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Genes at Omim

ACADS, ACTN4, ADA, ADCK3, AK2, APC, AQP2, ARSB, ASPA, BARD1, CHI3L1, COMT, CRYBA4, CYP11B2, CYP2B6, CYP2D6, DNM1, DOCK2, DPP6, EGFR, EPHX2, FAN1, FDFT1, FGF20, GBE1, GNAI3, HAAO, IGHMBP2, ISG15, LRP6, MAP3K8, NCF2, NQO1, PCK1, PCSK9, PLA2G7, PNKP, PNP, PNPT1, PPP2R1A, PSAT1, RIPK1, SCN5A, SUFU, TBP, TIRAP, TLR3, WARS,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
AK2 Reticular dysgenesis, 267500 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
ASPA Canavan disease, 271900 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4 Cataract 23, 610425 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DNM1 Epileptic encephalopathy, early infantile, 31, 616346 (3)
DOCK2 Immunodeficiency 40, 616433 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGF20 ?Renal hypodysplasia/aplasia 2, 615721 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GNAI3 Auriculocondylar syndrome 1, 602483 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
ISG15 Immunodeficiency 38, 616126 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NQO1 {Leukemia, post-chemotherapy, susceptibility to} (3)
{Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PLA2G7 Platelet-activating factor acetylhydrolase deficiency, 614278 (3)
{Asthma, susceptibility to}, 600807 (3)
{Atopy, susceptibility to}, 147050 (3)
PNKP Ataxia-oculomotor apraxia 4, 616267 (3)
Microcephaly, seizures, and developmental delay, 613402 (3)
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
SCN5A Atrial fibrillation, familial, 10, 614022 (3)
Brugada syndrome 1, 601144 (3)
Cardiomyopathy, dilated, 1E, 601154 (3)
Heart block, nonprogressive, 113900 (3)
Heart block, progressive, type IA, 113900 (3)
Long QT syndrome-3, 603830 (3)
{Sudden infant death syndrome, susceptibility to}, 272120 (3)
Sick sinus syndrome 1, 608567 (3)
Ventricular fibrillation, familial, 1, 603829 (3)
SUFU Basal cell nevus syndrome, 109400 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
Joubert syndrome 32, 617757 (3)
Medulloblastoma, desmoplastic, 155255 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TIRAP {Malaria, protection against}, 611162 (3)
{Pneumococcal disease, invasive, protection against}, 610799 (3)
{Tuberculosis, protection against}, 607948 (3)
{Bacteremia, protection against}, 614382 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)

Genes at Clinical Genomics Database

ACADS, ACTN4, ADA, ADCK3, AK2, APC, AQP2, ARSB, ASPA, BARD1, COMT, CRYBA4, CYP11B2, CYP2B6, CYP2D6, DNM1, DOCK2, DPP6, EGFR, FAN1, FGF20, GBE1, GNAI3, IGHMBP2, ISG15, LRP6, NCF2, PCSK9, PLA2G7, PNKP, PNP, PNPT1, PPP2R1A, PSAT1, SCN5A, SUFU, TBP, TLR3,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACTN4 Focal segmental glomerulosclerosis 1
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
AK2 Reticular dysgenesis
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
AQP2 Diabetes insipidus, nephrogenic, autosomal
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ASPA Aspartoacylase deficiency (Canavan disease)
BARD1 Breast cancer, susceptibility to
COMT Medication response, association with
CRYBA4 Cataract 23
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP2B6 Efavirenz, poor metabolism of
CYP2D6 Drug metabolism, CYP2CD6-related
DNM1 Epileptic encephalopathy, early infantile 31
DOCK2 Immunodeficiency 40
DPP6 Ventricular fibrillation, paroxysmal familial, 2
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
FAN1 Interstitial nephritis, karyomegalic
FGF20 Renal hypodysplasia/aplasia 2
GBE1 Glycogen storage disease IV
GNAI3 Auriculocondylar syndrome 1
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
ISG15 Immunodeficiency 38, with basal ganglia calcification
LRP6 Coronary artery disease, autosomal dominant 2
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
PCSK9 Hypercholesterolemia, familial, 3
PLA2G7 Platelet-activating factor acetylhydrolase deficiency
PNKP Ataxia-oculomotor apraxia-4
Epileptic encephalopathy, early infantile, 10
PNP Purine nucleoside phosphorylase deficiency
PNPT1 Deafness, autosomal recessive 70
PPP2R1A Mental retardation, autosomal dominant 36
PSAT1 Phosphoserine aminotransferase deficiency
SCN5A Atrial fibrillation, familial 10
Long QT syndrome 3
Idiopathic ventricular fibrillation
Heart block, progressive, type IA
Heart block, nonprogressive
Sick sinus syndrome 1, autosomal recessive
Cardiomyopathy, dilated, 1E
Brugada syndrome 1
Ventricular fibrillation, familial 1
SUFU Medulloblastoma
Basal cell nevus syndrome
TBP Spinocerebellar ataxia 17
TLR3 Herpes simplex encephalitis, susceptibility to, 2

