rs730881969

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

Make rs730881969(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

1219345

Gene

STK11

is a	snp
is	mentioned by
dbSNP	rs730881969
dbSNP (classic)	rs730881969
ClinGen	rs730881969
ebi	rs730881969
HLI	rs730881969
Exac	rs730881969
Gnomad	rs730881969
Varsome	rs730881969
LitVar	rs730881969
Map	rs730881969
PheGenI	rs730881969
Biobank	rs730881969
1000 genomes	rs730881969
hgdp	rs730881969
ensembl	rs730881969
geneview	rs730881969
scholar	rs730881969
google	rs730881969
pharmgkb	rs730881969
gwascentral	rs730881969
openSNP	rs730881969
23andMe	rs730881969
SNPshot	rs730881969
SNPdbe	rs730881969
MSV3d	rs730881969
GWAS Ctlg	rs730881969

Max Magnitude

5.8

c.396C>A (p.Cys132Ter)

23andMe name: i6018892

ClinVar
Risk	rs730881969(A;A) rs730881969(T;T)
Alt	rs730881969(A;A) rs730881969(T;T)
Reference	Rs730881969(C;C)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome not specified
Variation	info
Gene	STK11
CLNDBN	Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome not specified
Reversed	0
HGVS	NC_000019.9:g.1219344C>A; NC_000019.9:g.1219344C>T
CLNSRC
CLNACC	RCV000492214.1, RCV000163260.2, RCV000204600.2, RCV000434058.1,