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rs104894878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894878(C;T)
Make rs104894878(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position43949840
GeneNDP
is asnp
is mentioned by
dbSNPrs104894878
ebirs104894878
HLIrs104894878
Exacrs104894878
Varsomers104894878
Maprs104894878
PheGenIrs104894878
hapmaprs104894878
1000 genomesrs104894878
hgdprs104894878
ensemblrs104894878
gopubmedrs104894878
geneviewrs104894878
scholarrs104894878
googlers104894878
pharmgkbrs104894878
gwascentralrs104894878
openSNPrs104894878
23andMers104894878
23andMe allrs104894878
SNP Nexus

SNPshotrs104894878
SNPdbers104894878
MSV3drs104894878
GWAS Ctlgrs104894878
Max Magnitude0
OMIM300658
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894878(T;T)
Alt rs104894878(T;T)
Reference rs104894878(C;C)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene NDP
CLNDBN Familial exudative vitreoretinopathy, X-linked
Reversed 1
HGVS NC_000023.10:g.43809086G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011434.5,