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Genes at Omim

ACADS, ADH1C, ALG9, APC, AQP2, ASPA, BTNL2, CA2, CASP12, CASP8, CD207, CLDN16, COL9A2, COMT, CRYBA4, CYP11B2, CYP21A2, CYP2B6, CYP2C9, DPP6, EGFR, EMG1, EP300, EPHX2, FAM58A, FDFT1, GBE1, GP6, HIBCH, HLA-A, HLA-DRB1, HYDIN, IL17RA, KIF7, KISS1, LPIN1, LRP6, MTAP, NTRK1, PCSK9, PLA2G7, PNP, PPT1, PRKDC, PRNP, PSAT1, PTPRF, PUS1, RECQL4, RNASET2, SERPINI1, SLC37A4, SLC46A1, SLX4, TBP, TLR2, TLR3, UMPS, WNK1,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (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)
ASPA Canavan disease, 271900 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CASP12 {Sepsis, susceptibility to} (3)
CASP8 Hepatocellular carcinoma, somatic, 114550 (3)
{Lung cancer, protection against}, 211980 (3)
?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3)
{Breast cancer, protection against}, 114480 (3)
CD207 [?Birbeck granule deficiency], 613393 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
COL9A2 Epiphyseal dysplasia, multiple, 2, 600204 (3)
?Stickler syndrome, type V, 614284 (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)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP2C9 Tolbutamide poor metabolizer (3)
Warfarin sensitivity, 122700 (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)
EMG1 Bowen-Conradi syndrome, 211180 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
FAM58A STAR syndrome, 300707 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IL17RA Immunodeficiency 51, 613953 (3)
KIF7 Acrocallosal syndrome, 200990 (3)
Joubert syndrome 12, 200990 (3)
?Hydrolethalus syndrome 2, 614120 (3)
?Al-Gazali-Bakalinova syndrome, 607131 (3)
KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Medullary thyroid carcinoma, familial, 155240 (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)
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
PPT1 Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PRNP Gerstmann-Straussler disease, 137440 (3)
{Kuru, susceptibility to}, 245300 (3)
Cerebral amyloid angiopathy, PRNP-related, 137440 (3)
Huntington disease-like 1, 603218 (3)
Creutzfeldt-Jakob disease, 123400 (3)
Insomnia, fatal familial, 600072 (3)
Prion disease with protracted course, 606688 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
PTPRF ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RNASET2 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SLX4 Fanconi anemia, complementation group P, 613951 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TLR2 {Leprosy, susceptibility to}, 246300 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
UMPS Orotic aciduria, 258900 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

ACADS, ALG9, APC, AQP2, ASPA, ATP6V1B1, CA2, CASP8, CD207, CLDN16, COL9A2, COMT, CRYBA4, CYP11B2, CYP21A2, CYP2B6, CYP2C9, DPP6, EGFR, EMG1, EP300, FAM58A, GBE1, GP6, HIBCH, HLA-A, IL17RA, KIF7, KISS1, LPIN1, LRP6, MTAP, NTRK1, PARK2, PCSK9, PLA2G7, PLEC, PNP, PPT1, PRKDC, PRNP, PSAT1, PTPRF, PUS1, RECQL4, RNASET2, SERPINI1, SLC37A4, SLC46A1, SLX4, TBP, TLR3, UMPS, WNK1, ZNF480,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ALG9 Congenital disorder of glycosylation, type Il
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
AQP2 Diabetes insipidus, nephrogenic, autosomal
ASPA Aspartoacylase deficiency (Canavan disease)
ATP6V1B1 Renal tubular acidosis with deafness
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CASP8 Caspase 8 defiency
CD207 Birbeck granule deficiency
CLDN16 Hypomagnesemia 3, renal
COL9A2 Stickler syndrome, Type V
COMT Medication response, association with
CRYBA4 Cataract 23
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
CYP2B6 Efavirenz, poor metabolism of
CYP2C9 Drug metabolism, CYP2C9-related
DPP6 Ventricular fibrillation, paroxysmal familial, 2
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
EMG1 Bowen-Conradi syndrome
EP300 Rubinstein-Taybi syndrome 2
FAM58A STAR syndrome
Toe syndactyly, telecanthus, and anogenital and renal malformations
GBE1 Glycogen storage disease IV
GP6 Bleeding disorder, platelet-type, 11
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
HLA-A Drug-induced toxicity, susceptibility to
IL17RA Candiasis, familial, 5
KIF7 Hydrolethalus syndrome 2
Acrocallosal syndrome
Joubert syndrome 12
Al-Gazali-Bakalinova syndrome
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
LPIN1 Myoglobinuria, acute, recurrent, autosomal recessive
LRP6 Coronary artery disease, autosomal dominant 2
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
NTRK1 Insensitivity to pain, congenital, with anhidrosis
PARK2 Parkinson disease 2, autosomal recessive juvenile
PCSK9 Hypercholesterolemia, familial, 3
PLA2G7 Platelet-activating factor acetylhydrolase deficiency
PLEC Muscular dystrophy, limb-girdle, type 2Q
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PNP Purine nucleoside phosphorylase deficiency
PPT1 Ceroid lipofuscinosis, neuronal, 1
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PRNP Spongiform encephalopathy with neuropsychiatric features
Huntington disease-like 1
Gerstmann-Straussler disease
Creutzfeldt-Jakob disease
Insomnia, fatal familial
Dementia, Lewy body
PSAT1 Phosphoserine aminotransferase deficiency
PTPRF Breasts and/or nipples, aplasia or hypoplasia of, 2
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RNASET2 Leukoencephalopathy, cystic, without megalencephaly
SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC46A1 Folate malabsorption, hereditary
SLX4 Fanconi anemia type P
TBP Spinocerebellar ataxia 17
TLR3 Herpes simplex encephalitis, susceptibility to, 2
UMPS Orotic aciduria
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 139
Number of Genes: 121

