rs730881976

Orientation

plus

Stabilized

plus

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

Make rs730881976(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

1220702

Gene

STK11

is a	snp
is	mentioned by
dbSNP	rs730881976
dbSNP (classic)	rs730881976
ClinGen	rs730881976
ebi	rs730881976
HLI	rs730881976
Exac	rs730881976
Gnomad	rs730881976
Varsome	rs730881976
LitVar	rs730881976
Map	rs730881976
PheGenI	rs730881976
Biobank	rs730881976
1000 genomes	rs730881976
hgdp	rs730881976
ensembl	rs730881976
geneview	rs730881976
scholar	rs730881976
google	rs730881976
pharmgkb	rs730881976
gwascentral	rs730881976
openSNP	rs730881976
23andMe	rs730881976
SNPshot	rs730881976
SNPdbe	rs730881976
MSV3d	rs730881976
GWAS Ctlg	rs730881976

Max Magnitude

5.8

c.719C>A (p.Ser240Ter) and also c.719C>G (p.Ser240Trp)

23andMe name for c.719C>A: i6018890

ClinVar
Risk	rs730881976(A;A) rs730881976(G;G)
Alt	rs730881976(A;A) rs730881976(G;G)
Reference	Rs730881976(C;C)
Significance	Pathogenic
Disease	Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	STK11
CLNDBN	Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000019.9:g.1220701C>A; NC_000019.9:g.1220701C>G
CLNSRC
CLNACC	RCV000199530.1, RCV000160995.2,