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+ Genes 9

+ Genes associated with diseases 4

Genes at Omim

HLA-A, HLA-B, HLA-DQB1, RIPK4,
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Drug-induced liver injury due to flucloxacillin} (3)
{Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
HLA-DQB1 {Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)
RIPK4 CHAND syndrome, 214350 (3)
Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)

Genes at Clinical Genomics Database

HLA-A, HLA-B, RIPK4,
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
RIPK4 Popliteal pterygium syndrome, lethal type
Bartsocas-Papas syndrome

Genes at HGMD

Summary

Number of Variants: 44
Number of Genes: 9

Export to: CSV
  • Page 1 of 1

ARL14EPL
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 fakhrieh_salemi gatk snp 5 rs6880759
dbSNP Clinvar 		115394626 465.29 G A,T PASS 1/2 18 SYNONYMOUS_CODING LOW None 0.07208 0.67630 None None None None None None ARL14EPL|0.056195492|60.86%

HLA-A
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 fakhrieh_salemi gatk snp 6 rs1071743
dbSNP Clinvar 		29911056 5830.29 A G,C PASS 1/2 115 NON_SYNONYMOUS_CODING MODERATE None 0.17532 0.17530 0.14557 0.16 0.00 -3.30 None None None None None None HLA-A|0.043055872|64.8%

HLA-B
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 fakhrieh_salemi gatk snp 6 rs1071816
dbSNP Clinvar 		31324536 4797.29 T G,C PASS 1/2 108 NON_SYNONYMOUS_CODING MODERATE None 0.09824 0.34600 0.28 0.00 0.59 None None None None None None HLA-B|0.04113834|65.4%
View fakhrieh_salemi gatk snp 6 rs4997052
dbSNP Clinvar 		31324144 1218.29 T A,G PASS 1/2 28 NON_SYNONYMOUS_CODING MODERATE None 0.23183 0.23180 0.20654 0.82 0.00 -3.37 None None None None None None HLA-B|0.04113834|65.4%
View fakhrieh_salemi gatk snp 6 rs2308466
dbSNP Clinvar 		31324003 595.29 T A,G PASS 1/2 15 NON_SYNONYMOUS_CODING MODERATE None 0.25879 0.48500 0.49010 0.21 0.12 -2.19 None None None None None None HLA-B|0.04113834|65.4%
View fakhrieh_salemi gatk snp 6 rs2523600
dbSNP Clinvar 		31324004 595.29 C G,T PASS 1/2 15 NON_SYNONYMOUS_CODING MODERATE None 0.25879 0.48500 0.48884 0.43 0.28 0.03 None None None None None None HLA-B|0.04113834|65.4%

HLA-DQB1
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 fakhrieh_salemi gatk snp 6 rs281862065
dbSNP Clinvar 		32632770 1218.29 A T,G PASS 1/2 29 NON_SYNONYMOUS_CODING MODERATE None 0.27707 0.05 0.42 1.69 None None None None None None HLA-DQB1|0.132406558|45.55%

IGHV3-11
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 fakhrieh_salemi gatk snp 14 rs200917720
dbSNP Clinvar 		106573357 3774.29 G T,C PASS 1/2 93 NON_SYNONYMOUS_CODING MODERATE None 0.24 0.00 None None None None None None None

KRTAP10-3
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 fakhrieh_salemi gatk snp 21 rs377549
dbSNP Clinvar 		45978499 4208.29 T C,G PASS 1/2 99 NON_SYNONYMOUS_CODING MODERATE None 0.86921 0.86920 0.07059 0.00 0.00 -1.42 0.00 0.04034 T None None None None TSPEAR|0.035753201|67.21%,KRTAP10-3|0.004291375|86.6%

MDN1
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 fakhrieh_salemi gatk snp 6 rs9351212
dbSNP Clinvar 		90402840 973.29 C A,G PASS 1/2 34 SYNONYMOUS_CODING LOW None 0.11601 0.11600 0.20444 None None None None None None MDN1|0.180988961|38.9%

