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Genes at Omim

AIRE, APP, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, DONSON, DYRK1A, FTCD, HLCS, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, MCM3AP, NRIP1, 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)
APP Alzheimer disease 1, familial, 104300 (3)
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (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)
?Myosclerosis, congenital, 255600 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
CRYAA Cataract 9, multiple types, 604219 (3)
DONSON Microcephaly, short stature, and limb abnormalities, 617604 (3)
Microcephaly-micromelia syndrome, 251230 (3)
DYRK1A Mental retardation, autosomal dominant 7, 614104 (3)
FTCD Glutamate formiminotransferase deficiency, 229100 (3)
HLCS Holocarboxylase synthetase deficiency, 253270 (3)
IFNAR2 {Hepatitis B virus, susceptibility to}, 610424 (3)
?Immunodeficiency 45, 616669 (3)
ITGB2 Leukocyte adhesion deficiency, 116920 (3)
KCNE1 Long QT syndrome 5, 613695 (3)
Jervell and Lange-Nielsen syndrome 2, 612347 (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)
NRIP1 ?Congenital anomalies of kidney and urinary tract 3, 618270 (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, APP, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, DYRK1A, FTCD, HLCS, IFNAR2, IL10RB, ITGB2, KCNE1, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, RSPH1, SIK1, TMPRSS15, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
APP Alzheimer disease, familial
Cerebral amyloid angiopathy
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
DYRK1A Mental retardation, autosomal dominant 7
FTCD Glutamate formiminotransferase deficiency
HLCS Holocarboxylase synthetase deficiency
IFNAR2 Immunodeficiency 45
IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive
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
NRIP1 Schizophrenia
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: 1459
Number of Genes: 136

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs434857
dbSNP Clinvar
28217178 36716.4 T G . 1/1 162 SYNONYMOUS_CODING LOW None 0.68890 0.68890 0.17773 None None None None None None ADAMTS1|0.304173311|27.34%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs428785
dbSNP Clinvar
28216595 31738.3 C G . 1/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.68910 0.68910 0.18987 0.25 0.00 0.84 None None None None None None ADAMTS1|0.304173311|27.34%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs436525
dbSNP Clinvar
28212760 36063.4 G A . 1/1 197 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.32493 None None None None None None ADAMTS1|0.304173311|27.34%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs445784
dbSNP Clinvar
28216692 36530.4 G T . 1/1 172 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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs226794
dbSNP Clinvar
28302355 23138.3 A G . 1/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.80970 0.80970 0.08527 1.00 0.00 0.45 None None None None None None ADAMTS5|0.324991256|25.8%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs457947
dbSNP Clinvar
28338298 20170.9 C G . 1/1 161 NON_SYNONYMOUS_CODING MODERATE None 0.13998 0.14000 0.18702 0.30 0.60 1.36 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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1051367
dbSNP Clinvar
46641968 8159.9 G A . 0/1 150 SYNONYMOUS_CODING LOW None 0.49401 0.49400 0.49692 0.33 None None None None None None ADARB1|0.037848146|66.51%

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs74162061
dbSNP Clinvar
45708284 1518.9 G A . 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.00399 0.00399 0.00315 0.18 1.00 0.72 None None None None None None AIRE|0.006628229|83.92%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1800521
dbSNP Clinvar
45712977 13203.3 T C . 0/1 71 SYNONYMOUS_CODING LOW None 0.35623 0.35620 0.39350 None None None None None None AIRE|0.006628229|83.92%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1800520
dbSNP Clinvar
45709906 7237.94 C G . 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.22824 0.22820 0.15638 1.00 0.00 -0.74 None None rs1800520 3 not_specified None AIRE|0.006628229|83.92%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1133779
dbSNP Clinvar
45717550 5585.9 T C . 0/1 43 SYNONYMOUS_CODING LOW None 0.53035 0.53040 0.49438 None None None None None None AIRE|0.006628229|83.92%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs3746964
dbSNP Clinvar
45705988 9038.9 T C . 0/1 59 SYNONYMOUS_CODING LOW None 0.23942 0.23940 0.13711 None None None None None None AIRE|0.006628229|83.92%

