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rs104894880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894880(C;T)
Make rs104894880(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position43950020
GeneNDP
is asnp
is mentioned by
dbSNPrs104894880
ebirs104894880
HLIrs104894880
Exacrs104894880
Varsomers104894880
Maprs104894880
PheGenIrs104894880
hapmaprs104894880
1000 genomesrs104894880
hgdprs104894880
ensemblrs104894880
gopubmedrs104894880
geneviewrs104894880
scholarrs104894880
googlers104894880
pharmgkbrs104894880
gwascentralrs104894880
openSNPrs104894880
23andMers104894880
23andMe allrs104894880
SNP Nexus

SNPshotrs104894880
SNPdbers104894880
MSV3drs104894880
GWAS Ctlgrs104894880
Max Magnitude0
OMIM300658
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894880(T;T)
Alt rs104894880(T;T)
Reference rs104894880(C;C)
Significance Pathogenic
Disease Atrophia bulborum hereditaria
Variation info
Gene NDP
CLNDBN Atrophia bulborum hereditaria
Reversed 1
HGVS NC_000023.10:g.43809266G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011436.5,