rs63751407

plus

Geno	Mag	Summary
(-;CT)	6	Lynch syndrome, pathogenic mutation
(-;TC)	6	Lynch syndrome
(CT;CT)	0	common in clinvar
(I;I)	0	common genotype
(TC;TC)	0	common in clinvar

Make rs63751407(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47801035

Gene

MSH6

is a	snp
is	mentioned by
dbSNP	rs63751407
dbSNP (classic)	rs63751407
ClinGen	rs63751407
ebi	rs63751407
HLI	rs63751407
Exac	rs63751407
Gnomad	rs63751407
Varsome	rs63751407
LitVar	rs63751407
Map	rs63751407
PheGenI	rs63751407
Biobank	rs63751407
1000 genomes	rs63751407
hgdp	rs63751407
ensembl	rs63751407
geneview	rs63751407
scholar	rs63751407
google	rs63751407
pharmgkb	rs63751407
gwascentral	rs63751407
openSNP	rs63751407
23andMe	rs63751407
SNPshot	rs63751407
SNPdbe	rs63751407
MSV3d	rs63751407
GWAS Ctlg	rs63751407

Merged from

Rs587776704

Max Magnitude

6

c.3053_3054delTC (p.Leu1018Hisfs)

23andMe name: i5037880

ClinVar
Risk	rs63751407(-;-) Rs63751407(TC;TC)
Alt	rs63751407(-;-) Rs63751407(TC;TC)
Reference	Rs63751407(CT;CT)
Significance	Pathogenic
Disease	Hereditary nonpolyposis colorectal cancer type 5 Lynch syndrome
Variation	info
Gene	MSH6
CLNDBN	Hereditary nonpolyposis colorectal cancer type 5 Lynch syndrome
Reversed	0
HGVS	NC_000002.11:g.48028175_48028176delTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009489.3, RCV000074799.3,

[PMID 11245474] MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer.

[PMID 15837969] Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?

[PMID 17312306] Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.