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+ Genes 344

Genes:
AARD, ABRA, AC016885.1, ADAM18, ADAM28, ADAM32, ADAM7, ADAMDEC1, ADCK5, ADCY8, ADHFE1, ADRA1A, AGO2, ANGPT2, ANK1, ANXA13, ARC, ARHGAP39, ARHGEF10, ASAH1, ASAP1, ASH2L, ASPH, ATP6V1C1, AZIN1, BAI1, BIN3, BLK, C8orf12, C8orf31, C8orf34, C8orf4, C8orf48, C8orf49, C8orf59, C8orf74, C8orf82, C8orf86, CA2, CA3, CA8, CCAR2, CDCA2, CDH17, CHD7, CHRNA2, CHRNB3, CLU, CNBD1, CNGB3, CNOT7, COL14A1, COL22A1, COX6C, CPA6, CPNE3, CPQ, CPSF1, CRH, CSGALNACT1, CSMD1, CSMD3, CYC1, CYHR1, CYP11B1, CYP11B2, CYP7A1, DCAF13, DDHD2, DEFA4, DEFB136, DENND3, DEPTOR, DLC1, DLGAP2, DOCK5, DOK2, DPY19L4, DPYS, DPYSL2, DSCC1, DUSP4, E2F5, EBF2, EEF1D, EFR3A, EGR3, EIF3H, ENPP2, ENTPD4, EPHX2, EPPK1, ERI1, ERICH1, ESRP1, EXT1, EYA1, FAM135B, FAM160B2, FAM167A, FAM49B, FAM83H, FAM86B1, FAM91A1, FBXO16, FBXO25, FBXO32, FBXO43, FDFT1, FER1L6, FGF20, FGL1, FUT10, FZD3, GDAP1, GEM, GFRA2, GGH, GINS4, GLI4, GPIHBP1, GPT, GRINA, GSDMC, GSDMD, HGSNAT, HHLA1, HNF4G, HR, HRSP12, HTRA4, IDO2, IMPA1, KCNK9, KCNQ3, KCNU1, KIAA1429, KIAA1456, KIAA1875, KIF13B, KIFC2, KLF10, KLHL38, LACTB2, LAPTM4B, LEPROTL1, LOXL2, LPL, LRRC14, LRRC24, LRRC6, LRRC69, LY6D, LY6H, LY6K, LY96, LYN, LYNX1, LYPD2, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MFHAS1, MFSD3, MICU3, MROH1, MROH5, MROH6, MSR1, MSRA, MTBP, MTFR1, MTMR7, MTMR9, MTUS1, MYC, MYOM2, NAPRT1, NAT2, NBN, NDUFB9, NEFM, NKAIN3, NOV, NRBP2, NRG1, NSMAF, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OTUD6B, PABPC1, PAG1, PARP10, PBK, PCM1, PCMTD1, PDE7A, PDGFRL, PDLIM2, PEBP4, PENK, PEX2, PHF20L1, PHYHIP, PINX1, PKHD1L1, PLAT, PLEC, PLEKHA2, PMP2, POLR3D, PPP1R16A, PPP1R3B, PRDM14, PREX2, PRKDC, PRSS55, PSCA, PSD3, PSKH2, PTK2B, PXDNL, R3HCC1, RAB11FIP1, RAD54B, RB1CC1, RBM12B, RECQL4, RGS22, RHOBTB2, RMDN1, RNF122, RP1, RP11-10J21.3, RP11-386G21.2, RP11-422N16.3, RP11-521M14.2, RP11-758M4.1, RP1L1, RRM2B, RRS1, RSPO2, SAMD12, SBSPON, SCARA5, SCRIB, SDC2, SFTPC, SGCZ, SGK223, SH2D4A, SHARPIN, SLA, SLC18A1, SLC25A37, SLC30A8, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC7A13, SLC7A2, SLCO5A1, SNTG1, SNX16, SNX31, SORBS3, SPAG11A, SPATC1, SQLE, ST18, ST3GAL1, STAR, STAU2, STMN4, TACC1, TAF2, TBC1D31, TEX15, TG, TGS1, THEM6, TIGD5, TMEM249, TMEM64, TMEM66, TMEM67, TMEM71, TMEM74, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TOX, TP53INP1, TRAPPC9, TRPA1, TSPYL5, TSTA3, TTI2, UBR5, USP17L2, UTP23, VPS13B, VPS37A, WDYHV1, WISP1, WRN, XKR6, XPO7, ZC2HC1A, ZC3H3, ZFAT, ZFHX4, ZFP41, ZHX2, ZNF16, ZNF250, ZNF251, ZNF395, ZNF517, ZNF572, ZNF596, ZNF623, ZNF696, ZNF704, ZNF705G, ZNF707,

