HUMAN_LONGEVITY	ss2193877685	Dec 20, 2016 (150)
68	ILLUMINA	ss2633019767	Nov 08, 2017 (151)
69	GNOMAD	ss2740223245	Nov 08, 2017 (151)
70	GNOMAD	ss2748987772	Nov 08, 2017 (151)
71	GNOMAD	ss2916120190	Nov 08, 2017 (151)
72	AFFY	ss2984994074	Nov 08, 2017 (151)
73	SWEGEN	ss3010485759	Nov 08, 2017 (151)
74	ILLUMINA	ss3021475478	Nov 08, 2017 (151)
75	BIOINF_KMB_FNS_UNIBA	ss3027538353	Nov 08, 2017 (151)
76	CSHL	ss3350287442	Nov 08, 2017 (151)
77	ILLUMINA	ss3626988926	Oct 12, 2018 (152)
78	ILLUMINA	ss3626988927	Oct 12, 2018 (152)
79	ILLUMINA	ss3631025486	Oct 12, 2018 (152)
80	ILLUMINA	ss3633037404	Oct 12, 2018 (152)
81	ILLUMINA	ss3633739103	Oct 12, 2018 (152)
82	ILLUMINA	ss3634528321	Oct 12, 2018 (152)
83	ILLUMINA	ss3634528322	Oct 12, 2018 (152)
84	ILLUMINA	ss3635429504	Oct 12, 2018 (152)
85	ILLUMINA	ss3636214535	Oct 12, 2018 (152)
86	ILLUMINA	ss3637180522	Oct 12, 2018 (152)
87	ILLUMINA	ss3637992232	Oct 12, 2018 (152)
88	ILLUMINA	ss3639008809	Oct 12, 2018 (152)
89	ILLUMINA	ss3639507484	Oct 12, 2018 (152)
90	ILLUMINA	ss3640235654	Oct 12, 2018 (152)
91	ILLUMINA	ss3640235655	Oct 12, 2018 (152)
92	ILLUMINA	ss3642983474	Oct 12, 2018 (152)
93	ILLUMINA	ss3644605456	Oct 12, 2018 (152)
94	OMUKHERJEE_ADBS	ss3646448683	Oct 12, 2018 (152)
95	ILLUMINA	ss3651858945	Oct 12, 2018 (152)
96	ILLUMINA	ss3653764175	Oct 12, 2018 (152)
97	EGCUT_WGS	ss3677786085	Jul 13, 2019 (153)
98	EVA_DECODE	ss3694636837	Jul 13, 2019 (153)
99	ILLUMINA	ss3725365634	Jul 13, 2019 (153)
100	ACPOP	ss3739454724	Jul 13, 2019 (153)
101	ILLUMINA	ss3744402402	Jul 13, 2019 (153)
102	ILLUMINA	ss3744829128	Jul 13, 2019 (153)
103	ILLUMINA	ss3744829129	Jul 13, 2019 (153)
104	EVA	ss3751066936	Jul 13, 2019 (153)
105	PAGE_CC	ss3771723979	Jul 13, 2019 (153)
106	ILLUMINA	ss3772328300	Jul 13, 2019 (153)
107	ILLUMINA	ss3772328301	Jul 13, 2019 (153)
108	KHV_HUMAN_GENOMES	ss3816395029	Jul 13, 2019 (153)
109	EVA	ss3824783079	Apr 27, 2020 (154)
110	EVA	ss3825831171	Apr 27, 2020 (154)
111	EVA	ss3833369234	Apr 27, 2020 (154)
112	HGDP	ss3847466915	Apr 27, 2020 (154)
113	SGDP_PRJ	ss3879284552	Apr 27, 2020 (154)
114	FSA-LAB	ss3984040051	Apr 26, 2021 (155)
115	EVA	ss3984674675	Apr 26, 2021 (155)
116	EVA	ss3985620166	Apr 26, 2021 (155)
117	EVA	ss3986590943	Apr 26, 2021 (155)
118	EVA	ss4017615493	Apr 26, 2021 (155)
119	TOPMED	ss4935598558	Apr 26, 2021 (155)
120	EVA	ss5236910313	Apr 26, 2021 (155)
121	1000G_HIGH_COVERAGE	ss5292529646	Oct 16, 2022 (156)
122	EVA	ss5408761124	Oct 16, 2022 (156)
123	HUGCELL_USP	ss5487103765	Oct 16, 2022 (156)
124	EVA	ss5510868435	Oct 16, 2022 (156)
125	1000G_HIGH_COVERAGE	ss5590890704	Oct 16, 2022 (156)
126	EVA	ss5624037791	Oct 16, 2022 (156)
127	SANFORD_IMAGENETICS	ss5654118571	Oct 16, 2022 (156)
128	EVA	ss5799886674	Oct 16, 2022 (156)
129	EVA	ss5800181244	Oct 16, 2022 (156)
130	EVA	ss5838628215	Oct 16, 2022 (156)
131	EVA	ss5847686930	Oct 16, 2022 (156)
132	EVA	ss5848365982	Oct 16, 2022 (156)
133	EVA	ss5906356656	Oct 16, 2022 (156)
134	EVA	ss5945532791	Oct 16, 2022 (156)
135	1000Genomes	NC_000012.11 - 123102921	Oct 12, 2018 (152)
136	1000Genomes_30x	NC_000012.12 - 122618374	Oct 16, 2022 (156)
137	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 123102921	Oct 12, 2018 (152)
138	Genome-wide autozygosity in Daghestan	NC_000012.10 - 121668874	Apr 27, 2020 (154)
139	Genetic variation in the Estonian population	NC_000012.11 - 123102921	Oct 12, 2018 (152)
140	ExAC	NC_000012.11 - 123102921	Oct 12, 2018 (152)
141	FINRISK	NC_000012.11 - 123102921	Apr 27, 2020 (154)
142	The Danish reference pan genome	NC_000012.11 - 123102921	Apr 27, 2020 (154)
143	gnomAD - Genomes	NC_000012.12 - 122618374	Apr 26, 2021 (155)
144	gnomAD - Exomes	NC_000012.11 - 123102921	Jul 13, 2019 (153)
