rs587776675

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	6.3	Cowden syndrome

Make rs587776675(T;T)

Reference

GRCh38 38.1/142

Chromosome

10

Position

87863608

Gene	KLLN, PTEN

is a	snp
is	mentioned by
dbSNP	rs587776675
dbSNP (classic)	rs587776675
ClinGen	rs587776675
ebi	rs587776675
HLI	rs587776675
Exac	rs587776675
Gnomad	rs587776675
Varsome	rs587776675
LitVar	rs587776675
Map	rs587776675
PheGenI	rs587776675
Biobank	rs587776675
1000 genomes	rs587776675
hgdp	rs587776675
ensembl	rs587776675
geneview	rs587776675
scholar	rs587776675
google	rs587776675
pharmgkb	rs587776675
gwascentral	rs587776675
openSNP	rs587776675
23andMe	rs587776675
SNPshot	rs587776675
SNPdbe	rs587776675
MSV3d	rs587776675
GWAS Ctlg	rs587776675

Max Magnitude

6.3

[PMID 27569544 ] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk	rs587776675(C;C) rs587776675(T;T)
Alt	rs587776675(C;C) rs587776675(T;T)
Reference	Rs587776675(G;G)
Significance	Pathogenic
Disease	not specified Cowden syndrome 1
Variation	info
Gene	PTEN LOC101929706 KLLN
CLNDBN	not specified Cowden syndrome 1
Reversed	0
HGVS	NC_000010.10:g.89623365G>C; NC_000010.10:g.89623365G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000169886.2, RCV000008295.3,