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+ Genes 169

+ Genes associated with diseases 41

Genes at Omim

ATP7B, ATP8A2, BRCA2, CARS2, CENPJ, CLN5, COG6, COL4A1, COL4A2, DAOA, DIAPH3, EDNRB, ERCC5, EXOSC8, F10, F7, FGF9, FLT3, FREM2, GJA3, GPC6, GRK1, HTR2A, ING1, IRS2, KL, LIG4, MIPEP, PCCA, POLR1D, PROZ, RCBTB1, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SUCLA2, TBC1D4, TGDS, TNFSF11,
ATP7B Wilson disease, 277900 (3)
ATP8A2 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)
BRCA2 Fanconi anemia, complementation group D1, 605724 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
{Breast-ovarian cancer, familial, 2}, 612555 (3)
CARS2 Combined oxidative phosphorylation deficiency 27, 616672 (3)
CENPJ Microcephaly 6, primary, autosomal recessive, 608393 (3)
?Seckel syndrome 4, 613676 (3)
CLN5 Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
COG6 Congenital disorder of glycosylation, type IIl, 614576 (3)
Shaheen syndrome, 615328 (3)
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease with or without ocular anomalies, 175780 (3)
?Retinal arteries, tortuosity of, 180000 (3)
Schizencephaly, 269160 (3)
COL4A2 {Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease 2, 614483 (3)
DAOA {Schizophrenia}, 181500 (2)
DIAPH3 Auditory neuropathy, autosomal dominant, 1, 609129 (3)
EDNRB {Hirschsprung disease, susceptibility to, 2}, 600155 (3)
ABCD syndrome, 600501 (3)
Waardenburg syndrome, type 4A, 277580 (3)
ERCC5 Cerebrooculofacioskeletal syndrome 3, 616570 (3)
Xeroderma pigmentosum, group G, 278780 (3)
Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
EXOSC8 Pontocerebellar hypoplasia, type 1C, 616081 (3)
F10 Factor X deficiency, 227600 (3)
F7 Factor VII deficiency, 227500 (3)
{Myocardial infarction, decreased susceptibility to}, 608446 (3)
FGF9 Multiple synostoses syndrome 3, 612961 (3)
FLT3 Leukemia, acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
FREM2 Fraser syndrome 2, 617666 (3)
GJA3 Cataract 14, multiple types, 601885 (3)
GPC6 Omodysplasia 1, 258315 (3)
GRK1 Oguchi disease-2, 613411 (3)
HTR2A {Major depressive disorder, response to citalopram therapy in}, 608516 (3)
{Obsessive-compulsive disorder, susceptibility to}, 164230 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Seasonal affective disorder, susceptibility to}, 608516 (3)
{Alcohol dependence, susceptibility to}, 103780 (3)
{Anorexia nervosa, susceptibility to}, 606788 (3)
ING1 Squamous cell carcinoma, head and neck, somatic, 275355 (3)
IRS2 {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KL ?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3)
LIG4 {Multiple myeloma, resistance to}, 254500 (3)
LIG4 syndrome, 606593 (3)
MIPEP Combined oxidative phosphorylation deficiency 31, 617228 (3)
PCCA Propionicacidemia, 606054 (3)
POLR1D Treacher Collins syndrome 2, 613717 (3)
PROZ [Protein Z deficiency], 614024 (3)
RCBTB1 Retinal dystrophy with or without extraocular anomalies, 617175 (3)
SACS Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SGCG Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC10A2 Bile acid malabsorption, primary, 613291 (3)
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
SLITRK6 Deafness and myopia, 221200 (3)
SUCLA2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
TBC1D4 {Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)
TGDS Catel-Manzke syndrome, 616145 (3)
TNFSF11 Osteopetrosis, autosomal recessive 2, 259710 (3)

