Name: rs1800937
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.

rs1800937

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:47798625 (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=0.061442 (16263/264690, TOPMED)
T=0.071052 (17523/246622, GnomAD_exome)
T=0.074566 (10439/139996, GnomAD) (+ 19 more)
T=0.073495 (8732/118810, ExAC)
T=0.09212 (8084/87754, ALFA)
T=0.06912 (899/13006, GO-ESP)
T=0.0287 (184/6404, 1000G_30x)
T=0.0286 (143/5008, 1000G)
T=0.1355 (607/4480, Estonian)
T=0.0003 (1/2922, KOREAN)
T=0.0005 (1/1832, Korea1K)
T=0.101 (101/998, GoNL)
T=0.093 (56/600, NorthernSweden)
T=0.069 (37/534, MGP)
T=0.045 (15/330, HapMap)
T=0.109 (33/304, FINRISK)
T=0.014 (3/216, Qatari)
T=0.12 (5/40, GENOME_DK)
C=0.50 (8/16, SGDP_PRJ)
T=0.50 (8/16, SGDP_PRJ)
C=0.5 (2/4, Siberian)
T=0.5 (2/4, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MSH6 : Stop Gained
Publications: 23 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	87754	C=0.90788	T=0.09212
European	Sub	68310	C=0.89493	T=0.10507
African	Sub	5768	C=0.9775	T=0.0225
African Others	Sub	198	C=1.000	T=0.000
African American	Sub	5570	C=0.9767	T=0.0233
Asian	Sub	554	C=1.000	T=0.000
East Asian	Sub	456	C=1.000	T=0.000
Other Asian	Sub	98	C=1.00	T=0.00
Latin American 1	Sub	592	C=0.953	T=0.047
Latin American 2	Sub	4890	C=0.9638	T=0.0362
South Asian	Sub	178	C=0.989	T=0.011
Other	Sub	7462	C=0.9236	T=0.0764

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=0.938558	T=0.061442
gnomAD - Exomes	Global	Study-wide	246622	C=0.928948	T=0.071052
gnomAD - Exomes	European	Sub	131090	C=0.887131	T=0.112869
gnomAD - Exomes	Asian	Sub	48852	C=0.98946	T=0.01054
gnomAD - Exomes	American	Sub	34506	C=0.96644	T=0.03356
gnomAD - Exomes	African	Sub	16052	C=0.98324	T=0.01676
gnomAD - Exomes	Ashkenazi Jewish	Sub	10034	C=0.96243	T=0.03757
gnomAD - Exomes	Other	Sub	6088	C=0.9330	T=0.0670
gnomAD - Genomes	Global	Study-wide	139996	C=0.925434	T=0.074566
gnomAD - Genomes	European	Sub	75814	C=0.88598	T=0.11402
gnomAD - Genomes	African	Sub	41952	C=0.97960	T=0.02040
gnomAD - Genomes	American	Sub	13624	C=0.95104	T=0.04896
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.9636	T=0.0364
gnomAD - Genomes	East Asian	Sub	3132	C=0.9994	T=0.0006
gnomAD - Genomes	Other	Sub	2152	C=0.9308	T=0.0692
ExAC	Global	Study-wide	118810	C=0.926505	T=0.073495
ExAC	Europe	Sub	71910	C=0.89002	T=0.10998
ExAC	Asian	Sub	24754	C=0.98877	T=0.01123
ExAC	American	Sub	11382	C=0.97224	T=0.02776
ExAC	African	Sub	9878	C=0.9824	T=0.0176
ExAC	Other	Sub	886	C=0.938	T=0.062
Allele Frequency Aggregator	Total	Global	87754	C=0.90788	T=0.09212
Allele Frequency Aggregator	European	Sub	68310	C=0.89493	T=0.10507
Allele Frequency Aggregator	Other	Sub	7462	C=0.9236	T=0.0764
Allele Frequency Aggregator	African	Sub	5768	C=0.9775	T=0.0225
Allele Frequency Aggregator	Latin American 2	Sub	4890	C=0.9638	T=0.0362
Allele Frequency Aggregator	Latin American 1	Sub	592	C=0.953	T=0.047
Allele Frequency Aggregator	Asian	Sub	554	C=1.000	T=0.000
Allele Frequency Aggregator	South Asian	Sub	178	C=0.989	T=0.011
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.93088	T=0.06912
GO Exome Sequencing Project	European American	Sub	8600	C=0.9069	T=0.0931
GO Exome Sequencing Project	African American	Sub	4406	C=0.9778	T=0.0222
1000Genomes_30x	Global	Study-wide	6404	C=0.9713	T=0.0287
1000Genomes_30x	African	Sub	1786	C=0.9961	T=0.0039
1000Genomes_30x	Europe	Sub	1266	C=0.8981	T=0.1019
1000Genomes_30x	South Asian	Sub	1202	C=0.9950	T=0.0050
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.957	T=0.043
1000Genomes	Global	Study-wide	5008	C=0.9714	T=0.0286
1000Genomes	African	Sub	1322	C=0.9962	T=0.0038
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.8966	T=0.1034
1000Genomes	South Asian	Sub	978	C=0.996	T=0.004
1000Genomes	American	Sub	694	C=0.957	T=0.043
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8645	T=0.1355
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9997	T=0.0003
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9995	T=0.0005
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.899	T=0.101
Northern Sweden	ACPOP	Study-wide	600	C=0.907	T=0.093
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.931	T=0.069
HapMap	Global	Study-wide	330	C=0.955	T=0.045
HapMap	African	Sub	120	C=1.000	T=0.000
HapMap	American	Sub	120	C=0.875	T=0.125
HapMap	Asian	Sub	90	C=1.00	T=0.00
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.891	T=0.109
Qatari	Global	Study-wide	216	C=0.986	T=0.014
The Danish reference pan genome	Danish	Study-wide	40	C=0.88	T=0.12
SGDP_PRJ	Global	Study-wide	16	C=0.50	T=0.50
Siberian	Global	Study-wide	4	C=0.5	T=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 2	NC_000002.12:g.47798625C>A
GRCh38.p14 chr 2	NC_000002.12:g.47798625C>G
GRCh38.p14 chr 2	NC_000002.12:g.47798625C>T
GRCh37.p13 chr 2	NC_000002.11:g.48025764C>A
GRCh37.p13 chr 2	NC_000002.11:g.48025764C>G
GRCh37.p13 chr 2	NC_000002.11:g.48025764C>T
MSH6 RefSeqGene (LRG_219)	NG_007111.1:g.20479C>A
MSH6 RefSeqGene (LRG_219)	NG_007111.1:g.20479C>G
MSH6 RefSeqGene (LRG_219)	NG_007111.1:g.20479C>T

