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rs1057516648

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516648(-;-)
Make rs1057516648(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130458452
GeneASS1
is asnp
is mentioned by
dbSNPrs1057516648
dbSNP (old)rs1057516648
ClinGenrs1057516648
ebirs1057516648
HLIrs1057516648
Exacrs1057516648
Gnomadrs1057516648
Varsomers1057516648
Maprs1057516648
PheGenIrs1057516648
Biobankrs1057516648
1000 genomesrs1057516648
hgdprs1057516648
ensemblrs1057516648
gopubmedrs1057516648
geneviewrs1057516648
scholarrs1057516648
googlers1057516648
pharmgkbrs1057516648
gwascentralrs1057516648
openSNPrs1057516648
23andMers1057516648
23andMe allrs1057516648
SNPshotrs1057516648
SNPdbers1057516648
MSV3drs1057516648
GWAS Ctlgrs1057516648
Max Magnitude0
ClinVar
Risk rs1057516648(-;-)
Alt rs1057516648(-;-)
Reference Rs1057516648(G;G)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133333839delG
CLNSRC
CLNACC RCV000411227.1,