APP

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs45537238
dbSNP Clinvar
27326977 691.33 A G . 0/1 65 SYNONYMOUS_CODING LOW None 0.02476 0.02476 0.02591 1.27 None None None None None None APP|0.993008957|0.94%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs112263157
dbSNP Clinvar
27284122 7404.94 T C . 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.00379 0.00379 0.00592 0.43 0.00 2.35 None None None None None None APP|0.993008957|0.94%

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs4591
dbSNP Clinvar
35281393 12205.3 A G . 1/1 96 SYNONYMOUS_CODING LOW None 0.70208 0.70210 0.29940 -0.55 None None None None None None ATP5O|0.055947808|60.93%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs9980730
dbSNP Clinvar
35275955 14125.3 G A . 1/1 87 None None None 0.99101 0.99100 0.02237 0.66 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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs3746887
dbSNP Clinvar
41032740 13489.9 T C . 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.65336 0.65340 0.31493 1.00 0.00 -1.95 None None None None None None B3GALT5|0.004441095|86.45%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs734413
dbSNP Clinvar
41032804 15744.9 G A . 0/1 179 SYNONYMOUS_CODING LOW None 0.62939 0.62940 0.33746 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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1046210
dbSNP Clinvar
42622786 1605.33 C T . 0/1 101 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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs388707
dbSNP Clinvar
30714776 4776.9 T C . 0/1 119 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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1041439
dbSNP Clinvar
40571246 29447.3 A G . 1/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.85284 0.85280 0.05336 0.52 0.00 -1.47 None None None None None None BRWD1|0.163713366|41.06%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs6517529
dbSNP Clinvar
40584598 8529.35 C T . 1/1 50 SYNONYMOUS_CODING LOW None 0.85164 0.85160 0.05362 2.00 None None None None None None BRWD1|0.163713366|41.06%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2183573
dbSNP Clinvar
40574305 13921.9 A G . 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.61861 0.61860 0.40143 0.03 0.77 3.37 None None None None None None BRWD1|0.163713366|41.06%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2836972
dbSNP Clinvar
40652142 3545.9 G A . 0/1 86 SYNONYMOUS_CODING LOW None 0.21506 0.21510 0.33308 None None None None None None BRWD1|0.163713366|41.06%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs139797089
dbSNP Clinvar
40572282 7526.94 G C . 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00185 0.00 0.99 5.75 0.05 0.66096 D None None None None BRWD1|0.163713366|41.06%

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs11870
dbSNP Clinvar
45759045 5056.94 C T . 0/1 56 SYNONYMOUS_CODING LOW None 0.32608 0.32610 0.24219 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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs968714
dbSNP Clinvar
45553596 16800.9 T C . 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.59185 0.59190 0.34155 0.83 0.00 -1.24 None None None None None None C21orf33|0.016835395|76%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs116277272
dbSNP Clinvar
45560939 2365.33 G A . 0/1 136 None None None 0.00759 0.00759 0.11 0.00 -0.22 None None None None None None C21orf33|0.016835395|76%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs74418161
dbSNP Clinvar
45557227 1992.33 G A . 0/1 131 None None None 0.03934 0.03934 0.03983 0.07 None None None None None None C21orf33|0.016835395|76%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs7676
dbSNP Clinvar
45565473 23175.9 C T . 0/1 154 None None None 0.75200 0.75200 -0.31 None None None None None None C21orf33|0.016835395|76%

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs74617086
dbSNP Clinvar
34166190 26122.3 A T . 1/1 126 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 0.05 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2231390
dbSNP Clinvar
34166343 21918.9 C T . 1/1 139 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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs61735800
dbSNP Clinvar
43329572 389.33 T C . 0/1 32 SYNONYMOUS_CODING LOW None 0.03914 0.03914 0.03337 None None None None None None C2CD2|0.005649792|85.05%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2277795
dbSNP Clinvar
43327117 8696.9 C T . 1/1 85 SYNONYMOUS_CODING LOW None 0.30092 0.30090 0.26703 None None None None None None C2CD2|0.005649792|85.05%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs3746904
dbSNP Clinvar
43327793 1083.33 C T . 0/1 78 SYNONYMOUS_CODING LOW None 0.36582 0.36580 0.35322 None None None None None None C2CD2|0.005649792|85.05%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839422
dbSNP Clinvar
43338328 1359.33 C A . 0/1 83 SYNONYMOUS_CODING LOW None 0.06669 0.06669 0.05621 None None None None None None C2CD2|0.005649792|85.05%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839421
dbSNP Clinvar
43338302 1458.33 A G . 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.08007 0.08007 0.07258 0.83 0.00 -0.89 None None None None None None C2CD2|0.005649792|85.05%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs3746906
dbSNP Clinvar
43327856 13360.3 A G . 0/1 64 SYNONYMOUS_CODING LOW None 0.60743 0.60740 0.36568 None None None None None None C2CD2|0.005649792|85.05%

