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rs104894874

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894874(A;G)
Make rs104894874(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position43958521
GeneNDP
is asnp
is mentioned by
dbSNPrs104894874
dbSNP (classic)rs104894874
ClinGenrs104894874
ebirs104894874
HLIrs104894874
Exacrs104894874
Gnomadrs104894874
Varsomers104894874
LitVarrs104894874
Maprs104894874
PheGenIrs104894874
Biobankrs104894874
1000 genomesrs104894874
hgdprs104894874
ensemblrs104894874
geneviewrs104894874
scholarrs104894874
googlers104894874
pharmgkbrs104894874
gwascentralrs104894874
openSNPrs104894874
23andMers104894874
SNPshotrs104894874
SNPdbers104894874
MSV3drs104894874
GWAS Ctlgrs104894874
Max Magnitude0
OMIM300658
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894874(G;G)
Alt rs104894874(G;G)
Reference Rs104894874(A;A)
Significance Pathogenic
Disease Exudative vitreoretinopathy
Variation info
Gene NDP
CLNDBN Exudative vitreoretinopathy, X-linked
Reversed 1
HGVS NC_000023.10:g.43817767T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011437.4,