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+ Genes 145

+ Genes associated with diseases 43

Genes at Omim

AFG3L2, ASXL3, ATP5A1, ATP8B1, BCL2, CCDC11, CTDP1, DCC, DSC3, DSG2, DSG4, ELP2, EPG5, FECH, GREB1L, IER3IP1, KCTD1, KDSR, LAMA1, LAMA3, LMAN1, LOXHD1, MOCOS, MYO5B, NDUFV2, NPC1, NPC1, PIEZO2, PIGN, RAX, RBBP8, RNF125, RTTN, SERPINB7, SERPINB8, SETBP1, SLC14A1, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A, TSHZ1,
AFG3L2 Spastic ataxia 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
ASXL3 Bainbridge-Ropers syndrome, 615485 (3)
ATP5A1 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3)
?Combined oxidative phosphorylation deficiency 22, 616045 (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)
CCDC11 Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (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)
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)
GREB1L Renal hypodysplasia/aplasia 3, 617805 (3)
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
KCTD1 Scalp-ear-nipple syndrome, 181270 (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)
LOXHD1 Deafness, autosomal recessive 77, 613079 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NDUFV2 Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
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)
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
RAX Microphthalmia, isolated 3, 611038 (3)
RBBP8 Jawad syndrome, 251255 (3)
Pancreatic carcinoma, somatic (3)
Seckel syndrome 2, 606744 (3)
RNF125 Tenorio syndrome, 616260 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SERPINB7 Palmoplantar keratoderma, Nagashima type, 615598 (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)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
Bosma arhinia microphthalmia syndrome, 603457 (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)
TSHZ1 Aural atresia, congenital, 607842 (3)

Genes at Clinical Genomics Database

AFG3L2, ASXL3, ATP5A1, ATP8B1, CTDP1, DCC, DSC3, DSG2, DSG4, EPG5, FECH, IER3IP1, LAMA1, LAMA3, LMAN1, LOXHD1, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RAX, RBBP8, RNF125, RTTN, SERPINB7, SETBP1, SLC14A1, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A, TSHZ1,
AFG3L2 Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
ASXL3 Bainbridge-Ropers syndrome
ATP5A1 Combined oxidative phosphorylation deficiency 22
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy
DCC Mirror movements 1
DSC3 Hypotrichosis and recurrent skin vesicles
DSG2 Cardiomyopathy, dilated, 1BB
Arrhythmogenic right ventricular dysplasia, familial, 10
DSG4 Hypotrichosis 6
EPG5 Vici syndrome
FECH Protoporphyria, erythropoietic
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Laryngoonychocutaneous syndrome
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, generalized atrophic benign
LMAN1 Combined factor V and VIII deficiency
LOXHD1 Deafness, autosomal recessive 77
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
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1
RAX Microphthalmia, isolated 3
RBBP8 Seckel syndrome 2
Jawad syndrome
RNF125 Tenorio syndrome
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
SERPINB7 Palmoplantar keratoderma, Nagashima type
SETBP1 Mental retardation, autosomal dominant 29
Schinzel-Giedion midface retraction syndrome
SLC14A1 Blood group, Kidd
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
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
TSHZ1 Aural atresia, congenital

Genes at HGMD

Summary

Number of Variants: 613
Number of Genes: 145

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 fam3 AWI 18 rs2231187
dbSNP Clinvar 		909561 290.01 A G PASS 1/1 31 SYNONYMOUS_CODING LOW None 0.20248 0.20250 0.25727 None None None None None None ADCYAP1|0.147854671|43.32%

