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rs727504031

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504031(C;T)
Make rs727504031(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position43949981
GeneNDP
is asnp
is mentioned by
dbSNPrs727504031
ebirs727504031
HLIrs727504031
Exacrs727504031
Varsomers727504031
Maprs727504031
PheGenIrs727504031
hapmaprs727504031
1000 genomesrs727504031
hgdprs727504031
ensemblrs727504031
gopubmedrs727504031
geneviewrs727504031
scholarrs727504031
googlers727504031
pharmgkbrs727504031
gwascentralrs727504031
openSNPrs727504031
23andMers727504031
23andMe allrs727504031
SNP Nexus

SNPshotrs727504031
SNPdbers727504031
MSV3drs727504031
GWAS Ctlgrs727504031
Max Magnitude0
ClinVar
Risk rs727504031(T;T)
Alt rs727504031(T;T)
Reference rs727504031(C;C)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy Atrophia bulborum hereditaria
Variation info
Gene NDP
CLNDBN Familial exudative vitreoretinopathy, X-linked Atrophia bulborum hereditaria
Reversed 1
HGVS NC_000023.10:g.43809227G>A
CLNSRC HGMD
CLNACC RCV000153537.3, RCV000153538.4,