rs778376925

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 rs778376925(C;T)

Make rs778376925(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

1207093

Gene

STK11

is a	snp
is	mentioned by
dbSNP	rs778376925
dbSNP (classic)	rs778376925
ClinGen	rs778376925
ebi	rs778376925
HLI	rs778376925
Exac	rs778376925
Gnomad	rs778376925
Varsome	rs778376925
LitVar	rs778376925
Map	rs778376925
PheGenI	rs778376925
Biobank	rs778376925
1000 genomes	rs778376925
hgdp	rs778376925
ensembl	rs778376925
geneview	rs778376925
scholar	rs778376925
google	rs778376925
pharmgkb	rs778376925
gwascentral	rs778376925
openSNP	rs778376925
23andMe	rs778376925
SNPshot	rs778376925
SNPdbe	rs778376925
MSV3d	rs778376925
GWAS Ctlg	rs778376925

Max Magnitude

5.8

c.180C>A (p.Tyr60Ter) and also c.180C>G (p.Tyr60Ter)

23andMe name for c.180C>A: i6018885

ClinVar
Risk	rs778376925(T;T)
Alt	rs778376925(T;T)
Reference	Rs778376925(C;C)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome
Variation	info
Gene	STK11
CLNDBN	Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome
Reversed	0
HGVS	NC_000019.9:g.1207092C>A; NC_000019.9:g.1207092C>G; NC_000019.9:g.1207092C>T
CLNSRC
CLNACC	RCV000492762.1, RCV000492522.1, RCV000226061.1,