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+ Genes 123

+ Genes associated with diseases 26

Genes at Omim

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, MCM3AP, PCNT, PFKL, PIGP, RIPK4, RSPH1, SIK1, SON, SYNJ1, TMPRSS15, TMPRSS3, WDR4,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CLDN14 Deafness, autosomal recessive 29, 614035 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL6A2 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
?Myosclerosis, congenital, 255600 (3)
CRYAA Cataract 9, multiple types, 604219 (3)
FTCD Glutamate formiminotransferase deficiency, 229100 (3)
IFNAR2 {Hepatitis B virus, susceptibility to}, 610424 (3)
?Immunodeficiency 45, 616669 (3)
ITGB2 Leukocyte adhesion deficiency, 116920 (3)
KCNE1 Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Long QT syndrome 5, 613695 (3)
KCNJ6 Keppen-Lubinsky syndrome, 614098 (3)
LIPI {Hypertriglyceridemia, susceptibility to}, 145750 (3)
LSS Cataract 44, 616509 (3)
Hypotrichosis 14, 618275 (3)
MCM3AP Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PFKL Hemolytic anemia due to phosphofructokinase deficiency (1)
PIGP ?Epileptic encephalopathy, early infantile, 55, 617599 (3)
RIPK4 CHAND syndrome, 214350 (3)
Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RSPH1 Ciliary dyskinesia, primary, 24, 615481 (3)
SIK1 Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON ZTTK syndrome, 617140 (3)
SYNJ1 Epileptic encephalopathy, early infantile, 53, 617389 (3)
Parkinson disease 20, early-onset, 615530 (3)
TMPRSS15 Enterokinase deficiency, 226200 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)
WDR4 Galloway-Mowat syndrome 6, 618347 (3)
Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3)

Genes at Clinical Genomics Database

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, PCNT, RIPK4, RSPH1, SIK1, TMPRSS15, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CLDN14 Deafness, autosomal recessive 29
COL18A1 Knobloch syndrome 1
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
COL6A2 Ullrich congenital muscular dystrophy 1
Myosclerosis, congenital
Bethlem myopathy 1
Epilepsy, progressive myoclonic, autosomal recessive
CRYAA Cataract 9, multiple types
FTCD Glutamate formiminotransferase deficiency
IFNAR2 Immunodeficiency 45
ITGB2 Leukocyte adhesion deficiency, type I
KCNE1 Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
KCNJ6 Keppen-Lubinsky syndrome
LIPI Hypertriglyceridemia, familial
LSS Cataract 44
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
RIPK4 Popliteal pterygium syndrome, lethal type
Bartsocas-Papas syndrome
RSPH1 Ciliary dyskinesia, primary, 24
SIK1 Epileptic encephalopathy, early infantile 30
TMPRSS15 Enterokinase deficiency
TMPRSS3 Deafness, autosomal recessive 10
Deafness, autosomal recessive 8

Genes at HGMD

Summary

Number of Variants: 762
Number of Genes: 123

Export to: CSV

ADAMTS1
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 tsvc_variants_ionxpress_002-4 21 rs436525
dbSNP Clinvar 		28212760 125.66 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.32493 None None None None None None ADAMTS1|0.304173311|27.34%
View tsvc_variants_ionxpress_002-4 21 rs428785
dbSNP Clinvar 		28216595 86.0 C G PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.68910 0.68910 0.18987 0.25 0.00 None None None None None None ADAMTS1|0.304173311|27.34%
View tsvc_variants_ionxpress_002-4 21 rs445784
dbSNP Clinvar 		28216692 64.47 G T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.67812 0.67810 0.16880 None None None None None None ADAMTS1|0.304173311|27.34%

ADAMTS5
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 tsvc_variants_ionxpress_002-4 21 rs3746840
dbSNP Clinvar 		28338581 34.82 G T PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.04113 0.04113 0.01909 0.38 0.01 None None None None None None ADAMTS5|0.324991256|25.8%
View tsvc_variants_ionxpress_002-4 21 rs226794
dbSNP Clinvar 		28302355 1058.52 A G PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.80970 0.80970 0.08527 1.00 0.00 None None None None None None ADAMTS5|0.324991256|25.8%
View tsvc_variants_ionxpress_002-4 21 rs457947
dbSNP Clinvar 		28338298 587.16 C G PASS 0/1 298 NON_SYNONYMOUS_CODING MODERATE None 0.13998 0.14000 0.18702 0.30 0.60 None None None None None None ADAMTS5|0.324991256|25.8%

