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rs1057516960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516960(A;A)
Make rs1057516960(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130452231
GeneASS1
is asnp
is mentioned by
dbSNPrs1057516960
dbSNP (classic)rs1057516960
ClinGenrs1057516960
ebirs1057516960
HLIrs1057516960
Exacrs1057516960
Gnomadrs1057516960
Varsomers1057516960
LitVarrs1057516960
Maprs1057516960
PheGenIrs1057516960
Biobankrs1057516960
1000 genomesrs1057516960
hgdprs1057516960
ensemblrs1057516960
geneviewrs1057516960
scholarrs1057516960
googlers1057516960
pharmgkbrs1057516960
gwascentralrs1057516960
openSNPrs1057516960
23andMers1057516960
SNPshotrs1057516960
SNPdbers1057516960
MSV3drs1057516960
GWAS Ctlgrs1057516960
Max Magnitude0
ClinVar
Risk rs1057516960(A;A)
Alt rs1057516960(A;A)
Reference Rs1057516960(G;G)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133327618G>A
CLNSRC
CLNACC RCV000411464.1,