+ Genes associated with diseases 76

Genes at Omim

ANK1, ARHGEF10, ASAH1, ASPH, BLK, CA2, CA8, CHD7, CHRNA2, CNGB3, CPA6, CYC1, CYP11B1, CYP11B2, DDHD2, DLC1, DPYS, EPHX2, ESRP1, EXT1, EYA1, FAM83H, FDFT1, FGF20, GDAP1, GPIHBP1, HGSNAT, HR, IMPA1, KCNK9, KCNQ3, LPL, LRRC6, MAFA, MCM4, MCPH1, MFHAS1, MSR1, MYC, NAT2, NBN, NDUFB9, NRG1, OPLAH, OTUD6B, PDGFRL, PEX2, PLAT, PMP2, PRKDC, RAD54B, RB1CC1, RECQL4, RHOBTB2, RP1, RP1L1, RRM2B, RSPO2, SAMD12, SFTPC, SLC30A8, SLC39A14, SLC39A4, STAR, TAF2, TEX15, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, VPS13B, VPS37A, ZFHX4,
ANK1 Spherocytosis, type 1, 182900 (3)
ARHGEF10 ?Slowed nerve conduction velocity, AD, 608236 (3)
ASAH1 Farber lipogranulomatosis, 228000 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
ASPH Traboulsi syndrome, 601552 (3)
BLK Maturity-onset diabetes of the young, type 11, 613375 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
CHD7 CHARGE syndrome, 214800 (3)
Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CNGB3 Achromatopsia 3, 262300 (3)
Macular degeneration, juvenile, 248200 (3)
CPA6 Febrile seizures, familial, 11, 614418 (3)
Epilepsy, familial temporal lobe, 5, 614417 (3)
CYC1 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (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)
DDHD2 Spastic paraplegia 54, autosomal recessive, 615033 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
DPYS Dihydropyrimidinuria, 222748 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
ESRP1 ?Deafness, autosomal recessive 109, 618013 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
EYA1 Anterior segment anomalies with or without cataract, 602588 (3)
Branchiootic syndrome 1, 602588 (3)
Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)
?Otofaciocervical syndrome, 166780 (3)
FAM83H Amelogenesis imperfecta, type IIIA, 130900 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGF20 ?Renal hypodysplasia/aplasia 2, 615721 (3)
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)
Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Charcot-Marie-Tooth disease, type 4A, 214400 (3)
GPIHBP1 Hyperlipoproteinemia, type 1D, 615947 (3)
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Retinitis pigmentosa 73, 616544 (3)
HR Alopecia universalis, 203655 (3)
Atrichia with papular lesions, 209500 (3)
Hypotrichosis 4, 146550 (3)
IMPA1 Mental retardation, autosomal recessive 59, 617323 (3)
KCNK9 Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
KCNQ3 Seizures, benign neonatal, 2, 121201 (3)
LPL Combined hyperlipidemia, familial, 144250 (3)
Lipoprotein lipase deficiency, 238600 (3)
[High density lipoprotein cholesterol level QTL 11] (3)
LRRC6 Ciliary dyskinesia, primary, 19, 614935 (3)
MAFA Insulinomatosis and diabetes mellitus, 147630 (3)
MCM4 Immunodeficiency 54, 609981 (3)
MCPH1 Microcephaly 1, primary, autosomal recessive, 251200 (3)
MFHAS1 Malignant fibrous histiocytoma (2)
MSR1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
MYC Burkitt lymphoma, somatic, 113970 (3)
NAT2 [Acetylation, slow], 243400 (3)
NBN Aplastic anemia, 609135 (3)
Leukemia, acute lymphoblastic, 613065 (3)
Nijmegen breakage syndrome, 251260 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
NRG1 {?Schizophrenia, susceptibility to}, 603013 (1)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
OTUD6B Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3)
PDGFRL Hepatocellular cancer, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
PEX2 Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)
Peroxisome biogenesis disorder 5B, 614867 (3)
PLAT Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1)
Thrombophilia, familial, due to decreased release of PLAT, 612348 (1)
PMP2 Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RAD54B Colon cancer, somatic, 114500 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
RB1CC1 Breast cancer, somatic, 114480 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RHOBTB2 Epileptic encephalopathy, early infantile, 64, 618004 (3)
RP1 Retinitis pigmentosa 1, 180100 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
RSPO2 ?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3)
Tetraamelia syndrome 2, 618021 (3)
SAMD12 Epilepsy, familial adult myoclonic, 1, 601068 (3)
SFTPC Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
SLC30A8 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
?Hyperostosis cranalis interna, 144755 (3)
SLC39A4 Acrodermatitis enteropathica, 201100 (3)
STAR Lipoid adrenal hyperplasia, 201710 (3)
TAF2 Mental retardation, autosomal recessive 40, 615599 (3)
TEX15 Spermatogenic failure 25, 617960 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TMEM67 COACH syndrome, 216360 (3)
Joubert syndrome 6, 610688 (3)
Meckel syndrome 3, 607361 (3)
Nephronophthisis 11, 613550 (3)
?RHYNS syndrome, 602152 (3)
{Bardet-Biedl syndrome 14, modifier of}, 615991 (3)
TNFRSF10B Squamous cell carcinoma, head and neck, 275355 (3)
TNFRSF11B Paget disease of bone 5, juvenile-onset, 239000 (3)
TRAPPC9 Mental retardation, autosomal recessive 13, 613192 (3)
TRPA1 ?Episodic pain syndrome, familial, 1, 615040 (3)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
VPS13B Cohen syndrome, 216550 (3)
VPS37A Spastic paraplegia 53, autosomal recessive, 614898 (3)
ZFHX4 ?Ptosis, congenital, 178300 (2)

