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rs104894873

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894873(A;A)
Make rs104894873(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position43949817
GeneNDP
is asnp
is mentioned by
dbSNPrs104894873
dbSNP (classic)rs104894873
ClinGenrs104894873
ebirs104894873
HLIrs104894873
Exacrs104894873
Gnomadrs104894873
Varsomers104894873
LitVarrs104894873
Maprs104894873
PheGenIrs104894873
Biobankrs104894873
1000 genomesrs104894873
hgdprs104894873
ensemblrs104894873
geneviewrs104894873
scholarrs104894873
googlers104894873
pharmgkbrs104894873
gwascentralrs104894873
openSNPrs104894873
23andMers104894873
SNPshotrs104894873
SNPdbers104894873
MSV3drs104894873
GWAS Ctlgrs104894873
Max Magnitude0
OMIM300658
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894873(A;A) rs104894873(T;T)
Alt rs104894873(A;A) rs104894873(T;T)
Reference Rs104894873(C;C)
Significance Pathogenic
Disease Atrophia bulborum hereditaria not provided
Variation info
Gene NDP
CLNDBN Atrophia bulborum hereditaria not provided
Reversed 1
HGVS NC_000023.10:g.43809063G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011432.5, RCV000418772.1,