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rs727504172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
Make rs727504172(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position1222983
GeneSTK11
is asnp
is mentioned by
dbSNPrs727504172
dbSNP (classic)rs727504172
ClinGenrs727504172
ebirs727504172
HLIrs727504172
Exacrs727504172
Gnomadrs727504172
Varsomers727504172
LitVarrs727504172
Maprs727504172
PheGenIrs727504172
Biobankrs727504172
1000 genomesrs727504172
hgdprs727504172
ensemblrs727504172
geneviewrs727504172
scholarrs727504172
googlers727504172
pharmgkbrs727504172
gwascentralrs727504172
openSNPrs727504172
23andMers727504172
SNPshotrs727504172
SNPdbers727504172
MSV3drs727504172
GWAS Ctlgrs727504172
Max Magnitude5.8
ClinVar
Risk rs727504172(T;T)
Alt rs727504172(T;T)
Reference Rs727504172(A;A)
Significance Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1222982A>T
CLNSRC HGMD
CLNACC RCV000153994.3,