|
Higher Rank (Direct Functional Evidence)
|
|
XPD-[Lys751Gln]
|
C: 32.3
|
Yes
|
Missense
|
Gln (C) allele has decreased DNA repair capacity [15-18]
|
Yes [83]
|
transcription-coupled nucleotide-excision repair, ATP-dependent DNA helicase activity
|
|
COMT-[Met108/158Val]
|
G: 47.3
|
Yes
|
Missense
|
Met (A) allele has lower enzymatic activity [20,21]
|
Yes [84]
|
neurotransmitter catabolism, catecholamine metabolism
|
|
GSTP1-[Ile105Val]
|
G: 31.2
|
Yes
|
Missense
|
Val (G) allele is associated with reduced enzymatic activity [22,23]
|
Yes [85]
|
Metabolism, glutathione transferase activity
|
|
MTHFR-[Ala222Val]
|
T: 35.6
|
No
|
Missense
|
Val (T) allele is associated with reduced enzyme activity [19]
|
Yes† [86]
|
Folate metabolism, methylene-tetrahydrofolate reductase (NADPH) activity
|
|
CCND1-[Pro241Pro]
|
A: 46.1
|
Yes
|
Splice Variant
|
(A) allele affects protein stability [24-27]
|
Yes [87]
|
G1/S transition of mitotic cell cycle
|
|
MMP1-[1G(-1607)2G]
|
Ins: 49.7
|
No
|
Regulatory
|
(Ins) allele shows increased transcription [28,29]
|
No
|
collagen catabolism, interstitial collagenase activity
|
|
IL10-[G(-1082)A]
|
G: 47.6
|
Yes
|
Regulatory
|
G allele is associated with increased expression [30-32]
|
No
|
cell-cell signaling, B-cell differentiation and proliferation, anti-apoptosis.
|
|
Medium Rank (Indirect Functional Evidence)
|
|
BARD1-[Pro24Ser]
|
T: 37.5
|
Yes
|
Missense
|
Proline to serine change is a significant alteration
|
No
|
response to DNA damage, protein ubiquitination, regulation of apoptosis
|
|
IL13-[Arg130Gln]
|
A : 18.3
|
No
|
Missense
|
Gln allele associated with increased IgE levels [41]
|
No
|
immune response, inflammatory response, signal transduction,
|
|
p27-[Val109Gly]
|
G: 19.4
|
No
|
Missense
|
Possible function [33]
|
No
|
regulation of cyclin dependent protein kinase activity
|
|
GSTM3-[4595 (3bp ins/del)]
|
Del: 16.8
|
No
|
UTR
|
creates recognition site for transcription factor YY1 [34]
|
No
|
Metabolism, glutathione transferase activity
|
|
TNFA-[G(-308)A]
|
A: 17.6
|
No
|
UTR
|
increased transcriptional activity; also no functional change [35-38]
|
No
|
inflammatory response, signal transduction, regulation of transcription, apoptosis
|
|
CYP17-[C(518)T]
|
C: 34.3
|
No
|
Regulatory
|
Associated with increased serum estradiol [39,40]
|
Yes [4]
|
C21-Steroid hormone metabolism,
|
|
Lower Rank (No Functional Evidence)
|
|
IL1A-[Ala114Ser]
|
T : 27.4
|
No
|
Missense
|
no published functional evidence
|
No
|
MAPK signaling pathway, regulation of progression through cell cycle
|
|
GADD45-[C(IVS3+168)T]
|
C: 31.2
|
No
|
Intronic
|
no published functional evidence
|
No
|
regulation of cyclin dependent protein kinase activity, DNA repair, apoptosis
|
|
PTEN-[(IVS4+109)ins/del5
|
Ins: 30.1
|
No
|
Intronic
|
no published functional evidence
|
No
|
negative regulation of cell cycle, protein tyrosine/serine/threonine phosphatase activity
|
|
ESR1-[Ser10Ser]
|
C: 48.5
|
No
|
Silent
|
no published functional evidence
|
No
|
steroid hormone receptor activity, signal transduction, regulation of transcription
|
|
G-CSF-[Leu185Leu]
|
G: 38
|
No
|
Silent
|
no published functional evidence
|
No
|
immune response, cell-cell signaling, positive regulation of cell proliferation
|
|
ESR1-[Pro325Pro]
|
G: 24.1
|
No
|
Silent
|
no published functional evidence
|
No
|
steroid hormone receptor activity, signal transduction, regulation of transcription
|