Genes at Clinical Genomics Database

ANK1, ARHGEF10, ASAH1, ASPH, BLK, CA2, CA8, CHD7, CHRNA2, CNGB3, CPA6, CYC1, CYP11B1, CYP11B2, DDHD2, DPYS, EXT1, EYA1, FAM83H, FGF20, GDAP1, GPIHBP1, HGSNAT, HR, KCNK9, KCNQ3, LPL, LRRC6, MCM4, MCPH1, MSR1, NAT2, NBN, OPLAH, PEX2, PLEC, PRKDC, RB1CC1, RECQL4, RP1, RP1L1, RRM2B, SFTPC, SLC39A4, STAR, TAF2, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, VPS13B, VPS37A, WRN,
ANK1 Spherocytosis, hereditary 1
ARHGEF10 Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy)
ASAH1 Farber lipogranulomatosis
Spinal muscular atrophy with progressive myoclonic epilepsy
ASPH Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB)
BLK Maturity-onset diabetes of the young, type 11
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CHD7 CHARGE syndrome
Hypogonadotropic hypogonadism 5 with or without anosmia
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
CNGB3 Achromatopsia 3
Macular degeneration, juvenile
CPA6 Febrile seizures, familial, 11
Epilepsy, familial temporal lobe, 5
CYC1 Mitochondrial complex III deficiency, nuclear type
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
DDHD2 Spastic paraplegia 54
DPYS Dihydropyriminidase deficiency
EXT1 Exostoses, multiple, type 1
EYA1 Branchiootic syndrome 1
Branchiootorenal syndrome 1
Otofaciocervical syndrome 1
FAM83H Amelogenesis imperfecta, type 3
FGF20 Renal hypodysplasia/aplasia 2
GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, type 4A
GPIHBP1 Hyperlipoproteinemia, type ID
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
Retinitis pigmentosa 73
HR Hypotrichosis 4
Atrichia with papular lesions
Alopecia universalis congenita
KCNK9 Birk-Barel mental retardation dysmorphism syndrome
KCNQ3 Seizures, benign neonatal, 2
LPL Lipoprotein lipase deficiency
Combined hyperlipidemia, familial
Hyperlipoproteinemia, type I
LRRC6 Ciliary dyskinesia, primary 19
MCM4 Natural killer cell and glucocorticoid deficiency with DNA repair defect
MCPH1 Microcephaly, primary autosomal recessive, 1
MSR1 Barrett esophagus/esophageal adenocarcinoma
Prostate cancer
NAT2 Acetylation, NAT2-related
NBN Breast cancer, susceptibility to
Nijmegen breakage syndrome
OPLAH 5-oxoprolinase deficiency
PEX2 Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 5B
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
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RB1CC1 Schizophrenia
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RP1 Retinitis pigmentosa 1, autosomal dominant
Retinitis pigmentosa 1, autosomal recessive
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
SFTPC Surfactant metabolism dysfunction, pulmonary, 2
SLC39A4 Acrodermatitis enteropathica
STAR Lipoid adrenal hyperplasia
TAF2 Mental retardation, autosomal recessive 40
TG Thyroid dyshormonogenesis 3
TMEM67 Nephronophthisis 11
Meckel syndrome 3
Joubert syndrome 6
COACH syndrome
TNFRSF10B Squamous cell carcinoma, head and neck
TNFRSF11B Paget disease of bone 5, juvenile
TRAPPC9 Mental retardation, autosomal recessive 13
TRPA1 Episodic pain syndrome, familial
TTI2 Mental retardation, autosomal recessive 39
VPS13B Cohen syndrome
VPS37A Spastic paraplegia 53, autosomal recessive
WRN Werner syndrome

