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Genes at Omim

ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A2, DIAPH1, FOXE3, KRT12, KRT13, LOX, LTBP2, MYLK, NLRP1, PIK3R1, PIKFYVE, SIX5, SLC4A11, TCF4, ZNF469,
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
COL12A1 Bethlem myopathy 2, 616471 (3)
?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease with or without ocular anomalies, 175780 (3)
?Retinal arteries, tortuosity of, 180000 (3)
Schizencephaly, 269160 (3)
COL4A2 {Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease 2, 614483 (3)
COL4A3 Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 3, autosomal dominant, 104200 (3)
Hematuria, benign familial, 141200 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL5A2 Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
DIAPH1 Deafness, autosomal dominant 1, 124900 (3)
Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
FOXE3 Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)
Cataract 34, multiple types, 612968 (3)
{Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
KRT12 Meesmann corneal dystrophy, 122100 (3)
KRT13 White sponge nevus 2, 615785 (3)
LOX Aortic aneurysm, familial thoracic 10, 617168 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NLRP1 Autoinflammation with arthritis and dyskeratosis, 617388 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
PIK3R1 Immunodeficiency 36, 616005 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
SHORT syndrome, 269880 (3)
PIKFYVE Corneal fleck dystrophy, 121850 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A2, DIAPH1, FOXE3, KRT12, KRT13, LTBP2, MYLK, NLRP1, PIK3R1, PIKFYVE, SIX5, SLC4A11, TCF4, ZNF469,
ABCC6 Pseudoxanthoma elasticum
ADAMTS18 Knobloch syndrome 2
Microcornea, myopic chorioretinal atrophy, and telecanthus
Retinal dystrophy, early onset, autosomal recessive
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with or without ocular anomalies
Anterior segment dysgenesis with cerebral involvement
Porencephaly 1
Retinal artery tortuosity
Schizencephaly
COL4A2 Hemorrhage, intracerebral, susceptibility to
COL4A3 Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
COL4A4 Alport syndrome, autosomal recessive
COL5A2 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
DIAPH1 Deafness, autosomal dominant 1
FOXE3 Aphakia, congenital primary
Anterior segment mesenchymal dysgenesis
KRT12 Meesmann corneal dystrophy
KRT13 White sponge nevus 2
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MYLK Aortic aneurysm, familial thoracic 7
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PIKFYVE Corneal fleck dystrophy
SIX5 Branchiootorenal syndrome 2
SLC4A11 Cryohydrocytosis
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 78
Number of Genes: 34

Export to: CSV
  • Page 1 of 1

ABCB5

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 4450_s11 7 rs2074000
dbSNP Clinvar
20685484 100.0 C A PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.14317 0.14320 0.00641 0.00 0.85 None None None None None None ABCB5|0.12579132|46.5%
View 4450_s11 7 rs6461515
dbSNP Clinvar
20778646 100.0 G A PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.75679 0.75680 0.22620 0.13 0.81 None None None None None None ABCB5|0.12579132|46.5%
View 4450_s11 7 rs62453384
dbSNP Clinvar
20762646 100.0 G T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.23223 0.23220 0.29909 0.00 0.57 None None None None None None ABCB5|0.12579132|46.5%

ABCC6

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 4450_s11 16 rs6416668
dbSNP Clinvar
16271357 100.0 T C PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.96426 0.96430 0.03556 0.29 0.00 None None None None None None ABCC6|0.022547171|72.9%
View 4450_s11 16 rs12931472
dbSNP Clinvar
16281007 82.0 A G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.33946 0.33950 0.46398 0.77 0.00 None None None None None None ABCC6|0.022547171|72.9%
View 4450_s11 16 rs8058694
dbSNP Clinvar
16278863 100.0 G T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.33267 0.33270 0.45306 0.59 0.00 None None None None None None ABCC6|0.022547171|72.9%

ADAMTS18

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 4450_s11 16 rs11640912
dbSNP Clinvar
77359919 100.0 A T PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.31887 0.00 0.01 None None None None None None ADAMTS18|0.112557021|48.75%
View 4450_s11 16 rs12935394
dbSNP Clinvar
77328990 100.0 C A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.11402 0.11400 0.09388 0.92 0.00 None None None None None None ADAMTS18|0.112557021|48.75%
View 4450_s11 16 rs9930984
dbSNP Clinvar
77353973 100.0 G T PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.63498 0.63500 0.48561 0.12 0.00 None None None None None None ADAMTS18|0.112557021|48.75%

