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Genes at Omim

A4GALT, ACO2, APOL1, APOL4, ARSA, BCR, COMT, CSF2RB, CYP2D6, DGCR2, EP300, FBLN1, HPS4, LARGE, MLC1, MYH9, MYO18B, NAGA, NCF4, NEFH, PRODH, RAC2, SCARF2, SCO2, SHANK3, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TNFRSF13C, TRIOBP, TUBGCP6, TXNRD2, TYMP,
A4GALT NOR polyagglutination syndrome, 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2 Infantile cerebellar-retinal degeneration, 614559 (3)
?Optic atrophy 9, 616289 (3)
APOL1 {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
{End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
APOL4 {Schizophrenia}, 181500 (1)
ARSA Metachromatic leukodystrophy, 250100 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DGCR2 DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
MYH9 Deafness, autosomal dominant 17, 603622 (3)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NAGA Kanzaki disease, 609242 (3)
Schindler disease, type I, 609241 (3)
Schindler disease, type III, 609241 (3)
NCF4 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
RAC2 Neutrophil immunodeficiency syndrome, 608203 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Myopia 6, 608908 (3)
SHANK3 {Schizophrenia 15}, 613950 (3)
Phelan-McDermid syndrome, 606232 (3)
SMARCB1 Coffin-Siris syndrome 3, 614608 (3)
{Rhabdoid tumor predisposition syndrome 1}, 609322 (3)
{Schwannomatosis-1, susceptibility to}, 162091 (3)
Rhabdoid tumors, somatic, 609322 (3)
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
SPECC1L Hypertelorism, Teebi type, 145420 (3)
?Facial clefting, oblique, 1, 600251 (3)
Opitz GBBB syndrome, type II, 145410 (3)
TBX1 Conotruncal anomaly face syndrome, 217095 (3)
DiGeorge syndrome, 188400 (3)
Tetralogy of Fallot, 187500 (3)
Velocardiofacial syndrome, 192430 (3)
TCN2 Transcobalamin II deficiency, 275350 (3)
TIMP3 Sorsby fundus dystrophy, 136900 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)
TNFRSF13C Immunodeficiency, common variable, 4, 613494 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2 ?Glucocorticoid deficiency 5, 617825 (3)
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ARSA, BCR, COMT, CSF2RB, CYP2D6, DGCR2, EP300, FBLN1, HPS4, LARGE, MLC1, MYH9, MYO18B, NAGA, NCF4, NEFH, PRODH, RAC2, SCARF2, SCO2, SERPIND1, SHANK3, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TNFRSF13C, TRIOBP, TUBGCP6, TYMP, UPK3A,
A4GALT Blood group, P system
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ARSA Metachromatic leukodystrophy
BCR CML treatment, response to
COMT Medication response, association with
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5
CYP2D6 Drug metabolism, CYP2CD6-related
DGCR2 Schizophrenia
EP300 Rubinstein-Taybi syndrome 2
FBLN1 Synpolydactyly 2
HPS4 Hermansky-Pudlak syndrome 4
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts
MYH9 Sebastian syndrome
May-Hegglin anomaly
Fechtner syndrome
Epstein syndrome
Macrothrombocytopenia and progressive sensorineural deafness
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA Kanzaki disease
Alpha-n-acetylgalactosaminidase deficiency
Schindler disease type I
Schindler disease type III
NCF4 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
PRODH Hyperprolinemia, type I
RAC2 Neutrophil immunodeficiency syndrome
SCARF2 Van den Ende-Gupta syndrome
SCO2 Myopia 6
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
SERPIND1 Heparin cofactor II deficiency
SHANK3 Phelan-McDermid syndrome
Schizophrenia
SMARCB1 Schwannomatosis
Rhabdoid tumor predisposition syndrome
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
SPECC1L Facial clefting, oblique, 1
Opitz GBBB syndrome, type II
TBX1 Conotruncal anomaly face syndrome
Tetralogy of Fallot
TCN2 Transcobalamin II deficiency
TIMP3 Sorsby fundus dystrophy
TMPRSS6 Iron-refractory iron deficiency anemia
TNFRSF13C Immunodeficiency, common variable 4
TRIOBP Deafness, autosomal recessive 28
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPK3A Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 552
Number of Genes: 65

