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rs1060499778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060499778(A;C)
Make rs1060499778(C;C)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position23379781
GenePTCHD1
is asnp
is mentioned by
dbSNPrs1060499778
dbSNP (old)rs1060499778
ClinGenrs1060499778
ebirs1060499778
HLIrs1060499778
Exacrs1060499778
Gnomadrs1060499778
Varsomers1060499778
Maprs1060499778
PheGenIrs1060499778
Biobankrs1060499778
1000 genomesrs1060499778
hgdprs1060499778
ensemblrs1060499778
gopubmedrs1060499778
geneviewrs1060499778
scholarrs1060499778
googlers1060499778
pharmgkbrs1060499778
gwascentralrs1060499778
openSNPrs1060499778
23andMers1060499778
23andMe allrs1060499778
SNPshotrs1060499778
SNPdbers1060499778
MSV3drs1060499778
GWAS Ctlgrs1060499778
Max Magnitude0
ClinVar
Risk rs1060499778(C;C)
Alt rs1060499778(C;C)
Reference Rs1060499778(A;A)
Significance Probable-Pathogenic
Disease Abnormality of brain morphology
Variation info
Gene PTCHD1
CLNDBN Abnormality of brain morphology
Reversed 0
HGVS NC_000023.10:g.23397898A>C
CLNSRC
CLNACC RCV000454174.1,