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rs147611168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a Glutaric aciduria type I mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a Glutaric aciduria type I mutation


Make rs147611168(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position12897860
GeneGCDH, SYCE2
is asnp
is mentioned by
dbSNPrs147611168
dbSNP (classic)rs147611168
ClinGenrs147611168
ebirs147611168
HLIrs147611168
Exacrs147611168
Gnomadrs147611168
Varsomers147611168
LitVarrs147611168
Maprs147611168
PheGenIrs147611168
Biobankrs147611168
1000 genomesrs147611168
hgdprs147611168
ensemblrs147611168
geneviewrs147611168
scholarrs147611168
googlers147611168
pharmgkbrs147611168
gwascentralrs147611168
openSNPrs147611168
23andMers147611168
SNPshotrs147611168
SNPdbers147611168
MSV3drs147611168
GWAS Ctlgrs147611168
Max Magnitude3
ClinVar
Risk rs147611168(A;A)
Alt rs147611168(A;A)
Reference Rs147611168(G;G)
Significance Pathogenic
Disease not provided Glutaric aciduria
Variation info
Gene GCDH
CLNDBN not provided Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13008674G>A
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000153312.2, RCV000173984.1,