rs5030865

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	2	CYP2D6*8 inactive type homozygote
(A;C)	2	carrier of one CYP2D6*8 inactive type allele
(A;T)	2	carrier of one CYP2D6*8 and one CYP2D6*14 inactive type alleles
(C;C)	1	normal
(C;T)	2	carrier of one CYP2D6*14 inactive type allele
(T;T)	2	CYP2D6*14 inactive type homozygote

Reference

GRCh37 37.1/131

Chromosome

22

Position

42129033

Gene	CYP2D6, LOC102723722, LOC107987465, LOC107987481

is a	snp
is	mentioned by
dbSNP	rs5030865
dbSNP (classic)	rs5030865
ClinGen	rs5030865
ebi	rs5030865
HLI	rs5030865
Exac	rs5030865
Gnomad	rs5030865
Varsome	rs5030865
LitVar	rs5030865
Map	rs5030865
PheGenI	rs5030865
Biobank	rs5030865
1000 genomes	rs5030865
hgdp	rs5030865
ensembl	rs5030865
geneview	rs5030865
scholar	rs5030865
google	rs5030865
pharmgkb	rs5030865
gwascentral	rs5030865
openSNP	rs5030865
23andMe	rs5030865
SNPshot	rs5030865
SNPdbe	rs5030865
MSV3d	rs5030865
GWAS Ctlg	rs5030865

GMAF

0.0009183

Max Magnitude

2

rs5030865 is a SNP in the CYP2D6 gene which defines two inactive variants, CYP2D6*8 and CYP2D6*14. This SNP has changed orientation in different reference genome builds and also has more than two allele changes possible, so references to it can be very confusing. The below are in genome build 37.1 plus orientation, while the "also knowns" are in minus orientation:

rs5030865(C) is the normal variant
rs5030865(A) is the CYP2D6*8 inactive variant, also known as 1758G>T or G169X
rs5030865(T) is the CYP2D6*14 inactive variant, also known as 1758G>A or G169R

OMIM	124030
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs5030865(A;A) Rs5030865(T;T)
Alt	Rs5030865(A;A) Rs5030865(T;T)
Reference	Rs5030865(C;C)
Significance	Drug-response
Disease	Debrisoquine
Variation	info
Gene	CYP2D6
CLNDBN	Debrisoquine, poor metabolism of
Reversed	0
HGVS	NC_000022.10:g.42525035C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018388.29,

[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.