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+ Genes 117

+ Genes associated with diseases 33

Genes at Omim

AFG3L2, ATP8B1, BCL2, CTDP1, CYB5A, DCC, DSC3, DSG1, DSG2, DSG4, ELP2, EPG5, FECH, KDSR, LAMA1, LAMA3, LMAN1, MOCOS, MYO5B, NDUFV2, NPC1, NPC1, PIEZO2, RNF125, RTTN, SERPINB8, SETBP1, SLC14A1, TAF4B, TCF4, TGIF1, TNFRSF11A, TUBB6,
AFG3L2 Spastic ataxia 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
BCL2 Leukemia/lymphoma, B-cell, 2 (3)
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
CYB5A Methemoglobinemia and ambiguous genitalia, 250790 (3)
DCC Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3)
Colorectal cancer, somatic, 114500 (3)
Esophageal carcinoma, somatic, 133239 (3)
Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
DSC3 ?Hypotrichosis and recurrent skin vesicles, 613102 (3)
DSG1 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)
Keratosis palmoplantaris striata I, AD, 148700 (3)
DSG2 Arrhythmogenic right ventricular dysplasia 10, 610193 (3)
Cardiomyopathy, dilated, 1BB, 612877 (3)
DSG4 Hypotrichosis 6, 607903 (3)
ELP2 Mental retardation, autosomal recessive 58, 617270 (3)
EPG5 Vici syndrome, 242840 (3)
FECH Protoporphyria, erythropoietic, 1, 177000 (3)
KDSR Erythrokeratodermia variabilis et progressiva 4, 617526 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NDUFV2 Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
RNF125 Tenorio syndrome, 616260 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SERPINB8 Peeling skin syndrome 5, 617115 (3)
SETBP1 Mental retardation, autosomal dominant 29, 616078 (3)
Schinzel-Giedion midface retraction syndrome, 269150 (3)
SLC14A1 [Blood group, Kidd], 111000 (3)
TAF4B ?Spermatogenic failure 13, 615841 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)
TNFRSF11A {Paget disease of bone 2, early-onset}, 602080 (3)
Osteolysis, familial expansile, 174810 (3)
Osteopetrosis, autosomal recessive 7, 612301 (3)
TUBB6 ?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3)

Genes at Clinical Genomics Database

AFG3L2, ATP8B1, CTDP1, CYB5A, DCC, DSC3, DSG1, DSG2, DSG4, EPG5, FECH, LAMA1, LAMA3, LMAN1, MYO5B, NDUFV2, NPC1, PIEZO2, RNF125, RTTN, SETBP1, SLC14A1, TAF4B, TCF4, TGIF1, TNFRSF11A,
AFG3L2 Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy
CYB5A 46, XY disorder of sex development
Methemoglobinemia, type IV
DCC Mirror movements 1
DSC3 Hypotrichosis and recurrent skin vesicles
DSG1 Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
DSG2 Cardiomyopathy, dilated, 1BB
Arrhythmogenic right ventricular dysplasia, familial, 10
DSG4 Hypotrichosis 6
EPG5 Vici syndrome
FECH Protoporphyria, erythropoietic
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Laryngoonychocutaneous syndrome
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, generalized atrophic benign
LMAN1 Combined factor V and VIII deficiency
MYO5B Diarrhea 2, with microvillus atrophy
NDUFV2 Mitochondrial complex I deficiency
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
RNF125 Tenorio syndrome
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
SETBP1 Mental retardation, autosomal dominant 29
Schinzel-Giedion midface retraction syndrome
SLC14A1 Blood group, Kidd
TAF4B Spermatogenic failure 13
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
TGIF1 Holoprosencephaly 4
TNFRSF11A Familial expansile osteolysis
Paget disease of bone 2, early-onset
Osteopetrosis, autosomal recessive 7

Genes at HGMD

Summary

Number of Variants: 295
Number of Genes: 117

Export to: CSV

ADCYAP1
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 na12878 compound_heterozygous 18 rs8192597
dbSNP Clinvar 		907675 1176.32 G A PASS 1/1 30 SYNONYMOUS_CODING LOW SILENT 0.70208 0.70210 0.34802 None None None None None None ADCYAP1|0.147854671|43.32%

