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rs104894869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894869(A;A)
Make rs104894869(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position43950022
GeneNDP
is asnp
is mentioned by
dbSNPrs104894869
ebirs104894869
HLIrs104894869
Exacrs104894869
Varsomers104894869
Maprs104894869
PheGenIrs104894869
hapmaprs104894869
1000 genomesrs104894869
hgdprs104894869
ensemblrs104894869
gopubmedrs104894869
geneviewrs104894869
scholarrs104894869
googlers104894869
pharmgkbrs104894869
gwascentralrs104894869
openSNPrs104894869
23andMers104894869
23andMe allrs104894869
SNP Nexus

SNPshotrs104894869
SNPdbers104894869
MSV3drs104894869
GWAS Ctlgrs104894869
Max Magnitude0
OMIM300658
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894869(A;A)
Alt rs104894869(A;A)
Reference rs104894869(T;T)
Significance Pathogenic
Disease Atrophia bulborum hereditaria
Variation info
Gene NDP
CLNDBN Atrophia bulborum hereditaria
Reversed 1
HGVS NC_000023.10:g.43809268A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011427.5,