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rs200214298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200214298(A;A)
Make rs200214298(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position210579729
GeneCPS1
is asnp
is mentioned by
dbSNPrs200214298
dbSNP (old)rs200214298
ClinGenrs200214298
ebirs200214298
HLIrs200214298
Exacrs200214298
Gnomadrs200214298
Varsomers200214298
Maprs200214298
PheGenIrs200214298
Biobankrs200214298
1000 genomesrs200214298
hgdprs200214298
ensemblrs200214298
gopubmedrs200214298
geneviewrs200214298
scholarrs200214298
googlers200214298
pharmgkbrs200214298
gwascentralrs200214298
openSNPrs200214298
23andMers200214298
23andMe allrs200214298
SNPshotrs200214298
SNPdbers200214298
MSV3drs200214298
GWAS Ctlgrs200214298
Max Magnitude0
ClinVar
Risk rs200214298(A;A) rs200214298(T;T)
Alt rs200214298(A;A) rs200214298(T;T)
Reference Rs200214298(G;G)
Significance Pathogenic
Disease Congenital hyperammonemia
Variation info
Gene CPS1
CLNDBN Congenital hyperammonemia, type I
Reversed 0
HGVS NC_000002.11:g.211444453G>T
CLNSRC
CLNACC RCV000317058.1,