Gene: MSH6, mutS homolog 6 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MSH6 transcript variant 4	NM_001281494.2:c.-265=	N/A	5 Prime UTR Variant
MSH6 transcript variant 3	NM_001281493.2:c.-265=	N/A	5 Prime UTR Variant
MSH6 transcript variant 1	NM_000179.3:c.642C>A	Y [TAC] > * [TAA]	Coding Sequence Variant
DNA mismatch repair protein Msh6 isoform 1	NP_000170.1:p.Tyr214Ter	Y (Tyr) > * (Ter)	Stop Gained
MSH6 transcript variant 1	NM_000179.3:c.642C>G	Y [TAC] > * [TAG]	Coding Sequence Variant
DNA mismatch repair protein Msh6 isoform 1	NP_000170.1:p.Tyr214Ter	Y (Tyr) > * (Ter)	Stop Gained
MSH6 transcript variant 1	NM_000179.3:c.642C>T	Y [TAC] > Y [TAT]	Coding Sequence Variant
DNA mismatch repair protein Msh6 isoform 1	NP_000170.1:p.Tyr214=	Y (Tyr) > Y (Tyr)	Synonymous Variant
MSH6 transcript variant 2	NM_001281492.2:c.252C>A	Y [TAC] > * [TAA]	Coding Sequence Variant
DNA mismatch repair protein Msh6 isoform 2	NP_001268421.1:p.Tyr84Ter	Y (Tyr) > * (Ter)	Stop Gained
MSH6 transcript variant 2	NM_001281492.2:c.252C>G	Y [TAC] > * [TAG]	Coding Sequence Variant
DNA mismatch repair protein Msh6 isoform 2	NP_001268421.1:p.Tyr84Ter	Y (Tyr) > * (Ter)	Stop Gained
MSH6 transcript variant 2	NM_001281492.2:c.252C>T	Y [TAC] > Y [TAT]	Coding Sequence Variant
DNA mismatch repair protein Msh6 isoform 2	NP_001268421.1:p.Tyr84=	Y (Tyr) > Y (Tyr)	Synonymous 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.

