rs35572355

plus

Geno	Mag	Summary
(A;G)	5	Possibly pathogenic for hereditary cancer-predisposing syndrome, but note lack of consensus
(G;G)	0	common in clinvar

Make rs35572355(A;A)

Reference

GRCh38 38.1/141

Chromosome

16

Position

68833344

Gene

CDH1

is a	snp
is	mentioned by
dbSNP	rs35572355
dbSNP (classic)	rs35572355
ClinGen	rs35572355
ebi	rs35572355
HLI	rs35572355
Exac	rs35572355
Gnomad	rs35572355
Varsome	rs35572355
LitVar	rs35572355
Map	rs35572355
PheGenI	rs35572355
Biobank	rs35572355
1000 genomes	rs35572355
hgdp	rs35572355
ensembl	rs35572355
geneview	rs35572355
scholar	rs35572355
google	rs35572355
pharmgkb	rs35572355
gwascentral	rs35572355
openSNP	rs35572355
23andMe	rs35572355
SNPshot	rs35572355
SNPdbe	rs35572355
MSV3d	rs35572355
GWAS Ctlg	rs35572355

GMAF

0.0009183

Max Magnitude

5

aka c.2494G>A (p.Val832Met)

Note that different clinical labs have come to different conclusions about the pathogenicity of this variant. As summarized in this blog post, classifications from eight different labs varied from benign (1 lab) to pathogenic (3 labs) with other labs designating it's clinical significance as uncertain.

OMIM	192090
Desc
Variant	0017
Related	also

ClinVar
Risk	rs35572355(A;A) rs35572355(C;C)
Alt	rs35572355(A;A) rs35572355(C;C)
Reference	Rs35572355(G;G)
Significance	Other
Disease	Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome not specified Neoplasm of stomach
Variation	info
Gene	CDH1
CLNDBN	Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome not specified Neoplasm of stomach
Reversed	0
HGVS	NC_000016.9:g.68867247G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013033.21, RCV000115856.5, RCV000120506.2, RCV000148456.1,