145	GO Exome Sequencing Project	NC_000012.11 - 123102921	Oct 12, 2018 (152)
146	Genome of the Netherlands Release 5	NC_000012.11 - 123102921	Apr 27, 2020 (154)
147	HGDP-CEPH-db Supplement 1	NC_000012.10 - 121668874	Apr 27, 2020 (154)
148	HapMap	NC_000012.12 - 122618374	Apr 27, 2020 (154)
149	Medical Genome Project healthy controls from Spanish population	NC_000012.11 - 123102921	Apr 27, 2020 (154)
150	Northern Sweden	NC_000012.11 - 123102921	Jul 13, 2019 (153)
151	The PAGE Study	NC_000012.12 - 122618374	Jul 13, 2019 (153)
152	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 123102921	Apr 26, 2021 (155)
153	CNV burdens in cranial meningiomas	NC_000012.11 - 123102921	Apr 26, 2021 (155)
154	Qatari	NC_000012.11 - 123102921	Apr 27, 2020 (154)
155	SGDP_PRJ	NC_000012.11 - 123102921	Apr 27, 2020 (154)
156	Siberian	NC_000012.11 - 123102921	Apr 27, 2020 (154)
157	TopMed	NC_000012.12 - 122618374	Apr 26, 2021 (155)
158	UK 10K study - Twins	NC_000012.11 - 123102921	Oct 12, 2018 (152)
159	ALFA	NC_000012.12 - 122618374	Apr 26, 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)
rs17880661	Mar 10, 2006 (126)
rs61704020	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639008809, ss3639507484	NC_000012.9:121627800:T:G	NC_000012.12:122618373:T:G	(self)
118662, 144807, ss208187864, ss286640070, ss479606919, ss491674532, ss825370076, ss1397647929, ss1642154226, ss1713364641, ss3642983474, ss3847466915	NC_000012.10:121668873:T:G	NC_000012.12:122618373:T:G	(self)
59790592, 33210106, 23524333, 1484440, 81723, 3159587, 9462795, 1240485, 14809605, 462501, 12739589, 846093, 224171, 15441347, 31301532, 8328104, 33210106, ss236118139, ss479611819, ss480101572, ss484602209, ss491054040, ss491475193, ss536728767, ss563456621, ss659042213, ss713127342, ss778392594, ss780693838, ss782747916, ss783367715, ss783714691, ss831999982, ss832704429, ss833847677, ss974485660, ss990044268, ss1067538849, ss1078832339, ss1346967274, ss1427078470, ss1576575198, ss1584085262, ss1629620401, ss1672614434, ss1691165685, ss1711346741, ss1752051435, ss1752051436, ss1807456652, ss1917880139, ss1933399417, ss1946352441, ss1959473731, ss2027455372, ss2155811750, ss2633019767, ss2740223245, ss2748987772, ss2916120190, ss2984994074, ss3010485759, ss3021475478, ss3350287442, ss3626988926, ss3626988927, ss3631025486, ss3633037404, ss3633739103, ss3634528321, ss3634528322, ss3635429504, ss3636214535, ss3637180522, ss3637992232, ss3640235654, ss3640235655, ss3644605456, ss3646448683, ss3651858945, ss3653764175, ss3677786085, ss3739454724, ss3744402402, ss3744829128, ss3744829129, ss3751066936, ss3772328300, ss3772328301, ss3824783079, ss3825831171, ss3833369234, ss3879284552, ss3984040051, ss3984674675, ss3985620166, ss3986590943, ss4017615493, ss5408761124, ss5510868435, ss5624037791, ss5654118571, ss5799886674, ss5800181244, ss5838628215, ss5847686930, ss5848365982, ss5945532791	NC_000012.11:123102920:T:G	NC_000012.12:122618373:T:G	(self)
78416639, 421751225, 920754, 945448, 151144215, 7565728058, ss2193877685, ss3027538353, ss3694636837, ss3725365634, ss3771723979, ss3816395029, ss4935598558, ss5236910313, ss5292529646, ss5487103765, ss5590890704, ss5906356656	NC_000012.12:122618373:T:G	NC_000012.12:122618373:T:G	(self)
ss17476869	NT_009755.16:496500:T:G	NC_000012.12:122618373:T:G	(self)
ss32465990, ss38926162, ss66604162, ss66960558, ss67125591, ss69123268, ss70400768, ss70544608, ss71077636, ss75478351, ss85148453, ss121511588, ss153072999, ss159191951, ss160008951, ss161490337, ss169974049, ss171628567	NT_009755.19:522297:T:G	NC_000012.12:122618373:T:G	(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 rs11837038

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

rs11837038