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rs786204537

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204537(C;T)
Make rs786204537(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position130494926
GeneASS1, LOC105376294
is asnp
is mentioned by
dbSNPrs786204537
dbSNP (old)rs786204537
ClinGenrs786204537
ebirs786204537
HLIrs786204537
Exacrs786204537
Gnomadrs786204537
Varsomers786204537
Maprs786204537
PheGenIrs786204537
Biobankrs786204537
1000 genomesrs786204537
hgdprs786204537
ensemblrs786204537
gopubmedrs786204537
geneviewrs786204537
scholarrs786204537
googlers786204537
pharmgkbrs786204537
gwascentralrs786204537
openSNPrs786204537
23andMers786204537
23andMe allrs786204537
SNP Nexus

SNPshotrs786204537
SNPdbers786204537
MSV3drs786204537
GWAS Ctlgrs786204537
Max Magnitude0
ClinVar
Risk rs786204537(T;T)
Alt rs786204537(T;T)
Reference Rs786204537(C;C)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133370313C>T
CLNSRC
CLNACC RCV000169239.1,