ADARB1
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 tsvc_variants_ionxpress_002-4 21 rs1051367
dbSNP Clinvar 		46641968 1001.03 G A PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.49401 0.49400 0.49692 None None None None None None ADARB1|0.037848146|66.51%

AF165138.7
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 tsvc_variants_ionxpress_002-4 21 rs456067
dbSNP Clinvar 		15974409 479.68 T C PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None None

AIRE
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 tsvc_variants_ionxpress_002-4 21 rs1055311
dbSNP Clinvar 		45709568 69.55 C T PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.11761 0.11760 0.20209 None None None None None None AIRE|0.006628229|83.92%

ATP5O
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 tsvc_variants_ionxpress_002-4 21 rs4591
dbSNP Clinvar 		35281393 61.19 A G PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.70208 0.70210 0.29940 None None None None None None ATP5O|0.055947808|60.93%
View tsvc_variants_ionxpress_002-4 21 rs9980730
dbSNP Clinvar 		35275955 1599.91 G A PASS 1/1 170 None None None 0.99101 0.99100 0.02237 None None None None None None ATP5O|0.055947808|60.93%

B3GALT5
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 tsvc_variants_ionxpress_002-4 21 rs734413
dbSNP Clinvar 		41032804 243.95 G A PASS 0/1 169 SYNONYMOUS_CODING LOW None 0.62939 0.62940 0.33746 None None None None None None B3GALT5|0.004441095|86.45%
View tsvc_variants_ionxpress_002-4 21 rs3746887
dbSNP Clinvar 		41032740 242.3 T C PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.65336 0.65340 0.31493 1.00 0.00 None None None None None None B3GALT5|0.004441095|86.45%

BACE2
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 tsvc_variants_ionxpress_002-4 21 rs1046210
dbSNP Clinvar 		42622786 380.04 C T PASS 0/1 168 SYNONYMOUS_CODING LOW None 0.41893 0.41890 0.30132 None None None None None None BACE2|0.031049204|68.94%

BACH1
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 tsvc_variants_ionxpress_002-4 21 . 30714976 73.77 C G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.54 0.00 None None None None None None BACH1|0.113830282|48.51%
View tsvc_variants_ionxpress_002-4 21 rs388707
dbSNP Clinvar 		30714776 262.41 T C PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.49285 None None None None None None BACH1|0.113830282|48.51%

BRWD1
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 tsvc_variants_ionxpress_002-4 21 rs2056844
dbSNP Clinvar 		40670460 484.71 G C PASS 0/1 196 NON_SYNONYMOUS_CODING MODERATE None 0.47844 0.47840 0.45725 0.28 0.00 None None None None None None BRWD1|0.163713366|41.06%
View tsvc_variants_ionxpress_002-4 21 rs61740760
dbSNP Clinvar 		40641858 324.44 T G PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.00998 0.00998 0.02345 None None None None None None BRWD1|0.163713366|41.06%
View tsvc_variants_ionxpress_002-4 21 rs6517529
dbSNP Clinvar 		40584598 815.54 C T PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.85164 0.85160 0.05362 None None None None None None BRWD1|0.163713366|41.06%
View tsvc_variants_ionxpress_002-4 21 rs2183573
dbSNP Clinvar 		40574305 401.89 A G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.61861 0.61860 0.40143 0.03 0.77 None None None None None None BRWD1|0.163713366|41.06%
View tsvc_variants_ionxpress_002-4 21 rs1041439
dbSNP Clinvar 		40571246 2192.12 A G PASS 1/1 228 NON_SYNONYMOUS_CODING MODERATE None 0.85284 0.85280 0.05336 0.52 0.00 None None None None None None BRWD1|0.163713366|41.06%
View tsvc_variants_ionxpress_002-4 21 rs768122638
dbSNP Clinvar 		40558989 60.36 A T PASS 0/1 105 STOP_GAINED HIGH None None None None None None None BRWD1|0.163713366|41.06%

C21orf128
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 tsvc_variants_ionxpress_002-4 21 rs220111
dbSNP Clinvar 		43523941 593.6 C A PASS 0/1 201 NON_SYNONYMOUS_CODING MODERATE None 0.30631 0.30630 0.30740 0.03 0.02 None None None None None None UMODL1|0.002901681|88.83%,UMODL1-AS1|0.000431351|98.79%
View tsvc_variants_ionxpress_002-4 21 rs11701371
dbSNP Clinvar 		43523972 309.38 G C PASS 0/1 186 SYNONYMOUS_CODING LOW None 0.20048 0.20050 0.19583 None None None None None None UMODL1|0.002901681|88.83%,UMODL1-AS1|0.000431351|98.79%

