rs137853082

Orientation

plus

Stabilized

plus

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

Make rs137853082(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

1220700

Gene

STK11

is a	snp
is	mentioned by
dbSNP	rs137853082
dbSNP (classic)	rs137853082
ClinGen	rs137853082
ebi	rs137853082
HLI	rs137853082
Exac	rs137853082
Gnomad	rs137853082
Varsome	rs137853082
LitVar	rs137853082
Map	rs137853082
PheGenI	rs137853082
Biobank	rs137853082
1000 genomes	rs137853082
hgdp	rs137853082
ensembl	rs137853082
geneview	rs137853082
scholar	rs137853082
google	rs137853082
pharmgkb	rs137853082
gwascentral	rs137853082
openSNP	rs137853082
23andMe	rs137853082
SNPshot	rs137853082
SNPdbe	rs137853082
MSV3d	rs137853082
GWAS Ctlg	rs137853082

Max Magnitude

5.8

c.717G>A (p.Trp239Ter) and also c.717G>C (p.Trp239Cys)

23andMe name for c.717G>C: i6018895

OMIM	602216
Desc
Variant	0021
Related	also

ClinVar
Risk	rs137853082(A;A) rs137853082(C;C)
Alt	rs137853082(A;A) rs137853082(C;C)
Reference	Rs137853082(G;G)
Significance	Other
Disease	not provided Peutz-Jeghers syndrome
Variation	info
Gene	STK11
CLNDBN	not provided Peutz-Jeghers syndrome
Reversed	0
HGVS	NC_000019.9:g.1220699G>A; NC_000019.9:g.1220699G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000399421.1, RCV000007884.6,