ADNP2
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 na12878 compound_heterozygous 18 rs3744877
dbSNP Clinvar 		77894844 8036.82 G A PASS 0/1 372 SYNONYMOUS_CODING LOW SILENT 0.41873 0.41870 0.38413 None None None None None None ADNP2|0.014262869|77.65%
View na12878 compound_heterozygous 18 rs3744878
dbSNP Clinvar 		77895192 4190.17 G A PASS 0/1 221 SYNONYMOUS_CODING LOW SILENT 0.10963 0.10960 0.14793 None None None None None None ADNP2|0.014262869|77.65%
View na12878 compound_heterozygous 18 rs1064058
dbSNP Clinvar 		77891039 4886.65 T A PASS 0/1 235 SYNONYMOUS_CODING LOW SILENT 0.12500 0.12500 0.18176 None None None None None None ADNP2|0.014262869|77.65%
View na12878 compound_heterozygous 18 rs1064059
dbSNP Clinvar 		77893683 7814.39 A G PASS 0/1 441 SYNONYMOUS_CODING LOW SILENT 0.12480 0.12480 0.18192 None None None None None None ADNP2|0.014262869|77.65%

AFG3L2
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 na12878 compound_heterozygous 18 rs11080572
dbSNP Clinvar 		12351342 4902.95 C T PASS 0/1 237 SYNONYMOUS_CODING LOW SILENT 0.62320 0.62320 0.31386 None None None None None None AFG3L2|0.258891122|30.83%
View na12878 compound_heterozygous 18 rs11553521
dbSNP Clinvar 		12348285 5485.47 T C PASS 0/1 308 SYNONYMOUS_CODING LOW SILENT 0.70986 0.70990 0.22074 None None None None None None AFG3L2|0.258891122|30.83%

ALPK2
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 na12878 compound_heterozygous 18 rs3809983
dbSNP Clinvar 		56202768 11275.0 C A PASS 1/1 277 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33147 0.33150 0.41027 0.13 0.06 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs10469212
dbSNP Clinvar 		56202418 17791.3 T C PASS 1/1 431 SYNONYMOUS_CODING LOW SILENT 0.93051 0.93050 0.06874 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs7236563
dbSNP Clinvar 		56196451 9541.69 C T PASS 1/1 215 SYNONYMOUS_CODING LOW SILENT 0.37300 0.37300 0.47617 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs7240666
dbSNP Clinvar 		56149099 3559.9 T C PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92153 0.92150 0.16754 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3809981
dbSNP Clinvar 		56203120 8129.74 C T PASS 1/1 190 SYNONYMOUS_CODING LOW SILENT 0.32987 0.32990 0.40866 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3809982
dbSNP Clinvar 		56203074 10734.7 G A PASS 1/1 256 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32927 0.32930 0.40855 0.05 0.91 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3826594
dbSNP Clinvar 		56202982 9411.01 A T PASS 1/1 229 SYNONYMOUS_CODING LOW SILENT 0.67292 0.67290 0.31632 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3826593
dbSNP Clinvar 		56204747 10108.8 G A PASS 1/1 244 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79852 0.79850 0.15624 0.97 0.00 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs4940404
dbSNP Clinvar 		56204671 5191.95 A T PASS 1/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40415 0.40420 0.49439 0.12 0.20 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3809970
dbSNP Clinvar 		56204991 10762.0 C T PASS 1/1 248 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40355 0.40360 0.49462 0.10 0.09 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs6566987
dbSNP Clinvar 		56279025 810.05 T G PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94070 0.94070 0.15807 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3809971
dbSNP Clinvar 		56204977 10500.1 C T PASS 1/1 248 SYNONYMOUS_CODING LOW SILENT 0.40415 0.40420 0.49470 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs12103986
dbSNP Clinvar 		56205262 21544.2 A C PASS 1/1 524 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00060 0.40440 0.49408 0.76 0.00 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3809980
dbSNP Clinvar 		56203411 6618.04 G C PASS 1/1 142 SYNONYMOUS_CODING LOW SILENT 0.67153 0.67150 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3809979
dbSNP Clinvar 		56203447 5269.08 A G PASS 1/1 128 SYNONYMOUS_CODING LOW SILENT 0.67173 0.67170 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3809978
dbSNP Clinvar 		56203891 11416.7 G T PASS 1/1 293 SYNONYMOUS_CODING LOW SILENT 0.67173 0.67170 0.31708 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3809976
dbSNP Clinvar 		56204250 7833.81 A C PASS 1/1 189 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67213 0.67210 0.31678 0.53 0.08 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3809977
dbSNP Clinvar 		56203898 11446.0 T G PASS 1/1 277 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67173 0.67170 0.31747 0.05 0.40 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs55910046
dbSNP Clinvar 		56204410 10837.4 C T Indel 1/1 250 SYNONYMOUS_CODING LOW SILENT 0.40435 0.40440 0.43487 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3809972
dbSNP Clinvar 		56204945 10169.1 C G PASS 1/1 203 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40415 0.40420 0.49462 0.34 0.00 None None None None None None ALPK2|0.002935349|88.74%
View na12878 compound_heterozygous 18 rs3809973
dbSNP Clinvar 		56204932 7742.99 T G PASS 1/1 189 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40435 0.40440 0.49470 0.02 0.52 None None None None None None ALPK2|0.002935349|88.74%