C21orf2
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 tsvc_variants_ionxpress_002-4 21 rs2277809
dbSNP Clinvar 		45751822 510.45 G A PASS 0/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.03734 0.03734 0.02184 0.20 0.10 None None None None None None C21orf2|0.021974871|73.18%

C21orf33
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 tsvc_variants_ionxpress_002-4 21 rs968714
dbSNP Clinvar 		45553596 346.48 T C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.59185 0.59190 0.34155 0.83 0.00 None None None None None None C21orf33|0.016835395|76%

C21orf58
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 tsvc_variants_ionxpress_002-4 21 rs114869542
dbSNP Clinvar 		47734844 26.42 G A PASS 0/1 26 None None None 0.03215 0.03215 0.02640 0.01 0.00 None None None None None None C21orf58|0.001829013|91.47%
View tsvc_variants_ionxpress_002-4 21 rs117095783
dbSNP Clinvar 		47734842 29.01 A G PASS 0/1 25 None None None 0.03435 0.03435 0.02808 None None None None None None C21orf58|0.001829013|91.47%
View tsvc_variants_ionxpress_002-4 21 rs13047478
dbSNP Clinvar 		47734659 68.4 G A PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.28794 0.28790 0.26590 0.19 0.85 None None None None None None C21orf58|0.001829013|91.47%

C21orf62
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 tsvc_variants_ionxpress_002-4 21 rs74617086
dbSNP Clinvar 		34166190 3105.61 A T PASS 1/1 337 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%
View tsvc_variants_ionxpress_002-4 21 rs2231390
dbSNP Clinvar 		34166343 649.56 C T PASS 0/1 372 SYNONYMOUS_CODING LOW None 0.72744 0.72740 0.28794 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

C2CD2
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 tsvc_variants_ionxpress_002-4 21 rs3746906
dbSNP Clinvar 		43327856 629.74 A G PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.60743 0.60740 0.36568 None None None None None None C2CD2|0.005649792|85.05%
View tsvc_variants_ionxpress_002-4 21 rs2277795
dbSNP Clinvar 		43327117 924.36 C T PASS 0/1 285 SYNONYMOUS_CODING LOW None 0.30092 0.30090 0.26703 None None None None None None C2CD2|0.005649792|85.05%

CBR3
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 tsvc_variants_ionxpress_002-4 21 rs1056892
dbSNP Clinvar 		37518706 155.97 G A PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.42712 0.42710 0.39874 0.07 0.21 None None None None None None CBR3|0.052541759|61.89%
View tsvc_variants_ionxpress_002-4 21 rs8133052
dbSNP Clinvar 		37507501 237.14 G A PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.36681 0.36680 0.37228 0.60 0.00 None None None None None None CBR3|0.052541759|61.89%
View tsvc_variants_ionxpress_002-4 21 rs881711
dbSNP Clinvar 		37507745 796.93 C T PASS 1/1 84 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%

CBS
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 tsvc_variants_ionxpress_002-4 21 rs234706
dbSNP Clinvar 		44485350 1529.4 G A PASS 1/1 169 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.19649 0.19650 0.30609 None None None None None None CBS|0.170288794|40.28%

CCT8
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 tsvc_variants_ionxpress_002-4 21 rs139906177
dbSNP Clinvar 		30439335 141.21 C T PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.00479 0.00479 0.01215 0.09 0.75 None None None None None None CCT8|0.473967824|17.02%

CLDN14
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 tsvc_variants_ionxpress_002-4 21 rs219780
dbSNP Clinvar 		37833307 49.43 C T PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.13538 0.13540 0.22313 None None None None None None CLDN14|0.178050404|39.29%
View tsvc_variants_ionxpress_002-4 21 rs117560775
dbSNP Clinvar 		37833931 171.83 C T PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.02236 0.02236 0.02185 None None None None None None CLDN14|0.178050404|39.29%
View tsvc_variants_ionxpress_002-4 21 rs219779
dbSNP Clinvar 		37833751 1462.83 G A PASS 1/1 158 SYNONYMOUS_CODING LOW None 0.19010 0.19010 0.27626 None None None None None None CLDN14|0.178050404|39.29%

CLDN8
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 tsvc_variants_ionxpress_002-4 21 rs686364
dbSNP Clinvar 		31587793 707.24 A G PASS 0/1 252 NON_SYNONYMOUS_CODING MODERATE None 0.41873 0.41870 0.38428 1.00 0.00 None None None None None None CLDN8|0.022912612|72.76%

