Have questions? Visit https://www.reddit.com/r/SNPedia

rs536814318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4.4 Likely porphyria mutation
(A;G) 3.3 Likely porphyria mutation
(G;G) 0 common/normal
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position119091446
GeneHMBS
is asnp
is mentioned by
dbSNPrs536814318
dbSNP (classic)rs536814318
ClinGenrs536814318
ebirs536814318
HLIrs536814318
Exacrs536814318
Gnomadrs536814318
Varsomers536814318
LitVarrs536814318
Maprs536814318
PheGenIrs536814318
Biobankrs536814318
1000 genomesrs536814318
hgdprs536814318
ensemblrs536814318
geneviewrs536814318
scholarrs536814318
googlers536814318
pharmgkbrs536814318
gwascentralrs536814318
openSNPrs536814318
23andMers536814318
23andMe allrs536814318
SNPshotrs536814318
SNPdbers536814318
MSV3drs536814318
GWAS Ctlgrs536814318
Max Magnitude4.4

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,