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rs132630322

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630322(C;T)
Make rs132630322(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position17724370
GeneNHS
is asnp
is mentioned by
dbSNPrs132630322
ebirs132630322
HLIrs132630322
Exacrs132630322
Varsomers132630322
Maprs132630322
PheGenIrs132630322
hapmaprs132630322
1000 genomesrs132630322
hgdprs132630322
ensemblrs132630322
gopubmedrs132630322
geneviewrs132630322
scholarrs132630322
googlers132630322
pharmgkbrs132630322
gwascentralrs132630322
openSNPrs132630322
23andMers132630322
23andMe allrs132630322
SNP Nexus

SNPshotrs132630322
SNPdbers132630322
MSV3drs132630322
GWAS Ctlgrs132630322
Max Magnitude0
OMIM300457
Desc
Variant0003
Relatedalso
ClinVar
Risk rs132630322(T;T)
Alt rs132630322(T;T)
Reference rs132630322(C;C)
Significance Pathogenic
Disease Nance-Horan syndrome not provided
Variation info
Gene NHS
CLNDBN Nance-Horan syndrome not provided
Reversed 0
HGVS NC_000023.10:g.17742490C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011772.10, RCV000082793.4,