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rs72552297

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0.1 Good if from 23andMe; bad otherwise (see explanation)
(-;AACA) 3 Carrier of an ornithine transcarbamylase deficiency (OTD) mutation
(AAAC;AAAC) 0 common in clinvar
(AACA;AACA) 0 common in clinvar
(I;I) 0 common genotype
ReferenceGRCh38 38.1/141
ChromosomeX
Position38352724
GeneOTC
is asnp
is mentioned by
dbSNPrs72552297
dbSNP (classic)rs72552297
ClinGenrs72552297
ebirs72552297
HLIrs72552297
Exacrs72552297
Gnomadrs72552297
Varsomers72552297
LitVarrs72552297
Maprs72552297
PheGenIrs72552297
Biobankrs72552297
1000 genomesrs72552297
hgdprs72552297
ensemblrs72552297
geneviewrs72552297
scholarrs72552297
googlers72552297
pharmgkbrs72552297
gwascentralrs72552297
openSNPrs72552297
23andMers72552297
SNPshotrs72552297
SNPdbers72552297
MSV3drs72552297
GWAS Ctlgrs72552297
Max Magnitude3

aka c.28_31delAACA (p.Asn10Metfs)


ClinVar
Risk Rs72552297(-;-)
Alt Rs72552297(-;-)
Reference Rs72552297(AAAC;AAAC)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38211977_38211980delAACA
CLNSRC ClinVar
CLNACC RCV000083390.1,