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rs1113129
|
CYP2C8
|
Intronic tagging SNP for CYP2C8 haplotype C, a low-activity haplotype associa...
|
Pharmacogenomics
|
|
Moderate
|
|
rs1051298
|
SLC19A1
SLC19A1 3'UTR variant (c.*746C>T)
|
3'UTR variant in the folate transporter gene affecting pemetrexed toxicity ri...
|
Methylation & Detox
|
|
Moderate
|
|
rs116855232
|
NUDT15
Arg139Cys
|
Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc...
|
Pharmacogenomics
|
|
Established
|
|
rs12721627
|
CYP3A4
*16
|
Missense variant reducing CYP3A4 enzyme activity by 50–74% depending on subst...
|
Pharmacogenomics
|
|
Moderate
|
|
rs12721629
|
CYP3A4
*16B
|
Missense variant causing substrate-dependent reduced CYP3A4 activity, most pr...
|
Pharmacogenomics
|
|
Moderate
|
|
rs1341162
|
CYP2C8
|
Intronic CYP2C8 haplotype-tagging variant linked to altered drug metabolism c...
|
Pharmacogenomics
|
|
Moderate
|
|
rs1341164
|
CYP2C8
|
Intronic CYP2C8 variant tagging a haplotype associated with altered taxane dr...
|
Pharmacogenomics
|
|
Emerging
|
|
rs4775936
|
CYP19A1
CYP19A1 Promoter Region Variant (Aro1)
|
Regulatory variant in the CYP19A1 aromatase gene that alters estrogen biosynt...
|
Reproductive Hormones
|
|
Moderate
|
|
rs1934951
|
CYP2C8
|
Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisph...
|
Pharmacogenomics
|
|
Moderate
|
|
rs396991
|
FCGR3A
V158F
|
Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig...
|
Innate Immunity & Infection Defense
|
|
Strong
|
|
rs1934980
|
CYP2C8
|
Intronic CYP2C8 variant linked to altered enzyme expression and associated wi...
|
Pharmacogenomics
|
|
Moderate
|
|
rs28399433
|
CYP2A6
*9 (TATA box)
|
Promoter variant that reduces CYP2A6 expression by ~50%, slowing nicotine met...
|
Pharmacogenomics
|
|
Strong
|
|
rs28399444
|
CYP2A6
*7 (I471T)
|
CYP2A6*7 missense variant that nearly abolishes nicotine C-oxidase activity; ...
|
Pharmacogenomics
|
|
Established
|
|
rs3788189
|
SLC19A1
SLC19A1 IVS2 variant
|
Intronic variant in the folate transporter gene associated with pemetrexed tr...
|
Methylation & Detox
|
|
Emerging
|
|
rs3918290
|
DPYD
*2A
|
Most critical pharmacogenomic variant causing complete loss of DPD enzyme fun...
|
Pharmacogenomics
|
|
Established
|
|
rs4148323
|
UGT1A1
*6 Gly71Arg
|
Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...
|
Pharmacogenomics
|
|
Established
|
|
rs55886062
|
DPYD
*13
|
No-function DPYD star allele (I560S) causing severe DPD deficiency; one of fo...
|
Pharmacogenomics
|
|
Established
|
|
rs56038477
|
DPYD
HapB3 tag (c.1236G>A, E412E)
|
Synonymous exon-11 tag SNP for the DPYD HapB3 haplotype; benign on its own bu...
|
Pharmacogenomics
|
|
Established
|
|
rs67376798
|
DPYD
D949V
|
Decreased-function variant reducing DPD enzyme activity ~30%, requiring 50% f...
|
Pharmacogenomics
|
|
Established
|
|
rs67784355
|
CYP3A4
*11 (Thr363Met)
|
Rare missense variant in CYP3A4 that reduces protein expression and enzymatic...
|
Pharmacogenomics
|
|
Emerging
|
|
rs75017182
|
DPYD
HapB3 (c.1129-5923C>G)
|
Deep intronic splice-site variant that is the functional driver of the DPYD H...
|
Pharmacogenomics
|
|
Established
|