Genes at HGMD

Summary

Number of Variants: 158
Number of Genes: 127

Export to: CSV

ACACB

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 gg_mutation_report 12 rs2300455
dbSNP Clinvar
109623516 0.0 G A flt 0/1 59 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.15955 0.15950 0.14624 0.04 0.48 None None None None None None ACACB|0.108212697|49.54%
View gg_mutation_report 12 rs11065772
dbSNP Clinvar
109617865 0.0 T C flt 1/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%

ACADS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 12 rs3914
dbSNP Clinvar
121174899 0.0 T C flt 1/1 70 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACAP1

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 gg_mutation_report 17 rs3809828
dbSNP Clinvar
7246851 0.0 C T flt 0/1 53 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05331 0.05331 0.04275 None None None None None None ACAP1|0.086299912|53.89%

ACTN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 19 rs3745859
dbSNP Clinvar
39196745 0.0 C T flt 0/1 171 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%

ADA

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 gg_mutation_report 20 rs11555566
dbSNP Clinvar
43255220 0.0 T C flt 0/1 100 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05272 0.05272 0.06505 0.38 0.03 None None None None None None ADA|0.574821556|12.82%

ADCK3

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 gg_mutation_report 1 rs12593
dbSNP Clinvar
227172290 0.0 C T PASS 0/1 47 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23862 0.23860 0.37367 None None None None None None ADCK3|0.102470418|50.69%
View gg_mutation_report 1 rs3738725
dbSNP Clinvar
227174210 0.0 T C PASS 0/1 65 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%

ADSS

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 gg_mutation_report 1 rs55648210
dbSNP Clinvar
244583585 0.0 T C PASS 0/1 64 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01438 0.01438 0.01954 1.00 0.00 None None None None None None ADSS|0.627296338|10.88%

AIM2

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 gg_mutation_report 1 rs2276405
dbSNP Clinvar
159043196 0.0 C T PASS 0/1 180 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02616 0.02616 0.01346 0.18 0.05 None None None None None None AIM2|0.001128332|94.79%

AK2

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 gg_mutation_report 1 rs80324279
dbSNP Clinvar
33478931 0.0 G C PASS 0/1 750 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01 0.99 None None None None None None AK2|0.52008847|15.01%

AK4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 1 rs567848952
dbSNP Clinvar
65691779 0.0 G A PASS 0/1 371 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00020 0.00020 None None None None None None AK4|0.08011651|55.14%

AKR1C1

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 gg_mutation_report 10 rs1138600
dbSNP Clinvar
5010572 0.0 A G flt 0/1 284 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

ALKBH3

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 gg_mutation_report 11 rs1048928
dbSNP Clinvar
43940644 0.0 G T flt 0/1 110 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.61621 0.61620 0.46456 None None None None None None ALKBH3|0.085956572|53.95%

ALOX15B

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 gg_mutation_report 17 rs61312861
dbSNP Clinvar
7950958 0.0 G A flt 0/1 25 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04133 0.04133 0.05251 None None None None None None ALOX15B|0.008183706|82.49%
View gg_mutation_report 17 rs9898751
dbSNP Clinvar
7950952 0.0 C A PASS 0/1 27 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View gg_mutation_report 17 rs6503070
dbSNP Clinvar
7948175 0.0 C T flt 0/1 144 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 6.72 0.02 0.40915 T None None None None ALOX15B|0.008183706|82.49%

APC

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 gg_mutation_report 5 rs2229992
dbSNP Clinvar
112162854 0.0 T C flt 0/1 207 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%

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 gg_mutation_report 22 rs17496046
dbSNP Clinvar
39482371 0.0 C G flt 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05731 0.05731 0.09296 0.05 1.00 None None None None None None APOBEC3G|0.000537592|98.25%

AQP2

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 gg_mutation_report 12 rs426496
dbSNP Clinvar
50348078 0.0 T C flt 0/1 96 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ARSB

