rs121912982

Orientation

minus

Stabilized

minus

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

Make rs121912982(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

113389521

Gene

ALAD

is a	snp
is	mentioned by
dbSNP	rs121912982
dbSNP (classic)	rs121912982
ClinGen	rs121912982
ebi	rs121912982
HLI	rs121912982
Exac	rs121912982
Gnomad	rs121912982
Varsome	rs121912982
LitVar	rs121912982
Map	rs121912982
PheGenI	rs121912982
Biobank	rs121912982
1000 genomes	rs121912982
hgdp	rs121912982
ensembl	rs121912982
geneview	rs121912982
scholar	rs121912982
google	rs121912982
pharmgkb	rs121912982
gwascentral	rs121912982
openSNP	rs121912982
23andMe	rs121912982
SNPshot	rs121912982
SNPdbe	rs121912982
MSV3d	rs121912982
GWAS Ctlg	rs121912982

Max Magnitude

3

OMIM	125270
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912982(T;T)
Alt	rs121912982(T;T)
Reference	Rs121912982(C;C)
Significance	Pathogenic
Disease	Porphobilinogen synthase deficiency
Variation	info
Gene	ALAD
CLNDBN	Porphobilinogen synthase deficiency
Reversed	1
HGVS	NC_000009.11:g.116151801G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018361.27,