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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 11

+ Genes associated with diseases 3

Genes at Omim

HLA-B, HLA-C, INF2,
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-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
INF2 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
Glomerulosclerosis, focal segmental, 5, 613237 (3)

Genes at Clinical Genomics Database

HLA-B, INF2,
HLA-B Drug-induced toxicity, susceptibility to
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E

Genes at HGMD

Summary

Number of Variants: 26
Number of Genes: 11

Export to: CSV
  • Page 1 of 1

FADS6
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 metin-yusa-ezelsoy 17 . 72889676 200.0 G GG... . 1/2 131 CODON_INSERTION MODERATE None None None None None None FADS6|0.029483585|69.62%

FAM46C
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 metin-yusa-ezelsoy 1 rs1630312
dbSNP Clinvar 		118165691 200.0 C G,T . 1/2 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12680 0.12680 0.30632 0.06 0.00 None None None None None None FAM46C|0.209274609|35.66%

GDF7
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 metin-yusa-ezelsoy 2 rs563301908
dbSNP Clinvar 		20867122 200.0 G GG... . 1/2 100 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.81090 0.81090 None None None None None None GDF7|0.067640553|57.97%

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 metin-yusa-ezelsoy 6 rs1071816
dbSNP Clinvar 		31324536 200.0 T A,G . 1/2 135 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09824 0.34600 0.46075 0.13 0.00 None None None None None None HLA-B|0.04113834|65.4%

HLA-C
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 metin-yusa-ezelsoy 6 rs1131115
dbSNP Clinvar 		31239101 112.3 G A,T . 1/2 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06909 0.17190 0.14368 0.17 0.00 None None None None None None HLA-C|0.028815016|70%

INF2
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 metin-yusa-ezelsoy 14 rs1128840
dbSNP Clinvar 		105180706 200.0 A C,G . 1/2 116 SYNONYMOUS_CODING LOW SILENT 0.20967 0.69490 0.35022 None None None None None None INF2|0.011319835|79.76%

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 metin-yusa-ezelsoy 6 rs9351212
dbSNP Clinvar 		90402840 200.0 C A,G . 1/2 63 SYNONYMOUS_CODING LOW SILENT 0.11601 0.11600 0.20444 None None None None None None MDN1|0.180988961|38.9%

NOP9
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 metin-yusa-ezelsoy 14 rs113258190
dbSNP Clinvar 		24769849 200.0 A AG... . 1/2 79 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None NOP9|0.084378166|54.34%

OR51V1
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 metin-yusa-ezelsoy 11 rs11512276
dbSNP Clinvar 		5221645 200.0 C A,G . 1/2 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27995 0.32090 0.40160 0.10 1.00 None None None None None None OR51V1|0.004653668|86.28%

TC2N
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 metin-yusa-ezelsoy 14 rs2402073
dbSNP Clinvar 		92268615 103.54 T A,G . 1/2 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00879 0.00879 0.02191 0.15 0.01 None None None None None None TC2N|0.162817659|41.17%

TMEM92
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 metin-yusa-ezelsoy 17 rs6504642
dbSNP Clinvar 		48356260 200.0 G A,C . 1/2 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14277 0.14280 0.40351 0.49 0.01 None None None None None None TMEM92|0.002095414|90.75%
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 metin-yusa-ezelsoy 6 rs5001484
dbSNP Clinvar 		57512711 200.0 G A,C . 1/2 119 None None None None None None None None None PRIM2|0.188824743|37.96%
View metin-yusa-ezelsoy 1 rs8658
dbSNP Clinvar 		156706559 200.0 A C,G . 1/2 64 None None None 0.32089 0.32090 0.28395 None None None None None None RRNAD1|0.119124739|47.57%
View metin-yusa-ezelsoy 16 rs77024852
dbSNP Clinvar 		4927799 200.0 T A,AA . 1/2 82 None None None None None None None None None UBN1|0.246990383|31.82%
View metin-yusa-ezelsoy 13 rs3039280,rs386379143,rs386379144,rs397807681
dbSNP Clinvar 		50121311 200.0 C CA... . 1/2 52 None None None 0.61482 0.61480 None None None None None None RCBTB1|0.271975199|29.74%
View metin-yusa-ezelsoy 10 rs71481016
dbSNP Clinvar 		131639306 200.0 T TC... . 1/2 79 None None None None None None None None None EBF3|0.883478005|3.89%
View metin-yusa-ezelsoy 6 rs71536155,rs9282285
dbSNP Clinvar 		32724802 200.0 C CT... . 1/2 49 None None None 0.66973 0.66970 None None None None None None HLA-DQB2|0.00469019|86.22%
View metin-yusa-ezelsoy 4 rs140716958,rs55676541
dbSNP Clinvar 		1238142 200.0 T TG... . 1/2 152 None None None 0.59245 0.59250 None None None None None None CTBP1|0.263146365|30.46%
View metin-yusa-ezelsoy 16 rs11861135
dbSNP Clinvar 		21225584 200.0 G A,C . 1/2 51 None None None 0.00060 0.00060 None None None None None None ZP2|0.096344145|51.87%
View metin-yusa-ezelsoy 1 rs2292990
dbSNP Clinvar 		32136168 200.0 G C,T . 1/2 116 None None None 0.34046 0.44370 None None None None None None COL16A1|0.160017905|41.54%
View metin-yusa-ezelsoy 1 rs3738617
dbSNP Clinvar 		17215982 200.0 C A,T . 1/2 290 None None None 0.42991 0.42990 None None None None None None CROCC|0.082326199|54.7%
View metin-yusa-ezelsoy 16 rs56141787
dbSNP Clinvar 		1371764 200.0 C CA... . 1/2 99 None None None None None None None None None UBE2I|0.804624374|5.69%
View metin-yusa-ezelsoy 15 rs71447822,rs57067556
dbSNP Clinvar 		65242950 200.0 G GC... . 1/2 49 None None None None None None None None None ANKDD1A|0.020521915|73.92%
View metin-yusa-ezelsoy 8 rs71299034,rs35413151,rs398009953
dbSNP Clinvar 		133855850 200.0 T TT... . 1/2 82 None None None 0.74701 0.74700 None None None None None None PHF20L1|0.601465876|11.74%
View metin-yusa-ezelsoy 8 rs56062620
dbSNP Clinvar 		27661066 200.0 T TA... . 1/2 42 None None None None None None None None None ESCO2|0.137254292|44.83%
View metin-yusa-ezelsoy 1 rs371078453
dbSNP Clinvar 		92944314 200.0 C CA... . 1/2 42 None None None None None None None None None GFI1|0.291440019|28.29%
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