Genes at Clinical Genomics Database

ATP7B, BRCA2, CARS2, CENPJ, CLN5, COG6, COL4A1, COL4A2, EDNRB, ERCC5, EXOSC8, F10, F7, FGF9, FREM2, GJA3, GPC6, GRK1, HTR2A, IFT88, KL, LIG4, PCCA, POLR1D, PROZ, RXFP2, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SUCLA2, TBC1D4, TGDS, TNFSF11,
ATP7B Wilson disease
BRCA2 Breast-ovarian cancer, familial, susceptibility to
Pancreatic cancer, susceptibility to, 2
Glioma susceptibility 3
Fanconi anemia, complementation group D1
Wilms tumor
Medulloblastoma
CARS2 Combined oxidative phosphorylation deficiency 27
CENPJ Seckel syndrome 4
Microcephaly, primary autosomal recessive, 6
CLN5 Ceroid lipofuscinosis, neuronal, 5
COG6 Congenital disorder of glycosylation, type Iil
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with or without ocular anomalies
Anterior segment dysgenesis with cerebral involvement
Porencephaly 1
Retinal artery tortuosity
Schizencephaly
COL4A2 Hemorrhage, intracerebral, susceptibility to
EDNRB Waardenburg syndrome type 4A
ABCD syndrome
Hirschsprung disease, susceptibility to, 2
ERCC5 Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G/Cockayne syndrome
EXOSC8 Pontocerebellar hypoplasia, type 1C
F10 Factor X deficiency
F7 Factor VII deficiency
FGF9 Multiple synostoses syndrome 3
FREM2 Fraser syndrome
GJA3 Cataract 14, multiple types
GPC6 Omodysplasia 1
GRK1 Oguchi disease 2
HTR2A Major depressive disorder, response to citalopram therapy in
Clozapine, response to
IFT88 Ciliopathy, IFT88-related
KL Tumoral calcinosis, hyperphosphatemic
LIG4 LIG4 syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
PCCA Propionic acidemia
POLR1D Treacher Collins syndrome 2
PROZ Protein Z deficiency
RXFP2 Cryptorchidism
SACS Spastic ataxia, Charlevoix-Saguenay type
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC10A2 Bile acid malabsorption, primary
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLITRK6 Deafness and myopia
SUCLA2 Mitochondrial DNA depletion syndrome 5
TBC1D4 Diabetes mellitus, noninsulin-dependent 5
TGDS Catel-Manzke syndrome
TNFSF11 Osteopetrosis, autosomal recessive 2

Genes at HGMD

Summary

Number of Variants: 1232
Number of Genes: 169

Export to: CSV

ABCC4
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1678339
dbSNP Clinvar 		95727780 6206.9 T C PASS 1|1 81 SYNONYMOUS_CODING LOW None 0.88778 0.88780 0.07420 None None None None None None ABCC4|0.142494523|44.07%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs2274406
dbSNP Clinvar 		95858996 1304.16 T C PASS 0|1 58 SYNONYMOUS_CODING LOW None 0.51817 0.51820 0.43911 None None None None None None ABCC4|0.142494523|44.07%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1189466
dbSNP Clinvar 		95726541 8163.9 A G PASS 1|1 117 SYNONYMOUS_CODING LOW None 0.90355 0.90360 0.05467 None None None None None None ABCC4|0.142494523|44.07%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs899494
dbSNP Clinvar 		95861804 3610.13 A G PASS 1|1 53 SYNONYMOUS_CODING LOW None 0.80751 0.80750 0.16977 None None None None None None ABCC4|0.142494523|44.07%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs2274405
dbSNP Clinvar 		95858978 1512.16 T C PASS 0|1 75 SYNONYMOUS_CODING LOW None 0.62600 0.62600 0.33592 None None None None None None ABCC4|0.142494523|44.07%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1751034
dbSNP Clinvar 		95714976 2593.13 C T PASS 1|1 45 SYNONYMOUS_CODING LOW None 0.79433 0.79430 0.20345 None None None None None None ABCC4|0.142494523|44.07%

ADPRHL1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs41306688
dbSNP Clinvar 		114078558 606.16 A C PASS 1|0 44 NON_SYNONYMOUS_CODING MODERATE None 0.01278 0.01278 0.02793 0.00 0.97 None None None None None None ADPRHL1|0.030161961|69.33%