CBR1

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs748123541
dbSNP Clinvar
37444512 11179.9 G C . 0/1 132 None None None 0.40 0.00 1.45 0.00 0.0976 T None None None None SETD4|0.031167746|68.91%,CBR1|0.018056419|75.24%

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs881711
dbSNP Clinvar
37507745 29580.3 C T . 1/1 145 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1056892
dbSNP Clinvar
37518706 29910.3 G A . 1/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.42712 0.42710 0.39874 0.07 0.21 2.43 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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs73906420
dbSNP Clinvar
44485590 11644.9 C T . 0/1 131 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00439 0.00439 0.00684 None None None None None None CBS|0.170288794|40.28%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1801181
dbSNP Clinvar
44480616 1643.33 G A . 0/1 114 SYNONYMOUS_CODING LOW None 0.29553 0.29550 0.26269 0.31 None None rs1801181 2_2 not_specified_not_provided None CBS|0.170288794|40.28%

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs113831133
dbSNP Clinvar
37833983 15001.9 G A . 1/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.04712 0.04712 0.04395 1.00 0.05 0.36 None None rs113831133 2 not_specified None CLDN14|0.178050404|39.29%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs219779
dbSNP Clinvar
37833751 31398.3 G A . 1/1 150 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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs686364
dbSNP Clinvar
31587793 11836.9 A G . 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.41873 0.41870 0.38428 1.00 0.00 -0.47 None None None None None None CLDN8|0.022912612|72.76%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs685967
dbSNP Clinvar
31587859 2084.33 T C . 0/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.08287 0.08287 0.08481 0.57 0.26 -0.31 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 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs9680380
dbSNP Clinvar
36042203 73396.4 G C . 1/1 355 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs7280973
dbSNP Clinvar
36041978 61241.4 A G . 1/1 282 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%

COL18A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs8133886
dbSNP Clinvar
46876580 10523.9 C T . 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.42652 0.42650 0.00 0.96 1.61 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2236467
dbSNP Clinvar
46900410 2898.33 C T . 0/1 214 SYNONYMOUS_CODING LOW None 0.15595 0.15600 0.12962 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs914230
dbSNP Clinvar
46875564 32478.3 T C . 1/1 148 SYNONYMOUS_CODING LOW None 0.98842 0.98840 0.03067 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs149578781
dbSNP Clinvar
46888337 2323.33 C T . 0/1 166 SYNONYMOUS_CODING LOW None 0.00080 0.00080 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs9980939
dbSNP Clinvar
46930010 1352.33 A G . 0/1 96 SYNONYMOUS_CODING LOW None 0.02376 0.02376 0.01538 -0.33 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs149296338,rs78227997
dbSNP Clinvar
46924425 17511.3 CG... C . 1/1 74 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2230693
dbSNP Clinvar
46913477 724.33 G C . 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.06310 0.06310 0.02801 0.16 0.01 0.51 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs11702425
dbSNP Clinvar
46908355 7163.9 T C . 0/1 135 SYNONYMOUS_CODING LOW None 0.31989 0.31990 0.31287 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1131102
dbSNP Clinvar
46899872 2321.33 C A . 0/1 119 SYNONYMOUS_CODING LOW None 0.14038 0.14040 0.11418 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1131101
dbSNP Clinvar
46899857 2413.33 C T . 0/1 124 SYNONYMOUS_CODING LOW None 0.15735 0.15730 0.13061 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1131100
dbSNP Clinvar
46899842 2474.33 C T . 0/1 124 SYNONYMOUS_CODING LOW None 0.16314 0.16310 0.13102 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2230688
dbSNP Clinvar
46896312 2168.33 G T . 0/1 124 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.16551 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2230687
dbSNP Clinvar
46896303 2178.33 C G . 0/1 124 SYNONYMOUS_CODING LOW None 0.00499 0.00499 0.18044 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2230686
dbSNP Clinvar
46896294 1954.33 G A . 0/1 121 SYNONYMOUS_CODING LOW None 0.09585 0.09585 0.06832 None None None None None None COL18A1|0.045578537|64.02%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs77180157
dbSNP Clinvar
46876717 2025.33 G C . 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.04792 0.04792 0.09 0.98 0.39 None None None None None None COL18A1|0.045578537|64.02%