CLIC6
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 tsvc_variants_ionxpress_002-4 21 rs6517254
dbSNP Clinvar 		36080290 189.46 C T PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.37001 0.37000 0.46179 None None None None None None CLIC6|0.002510101|89.68%

COL18A1
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 tsvc_variants_ionxpress_002-4 21 rs62000962
dbSNP Clinvar 		46910210 15.2 G A PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.11562 0.11560 0.12344 0.14 0.01 None None None None None None COL18A1|0.045578537|64.02%
View tsvc_variants_ionxpress_002-4 21 rs61731167
dbSNP Clinvar 		46909426 43.03 G A PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.04593 0.04593 0.04525 None None None None None None COL18A1|0.045578537|64.02%
View tsvc_variants_ionxpress_002-4 21 rs914230
dbSNP Clinvar 		46875564 940.89 T C PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.98842 0.98840 0.03067 None None None None None None COL18A1|0.045578537|64.02%
View tsvc_variants_ionxpress_002-4 21 rs1050351
dbSNP Clinvar 		46929467 37.72 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.50359 0.50360 0.37778 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View tsvc_variants_ionxpress_002-4 21 rs13046486
dbSNP Clinvar 		46898243 257.88 C G PASS 0/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07388 0.07388 0.09354 None None None None None None COL18A1|0.045578537|64.02%
View tsvc_variants_ionxpress_002-4 21 rs11702425
dbSNP Clinvar 		46908355 135.54 T C PASS 0/1 163 SYNONYMOUS_CODING LOW None 0.31989 0.31990 0.31287 None None None None None None COL18A1|0.045578537|64.02%

COL6A1
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 tsvc_variants_ionxpress_002-4 21 rs1980982
dbSNP Clinvar 		47410931 1280.0 T C PASS 1/1 134 SYNONYMOUS_CODING LOW None 0.54493 0.54490 0.37606 None None None None None None COL6A1|0.085741402|53.99%
View tsvc_variants_ionxpress_002-4 21 rs11553519
dbSNP Clinvar 		47404302 123.36 G A PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.03055 0.03055 0.04084 0.30 0.16 None None None None None None COL6A1|0.085741402|53.99%

COL6A2
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 tsvc_variants_ionxpress_002-4 21 rs2839110
dbSNP Clinvar 		47538960 84.75 G A PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.27077 0.91 0.00 None None None None None None COL6A2|0.07894144|55.42%
View tsvc_variants_ionxpress_002-4 21 rs13046639
dbSNP Clinvar 		47545826 358.91 C T PASS 0/1 155 SYNONYMOUS_CODING LOW None 0.39397 0.39400 0.41258 None None None None None None COL6A2|0.07894144|55.42%
View tsvc_variants_ionxpress_002-4 21 rs13052956
dbSNP Clinvar 		47545823 343.86 G A PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.39417 0.39420 0.41273 None None None None None None COL6A2|0.07894144|55.42%
View tsvc_variants_ionxpress_002-4 21 rs2839114
dbSNP Clinvar 		47545913 248.89 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.32209 0.32210 0.29156 None None None None None None COL6A2|0.07894144|55.42%
View tsvc_variants_ionxpress_002-4 21 . 47549161 47.69 AGG AG... PASS 0/1 19 None None None None None None None None None COL6A2|0.07894144|55.42%
View tsvc_variants_ionxpress_002-4 21 rs1042917
dbSNP Clinvar 		47545768 244.66 G A PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.41296 0.10 0.98 None None None None None None COL6A2|0.07894144|55.42%
View tsvc_variants_ionxpress_002-4 21 rs75120695
dbSNP Clinvar 		47546080 61.19 G A PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.00300 0.00300 0.00477 0.35 0.01 None None None None None None COL6A2|0.07894144|55.42%
View tsvc_variants_ionxpress_002-4 21 rs6652
dbSNP Clinvar 		47552385 34.08 C T PASS 0/1 12 SYNONYMOUS_CODING LOW None 0.09245 0.09245 0.16731 None None None None None None COL6A2|0.07894144|55.42%
View tsvc_variants_ionxpress_002-4 21 rs9977394
dbSNP Clinvar 		47552130 84.77 A G PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.13978 0.13980 0.15080 None None None None None None COL6A2|0.07894144|55.42%