Allele: A (allele ID: 95020 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000075015.2	Lynch syndrome	Pathogenic
RCV001071476.3	Hereditary nonpolyposis colorectal neoplasms	Pathogenic

Allele: G (allele ID: 95021 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000075016.2	Lynch syndrome	Pathogenic
RCV000485263.6	not provided	Pathogenic
RCV000703480.4	Hereditary nonpolyposis colorectal neoplasms	Pathogenic
RCV001025256.1	Hereditary cancer-predisposing syndrome	Pathogenic

Allele: T (allele ID: 45261 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000030277.7	Lynch syndrome	Benign
RCV000035327.22	not specified	Benign
RCV000132355.4	Hereditary cancer-predisposing syndrome	Benign
RCV000605855.5	Colorectal cancer, hereditary nonpolyposis, type 5	Benign
RCV000860472.7	Hereditary nonpolyposis colorectal neoplasms	Benign
RCV001353937.2	Carcinoma of colon	Benign
RCV001668142.6	not provided	Benign

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 2	NC_000002.12:g.47798625=	NC_000002.12:g.47798625C>A	NC_000002.12:g.47798625C>G	NC_000002.12:g.47798625C>T
GRCh37.p13 chr 2	NC_000002.11:g.48025764=	NC_000002.11:g.48025764C>A	NC_000002.11:g.48025764C>G	NC_000002.11:g.48025764C>T
MSH6 RefSeqGene (LRG_219)	NG_007111.1:g.20479=	NG_007111.1:g.20479C>A	NG_007111.1:g.20479C>G	NG_007111.1:g.20479C>T
MSH6 transcript variant 1	NM_000179.3:c.642=	NM_000179.3:c.642C>A	NM_000179.3:c.642C>G	NM_000179.3:c.642C>T
MSH6 transcript variant 1	NM_000179.2:c.642=	NM_000179.2:c.642C>A	NM_000179.2:c.642C>G	NM_000179.2:c.642C>T
MSH6 transcript variant 3	NM_001281493.2:c.-265=	NM_001281493.2:c.-265C>A	NM_001281493.2:c.-265C>G	NM_001281493.2:c.-265C>T
MSH6 transcript variant 3	NM_001281493.1:c.-265=	NM_001281493.1:c.-265C>A	NM_001281493.1:c.-265C>G	NM_001281493.1:c.-265C>T
MSH6 transcript variant 4	NM_001281494.2:c.-265=	NM_001281494.2:c.-265C>A	NM_001281494.2:c.-265C>G	NM_001281494.2:c.-265C>T
MSH6 transcript variant 4	NM_001281494.1:c.-265=	NM_001281494.1:c.-265C>A	NM_001281494.1:c.-265C>G	NM_001281494.1:c.-265C>T
MSH6 transcript variant 2	NM_001281492.2:c.252=	NM_001281492.2:c.252C>A	NM_001281492.2:c.252C>G	NM_001281492.2:c.252C>T
MSH6 transcript variant 2	NM_001281492.1:c.252=	NM_001281492.1:c.252C>A	NM_001281492.1:c.252C>G	NM_001281492.1:c.252C>T
MSH6 transcript variant 21	NM_001406830.1:c.345=	NM_001406830.1:c.345C>A	NM_001406830.1:c.345C>G	NM_001406830.1:c.345C>T
MSH6 transcript variant 29	NM_001406807.1:c.117=	NM_001406807.1:c.117C>A	NM_001406807.1:c.117C>G	NM_001406807.1:c.117C>T
MSH6 transcript variant 45	NR_176257.1:n.731=	NR_176257.1:n.731C>A	NR_176257.1:n.731C>G	NR_176257.1:n.731C>T
MSH6 transcript variant 13	NM_001406826.1:c.474=	NM_001406826.1:c.474C>A	NM_001406826.1:c.474C>G	NM_001406826.1:c.474C>T
MSH6 transcript variant 47	NR_176258.1:n.731=	NR_176258.1:n.731C>A	NR_176258.1:n.731C>G	NR_176258.1:n.731C>T
MSH6 transcript variant 5	NM_001406795.1:c.738=	NM_001406795.1:c.738C>A	NM_001406795.1:c.738C>G	NM_001406795.1:c.738C>T
MSH6 transcript variant 38	NM_001406814.1:c.-265=	NM_001406814.1:c.-265C>A	NM_001406814.1:c.-265C>G	NM_001406814.1:c.-265C>T
MSH6 transcript variant 46	NR_176259.1:n.731=	NR_176259.1:n.731C>A	NR_176259.1:n.731C>G	NR_176259.1:n.731C>T
MSH6 transcript variant 6	NM_001406813.1:c.648=	NM_001406813.1:c.648C>A	NM_001406813.1:c.648C>G	NM_001406813.1:c.648C>T
MSH6 transcript variant 10	NM_001406808.1:c.642=	NM_001406808.1:c.642C>A	NM_001406808.1:c.642C>G	NM_001406808.1:c.642C>T
MSH6 transcript variant 12	NM_001406800.1:c.642=	NM_001406800.1:c.642C>A	NM_001406800.1:c.642C>G	NM_001406800.1:c.642C>T