ANKRD12
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 na12878 compound_heterozygous 18 rs4798791
dbSNP Clinvar 		9255982 1108.42 A G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61342 0.61340 0.45472 0.07 0.22 None None None None None None ANKRD12|0.456435861|17.86%
View na12878 compound_heterozygous 18 rs34996750
dbSNP Clinvar 		9256258 4130.86 T C PASS 0/1 186 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01338 0.01338 0.02089 0.75 0.00 None None None None None None ANKRD12|0.456435861|17.86%

AQP4
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 na12878 compound_heterozygous 18 rs35248760
dbSNP Clinvar 		24442392 4486.59 C A PASS 1/1 111 SYNONYMOUS_CODING LOW SILENT 0.04413 0.04413 0.09011 None None None None None None AQP4|0.743437489|7.3%

ARHGAP28
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 na12878 compound_heterozygous 18 rs1056408
dbSNP Clinvar 		6912143 1314.78 A C PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72923 0.72920 0.16408 1.00 0.00 None None None None None None ARHGAP28|0.058067092|60.37%
View na12878 compound_heterozygous 18 rs4239328
dbSNP Clinvar 		6889973 8006.97 A G PASS 0/1 462 SYNONYMOUS_CODING LOW SILENT 0.56090 0.56090 0.42934 None None None None None None ARHGAP28|0.058067092|60.37%
View na12878 compound_heterozygous 18 rs1116757
dbSNP Clinvar 		6890434 1692.75 A G PASS 0/1 138 SYNONYMOUS_CODING LOW SILENT 0.56310 0.56310 0.43395 None None None None None None ARHGAP28|0.058067092|60.37%

ATP8B1
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 na12878 compound_heterozygous 18 rs319438
dbSNP Clinvar 		55364852 2320.52 A G PASS 1/1 61 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%
View na12878 compound_heterozygous 18 rs319443
dbSNP Clinvar 		55362532 1377.19 T G PASS 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.99261 0.99260 0.01031 None None None None None None ATP8B1|0.161108429|41.4%
View na12878 compound_heterozygous 18 rs222581
dbSNP Clinvar 		55317676 12443.1 C T PASS 1/1 298 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99980 0.99980 0.00123 1.00 0.00 None None None None None None ATP8B1|0.161108429|41.4%

ATP9B
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 na12878 compound_heterozygous 18 rs492657
dbSNP Clinvar 		76870397 2968.11 G A PASS 0/1 175 SYNONYMOUS_CODING LOW SILENT 0.11542 0.11540 0.15416 None None None None None None ATP9B|0.095143963|52.07%
View na12878 compound_heterozygous 18 rs585033
dbSNP Clinvar 		77097360 1790.82 A T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03235 0.03235 0.06735 1.00 0.05 None None None None None None ATP9B|0.095143963|52.07%

