rs749066913

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of an ALAD deficiency porphyria mutation
(G;G)	0	common in clinvar

Make rs749066913(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

113391634

Gene

ALAD

is a	snp
is	mentioned by
dbSNP	rs749066913
dbSNP (classic)	rs749066913
ClinGen	rs749066913
ebi	rs749066913
HLI	rs749066913
Exac	rs749066913
Gnomad	rs749066913
Varsome	rs749066913
LitVar	rs749066913
Map	rs749066913
PheGenI	rs749066913
Biobank	rs749066913
1000 genomes	rs749066913
hgdp	rs749066913
ensembl	rs749066913
geneview	rs749066913
scholar	rs749066913
google	rs749066913
pharmgkb	rs749066913
gwascentral	rs749066913
openSNP	rs749066913
23andMe	rs749066913
SNPshot	rs749066913
SNPdbe	rs749066913
MSV3d	rs749066913
GWAS Ctlg	rs749066913

Max Magnitude

3

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,