CRYAA
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 tsvc_variants_ionxpress_002-4 21 rs872331
dbSNP Clinvar 		44589215 786.12 C T PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.50000 0.50000 0.35630 None None None None None None CRYAA|0.039898534|65.8%

CXADR
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 tsvc_variants_ionxpress_002-4 21 rs437470
dbSNP Clinvar 		18937758 114.15 A G PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.18710 0.18710 0.19099 None None None None None None CXADR|0.080142991|55.13%

DIP2A
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 tsvc_variants_ionxpress_002-4 21 rs2070435
dbSNP Clinvar 		47961711 136.18 G A PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.38738 0.38740 0.37032 None None None None None None DIP2A|0.064095824|58.86%
View tsvc_variants_ionxpress_002-4 21 rs7283507
dbSNP Clinvar 		47918662 34.01 C G PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.02935 0.02935 0.06221 0.07 0.00 None None None None None None DIP2A|0.064095824|58.86%
View tsvc_variants_ionxpress_002-4 21 rs2255397
dbSNP Clinvar 		47970581 1108.82 G A PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.26558 0.26560 0.22352 None None None None None None DIP2A|0.064095824|58.86%
View tsvc_variants_ionxpress_002-4 21 rs1107065
dbSNP Clinvar 		47974582 844.53 A G PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.35504 None None None None None None DIP2A|0.064095824|58.86%

DNAJC28
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 tsvc_variants_ionxpress_002-4 21 rs139852262,rs3834674
dbSNP Clinvar 		34860749 136.63 CA... C PASS 0/1 158 FRAME_SHIFT HIGH None 0.15176 0.15180 0.16323 None None None None None None DNAJC28|0.046400837|63.77%

DOPEY2
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 tsvc_variants_ionxpress_002-4 21 rs4817788
dbSNP Clinvar 		37617630 1752.99 T G PASS 1/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.94928 0.94930 0.09949 1.00 0.00 None None None None None None DOPEY2|0.051933664|62.08%

DSCAM
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 tsvc_variants_ionxpress_002-4 21 rs41395652
dbSNP Clinvar 		41725625 67.74 C T PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.01138 0.01138 0.03333 0.09 0.04 None None None None None None DSCAM|0.620706258|11.07%

ETS2
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 tsvc_variants_ionxpress_002-4 21 rs461155
dbSNP Clinvar 		40191638 3590.95 A G PASS 1/1 377 SYNONYMOUS_CODING LOW None 0.58067 0.58070 0.22943 None None None None None None ETS2|0.453014646|18.03%
View tsvc_variants_ionxpress_002-4 21 rs457705
dbSNP Clinvar 		40191431 767.12 T G PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.58107 0.58110 0.22874 None None None None None None ETS2|0.453014646|18.03%

FAM3B
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 tsvc_variants_ionxpress_002-4 21 rs417708
dbSNP Clinvar 		42717662 639.29 T C PASS 1/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

FTCD
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 tsvc_variants_ionxpress_002-4 21 rs1047179
dbSNP Clinvar 		47558473 315.9 G C PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.48103 0.48100 0.47133 None None None None None None FTCD|0.026135815|71.26%
View tsvc_variants_ionxpress_002-4 21 rs12774
dbSNP Clinvar 		47556793 231.77 C T PASS 1/1 25 None None None 0.55192 0.55190 0.00 None None None None None None FTCD|0.026135815|71.26%

GART
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 tsvc_variants_ionxpress_002-4 21 rs8971
dbSNP Clinvar 		34883618 55.53 T C PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.15216 0.15220 0.17361 0.27 0.10 None None None None None None GART|0.670681358|9.36%
View tsvc_variants_ionxpress_002-4 21 rs8788
dbSNP Clinvar 		34897113 310.68 C T PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.87420 0.87420 0.19160 1.00 0.00 None None None None None None GART|0.670681358|9.36%

GRIK1
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 tsvc_variants_ionxpress_002-4 21 rs363504
dbSNP Clinvar 		30925928 33.99 A G PASS 0/1 25 None None None 0.10982 0.10980 0.08453 0.87 0.06 None None None None None None BACH1|0.113830282|48.51%,GRIK1|0.993633799|0.9%

ICOSLG
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 tsvc_variants_ionxpress_002-4 21 . 45655412 651.3 TGG TG... PASS 1/2 111 FRAME_SHIFT HIGH None None None None None None None ICOSLG|0.0015876|92.37%

IFNAR1
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 tsvc_variants_ionxpress_002-4 21 rs2257167
dbSNP Clinvar 		34715699 967.36 G C PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.22883 0.22880 0.14301 0.17 0.42 None None None None None None IFNAR1|0.002595288|89.49%

