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rs137852220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852220(G;T)
Make rs137852220(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position43949839
GeneNDP
is asnp
is mentioned by
dbSNPrs137852220
ebirs137852220
HLIrs137852220
Exacrs137852220
Varsomers137852220
Maprs137852220
PheGenIrs137852220
hapmaprs137852220
1000 genomesrs137852220
hgdprs137852220
ensemblrs137852220
gopubmedrs137852220
geneviewrs137852220
scholarrs137852220
googlers137852220
pharmgkbrs137852220
gwascentralrs137852220
openSNPrs137852220
23andMers137852220
23andMe allrs137852220
SNP Nexus

SNPshotrs137852220
SNPdbers137852220
MSV3drs137852220
GWAS Ctlgrs137852220
Max Magnitude0
OMIM300658
Desc
Variant0017
Relatedalso
ClinVar
Risk rs137852220(T;T)
Alt rs137852220(T;T)
Reference rs137852220(G;G)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene NDP
CLNDBN Familial exudative vitreoretinopathy, X-linked
Reversed 1
HGVS NC_000023.10:g.43809085C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011441.4,