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 gg_mutation_report 5 . 78280860 0.0 T A PASS 0/1 10 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.22 0.01 None None None None None None ARSB|0.08485524|54.24%
View gg_mutation_report 5 rs748200261
dbSNP Clinvar
78280833 0.0 A C PASS 0/1 7 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None ARSB|0.08485524|54.24%

ASPA

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 gg_mutation_report 17 rs12948217
dbSNP Clinvar
3397702 0.0 C T flt 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20367 0.20370 0.28925 3.49 0.00 0.03575 T None None None None SPATA22|0.048389783|63.17%,ASPA|0.191557197|37.65%

BARD1

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 gg_mutation_report 2 rs2070094
dbSNP Clinvar
215632255 0.0 C T PASS 0/1 183 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36621 0.36620 0.28064 0.12 0.01 None None None None None None BARD1|0.230178617|33.35%

CAPN9

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 gg_mutation_report 1 rs2282319
dbSNP Clinvar
230898494 0.0 C T PASS 1/1 82 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33287 0.33290 0.33731 None None None None None None CAPN9|0.040556214|65.59%
View gg_mutation_report 1 rs3828126
dbSNP Clinvar
230903350 0.0 T C PASS 1/1 64 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.22464 0.22460 0.28256 None None None None None None CAPN9|0.040556214|65.59%

CBR3

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 gg_mutation_report 21 rs881711
dbSNP Clinvar
37507745 0.0 C T flt 1/1 83 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%
View gg_mutation_report 21 rs881712
dbSNP Clinvar
37507769 0.0 C T flt 1/1 95 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%

CD180

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 gg_mutation_report 5 rs1697144
dbSNP Clinvar
66480004 0.0 T C flt 1/1 66 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99501 0.99500 0.00008 0.57 0.00 None None None None None None CD180|0.02755401|70.63%

CHI3L1

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 gg_mutation_report 1 rs880633
dbSNP Clinvar
203152801 0.0 T C PASS 1/1 131 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37300 0.37300 0.41442 0.00 0.46 None None None None None None CHI3L1|0.048433283|63.15%

CHI3L2

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 gg_mutation_report 1 rs2494007
dbSNP Clinvar
111783996 0.0 A G PASS 1/1 177 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99940 0.99940 0.00062 None None None None None None CHI3L2|0.012602272|78.81%
View gg_mutation_report 1 rs13721
dbSNP Clinvar
111783982 0.0 C A PASS 0/1 178 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10883 0.19030 0.23297 None None None None None None CHI3L2|0.012602272|78.81%

CHIA

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 gg_mutation_report 1 rs2275253
dbSNP Clinvar
111861841 0.0 A G PASS 0/1 87 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.65915 0.65910 0.27764 0.99 0.00 None None None None None None CHIA|0.03435619|67.66%

COMT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 22 rs4818
dbSNP Clinvar
19951207 0.0 C G flt 1/1 124 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.29693 0.29690 0.32754 None None None None None None COMT|0.166055932|40.8%

CRYBA4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 22 rs5761637
dbSNP Clinvar
27021457 0.0 T C flt 1/1 136 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.92372 0.92370 0.12663 None None None None None None CRYBA4|0.095204311|52.06%

CYP11B2

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 gg_mutation_report 8 rs4538
dbSNP Clinvar
143994702 0.0 G T flt 0/1 53 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.60763 0.60760 0.46585 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

CYP2B6

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 gg_mutation_report 19 rs3211371
dbSNP Clinvar
41522715 0.0 C T flt 0/1 89 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05351 0.05351 0.09088 1.00 0.00 None None None None None None CYP2B6|0.387124666|21.59%

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 gg_mutation_report 22 rs1065852
dbSNP Clinvar
42526694 0.0 G A flt 0/1 114 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 gg_mutation_report 22 rs1058172
dbSNP Clinvar
42523528 0.0 C T flt 0/1 416 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01 1.00 None None None None None None CYP2D6|0.040319287|65.66%
View gg_mutation_report 22 rs28371704
dbSNP Clinvar
42525811 0.0 T C flt 0/1 20 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.06929 0.06929 1.00 0.00 None None None None None None CYP2D6|0.040319287|65.66%

DAO

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 gg_mutation_report 12 rs7980427
dbSNP Clinvar
109281310 0.0 G A flt 0/1 71 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.14637 0.14640 0.15155 None None None None None None DAO|0.124766714|46.67%

DHRS4

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 gg_mutation_report 14 rs12147221
dbSNP Clinvar
24424367 0.0 G A flt 0/1 62 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20088 0.20090 0.22321 None None None None None None DHRS4|0.01129792|79.79%

