rs397518441

Orientation

plus

Stabilized

plus

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

Make rs397518441(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

1207110

Gene

STK11

is a	snp
is	mentioned by
dbSNP	rs397518441
dbSNP (classic)	rs397518441
ClinGen	rs397518441
ebi	rs397518441
HLI	rs397518441
Exac	rs397518441
Gnomad	rs397518441
Varsome	rs397518441
LitVar	rs397518441
Map	rs397518441
PheGenI	rs397518441
Biobank	rs397518441
1000 genomes	rs397518441
hgdp	rs397518441
ensembl	rs397518441
geneview	rs397518441
scholar	rs397518441
google	rs397518441
pharmgkb	rs397518441
gwascentral	rs397518441
openSNP	rs397518441
23andMe	rs397518441
SNPshot	rs397518441
SNPdbe	rs397518441
MSV3d	rs397518441
GWAS Ctlg	rs397518441

Max Magnitude

5.8

aka c.197dupT (p.Leu67Alafs)

ClinVar
Risk	rs397518441(T;T)
Alt	rs397518441(T;T)
Reference	Rs397518441(-;-)
Significance	Pathogenic
Disease	Peutz-Jeghers syndrome
Variation	info
Gene	STK11
CLNDBN	Peutz-Jeghers syndrome
Reversed	0
HGVS	NC_000019.9:g.1207109dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007877.4,