COL6A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs13051496
dbSNP Clinvar
47423509 20197.9 C T . 1/1 181 NON_SYNONYMOUS_CODING MODERATE None 0.10883 0.10880 0.16187 0.06 0.04 2.09 None None rs13051496 2 not_specified None COL6A1|0.085741402|53.99%

COL6A2

Omim - GeneCards - NCBI
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RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs6652
dbSNP Clinvar
47552385 8912.9 C T . 0/1 170 SYNONYMOUS_CODING LOW None 0.09245 0.09245 0.16731 None None None None None None COL6A2|0.07894144|55.42%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1042917
dbSNP Clinvar
47545768 15891.9 G A . 0/1 217 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.41296 0.10 0.98 5.33 None None rs1042917 2 not_specified None COL6A2|0.07894144|55.42%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839114
dbSNP Clinvar
47545913 16401.9 G A . 0/1 233 SYNONYMOUS_CODING LOW None 0.32209 0.32210 0.29156 None None None None None None COL6A2|0.07894144|55.42%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs13046639
dbSNP Clinvar
47545826 19127.9 C T . 0/1 207 SYNONYMOUS_CODING LOW None 0.39397 0.39400 0.41258 None None None None None None COL6A2|0.07894144|55.42%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs35548026
dbSNP Clinvar
47552209 24412.9 G A . 0/1 177 NON_SYNONYMOUS_CODING MODERATE None 0.06729 0.06729 0.08140 0.36 0.26 2.88 None None rs35548026 2 not_specified None COL6A2|0.07894144|55.42%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2839110
dbSNP Clinvar
47538960 10649.3 G A . 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.27077 0.91 0.00 0.59 None None rs2839110 2 not_specified None COL6A2|0.07894144|55.42%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs13052956
dbSNP Clinvar
47545823 19044.9 G A . 0/1 207 SYNONYMOUS_CODING LOW None 0.39417 0.39420 0.41273 None None None None None None COL6A2|0.07894144|55.42%

CRYAA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs872331
dbSNP Clinvar
44589215 12313.9 C T . 0/1 160 SYNONYMOUS_CODING LOW None 0.50000 0.50000 0.35630 None None None None None None CRYAA|0.039898534|65.8%

CRYZL1

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs150804586
dbSNP Clinvar
34967749 982.33 G C . 0/1 76 None None None 0.00120 0.00120 0.01 0.10 None None None None None None CRYZL1|0.143917113|43.88%

DNAJC28

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs546970347,rs368520867
dbSNP Clinvar
34861335 2802.29 AT... A . 0/1 176 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00439 0.00439 0.00655 None None None None None None DNAJC28|0.046400837|63.77%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs78121368
dbSNP Clinvar
34860833 3127.33 T G . 0/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.02097 0.02097 0.02360 1.00 0.00 -0.56 None None None None None None DNAJC28|0.046400837|63.77%

DNMT3L

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs7354779
dbSNP Clinvar
45670770 2301.33 T C . 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.16514 0.16510 0.25496 0.00 0.19 0.94 None None None None None None DNMT3L|0.006860897|83.61%

DONSON

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs147521584
dbSNP Clinvar
34950699 1874.33 C T . 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00092 0.07 0.08 2.59 None None None None None None DONSON|0.208826742|35.71%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs373262818
dbSNP Clinvar
34954273 1559.33 T C . 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.70 0.00 -0.89 0.00 0.03019 T None None None None DONSON|0.208826742|35.71%