AGBL1

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 4450_s11 15 rs8028043
dbSNP Clinvar
87217613 100.0 A G PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.89217 0.89220 0.11030 1.00 0.00 None None None None None None AGBL1|0.082073978|54.74%
View 4450_s11 15 rs11857527
dbSNP Clinvar
86807843 93.0 T C PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.13359 0.13360 0.16900 0.05 0.00 None None None None None None AGBL1|0.082073978|54.74%

COL12A1

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 4450_s11 6 rs970547
dbSNP Clinvar
75797302 100.0 C T PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.71186 0.71190 0.25525 0.02 1.00 None None None None None None COL12A1|0.494206072|16.13%
View 4450_s11 6 rs240736
dbSNP Clinvar
75848181 100.0 A G PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.26498 0.26500 0.29199 0.36 0.00 None None None None None None COL12A1|0.494206072|16.13%

COL17A1

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 4450_s11 10 rs17116471
dbSNP Clinvar
105840422 100.0 T C PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.02097 0.02097 0.00154 0.01 0.11 None None None None None None COL17A1|0.220252717|34.39%
View 4450_s11 10 rs805698
dbSNP Clinvar
105816916 100.0 C T PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.81849 0.81850 0.15113 0.46 0.00 None None None None None None COL17A1|0.220252717|34.39%
View 4450_s11 10 rs805722
dbSNP Clinvar
105810400 100.0 T C PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.69369 0.69370 0.28095 0.64 0.00 None None None None None None COL17A1|0.220252717|34.39%
View 4450_s11 10 rs805708
dbSNP Clinvar
105824333 100.0 G A PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.56490 0.56490 0.41489 0.00 0.89 None None None None None None COL17A1|0.220252717|34.39%

COL2A1

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 4450_s11 12 rs3803183
dbSNP Clinvar
48398080 100.0 T A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.68530 0.68530 0.21085 0.18 0.00 None None None None None None COL2A1|0.956600158|2.04%
View 4450_s11 12 rs2070739
dbSNP Clinvar
48367976 100.0 C T PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.17093 0.17090 0.06981 0.05 1.00 None None None None None None COL2A1|0.956600158|2.04%

COL4A1

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 4450_s11 13 rs536174
dbSNP Clinvar
110839550 100.0 T G PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%

COL4A2

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 4450_s11 13 rs764002137
dbSNP Clinvar
111102786 100.0 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.34 0.10 None None None None None None COL4A2|0.044971251|64.22%

COL4A3

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 4450_s11 2 rs6436669
dbSNP Clinvar
228113175 100.0 A G PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.79633 0.79630 0.22987 1.00 0.01 None None None None None None COL4A3|0.119573089|47.51%
View 4450_s11 2 rs10178458
dbSNP Clinvar
228111435 100.0 T C PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.79673 0.79670 0.22958 1.00 0.01 None None None None None None COL4A3|0.119573089|47.51%
View 4450_s11 2 rs28381984
dbSNP Clinvar
228135631 100.0 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.39996 0.40000 0.38901 0.01 1.00 None None None None None None COL4A3|0.119573089|47.51%
View 4450_s11 2 rs55703767
dbSNP Clinvar
228121101 80.0 G T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.11582 0.11580 0.16577 0.06 0.16 None None None None None None COL4A3|0.119573089|47.51%

COL4A4

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 4450_s11 2 rs2229814
dbSNP Clinvar
227954599 100.0 G A PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.54852 0.54850 0.49096 0.87 0.00 None None None None None None COL4A4|0.099677436|51.24%

COL5A2

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 4450_s11 2 rs558404005
dbSNP Clinvar
189904156 60.0 G A PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.09 0.98 None None None None None None COL5A2|0.575233366|12.81%

DIAPH1

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 4450_s11 5 rs1034109754
dbSNP Clinvar
140998394 84.0 C T PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.99 None None None None None None DIAPH1|0.460968984|17.63%

FOXE3

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 4450_s11 1 rs1006047408
dbSNP Clinvar
47882058 84.0 C T PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.03 None None None None None None FOXE3|0.032576489|68.36%

