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rs786204648

From SNPedia

Orientationplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs786204648(-;-)
Make rs786204648(-;CT)
Make rs786204648(CT;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position130466754
GeneASS1
is asnp
is mentioned by
dbSNPrs786204648
ebirs786204648
HLIrs786204648
Exacrs786204648
Varsomers786204648
Maprs786204648
PheGenIrs786204648
hapmaprs786204648
1000 genomesrs786204648
hgdprs786204648
ensemblrs786204648
gopubmedrs786204648
geneviewrs786204648
scholarrs786204648
googlers786204648
pharmgkbrs786204648
gwascentralrs786204648
openSNPrs786204648
23andMers786204648
23andMe allrs786204648
SNP Nexus

SNPshotrs786204648
SNPdbers786204648
MSV3drs786204648
GWAS Ctlgrs786204648
Max Magnitude0
ClinVar
Risk rs786204648(;)
Alt rs786204648(;)
Reference rs786204648(TC;TC)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133342141_133342142delCT
CLNSRC
CLNACC RCV000169436.1,