rs730881972

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	5.8	Likely miscall in 23andMe v4 (or older) and Ancestry v2c/v2d data; otherwise, STK11 gene mutation associated with Peutz-Jeghers syndrome
(G;G)	0	common in clinvar

Make rs730881972(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

1220395

Gene

STK11

is a	snp
is	mentioned by
dbSNP	rs730881972
dbSNP (classic)	rs730881972
ClinGen	rs730881972
ebi	rs730881972
HLI	rs730881972
Exac	rs730881972
Gnomad	rs730881972
Varsome	rs730881972
LitVar	rs730881972
Map	rs730881972
PheGenI	rs730881972
Biobank	rs730881972
1000 genomes	rs730881972
hgdp	rs730881972
ensembl	rs730881972
geneview	rs730881972
scholar	rs730881972
google	rs730881972
pharmgkb	rs730881972
gwascentral	rs730881972
openSNP	rs730881972
23andMe	rs730881972
SNPshot	rs730881972
SNPdbe	rs730881972
MSV3d	rs730881972
GWAS Ctlg	rs730881972

Max Magnitude

5.8

c.487G>C (p.Gly163Arg)

23andMe name: i6018852

ClinVar
Risk	rs730881972(C;C) rs730881972(T;T)
Alt	rs730881972(C;C) rs730881972(T;T)
Reference	Rs730881972(G;G)
Significance	Probable-Pathogenic
Disease	Hereditary cancer-predisposing syndrome Squamous cell carcinoma of lung
Variation	info
Gene	STK11
CLNDBN	Hereditary cancer-predisposing syndrome Squamous cell carcinoma of lung
Reversed	0
HGVS	NC_000019.9:g.1220394G>C; NC_000019.9:g.1220394G>T
CLNSRC
CLNACC	RCV000492450.1, RCV000431280.1,