Export to: CSV

A4GALT

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 exome_all 22 rs11541159
dbSNP Clinvar
43089849 0.0 T C PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.35064 0.35060 0.40440 0.26 0.00 None None None None None None A4GALT|0.02220674|73.08%
View exome_all 22 rs9623659
dbSNP Clinvar
43088971 0.0 C T PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.34904 0.34900 0.40420 None None None None None None A4GALT|0.02220674|73.08%
View exome_all 22 rs6002904
dbSNP Clinvar
43089055 0.0 G C PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.34674 None None None None None None A4GALT|0.02220674|73.08%

ACO2

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 exome_all 22 rs1799932
dbSNP Clinvar
41911525 0.0 C T PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.27037 0.27040 0.38375 None None None None None None ACO2|0.657906877|9.8%

ADORA2A

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 exome_all 22 rs5751876
dbSNP Clinvar
24837301 0.0 T C PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.44229 0.44230 0.48193 None None None None None None ADORA2A|0.246666916|31.87%

APOBEC3B

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 exome_all 22 rs5757414
dbSNP Clinvar
39388216 0.0 T G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.23223 0.23220 0.55 0.00 None None None None None None APOBEC3B|0.000325736|99.32%
View exome_all 22 rs5757413
dbSNP Clinvar
39388207 0.0 G A PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.23203 0.23200 0.50 0.00 None None None None None None APOBEC3B|0.000325736|99.32%
View exome_all 22 rs1065184
dbSNP Clinvar
39387558 0.0 C T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.48365 None None None None None None APOBEC3B|0.000325736|99.32%
View exome_all 22 rs5995649
dbSNP Clinvar
39382079 0.0 C A PASS 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.04888 1.00 0.00 None None None None None None APOBEC3B|0.000325736|99.32%
View exome_all 22 rs2076111
dbSNP Clinvar
39381999 0.0 T C PASS 1/1 87 SYNONYMOUS_CODING LOW None None None None None None None APOBEC3B|0.000325736|99.32%
View exome_all 22 rs2076109
dbSNP Clinvar
39381826 0.0 A G PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.64117 0.64120 0.39427 0.77 0.00 None None None None None None APOBEC3B|0.000325736|99.32%

APOBEC3F

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 exome_all 22 rs141173351
dbSNP Clinvar
39441093 0.0 C A PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00354 0.00 1.00 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View exome_all 22 rs2020390
dbSNP Clinvar
39441096 0.0 G T PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.53375 0.53370 0.15 1.00 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View exome_all 22 rs4821862
dbSNP Clinvar
39441203 0.0 C T PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.59345 0.59350 0.46363 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%

APOBEC3G

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 exome_all 22 rs5757465
dbSNP Clinvar
39477123 0.0 T C PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.28455 0.28450 0.31755 None None None None None None APOBEC3G|0.000537592|98.25%

APOBEC3H

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 exome_all 22 rs139300
dbSNP Clinvar
39497509 0.0 A G PASS 1/1 36 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%

APOL1

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 exome_all 22 rs2239785
dbSNP Clinvar
36661330 0.0 G A PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.67812 0.67810 0.34715 0.16 0.89 None None None None None None APOL1|0.000329557|99.31%
View exome_all 22 rs136176
dbSNP Clinvar
36661646 0.0 G A PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.86262 0.86260 0.15101 1.00 0.00 None None None None None None APOL1|0.000329557|99.31%
View exome_all 22 rs136175
dbSNP Clinvar
36661566 0.0 G A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.86422 0.86420 0.15308 0.04 0.00 None None None None None None APOL1|0.000329557|99.31%
View exome_all 22 rs136174
dbSNP Clinvar
36661536 0.0 C A PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.86422 0.86420 0.15324 None None None None None None APOL1|0.000329557|99.31%
View exome_all 22 rs148296684
dbSNP Clinvar
36661354 0.0 C T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.00339 0.00340 0.00046 0.00 1.00 None None None None None None APOL1|0.000329557|99.31%

APOL3

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 exome_all 22 rs132618
dbSNP Clinvar
36537500 0.0 A T PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.36262 0.36260 0.36506 None None None None None None APOL3|0.000202491|99.75%
View exome_all 22 rs132653
dbSNP Clinvar
36556823 0.0 G T PASS 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.78474 0.78470 0.28410 0.31 None None None None None None APOL3|0.000202491|99.75%

APOL4

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 exome_all 22 rs132736
dbSNP Clinvar
36598058 0.0 T C PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.62121 0.62120 0.47593 1.00 0.00 None None None None None None APOL4|0.000586223|97.99%
View exome_all 22 rs80587
dbSNP Clinvar
36598049 0.0 C G PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.62101 0.62100 0.47578 1.00 0.00 None None None None None None APOL4|0.000586223|97.99%
View exome_all 22 rs2007468
dbSNP Clinvar
36591380 0.0 A G PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.70068 0.70070 0.38713 None None None None None None APOL4|0.000586223|97.99%