MSH6 transcript variant 11	NM_001406804.1:c.564=	NM_001406804.1:c.564C>A	NM_001406804.1:c.564C>G	NM_001406804.1:c.564C>T
MSH6 transcript variant 9	NM_001406796.1:c.642=	NM_001406796.1:c.642C>A	NM_001406796.1:c.642C>G	NM_001406796.1:c.642C>T
MSH6 transcript variant 8	NM_001406809.1:c.642=	NM_001406809.1:c.642C>A	NM_001406809.1:c.642C>G	NM_001406809.1:c.642C>T
MSH6 transcript variant 22	NM_001406825.1:c.345=	NM_001406825.1:c.345C>A	NM_001406825.1:c.345C>G	NM_001406825.1:c.345C>T
MSH6 transcript variant 14	NM_001406802.1:c.738=	NM_001406802.1:c.738C>A	NM_001406802.1:c.738C>G	NM_001406802.1:c.738C>T
MSH6 transcript variant 42	NR_176261.1:n.731=	NR_176261.1:n.731C>A	NR_176261.1:n.731C>G	NR_176261.1:n.731C>T
MSH6 transcript variant 26	NM_001406818.1:c.345=	NM_001406818.1:c.345C>A	NM_001406818.1:c.345C>G	NM_001406818.1:c.345C>T
MSH6 transcript variant 15	NM_001406798.1:c.642=	NM_001406798.1:c.642C>A	NM_001406798.1:c.642C>G	NM_001406798.1:c.642C>T
MSH6 transcript variant 24	NM_001406819.1:c.345=	NM_001406819.1:c.345C>A	NM_001406819.1:c.345C>G	NM_001406819.1:c.345C>T
MSH6 transcript variant 30	NM_001406799.1:c.117=	NM_001406799.1:c.117C>A	NM_001406799.1:c.117C>G	NM_001406799.1:c.117C>T
MSH6 transcript variant 23	NM_001406824.1:c.345=	NM_001406824.1:c.345C>A	NM_001406824.1:c.345C>G	NM_001406824.1:c.345C>T
MSH6 transcript variant 27	NM_001406822.1:c.345=	NM_001406822.1:c.345C>A	NM_001406822.1:c.345C>G	NM_001406822.1:c.345C>T
MSH6 transcript variant 7	NM_001406811.1:c.-265=	NM_001406811.1:c.-265C>A	NM_001406811.1:c.-265C>G	NM_001406811.1:c.-265C>T
MSH6 transcript variant 18	NM_001406821.1:c.345=	NM_001406821.1:c.345C>A	NM_001406821.1:c.345C>G	NM_001406821.1:c.345C>T
MSH6 transcript variant 25	NM_001406797.1:c.345=	NM_001406797.1:c.345C>A	NM_001406797.1:c.345C>G	NM_001406797.1:c.345C>T
MSH6 transcript variant 20	NM_001406827.1:c.345=	NM_001406827.1:c.345C>A	NM_001406827.1:c.345C>G	NM_001406827.1:c.345C>T
MSH6 transcript variant 28	NM_001406801.1:c.345=	NM_001406801.1:c.345C>A	NM_001406801.1:c.345C>G	NM_001406801.1:c.345C>T
MSH6 transcript variant 17	NM_001406820.1:c.345=	NM_001406820.1:c.345C>A	NM_001406820.1:c.345C>G	NM_001406820.1:c.345C>T
MSH6 transcript variant 19	NM_001406805.1:c.345=	NM_001406805.1:c.345C>A	NM_001406805.1:c.345C>G	NM_001406805.1:c.345C>T
MSH6 transcript variant 34	NM_001406812.1:c.-265=	NM_001406812.1:c.-265C>A	NM_001406812.1:c.-265C>G	NM_001406812.1:c.-265C>T
MSH6 transcript variant 43	NM_001406828.1:c.345=	NM_001406828.1:c.345C>A	NM_001406828.1:c.345C>G	NM_001406828.1:c.345C>T
MSH6 transcript variant 37	NM_001406829.1:c.-265=	NM_001406829.1:c.-265C>A	NM_001406829.1:c.-265C>G	NM_001406829.1:c.-265C>T
MSH6 transcript variant 33	NM_001406816.1:c.-265=	NM_001406816.1:c.-265C>A	NM_001406816.1:c.-265C>G	NM_001406816.1:c.-265C>T
MSH6 transcript variant 31	NM_001406806.1:c.117=	NM_001406806.1:c.117C>A	NM_001406806.1:c.117C>G	NM_001406806.1:c.117C>T
MSH6 transcript variant 36	NM_001406823.1:c.-265=	NM_001406823.1:c.-265C>A	NM_001406823.1:c.-265C>G	NM_001406823.1:c.-265C>T
MSH6 transcript variant 39	NM_001406815.1:c.-265=	NM_001406815.1:c.-265C>A	NM_001406815.1:c.-265C>G	NM_001406815.1:c.-265C>T
MSH6 transcript variant 32	NM_001406803.1:c.642=	NM_001406803.1:c.642C>A	NM_001406803.1:c.642C>G	NM_001406803.1:c.642C>T
MSH6 transcript variant 40	NM_001406817.1:c.642=	NM_001406817.1:c.642C>A	NM_001406817.1:c.642C>G	NM_001406817.1:c.642C>T
DNA mismatch repair protein Msh6 isoform 1	NP_000170.1:p.Tyr214=	NP_000170.1:p.Tyr214Ter	NP_000170.1:p.Tyr214Ter	NP_000170.1:p.Tyr214=
DNA mismatch repair protein Msh6 isoform 2	NP_001268421.1:p.Tyr84=	NP_001268421.1:p.Tyr84Ter	NP_001268421.1:p.Tyr84Ter	NP_001268421.1:p.Tyr84=

