| | | | |
Unrelated probands
|
Caucasian controls
|
African-American controls
|
|---|
|
SNP ID
|
HGVSa
|
mRNA positionb(NM_000677.3)
|
mRNA locationc
|
Chromosomesd
|
MAFe
|
Chromosomesd
|
MAFe
|
Chromosomesd
|
MAFe
|
|---|
|
rs10776728
|
c.108-13736A>T
| |
-376
|
105/370
|
0.284
|
178/562
|
0.317
|
17/48
|
0.354
|
|
rs140137165
|
c.108-13682G>C
| |
-322
|
0/370
|
0.000
|
0/562
|
0.000
|
2/48
|
0.042
|
| |
c.108-13643G>T
| |
-283
|
0/370
|
0.000
|
1/562
|
0.002
|
0/48
|
0.000
|
|
rs10776727
|
c.108-13642G>T
| |
-282
|
164/370
|
0.443
|
251/562
|
0.447
|
13/48
|
0.271
|
|
rs114241928
|
c.108-13599C>G
| |
-239
|
0/370
|
0.000
|
0/562
|
0.000
|
2/48
|
0.042
|
| |
c.108-13532C>T
| |
-172
|
1/370
|
0.003
|
0/562
|
0.000
|
0/48
|
0.000
|
| |
c.108-13371C>T
| |
-11
|
0/370
|
0.000
|
2/562
|
0.004
|
0/48
|
0.000
|
| |
c.-724G>A
|
44
|
5'UTR
|
1/370
|
0.003
|
1/562
|
0.002
|
0/48
|
0.000
|
|
rs1544223
|
c.-581G>A
|
187
|
5'UTR
|
71/370
|
0.192
|
119/562
|
0.212
|
11/48
|
0.229
|
|
rs1544224
|
c.-564 T>C
|
204
|
5'UTR
|
73/370
|
0.197
|
130/562
|
0.231
|
11/48
|
0.229
|
| |
c.-563G>A
|
205
|
5'UTR
|
0/370
|
0.000
|
1/562
|
0.002
|
0/48
|
0.000
|
| |
c.-479A>G
|
289
|
5'UTR
|
0/370
|
0.000
|
1/562
|
0.002
|
0/48
|
0.000
|
|
rs41282522
|
c.-221G>C
|
547
|
5'UTR
|
52/370
|
0.141
|
81/562
|
0.144
|
6/48
|
0.125
|
|
rs41282520
|
c.-105A>C
|
663
|
5'UTR
|
1/370
|
0.003
|
4/562
|
0.007
|
0/48
|
0.000
|
| |
c.-85G>A
|
683
|
5'UTR
|
0/370
|
0.000
|
1/562
|
0.002
|
0/48
|
0.000
|
|
rs35789323
|
c.265C>T
|
1,032
|
Leu89Leu
|
1/370
|
0.003
|
0/562
|
0.000
|
0/48
|
0.000
|
|
rs77883500
|
c.268C>G
|
1,035
|
Leu90Val
|
3/370
|
0.008
|
0/562
|
0.000
|
0/48
|
0.000
|
|
rs76934313
|
c.345C>T
|
1,112
|
Thr115Thr
|
2/370
|
0.006
|
3/562
|
0.005
|
0/48
|
0.000
|
|
rs2789537
|
c.390C>T
|
1,157
|
Ala130Ala
|
6/370
|
0.016
|
5/562
|
0.009
|
1/48
|
0.021
|
|
rs139935750
|
c.511G>A
|
1,278
|
Val171Ile
|
3/370
|
0.008
|
0/562
|
0.000
|
0/48
|
0.000
|
| |
c.582C>T
|
1,349
|
Cys194Cys
|
1/370
|
0.003
|
1/562
|
0.002
|
0/48
|
0.000
|
|
rs143962803
|
c.583G>A
|
1,350
|
Ala195Thr
|
0/370
|
0.000
|
1/562
|
0.002
|
0/48
|
0.000
|
|
rs35511654
|
c.742A>C
|
1,509
|
Ile248Leu
|
54/370
|
0.146
|
84/562
|
0.158
|
6/48
|
0.125
|
|
rs2800889
|
c.797 T>A
|
1,564
|
Met266Lys
|
6/370
|
0.016
|
5/562
|
0.009
|
1/48
|
0.021
|
|
rs2229155
|
c.897 T>C
|
1,664
|
Ala299Ala
|
52/370
|
0.154
|
100/562
|
0.178
|
9/48
|
0.188
|
| |
c.*97C>A
|
1,821
|
3'UTR
|
0/370
|
0.000
|
1/562
|
0.002
|
0/48
|
0.000
|
|
rs923
|
c.*189C>T
|
1,913
|
3'UTR
|
51/370
|
0.149
|
100/562
|
0.178
|
9/48
|
0.188
|
|
rs1415793
|
c.*336C>T
|
2,060
|
3'UTR
|
51/370
|
0.149
|
100/562
|
0.178
|
9/48
|
0.188
|
|
rs75048140
|
c.*350A>G
|
2,074
|
3'UTR
|
2/370
|
0.005
|
0/562
|
0.000
|
0/48
|
0.000
|
|
rs1415792
|
c.*377A>G
|
2,101
|
3'UTR
|
50/370
|
0.146
|
100/562
|
0.178
|
9/48
|
0.188
|
| |
c.*409C>T
|
2,133
|
3'UTR
|
0/370
|
0.000
|
1/562
|
0.002
|
0/48
|
0.000
|
|
rs3393
|
c.*423G>A
|
2,147
|
3'UTR
|
123/370
|
0.435
|
258/562
|
0.459
|
9/48
|
0.188
|
|
rs3394
|
c.*441A>G
|
2,165
|
3'UTR
|
51/370
|
0.149
|
99/562
|
0.176
|
9/48
|
0.188
|
- aHuman Genome Variation Society (HGVS) recommended nomenclature. * Indicates substitution 3’ of termination codon.
- bIndicates base-pair position within mRNA strucutre. RefSeq Accession number is given in parenthesis.
- cIndicates location within mRNA structure (Exon). Negative (-) numbers indicate base pair position 5' to mRNA. Amino acid substitutions are shown relative to protein position.
- dIndicates the number of minor allele counts over the total number of chromosomes sequenced.
- eMAF indicates minor allele frequency.