ARSA

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 exome_all 22 rs2071421
dbSNP Clinvar
51064416 0.0 T C PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.22484 0.22480 0.18228 0.28 0.01 None None None None None None ARSA|0.046995067|63.58%

ARVCF

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 exome_all 22 rs2073748
dbSNP Clinvar
19968971 0.0 G A PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.36002 0.36000 0.34425 0.07 0.00 None None None None None None ARVCF|0.083030294|54.56%
View exome_all 22 rs33992092
dbSNP Clinvar
19969495 0.0 G T PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.02157 0.02157 0.02130 None None None None None None ARVCF|0.083030294|54.56%
View exome_all 22 rs165815
dbSNP Clinvar
19959473 0.0 C T PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.61681 0.61680 0.26496 1.00 0.00 None None None None None None ARVCF|0.083030294|54.56%
View exome_all 22 rs5993890
dbSNP Clinvar
19958829 0.0 G A PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.08926 0.08926 0.07397 None None None None None None ARVCF|0.083030294|54.56%
View exome_all 22 rs2240717
dbSNP Clinvar
19969106 0.0 A G PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.41953 0.41950 0.40522 0.50 0.00 None None None None None None ARVCF|0.083030294|54.56%
View exome_all 22 rs2073747
dbSNP Clinvar
19969075 0.0 A G PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.72145 0.72140 0.19203 None None None None None None ARVCF|0.083030294|54.56%

BCR

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 exome_all 22 rs11558697
dbSNP Clinvar
23655084 0.0 C T PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.11881 0.11880 0.19377 None None None None None None BCR|0.805888971|5.65%
View exome_all 22 rs55715766
dbSNP Clinvar
23656859 0.0 T C PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.00899 0.00899 None None None None None None BCR|0.805888971|5.65%
View exome_all 22 rs5751602
dbSNP Clinvar
23523630 0.0 C A PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.29153 0.29150 0.25578 None None None None None None BCR|0.805888971|5.65%
View exome_all 22 rs2227939
dbSNP Clinvar
23631801 0.0 T C PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.32268 0.32270 0.36883 None None None None None None BCR|0.805888971|5.65%
View exome_all 22 rs140504
dbSNP Clinvar
23627369 0.0 A G PASS 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.79373 0.79370 0.12264 1.00 0.00 None None None None None None BCR|0.805888971|5.65%

CABIN1

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 exome_all 22 rs762273
dbSNP Clinvar
24459438 0.0 T C PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.93231 0.93230 0.04475 None None None None None None CABIN1|0.222656185|34.11%

CELSR1

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 exome_all 22 rs12165943
dbSNP Clinvar
46761497 0.0 C G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.30451 0.30450 0.38219 1.00 0.00 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs1009155
dbSNP Clinvar
46931838 0.0 G A PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.88658 0.88660 0.13939 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs1009154
dbSNP Clinvar
46931793 0.0 G C PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.93990 0.93990 0.08032 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs4823850
dbSNP Clinvar
46931077 0.0 G C PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.88898 0.88900 0.13327 0.03 0.06 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs4823561
dbSNP Clinvar
46929692 0.0 A G PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.95288 0.95290 0.06620 1.00 0.00 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs45604542
dbSNP Clinvar
46794475 0.0 T C PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.01957 0.01957 0.03522 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs6008795
dbSNP Clinvar
46787697 0.0 A G PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.19888 0.19890 0.22455 1.00 0.00 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs6008794
dbSNP Clinvar
46787694 0.0 A G PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.27496 0.27500 0.31298 1.00 0.00 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs4044210
dbSNP Clinvar
46786315 0.0 T C PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.27656 0.27660 0.32531 0.41 0.00 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs34267201
dbSNP Clinvar
46782382 0.0 C T PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.02316 0.02316 0.04627 1.00 0.00 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs6007897
dbSNP Clinvar
46780521 0.0 T C PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.24082 0.24080 0.29779 0.92 0.00 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs35385606
dbSNP Clinvar
46777892 0.0 C T PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.01837 0.01837 0.03415 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs35852431
dbSNP Clinvar
46768811 0.0 G A PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.02636 0.02636 0.04775 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs7285515
dbSNP Clinvar
46763671 0.0 A G PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.22404 0.22400 0.27629 None None None None None None CELSR1|0.033878373|67.81%
View exome_all 22 rs9615351
dbSNP Clinvar
46760481 0.0 C G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.24022 0.24020 0.33716 0.23 0.07 None None None None None None CELSR1|0.033878373|67.81%