OR5H6
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 fakhrieh_salemi gatk snp 3 rs2173236
dbSNP Clinvar 		97983391 1161.29 C G,T PASS 1/2 40 NON_SYNONYMOUS_CODING MODERATE None 0.30192 0.30190 0.35791 0.72 0.00 0.05 None None None None None None OR5H6|0.001976143|91.06%

RIPK4
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 fakhrieh_salemi gatk snp 21 rs2838114
dbSNP Clinvar 		43169357 973.29 C G,T PASS 1/2 35 SYNONYMOUS_CODING LOW None 0.07109 0.13200 0.15278 None None None None None None RIPK4|0.144673643|43.77%
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 fakhrieh_salemi gatk snp 6 rs3926873
dbSNP Clinvar 		31322340 1487.29 G A,T PASS 1/2 55 None None None 0.04113 0.05451 0.06751 None None None None None None HLA-B|0.04113834|65.4%
View fakhrieh_salemi gatk snp 6 rs9256982
dbSNP Clinvar 		29911000 4573.29 T G,C PASS 1/2 67 None None None 0.41074 0.41070 None None None None None None HLA-A|0.043055872|64.8%
View fakhrieh_salemi gatk snp 6 rs9260109
dbSNP Clinvar 		29909756 337.29 G C,T PASS 1/2 14 None None None 0.15276 0.52960 None None None None None None HLA-A|0.043055872|64.8%
View fakhrieh_salemi gatk snp 6 rs879127840
dbSNP Clinvar 		32497821 701.29 C T,G PASS 1/2 12 None None None None None None None None None HLA-DRB5|0.020830666|73.74%
View fakhrieh_salemi gatk snp 6 rs2596490
dbSNP Clinvar 		31324996 1750.29 G A,C PASS 1/2 66 None None None 0.08726 0.08726 None None None None None None None
View fakhrieh_salemi gatk snp 2 rs2253872
dbSNP Clinvar 		120221481 111.37 T A,C PASS 1/2 6 None None None 0.23642 0.55350 None None None None None None SCTR|0.120041635|47.43%
View fakhrieh_salemi gatk snp 10 rs1983028
dbSNP Clinvar 		1245893 658.29 A C,T PASS 1/2 27 None None None 0.18131 0.54290 0.45778 None None None None None None ADARB2|0.14627916|43.56%
View fakhrieh_salemi gatk snp 10 rs7095166
dbSNP Clinvar 		7821081 263.29 A G,T PASS 1/2 9 None None None 0.13838 0.65910 None None None None None None KIN|0.532131906|14.5%
View fakhrieh_salemi gatk snp 12 rs28415351
dbSNP Clinvar 		9453743 3840.29 C A,G PASS 1/2 98 None None None 0.28415 0.28410 None None None None None None None
View fakhrieh_salemi gatk snp 15 rs3963874
dbSNP Clinvar 		20448077 2225.29 T A,C PASS 1/2 84 None None None 0.27975 0.27980 None None None None None None None
View fakhrieh_salemi gatk snp 18 rs8096115
dbSNP Clinvar 		3112096 332.29 G A,T PASS 1/2 14 None None None 0.34884 0.34880 None None None None None None MYOM1|0.167204206|40.63%
View fakhrieh_salemi gatk snp 2 rs2443356
dbSNP Clinvar 		91774509 66.37 T A,G PASS 1/2 4 None None None 0.34944 0.34940 None None None None None None None
View fakhrieh_salemi gatk snp 6 rs9269927
dbSNP Clinvar 		32551653 81.34 A C,G PASS 1/2 5 None None None None None None None None None HLA-DRB1|0.032266025|68.49%
View fakhrieh_salemi gatk snp 6 rs9269932
dbSNP Clinvar 		32551716 365.29 C A,G PASS 1/2 10 None None None None None None None None None HLA-DRB1|0.032266025|68.49%
View fakhrieh_salemi gatk snp 7 rs62463096
