rs587776674

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs587776674(A;A)

Make rs587776674(A;G)

Reference

GRCh38 38.1/142

Chromosome

10

Position

87863705

Gene	KLLN, PTEN

is a	snp
is	mentioned by
dbSNP	rs587776674
dbSNP (classic)	rs587776674
ClinGen	rs587776674
ebi	rs587776674
HLI	rs587776674
Exac	rs587776674
Gnomad	rs587776674
Varsome	rs587776674
LitVar	rs587776674
Map	rs587776674
PheGenI	rs587776674
Biobank	rs587776674
1000 genomes	rs587776674
hgdp	rs587776674
ensembl	rs587776674
geneview	rs587776674
scholar	rs587776674
google	rs587776674
pharmgkb	rs587776674
gwascentral	rs587776674
openSNP	rs587776674
23andMe	rs587776674
SNPshot	rs587776674
SNPdbe	rs587776674
MSV3d	rs587776674
GWAS Ctlg	rs587776674

Max Magnitude

0

[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	rs587776674(A;A)
Alt	rs587776674(A;A)
Reference	Rs587776674(G;G)
Significance	Pathogenic
Disease	Cowden syndrome 1 not specified PTEN hamartoma tumor syndrome
Variation	info
Gene	PTEN LOC101929706 KLLN
CLNDBN	Cowden syndrome 1 not specified PTEN hamartoma tumor syndrome
Reversed	0
HGVS	NC_000010.10:g.89623462G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008294.3, RCV000169801.2, RCV000230941.1,