Have questions? Visit https://www.reddit.com/r/SNPedia

rs786205431

From SNPedia

Orientationminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs786205431(-;-)
Make rs786205431(-;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position23802526
GeneGALE, HMGCL
is asnp
is mentioned by
dbSNPrs786205431
ebirs786205431
HLIrs786205431
Exacrs786205431
Varsomers786205431
Maprs786205431
PheGenIrs786205431
hapmaprs786205431
1000 genomesrs786205431
hgdprs786205431
ensemblrs786205431
gopubmedrs786205431
geneviewrs786205431
scholarrs786205431
googlers786205431
pharmgkbrs786205431
gwascentralrs786205431
openSNPrs786205431
23andMers786205431
23andMe allrs786205431
SNP Nexus

SNPshotrs786205431
SNPdbers786205431
MSV3drs786205431
GWAS Ctlgrs786205431
Max Magnitude0
ClinVar
Risk rs786205431(;)
Alt rs786205431(;)
Reference rs786205431(TT;TT)
Significance Pathogenic
Disease Deficiency of hydroxymethylglutaryl-CoA lyase
Variation info
Gene HMGCL GALE
CLNDBN Deficiency of hydroxymethylglutaryl-CoA lyase
Reversed 1
HGVS NC_000001.10:g.24129016_24129017delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000032616.5,