Export to: CSV

ACADS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 12 rs3914
dbSNP Clinvar
121174899 4186.28 T C PASS 1/1 141 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ADH1C

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 muestra1_s1 4 rs283413
dbSNP Clinvar
100268190 1160.82 A C PASS 1/1 48 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

ALG9

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 muestra1_s1 11 rs10708475
dbSNP Clinvar
111742145 2589.26 CG C PASS 1/1 59 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

AOAH

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 muestra1_s1 7 rs57543920
dbSNP Clinvar
36552790 5356.59 G GT PASS 1/1 152 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%
View muestra1_s1 7 rs59476355
dbSNP Clinvar
36552729 6702.01 A AT PASS 1/1 172 FRAME_SHIFT HIGH None 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%

APC

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 muestra1_s1 5 rs41115
dbSNP Clinvar
112175770 2326.4 G A PASS 1/1 64 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View muestra1_s1 5 rs2229992
dbSNP Clinvar
112162854 627.67 T C PASS 0/1 34 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%

AQP2

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 muestra1_s1 12 rs426496
dbSNP Clinvar
50348078 1503.18 T C PASS 1/1 47 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ASPA

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 muestra1_s1 17 rs12948217
dbSNP Clinvar
3397702 232.15 C T PASS 0/1 37 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%

ATP6V1B1

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 muestra1_s1 2 rs11681642
dbSNP Clinvar
71163086 463.24 T C PASS 0/1 49 START_LOST HIGH None 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None ATP6V1B1|0.123167959|46.96%

BHMT

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 muestra1_s1 5 rs4703772
dbSNP Clinvar
78422035 1158.69 C T PASS 0/1 105 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02256 0.02256 0.00115 None None None None None None DMGDH|0.169846291|40.33%,BHMT|0.106798256|49.84%

BMP2K

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 muestra1_s1 4 . 79697839 246.32 C A PASS 0/1 19 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04 0.99 None None None None None None BMP2K|0.123580091|46.87%

BTNL2

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 muestra1_s1 6 rs60740710,rs370253771
dbSNP Clinvar
32370969 149.11 TG T SB 0/1 9 FRAME_SHIFT HIGH None 0.13419 0.13420 0.09159 None None None None None None BTNL2|0.00846386|82.19%

CA2

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 muestra1_s1 8 rs703
dbSNP Clinvar
86389403 2028.67 T C PASS 0/1 153 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

CASP12

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 muestra1_s1 11 rs497116
dbSNP Clinvar
104763117 3121.15 G A PASS 1/1 104 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CASP8

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 muestra1_s1 2 rs3769824
dbSNP Clinvar
202122956 525.81 T C PASS 0/1 51 START_LOST HIGH None 0.03454 0.03454 0.03279 0.00 None None None None None None CASP8|0.814767746|5.46%

CBR3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 21 rs881712
dbSNP Clinvar
37507769 1576.2 C T PASS 1/1 52 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%
View muestra1_s1 21 rs881711
dbSNP Clinvar
37507745 1783.1 C T PASS 1/1 60 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%