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#.

81 SubSNP, 24 Frequency, 13 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGBASE	ss2421096	Nov 14, 2000 (89)
2	UWGC	ss2924022	Sep 28, 2001 (101)
3	EGP_SNPS	ss4384593	Mar 26, 2002 (103)
4	PERLEGEN	ss24636636	Sep 20, 2004 (123)
5	ICRCG	ss37042837	May 24, 2005 (125)
6	APPLERA_GI	ss48411756	Mar 15, 2006 (126)
7	CGM_KYOTO	ss76862486	Dec 07, 2007 (129)
8	CANCER-GENOME	ss86344852	Mar 23, 2008 (129)
9	ILLUMINA	ss160462947	Dec 01, 2009 (131)
10	BCM-HGSC-SUB	ss205725213	Jul 04, 2010 (132)
11	1000GENOMES	ss231154294	Jul 14, 2010 (132)
12	NHLBI-ESP	ss342059128	May 09, 2011 (134)
13	CORRELAGEN	ss472343130	Nov 18, 2011 (136)
14	ILLUMINA	ss481067582	Sep 08, 2015 (146)
15	ILLUMINA	ss483870499	May 04, 2012 (137)
16	ILLUMINA	ss484093119	May 04, 2012 (137)
17	1000GENOMES	ss489815240	May 04, 2012 (137)
18	CLINSEQ_SNP	ss491783033	May 04, 2012 (137)
19	ILLUMINA	ss536065784	Sep 08, 2015 (146)
20	MMR_WOODS	ss538293024	Oct 24, 2012 (137)
21	MMR_WOODS	ss538293025	Oct 24, 2012 (137)
22	ILLUMINA	ss779519035	Sep 08, 2015 (146)
23	ILLUMINA	ss782378811	Sep 08, 2015 (146)
24	ILLUMINA	ss834989492	Sep 08, 2015 (146)
25	EVA-GONL	ss976788934	Aug 21, 2014 (142)
26	JMKIDD_LAB	ss1067437185	Aug 21, 2014 (142)
27	JMKIDD_LAB	ss1069084455	Aug 21, 2014 (142)
28	1000GENOMES	ss1297064755	Aug 21, 2014 (142)
29	CLINVAR	ss1457611708	Nov 23, 2014 (142)
30	EVA_GENOME_DK	ss1578862603	Apr 01, 2015 (144)
31	EVA_FINRISK	ss1584018437	Apr 01, 2015 (144)
32	EVA_DECODE	ss1586199247	Apr 01, 2015 (144)
33	EVA_UK10K_ALSPAC	ss1603424665	Apr 01, 2015 (144)
34	EVA_UK10K_ALSPAC	ss1603424666	Apr 01, 2015 (144)
35	EVA_UK10K_TWINSUK	ss1646418698	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1646418699	Apr 01, 2015 (144)
37	EVA_EXAC	ss1686300659	Apr 01, 2015 (144)
38	EVA_MGP	ss1710962488	Apr 01, 2015 (144)
39	WEILL_CORNELL_DGM	ss1920024284	Feb 12, 2016 (147)
40	JJLAB	ss2020545515	Sep 14, 2016 (149)
41	USC_VALOUEV	ss2148589824	Dec 20, 2016 (150)
42	HUMAN_LONGEVITY	ss2229920783	Dec 20, 2016 (150)
43	ILLUMINA	ss2633609772	Nov 08, 2017 (151)
44	ILLUMINA	ss2635089739	Nov 08, 2017 (151)
45	ILLUMINA	ss2710899836	Nov 08, 2017 (151)
46	GNOMAD	ss2732653771	Nov 08, 2017 (151)
47	GNOMAD	ss2746676891	Nov 08, 2017 (151)
48	GNOMAD	ss2772978237	Nov 08, 2017 (151)
49	SWEGEN	ss2989438173	Nov 08, 2017 (151)
50	BIOINF_KMB_FNS_UNIBA	ss3024038500	Nov 08, 2017 (151)
51	CSHL	ss3344211025	Nov 08, 2017 (151)
52	ILLUMINA	ss3628056130	Oct 11, 2018 (152)
53	ILLUMINA	ss3631577059	Oct 11, 2018 (152)
54	ILLUMINA	ss3636450888	Oct 11, 2018 (152)
55	EGCUT_WGS	ss3657404196	Jul 13, 2019 (153)
56	EVA_DECODE	ss3703809330	Jul 13, 2019 (153)
57	ACPOP	ss3728399464	Jul 13, 2019 (153)
58	KHV_HUMAN_GENOMES	ss3801081638	Jul 13, 2019 (153)
59	EVA	ss3823767962	Apr 25, 2020 (154)
60	EVA	ss3825600166	Apr 25, 2020 (154)
61	SGDP_PRJ	ss3852182393	Apr 25, 2020 (154)
62	KRGDB	ss3897639118	Apr 25, 2020 (154)
63	KOGIC	ss3947674408	Apr 25, 2020 (154)
64	FSA-LAB	ss3984175827	Apr 26, 2021 (155)
65	EVA	ss3986180334	Apr 26, 2021 (155)
66	TOPMED	ss4504135338	Apr 26, 2021 (155)
67	EVA	ss5237635657	Oct 12, 2022 (156)
68	1000G_HIGH_COVERAGE	ss5247912022	Oct 12, 2022 (156)
69	EVA	ss5328652011	Oct 12, 2022 (156)
70	HUGCELL_USP	ss5448130368	Oct 12, 2022 (156)
71	1000G_HIGH_COVERAGE	ss5523043073	Oct 12, 2022 (156)
