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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 SLC26A2 P50443 p.His9Tyr rs151076648 variant of unknown significance
Detail
(-)
(-)
N
2 SLC26A2 P50443 p.Asn77His rs76784312 variant of unknown significance
Detail
0.32 (T)
0.004 (N)
N
3 SLC26A2 P50443 p.Ala128Val rs116658823 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
4 SLC26A2 P50443 p.Arg158His rs143658243 variant of unknown significance
Detail
(-)
(-)
N
5 SLC26A2 P50443 p.Asn187Ser rs146895291 variant of unknown significance
Detail
(-)
(-)
N
6 SLC26A2 P50443 p.Ile219Val rs35919114 variant of unknown significance
Detail
0.79 (T)
0.17 (N)
N
7 SLC26A2 P50443 p.Tyr232Phe rs75097996 variant of unknown significance
Detail
0.27 (T)
0.515 (D)
N
8 SLC26A2 P50443 p.Phe239Leu rs113043757 variant of unknown significance
Detail
1.00 (T)
0.009 (N)
N
9 SLC26A2 P50443 p.Gly255Glu rs104893917 Atelosteogenesis type 2 (AO2) [MIM:256050]
Detail
0.00 (D)
1 (D)
N
10 SLC26A2 P50443 p.Ser261Cys rs114260147 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
11 SLC26A2 P50443 p.Arg279Gln rs114569184 variant of unknown significance
Detail
0.40 (T)
0.998 (D)
N
12 SLC26A2 P50443 p.Arg279Trp rs104893915 Atelosteogenesis type 2 (AO2) [MIM:256050]
Detail
0.18 (T)
1 (D)
N
13 SLC26A2 P50443 p.Val293Ile rs111931838 variant of unknown significance
Detail
0.62 (T)
0.001 (N)
N
14 SLC26A2 P50443 p.His298Arg rs115111282 variant of unknown significance
Detail
0.47 (T)
0.008 (N)
N
15 SLC26A2 P50443 p.Asn301Ser rs146830189 variant of unknown significance
Detail
(-)
(-)
N
16 SLC26A2 P50443 p.Phe349Tyr rs114212275 variant of unknown significance
Detail
1.00 (T)
0.017 (N)
N
17 SLC26A2 P50443 p.Tyr356Cys rs145359896 variant of unknown significance
Detail
(-)
(-)
N
18 SLC26A2 P50443 p.Ala361Thr rs139051143 variant of unknown significance
Detail
(-)
(-)
N
19 SLC26A2 P50443 p.Ile387Leu rs147953424 variant of unknown significance
Detail
(-)
(-)
N
20 SLC26A2 P50443 p.Asn425Asp rs104893920 Achondrogenesis type 1B (ACG1B) [MIM:600972]
Detail
0.06 (T)
1 (D)
N
21 SLC26A2 P50443 p.Phe430Leu rs115250230 variant of unknown significance
Detail
0.29 (T)
0.998 (D)
N
22 SLC26A2 P50443 p.His432Arg rs116443969 variant of unknown significance
Detail
0.39 (T)
0.111 (N)
N
23 SLC26A2 P50443 p.Val445Ile rs116478722 variant of unknown significance
Detail
0.48 (T)
0.699 (D)
N
24 SLC26A2 P50443 p.Gln454Pro rs104893921 DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT [MIM:606718#0009]
Detail
0.26 (T)
1 (D)
N
25 SLC26A2 P50443 p.Tyr476Cys rs145765282 variant of unknown significance
Detail
(-)
(-)
N
26 SLC26A2 P50443 p.Thr487Ile rs148181478 variant of unknown significance
Detail
(-)
(-)
N
27 SLC26A2 P50443 p.Arg492Trp rs78676079 variant of unknown significance
Detail
0.19 (T)
0.995 (D)
N
28 SLC26A2 P50443 p.Met504Ile rs76668544 variant of unknown significance
Detail
0.17 (T)
0.153 (N)
N
29 SLC26A2 P50443 p.Ser506Asn rs57814887 variant of unknown significance
Detail
0.11 (T)
0.049 (N)
N
30 SLC26A2 P50443 p.Thr512Lys rs121908078 DE LA CHAPELLE DYSPLASIA [MIM:606718#0013]
Detail
0.24 (T)
0.99 (D)
N
31 SLC26A2 P50443 p.Met519Thr rs115232988 variant of unknown significance
Detail
0.01 (D)
0.808 (D)
N
32 SLC26A2 P50443 p.Ile574Thr rs30832 variant of unknown significance
Detail
0.50 (T)
0 (N)
N
33 SLC26A2 P50443 p.Arg582Cys rs142542254 variant of unknown significance
Detail
(-)
(-)
N
34 SLC26A2 P50443 p.Ile621Val rs183475628 variant of unknown significance
Detail
(-)
(-)
N
35 SLC26A2 P50443 p.Ile649Val rs146042098 variant of unknown significance
Detail
(-)
(-)
N
36 SLC26A2 P50443 p.Cys653Ser rs104893924 Multiple epiphyseal dysplasia type 4 (EDM4) [MIM:226900]
Detail
0.24 (T)
1 (D)
N
37 SLC26A2 P50443 p.His665Pro rs141798540 variant of unknown significance
Detail
(-)
(-)
N
38 SLC26A2 P50443 p.Gly678Val rs104893916 Achondrogenesis type 1B (ACG1B) [MIM:600972]
Detail
0.10 (T)
0.999 (D)
N
39 SLC26A2 P50443 p.Thr689Ser rs3776070 variant of unknown significance
Detail
0.91 (T)
0 (N)
N
40 SLC26A2 P50443 p.Val690Leu rs142881493 variant of unknown significance
Detail
(-)
(-)
N
41 SLC26A2 P50443 p.Asn696Ser rs34351171 variant of unknown significance
Detail
0.63 (T)
0 (N)
N
42 SLC26A2 P50443 p.Gly697Arg rs114665866 variant of unknown significance
Detail
0.37 (T)
1 (D)
N
43 SLC26A2 P50443 p.Ala715Val rs104893918 Atelosteogenesis type 2 (AO2) [MIM:256050]
Detail
0.06 (T)
1 (D)
N