CLTCL1

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 exome_all 22 rs1061325
dbSNP Clinvar
19184095 0.0 T C PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.41905 0.08 1.00 None None None None None None CLTCL1|0.022666116|72.86%
View exome_all 22 rs35398725
dbSNP Clinvar
19207491 0.0 T C PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.00619 0.00619 0.00743 0.32 0.94 None None None None None None CLTCL1|0.022666116|72.86%
View exome_all 22 rs698423
dbSNP Clinvar
19197896 0.0 T C PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.84804 0.84800 0.26837 None None None None None None CLTCL1|0.022666116|72.86%
View exome_all 22 rs11386977
dbSNP Clinvar
19189003 0.0 A AC PASS 1/1 90 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%

COMT

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 exome_all 22 rs4680
dbSNP Clinvar
19951271 0.0 G A PASS 0/1 64 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36921 0.36920 0.45148 0.09 0.22 None None None None None None COMT|0.166055932|40.8%
View exome_all 22 rs4633
dbSNP Clinvar
19950235 0.0 C T PASS 0/1 197 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37161 0.37160 0.46009 None None None None None None COMT|0.166055932|40.8%

CSF2RB

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 exome_all 22 rs131840
dbSNP Clinvar
37333794 0.0 A G PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.80232 0.80230 0.23843 None None None None None None CSF2RB|0.002608786|89.46%
View exome_all 22 rs16845
dbSNP Clinvar
37326443 0.0 G C PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.10403 0.10400 0.10780 1.00 0.00 None None None None None None CSF2RB|0.002608786|89.46%

CYP2D6

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 exome_all 22 rs1065852
dbSNP Clinvar
42526694 0.0 G A PASS 0/1 70 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23802 0.23800 0.18853 0.02 0.89 None None None None None None CYP2D6|0.040319287|65.66%
View exome_all 22 rs1135840
dbSNP Clinvar
42522613 0.0 G C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.40116 0.40120 0.40832 0.87 0.03 None None None None None None CYP2D6|0.040319287|65.66%
View exome_all 22 rs1058164
dbSNP Clinvar
42525132 0.0 G C PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.40096 0.40100 0.39288 None None None None None None CYP2D6|0.040319287|65.66%
View exome_all 22 rs1058172
dbSNP Clinvar
42523528 0.0 C T PASS 0/1 211 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01 1.00 None None None None None None CYP2D6|0.040319287|65.66%
View exome_all 22 rs3915951
dbSNP Clinvar
42523636 0.0 C A PASS 0/1 54 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.03 0.41 None None None None None None CYP2D6|0.040319287|65.66%
View exome_all 22 rs16947
dbSNP Clinvar
42523943 0.0 A G PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.64078 0.64080 0.40045 0.44 0.00 None None None None None None CYP2D6|0.040319287|65.66%

CYP2D7P

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 exome_all 22 rs3021082
dbSNP Clinvar
42538508 0.0 A G PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.38778 0.38780 None None None None None None None
View exome_all 22 rs2743458
dbSNP Clinvar
42537271 0.0 T C PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.26198 0.26200 None None None None None None None
View exome_all 22 rs3020732
dbSNP Clinvar
42538876 0.0 A T PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.98542 0.98540 0.15 0.00 None None None None None None None
View exome_all 22 rs56404506
dbSNP Clinvar
42537196 0.0 T C PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.72344 0.72340 None None None None None None None
View exome_all 22 rs149012039
dbSNP Clinvar
42538514 0.0 T TC PASS 0/1 121 FRAME_SHIFT HIGH None 0.38938 0.38940 None None None None None None None
View exome_all 22 rs2743456
dbSNP Clinvar
42536313 0.0 G A PASS 0/1 38 STOP_GAINED HIGH None 0.22983 0.22980 None None None None None None None
View exome_all 22 rs1058167
dbSNP Clinvar
42538029 0.0 A G PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.55332 0.55330 None None None None None None None
View exome_all 22 rs1800754
dbSNP Clinvar
42537597 0.0 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.49621 0.49620 None None None None None None None
View exome_all 22 rs2267448
dbSNP Clinvar
42538618 0.0 A G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.40136 0.40140 0.15 0.00 None None None None None None None
View exome_all 22 rs28367005
dbSNP Clinvar
42537280 0.0 T C PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.06589 0.06589 None None None None None None None
View exome_all 22 rs56023519
dbSNP Clinvar
42538509 0.0 G A PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.38938 0.38940 0.00 0.00 None None None None None None None

