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rs749066913

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs749066913(A;A)
Make rs749066913(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position113391634
GeneALAD
is asnp
is mentioned by
dbSNPrs749066913
ebirs749066913
HLIrs749066913
Exacrs749066913
Varsomers749066913
Maprs749066913
PheGenIrs749066913
hapmaprs749066913
1000 genomesrs749066913
hgdprs749066913
ensemblrs749066913
gopubmedrs749066913
geneviewrs749066913
scholarrs749066913
googlers749066913
pharmgkbrs749066913
gwascentralrs749066913
openSNPrs749066913
23andMers749066913
23andMe allrs749066913
SNP Nexus

SNPshotrs749066913
SNPdbers749066913
MSV3drs749066913
GWAS Ctlgrs749066913
Max Magnitude0
ClinVar
Risk rs749066913(A;A)
Alt rs749066913(A;A)
Reference rs749066913(G;G)
Significance Pathogenic
Disease Porphobilinogen synthase deficiency
Variation info
Gene ALAD
CLNDBN Porphobilinogen synthase deficiency
Reversed 0
HGVS NC_000009.11:g.116153914G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018365.24,