Refgene |
Ïîçèöèÿ |
Reference |
 îáðàçöå |
Ïðèðîäà |
Êà÷åñòâî |
DP |
DBSNP |
1000genomes |
GWAS |
Clinvar |
intronic STAP1 |
68426172 |
A |
C |
het |
4.77219 |
1 |
rs10013995 |
0.609225 |
|
|
intronic
STAP1 |
68436576 |
T |
C |
hom |
7.79993 |
1 |
rs28414931 |
0.313299 |
|
|
intronic STAP1 |
68436883 |
T |
C |
hom |
221.999 |
37 |
rs13111555 |
0.691294 |
|
|
intronic
STAP1 |
68447249 |
A |
G |
het |
176.009 |
24 |
rs2242330 |
0.207668 |
|
|
intronic STAP1 |
68447352 |
A |
G |
hom |
85.5134 |
4 |
rs2242329 |
0.69988 |
|
|
intronic
STAP1 |
68448374 |
A |
G |
hom |
10.4247 |
1 |
rs7670716 |
0.290935 |
|
|
intronic STAP1 |
68456397 |
A |
G |
het |
138.008 |
23 |
rs56279170 |
0.00379393 |
|
|
intronic
STAP1 |
68458937 |
G |
C |
het |
225.009 |
87 |
rs3816821 |
0.48742 |
|
|
intronic STAP1 |
68468020 |
C |
T |
hom |
9.52546 |
1 |
rs354877 |
0.819688 |
|
|
intronic
STAP1 |
68468758 |
G |
A |
hom |
27.7716 |
2 |
rs354879 |
0.81849 |
|
|
intronic STAP1 |
68468998 |
G |
A |
hom |
7.79993 |
1 |
rs354880 |
0.8127 |
|
|
intronic
MEPE |
88750629 |
T |
C |
hom |
11.3429 |
1 |
rs17013191 |
0.190495 |
|
|
intronic MEPE |
88751704 |
G |
A |
hom |
11.3429 |
1 |
rs7682764 |
0.465455 |
|
|
intronic
MEPE |
88753146 |
C |
T |
hom |
10.4247 |
1 |
rs73840156 |
0.00459265 |
|
|
intronic MEPE |
88754594 |
A |
G |
hom |
9.52546 |
1 |
|
|
|
|
intronic
MEPE |
88755828 |
T |
C |
hom |
221.999 |
99 |
rs7698623 |
|
|
|
intronic MEPE |
88755967 |
C |
T |
het |
225.009 |
80 |
rs11097173 |
0.123602 |
|
|
intronic
MEPE |
88758462 |
C |
G |
hom |
9.52546 |
1 |
rs73840162 |
0.034345 |
|
|
intronic MEPE |
88758632 |
G |
A |
hom |
9.52546 |
1 |
rs61618012 |
0.0295527 |
|
|
intronic
MEPE |
88759690 |
T |
C |
het |
225.009 |
48 |
rs6835632 |
|
|
|
intronic MEPE |
88760560 |
G |
A |
het |
28.0137 |
5 |
rs73840165 |
0.0307508 |
|
|
intronic
MEPE |
88760764 |
A |
G |
het |
225.009 |
33 |
rs73840166 |
0.0271565 |
|
|
intronic MEPE |
88762128 |
T |
C |
hom |
10.4247 |
1 |
rs73840167 |
0.0269569 |
|
|
downstream
MEPE |
88768054 |
T |
C |
het |
66.093 |
7 |
rs73840169 |
0.0177716 |
|
|
downstream MEPE |
88768059 |
A |
G |
hom |
61.9723 |
5 |
rs10030803 |
0.0177716 |
|
|
intergenic
KIAA0922(dist=20613),TLR2(dist=26966) |
154578475 |
T |
C |
hom |
6.20226 |
1 |
|
|
|
|
intergenic
KIAA0922(dist=20670),TLR2(dist=26909) |
154578532 |
A |
T |
hom |
5.46383 |
1 |
|
|
|
|
intergenic
KIAA0922(dist=20678),TLR2(dist=26901) |
154578540 |
G |
A |
hom |
6.20226 |
1 |
|
|
|
|
intronic KLKB1 |
187149540 |
G |
A |
hom |
212.999 |
15 |
rs1912826 |
0.580072 |
|
clinvar_20150629 |
exonic
KLKB1 |
187158034 |
G |
A |
hom |
221.999 |
83 |
rs3733402 |
0.604633 |
|
|
intronic KLKB1 |
187159282 |
G |
C |
hom |
162.003 |
11 |
rs4253256 |
0.716853 |
|
|
intronic
KLKB1 |
187164349 |
G |
A |
hom |
8.64911 |
1 |
rs4253281 |
0.603035 |
|
|
intronic KLKB1 |
187164399 |
C |
T |
hom |
9.52546 |
1 |
rs4253282 |
0.579673 |
|
|
intronic
KLKB1 |
187165211 |
T |
C |
hom |
7.79993 |
1 |
rs4253283 |
0.675319 |
|
|
intronic KLKB1 |
187171355 |
A |
G |
hom |
221.999 |
49 |
rs4253299 |
0.820687 |
|
|
intronic
KLKB1 |
187172280 |
G |
A |
het |
118.008 |
14 |
rs2304595 |
0.297524 |
|
|
intronic KLKB1 |
187172362 |
A |
T |
het |
134.008 |
28 |
rs75552988 |
0.0407348 |
|
|
exonic
KLKB1 |
187172943 |
A |
G |
het |
225.009 |
66 |
rs4253379 |
0.0145767 |
|
|
intronic KLKB1 |
187173691 |
A |
G |
hom |
45.7647 |
2 |
rs4253305 |
0.295128 |
|
|
intronic
KLKB1 |
187175722 |
T |
A |
het |
225.009 |
31 |
rs2292423 |
0.297524 |
|
|
intronic KLKB1 |
187178300 |
T |
C |
het |
108.008 |
20 |
rs4241822 |
0.297724 |
|
|
intronic
KLKB1 |
187178599 |
C |
T |
het |
184.009 |
45 |
rs4253326 |
0.800319 |
|
|
intronic KLKB1 |
187178613 |
A |
T |
het |
160.009 |
27 |
rs4253327 |
0.555511 |
|
|
exonic
KLKB1 |
187179210 |
T |
C |
het |
225.009 |
31 |
rs925453 |
0.658147 |
|
|
UTR3
KLKB1(NM_000892:c.*120A>G) |
187179486 |
A |
G |
hom |
63.9723 |
3 |
rs3087505 |
0.91853 |
|
|
|
|
|
|
|
|
|
|
|
|
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