DNM1

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 gg_mutation_report 9 rs2229917
dbSNP Clinvar
130980937 0.0 G A flt 0/1 78 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10124 0.10120 0.12125 None None None None None None DNM1|0.556141328|13.49%

DOCK2

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 gg_mutation_report 5 rs17647491
dbSNP Clinvar
169483706 0.0 C T flt 0/1 125 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00559 0.00559 0.01284 None None None None None None DOCK2|0.439077488|18.72%

DPP6

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 gg_mutation_report 7 rs3817522
dbSNP Clinvar
154672646 0.0 T C flt 0/1 46 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26498 0.26500 0.25870 None None None None None None DPP6|0.155216903|42.27%
View gg_mutation_report 7 rs56091483
dbSNP Clinvar
154561188 0.0 C T flt 0/1 92 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.09685 0.09685 0.08817 None None None None None None DPP6|0.155216903|42.27%
View gg_mutation_report 7 rs3807218
dbSNP Clinvar
154461112 0.0 A G flt 1/1 52 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79732 0.79730 0.16409 None None None None None None DPP6|0.155216903|42.27%

DPYSL2

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 gg_mutation_report 8 rs327222
dbSNP Clinvar
26481771 0.0 T C flt 1/1 162 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93670 0.93670 0.04006 None None None None None None DPYSL2|0.481859756|16.66%

DUSP12

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 gg_mutation_report 1 rs1063178
dbSNP Clinvar
161721707 0.0 C T PASS 1/1 108 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36002 0.36000 0.35399 None None None None None None DUSP12|0.090238655|53.19%

ECHDC3

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 gg_mutation_report 10 rs7899215
dbSNP Clinvar
11797436 0.0 T C flt 1/1 431 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93131 0.93130 0.06366 None None None None None None ECHDC3|0.029496468|69.61%
View gg_mutation_report 10 rs10906011
dbSNP Clinvar
11805357 0.0 G A flt 1/1 33 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51578 0.51580 0.45548 None None None None None None ECHDC3|0.029496468|69.61%

EGFR

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 gg_mutation_report 7 rs1050171
dbSNP Clinvar
55249063 0.0 G A flt 0/1 60 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43271 0.43270 0.45756 None None None None None None EGFR|0.999639222|0.3%

ENPP4

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 gg_mutation_report 6 rs7451713
dbSNP Clinvar
46107752 0.0 C G flt 0/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.45168 0.45170 0.43957 0.12 0.01 None None None None None None ENPP4|0.141883971|44.16%

EPHB3

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 gg_mutation_report 3 rs13069661
dbSNP Clinvar
184289152 0.0 A G flt 0/1 275 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21146 0.21150 0.18776 None None None None None None EIF2B5|0.736636231|7.47%,EPHB3|0.920048428|2.98%

EPHX2

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 gg_mutation_report 8 rs751141
dbSNP Clinvar
27373865 0.0 G A PASS 0/1 337 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12959 0.12960 0.10218 0.03 0.75 None None None None None None EPHX2|0.350156856|24.1%
View gg_mutation_report 8 rs41507953
dbSNP Clinvar
27358505 0.0 A G flt 0/1 63 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10064 0.10060 0.14255 1.00 0.00 None None None None None None EPHX2|0.350156856|24.1%
View gg_mutation_report 8 rs13439459
dbSNP Clinvar
27394366 0.0 C T flt 0/1 112 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.06270 0.06270 0.09480 None None None None None None EPHX2|0.350156856|24.1%

ERAP1

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 gg_mutation_report 5 rs17482078
dbSNP Clinvar
96118866 0.0 C T flt 1/1 206 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10064 0.10060 0.16792 0.04 0.18 None None None None None None ERAP1|0.109230521|49.33%
View gg_mutation_report 5 rs30187
dbSNP Clinvar
96124330 0.0 T C flt 1/1 226 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59625 0.59620 0.37244 0.05 0.50 None None None None None None ERAP1|0.109230521|49.33%

ERAP2

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 gg_mutation_report 5 rs2549782
dbSNP Clinvar
96231000 0.0 G T flt 0/1 257 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.55272 0.55270 0.45902 1.00 0.00 None None None None None None ERAP2|0.036210068|67.06%

