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rs727502824

From SNPedia

Orientationplus
Geno Mag Summary
(GGT;GGT) 0 common in clinvar
Make rs727502824(-;-)
Make rs727502824(-;GTG)
Make rs727502824(GTG;GTG)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position210642561
GeneCPS1
is asnp
is mentioned by
dbSNPrs727502824
ebirs727502824
HLIrs727502824
Exacrs727502824
Varsomers727502824
Maprs727502824
PheGenIrs727502824
hapmaprs727502824
1000 genomesrs727502824
hgdprs727502824
ensemblrs727502824
gopubmedrs727502824
geneviewrs727502824
scholarrs727502824
googlers727502824
pharmgkbrs727502824
gwascentralrs727502824
openSNPrs727502824
23andMers727502824
23andMe allrs727502824
SNP Nexus

SNPshotrs727502824
SNPdbers727502824
MSV3drs727502824
GWAS Ctlgrs727502824
Max Magnitude0
ClinVar
Risk rs727502824(;)
Alt rs727502824(;)
Reference rs727502824(GGT;GGT)
Significance Pathogenic
Disease Congenital hyperammonemia
Variation info
Gene CPS1
CLNDBN Congenital hyperammonemia, type I
Reversed 0
HGVS NC_000002.11:g.211507285_211507287delGTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000149915.4,