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rs199938613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Unaffected carrier of one bad argininosuccinate lyase allele
(T;T) 8 Argininosuccinate lyase deficiency
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position66083164
GeneASL
is asnp
is mentioned by
dbSNPrs199938613
ebirs199938613
HLIrs199938613
Exacrs199938613
Varsomers199938613
Maprs199938613
PheGenIrs199938613
hapmaprs199938613
1000 genomesrs199938613
hgdprs199938613
ensemblrs199938613
gopubmedrs199938613
geneviewrs199938613
scholarrs199938613
googlers199938613
pharmgkbrs199938613
gwascentralrs199938613
openSNPrs199938613
23andMers199938613
23andMe allrs199938613
SNP Nexus

SNPshotrs199938613
SNPdbers199938613
MSV3drs199938613
GWAS Ctlgrs199938613
Max Magnitude8

c.436C>T, p.Arg146Trp or R146W

ClinVar
Risk rs199938613(T;T)
Alt rs199938613(T;T)
Reference rs199938613(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene ASL
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.65548151C>T
CLNSRC
CLNACC RCV000185777.1,