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 fam3 AWI 18 rs11553521
dbSNP Clinvar 		12348285 1152.22 T C PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.22074 None None None None None None AFG3L2|0.258891122|30.83%
View fam3 AWI 18 rs11080572
dbSNP Clinvar 		12351342 1205.06 C T PASS 1/1 113 SYNONYMOUS_CODING LOW None 0.62320 0.62320 0.31386 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 fam3 AWI 18 rs9944810
dbSNP Clinvar 		56247600 188.46 C A PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.48283 0.48280 0.44919 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809971
dbSNP Clinvar 		56204977 776.36 C T PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.40415 0.40420 0.49470 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809970
dbSNP Clinvar 		56204991 786.12 C T PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.49462 0.10 0.16 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs12103986
dbSNP Clinvar 		56205262 3663.94 A C PASS 1/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.40440 0.49408 0.76 0.00 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs67925233
dbSNP Clinvar 		56204387 864.81 AC... A PASS 1/1 95 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.40196 0.40200 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs12606191
dbSNP Clinvar 		56246442 235.65 T C PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.37340 0.37340 0.29586 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs9958735
dbSNP Clinvar 		56247180 316.84 T C PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.51018 0.51020 0.47932 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs9956630
dbSNP Clinvar 		56247567 232.14 A G PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.45052 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809978
dbSNP Clinvar 		56203891 1632.33 G T PASS 1/1 153 SYNONYMOUS_CODING LOW None 0.67173 0.67170 0.31708 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs6566987
dbSNP Clinvar 		56279025 339.21 T G PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.94070 0.94070 0.15807 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809979
dbSNP Clinvar 		56203447 2682.92 A G PASS 1/1 168 SYNONYMOUS_CODING LOW None 0.67173 0.67170 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809980
dbSNP Clinvar 		56203411 2666.54 G C PASS 1/1 181 SYNONYMOUS_CODING LOW None 0.67153 0.67150 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809981
dbSNP Clinvar 		56203120 1323.87 C T PASS 1/1 85 SYNONYMOUS_CODING LOW None 0.32987 0.32990 0.40866 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809982
dbSNP Clinvar 		56203074 1350.95 G A PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.32927 0.32930 0.40855 0.05 0.96 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3826594
dbSNP Clinvar 		56202982 473.41 A T PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.67292 0.67290 0.31632 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809983
dbSNP Clinvar 		56202768 580.8 C A PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.33147 0.33150 0.41027 0.13 0.08 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs10469212
dbSNP Clinvar 		56202418 1908.74 T C PASS 1/1 156 SYNONYMOUS_CODING LOW None 0.93051 0.93050 0.06874 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3826593
dbSNP Clinvar 		56204747 1402.54 G A PASS 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.79852 0.79850 0.15624 0.97 0.00 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs4940404
dbSNP Clinvar 		56204671 1531.37 A T PASS 1/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.40415 0.40420 0.49439 0.12 0.16 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809973
dbSNP Clinvar 		56204932 771.34 T G PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.40435 0.40440 0.49470 0.02 0.70 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs7236563
dbSNP Clinvar 		56196451 305.02 C T PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.37300 0.37300 0.47617 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs7240666
dbSNP Clinvar 		56149099 302.13 T C PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.92153 0.92150 0.16754 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809977
dbSNP Clinvar 		56203898 1676.64 T G PASS 1/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.67173 0.67170 0.31747 0.05 0.02 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809976
dbSNP Clinvar 		56204250 1504.19 A C PASS 1/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.67213 0.67210 0.31678 0.53 0.28 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs3809972
dbSNP Clinvar 		56204945 785.0 C G PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.40415 0.40420 0.49462 0.34 0.00 None None None None None None ALPK2|0.002935349|88.74%
View fam3 AWI 18 rs55910046
dbSNP Clinvar 		56204410 940.79 C T PASS 1/1 95 SYNONYMOUS_CODING LOW None 0.40435 0.40440 0.43487 None None None None None None ALPK2|0.002935349|88.74%

ANKRD30B
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 fam3 AWI 18 . 14848820 600.64 CG TG... PASS 1/1 69 FRAME_SHIFT HIGH None None None None None None None ANKRD30B|0.000995671|95.47%
View fam3 AWI 18 rs9675365
dbSNP Clinvar 		14779969 824.42 C G PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.46566 0.46570 0.29 0.55 None None None None None None ANKRD30B|0.000995671|95.47%
View fam3 AWI 18 rs12386087
dbSNP Clinvar 		14852335 580.63 C A PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.96825 0.96830 0.37 0.00 None None None None None None ANKRD30B|0.000995671|95.47%
View fam3 AWI 18 rs3126404
dbSNP Clinvar 		14850375 497.85 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.47244 0.47240 None None None None None None ANKRD30B|0.000995671|95.47%

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 fam3 AWI 18 rs35248760
dbSNP Clinvar 		24442392 1394.94 C A PASS 1/1 92 SYNONYMOUS_CODING LOW None 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 fam3 AWI 18 rs1056408
dbSNP Clinvar 		6912143 298.46 A C PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.72923 0.72920 0.16408 1.00 0.00 None None None None None None ARHGAP28|0.058067092|60.37%

ASXL3
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 fam3 AWI 18 rs2282632
dbSNP Clinvar 		31320229 568.15 A G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.70328 0.70330 0.39929 0.01 None None None None None None ASXL3|0.548869749|13.78%

