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rs104894876

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894876(G;G)
Make rs104894876(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position43949873
GeneNDP
is asnp
is mentioned by
dbSNPrs104894876
dbSNP (classic)rs104894876
ClinGenrs104894876
ebirs104894876
HLIrs104894876
Exacrs104894876
Gnomadrs104894876
Varsomers104894876
LitVarrs104894876
Maprs104894876
PheGenIrs104894876
Biobankrs104894876
1000 genomesrs104894876
hgdprs104894876
ensemblrs104894876
geneviewrs104894876
scholarrs104894876
googlers104894876
pharmgkbrs104894876
gwascentralrs104894876
openSNPrs104894876
23andMers104894876
SNPshotrs104894876
SNPdbers104894876
MSV3drs104894876
GWAS Ctlgrs104894876
Max Magnitude0
OMIM300658
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894876(G;G)
Alt rs104894876(G;G)
Reference Rs104894876(T;T)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene NDP
CLNDBN Familial exudative vitreoretinopathy, X-linked
Reversed 1
HGVS NC_000023.10:g.43809119A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011440.4,