GPR98

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 4450_s11 5 rs2438374
dbSNP Clinvar
90107108 100.0 A G PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.94609 0.94610 0.06388 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 4450_s11 5 rs2366928
dbSNP Clinvar
90024735 100.0 G A PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.82907 0.82910 0.24704 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 4450_s11 5 rs4916684
dbSNP Clinvar
89979589 100.0 G A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.80371 0.80370 0.27248 0.89 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 4450_s11 5 rs2366777
dbSNP Clinvar
89943571 100.0 G T PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.81030 0.81030 0.27251 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 4450_s11 5 rs41303352
dbSNP Clinvar
89979691 75.0 A G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.18921 0.09 0.01 None None None None None None ADGRV1|0.328571635|25.58%
View 4450_s11 5 rs16868972
dbSNP Clinvar
89979750 75.0 G T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.31370 0.31370 0.22990 0.06 1.00 None None None None None None ADGRV1|0.328571635|25.58%
View 4450_s11 5 rs1878878
dbSNP Clinvar
89990324 100.0 A G PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.80851 0.80850 0.26875 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 4450_s11 5 rs2247870
dbSNP Clinvar
90151589 100.0 G A PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.45907 0.45910 0.43475 0.08 0.18 None None None None None None ADGRV1|0.328571635|25.58%
View 4450_s11 5 rs2438378
dbSNP Clinvar
90119324 100.0 G A PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.97224 0.97220 0.02790 0.25 0.00 None None None None None None ADGRV1|0.328571635|25.58%

KRT12

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 4450_s11 17 rs17566772
dbSNP Clinvar
39023381 100.0 G A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.05371 0.05371 0.06420 0.00 0.00 None None None None None None KRT12|0.089362402|53.37%
View 4450_s11 17 rs11650915
dbSNP Clinvar
39023396 100.0 G A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.30951 0.30950 0.27126 1.00 0.00 None None None None None None KRT12|0.089362402|53.37%

KRT13

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 4450_s11 17 rs9891361
dbSNP Clinvar
39659913 100.0 G A PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.30486 0.04 0.78 None None None None None None KRT13|0.071438602|57.11%
View 4450_s11 17 rs4796697
dbSNP Clinvar
39659194 100.0 T C PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.90395 0.90400 0.08496 0.04 0.03 None None None None None None KRT13|0.071438602|57.11%

KRT15

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 4450_s11 17 rs1050784
dbSNP Clinvar
39674641 100.0 T C PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.73283 0.73280 0.37967 0.58 0.01 None None None None None None KRT15|0.103828379|50.45%
View 4450_s11 17 rs897420
dbSNP Clinvar
39670912 100.0 G C PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.02791 0.62 0.00 None None None None None None KRT15|0.103828379|50.45%

KRT23

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 4450_s11 17 rs9257
dbSNP Clinvar
39084504 100.0 T C PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.58327 0.58330 0.45002 1.00 0.00 None None None None None None KRT23|0.054190188|61.41%

KRT24

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 4450_s11 17 rs2462961
dbSNP Clinvar
38855772 100.0 T C PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.48693 1.00 0.00 None None None None None None KRT24|0.036955337|66.8%
View 4450_s11 17 rs874889
dbSNP Clinvar
38857446 100.0 C A PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.47684 0.47680 0.38090 0.57 0.00 None None None None None None KRT24|0.036955337|66.8%

LOX

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 4450_s11 5 rs1800449
dbSNP Clinvar
121413208 100.0 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.15675 0.15670 0.17534 0.44 0.00 None None None None None None LOX|0.986128219|1.23%

LTBP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 4450_s11 14 rs2304707
dbSNP Clinvar
75022271 100.0 G T PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.08766 0.08766 0.08965 0.06 0.22 None None None None None None LTBP2|0.184719306|38.39%

MAP3K19

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 4450_s11 2 rs16831235
dbSNP Clinvar
135745129 100.0 G A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.13239 0.13240 0.13002 0.02 0.17 None None None None None None MAP3K19|0.070109416|57.46%

MYLK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 4450_s11 3 rs9833275
dbSNP Clinvar
123451773 100.0 G C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.99900 0.99900 0.00138 1.00 0.00 None None None None None None MYLK|0.503223171|15.7%
View 4450_s11 3 rs9840993
dbSNP Clinvar
123457893 100.0 G A PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.85623 0.85620 0.12756 0.09 0.05 None None None None None None MYLK|0.503223171|15.7%

NLRP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 4450_s11 17 rs2301582
dbSNP Clinvar
5436263 100.0 C T PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.18431 0.18430 0.30663 0.13 0.02 None None None None None None NLRP1|0.001451196|93.02%
View 4450_s11 17 . 5425076 100.0 AT GC PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.00 None None None None None None NLRP1|0.001451196|93.02%
View 4450_s11 17 rs12150220
dbSNP Clinvar
5485367 100.0 A T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.19209 0.19210 0.33223 0.05 0.67 None None None None None None NLRP1|0.001451196|93.02%