ATP5A1
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 fam3 AWI 18 rs3753069
dbSNP Clinvar 		43678035 784.27 T C PASS 1/1 88 None None None 0.55052 0.55050 0.00 None None None None None None ATP5A1|0.559577689|13.38%
View fam3 AWI 18 rs113278662
dbSNP Clinvar 		43669618 663.79 T C PASS 0/1 290 SYNONYMOUS_CODING LOW None 0.00998 0.00998 0.00300 None None None None None None ATP5A1|0.559577689|13.38%
View fam3 AWI 18 rs56181324
dbSNP Clinvar 		43678024 156.52 G A PASS 0/1 88 MOTIF[MA0095.1:Yy1] LOW None 0.23882 0.23880 None None None None None None ATP5A1|0.559577689|13.38%

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 fam3 AWI 18 rs319443
dbSNP Clinvar 		55362532 882.48 T G PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.99261 0.99260 0.01031 None None None None None None ATP8B1|0.161108429|41.4%
View fam3 AWI 18 rs319438
dbSNP Clinvar 		55364852 1893.01 A G PASS 1/1 170 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%
View fam3 AWI 18 rs222581
dbSNP Clinvar 		55317676 892.8 C T PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 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 fam3 AWI 18 rs34331564
dbSNP Clinvar 		76873288 115.92 A G PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.06749 0.06749 0.07087 None None None None None None ATP9B|0.095143963|52.07%
View fam3 AWI 18 rs3760541
dbSNP Clinvar 		77067000 183.67 T G PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.40336 0.40340 0.42219 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 fam3 AWI 18 rs1801018
dbSNP Clinvar 		60985879 519.02 T C PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.24321 0.24320 0.31045 None None None None None None BCL2|0.938364507|2.54%

C18orf25
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 fam3 AWI 18 rs34068795,rs397790301
dbSNP Clinvar 		43833701 2152.41 T TCTG PASS 1/1 185 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.69269 0.69270 None None None None None None C18orf25|0.503978181|15.65%

C18orf54
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 fam3 AWI 18 rs1657907
dbSNP Clinvar 		51888169 79.46 G C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.06070 0.06070 0.06966 0.13 0.29 None None None None None None C18orf54|0.085084944|54.16%
View fam3 AWI 18 rs1657904
dbSNP Clinvar 		51887123 228.01 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.06090 0.06090 0.06974 None None None None None None C18orf54|0.085084944|54.16%
View fam3 AWI 18 rs79359715
dbSNP Clinvar 		51888173 85.82 G A PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.02216 0.02216 0.04313 None None None None None None C18orf54|0.085084944|54.16%

C18orf56
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 fam3 AWI 18 rs182344736
dbSNP Clinvar 		658147 825.09 C A PASS 0/1 275 NON_SYNONYMOUS_CODING MODERATE None 0.00399 0.00399 0.00737 0.51 None None None None None None TYMSOS|0.00080118|96.64%,TYMS|0.850689466|4.62%

C18orf63
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 fam3 AWI 18 rs12606060
dbSNP Clinvar 		72021717 1038.42 T C PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.99820 0.99820 1.00 0.00 None None None None None None C18orf63|0.018173124|75.19%

C18orf64
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 fam3 AWI 18 rs12326052
dbSNP Clinvar 		6588865 252.11 T C PASS 0/1 60 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.20088 0.20090 0.77 None None None None None None None

C18orf8
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 fam3 AWI 18 rs1367083
dbSNP Clinvar 		21100240 1251.31 C T PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.61941 0.61940 0.49785 None None None None None None C18orf8|0.098725998|51.41%,NPC1|0.141724211|44.18%
View fam3 AWI 18 rs1788825
dbSNP Clinvar 		21109250 864.98 T C PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.83047 0.83050 0.26372 None None None None None None C18orf8|0.098725998|51.41%,NPC1|0.141724211|44.18%

CABYR
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 fam3 AWI 18 rs745473027
dbSNP Clinvar 		21723082 82.44 A G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.31 0.11 None None None None None None CABYR|0.10325602|50.56%
View fam3 AWI 18 rs1049683
dbSNP Clinvar 		21736933 1615.84 T G PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.85324 0.85320 0.15538 1.00 0.00 None None None None None None CABYR|0.10325602|50.56%

