rs536814318

plus

Geno	Mag	Summary
(A;A)	4.4	Likely porphyria mutation
(A;G)	3.3	Likely porphyria mutation
(G;G)	0	common/normal

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

119091446

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs536814318
dbSNP (classic)	rs536814318
ClinGen	rs536814318
ebi	rs536814318
HLI	rs536814318
Exac	rs536814318
Gnomad	rs536814318
Varsome	rs536814318
LitVar	rs536814318
Map	rs536814318
PheGenI	rs536814318
Biobank	rs536814318
1000 genomes	rs536814318
hgdp	rs536814318
ensembl	rs536814318
geneview	rs536814318
scholar	rs536814318
google	rs536814318
pharmgkb	rs536814318
gwascentral	rs536814318
openSNP	rs536814318
23andMe	rs536814318
SNPshot	rs536814318
SNPdbe	rs536814318
MSV3d	rs536814318
GWAS Ctlg	rs536814318

Max Magnitude

4.4

aka c.532G>A, p.Asp178Asn, D178N

HMBS enzyme from the variant allele of this SNP is reported to have 81% of the activity of the normal, wild-type; it is reported as likely to be pathogenic in ClinVar, presumably for acute intermittent porphyria.

ClinVar
Risk	Rs536814318(A;A)
Alt	Rs536814318(A;A)
Reference	Rs536814318(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	HMBS
CLNDBN	not provided
Reversed	0
HGVS	NC_000011.9:g.118962156G>A
CLNSRC
CLNACC	RCV000413917.1,