AKAP11
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs75408491
dbSNP Clinvar 		42874690 1092.16 G A PASS 1|0 49 NON_SYNONYMOUS_CODING MODERATE None 0.00759 0.00759 0.00492 0.33 0.02 None None None None None None AKAP11|0.091513313|52.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs75106690
dbSNP Clinvar 		42877257 1248.16 A G PASS 1|0 58 NON_SYNONYMOUS_CODING MODERATE None 0.00759 0.00759 0.00500 0.37 0.00 None None None None None None AKAP11|0.091513313|52.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs114345660
dbSNP Clinvar 		42871281 1517.16 A G PASS 1|0 65 NON_SYNONYMOUS_CODING MODERATE None 0.00759 0.00759 0.00442 0.17 0.05 None None None None None None AKAP11|0.091513313|52.94%

AL136218.1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3764090
dbSNP Clinvar 		50008301 6336.13 A G PASS 1|1 103 SYNONYMOUS_CODING LOW None 0.83167 0.83170 None None None None None None CAB39L|0.342406603|24.66%

ARHGEF7
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs41275846
dbSNP Clinvar 		111932913 1321.16 G A PASS 1|0 50 SYNONYMOUS_CODING LOW None 0.00779 0.00779 0.02038 None None None None None None ARHGEF7|0.333638476|25.2%

ARL11
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3803185
dbSNP Clinvar 		50205025 295.16 T C PASS 1|0 12 NON_SYNONYMOUS_CODING MODERATE None 0.25379 0.25380 0.38925 0.52 0.00 None None None None None None ARL11|0.011853992|79.33%

ATP11A
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs368865
dbSNP Clinvar 		113479820 4708.13 A G PASS 1|1 81 NON_SYNONYMOUS_CODING MODERATE None 0.84225 0.84230 0.20145 1.00 0.00 None None None None None None ATP11A|0.13314168|45.42%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs9549573
dbSNP Clinvar 		113508839 912.92 G C PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.69629 0.69630 0.28261 None None None None None None ATP11A|0.13314168|45.42%

ATP12A
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs12872010
dbSNP Clinvar 		25265271 2832.16 C T PASS 1|0 151 SYNONYMOUS_CODING LOW None 0.05950 0.05950 0.04513 None None None None None None ATP12A|0.195110246|37.26%

ATP4B
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs9285616
dbSNP Clinvar 		114312354 4601.9 T G PASS 1|1 56 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ATP4B|0.020415795|73.96%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs11164142
dbSNP Clinvar 		114309226 4032.9 G A PASS 0|1 101 SYNONYMOUS_CODING LOW None 0.47324 0.47320 0.39028 None None None None None None ATP4B|0.020415795|73.96%

ATP7B
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1801244
dbSNP Clinvar 		52544805 3233.06 C G PASS 0|1 54 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.40522 0.45 0.00 None None None None None None ATP7B|0.044059753|64.5%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1801243
dbSNP Clinvar 		52548140 6481.16 A C PASS 0|1 140 NON_SYNONYMOUS_CODING MODERATE None 0.37620 0.37620 0.40122 0.79 0.01 None None None None None None ATP7B|0.044059753|64.5%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs138427376
dbSNP Clinvar 		52542680 3462.16 A G PASS 1|0 167 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00222 0.07 0.01 None None None None None None ATP7B|0.044059753|64.5%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1801249
dbSNP Clinvar 		52515354 4463.16 A G PASS 0|1 96 NON_SYNONYMOUS_CODING MODERATE None 0.54054 0.54050 0.42244 1.00 0.00 None None None None None None ATP7B|0.044059753|64.5%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1801248
dbSNP Clinvar 		52520435 1611.16 C T PASS 0|1 82 SYNONYMOUS_CODING LOW None 0.01238 0.01238 0.02953 None None None None None None ATP7B|0.044059753|64.5%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs732774
dbSNP Clinvar 		52523808 6555.16 C T PASS 0|1 172 NON_SYNONYMOUS_CODING MODERATE None 0.53095 0.53100 0.42835 1.00 0.00 None None None None None None ATP7B|0.044059753|64.5%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1061472
dbSNP Clinvar 		52524488 11285.2 T C PASS 0|1 249 NON_SYNONYMOUS_CODING MODERATE None 0.50240 0.50240 0.44783 0.07 0.22 None None None None None None ATP7B|0.044059753|64.5%

