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rs1057516339

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516339(C;T)
Make rs1057516339(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130464159
GeneASS1
is asnp
is mentioned by
dbSNPrs1057516339
dbSNP (old)rs1057516339
ClinGenrs1057516339
ebirs1057516339
HLIrs1057516339
Exacrs1057516339
Gnomadrs1057516339
Varsomers1057516339
Maprs1057516339
PheGenIrs1057516339
Biobankrs1057516339
1000 genomesrs1057516339
hgdprs1057516339
ensemblrs1057516339
gopubmedrs1057516339
geneviewrs1057516339
scholarrs1057516339
googlers1057516339
pharmgkbrs1057516339
gwascentralrs1057516339
openSNPrs1057516339
23andMers1057516339
23andMe allrs1057516339
SNPshotrs1057516339
SNPdbers1057516339
MSV3drs1057516339
GWAS Ctlgrs1057516339
Max Magnitude0
ClinVar
Risk rs1057516339(T;T)
Alt rs1057516339(T;T)
Reference Rs1057516339(C;C)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133339546C>T
CLNSRC
CLNACC RCV000409826.1,