CCHCR1

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 muestra1_s1 6 rs72856718
dbSNP Clinvar
31125257 1677.07 C A PASS 0/1 134 STOP_GAINED HIGH None 0.08127 0.08127 0.07480 None None None None None None CCHCR1|0.032661886|68.3%

CD177

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 muestra1_s1 19 rs201821720
dbSNP Clinvar
43865321 512.89 T A SB 1/1 27 STOP_LOST HIGH None 0.71286 0.71290 None None None None None None CD177|0.000416107|98.86%

CD207

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 muestra1_s1 2 rs11450450,rs397692276
dbSNP Clinvar
71062833 4108.72 G GC PASS 1/1 97 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00025 None None None None None None CD207|0.004253024|86.68%

CHI3L2

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 muestra1_s1 1 rs2494007
dbSNP Clinvar
111783996 668.87 A G PASS 1/1 21 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99940 0.99940 0.00062 None None None None None None CHI3L2|0.012602272|78.81%
View muestra1_s1 1 rs13721
dbSNP Clinvar
111783982 625.13 C T PASS 1/1 20 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10883 0.19030 1.00 0.11 None None None None None None CHI3L2|0.012602272|78.81%

CHIA

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 muestra1_s1 1 rs2275253
dbSNP Clinvar
111861841 966.56 A G PASS 0/1 74 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%

CLDN16

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 muestra1_s1 3 rs368234054
dbSNP Clinvar
190106071 2040.75 AG A PASS 0/1 144 FRAME_SHIFT HIGH None 0.11701 0.11700 None None None None None None CLDN16|0.053365905|61.68%

CLTCL1

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 muestra1_s1 22 rs11386977
dbSNP Clinvar
19189003 3513.07 A AC PASS 1/1 84 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%

CLYBL

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 13 rs41281112
dbSNP Clinvar
100518634 1082.29 C T PASS 0/1 105 STOP_GAINED HIGH None 0.02196 0.02196 0.02053 None None None None None None CLYBL|0.43420364|18.99%

COL9A2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 1 rs12077871
dbSNP Clinvar
40773150 726.07 G A PASS 0/1 73 STOP_GAINED HIGH None 0.06390 0.06390 0.03137 None None None None None None COL9A2|0.155899915|42.16%

COMT

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 muestra1_s1 22 rs6267
dbSNP Clinvar
19950263 3496.42 G T PASS 0/1 283 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01338 0.01338 0.00085 0.01 0.58 None None None None None None COMT|0.166055932|40.8%
View muestra1_s1 22 rs4680
dbSNP Clinvar
19951271 1032.15 G A PASS 0/1 91 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 muestra1_s1 22 rs4633
dbSNP Clinvar
19950235 4127.38 C T PASS 0/1 272 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37161 0.37160 0.46009 None None None None None None COMT|0.166055932|40.8%

COQ5

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 muestra1_s1 12 . 120954370 3.08 C A LowGQX;LowQD;SB 0/1 17 STOP_GAINED+SPLICE_SITE_REGION HIGH None None None None None None None COQ5|0.221289146|34.28%

CRYBA4

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 muestra1_s1 22 rs5761637
dbSNP Clinvar
27021457 4636.77 T C PASS 1/1 151 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 8 rs4538
dbSNP Clinvar
143994702 1357.6 G T PASS 0/1 124 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%
View muestra1_s1 8 rs4539
dbSNP Clinvar
143996539 2289.61 T C PASS 0/1 184 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34645 0.34640 0.37660 0.58 0.03 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

CYP21A2

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 muestra1_s1 6 rs6464
dbSNP Clinvar
32006337 1609.99 C A PASS 0/1 260 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None CYP21A2|0.039907204|65.79%

CYP2B6

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 muestra1_s1 19 rs3745274
dbSNP Clinvar
41512841 559.7 G T PASS 0/1 37 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31570 0.31570 0.29040 0.37 0.01 None None None None None None CYP2B6|0.387124666|21.59%

CYP2C9

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 muestra1_s1 10 rs1799853
dbSNP Clinvar
96702047 648.81 C T PASS 0/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04792 0.04792 0.09554 0.05 0.98 None None None None None None CYP2C9|0.012154792|79.12%

CYP4B1

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 muestra1_s1 1 rs3215983
dbSNP Clinvar
47280746 3744.64 GAT G PASS 0/1 119 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.13538 0.13540 0.11430 None None None None None None CYP4B1|0.038794091|66.17%