ATP8A2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs6491088
dbSNP Clinvar 		26273385 7578.9 G C PASS 1|1 79 SYNONYMOUS_CODING LOW None 0.98742 0.98740 0.01018 None None None None None None ATP8A2|0.338221309|24.95%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs6491066
dbSNP Clinvar 		26148966 4454.13 C T PASS 1|1 68 SYNONYMOUS_CODING LOW None 0.53634 0.53630 0.29168 None None None None None None ATP8A2|0.338221309|24.95%

B3GALTL
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1041073
dbSNP Clinvar 		31891746 12894.9 G A PASS 1|1 143 NON_SYNONYMOUS_CODING MODERATE None 0.66673 0.66670 0.34461 0.03 0.19 None None None None None None B3GALTL|0.110722838|49.06%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs4943266
dbSNP Clinvar 		31821992 9879.9 T C PASS 1|1 123 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97544 0.97540 0.03601 None None None None None None B3GALTL|0.110722838|49.06%

BORA
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs9543107
dbSNP Clinvar 		73319236 3751.16 C T PASS 1|0 160 NON_SYNONYMOUS_CODING MODERATE None 0.00799 0.00799 0.01298 0.15 0.01 None None None None None None BORA|0.244606958|32.05%

BRCA2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs206075
dbSNP Clinvar 		32913055 6632.9 A G PASS 1|1 77 SYNONYMOUS_CODING LOW None 0.97404 0.97400 0.02423 None None None None None None BRCA2|0.561492787|13.3%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs169547
dbSNP Clinvar 		32929387 4867.9 T C PASS 1|1 47 NON_SYNONYMOUS_CODING MODERATE None 0.97584 0.97580 0.02230 1.00 0.00 None None None None None None BRCA2|0.561492787|13.3%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs206076
dbSNP Clinvar 		32915005 2601.9 G C PASS 1|1 30 SYNONYMOUS_CODING LOW None 0.00040 0.97360 0.02453 None None None None None None BRCA2|0.561492787|13.3%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs543304
dbSNP Clinvar 		32912299 1739.16 T C PASS 1|1 41 SYNONYMOUS_CODING LOW None 0.16813 0.16810 0.19111 None None None None None None BRCA2|0.561492787|13.3%

C1QTNF9
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs4589405
dbSNP Clinvar 		24895805 792.16 G A PASS 0|1 57 NON_SYNONYMOUS_CODING MODERATE None 0.07927 0.07927 0.08973 0.02 0.94 None None None None None None C1QTNF9|0.007159011|83.32%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3751355
dbSNP Clinvar 		24895393 67.69 A G HARD_TO_VALIDATE;LowQual 0|1 15 SYNONYMOUS_CODING LOW None None None None None None None C1QTNF9|0.007159011|83.32%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3751357
dbSNP Clinvar 		24895559 2141.16 A G PASS 1|0 51 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None C1QTNF9|0.007159011|83.32%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs2862239
dbSNP Clinvar 		24895684 919.16 A G PASS 1|0 22 SYNONYMOUS_CODING LOW None 0.89577 0.89580 0.12392 None None None None None None C1QTNF9|0.007159011|83.32%

C1QTNF9B
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3864971
dbSNP Clinvar 		24465743 5271.9 A G PASS 1|1 66 SYNONYMOUS_CODING LOW None 0.98383 0.98380 0.01517 None None None None None None C1QTNF9B|0.013563559|78.16%

CAB39L
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs8002829
dbSNP Clinvar 		49951142 506.16 T C PASS 1|0 27 SYNONYMOUS_CODING LOW None 0.49581 0.49580 0.41858 None None None None None None CAB39L|0.342406603|24.66%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs8002858
dbSNP Clinvar 		49951193 1953.16 T C PASS 1|0 124 SYNONYMOUS_CODING LOW None 0.49581 0.49580 0.41865 None None None None None None CAB39L|0.342406603|24.66%

CARKD
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs41275126
dbSNP Clinvar 		111290630 554.09 T C PASS 0|1 17 NON_SYNONYMOUS_CODING MODERATE None 0.08546 0.08546 0.11133 0.07 0.01 None None None None None None CARKD|0.007460378|83.11%

