rs768130289

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;G)	3	Carrier of a MUTYH-related familial adenomatous polyposis mutation
(-;GG)	3	Carrier of a MUTYH-related familial adenomatous polyposis mutation
(D;D)	0	common genotype
(G;G)	0	common/normal
(GG;GG)	0	common/normal

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

45331745

Gene

MUTYH

is a	snp
is	mentioned by
dbSNP	rs768130289
dbSNP (classic)	rs768130289
ClinGen	rs768130289
ebi	rs768130289
HLI	rs768130289
Exac	rs768130289
Gnomad	rs768130289
Varsome	rs768130289
LitVar	rs768130289
Map	rs768130289
PheGenI	rs768130289
Biobank	rs768130289
1000 genomes	rs768130289
hgdp	rs768130289
ensembl	rs768130289
geneview	rs768130289
scholar	rs768130289
google	rs768130289
pharmgkb	rs768130289
gwascentral	rs768130289
openSNP	rs768130289
23andMe	rs768130289
SNPshot	rs768130289
SNPdbe	rs768130289
MSV3d	rs768130289
GWAS Ctlg	rs768130289

Max Magnitude

3

at least three variants are now represented by rs768130289: c.1092delC, c.1091_1092delCC, and c.1092dupC; all are considered in ClinVar to be pathogenic for MYH-associated polyposis

ClinVar
Risk	Rs768130289(G;G)
Alt	Rs768130289(G;G)
Reference	Rs768130289(-;-)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	MUTYH
CLNDBN	Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000001.10:g.45797418dupG
CLNSRC
CLNACC	RCV000165254.2, RCV000485059.1,