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rs786205256

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205256(-;-)
Make rs786205256(-;C)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position17727628
GeneNHS
is asnp
is mentioned by
dbSNPrs786205256
dbSNP (classic)rs786205256
ClinGenrs786205256
ebirs786205256
HLIrs786205256
Exacrs786205256
Gnomadrs786205256
Varsomers786205256
LitVarrs786205256
Maprs786205256
PheGenIrs786205256
Biobankrs786205256
1000 genomesrs786205256
hgdprs786205256
ensemblrs786205256
geneviewrs786205256
scholarrs786205256
googlers786205256
pharmgkbrs786205256
gwascentralrs786205256
openSNPrs786205256
23andMers786205256
SNPshotrs786205256
SNPdbers786205256
MSV3drs786205256
GWAS Ctlgrs786205256
Max Magnitude0
ClinVar
Risk rs786205256(-;-)
Alt rs786205256(-;-)
Reference Rs786205256(C;C)
Significance Pathogenic
Disease Nance-Horan syndrome
Variation info
Gene NHS
CLNDBN Nance-Horan syndrome
Reversed 0
HGVS NC_000023.10:g.17745748delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000011771.10,