CCDC102B
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 fam3 AWI 18 rs637051
dbSNP Clinvar 		66504351 1618.53 G A PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.20627 0.20630 0.34664 None None None None None None CCDC102B|0.006657119|83.88%
View fam3 AWI 18 rs572020
dbSNP Clinvar 		66504459 952.22 A T PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.07229 0.55 0.00 None None None None None None CCDC102B|0.006657119|83.88%
View fam3 AWI 18 rs485613
dbSNP Clinvar 		66504093 772.2 A C PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.92093 0.92090 0.07538 None None None None None None CCDC102B|0.006657119|83.88%
View fam3 AWI 18 rs2187094
dbSNP Clinvar 		66513615 499.56 A G PASS 0/1 226 NON_SYNONYMOUS_CODING MODERATE None 0.36781 0.36780 0.29602 0.07 0.16 None None None None None None CCDC102B|0.006657119|83.88%

CCDC11
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 fam3 AWI 18 rs35193847
dbSNP Clinvar 		47777244 1347.19 C T PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.19349 0.19350 0.30506 0.04 0.19 None None None None None None CFAP53|0.02234551|72.99%

CCDC178
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 fam3 AWI 18 rs9965081
dbSNP Clinvar 		30846895 770.76 A T PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.93251 0.93250 0.09595 0.98 0.00 None None None None None None CCDC178|0.012849829|78.59%
View fam3 AWI 18 rs466113
dbSNP Clinvar 		30804756 881.93 C T PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.99541 0.99540 0.00477 0.01 0.03 None None None None None None CCDC178|0.012849829|78.59%

CD226
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 fam3 AWI 18 rs72481819
dbSNP Clinvar 		67534632 158.84 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.02196 0.02196 0.04905 None None None None None None CD226|0.|85.1%
View fam3 AWI 18 rs763361
dbSNP Clinvar 		67531642 1253.91 T C PASS 1/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.46945 0.46940 0.45210 0.40 0.01 None None None None None None CD226|0.|85.1%

CDH19
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 fam3 AWI 18 rs1055335
dbSNP Clinvar 		64176365 394.02 G T PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.25240 0.25240 0.29140 None None None None None None CDH19|0.03445316|67.64%

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 fam3 AWI 18 rs1220144
dbSNP Clinvar 		25565082 989.27 A G PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.99002 0.99000 0.01000 None None None None None None CDH2|0.998144482|0.55%
View fam3 AWI 18 rs1628684
dbSNP Clinvar 		25570228 2065.21 G C PASS 1/1 175 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00638 None None None None None None CDH2|0.998144482|0.55%

CDH20
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 fam3 AWI 18 rs595093
dbSNP Clinvar 		59170304 968.65 C G PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.99581 0.99580 0.00461 None None None None None None CDH20|0.521854874|14.91%
View fam3 AWI 18 rs12964819
dbSNP Clinvar 		59166541 1271.67 C T PASS 1/1 144 SYNONYMOUS_CODING LOW None 0.62220 0.62220 0.34100 None None None None None None CDH20|0.521854874|14.91%
View fam3 AWI 18 rs1943330
dbSNP Clinvar 		59174759 131.02 C A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.05931 0.05931 0.10334 0.09 0.99 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 fam3 AWI 18 rs2291343
dbSNP Clinvar 		63530016 243.17 A G PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.62959 0.62960 0.41050 0.58 0.05 None None None None None None CDH7|0.157743367|41.9%
View fam3 AWI 18 rs8097752
dbSNP Clinvar 		63489378 412.41 C T PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.85284 0.85280 0.13917 3.19 0.01 0.14173 T None None None None CDH7|0.157743367|41.9%

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 fam3 AWI 18 rs578208
dbSNP Clinvar 		13068132 314.94 T C PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.74720 0.74720 0.31624 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View fam3 AWI 18 rs474337
dbSNP Clinvar 		13095609 366.47 T C PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.76997 0.77000 0.29133 0.07 0.00 None None None None None None CEP192|0.030811627|69.03%
View fam3 AWI 18 rs1786263
dbSNP Clinvar 		13116432 46.05 G T PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.77556 0.77560 0.28087 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View fam3 AWI 18 rs6505780
dbSNP Clinvar 		13069782 108.02 C T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.77017 0.77020 0.29148 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View fam3 AWI 18 rs4499304
dbSNP Clinvar 		13001512 114.74 G C PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.43071 0.43070 0.61 0.00 1.14 0.01 0.23031 T None None None None CEP192|0.030811627|69.03%