BCL2
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 na12878 compound_heterozygous 18 rs1801018
dbSNP Clinvar 		60985879 6462.06 T C PASS 0/1 348 SYNONYMOUS_CODING LOW SILENT 0.24321 0.24320 0.31045 None None None None None None BCL2|0.938364507|2.54%

C18orf8
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 na12878 compound_heterozygous 18 rs1788825
dbSNP Clinvar 		21109250 2693.67 T C PASS 1/1 74 SYNONYMOUS_CODING LOW SILENT 0.83047 0.83050 0.26372 None None None None None None C18orf8|0.098725998|51.41%,NPC1|0.141724211|44.18%
View na12878 compound_heterozygous 18 rs1367083
dbSNP Clinvar 		21100240 6229.76 C T PASS 1/1 150 SYNONYMOUS_CODING LOW SILENT 0.61941 0.61940 0.49785 None None None None None None C18orf8|0.098725998|51.41%,NPC1|0.141724211|44.18%

CABYR
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 na12878 compound_heterozygous 18 rs1049684
dbSNP Clinvar 		21739725 11696.9 T C PASS 1/1 300 None None None 0.47125 0.47120 0.41788 None None None None None None CABYR|0.10325602|50.56%

CBLN2
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 na12878 compound_heterozygous 18 rs7237888
dbSNP Clinvar 		70209321 316.76 C A PASS 1/1 11 SYNONYMOUS_CODING LOW SILENT 0.56310 0.56310 0.24141 None None None None None None CBLN2|0.157579656|41.93%

CCDC102B
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 na12878 compound_heterozygous 18 rs572020
dbSNP Clinvar 		66504459 5586.34 A T PASS 1/1 140 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92093 0.92090 0.07229 0.55 0.01 None None None None None None CCDC102B|0.006657119|83.88%
View na12878 compound_heterozygous 18 rs485613
dbSNP Clinvar 		66504093 8285.98 A C PASS 1/1 202 SYNONYMOUS_CODING LOW SILENT 0.92093 0.92090 0.07538 None None None None None None CCDC102B|0.006657119|83.88%
View na12878 compound_heterozygous 18 rs2187094
dbSNP Clinvar 		66513615 5109.39 A G PASS 1/1 123 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36781 0.36780 0.29602 0.07 0.40 None None None None None None CCDC102B|0.006657119|83.88%

CCDC178
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 na12878 compound_heterozygous 18 rs457896
dbSNP Clinvar 		30804758 2652.39 A C PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16434 0.16430 0.16149 0.00 0.30 None None None None None None CCDC178|0.012849829|78.59%
View na12878 compound_heterozygous 18 rs58448816
dbSNP Clinvar 		30847180 2636.39 C T PASS 0/1 185 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08706 0.08706 0.06765 0.96 0.00 None None None None None None CCDC178|0.012849829|78.59%
View na12878 compound_heterozygous 18 rs466113
dbSNP Clinvar 		30804756 6833.05 C T PASS 1/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99541 0.99540 0.00477 0.01 0.00 None None None None None None CCDC178|0.012849829|78.59%
View na12878 compound_heterozygous 18 rs9965081
dbSNP Clinvar 		30846895 810.08 A T PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93251 0.93250 0.09595 0.98 0.00 None None None None None None CCDC178|0.012849829|78.59%

CD226
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 na12878 compound_heterozygous 18 rs763361
dbSNP Clinvar 		67531642 11448.7 T C PASS 0/1 560 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46945 0.46940 0.45210 0.40 0.00 None None None None None None CD226|0.|85.1%
View na12878 compound_heterozygous 18 rs199937292
dbSNP Clinvar 		67540445 36.23 T C ESPStandard;LowQual 0/1 295 SYNONYMOUS_CODING LOW SILENT None None None None None None CD226|0.|85.1%

