| | Max Magnitude | Chromosome position | Summary |
|---|
| rs1060499741 | 0 | 117,255,281 | |
| rs2015586 | 0 | 117,262,226 | |
| rs363224 | 1 | 117,263,062 | |
| rs363227 | 0 | 117,267,055 | |
| rs363276 | 0 | 117,274,298 | |
| rs363387 | 0 | 117,244,053 | |
| rs60912143 | 0 | 117,241,017 | |
[PMID 16339215] identified 6 SLC18A2 promoter variants (listed below w/ position listed relative to the start of transcription [ch10:118,990,624 - human genome release may 2004], the haplotypes associated with increased transcriptional activity over the reference (no variants) were associated with lower observed Parkinson's disease risk
| variant name
|
dbSNP rs#
|
variation
|
position
|
sequence context
|
freq
|
AA freq
|
CAU freq
|
notes
|
| VMAT.1 |
none |
G/T |
-219 |
CTCTTCCCCAGGCCTGGGTCC |
0.01 |
0.01 |
0.00 |
no noted effects, haplotype consisted only of .1
|
| VMAT.2 |
none |
G/A |
-112 |
CAGCGACGGCGCGGGCGGGCG |
0.01 |
0.01 |
0.00 |
.4 + .2 haplotype, no noted effects
|
| VMAT.3 |
rs60912143 |
G/A |
-106 |
CGGCGCGGGCGGGCGGAGGCC |
0.10 |
0.16 |
0.04 |
.4 + .3 denoted the only reduced (~50%) transcription haplotype observed
|
| VMAT.4 |
none |
C/A |
-103 |
CGCGGGCGGGCGGAGGCCGGG |
0.47 |
0.61 |
0.32 |
.4 haplotype, increased (~120%) transcriptional activity
|
| VMAT.5 |
rs12412905 |
C/T |
-74 |
GCCCCCCGCCCCCGCTCCCTC |
0.05 |
0.06 |
0.04 |
.5 + .4 haplotype, highest observed (~140%) transcription haplotype
|
| VMAT.6 |
rs60543597 |
G/A |
-62 |
CGCTCCCTCCGGCCGTGACGT |
0.15 |
0.07 |
0.23 |
.6 + .4 haplotype, higher (~130%) transcription haplotype
|
