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rs1057517259

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517259(G;T)
Make rs1057517259(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130471484
GeneASS1
is asnp
is mentioned by
dbSNPrs1057517259
dbSNP (old)rs1057517259
ClinGenrs1057517259
ebirs1057517259
HLIrs1057517259
Exacrs1057517259
Gnomadrs1057517259
Varsomers1057517259
Maprs1057517259
PheGenIrs1057517259
Biobankrs1057517259
1000 genomesrs1057517259
hgdprs1057517259
ensemblrs1057517259
gopubmedrs1057517259
geneviewrs1057517259
scholarrs1057517259
googlers1057517259
pharmgkbrs1057517259
gwascentralrs1057517259
openSNPrs1057517259
23andMers1057517259
23andMe allrs1057517259
SNPshotrs1057517259
SNPdbers1057517259
MSV3drs1057517259
GWAS Ctlgrs1057517259
Max Magnitude0
ClinVar
Risk rs1057517259(T;T)
Alt rs1057517259(T;T)
Reference Rs1057517259(G;G)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133346871G>T
CLNSRC
CLNACC RCV000410192.1,