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rs104894346

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894346(C;C)
Make rs104894346(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49094511
GeneDHH
is asnp
is mentioned by
dbSNPrs104894346
ebirs104894346
HLIrs104894346
Exacrs104894346
Varsomers104894346
Maprs104894346
PheGenIrs104894346
hapmaprs104894346
1000 genomesrs104894346
hgdprs104894346
ensemblrs104894346
gopubmedrs104894346
geneviewrs104894346
scholarrs104894346
googlers104894346
pharmgkbrs104894346
gwascentralrs104894346
openSNPrs104894346
23andMers104894346
23andMe allrs104894346
SNP Nexus

SNPshotrs104894346
SNPdbers104894346
MSV3drs104894346
GWAS Ctlgrs104894346
Max Magnitude0
OMIM605423
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894346(C;C)
Alt rs104894346(C;C)
Reference rs104894346(T;T)
Significance Pathogenic
Disease 46
Variation info
Gene DHH
CLNDBN 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
Reversed 1
HGVS NC_000012.11:g.49488294A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005313.2,