72	EVA	ss5623890937	Oct 12, 2022 (156)
73	SANFORD_IMAGENETICS	ss5628657818	Oct 12, 2022 (156)
74	EVA	ss5820041505	Oct 12, 2022 (156)
75	EVA	ss5847866737	Oct 12, 2022 (156)
76	EVA	ss5848513821	Oct 12, 2022 (156)
77	EVA	ss5930189303	Oct 12, 2022 (156)
78	EVA	ss5935570997	Oct 12, 2022 (156)
79	EVA	ss5935570998	Oct 12, 2022 (156)
80	EVA	ss5954880607	Oct 12, 2022 (156)
81	EVA	ss5980054777	Oct 12, 2022 (156)
82	1000Genomes	NC_000002.11 - 48025764	Oct 11, 2018 (152)
83	1000Genomes_30x	NC_000002.12 - 47798625	Oct 12, 2022 (156)
84	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 4447821 (NC_000002.11:48025763:C:C 3443/3854, NC_000002.11:48025763:C:T 411/3854) Row 4447822 (NC_000002.11:48025763:C:C 3853/3854, NC_000002.11:48025763:C:G 1/3854)	-	Oct 11, 2018 (152)
85	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 4447821 (NC_000002.11:48025763:C:C 3443/3854, NC_000002.11:48025763:C:T 411/3854) Row 4447822 (NC_000002.11:48025763:C:C 3853/3854, NC_000002.11:48025763:C:G 1/3854)	-	Oct 11, 2018 (152)
86	Genetic variation in the Estonian population	NC_000002.11 - 48025764	Oct 11, 2018 (152)
87	ExAC	NC_000002.11 - 48025764	Oct 11, 2018 (152)
88	FINRISK	NC_000002.11 - 48025764	Apr 25, 2020 (154)
89	The Danish reference pan genome	NC_000002.11 - 48025764	Apr 25, 2020 (154)
90	gnomAD - Genomes	NC_000002.12 - 47798625	Apr 26, 2021 (155)
91	gnomAD - Exomes	NC_000002.11 - 48025764	Jul 13, 2019 (153)
92	GO Exome Sequencing Project	NC_000002.11 - 48025764	Oct 11, 2018 (152)
93	Genome of the Netherlands Release 5	NC_000002.11 - 48025764	Apr 25, 2020 (154)
94	HapMap	NC_000002.12 - 47798625	Apr 25, 2020 (154)
95	KOREAN population from KRGDB	NC_000002.11 - 48025764	Apr 25, 2020 (154)
96	Korean Genome Project	NC_000002.12 - 47798625	Apr 25, 2020 (154)
97	Medical Genome Project healthy controls from Spanish population	NC_000002.11 - 48025764	Apr 25, 2020 (154)
98	Northern Sweden	NC_000002.11 - 48025764	Jul 13, 2019 (153)
99	Qatari	NC_000002.11 - 48025764	Apr 25, 2020 (154)
100	SGDP_PRJ	NC_000002.11 - 48025764	Apr 25, 2020 (154)
101	Siberian	NC_000002.11 - 48025764	Apr 25, 2020 (154)
102	TopMed	NC_000002.12 - 47798625	Apr 26, 2021 (155)
103	UK 10K study - Twins Submission ignored due to conflicting rows: Row 4447821 (NC_000002.11:48025763:C:C 3332/3708, NC_000002.11:48025763:C:T 376/3708) Row 4447822 (NC_000002.11:48025763:C:C 3708/3708, NC_000002.11:48025763:C:G 0/3708)	-	Oct 11, 2018 (152)
104	UK 10K study - Twins Submission ignored due to conflicting rows: Row 4447821 (NC_000002.11:48025763:C:C 3332/3708, NC_000002.11:48025763:C:T 376/3708) Row 4447822 (NC_000002.11:48025763:C:C 3708/3708, NC_000002.11:48025763:C:G 0/3708)	-	Oct 11, 2018 (152)
105	ALFA	NC_000002.12 - 47798625	Apr 26, 2021 (155)
106	ClinVar	RCV000030277.7	Oct 12, 2022 (156)
107	ClinVar	RCV000035327.22	Oct 12, 2022 (156)
108	ClinVar	RCV000075015.2	Oct 11, 2018 (152)
109	ClinVar	RCV000075016.2	Oct 11, 2018 (152)
110	ClinVar	RCV000132355.4	Oct 12, 2022 (156)
111	ClinVar	RCV000485263.6	Oct 12, 2022 (156)
112	ClinVar	RCV000605855.5	Oct 12, 2022 (156)
113	ClinVar	RCV000703480.4	Oct 12, 2022 (156)
114	ClinVar	RCV000860472.7	Oct 12, 2022 (156)
115	ClinVar	RCV001025256.1	Apr 25, 2020 (154)
116	ClinVar	RCV001071476.3	Oct 12, 2022 (156)
117	ClinVar	RCV001353937.2	Oct 12, 2022 (156)
118	ClinVar	RCV001668142.6	Oct 12, 2022 (156)