CARS2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs436462
dbSNP Clinvar 		111298392 2812.9 A G PASS 0|1 74 SYNONYMOUS_CODING LOW None 0.47424 0.47420 0.41281 None None None None None None CARS2|0.018441874|74.99%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1043886
dbSNP Clinvar 		111293915 4682.9 T G PASS 0|1 117 NON_SYNONYMOUS_CODING MODERATE None 0.08187 0.08187 0.10441 0.49 0.00 None None None None None None CARS2|0.018441874|74.99%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs4628819
dbSNP Clinvar 		111319754 7887.9 T C PASS 1|1 118 SYNONYMOUS_CODING LOW None 0.76238 0.76240 0.22520 None None None None None None CARS2|0.018441874|74.99%

CCDC168
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs6491707
dbSNP Clinvar 		103385015 5223.9 A G PASS 1|1 51 NON_SYNONYMOUS_CODING MODERATE None 0.99581 0.99580 0.00285 0.64 0.00 None None None None None None CCDC168|0.000980876|95.56%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs9300756
dbSNP Clinvar 		103384824 4926.9 G A PASS 1|1 64 NON_SYNONYMOUS_CODING MODERATE None 0.58666 0.58670 0.45881 0.17 0.00 None None None None None None CCDC168|0.000980876|95.56%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs7335290
dbSNP Clinvar 		103385299 9092.9 A C PASS 1|1 112 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.02584 0.99 0.00 None None None None None None CCDC168|0.000980876|95.56%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs7983175
dbSNP Clinvar 		103385798 5194.9 T C PASS 1|1 53 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.02562 1.00 0.00 None None None None None None CCDC168|0.000980876|95.56%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs7982465
dbSNP Clinvar 		103386116 5932.9 C G PASS 1|1 59 NON_SYNONYMOUS_CODING MODERATE None 0.97125 0.97120 0.02650 0.11 0.40 None None None None None None CCDC168|0.000980876|95.56%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs7982670
dbSNP Clinvar 		103386283 4438.9 A G PASS 1|1 54 SYNONYMOUS_CODING LOW None 0.97145 0.97140 0.02584 None None None None None None CCDC168|0.000980876|95.56%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs9300758
dbSNP Clinvar 		103388220 2693.9 A G PASS 1|1 32 NON_SYNONYMOUS_CODING MODERATE None 0.99101 0.99100 0.00854 0.09 0.00 None None None None None None CCDC168|0.000980876|95.56%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs9518825
dbSNP Clinvar 		103388370 1849.92 C T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.17565 0.21 0.93 None None None None None None CCDC168|0.000980876|95.56%

CDC16
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs2296971
dbSNP Clinvar 		115004914 2503.92 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.44429 0.44430 0.44210 None None None None None None CDC16|0.574269029|12.84%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs8809
dbSNP Clinvar 		115030714 1530.92 T C PASS 0/1 68 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.36941 0.36940 0.35422 None None None None None None CDC16|0.574269029|12.84%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs8002514
dbSNP Clinvar 		115002305 1013.92 G A PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.34165 0.34170 0.32816 None None None None None None CDC16|0.574269029|12.84%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs2296970
dbSNP Clinvar 		115004935 2341.92 T C PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.44169 0.44170 0.43934 None None None None None None CDC16|0.574269029|12.84%

CDX2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1805107
dbSNP Clinvar 		28537317 4119.9 G A PASS 1|1 47 NON_SYNONYMOUS_CODING MODERATE None 0.72564 0.72560 0.29187 0.08 0.00 None None None None None None CDX2|0.819268423|5.35%

CENPJ
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3742165
dbSNP Clinvar 		25466955 3894.16 T C PASS 1|1 56 SYNONYMOUS_CODING LOW None 0.48403 0.48400 0.45187 None None None None None None CENPJ|0.084211858|54.37%

CKAP2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs7335867
dbSNP Clinvar 		53035925 6840.9 A G PASS 1|1 93 NON_SYNONYMOUS_CODING MODERATE None 0.99960 0.99960 0.00031 1.00 0.00 None None None None None None CKAP2|0.618697736|11.13%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs7337054
dbSNP Clinvar 		53035783 7429.9 T C PASS 1|1 92 SYNONYMOUS_CODING LOW None 0.99740 0.99740 0.00292 None None None None None None CKAP2|0.618697736|11.13%

