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rs1060502176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502176(C;G)
Make rs1060502176(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position100407891
GenePCDH19
is asnp
is mentioned by
dbSNPrs1060502176
dbSNP (old)rs1060502176
ClinGenrs1060502176
ebirs1060502176
HLIrs1060502176
Exacrs1060502176
Gnomadrs1060502176
Varsomers1060502176
Maprs1060502176
PheGenIrs1060502176
Biobankrs1060502176
1000 genomesrs1060502176
hgdprs1060502176
ensemblrs1060502176
gopubmedrs1060502176
geneviewrs1060502176
scholarrs1060502176
googlers1060502176
pharmgkbrs1060502176
gwascentralrs1060502176
openSNPrs1060502176
23andMers1060502176
23andMe allrs1060502176
SNPshotrs1060502176
SNPdbers1060502176
MSV3drs1060502176
GWAS Ctlgrs1060502176
Max Magnitude0
ClinVar
Risk rs1060502176(G;G)
Alt rs1060502176(G;G)
Reference Rs1060502176(C;C)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 9 not provided
Variation info
Gene PCDH19
CLNDBN Early infantile epileptic encephalopathy 9 not provided
Reversed 1
HGVS NC_000023.10:g.99662889G>C
CLNSRC
CLNACC RCV000476281.1, RCV000480604.1,