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rs1060499653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499653(G;T)
Make rs1060499653(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position103785752
GenePLP1, RAB9B
is asnp
is mentioned by
dbSNPrs1060499653
dbSNP (old)rs1060499653
ClinGenrs1060499653
ebirs1060499653
HLIrs1060499653
Exacrs1060499653
Gnomadrs1060499653
Varsomers1060499653
Maprs1060499653
PheGenIrs1060499653
Biobankrs1060499653
1000 genomesrs1060499653
hgdprs1060499653
ensemblrs1060499653
gopubmedrs1060499653
geneviewrs1060499653
scholarrs1060499653
googlers1060499653
pharmgkbrs1060499653
gwascentralrs1060499653
openSNPrs1060499653
23andMers1060499653
23andMe allrs1060499653
SNPshotrs1060499653
SNPdbers1060499653
MSV3drs1060499653
GWAS Ctlgrs1060499653
Max Magnitude0
ClinVar
Risk rs1060499653(T;T)
Alt rs1060499653(T;T)
Reference Rs1060499653(G;G)
Significance Pathogenic
Disease Pelizaeus-Merzbacher disease
Variation info
Gene PLP1 RAB9B
CLNDBN Pelizaeus-Merzbacher disease
Reversed 0
HGVS NC_000023.10:g.103040681G>T
CLNSRC
CLNACC RCV000449517.1,