CLN5
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs138037471
dbSNP Clinvar 		77566320 1870.16 C G PASS 1|0 110 SYNONYMOUS_CODING LOW None 0.01298 0.01298 0.02260 None None None None None None CLN5|0.079356583|55.32%

CLYBL
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs41281112
dbSNP Clinvar 		100518634 914.16 C T PASS 1|0 30 STOP_GAINED HIGH None 0.02196 0.02196 0.02053 None None None None None None CLYBL|0.43420364|18.99%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3783185
dbSNP Clinvar 		100518580 6228.9 A G PASS 1|1 75 NON_SYNONYMOUS_CODING MODERATE None 0.82508 0.82510 0.23697 0.06 0.34 None None None None None None CLYBL|0.43420364|18.99%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3831038,rs57126726,rs796986882
dbSNP Clinvar 		100517195 4732.88 CTG C PASS 0/1 131 None None None 0.24677 None None None None None None CLYBL|0.43420364|18.99%

COG3
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs2985959
dbSNP Clinvar 		46067593 4262.16 G A PASS 1|1 102 SYNONYMOUS_CODING LOW None 0.36042 0.36040 0.36852 None None None None None None COG3|0.283875936|28.81%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs2985989
dbSNP Clinvar 		46108854 5199.16 G A PASS 1|1 90 SYNONYMOUS_CODING LOW None 0.81370 0.81370 0.21127 None None None None None None COG3|0.283875936|28.81%,ERICH6B|0.000395053|98.98%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3014902
dbSNP Clinvar 		46108853 9021.9 T C PASS 1|1 90 NON_SYNONYMOUS_CODING MODERATE None 0.99820 0.99820 0.00200 1.00 0.00 None None None None None None COG3|0.283875936|28.81%,ERICH6B|0.000395053|98.98%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs2274285
dbSNP Clinvar 		46103935 2021.16 A G PASS 1|1 44 NON_SYNONYMOUS_CODING MODERATE None 0.68191 0.68190 0.33208 1.00 0.00 None None None None None None COG3|0.283875936|28.81%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3014960
dbSNP Clinvar 		46077381 3322.16 G A PASS 1|1 76 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.90336 0.90340 0.09573 None None None None None None COG3|0.283875936|28.81%

COG6
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3812882
dbSNP Clinvar 		40229891 3111.13 G A PASS 1|1 47 NON_SYNONYMOUS_CODING MODERATE None 0.48443 0.48440 0.43809 0.09 0.02 None None None None None None COG6|0.303873453|27.36%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3812883
dbSNP Clinvar 		40229957 4537.13 T A PASS 1|1 76 NON_SYNONYMOUS_CODING MODERATE None 0.48423 0.48420 0.41606 0.80 0.00 None None None None None None COG6|0.303873453|27.36%

COL4A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1133219
dbSNP Clinvar 		110813709 5714.16 G A PASS 1|1 111 SYNONYMOUS_CODING LOW None 0.30791 0.30790 0.35676 None None None None None None COL4A1|0.224151486|33.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3742207
dbSNP Clinvar 		110818598 3693.16 T G PASS 0|1 208 NON_SYNONYMOUS_CODING MODERATE None 0.28834 0.28830 0.32124 0.34 None None None None None None COL4A1|0.224151486|33.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs536174
dbSNP Clinvar 		110839550 5675.9 T G PASS 1|1 61 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs995224
dbSNP Clinvar 		110850842 4146.16 A G PASS 1|1 91 SYNONYMOUS_CODING LOW None 0.20647 0.20650 0.25250 None None None None None None COL4A1|0.224151486|33.94%

