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rs104894881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894881(C;T)
Make rs104894881(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position17375872
GeneNHS
is asnp
is mentioned by
dbSNPrs104894881
dbSNP (classic)rs104894881
ClinGenrs104894881
ebirs104894881
HLIrs104894881
Exacrs104894881
Gnomadrs104894881
Varsomers104894881
LitVarrs104894881
Maprs104894881
PheGenIrs104894881
Biobankrs104894881
1000 genomesrs104894881
hgdprs104894881
ensemblrs104894881
geneviewrs104894881
scholarrs104894881
googlers104894881
pharmgkbrs104894881
gwascentralrs104894881
openSNPrs104894881
23andMers104894881
SNPshotrs104894881
SNPdbers104894881
MSV3drs104894881
GWAS Ctlgrs104894881
Max Magnitude0
OMIM300457
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894881(T;T)
Alt rs104894881(T;T)
Reference Rs104894881(C;C)
Significance Pathogenic
Disease Nance-Horan syndrome
Variation info
Gene NHS
CLNDBN Nance-Horan syndrome
Reversed 0
HGVS NC_000023.10:g.17393995C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011774.7,