Rs104894186

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894186(C;T)
Make rs104894186(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position23193805
GenePTF1A
is asnp
is mentioned by
dbSNPrs104894186
PheGenIrs104894186
nextbiors104894186
hapmaprs104894186
1000 genomesrs104894186
hgdprs104894186
ensemblrs104894186
gopubmedrs104894186
geneviewrs104894186
scholarrs104894186
googlers104894186
pharmgkbrs104894186
gwascentralrs104894186
openSNPrs104894186
23andMers104894186
23andMe allrs104894186
SNP Nexus

SNPshotrs104894186
SNPdbers104894186
MSV3drs104894186
Max Magnitude0
OMIM607194
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894186(T;T)
Alt rs104894186(T;T)
Reference rs104894186(C;C)
Significance Pathogenic
Disease Diabetes mellitus
Variation info
Gene PTF1A
CLNDBN Diabetes mellitus, permanent neonatal, with cerebellar agenesis
Reversed 0
HGVS NC_000010.10:g.23482734C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003594.1,