PIK3R1

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 4450_s11 5 rs3730089
dbSNP Clinvar
67588148 100.0 G A PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.22045 0.22040 0.23828 0.41 0.00 None None None None None None PIK3R1|0.917149804|3.05%

PIKFYVE

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 4450_s11 2 rs10932258
dbSNP Clinvar
209184980 100.0 G A PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.99181 0.99180 0.00785 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 4450_s11 2 rs1529979
dbSNP Clinvar
209191082 100.0 C A PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.07766 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 4450_s11 2 rs999890
dbSNP Clinvar
209190632 100.0 T G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.09904 0.09904 0.14117 0.16 0.06 None None None None None None PIKFYVE|0.407766308|20.32%
View 4450_s11 2 rs893253
dbSNP Clinvar
209190528 100.0 C G PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.91214 0.91210 0.07689 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 4450_s11 2 rs893254
dbSNP Clinvar
209190519 100.0 A T PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.07766 0.22 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 4450_s11 2 rs2363468
dbSNP Clinvar
209190330 100.0 T C PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.91174 0.91170 0.07758 0.88 0.00 None None None None None None PIKFYVE|0.407766308|20.32%

PXN

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 4450_s11 12 rs4767884
dbSNP Clinvar
120661977 100.0 T C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.90076 0.90080 0.16978 0.56 0.00 None None None None None None PXN|0.716901595|8.07%

SFTPD

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 4450_s11 10 rs721917
dbSNP Clinvar
81706324 100.0 A G PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.50459 0.50460 0.41358 0.32 0.00 None None None None None None SFTPD|0.023000884|72.72%
View 4450_s11 10 rs2243639
dbSNP Clinvar
81701722 100.0 T C PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.77037 0.77040 0.28395 1.00 0.00 None None None None None None SFTPD|0.023000884|72.72%
View 4450_s11 10 rs3088308
dbSNP Clinvar
81697868 100.0 A T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.08247 0.08247 0.05582 0.12 0.01 None None None None None None SFTPD|0.023000884|72.72%

SIX5

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 4450_s11 19 rs2014576
dbSNP Clinvar
46269076 100.0 G A PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.50100 0.50100 0.40317 0.61 0.00 None None None None None None SIX5|0.127519574|46.26%
View 4450_s11 19 rs2014377
dbSNP Clinvar
46269313 100.0 G C PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.90395 0.90400 0.12762 1.00 0.00 None None None None None None SIX5|0.127519574|46.26%

SLC4A11

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 4450_s11 20 rs3810562
dbSNP Clinvar
3218634 100.0 G C PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.64157 0.64160 0.67 0.00 None None None None None None SLC4A11|0.04004945|65.76%

TCF4

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 4450_s11 18 rs611326
dbSNP Clinvar
53303101 100.0 C G PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00123 0.52 0.00 None None None None None None TCF4|0.999272266|0.38%

TLN1

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 4450_s11 9 rs2295795
dbSNP Clinvar
35712003 100.0 G A PASS 1/1 25 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.20148 0.20150 0.20667 0.12 0.00 None None None None None None TLN1|0.598640538|11.8%

ZNF469

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 4450_s11 16 rs904783
dbSNP Clinvar
88504868 100.0 A G PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00022 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 4450_s11 16 rs1105066
dbSNP Clinvar
88504850 100.0 G C PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.39097 0.39100 0.45093 0.12 None None None None None None ZNF469|0.000923153|95.92%
View 4450_s11 16 rs1983014
dbSNP Clinvar
88502505 100.0 A G PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.00483 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 4450_s11 16 rs79155191
dbSNP Clinvar
88499910 100.0 G A PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.01058 0.01058 0.01117 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 4450_s11 16 rs4782300
dbSNP Clinvar
88498221 100.0 C T PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.84425 0.84420 0.12275 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 4450_s11 16 rs113937803
dbSNP Clinvar
88495163 100.0 G A PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.04712 0.04712 0.01 None None None None None None ZNF469|0.000923153|95.92%
View 4450_s11 16 rs7197071
dbSNP Clinvar
88497446 100.0 A G PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.81889 0.81890 0.18601 0.01 None None None None None None ZNF469|0.000923153|95.92%
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