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rs1057516338

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516338(-;-)
Make rs1057516338(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130494874
GeneASS1, LOC105376294
is asnp
is mentioned by
dbSNPrs1057516338
dbSNP (old)rs1057516338
ClinGenrs1057516338
ebirs1057516338
HLIrs1057516338
Exacrs1057516338
Gnomadrs1057516338
Varsomers1057516338
Maprs1057516338
PheGenIrs1057516338
Biobankrs1057516338
1000 genomesrs1057516338
hgdprs1057516338
ensemblrs1057516338
gopubmedrs1057516338
geneviewrs1057516338
scholarrs1057516338
googlers1057516338
pharmgkbrs1057516338
gwascentralrs1057516338
openSNPrs1057516338
23andMers1057516338
23andMe allrs1057516338
SNPshotrs1057516338
SNPdbers1057516338
MSV3drs1057516338
GWAS Ctlgrs1057516338
Max Magnitude0
ClinVar
Risk rs1057516338(-;-)
Alt rs1057516338(-;-)
Reference Rs1057516338(G;G)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133370261delG
CLNSRC
CLNACC RCV000411785.1,