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rs104894883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894883(C;T)
Make rs104894883(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position43949899
GeneNDP
is asnp
is mentioned by
dbSNPrs104894883
ebirs104894883
HLIrs104894883
Exacrs104894883
Varsomers104894883
Maprs104894883
PheGenIrs104894883
hapmaprs104894883
1000 genomesrs104894883
hgdprs104894883
ensemblrs104894883
gopubmedrs104894883
geneviewrs104894883
scholarrs104894883
googlers104894883
pharmgkbrs104894883
gwascentralrs104894883
openSNPrs104894883
23andMers104894883
23andMe allrs104894883
SNP Nexus

SNPshotrs104894883
SNPdbers104894883
MSV3drs104894883
GWAS Ctlgrs104894883
Max Magnitude0
OMIM300658
Desc
Variant0021
Relatedalso
ClinVar
Risk rs104894883(T;T)
Alt rs104894883(T;T)
Reference rs104894883(C;C)
Significance Pathogenic
Disease Atrophia bulborum hereditaria
Variation info
Gene NDP
CLNDBN Atrophia bulborum hereditaria
Reversed 1
HGVS NC_000023.10:g.43809145G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011445.4,