rs587776706

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;T)	3.9	Carrier of mismatch cancer repair syndrome mutation; effect unknown
(T;T)	7	Mismatch repair cancer syndrome (predicted)

Reference

GRCh38 38.1/142

Chromosome

2

Position

47805694

Gene

MSH6

is a	snp
is	mentioned by
dbSNP	rs587776706
dbSNP (classic)	rs587776706
ClinGen	rs587776706
ebi	rs587776706
HLI	rs587776706
Exac	rs587776706
Gnomad	rs587776706
Varsome	rs587776706
LitVar	rs587776706
Map	rs587776706
PheGenI	rs587776706
Biobank	rs587776706
1000 genomes	rs587776706
hgdp	rs587776706
ensembl	rs587776706
geneview	rs587776706
scholar	rs587776706
google	rs587776706
pharmgkb	rs587776706
gwascentral	rs587776706
openSNP	rs587776706
23andMe	rs587776706
SNPshot	rs587776706
SNPdbe	rs587776706
MSV3d	rs587776706
GWAS Ctlg	rs587776706

Max Magnitude

7

c.3633dupT (p.Val1212Cysfs)

23andMe name: i5037828

[PMID 16000562]

ClinVar
Risk	Rs587776706(T;T)
Alt	Rs587776706(T;T)
Reference	Rs587776706(-;-)
Significance	Pathogenic
Disease	Turcot syndrome
Variation	info
Gene	MSH6
CLNDBN	Turcot syndrome
Reversed	0
HGVS	NC_000002.11:g.48032833dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009497.6,