CDH2
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 na12878 compound_heterozygous 18 rs1041985
dbSNP Clinvar 		25543387 1818.54 G A PASS 0/1 104 SYNONYMOUS_CODING LOW SILENT 0.32748 0.32750 0.26718 None None None None None None CDH2|0.998144482|0.55%
View na12878 compound_heterozygous 18 rs1220144
dbSNP Clinvar 		25565082 6841.11 A G PASS 1/1 175 SYNONYMOUS_CODING LOW SILENT 0.99002 0.99000 0.01000 None None None None None None CDH2|0.998144482|0.55%
View na12878 compound_heterozygous 18 rs1628684
dbSNP Clinvar 		25570228 11248.6 G C PASS 1/1 243 SYNONYMOUS_CODING LOW SILENT 0.99361 0.99360 0.00638 None None None None None None CDH2|0.998144482|0.55%

CDH20
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 na12878 compound_heterozygous 18 rs1943330
dbSNP Clinvar 		59174759 6732.35 C A PASS 0/1 362 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05931 0.05931 0.10334 0.09 0.98 None None None None None None CDH20|0.521854874|14.91%
View na12878 compound_heterozygous 18 rs595093
dbSNP Clinvar 		59170304 8643.07 C G PASS 1/1 174 SYNONYMOUS_CODING LOW SILENT 0.99581 0.99580 0.00461 None None None None None None CDH20|0.521854874|14.91%
View na12878 compound_heterozygous 18 rs12964819
dbSNP Clinvar 		59166541 1252.62 C T PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.62220 0.62220 0.34100 None None None None None None CDH20|0.521854874|14.91%

CDH7
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 na12878 compound_heterozygous 18 rs8097752
dbSNP Clinvar 		63489378 11158.2 C T PASS 1/1 263 SYNONYMOUS_CODING LOW SILENT 0.85284 0.85280 0.13917 None None None None None None CDH7|0.157743367|41.9%
View na12878 compound_heterozygous 18 rs2291343
dbSNP Clinvar 		63530016 2295.12 A G PASS 0/1 161 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62959 0.62960 0.41050 0.58 0.03 None None None None None None CDH7|0.157743367|41.9%
View na12878 compound_heterozygous 18 rs2306675
dbSNP Clinvar 		63511176 7403.01 T C PASS 0/1 399 SYNONYMOUS_CODING LOW SILENT 0.18610 0.18610 0.28987 None None None None None None CDH7|0.157743367|41.9%

CELF4
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 na12878 compound_heterozygous 18 rs1443638
dbSNP Clinvar 		34850846 2865.05 G A PASS 1/1 68 SYNONYMOUS_CODING LOW SILENT 0.21546 0.21550 0.30524 None None None None None None CELF4|0.8655122|4.37%

CEP192
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 na12878 compound_heterozygous 18 rs1786263
dbSNP Clinvar 		13116432 6000.55 G T PASS 0/1 303 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77556 0.77560 0.28087 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View na12878 compound_heterozygous 18 rs578208
dbSNP Clinvar 		13068132 1689.86 T C PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74720 0.74720 0.31624 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View na12878 compound_heterozygous 18 rs6505780
dbSNP Clinvar 		13069782 7820.1 C T PASS 0/1 341 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77017 0.77020 0.29148 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View na12878 compound_heterozygous 18 rs474337
dbSNP Clinvar 		13095609 2097.09 T C PASS 0/1 136 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76997 0.77000 0.29133 0.07 0.00 None None None None None None CEP192|0.030811627|69.03%

CIDEA
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 na12878 compound_heterozygous 18 rs11545881
dbSNP Clinvar 		12274104 1661.07 G T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36422 0.36420 0.30594 0.29 0.08 None None None None None None CIDEA|0.01791692|75.33%

CNDP1
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 na12878 compound_heterozygous 18 rs12960862
dbSNP Clinvar 		72234635 6992.45 C T PASS 1/1 168 SYNONYMOUS_CODING LOW SILENT 0.45447 0.45450 0.43449 None None None None None None CNDP1|0.024865105|71.86%
View na12878 compound_heterozygous 18 rs4263028
dbSNP Clinvar 		72228124 4273.8 A G PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98163 0.98160 0.01745 1.00 0.00 None None None None None None CNDP1|0.024865105|71.86%