IFNAR2
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 tsvc_variants_ionxpress_002-4 21 rs1051393
dbSNP Clinvar 		34614255 122.29 T G PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.39177 0.39180 0.27326 0.36 0.00 None None None None None None IFNAR2|0.001133002|94.77%

IGSF5
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 tsvc_variants_ionxpress_002-4 21 rs2837200
dbSNP Clinvar 		41142940 239.23 G A PASS 0/1 171 SYNONYMOUS_CODING LOW None 0.10164 0.10160 0.22882 None None None None None None IGSF5|0.001638685|92.17%
View tsvc_variants_ionxpress_002-4 21 rs2205204
dbSNP Clinvar 		41137507 79.97 G C PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.65955 0.65950 0.35499 1.00 0.00 None None None None None None IGSF5|0.001638685|92.17%

ITGB2
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 tsvc_variants_ionxpress_002-4 21 rs2230528
dbSNP Clinvar 		46320313 261.25 C T PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.22304 0.22300 0.21621 None None None None None None ITGB2|0.063174571|59.06%
View tsvc_variants_ionxpress_002-4 21 rs235330
dbSNP Clinvar 		46314907 603.03 T A PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00015 0.03 0.68 None None None None None None ITGB2|0.063174571|59.06%

ITSN1
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 tsvc_variants_ionxpress_002-4 21 rs776509377
dbSNP Clinvar 		35183453 19.52 A C PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.49 0.02 None None None None None None ITSN1|0.349350199|24.18%
View tsvc_variants_ionxpress_002-4 21 rs2073370
dbSNP Clinvar 		35260481 146.71 T C PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.57568 0.57570 0.44887 None None None None None None ITSN1|0.349350199|24.18%

KCNE1
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 tsvc_variants_ionxpress_002-4 21 rs1805127
dbSNP Clinvar 		35821821 156.33 T C PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.67392 0.67390 0.33808 0.44 0.00 None None None None None None KCNE1|0.029341968|69.68%

KCNJ6
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 tsvc_variants_ionxpress_002-4 21 rs702859
dbSNP Clinvar 		38997701 1075.94 G A PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.77396 0.77400 0.27456 None None None None None None KCNJ6|0.413743485|19.94%
View tsvc_variants_ionxpress_002-4 21 rs2070995
dbSNP Clinvar 		39086965 2012.13 T C PASS 1/1 203 SYNONYMOUS_CODING LOW None 0.82328 0.82330 0.16199 None None None None None None KCNJ6|0.413743485|19.94%

KRTAP10-1
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 tsvc_variants_ionxpress_002-4 21 rs62218858
dbSNP Clinvar 		45959558 210.68 T G PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.60204 0.60200 0.11410 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View tsvc_variants_ionxpress_002-4 21 . 45959844 96.6 G A PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.62 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View tsvc_variants_ionxpress_002-4 21 rs781883293
dbSNP Clinvar 		45959776 24.87 C A PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.99 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View tsvc_variants_ionxpress_002-4 21 rs781835494
dbSNP Clinvar 		45959773 39.86 C T PASS 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View tsvc_variants_ionxpress_002-4 21 rs233319
dbSNP Clinvar 		45959733 411.09 C T PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.59465 0.59460 0.10 0.92 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View tsvc_variants_ionxpress_002-4 21 rs233317
dbSNP Clinvar 		45959312 38.35 C T PASS 1/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.80851 0.80850 0.17392 0.02 0.97 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View tsvc_variants_ionxpress_002-4 21 rs62218859
dbSNP Clinvar 		45959559 210.68 C A PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.60204 0.60200 0.32400 0.05 0.23 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%
View tsvc_variants_ionxpress_002-4 21 rs782816698
dbSNP Clinvar 		45959838 92.12 G C PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.01 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-1|0.003380457|87.97%

KRTAP10-10
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 tsvc_variants_ionxpress_002-4 21 rs2838602
dbSNP Clinvar 		46057393 560.73 T A PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.78175 0.78170 0.23289 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
View tsvc_variants_ionxpress_002-4 21 rs13051517
dbSNP Clinvar 		46058060 362.06 C T PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.35583 0.35580 0.35170 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%
View tsvc_variants_ionxpress_002-4 21 rs4818947
dbSNP Clinvar 		46057548 1131.22 A C PASS 1/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.77836 0.77840 0.23235 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-10|0.003474223|87.81%