rs121912981

Orientation

minus

Stabilized

minus

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

Make rs121912981(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

113389085

Gene

ALAD

is a	snp
is	mentioned by
dbSNP	rs121912981
dbSNP (classic)	rs121912981
ClinGen	rs121912981
ebi	rs121912981
HLI	rs121912981
Exac	rs121912981
Gnomad	rs121912981
Varsome	rs121912981
LitVar	rs121912981
Map	rs121912981
PheGenI	rs121912981
Biobank	rs121912981
1000 genomes	rs121912981
hgdp	rs121912981
ensembl	rs121912981
geneview	rs121912981
scholar	rs121912981
google	rs121912981
pharmgkb	rs121912981
gwascentral	rs121912981
openSNP	rs121912981
23andMe	rs121912981
SNPshot	rs121912981
SNPdbe	rs121912981
MSV3d	rs121912981
GWAS Ctlg	rs121912981

Max Magnitude

3

OMIM	125270
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912981(A;A)
Alt	rs121912981(A;A)
Reference	Rs121912981(G;G)
Significance	Pathogenic
Disease	Porphobilinogen synthase deficiency
Variation	info
Gene	ALAD
CLNDBN	Porphobilinogen synthase deficiency
Reversed	1
HGVS	NC_000009.11:g.116151365C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018359.24,