ESRRA

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 gg_mutation_report 11 rs759464632
dbSNP Clinvar
64083295 0.0 CGGG C PASS 0/1 151 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02749 None None None None None None ESRRA|0.285985685|28.66%
View gg_mutation_report 11 rs80310817
dbSNP Clinvar
64083331 0.0 C T PASS 0/1 299 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02 0.27 None None None None None None ESRRA|0.285985685|28.66%

FAN1

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 gg_mutation_report 15 rs2955795
dbSNP Clinvar
31229420 0.0 T C flt 0/1 76 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.45707 0.45710 0.34820 None None None None None None FAN1|0.004030595|86.96%

FDFT1

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 gg_mutation_report 8 rs904011
dbSNP Clinvar
11683653 0.0 T C flt 1/1 177 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.97504 0.97500 0.02630 None None None None None None FDFT1|0.104063444|50.39%

FGF20

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 gg_mutation_report 8 . 16859282 0.0 C A flt 0/1 15 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.99 None None None None None None FGF20|0.415965664|19.8%

GALK2

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 gg_mutation_report 15 rs1055254
dbSNP Clinvar
49620200 0.0 C T flt 1/1 201 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20208 0.20210 0.23070 None None None None None None GALK2|0.291513443|28.26%,FAM227B|0.007909301|82.68%

GAPDH

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 gg_mutation_report 12 rs1065691
dbSNP Clinvar
6646320 0.0 T C flt 0/1 37 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.40495 0.40460 0.29471 None None None None None None GAPDH|0.99999903|0.02%
View gg_mutation_report 12 rs1803621
dbSNP Clinvar
6647109 0.0 T C flt 0/1 92 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.41474 0.41470 0.29287 None None None None None None GAPDH|0.99999903|0.02%

GBE1

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 gg_mutation_report 3 rs2229519
dbSNP Clinvar
81698130 0.0 T C flt 0/1 105 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.32149 0.32150 0.29322 0.00 0.07 None None None None None None GBE1|0.676333713|9.2%

GBP1

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 gg_mutation_report 1 rs774147151
dbSNP Clinvar
89521851 0.0 G A PASS 0/1 314 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.14 0.01 None None None None None None GBP1|0.021561854|73.42%

GNAI3

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 gg_mutation_report 1 rs2230350
dbSNP Clinvar
110091447 0.0 G A PASS 0/1 146 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01138 0.01138 0.02284 None None None None None None GNAI3|0.812894507|5.51%

GRK6

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 gg_mutation_report 5 rs201683213
dbSNP Clinvar
176863227 0.0 T A flt 0/1 109 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 1.00 0.00 None None None None None None GRK6|0.367429935|22.91%

HAAO

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 gg_mutation_report 2 rs3816183
dbSNP Clinvar
43015719 0.0 T C PASS 0/1 407 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.85963 0.85960 0.20637 1.00 0.00 None None None None None None HAAO|0.143962065|43.87%

HK2

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 gg_mutation_report 2 rs10194657
dbSNP Clinvar
75115108 0.0 A G PASS 1/1 59 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.52416 0.52420 0.42842 None None None None None None HK2|0.435064932|18.94%

HPN

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 gg_mutation_report 19 rs45512696
dbSNP Clinvar
35550878 0.0 C T flt 0/1 74 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.06450 0.06450 0.11858 None None None None None None HPN|0.094787511|52.17%

HSPA2

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 gg_mutation_report 14 rs1063391
dbSNP Clinvar
65008251 0.0 C T flt 0/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.65256 0.65260 0.39935 None None None None None None HSPA2|0.489584561|16.34%

HSPA6

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 gg_mutation_report 1 rs1079109
dbSNP Clinvar
161495040 0.0 C T PASS 0/1 116 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12420 0.12420 0.08957 0.00 1.00 None None None None None None HSPA6|0.031348421|68.86%

IGHMBP2

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 gg_mutation_report 11 rs148157556
dbSNP Clinvar
68696694 0.0 C T flt 0/1 44 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00479 0.00479 0.00493 None None None None None None IGHMBP2|0.010106738|80.78%

IL34

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 gg_mutation_report 16 rs8046424
dbSNP Clinvar
70690989 0.0 G C flt 1/1 69 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.71506 0.71510 0.37235 0.97 0.00 None None None None None None IL34|0.021290333|73.54%

ILK

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 gg_mutation_report 11 rs1043388
dbSNP Clinvar
6629665 0.0 C T flt 0/1 156 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31470 0.31470 0.29498 None None None None None None ILK|0.927031493|2.82%,TAF10|0.251862987|31.38%

