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rs72556255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 8.2 Ornithine Transcarbamylase Deficiency
(-;G) 3 Carrier of an ornithine carbamoyltransferase mutation
(G;G) 0 common in clinvar
(I;I) 0
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401291
GeneOTC
is asnp
is mentioned by
dbSNPrs72556255
dbSNP (classic)rs72556255
ClinGenrs72556255
ebirs72556255
HLIrs72556255
Exacrs72556255
Gnomadrs72556255
Varsomers72556255
LitVarrs72556255
Maprs72556255
PheGenIrs72556255
Biobankrs72556255
1000 genomesrs72556255
hgdprs72556255
ensemblrs72556255
geneviewrs72556255
scholarrs72556255
googlers72556255
pharmgkbrs72556255
gwascentralrs72556255
openSNPrs72556255
23andMers72556255
SNPshotrs72556255
SNPdbers72556255
MSV3drs72556255
GWAS Ctlgrs72556255
Max Magnitude8.2
ClinVar
Risk Rs72556255(-;-)
Alt Rs72556255(-;-)
Reference Rs72556255(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38260544delG
CLNSRC ClinVar
CLNACC RCV000083425.1,