COLEC12
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 na12878 compound_heterozygous 18 rs2305027
dbSNP Clinvar 		334742 1336.55 C T PASS 0/1 107 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.36761 0.36760 0.42588 0.06 1.00 None None None None None None COLEC12|0.362523137|23.25%
View na12878 compound_heterozygous 18 rs3826628
dbSNP Clinvar 		346821 1931.52 C T PASS 0/1 114 SYNONYMOUS_CODING LOW SILENT 0.23323 0.23320 0.22697 None None None None None None COLEC12|0.362523137|23.25%
View na12878 compound_heterozygous 18 rs2305025
dbSNP Clinvar 		334994 74.6 A G PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62520 0.62520 0.38088 1.00 0.00 None None None None None None COLEC12|0.362523137|23.25%
View na12878 compound_heterozygous 18 rs2305026
dbSNP Clinvar 		334758 3578.67 T C PASS 1/1 95 SYNONYMOUS_CODING LOW SILENT 0.88498 0.88500 0.14363 None None None None None None COLEC12|0.362523137|23.25%

CTDP1
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 na12878 compound_heterozygous 18 rs2279103
dbSNP Clinvar 		77473127 1135.61 C T PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08267 0.08267 0.13132 0.74 0.01 None None None None None None CTDP1|0.016641517|76.13%
View na12878 compound_heterozygous 18 rs17855830
dbSNP Clinvar 		77440128 12.74 T G ESPStandard;LowQual 0/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65535 0.65540 0.91 0.00 None None None None None None CTDP1|0.016641517|76.13%
View na12878 compound_heterozygous 18 rs626169
dbSNP Clinvar 		77513721 2606.74 T C PASS 1/1 74 SYNONYMOUS_CODING LOW SILENT 0.89517 0.89520 0.10357 None None None None None None CTDP1|0.016641517|76.13%

CTIF
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 na12878 compound_heterozygous 18 rs1038308
dbSNP Clinvar 		46284587 521.44 T C PASS 1/1 15 SYNONYMOUS_CODING LOW SILENT 0.85903 0.85900 0.16408 None None None None None None CTIF|0.243907719|32.11%

CXXC1
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 na12878 compound_heterozygous 18 rs7228084
dbSNP Clinvar 		47810351 1997.23 A G PASS 1/1 49 SYNONYMOUS_CODING LOW SILENT 0.71446 0.71450 0.31370 None None None None None None CXXC1|0.180356139|38.99%

CYB5A
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 na12878 compound_heterozygous 18 rs1051236
dbSNP Clinvar 		71959075 5166.07 G A PASS 0/1 268 SYNONYMOUS_CODING LOW SILENT 0.09525 0.09525 0.11095 None None None None None None CYB5A|0.075036645|56.3%
View na12878 compound_heterozygous 18 rs7238987
dbSNP Clinvar 		71928150 8709.54 C T PASS 0/1 399 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.14117 0.14120 0.14970 None None None None None None CYB5A|0.075036645|56.3%

DCC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 18 rs9951523
dbSNP Clinvar 		49867224 8959.32 T C PASS 1/1 211 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99581 0.99580 0.01084 0.53 0.00 None None None None None None DCC|0.980899041|1.44%
View na12878 compound_heterozygous 18 rs2229082
dbSNP Clinvar 		50936994 10044.4 T C PASS 1/1 230 SYNONYMOUS_CODING LOW SILENT 0.31030 0.31030 0.43587 None None None None None None DCC|0.980899041|1.44%

DOK6
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 na12878 compound_heterozygous 18 rs8099030
dbSNP Clinvar 		67345034 5068.05 T C PASS 0/1 253 SYNONYMOUS_CODING LOW SILENT 0.79313 0.79310 0.23581 None None None None None None DOK6|0.414097507|19.92%
View na12878 compound_heterozygous 18 rs4426448
dbSNP Clinvar 		67365668 6459.47 A G PASS 0/1 433 SYNONYMOUS_CODING LOW SILENT 0.48502 0.48500 0.45917 None None None None None None DOK6|0.414097507|19.92%

