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rs104893938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893938(C;C)
Make rs104893938(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position147831576
GeneSPINK1
is asnp
is mentioned by
dbSNPrs104893938
dbSNP (classic)rs104893938
ClinGenrs104893938
ebirs104893938
HLIrs104893938
Exacrs104893938
Gnomadrs104893938
Varsomers104893938
LitVarrs104893938
Maprs104893938
PheGenIrs104893938
Biobankrs104893938
1000 genomesrs104893938
hgdprs104893938
ensemblrs104893938
geneviewrs104893938
scholarrs104893938
googlers104893938
pharmgkbrs104893938
gwascentralrs104893938
openSNPrs104893938
23andMers104893938
SNPshotrs104893938
SNPdbers104893938
MSV3drs104893938
GWAS Ctlgrs104893938
Merged fromRs28935768
Max Magnitude0
OMIM167790
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893938(C;C)
Alt rs104893938(C;C)
Reference Rs104893938(T;T)
Significance Pathogenic
Disease Hereditary pancreatitis
Variation info
Gene SPINK1
CLNDBN Hereditary pancreatitis
Reversed 1
HGVS NC_000005.9:g.147211139A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014771.3,