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rs148918985

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148918985(C;T)
Make rs148918985(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position130480404
GeneASS1
is asnp
is mentioned by
dbSNPrs148918985
ebirs148918985
HLIrs148918985
Exacrs148918985
Varsomers148918985
Maprs148918985
PheGenIrs148918985
hapmaprs148918985
1000 genomesrs148918985
hgdprs148918985
ensemblrs148918985
gopubmedrs148918985
geneviewrs148918985
scholarrs148918985
googlers148918985
pharmgkbrs148918985
gwascentralrs148918985
openSNPrs148918985
23andMers148918985
23andMe allrs148918985
SNP Nexus

SNPshotrs148918985
SNPdbers148918985
MSV3drs148918985
GWAS Ctlgrs148918985
Max Magnitude0
ClinVar
Risk rs148918985(T;T)
Alt rs148918985(T;T)
Reference rs148918985(C;C)
Significance Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133355791C>T
CLNSRC HGMD
CLNACC RCV000078025.4,