rs137853083

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	5.8	STK11 gene mutation associated with Peutz-Jeghers syndrome

Make rs137853083(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

1221216

Gene

STK11

is a	snp
is	mentioned by
dbSNP	rs137853083
dbSNP (classic)	rs137853083
ClinGen	rs137853083
ebi	rs137853083
HLI	rs137853083
Exac	rs137853083
Gnomad	rs137853083
Varsome	rs137853083
LitVar	rs137853083
Map	rs137853083
PheGenI	rs137853083
Biobank	rs137853083
1000 genomes	rs137853083
hgdp	rs137853083
ensembl	rs137853083
geneview	rs137853083
scholar	rs137853083
google	rs137853083
pharmgkb	rs137853083
gwascentral	rs137853083
openSNP	rs137853083
23andMe	rs137853083
SNPshot	rs137853083
SNPdbe	rs137853083
MSV3d	rs137853083
GWAS Ctlg	rs137853083

Max Magnitude

5.8

c.738C>G (p.Tyr246Ter)

23andMe name: i6018882

OMIM	602216
Desc
Variant	0023
Related	also

ClinVar
Risk	rs137853083(G;G) rs137853083(T;T)
Alt	rs137853083(G;G) rs137853083(T;T)
Reference	Rs137853083(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.1221215C>G; NC_000019.9:g.1221215C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007886.3, RCV000429240.1,