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+ Genes 15

+ Genes associated with diseases 9

Genes at Omim

ACAN, ALMS1, ASPN, ATXN3, GIGYF2, HTT, PLCZ1, TBP, TMIE,
ACAN Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
ALMS1 Alstrom syndrome, 203800 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
GIGYF2 {Parkinson disease 11}, 607688 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
PLCZ1 ?Spermatogenic failure 17, 617214 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)

Genes at Clinical Genomics Database

ACAN, ALMS1, ATXN3, GIGYF2, HTT, TBP, TMIE,
ACAN Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ALMS1 Alstrom syndrome
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
GIGYF2 Parkinson disease, autosomal dominant, 11
HTT Huntington disease
TBP Spinocerebellar ataxia 17
TMIE Deafness, autosomal recessive 6

Genes at HGMD

Summary

Number of Variants: 62
Number of Genes: 15

Export to: CSV
  • Page 1 of 1

ACAN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 15 rs12899191
dbSNP Clinvar 		89400023 47.18 A G,T LowMQ;LowQD;SB 1/2 62 NON_SYNONYMOUS_CODING MODERATE None 0.63 0.25 None None None None None None ACAN|0.017538305|75.58%

ALMS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 2 rs61156725
dbSNP Clinvar 		73613031 1907.53 TG... TG... PASS 1/2 45 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%

ASPN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 9 rs878929025,rs397838876,rs557103556
dbSNP Clinvar 		95237024 3646.65 CTCA CT... PASS 1/2 114 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ATXN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs763541221
dbSNP Clinvar 		92537354 23263.03 C CC... PASS 1/2 93 CODON_INSERTION MODERATE None None None None None None None ATXN3|0.681306976|9.03%

GIGYF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 2 rs10555297
dbSNP Clinvar 		233712226 15641.59 CACA C,... PASS 1/2 326 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.55911 0.55910 None None None None None None GIGYF2|0.544298923|14.01%

HAVCR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 5 . 156479568 1933.18 CG... C,... PASS 1/2 25 SYNONYMOUS_CODING LOW None 0.01398 0.01398 None None None None None None HAVCR1|0.00064813|97.55%

HTT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 4 rs778928198
dbSNP Clinvar 		3076603 2422.34 CC... CC... PASS 1/2 37 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%

KCNN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 1 rs3831942,rs56352724
dbSNP Clinvar 		154842199 6661.54 G GG... PASS 1/2 113 CODON_INSERTION MODERATE None None None None None None None KCNN3|0.329640894|25.51%

KIAA2018
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 3 rs112313093,rs59601191
dbSNP Clinvar 		113376110 1301.2 TT... T,... PASS 1/2 22 CODON_DELETION MODERATE None None None None None None None KIAA2018|0.1345024|45.17%

LMTK3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 19 rs966856194
dbSNP Clinvar 		49002070 11.28 A C,G LowGQX;LowQD 1/2 13 SYNONYMOUS_CODING LOW None None None None None None None LMTK3|0.027570765|70.62%

MAML3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 4 . 140811063 4598.34 TT... T,... PASS 1/2 45 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%

PLCZ1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 12 rs767045590
dbSNP Clinvar 		18854540 2776.43 AT... A,... PASS 1/2 71 None None None None None None None None None PLCZ1|0.037940053|66.47%

RHPN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 19 rs12610600
dbSNP Clinvar 		33487071 7626.27 G C,T PASS 1/2 295 SYNONYMOUS_CODING LOW None 0.09066 0.59190 0.41619 None None None None None None RHPN2|0.04493503|64.24%

TBP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 6 rs752404282
dbSNP Clinvar 		170871046 8304.0 AC... A,... PASS 1/2 279 SYNONYMOUS_CODING LOW None None None None None None None TBP|0.773041941|6.48%

