rs63750439

plus

Geno	Mag	Summary
(-;AT)	6	Lynch syndrome, pathogenic mutation
(AT;AT)	0	common in clinvar
(TA;TA)	0	common in clinvar

Make rs63750439(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

47799173

Gene

MSH6

is a	snp
is	mentioned by
dbSNP	rs63750439
dbSNP (classic)	rs63750439
ClinGen	rs63750439
ebi	rs63750439
HLI	rs63750439
Exac	rs63750439
Gnomad	rs63750439
Varsome	rs63750439
LitVar	rs63750439
Map	rs63750439
PheGenI	rs63750439
Biobank	rs63750439
1000 genomes	rs63750439
hgdp	rs63750439
ensembl	rs63750439
geneview	rs63750439
scholar	rs63750439
google	rs63750439
pharmgkb	rs63750439
gwascentral	rs63750439
openSNP	rs63750439
23andMe	rs63750439
SNPshot	rs63750439
SNPdbe	rs63750439
MSV3d	rs63750439
GWAS Ctlg	rs63750439

Max Magnitude

6

c.1190_1191delAT (p.Tyr397Cysfs)

23andMe name: i5037888. Note: in older (v4) data from 23andMe, one Promethease user has reported that their i5037888 variant was not confirmed when tested by sequencing, indicating the 23andMe result was a false positive.

ClinVar
Risk	rs63750439(-;-) Rs63750439(TA;TA)
Alt	rs63750439(-;-) Rs63750439(TA;TA)
Reference	Rs63750439(AT;AT)
Significance	Pathogenic
Disease	Lynch syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	MSH6
CLNDBN	Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000002.11:g.48026312_48026313delAT
CLNSRC	International Society for Gastrointestinal Hereditary Tumours
CLNACC	RCV000074640.2, RCV000160740.1,