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rs111534978

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111534978(C;T)
Make rs111534978(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position17727793
GeneNHS
is asnp
is mentioned by
dbSNPrs111534978
dbSNP (classic)rs111534978
ClinGenrs111534978
ebirs111534978
HLIrs111534978
Exacrs111534978
Gnomadrs111534978
Varsomers111534978
LitVarrs111534978
Maprs111534978
PheGenIrs111534978
Biobankrs111534978
1000 genomesrs111534978
hgdprs111534978
ensemblrs111534978
geneviewrs111534978
scholarrs111534978
googlers111534978
pharmgkbrs111534978
gwascentralrs111534978
openSNPrs111534978
23andMers111534978
SNPshotrs111534978
SNPdbers111534978
MSV3drs111534978
GWAS Ctlgrs111534978
Max Magnitude0
ClinVar
Risk rs111534978(A;A) rs111534978(T;T)
Alt rs111534978(A;A) rs111534978(T;T)
Reference Rs111534978(C;C)
Significance Pathogenic
Disease Congenital cataract
Variation info
Gene NHS
CLNDBN Congenital cataract
Reversed 0
HGVS NC_000023.10:g.17745913C>A
CLNSRC
CLNACC RCV000203345.1,