ISG15

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 gg_mutation_report 1 rs1921
dbSNP Clinvar
949608 0.0 G A PASS 0/1 44 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33886 0.33890 0.40158 0.38 0.00 None None None None None None ISG15|0.003699962|87.43%

KDM2A

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 gg_mutation_report 11 rs3741189
dbSNP Clinvar
66995603 0.0 T C flt 1/1 362 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.94489 0.94490 0.03814 None None None None None None KDM2A|0.493492224|16.17%

KPNA2

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 gg_mutation_report 17 rs4638
dbSNP Clinvar
66039350 0.0 A G flt 0/1 277 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51857 0.51860 0.35860 None None None None None None KPNA2|0.644125203|10.31%

LCN15

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 gg_mutation_report 9 rs2297723
dbSNP Clinvar
139656706 0.0 A C flt 0/1 25 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73303 0.73300 0.25262 1.00 0.00 None None None None None None LCN15|0.004912621|85.89%

LGALS8

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 gg_mutation_report 1 rs1041935
dbSNP Clinvar
236700857 0.0 C T PASS 1/1 227 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50000 0.50000 0.38167 0.00 0.03 None None None None None None LGALS8|0.03333972|68.01%
View gg_mutation_report 1 rs1126407
dbSNP Clinvar
236700807 0.0 T A PASS 1/1 147 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49980 0.49980 0.38159 1.00 0.01 None None None None None None LGALS8|0.03333972|68.01%

LGR5

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 gg_mutation_report 12 rs1797372
dbSNP Clinvar
71960208 0.0 G A flt 1/1 201 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.87201 0.87200 0.13460 None None None None None None LGR5|0.517354174|15.1%

LRP6

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 gg_mutation_report 12 rs2302685
dbSNP Clinvar
12301898 0.0 C T flt 1/1 171 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.88558 0.88560 0.16000 1.00 0.00 None None None None None None BCL2L14|0.005004666|85.81%,LRP6|0.939860673|2.49%

MAP3K8

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 gg_mutation_report 10 rs1042058
dbSNP Clinvar
30728101 0.0 T C flt 0/1 195 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35284 0.35280 0.45225 None None None None None None MAP3K8|0.216303059|34.87%

MIOX

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 gg_mutation_report 22 rs2232885
dbSNP Clinvar
50928026 0.0 G A flt 0/1 37 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.19748 0.19750 0.19364 None None None None None None MIOX|0.037846234|66.51%

MUS81

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 gg_mutation_report 11 rs630303
dbSNP Clinvar
65631973 0.0 G A flt 1/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.42991 0.42990 0.46922 None None None None None None MUS81|0.069709404|57.54%
View gg_mutation_report 11 rs558114
dbSNP Clinvar
65632262 0.0 G T flt 1/1 27 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.42832 0.42830 0.47014 None None None None None None MUS81|0.069709404|57.54%

NCF2

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 gg_mutation_report 1 rs2274064
dbSNP Clinvar
183542387 0.0 T C PASS 0/1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49161 0.49160 0.43003 0.81 0.00 None None None None None None SMG7|0.512183924|15.29%,NCF2|0.147913497|43.31%

NET1

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 gg_mutation_report 10 rs4567355
dbSNP Clinvar
5495218 0.0 T C flt 1/1 121 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.97664 0.97660 0.02783 None None None None None None NET1|0.100975658|50.99%

NEU2

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 gg_mutation_report 2 rs2233394
dbSNP Clinvar
233899377 0.0 C T PASS 0/1 55 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.18770 0.18770 0.15528 None None None None None None NEU2|0.005389797|85.32%

NLRX1

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 gg_mutation_report 11 rs4245191
dbSNP Clinvar
119052826 0.0 C A flt 0/1 107 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.68830 0.68830 0.42664 1.00 0.84 None None None None None None NLRX1|0.100054639|51.16%

NQO1

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 gg_mutation_report 16 rs1131341
dbSNP Clinvar
69748869 0.0 G A flt 0/1 89 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02137 0.02137 0.03039 0.00 0.78 None None None None None None NQO1|0.407599047|20.33%

NT5M

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 gg_mutation_report 17 . 17207119 0.0 G T flt 0/1 6 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None NT5M|0.064754596|58.7%

PAK4

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 gg_mutation_report 19 . 39664600 0.0 AA A flt 0/1 8 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.54 None None None None None None PAK4|0.096313181|51.87%
View gg_mutation_report 19 rs769009235
dbSNP Clinvar
39664600 0.0 A G PASS 0/1 8 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.54 None None None None None None PAK4|0.096313181|51.87%