DSC1
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 na12878 compound_heterozygous 18 rs2249810
dbSNP Clinvar 		28734749 973.6 A G PASS 0/1 78 SYNONYMOUS_CODING LOW SILENT 0.47863 0.47860 0.47417 None None None None None None DSC1|0.059580459|60%
View na12878 compound_heterozygous 18 rs17800159
dbSNP Clinvar 		28720147 7724.39 C T PASS 0/1 397 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18630 0.18630 0.09365 0.04 1.00 None None None None None None DSC1|0.059580459|60%

DSC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 18 rs1313586
dbSNP Clinvar 		28586964 2763.7 A G PASS 0/1 194 SYNONYMOUS_CODING LOW SILENT 0.59425 0.59420 0.46948 None None None None None None DSC3|0.270295411|29.87%

DSEL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 compound_heterozygous 18 rs2279269
dbSNP Clinvar 		65179829 3138.88 G A PASS 0/1 201 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43550 0.43550 0.45141 1.00 0.00 None None None None None None DSEL|0.101873683|50.81%
View na12878 compound_heterozygous 18 rs72954698
dbSNP Clinvar 		65178507 2427.26 T C PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00100 0.03 0.58 None None None None None None DSEL|0.101873683|50.81%

DSG1
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 na12878 compound_heterozygous 18 rs12967407
dbSNP Clinvar 		28913599 7724.07 C T PASS 0/1 421 SYNONYMOUS_CODING LOW SILENT 0.32768 0.32770 0.43649 None None None None None None DSG1|0.124796378|46.66%
View na12878 compound_heterozygous 18 rs1426310
dbSNP Clinvar 		28898294 11696.4 A G PASS 0/1 560 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36262 0.36260 0.47993 1.00 0.00 None None None None None None DSG1|0.124796378|46.66%

DSG2
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 na12878 compound_heterozygous 18 rs2230233
dbSNP Clinvar 		29104698 6001.84 C T PASS 0/1 301 SYNONYMOUS_CODING LOW SILENT 0.52656 0.52660 0.49412 None None None None None None DSG2|0.049641303|62.78%
View na12878 compound_heterozygous 18 rs1791235
dbSNP Clinvar 		29126670 9346.57 T C PASS 0/1 425 SYNONYMOUS_CODING LOW SILENT 0.54293 0.54290 0.47309 None None None None None None DSG2|0.049641303|62.78%
View na12878 compound_heterozygous 18 rs2278792
dbSNP Clinvar 		29122799 808.21 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24002 0.24000 0.19729 0.13 0.03 None None None None None None DSG2|0.049641303|62.78%

DSG3
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 na12878 compound_heterozygous 18 rs1380866
dbSNP Clinvar 		29055957 2475.21 A G PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99920 0.99920 0.00185 0.79 0.00 None None None None None None DSG3|0.036205931|67.06%
View na12878 compound_heterozygous 18 rs72925163
dbSNP Clinvar 		29054100 8030.05 G A PASS 0/1 406 SYNONYMOUS_CODING LOW SILENT 0.00679 0.00679 0.01069 None None None None None None DSG3|0.036205931|67.06%
View na12878 compound_heterozygous 18 rs7240789
dbSNP Clinvar 		29038536 4872.41 C T PASS 0/1 228 SYNONYMOUS_CODING LOW SILENT 0.06849 0.06849 0.07581 None None None None None None DSG3|0.036205931|67.06%

DSG4
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 na12878 compound_heterozygous 18 rs7234288
dbSNP Clinvar 		28993501 18083.8 C A PASS 1/1 455 SYNONYMOUS_CODING LOW SILENT 0.74321 0.74320 0.27807 None None None None None None DSG4|0.119999576|47.44%
View na12878 compound_heterozygous 18 rs16959856
dbSNP Clinvar 		28968371 7640.16 G A PASS 1/1 176 SYNONYMOUS_CODING LOW SILENT 0.72065 0.72060 0.30568 None None None None None None DSG4|0.119999576|47.44%