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rs112576957

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs112576957(C;C)
Make rs112576957(C;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position38290282
GeneSPINT2
is asnp
is mentioned by
dbSNPrs112576957
ebirs112576957
HLIrs112576957
Exacrs112576957
Varsomers112576957
Maprs112576957
PheGenIrs112576957
hapmaprs112576957
1000 genomesrs112576957
hgdprs112576957
ensemblrs112576957
gopubmedrs112576957
geneviewrs112576957
scholarrs112576957
googlers112576957
pharmgkbrs112576957
gwascentralrs112576957
openSNPrs112576957
23andMers112576957
23andMe allrs112576957
SNP Nexus

SNPshotrs112576957
SNPdbers112576957
MSV3drs112576957
GWAS Ctlgrs112576957
Max Magnitude0
ClinVar
Risk rs112576957(A,C;A,C)
Alt rs112576957(A,C;A,C)
Reference rs112576957(T;T)
Significance Pathogenic
Disease Diarrhea 3
Variation info
Gene SPINT2
CLNDBN Diarrhea 3, secretory sodium, congenital, syndromic
Reversed 0
HGVS NC_000019.9:g.38780922T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005517.3,