rs41294988

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs41294988(A;C)

Make rs41294988(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47783271

Gene

MSH6

is a	snp
is	mentioned by
dbSNP	rs41294988
dbSNP (classic)	rs41294988
ClinGen	rs41294988
ebi	rs41294988
HLI	rs41294988
Exac	rs41294988
Gnomad	rs41294988
Varsome	rs41294988
LitVar	rs41294988
Map	rs41294988
PheGenI	rs41294988
Biobank	rs41294988
1000 genomes	rs41294988
hgdp	rs41294988
ensembl	rs41294988
geneview	rs41294988
scholar	rs41294988
google	rs41294988
pharmgkb	rs41294988
gwascentral	rs41294988
openSNP	rs41294988
23andMe	rs41294988
SNPshot	rs41294988
SNPdbe	rs41294988
MSV3d	rs41294988
GWAS Ctlg	rs41294988

Max Magnitude

0

ClinVar
Risk	rs41294988(C;C) rs41294988(G;G)
Alt	rs41294988(C;C) rs41294988(G;G)
Reference	Rs41294988(A;A)
Significance	Probable-Pathogenic
Disease	Lynch syndrome not specified
Variation	info
Gene	MSH6
CLNDBN	Lynch syndrome not specified
Reversed	0
HGVS	NC_000002.11:g.48010410A>C; NC_000002.11:g.48010410A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000030274.3, RCV000160705.2, RCV000458284.1,

[PMID 19389263] Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

[PMID 18033691] Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.