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rs370595480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370595480(A;A)
Make rs370595480(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130480416
GeneASS1
is asnp
is mentioned by
dbSNPrs370595480
dbSNP (classic)rs370595480
ClinGenrs370595480
ebirs370595480
HLIrs370595480
Exacrs370595480
Gnomadrs370595480
Varsomers370595480
LitVarrs370595480
Maprs370595480
PheGenIrs370595480
Biobankrs370595480
1000 genomesrs370595480
hgdprs370595480
ensemblrs370595480
geneviewrs370595480
scholarrs370595480
googlers370595480
pharmgkbrs370595480
gwascentralrs370595480
openSNPrs370595480
23andMers370595480
23andMe allrs370595480
SNPshotrs370595480
SNPdbers370595480
MSV3drs370595480
GWAS Ctlgrs370595480
Max Magnitude0
ClinVar
Risk rs370595480(A;A)
Alt rs370595480(A;A)
Reference Rs370595480(G;G)
Significance Pathogenic
Disease Citrullinemia type I not provided
Variation info
Gene ASS1
CLNDBN Citrullinemia type I not provided
Reversed 0
HGVS NC_000009.11:g.133355803G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000174211.1, RCV000412912.1,