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rs28933685

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28933685(A;G)
Make rs28933685(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position43958645
GeneNDP
is asnp
is mentioned by
dbSNPrs28933685
ebirs28933685
HLIrs28933685
Exacrs28933685
Varsomers28933685
Maprs28933685
PheGenIrs28933685
hapmaprs28933685
1000 genomesrs28933685
hgdprs28933685
ensemblrs28933685
gopubmedrs28933685
geneviewrs28933685
scholarrs28933685
googlers28933685
pharmgkbrs28933685
gwascentralrs28933685
openSNPrs28933685
23andMers28933685
23andMe allrs28933685
SNP Nexus

SNPshotrs28933685
SNPdbers28933685
MSV3drs28933685
GWAS Ctlgrs28933685
Max Magnitude0
OMIM310600
DescNORRIE DISEASE
Variant0009
Relatedalso
Neighborrs28933684
Distance8814
OMIM300658
Desc
Variant0009
Relatedalso


ClinVar
Risk rs28933685(G;G)
Alt rs28933685(G;G)
Reference rs28933685(A;A)
Significance Pathogenic
Disease Atrophia bulborum hereditaria
Variation info
Gene NDP
CLNDBN Atrophia bulborum hereditaria
Reversed 1
HGVS NC_000023.10:g.43817891T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011433.2,