rs137853075

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	5.8	Likely miscall in Ancestry v2c data; otherwise, STK11 gene mutation associated with Peutz-Jeghers syndrome
(C;C)	0	common in clinvar

Make rs137853075(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

1221237

Gene

STK11

is a	snp
is	mentioned by
dbSNP	rs137853075
dbSNP (classic)	rs137853075
ClinGen	rs137853075
ebi	rs137853075
HLI	rs137853075
Exac	rs137853075
Gnomad	rs137853075
Varsome	rs137853075
LitVar	rs137853075
Map	rs137853075
PheGenI	rs137853075
Biobank	rs137853075
1000 genomes	rs137853075
hgdp	rs137853075
ensembl	rs137853075
geneview	rs137853075
scholar	rs137853075
google	rs137853075
pharmgkb	rs137853075
gwascentral	rs137853075
openSNP	rs137853075
23andMe	rs137853075
SNPshot	rs137853075
SNPdbe	rs137853075
MSV3d	rs137853075
GWAS Ctlg	rs137853075

Max Magnitude

5.8

c.759C>A (p.Tyr253Ter)

23andMe name: i6018884

OMIM	602216
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137853075(A;A) rs137853075(T;T)
Alt	rs137853075(A;A) rs137853075(T;T)
Reference	Rs137853075(C;C)
Significance	Pathogenic
Disease	Peutz-Jeghers syndrome not specified
Variation	info
Gene	STK11
CLNDBN	Peutz-Jeghers syndrome not specified
Reversed	0
HGVS	NC_000019.9:g.1221236C>A; NC_000019.9:g.1221236C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007865.4, RCV000421885.1,