COL4A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs439831
dbSNP Clinvar 		111154058 6772.9 T A PASS 1|1 50 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs445348
dbSNP Clinvar 		111158874 5643.9 A G PASS 1|1 64 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs4771683
dbSNP Clinvar 		111156499 3460.9 C T PASS 1|1 52 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs9583500
dbSNP Clinvar 		111121620 2701.16 C T PASS 0|1 76 NON_SYNONYMOUS_CODING MODERATE None 0.19090 0.19090 0.23106 0.03 None None None None None None COL4A2|0.044971251|64.22%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs409858
dbSNP Clinvar 		111154061 6772.9 T C PASS 1|1 51 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs4773199
dbSNP Clinvar 		111155779 1872.92 G A PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.18630 0.18630 0.24198 None None None None None None COL4A2|0.044971251|64.22%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs438758
dbSNP Clinvar 		111155773 6880.9 T C PASS 1|1 57 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs7990383
dbSNP Clinvar 		111111235 1508.16 G A PASS 0|1 33 NON_SYNONYMOUS_CODING MODERATE None 0.50919 0.50920 0.36542 0.25 None None None None None None COL4A2|0.044971251|64.22%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs7990214
dbSNP Clinvar 		111111173 4550.16 G A PASS 0|1 102 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs4238272
dbSNP Clinvar 		111077197 5187.9 G A PASS 1|1 60 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%

CPB2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3742264
dbSNP Clinvar 		46648094 1864.92 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.30731 0.30730 0.34569 0.71 0.00 None None None None None None CPB2|0.106282021|49.92%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs9316179
dbSNP Clinvar 		46641466 2687.92 A G PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.30751 0.30750 0.34553 None None None None None None CPB2|0.106282021|49.92%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs7337140
dbSNP Clinvar 		46641481 3745.16 T C PASS 0|1 94 SYNONYMOUS_CODING LOW None 0.80671 0.80670 0.21529 None None None None None None CPB2|0.106282021|49.92%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs1926447
dbSNP Clinvar 		46629944 3382.16 A G PASS 0|1 79 NON_SYNONYMOUS_CODING MODERATE None 0.78315 0.78310 0.24293 0.76 0.00 None None None None None None CPB2|0.106282021|49.92%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs2296642
dbSNP Clinvar 		46656669 3452.16 A G PASS 0|1 95 SYNONYMOUS_CODING LOW None 0.79872 0.79870 0.22044 None None None None None None CPB2|0.106282021|49.92%

CSNK1A1L
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs9576175
dbSNP Clinvar 		37679268 2158.16 G T PASS 0|1 123 NON_SYNONYMOUS_CODING MODERATE None 0.59685 0.59680 0.48639 1.00 0.00 None None None None None None CSNK1A1L|0.002850099|88.93%

DACH1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs782647326,rs748058171
dbSNP Clinvar 		72440658 746.97 TG... T PASS 1|1 4 CODON_DELETION MODERATE None None None None None None None DACH1|0.996005265|0.75%

DAOA
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs2391191
dbSNP Clinvar 		106119446 1750.16 G A PASS 1|0 106 NON_SYNONYMOUS_CODING MODERATE None 0.36182 0.36180 0.29371 0.00 0.14 None None None None None None DAOA|0.00091047|95.98%

DCLK1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs3748308
dbSNP Clinvar 		36686138 2870.16 T C PASS 1|0 160 SYNONYMOUS_CODING LOW None 0.22105 0.22100 0.25373 None None None None None None DCLK1|0.773439585|6.47%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs2296645
dbSNP Clinvar 		36402426 3132.16 A G PASS 1|1 59 SYNONYMOUS_CODING LOW None 0.33227 0.33230 0.36121 None None None None None None DCLK1|0.773439585|6.47%

DCT
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs755684
dbSNP Clinvar 		95097956 3918.13 C T PASS 1|1 55 None None None 0.62859 0.62860 0.19444 None None None None None None DCT|0.788157609|6.16%

DGKH
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs180870
dbSNP Clinvar 		42793479 2414.9 G A PASS 0|1 55 SYNONYMOUS_CODING LOW None 0.62680 0.62680 0.33969 None None None None None None DGKH|0.240075062|32.44%

DHRS12
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs61729904
dbSNP Clinvar 		52365354 3879.16 G T PASS 1|1 83 NON_SYNONYMOUS_CODING MODERATE None 0.06929 0.06929 0.08096 0.92 0.00 None None None None None None DHRS12|0.00254726|89.58%

DIAPH3
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs36084898
dbSNP Clinvar 		60566644 3602.16 T C PASS 1|0 174 NON_SYNONYMOUS_CODING MODERATE None 0.07428 0.07428 0.06679 0.40 1.00 None None None None None None DIAPH3|0.799618501|5.85%