TMIE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 3 rs761382650,rs544504092,rs886038733
dbSNP Clinvar 		46751073 2403.68 TA... T,... PASS 1/2 47 CODON_DELETION MODERATE None 0.00340 None None None None None None TMIE|0.142194222|44.12%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 7 rs28705341
dbSNP Clinvar 		100550799 284.32 G C,T PASS 1/2 40 None None None 0.02516 0.02516 None None None None None None MUC3A|0.001683398|91.94%
View 15ac02303_s1 genome 8 rs56142295
dbSNP Clinvar 		16007649 3230.05 GT... G,... PASS 1/2 70 None None None None None None None None None MSR1|0.018763977|74.83%
View 15ac02303_s1 genome 8 rs199718445,rs762487935
dbSNP Clinvar 		100287517 631.46 CTT C,CT PASS 1/2 78 None None None None None None None None None VPS13B|0.854148559|4.55%
View 15ac02303_s1 genome 10 rs796292955
dbSNP Clinvar 		135491570 286.94 C A,G LowMQ;LowQD;SB 1/2 847 None None None None None None None None None None
View 15ac02303_s1 genome 10 rs71019410
dbSNP Clinvar 		88458996 2624.14 TT... T,... PASS 1/2 49 None None None 0.36260 None None None None None None LDB3|0.330839914|25.44%
View 15ac02303_s1 genome 10 rs371933363,rs386372133,rs386372134,rs61662431
dbSNP Clinvar 		95549836 511.61 C CT... PASS 1/2 61 None None None 0.39580 None None None None None None LGI1|0.726598138|7.78%
View 15ac02303_s1 genome 11 rs537576314
dbSNP Clinvar 		6637739 927.03 ATT A,AT PASS 1/2 132 None None None 0.73343 0.73340 None None None None None None TPP1|0.137258141|44.82%
View 15ac02303_s1 genome 11 rs113340412,rs139850943,rs35006409
dbSNP Clinvar 		18428637 978.86 A AT... PASS 1/2 39 None None None None None None None None None LDHA|0.651134998|10.07%
View 15ac02303_s1 genome 12 rs575544511
dbSNP Clinvar 		3018675 3444.36 ATT A,AT PASS 1/2 213 None None None 0.00779 0.02696 None None None None None None TULP3|0.05525804|61.13%
View 15ac02303_s1 genome 12 . 88525048 954.56 ATT A,AT PASS 1/2 64 None None None None None None None None None CEP290|0.560411435|13.34%
View 15ac02303_s1 genome 16 rs757104610
dbSNP Clinvar 		79633805 6292.52 TG... T,... PASS 1/2 143 None None None None None None None None None MAF|0.560781937|13.33%
View 15ac02303_s1 genome 16 rs777993926,rs11339898
dbSNP Clinvar 		81272625 481.64 AT ATT,A PASS 1/2 46 None None None None None None None None None BCO1|0.044162038|64.47%
View 15ac02303_s1 genome 18 rs765660994
dbSNP Clinvar 		47455980 717.9 GAAA G,GAA PASS 1/2 100 None None None None None None None None None MYO5B|0.123721802|46.86%
View 15ac02303_s1 genome 20 rs3215563,rs557999553,rs55818737
dbSNP Clinvar 		10622080 1751.7 C CA... PASS 1/2 82 None None None 0.10560 None None None None None None JAG1|0.990514193|1.06%
View 15ac02303_s1 genome 20 rs757412508
dbSNP Clinvar 		18511458 294.92 CT CTT,C PASS 1/2 70 None None None None None None None None None SEC23B|0.130800911|45.77%
View 15ac02303_s1 genome X rs10590549,rs386416932
dbSNP Clinvar 		40460183 1741.58 T TA... PASS 1/2 132 None None None None None None None None None ATP6AP2|0.213725409|35.15%
View 15ac02303_s1 genome 6 rs767980592
dbSNP Clinvar 		65016977 2038.13 TGAGA T,TGA PASS 1/2 64 None None None None None None None None None EYS|0.327790298|25.63%
View 15ac02303_s1 genome 6 . 108243123 3348.56 AACA AA,A PASS 1/2 111 None None None 0.13039 0.13040 None None None None None None SEC63|0.687731816|8.89%
View 15ac02303_s1 genome 7 rs769875811
dbSNP Clinvar 		92129161 588.72 CAA C,CA PASS 1/2 29 None None None None None None None None None PEX1|0.101377404|50.89%
View 15ac02303_s1 genome 7 rs28546921
dbSNP Clinvar 		100550767 109.11 T A,C PASS 1/2 12 None None None 1.00000 1.00000 None None None None None None MUC3A|0.001683398|91.94%
View 15ac02303_s1 genome 19 rs59599980,rs869288526,rs796659049
dbSNP Clinvar 		10270746 6169.31 GAA G,GA PASS 1/2 219 None None None 0.00080 0.20370 None None None None None None DNMT1|0.310637593|26.78%
View 15ac02303_s1 genome 20 rs138225455
dbSNP Clinvar 		57020740 14155.63 CT... CT... PASS 1/2 280 None None None None None None None None None VAPB|0.212997948|35.24%
View 15ac02303_s1 genome 3 rs561885404
dbSNP Clinvar 		77645946 1098.22 CTT C,CT PASS 1/2 62 None None None 0.00080 0.09265 None None None None None None ROBO2|0.998771991|0.44%
View 15ac02303_s1 genome 20 rs112006486,rs3054432
