| Amyotrophic lateral sclerosis type 10 |
rs80356718 |
AX-86597715 |
1:11022209:A:G |
NM_007375.3(TARDBP):c.800A>G (p.Asn267Ser) |
0:6:2701 |
0.0011 |
0.0011 |
0.0012 |
0.0013 |
0.0000 |
0.0000 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
rs776483190 |
AX-168649202 |
1:11802980:C:T |
NM_005957.4(MTHFR):c.137G>A (p.Arg46Gln) |
0:1:2705 |
0.0002 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
| Ehlers-Danlos syndrome, hydroxylysine-deficient |
rs121913550 |
AX-96097180 |
1:11958627:C:T |
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) |
0:4:2703 |
0.0007 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
| Glaucoma 1, open angle, A |
rs74315339 |
AX-86638140 |
1:171652468:C:A |
NM_000261.2(MYOC):c.144G>T (p.Gln48His) |
0:6:2702 |
0.0011 |
0.0000 |
0.0005 |
0.0000 |
0.0000 |
0.0000 |
| Central centrifugal cicatricial alopecia |
rs142129409 |
AX-169127655 |
1:17262194:T:A |
NM_016233.2(PADI3):c.335T>A (p.Leu112His) |
0:2:2706 |
0.0004 |
0.0000 |
0.0045 |
0.0050 |
0.0000 |
0.0000 |
| Central centrifugal cicatricial alopecia |
rs139876092 |
AX-83022656 |
1:17267938:C:T |
NM_016233.2(PADI3):c.628C>T (p.Arg210Trp) |
0:2:2702 |
0.0004 |
0.0053 |
0.0010 |
0.0000 |
0.0000 |
0.0000 |
| Central centrifugal cicatricial alopecia |
rs139426141 |
AX-83588778 |
1:17270903:A:G |
NM_016233.2(PADI3):c.856A>G (p.Thr286Ala) |
0:18:2683 |
0.0033 |
0.0021 |
0.0025 |
0.0000 |
0.0133 |
0.0196 |
| Central centrifugal cicatricial alopecia |
rs144080386 |
AX-83286554 |
1:17270928:C:T |
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) |
0:7:2697 |
0.0013 |
0.0021 |
0.0030 |
0.0050 |
0.0022 |
0.0000 |
| Central centrifugal cicatricial alopecia |
rs140482516 |
AX-83477985 |
1:17280704:C:T |
NM_016233.2(PADI3):c.1669C>T (p.Arg557Trp) |
0:3:2703 |
0.0006 |
0.0032 |
0.0015 |
0.0000 |
0.0066 |
0.0098 |
| Central centrifugal cicatricial alopecia |
rs34097903 |
AX-30261485 |
1:17280779:G:A |
NM_016233.2(PADI3):c.1744G>A (p.Ala582Thr) |
0:15:2692 |
0.0028 |
0.0011 |
0.0045 |
0.0006 |
0.0089 |
0.0000 |
| Usher syndrome, type 2A |
rs777465132 |
AX-86603454 |
1:215758743:G:T |
NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter) |
0:2:2704 |
0.0004 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
| Usher syndrome, type 2A |
rs746551311 |
AX-92024453 |
1:216196582:G:A |
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) |
0:2:2704 |
0.0004 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
| Porphyria cutanea tarda |
rs121918066 |
AX-86633207 |
1:45015389:G:A |
NM_000374.5(UROD):c.995G>A (p.Arg332His) |
0:1:2702 |
0.0002 |
0.0000 |
0.0000 |
0.0013 |
0.0000 |
0.0000 |
| Methylmalonic acidemia with homocystinuria |
rs796051995 |
AX-168644327 |
1:45507491:C:T |
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) |
0:1:2704 |
0.0002 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
| Leber congenital amaurosis 2 |
rs61752871 |
AX-86734272 |
1:68444858:G:A |
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) |
0:2:2706 |
0.0004 |
0.0000 |
0.0000 |
0.0006 |
0.0000 |
0.0000 |
| Advanced sleep phase syndrome, familial, 3 |
rs139315125 |
AX-83301932 |
1:7809900:A:G |
NM_016831.3(PER3):c.1247A>G (p.His416Arg) |
0:7:2701 |
0.0013 |
0.0021 |
0.0005 |
0.0038 |
0.0000 |
0.0000 |
| Parkinson disease 7 |
rs74315352 |
AX-83111924 |
1:7984930:A:C |
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala) |
0:1:2704 |
0.0002 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
| Stargardt disease* |
rs1800553 |
AX-83425312 |
1:94008251:C:T |
NM_000350.2(ABCA4):c.[5512C>G;5882G>A] |
3:106:2594 |
0.0207 |
0.0170 |
0.0211 |
0.0256 |
0.0089 |
0.0098 |
| Stargardt disease |
rs61750155 |
AX-86636652 |
1:94021695:G:T |
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) |
0:3:2698 |
0.0006 |
0.0000 |
0.0010 |
0.0006 |
0.0000 |
0.0000 |
| Leber congenital amaurosis 9 |
rs150726175 |
AX-83009255 |
1:9982630:G:A |
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) |
0:1:2705 |
0.0002 |
0.0000 |
0.0015 |
0.0013 |
0.0000 |
0.0000 |