DBI

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 muestra1_s1 2 rs3731608
dbSNP Clinvar
120125053 1228.6 C G PASS 0/1 70 STOP_GAINED HIGH None 0.16034 0.16030 None None None None None None DBI|0.035649756|67.26%

DDR1

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 muestra1_s1 6 rs1049622
dbSNP Clinvar
30858857 7077.61 C T PASS 1/1 232 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.41554 0.41550 0.20802 None None None None None None DDR1|0.244168042|32.07%
View muestra1_s1 6 rs2229933
dbSNP Clinvar
30857072 5175.01 G C PASS 1/1 169 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.41534 0.41530 0.20763 None None None None None None DDR1|0.244168042|32.07%

DEFB126

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 muestra1_s1 20 rs11467417,rs386393058
dbSNP Clinvar
126310 1672.19 ACC A PASS 0/1 77 FRAME_SHIFT HIGH None 0.43378 None None None None None None None

DPP6

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 muestra1_s1 7 rs3807218
dbSNP Clinvar
154461112 900.46 A G PASS 1/1 27 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 8 rs327222
dbSNP Clinvar
26481771 5087.55 T C PASS 1/1 165 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93670 0.93670 0.04006 None None None None None None DPYSL2|0.481859756|16.66%

ECI1

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 muestra1_s1 16 . 2301395 8.47 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None ECI1|0.061986927|59.32%

EGFR

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 muestra1_s1 7 rs1050171
dbSNP Clinvar
55249063 1556.93 G A PASS 1/1 51 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43271 0.43270 0.45756 None None None None None None EGFR|0.999639222|0.3%

EMG1

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 muestra1_s1 12 rs60117710
dbSNP Clinvar
7080210 3772.69 A AG PASS 1/1 94 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00395 None None None None None None EMG1|0.122491052|47.03%

EP300

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 muestra1_s1 22 rs20552
dbSNP Clinvar
41551039 2001.58 T A PASS 1/1 64 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67392 0.67390 0.41689 None None None None None None EP300|0.997012534|0.67%

EPHX2

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 muestra1_s1 8 rs751141
dbSNP Clinvar
27373865 759.93 G A PASS 0/1 82 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%

ERAP1

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 muestra1_s1 5 rs30187
dbSNP Clinvar
96124330 499.25 T C PASS 0/1 59 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 5 rs2549782
dbSNP Clinvar
96231000 256.5 G T PASS 0/1 44 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%

FAM58A

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 muestra1_s1 X rs199537978
dbSNP Clinvar
152864477 470.19 G GC PASS 1/1 16 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.04871 None None None None None None FAM58A|0.05294971|61.79%

FAM8A1

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 muestra1_s1 6 rs74444948
dbSNP Clinvar
17602826 184.46 G T PASS 0/1 43 STOP_GAINED HIGH None None None None None None None FAM8A1|0.060762759|59.66%

FDFT1

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 muestra1_s1 8 rs904011
dbSNP Clinvar
11683653 2726.64 T C PASS 1/1 90 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.97504 0.97500 0.02630 None None None None None None FDFT1|0.104063444|50.39%

FRG1

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 muestra1_s1 4 . 190862176 28.21 C A LowGQX;LowQD 0/1 59 STOP_GAINED HIGH None None None None None None None FRG1|0.098149242|51.5%

GBA3

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 muestra1_s1 4 rs358231
dbSNP Clinvar
22820504 410.12 A T PASS 0/1 59 STOP_LOST HIGH None 0.89157 0.89160 0.11608 None None None None None None None

GBE1

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 muestra1_s1 3 rs2229519
dbSNP Clinvar
81698130 685.19 T C PASS 0/1 40 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%

GP6

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 muestra1_s1 19 rs773724485
dbSNP Clinvar
55526103 4227.45 G GCAGA PASS 0/1 192 FRAME_SHIFT HIGH None None None None None None None GP6|0.001463632|92.98%

GRM5

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 muestra1_s1 11 . 88780871 15.31 C A LowGQX;LowQD;SB 0/1 13 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None GRM5|0.60765444|11.53%

GSTA3

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 muestra1_s1 6 rs41273858
dbSNP Clinvar
52767199 105.45 T C PASS 0/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00519 0.00519 0.00869 0.01 0.77 None None None None None None GSTA3|0.17973811|39.08%

HCN2

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 muestra1_s1 19 rs1054786
dbSNP Clinvar
613898 3059.84 T C PASS 1/1 116 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82169 0.82170 0.30923 None None None None None None None

