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rs397514628

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514628(C;T)
Make rs397514628(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position45063449
GeneKDM6A
is asnp
is mentioned by
dbSNPrs397514628
ebirs397514628
HLIrs397514628
Exacrs397514628
Varsomers397514628
Maprs397514628
PheGenIrs397514628
hapmaprs397514628
1000 genomesrs397514628
hgdprs397514628
ensemblrs397514628
gopubmedrs397514628
geneviewrs397514628
scholarrs397514628
googlers397514628
pharmgkbrs397514628
gwascentralrs397514628
openSNPrs397514628
23andMers397514628
23andMe allrs397514628
SNP Nexus

SNPshotrs397514628
SNPdbers397514628
MSV3drs397514628
GWAS Ctlgrs397514628
Max Magnitude0
ClinVar
Risk rs397514628(T;T)
Alt rs397514628(T;T)
Reference rs397514628(C;C)
Significance Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44922694C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033120.18,