DGCR14

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 exome_all 22 rs117976088
dbSNP Clinvar
19124938 0.0 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.00539 0.00539 0.00938 None None None None None None DGCR14|0.102847984|50.63%

DGCR2

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 exome_all 22 rs2072123
dbSNP Clinvar
19026613 0.0 A G PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.43151 0.43150 0.42210 1.00 0.00 None None None None None None DGCR2|0.179066592|39.12%

DGCR8

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 exome_all 22 rs35987994
dbSNP Clinvar
20074006 0.0 A G PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.05052 0.05052 0.04006 0.41 0.00 None None None None None None DGCR8|0.831530192|5.07%

EP300

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 exome_all 22 rs20552
dbSNP Clinvar
41551039 0.0 T A PASS 0/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67392 0.67390 0.41689 None None None None None None EP300|0.997012534|0.67%

FBLN1

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 exome_all 22 rs136730
dbSNP Clinvar
45923827 0.0 A G PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.99960 0.99960 0.00146 1.00 0.00 None None None None None None FBLN1|0.107064259|49.78%
View exome_all 22 rs13268
dbSNP Clinvar
45996298 0.0 A G PASS 0/1 86 None None None 0.00739 0.00739 0.01476 0.04 0.51 None None None None None None FBLN1|0.107064259|49.78%

GGT5

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 exome_all 22 rs2275984
dbSNP Clinvar
24622648 0.0 T C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.30891 0.30890 0.31962 0.24 0.00 None None None None None None GGT5|0.007227637|83.27%
View exome_all 22 rs7288201
dbSNP Clinvar
24621293 0.0 T C PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.01318 0.01318 0.02222 0.23 0.25 None None None None None None GGT5|0.007227637|83.27%

GNB1L

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 exome_all 22 rs2073770
dbSNP Clinvar
19789541 0.0 A C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.20607 0.20610 0.08775 0.55 0.00 None None None None None None GNB1L|0.113554867|48.57%

GSTT2

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 exome_all 22 rs139143959
dbSNP Clinvar
24325182 0.0 G A PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.00399 0.00399 0.00776 0.60 0.03 None None None None None None GSTT2|0.001674282|91.98%
View exome_all 22 rs2301423
dbSNP Clinvar
24325062 0.0 G A PASS 1/1 38 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11546 0.21 0.73 None None None None None None GSTT2|0.001674282|91.98%

HPS4

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 exome_all 22 rs713998
dbSNP Clinvar
26862212 0.0 T C PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.79313 0.79310 0.17946 1.00 0.00 None None None None None None HPS4|0.002818856|89%
View exome_all 22 rs5752330
dbSNP Clinvar
26859942 0.0 C T PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.79313 0.79310 0.17953 0.04 0.60 None None None None None None HPS4|0.002818856|89%
View exome_all 22 rs1894704
dbSNP Clinvar
26853905 0.0 C A PASS 1/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.82728 0.82730 0.13148 0.12 0.66 None None None None None None HPS4|0.002818856|89%
View exome_all 22 rs2014410
dbSNP Clinvar
26860269 0.0 G C PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.35423 0.35420 0.37806 0.50 0.05 None None None None None None HPS4|0.002818856|89%
View exome_all 22 rs1894706
dbSNP Clinvar
26854441 0.0 G A PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.82748 0.82750 0.13109 0.00 0.99 None None None None None None HPS4|0.002818856|89%

IL17REL

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 exome_all 22 rs5771069
dbSNP Clinvar
50435480 0.0 A G PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.60703 0.60700 0.46289 0.30 0.00 None None None None None None IL17REL|0.002683079|89.29%
View exome_all 22 rs9617090
dbSNP Clinvar
50439194 0.0 C T PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.26518 0.26520 0.33816 0.54 0.00 None None None None None None IL17REL|0.002683079|89.29%

LARGE

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 exome_all 22 rs36002910
dbSNP Clinvar
34000460 0.0 G A PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.01438 0.01438 0.02130 None None None None None None LARGE|0.874823317|4.11%
View exome_all 22 rs86487
dbSNP Clinvar
34022284 0.0 G A PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.41294 0.41290 0.37521 None None None None None None LARGE|0.874823317|4.11%

MCHR1

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 exome_all 22 rs133072
dbSNP Clinvar
41075543 0.0 A G PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.66773 0.66770 0.34556 0.94 0.00 None None None None None None MCHR1|0.259675515|30.77%