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rs1057517402

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517402(A;A)
Make rs1057517402(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130495024
GeneASS1, LOC105376294
is asnp
is mentioned by
dbSNPrs1057517402
dbSNP (old)rs1057517402
ClinGenrs1057517402
ebirs1057517402
HLIrs1057517402
Exacrs1057517402
Gnomadrs1057517402
Varsomers1057517402
Maprs1057517402
PheGenIrs1057517402
Biobankrs1057517402
1000 genomesrs1057517402
hgdprs1057517402
ensemblrs1057517402
gopubmedrs1057517402
geneviewrs1057517402
scholarrs1057517402
googlers1057517402
pharmgkbrs1057517402
gwascentralrs1057517402
openSNPrs1057517402
23andMers1057517402
23andMe allrs1057517402
SNPshotrs1057517402
SNPdbers1057517402
MSV3drs1057517402
GWAS Ctlgrs1057517402
Max Magnitude0
ClinVar
Risk rs1057517402(A;A)
Alt rs1057517402(A;A)
Reference Rs1057517402(G;G)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133370411G>A
CLNSRC
CLNACC RCV000411642.1,