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rs786204460

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204460(C;T)
Make rs786204460(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position130499515
GeneASS1, LOC105376294
is asnp
is mentioned by
dbSNPrs786204460
dbSNP (classic)rs786204460
ClinGenrs786204460
ebirs786204460
HLIrs786204460
Exacrs786204460
Gnomadrs786204460
Varsomers786204460
LitVarrs786204460
Maprs786204460
PheGenIrs786204460
Biobankrs786204460
1000 genomesrs786204460
hgdprs786204460
ensemblrs786204460
geneviewrs786204460
scholarrs786204460
googlers786204460
pharmgkbrs786204460
gwascentralrs786204460
openSNPrs786204460
23andMers786204460
SNPshotrs786204460
SNPdbers786204460
MSV3drs786204460
GWAS Ctlgrs786204460
Max Magnitude0
ClinVar
Risk rs786204460(T;T)
Alt rs786204460(T;T)
Reference Rs786204460(C;C)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133374902C>T
CLNSRC
CLNACC RCV000169103.1,