rs121912983

Orientation

minus

Stabilized

minus

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

Make rs121912983(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

113389088

Gene

ALAD

is a	snp
is	mentioned by
dbSNP	rs121912983
dbSNP (classic)	rs121912983
ClinGen	rs121912983
ebi	rs121912983
HLI	rs121912983
Exac	rs121912983
Gnomad	rs121912983
Varsome	rs121912983
LitVar	rs121912983
Map	rs121912983
PheGenI	rs121912983
Biobank	rs121912983
1000 genomes	rs121912983
hgdp	rs121912983
ensembl	rs121912983
geneview	rs121912983
scholar	rs121912983
google	rs121912983
pharmgkb	rs121912983
gwascentral	rs121912983
openSNP	rs121912983
23andMe	rs121912983
SNPshot	rs121912983
SNPdbe	rs121912983
MSV3d	rs121912983
GWAS Ctlg	rs121912983

Max Magnitude

3

OMIM	125270
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912983(A;A)
Alt	rs121912983(A;A)
Reference	Rs121912983(G;G)
Significance	Pathogenic
Disease	Porphobilinogen synthase deficiency
Variation	info
Gene	ALAD
CLNDBN	Porphobilinogen synthase deficiency
Reversed	1
HGVS	NC_000009.11:g.116151368C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018362.28,