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)
rs2266740	Nov 05, 2001 (101)
rs17323585	Oct 07, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5847866737, ss5935570997	NC_000002.11:48025763:C:A	NC_000002.12:47798624:C:A
RCV000075015.2, RCV001071476.3, ss538293024	NC_000002.12:47798624:C:A	NC_000002.12:47798624:C:A	(self)
ss1603424666, ss1646418699, ss5847866737, ss5935570997	NC_000002.11:48025763:C:G	NC_000002.12:47798624:C:G	(self)
RCV000075016.2, RCV000485263.6, RCV000703480.4, RCV001025256.1, ss1457611708	NC_000002.12:47798624:C:G	NC_000002.12:47798624:C:G	(self)
ss205725213, ss484093119, ss491783033, ss1586199247, ss2635089739	NC_000002.10:47879267:C:T	NC_000002.12:47798624:C:T	(self)
8004050, 3142444, 6170346, 14898, 5035697, 1702158, 226426, 1953793, 4816512, 79240, 1684329, 2066214, 4199373, 1106178, ss231154294, ss342059128, ss481067582, ss483870499, ss489815240, ss536065784, ss779519035, ss782378811, ss834989492, ss976788934, ss1067437185, ss1069084455, ss1297064755, ss1578862603, ss1584018437, ss1603424665, ss1646418698, ss1686300659, ss1710962488, ss1920024284, ss2020545515, ss2148589824, ss2633609772, ss2710899836, ss2732653771, ss2746676891, ss2772978237, ss2989438173, ss3344211025, ss3628056130, ss3631577059, ss3636450888, ss3657404196, ss3728399464, ss3823767962, ss3825600166, ss3852182393, ss3897639118, ss3984175827, ss3986180334, ss5328652011, ss5623890937, ss5628657818, ss5820041505, ss5848513821, ss5935570997, ss5935570998, ss5954880607, ss5980054777	NC_000002.11:48025763:C:T	NC_000002.12:47798624:C:T	(self)
RCV000030277.7, RCV000035327.22, RCV000132355.4, RCV000605855.5, RCV000860472.7, RCV001353937.2, RCV001668142.6, 10569008, 56799709, 1790158, 4052409, 307958217, 9590020280, ss472343130, ss538293025, ss2229920783, ss3024038500, ss3703809330, ss3801081638, ss3947674408, ss4504135338, ss5237635657, ss5247912022, ss5448130368, ss5523043073, ss5930189303	NC_000002.12:47798624:C:T	NC_000002.12:47798624:C:T	(self)
ss2421096, ss2924022, ss4384593, ss24636636, ss37042837, ss48411756, ss76862486, ss86344852, ss160462947	NT_022184.15:26847650:C:T	NC_000002.12:47798624:C:T	(self)