CIDEA
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 fam3 AWI 18 rs11545881
dbSNP Clinvar 		12274104 310.81 G T PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.36422 0.36420 0.30594 0.29 0.15 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 fam3 AWI 18 rs4263028
dbSNP Clinvar 		72228124 817.66 A G PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.98163 0.98160 0.01745 1.00 0.00 None None None None None None CNDP1|0.024865105|71.86%
View fam3 AWI 18 rs11151964
dbSNP Clinvar 		72201918 694.17 G A PASS 0/1 268 NON_SYNONYMOUS_CODING MODERATE None 0.11382 0.11380 0.12917 0.44 0.00 None None None None None None CNDP1|0.024865105|71.86%
View fam3 AWI 18 rs10663835,rs60017744
dbSNP Clinvar 		72223591 1531.44 G GT... PASS 0/1 187 CODON_INSERTION MODERATE None None None None None None None CNDP1|0.024865105|71.86%

CNDP2
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 fam3 AWI 18 rs2278159
dbSNP Clinvar 		72178161 208.53 T C PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.20228 0.20230 0.16354 None None None None None None CNDP2|0.038665668|66.22%
View fam3 AWI 18 rs2303463
dbSNP Clinvar 		72168608 363.88 G A PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.19683 None None None None None None CNDP2|0.038665668|66.22%
View fam3 AWI 18 rs2278161
dbSNP Clinvar 		72176083 138.39 T C PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.21586 0.21590 0.18761 0.02 0.52 None None None None None None CNDP2|0.038665668|66.22%

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 fam3 AWI 18 rs3826628
dbSNP Clinvar 		346821 1516.23 C T PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.23323 0.23320 0.22697 None None None None None None COLEC12|0.362523137|23.25%
View fam3 AWI 18 rs2305026
dbSNP Clinvar 		334758 1784.79 T C PASS 1/1 161 SYNONYMOUS_CODING LOW None 0.88498 0.88500 0.14363 None None None None None None COLEC12|0.362523137|23.25%
View fam3 AWI 18 rs34395012
dbSNP Clinvar 		357443 94.31 C G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.00579 0.00579 0.02084 0.25 0.86 3.79 None None None None None None COLEC12|0.362523137|23.25%

CTAGE1
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 fam3 AWI 18 rs9946136
dbSNP Clinvar 		19995731 125.96 T C PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.18710 0.18710 0.23979 0.07 0.00 None None None None None None CTAGE1|0.001673826|91.99%
View fam3 AWI 18 rs9946145
dbSNP Clinvar 		19995753 392.41 T C PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.68550 0.68550 0.26563 None None None None None None CTAGE1|0.001673826|91.99%

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 fam3 AWI 18 rs626169
dbSNP Clinvar 		77513721 1066.99 T C PASS 1/1 98 SYNONYMOUS_CODING LOW None 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 fam3 AWI 18 rs1038308
dbSNP Clinvar 		46284587 1495.29 T C PASS 1/1 101 SYNONYMOUS_CODING LOW None 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 fam3 AWI 18 rs7228084
dbSNP Clinvar 		47810351 1009.16 A G PASS 1/1 85 SYNONYMOUS_CODING LOW None 0.71446 0.71450 0.31370 None None None None None None CXXC1|0.180356139|38.99%

DCC
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 fam3 AWI 18 rs2229080
dbSNP Clinvar 		50432602 772.06 C G PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.47744 0.47740 0.35937 0.07 0.06 None None None None None None DCC|0.980899041|1.44%
View fam3 AWI 18 rs9951523
dbSNP Clinvar 		49867224 1405.88 T C PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.99581 0.99580 0.01084 0.53 0.00 None None None None None None DCC|0.980899041|1.44%

DLGAP1
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 fam3 AWI 18 rs56017170
dbSNP Clinvar 		3581966 296.53 G A PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.12300 0.12300 0.19814 None None None None None None DLGAP1|0.732447726|7.58%

DOK6
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 fam3 AWI 18 rs4426448
dbSNP Clinvar 		67365668 400.07 A G PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.48502 0.48500 0.45917 None None None None None None DOK6|0.414097507|19.92%
View fam3 AWI 18 rs8099030
dbSNP Clinvar 		67345034 615.95 T C PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.79313 0.79310 0.23581 None None None None None None DOK6|0.414097507|19.92%

DSC1
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 fam3 AWI 18 rs2577074
dbSNP Clinvar 		28722103 268.8 T C PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.34465 0.34460 0.26003 None None None None None None DSC1|0.059580459|60%
View fam3 AWI 18 rs17800159
dbSNP Clinvar 		28720147 236.73 C T PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.18630 0.18630 0.09365 0.04 1.00 None None None None None None DSC1|0.059580459|60%