dbSNP Clinvar 		57063587 394.29 C G,T PASS 1/2 20 None None None None None None None None None None
View fakhrieh_salemi gatk snp 8 rs9329265
dbSNP Clinvar 		12004050 448.3 T A,G PASS 1/2 17 None None None 0.30252 0.50100 None None None None None None None
View fakhrieh_salemi gatk snp 12 rs2071071
dbSNP Clinvar 		7014962 391.29 A C,G PASS 1/2 16 None None None 0.22384 0.22380 0.21998 None None None None None None LRRC23|0.064620081|58.71%
View fakhrieh_salemi gatk snp 6 rs9269772
dbSNP Clinvar 		32548763 804.29 A G,T PASS 1/2 24 None None None None None None None None None HLA-DRB1|0.032266025|68.49%
View fakhrieh_salemi gatk snp 5 rs383985
dbSNP Clinvar 		180055862 1159.29 T C,G PASS 1/2 31 None None None 0.05371 0.05371 0.41372 None None None None None None FLT4|0.206670635|35.92%
View fakhrieh_salemi gatk snp 6 rs3095299
dbSNP Clinvar 		31082482 685.29 T C,G PASS 1/2 18 None None None 0.16554 0.66810 None None None None None None None
View fakhrieh_salemi gatk snp 3 rs9840626
dbSNP Clinvar 		14703297 1056.29 C G,T PASS 1/2 38 None None None 0.09165 0.19870 None None None None None None CCDC174|0.058204393|60.36%
View fakhrieh_salemi gatk snp 2 rs10207725
dbSNP Clinvar 		101564628 1058.29 A C,G PASS 1/2 35 None None None 0.17812 0.17810 None None None None None None NPAS2|0.187340391|38.13%
View fakhrieh_salemi gatk snp 3 rs2639206
dbSNP Clinvar 		81115721 61.66 A G,T PASS 1/2 5 None None None 0.13558 0.84640 None None None None None None None
View fakhrieh_salemi gatk snp 5 rs1650694
dbSNP Clinvar 		79952426 918.29 G A,C PASS 1/2 32 None None None 0.10583 0.10580 None None None None None None MSH3|0.44757189|18.27%
View fakhrieh_salemi gatk snp 1 rs2292990
dbSNP Clinvar 		32136168 1388.29 G C,T PASS 1/2 52 None None None 0.34046 0.44370 None None None None None None COL16A1|0.160017905|41.54%
View fakhrieh_salemi gatk snp 12 rs3741837
dbSNP Clinvar 		5721962 866.29 A C,G PASS 1/2 30 None None None 0.15056 0.15060 0.17275 None None None None None None ANO2|0.232649133|33.14%
View fakhrieh_salemi gatk snp 14 rs4899584
dbSNP Clinvar 		76618849 229.29 C A,T PASS 1/2 8 None None None 0.38618 0.38620 None None None None None None GPATCH2L|0.283468162|28.84%
View fakhrieh_salemi gatk snp 14 rs10144455
dbSNP Clinvar 		106134628 3526.29 C G,T PASS 1/2 80 None None None 0.09006 0.48580 None None None None None None None
View fakhrieh_salemi gatk snp 19 rs117596805
dbSNP Clinvar 		16092163 1908.29 G A,T PASS 1/2 71 None None None 0.00260 0.01777 None None None None None None None
View fakhrieh_salemi gatk snp 21 rs2236668
dbSNP Clinvar 		45650009 356.29 T C,G PASS 1/2 18 None None None 0.28634 0.28630 None None None None None None ICOSLG|0.0015876|92.37%
View fakhrieh_salemi gatk snp 6 rs1321471
dbSNP Clinvar 		137143709 715.29 T C,G PASS 1/2 28 None None None None None None None None None None
View fakhrieh_salemi gatk snp 2 rs62156666
dbSNP Clinvar 		98833449 248.29 G C,A PASS 1/2 10 None None None 0.74421 0.74420 None None None None None None VWA3B|0.029065686|69.83%
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