dbSNP Clinvar 		62046496 5965.19 C CA... PASS 1/2 74 None None None 0.02396 None None None None None None KCNQ2|0.174003315|39.78%
View 15ac02303_s1 genome 5 rs760525989
dbSNP Clinvar 		37036449 1917.09 GTATA G,GTA PASS 1/2 60 None None None None None None None None None NIPBL|0.918653114|3.01%
View 15ac02303_s1 genome 6 rs35809482,rs879242131
dbSNP Clinvar 		152539572 1203.14 TA TAA,T PASS 1/2 109 None None None 0.04533 0.40500 None None None None None None SYNE1|0.298400892|27.77%
View 15ac02303_s1 genome 10 rs775373330
dbSNP Clinvar 		27830273 2474.48 CTT C,CT PASS 1/2 199 None None None None None None None None None RAB18|0.540343194|14.2%
View 15ac02303_s1 genome 10 rs398054807
dbSNP Clinvar 		124812685 3050.43 ATT A,AT PASS 1/2 149 None None None 0.00060 0.00879 None None None None None None ACADSB|0.041043879|65.42%
View 15ac02303_s1 genome 3 rs143330998
dbSNP Clinvar 		150645418 2007.58 TACAC T,TAC PASS 1/2 119 None None None None None None None None None CLRN1|0.152112219|42.65%
View 15ac02303_s1 genome 4 rs71595363,rs70944856
dbSNP Clinvar 		120240802 6124.84 C CA... PASS 1/2 90 None None None None None None None None None FABP2|0.062671479|59.14%
View 15ac02303_s1 genome 7 rs398066738
dbSNP Clinvar 		30673512 478.02 TAA T,TA PASS 1/2 54 None None None None None None None None None GARS|0.43596749|18.9%
View 15ac02303_s1 genome 9 rs572231461,rs79680407
dbSNP Clinvar 		432140 2060.48 CTTT CT,C PASS 1/2 88 None None None 0.00200 0.12120 None None None None None None DOCK8|0.209041054|35.69%
View 15ac02303_s1 genome 9 rs769467505
dbSNP Clinvar 		451977 2298.93 AT... AT,A PASS 1/2 52 None None None None None None None None None DOCK8|0.209041054|35.69%
View 15ac02303_s1 genome 11 rs563412144
dbSNP Clinvar 		108014684 355.6 ACC A,AC PASS 1/2 21 None None None 0.19210 None None None None None None ACAT1|0.138678583|44.58%
View 15ac02303_s1 genome 12 rs537765469
dbSNP Clinvar 		21791410 1407.54 TAA T,TA PASS 1/2 88 None None None 0.01198 0.01198 None None None None None None LDHB|0.371263075|22.64%
View 15ac02303_s1 genome 13 rs796327880
dbSNP Clinvar 		31789169 2341.39 CTT C,CT PASS 1/2 161 None None None 0.57049 0.57050 None None None None None None B3GALTL|0.110722838|49.06%
View 15ac02303_s1 genome 13 rs564949226,rs869080759
dbSNP Clinvar 		38320594 2998.09 TAA T,TA PASS 1/2 147 None None None 0.19888 0.19890 None None None None None None TRPC4|0.327889906|25.62%
View 15ac02303_s1 genome 15 rs201620283
dbSNP Clinvar 		63363401 4361.12 C CA... PASS 1/2 51 None None None 0.12740 0.32530 None None None None None None TPM1|0.978525529|1.5%
View 15ac02303_s1 genome 16 rs75367546
dbSNP Clinvar 		33962416 55.16 G C,T PASS 1/2 4 None None None None None None None None None None
View 15ac02303_s1 genome 16 rs2278489
dbSNP Clinvar 		56926828 1285.84 T A,C PASS 1/2 53 None None None 0.12879 0.12880 0.30160 None None None None None None SLC12A3|0.160952618|41.42%
View 15ac02303_s1 genome 21 rs200558426
dbSNP Clinvar 		46604363 653.06 ATT A,AT PASS 1/2 63 None None None 0.65217 None None None None None None ADARB1|0.037848146|66.51%
View 15ac02303_s1 genome 21 rs143709505,rs757334979,rs3058084
dbSNP Clinvar 		47864560 2928.28 CTTT CT,C PASS 1/2 181 None None None 0.76138 0.76140 None None None None None None PCNT|0.010255201|80.67%
View 15ac02303_s1 genome 22 rs375706100,rs3841531
dbSNP Clinvar 		18923848 793.8 TC... T,... SB 1/2 38 None None None 0.71566 0.71570 None None None None None None PRODH|0.133392589|45.38%
View 15ac02303_s1 genome 1 rs2236910
dbSNP Clinvar 		227073410 1813.19 G C,T PASS 1/2 73 None None None 0.73562 0.73560 0.20706 None None None None None None PSEN2|0.66347686|9.57%
View 15ac02303_s1 genome 2 rs68110751,rs550819656,rs111834201,rs3030646
dbSNP Clinvar 		158655883 3174.16 C CA... PASS 1/2 125 None None None 0.22520 None None None None None None ACVR1|0.908763541|3.27%
View 15ac02303_s1 genome 2 rs796781337,rs549405138,rs796498353,rs397987770
dbSNP Clinvar 		216274853 2515.81 AAC AA... PASS 1/2 140 None None None 0.39400 None None None None None None FN1|0.99982615|0.22%
View 15ac02303_s1 genome 2 rs567260101
dbSNP Clinvar 		231363252 1043.3 TAA T,TA PASS 1/2 60 None None None 0.00140 0.02296 None None None None None None SP100|0.002365394|90%
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