HIBCH

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 muestra1_s1 2 rs291466
dbSNP Clinvar
191184475 1493.85 A G PASS 0/1 140 START_LOST HIGH None 0.43171 0.43170 0.44810 0.01 0.04 None None None None None None HIBCH|0.096813865|51.74%

HIF1AN

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 muestra1_s1 10 rs2295778
dbSNP Clinvar
102295836 3337.11 C G PASS 1/1 111 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.18071 0.18070 0.18635 0.27 0.00 None None None None None None HIF1AN|0.606273474|11.58%

HLA-A

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 muestra1_s1 6 rs45576436
dbSNP Clinvar
29912028 394.39 AG A PASS 0/1 26 FRAME_SHIFT HIGH None 0.37061 0.37060 0.36783 None None None None None None HLA-A|0.043055872|64.8%

HLA-DRB1

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 muestra1_s1 6 rs11554463
dbSNP Clinvar
32551935 671.66 G T PASS 0/1 84 STOP_GAINED HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View muestra1_s1 6 rs9269957
dbSNP Clinvar
32552141 513.59 G A PASS 0/1 29 STOP_GAINED HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%
View muestra1_s1 6 rs9269958
dbSNP Clinvar
32552143 913.93 C T PASS 1/1 29 STOP_GAINED HIGH None 0.69429 0.69430 None None None None None None HLA-DRB1|0.032266025|68.49%

HLA-DRB5

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 muestra1_s1 6 rs41554620
dbSNP Clinvar
32489731 774.57 G C PASS 0/1 104 STOP_GAINED HIGH None None None None None None None HLA-DRB5|0.020830666|73.74%
View muestra1_s1 6 rs201046358
dbSNP Clinvar
32486438 257.82 G A LowGQ;LowGQX 0/1 15 STOP_GAINED HIGH None 0.12061 0.12060 None None None None None None HLA-DRB5|0.020830666|73.74%

HYDIN

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 muestra1_s1 16 rs11337008,rs57797337
dbSNP Clinvar
70896015 228.1 GA G PASS 0/1 24 FRAME_SHIFT HIGH None None None None None None None HYDIN|0.080749251|55.02%

IL17RA

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 muestra1_s1 22 rs12484684
dbSNP Clinvar
17589794 1918.14 C A PASS 0/1 171 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.11302 0.11300 0.00508 0.00 0.97 None None None None None None None

IL17RB

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 muestra1_s1 3 rs1043261
dbSNP Clinvar
53899276 1265.56 C T PASS 0/1 101 STOP_GAINED HIGH None 0.13518 0.13520 0.08396 None None None None None None IL17RB|0.015681816|76.66%

KIF7

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 muestra1_s1 15 . 90191788 7.08 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None KIF7|0.130532597|45.81%

KIR2DL4

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 19 rs11371265,rs11410751
dbSNP Clinvar
55324674 1796.55 C CA PASS 1/1 82 FRAME_SHIFT HIGH None None None None None None None KIR3DL1|0.000640018|97.61%,KIR2DL4|0.000718329|97.16%

KISS1

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 1 rs71745629
dbSNP Clinvar
204159611 2513.6 CT C PASS 0/1 144 FRAME_SHIFT+STOP_LOST HIGH None 0.22185 0.22180 0.16724 None None None None None None KISS1|0.005171021|85.61%

LPIN1

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 muestra1_s1 2 . 11911538 4.87 C A LowGQX;LowQD;SB 0/1 16 STOP_GAINED HIGH None None None None None None None LPIN1|0.048089992|63.3%

LRP6

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 12 rs2302685
dbSNP Clinvar
12301898 870.35 C T PASS 1/1 28 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%

MICA

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 muestra1_s1 6 rs41293539
dbSNP Clinvar
31380161 3294.06 G GC... PASS 0/1 31 FRAME_SHIFT HIGH None 0.00659 0.23380 None None None None None None MICA|0.000484981|98.52%

MICB

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 6 rs3087326
dbSNP Clinvar
31474171 1249.43 C T PASS 0/1 126 STOP_GAINED HIGH None 0.00779 0.00779 0.00033 None None None None None None MICB|0.000655639|97.5%

MS4A12

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs2298553
dbSNP Clinvar
60265002 848.1 C T PASS 0/1 64 STOP_GAINED HIGH None 0.47824 0.47820 0.45241 None None None None None None MS4A12|0.000555931|98.15%

