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rs1060499665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499665(C;T)
Make rs1060499665(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position45089792
GeneKDM6A
is asnp
is mentioned by
dbSNPrs1060499665
dbSNP (classic)rs1060499665
ClinGenrs1060499665
ebirs1060499665
HLIrs1060499665
Exacrs1060499665
Gnomadrs1060499665
Varsomers1060499665
LitVarrs1060499665
Maprs1060499665
PheGenIrs1060499665
Biobankrs1060499665
1000 genomesrs1060499665
hgdprs1060499665
ensemblrs1060499665
geneviewrs1060499665
scholarrs1060499665
googlers1060499665
pharmgkbrs1060499665
gwascentralrs1060499665
openSNPrs1060499665
23andMers1060499665
23andMe allrs1060499665
SNPshotrs1060499665
SNPdbers1060499665
MSV3drs1060499665
GWAS Ctlgrs1060499665
Max Magnitude0
ClinVar
Risk rs1060499665(T;T)
Alt rs1060499665(T;T)
Reference Rs1060499665(C;C)
Significance Probable-Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44949037C>T
CLNSRC
CLNACC RCV000449529.1,