DOPEY2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2835322
dbSNP Clinvar
37609571 12085.9 T C . 0/1 100 SYNONYMOUS_CODING LOW None 0.43990 0.43990 0.47424 None None None None None None DOPEY2|0.051933664|62.08%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs4817788
dbSNP Clinvar
37617630 53770.4 T G . 1/1 276 NON_SYNONYMOUS_CODING MODERATE None 0.94928 0.94930 0.09949 1.00 0.00 -1.91 None None None None None None DOPEY2|0.051933664|62.08%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs9978057
dbSNP Clinvar
37664501 3682.9 G A . 0/1 62 SYNONYMOUS_CODING LOW None 0.19449 0.19450 0.27188 None None None None None None DOPEY2|0.051933664|62.08%

DSCAM

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2297263
dbSNP Clinvar
41455854 1097.33 G A . 0/1 79 SYNONYMOUS_CODING LOW None 0.07708 0.07708 0.06550 None None None None None None DSCAM|0.620706258|11.07%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2297270
dbSNP Clinvar
41725630 12975.9 G C . 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.14257 0.14260 0.10516 0.92 0.00 -1.76 None None None None None None DSCAM|0.620706258|11.07%

DYRK1A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs138086853
dbSNP Clinvar
38862643 9784.94 G A . 0/1 136 SYNONYMOUS_CODING LOW None 0.00180 0.00180 0.00154 None None None None None None DYRK1A|0.889451325|3.69%

ETS2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs566869068
dbSNP Clinvar
40191443 10299.9 C T . 0/1 100 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None ETS2|0.453014646|18.03%

EVA1C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1129157
dbSNP Clinvar
33887131 8665.94 G A . 0/1 105 SYNONYMOUS_CODING LOW None 0.49082 0.49080 0.37060 None None None None None None EVA1C|0.061100423|59.56%

FAM207A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2294168
dbSNP Clinvar
46387078 9773.94 G T . 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.10923 0.10920 0.11783 0.07 0.48 2.49 None None None None None None FAM207A|0.005455719|85.27%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs3737075
dbSNP Clinvar
46396659 11343.9 G C . 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.15216 0.15220 0.17443 1.00 0.00 -0.62 None None None None None None FAM207A|0.005455719|85.27%

FAM3B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs417708
dbSNP Clinvar
42717662 9493.35 T C . 1/1 53 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs12774
dbSNP Clinvar
47556793 17981.9 C T . 0/1 200 None None None 0.55192 0.55190 0.00 None None None None None None FTCD|0.026135815|71.26%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs1047209
dbSNP Clinvar
47556809 13094.9 C T . 0/1 208 None None None 0.15855 0.15850 -0.68 None None None None None None FTCD|0.026135815|71.26%

GART

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs8788
dbSNP Clinvar
34897113 30903.3 C T . 1/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.87420 0.87420 0.19160 1.00 0.00 1.24 None None None None None None GART|0.670681358|9.36%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs148803928
dbSNP Clinvar
34900636 1589.33 G A . 0/1 101 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.00092 None None None None None None GART|0.670681358|9.36%

GRIK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs363538
dbSNP Clinvar
31062070 5914.9 T G . 0/1 127 SYNONYMOUS_CODING LOW None 0.34026 0.34030 0.26911 None None None None None None GRIK1|0.993633799|0.9%

HLCS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs556454789
dbSNP Clinvar
38302691 7366.94 G A . 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.45 0.00 -0.46 0.05 0.63133 D None None None None HLCS|0.002146669|90.61%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs112176097
dbSNP Clinvar
38309272 15702.9 G A . 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00269 0.11 0.00 0.37 0.05 0.65959 D None None None None HLCS|0.002146669|90.61%

HMGN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs34613278
dbSNP Clinvar
40720494 6997.9 C T . 0/1 96 None None None 0.05911 0.05911 0.07683 0.22 0.00 2.72 None None None None None None HMGN1|0.109298147|49.32%

HUNK

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs2070371
dbSNP Clinvar
33368188 4372.9 T C . 0/1 91 SYNONYMOUS_CODING LOW None 0.70308 0.70310 0.25704 None None None None None None HUNK|0.065973255|58.37%
View 17-11096s1 germline-multisample gatk annotated 17-11097s2 21 rs9305483
dbSNP Clinvar
33370900 7052.9 T C . 0/1 127 SYNONYMOUS_CODING LOW None 0.63478 0.63480 0.38182 None None None None None None HUNK|0.065973255|58.37%