MTAP

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 9 rs7023954
dbSNP Clinvar
21816758 1264.27 G A PASS 1/1 42 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.38818 0.38820 0.42173 0.18 0.06 None None None None None None MTAP|0.185455845|38.31%

MTCH2

Omim - GeneCards - NCBI
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs796923130
dbSNP Clinvar
47660301 123.75 T A LowQD 0/1 71 STOP_GAINED HIGH None 2.31 0.01 0.12845 T None None None None MTCH2|0.544905089|13.99%

NCAM1

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 muestra1_s1 11 rs11284059,rs796286007
dbSNP Clinvar
112832339 2821.7 GC G PASS 1/1 68 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None NCAM1|0.995998055|0.75%

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 muestra1_s1 2 rs2233394
dbSNP Clinvar
233899377 6934.95 C T PASS 1/1 212 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.18770 0.18770 0.15528 None None None None None None NEU2|0.005389797|85.32%

NTRK1

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 muestra1_s1 1 rs6334
dbSNP Clinvar
156846233 1028.7 G A PASS 0/1 68 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21286 0.21290 0.19360 None None None None None None NTRK1|0.341411283|24.74%

OAS2

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 muestra1_s1 12 rs15895
dbSNP Clinvar
113448288 2313.66 A G PASS 1/1 71 STOP_LOST HIGH None 0.86442 0.86440 0.25027 None None None None None None OAS2|0.001433626|93.17%

P2RX5

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 muestra1_s1 17 rs3215407,rs397743686
dbSNP Clinvar
3594276 3198.84 TG T PASS 1/1 86 FRAME_SHIFT HIGH None 0.57348 0.57350 0.45614 None None None None None None P2RX5|0.012153199|79.12%

PARK2

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 muestra1_s1 6 rs1801474
dbSNP Clinvar
162622197 1253.43 C T PASS 0/1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.11741 0.11740 0.03921 0.33 0.00 None None None None None None PARK2|0.995622647|0.77%

PCSK9

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 muestra1_s1 1 rs540796
dbSNP Clinvar
55524197 3545.03 A G PASS 1/1 114 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.86921 0.86920 0.18222 None None None None None None PCSK9|0.022266519|73.06%

PDE4B

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 muestra1_s1 1 rs783036
dbSNP Clinvar
66831370 1160.86 G A PASS 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51498 0.51500 0.43065 None None None None None None PDE4B|0.691794719|8.72%

PDXK

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 muestra1_s1 21 rs11539534
dbSNP Clinvar
45168884 1190.66 G A PASS 0/1 102 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.15096 0.15100 0.08012 None None None None None None PDXK|0.079279748|55.34%

PIN1

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 muestra1_s1 19 rs2233682
dbSNP Clinvar
9949152 1391.87 G A PASS 0/1 95 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.08387 0.08387 0.06203 None None None None None None PIN1|0.769937875|6.57%

PLA2G7

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 muestra1_s1 6 rs1805017
dbSNP Clinvar
46684222 750.27 C T PASS 0/1 56 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31749 0.31750 0.26649 0.76 0.00 None None None None None None PLA2G7|0.042518111|64.94%

PLEC

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 muestra1_s1 8 . 144998651 3.53 G A LowGQX;LowQD;SB 0/1 5 STOP_GAINED HIGH None None None None None None None PLEC|0.108831887|49.41%

PNP

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 muestra1_s1 14 rs1049562
dbSNP Clinvar
20940515 482.44 C T PASS 0/1 51 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17213 0.17210 0.18122 None None None None None None PNP|0.117411825|47.87%
View muestra1_s1 14 rs1130650
dbSNP Clinvar
20940626 126.83 C T PASS 0/1 16 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20447 0.20450 0.19829 None None None None None None PNP|0.117411825|47.87%

PPT1

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 muestra1_s1 1 rs1800205
dbSNP Clinvar
40557033 618.34 A G PASS 0/1 47 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07388 0.07388 0.03491 0.37 0.00 None None None None None None PPT1|0.381012222|21.97%

PRB3

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 muestra1_s1 12 rs3842295
dbSNP Clinvar
11420333 783.66 AG A PASS 1/1 22 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.82408 0.82410 0.10774 None None None None None None PRB3|0.000537603|98.24%

PRKDC

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 muestra1_s1 8 rs11411516,rs397814002
dbSNP Clinvar
48805816 3516.04 A AG PASS 1/1 87 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00078 None None None None None None PRKDC|0.642781418|10.36%