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rs104893939

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893939(C;C)
Make rs104893939(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position147831537
GeneSPINK1
is asnp
is mentioned by
dbSNPrs104893939
ebirs104893939
HLIrs104893939
Exacrs104893939
Varsomers104893939
Maprs104893939
PheGenIrs104893939
hapmaprs104893939
1000 genomesrs104893939
hgdprs104893939
ensemblrs104893939
gopubmedrs104893939
geneviewrs104893939
scholarrs104893939
googlers104893939
pharmgkbrs104893939
gwascentralrs104893939
openSNPrs104893939
23andMers104893939
23andMe allrs104893939
SNP Nexus

SNPshotrs104893939
SNPdbers104893939
MSV3drs104893939
GWAS Ctlgrs104893939
Max Magnitude0
OMIM167790
Desc
Variant0006
Relatedalso
OMIM167790
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893939(C,G;C,G)
Alt rs104893939(C,G;C,G)
Reference rs104893939(T;T)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene SPINK1
CLNDBN Hereditary pancreatitis
Reversed 1
HGVS NC_000005.9:g.147211100A>C; NC_000005.9:g.147211100A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014775.25, RCV000014774.25,