rs12476364

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6	Lynch syndrome, pathogenic mutation
(C;G)	6	Lynch syndrome, pathogenic mutation
(G;G)	0	common in clinvar
(G;T)	6	Lynch syndrome

Make rs12476364(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47416295

Gene

MSH2

is a	snp
is	mentioned by
dbSNP	rs12476364
dbSNP (classic)	rs12476364
ClinGen	rs12476364
ebi	rs12476364
HLI	rs12476364
Exac	rs12476364
Gnomad	rs12476364
Varsome	rs12476364
LitVar	rs12476364
Map	rs12476364
PheGenI	rs12476364
Biobank	rs12476364
1000 genomes	rs12476364
hgdp	rs12476364
ensembl	rs12476364
geneview	rs12476364
scholar	rs12476364
google	rs12476364
pharmgkb	rs12476364
gwascentral	rs12476364
openSNP	rs12476364
23andMe	rs12476364
SNPshot	rs12476364
SNPdbe	rs12476364
MSV3d	rs12476364
GWAS Ctlg	rs12476364

Max Magnitude

6

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs12476364(A;A) rs12476364(C;C) rs12476364(T;T)
Alt	rs12476364(A;A) rs12476364(C;C) rs12476364(T;T)
Reference	Rs12476364(G;G)
Significance	Pathogenic
Disease	Lynch syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	MSH2
CLNDBN	Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000002.11:g.47643434G>A; NC_000002.11:g.47643434G>C; NC_000002.11:g.47643434G>T
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000076757.2, RCV000076758.2, RCV000491758.1, RCV000468897.1, RCV000491423.1,