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

23 citations for rs1800937

PMID	Title	Author	Year	Journal
1734424	[Prediction of cancer mortality in Scandinavia in 2005. Effect of various interventions].	Wiklund K et al.	1992	Nordisk medicin
1736038	Prevalence of carnitine depletion in critically ill patients with undernutrition.	Wennberg A et al.	1992	Metabolism
1851154	5-Phosphoribosyl 1-pyrophosphate synthetase converts the acyclic nucleoside phosphonates 9-(3-hydroxy-2-phosphonylmethoxypropyl)adenine and 9-(2-phosphonylmethoxyethyl)adenine directly to their antivirally active diphosphate derivatives.	Balzarini J et al.	1991	The Journal of biological chemistry
10507723	Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer.	Verma L et al.	1999	Journal of medical genetics
10537275	Germ-line msh6 mutations in colorectal cancer families.	Kolodner RD et al.	1999	Cancer research
10699937	Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.	Plaschke J et al.	2000	International journal of cancer
11153917	Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?	Charames GS et al.	2000	Human genetics
12547705	Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.	Hendriks Y et al.	2003	The American journal of pathology
14520694	MSH6 germline mutations are rare in colorectal cancer families.	Peterlongo P et al.	2003	International journal of cancer
14585961	Regulation of the human MSH6 gene by the Sp1 transcription factor and alteration of promoter activity and expression by polymorphisms.	Gazzoli I et al.	2003	Molecular and cellular biology
15805151	No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.	Vahteristo P et al.	2005	Journal of medical genetics
16270383	Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.	Sánchez de Abajo A et al.	2005	World journal of gastroenterology
16341805	Mutational analysis of hMsh6 in Israeli HNPCC and HNPCC-like families.	Dovrat S et al.	2005	Familial cancer
18269114	Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.	Devlin LA et al.	2008	The Ulster medical journal
19250818	A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.	Perez-Cabornero L et al.	2009	European journal of cancer (Oxford, England
19924528	Association of rare MSH6 variants with familial breast cancer.	Wasielewski M et al.	2010	Breast cancer research and treatment
20149637	Common variants in human CRC genes as low-risk alleles.	Picelli S et al.	2010	European journal of cancer (Oxford, England
20682701	The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.	Woods MO et al.	2010	Gut
23565320	DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.	Doherty JA et al.	2013	International journal of molecular epidemiology and genetics
23757202	Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.	Bean LJ et al.	2013	Human mutation
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
24689082	A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.	Hansen MF et al.	2014	Molecular genetics & genomic medicine
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine

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

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Genomic regions, transcripts, and products
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs1800937