Genes at HGMD

Summary

Number of Variants: 7473
Number of Genes: 344

Export to: CSV

AARD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3405_16 8 rs16889283
dbSNP Clinvar 		117950768 527.18 G C PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.29752 0.29750 0.22139 1.00 0.00 None None None None None None AARD|0.002413516|89.86%

ABRA
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 snps raw-variants selected 3405_16 8 rs11996457
dbSNP Clinvar 		107782335 1106.9 G A PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.28055 0.28060 0.29940 None None None None None None ABRA|0.085117815|54.14%
View snps raw-variants selected 3405_16 8 rs11996466
dbSNP Clinvar 		107782395 1701.92 G A PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.44090 0.44090 0.40969 None None None None None None ABRA|0.085117815|54.14%

AC016885.1
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 snps raw-variants selected 3405_16 8 rs278562
dbSNP Clinvar 		94242350 423.91 A G PASS 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.54094 0.54090 0.10 0.40 None None None None None None None

ADAM18
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 snps raw-variants selected 3405_16 8 rs12708194
dbSNP Clinvar 		39496029 7580.9 T C PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.58846 0.58850 0.30568 None None None None None None ADAM18|0.01116597|79.89%

ADAM28
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3405_16 8 rs7814768
dbSNP Clinvar 		24211331 9851.35 G A PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.96705 0.96710 0.02169 1.00 0.00 None None None None None None ADAM28|0.028862647|69.97%

ADAM32
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3405_16 8 rs7845771
dbSNP Clinvar 		39080632 9962.35 C G PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.95827 0.95830 0.03848 1.00 0.01 None None None None None None ADAM32|0.008880265|81.76%
View snps raw-variants selected 3405_16 8 rs199517433
dbSNP Clinvar 		39111997 767.9 G A PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00093 0.14 0.01 None None None None None None ADAM32|0.008880265|81.76%

ADAM7
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 snps raw-variants selected 3405_16 8 rs13255694
dbSNP Clinvar 		24339679 11093.3 G A PASS 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.26138 0.26140 0.26096 0.00 1.00 None None None None None None ADAM7|0.013206563|78.36%
View snps raw-variants selected 3405_16 8 rs13259668
dbSNP Clinvar 		24356818 5111.33 A C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.32628 0.32630 0.33046 0.08 0.00 None None None None None None ADAM7|0.013206563|78.36%
View snps raw-variants selected 3405_16 8 rs13277171
dbSNP Clinvar 		24359068 4020.33 G A PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.26478 0.26480 0.26265 None None None None None None ADAM7|0.013206563|78.36%

ADAMDEC1
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 snps raw-variants selected 3405_16 8 rs3765124
dbSNP Clinvar 		24261526 7517.33 A G PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.29493 0.29490 0.34453 0.09 0.46 None None None None None None ADAMDEC1|0.01425096|77.67%
View snps raw-variants selected 3405_16 8 rs2291577
dbSNP Clinvar 		24256470 9155.33 C T PASS 1/1 107 SYNONYMOUS_CODING LOW None 0.29293 0.29290 0.34269 None None None None None None ADAMDEC1|0.01425096|77.67%

ADCK5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3405_16 8 rs6599528
dbSNP Clinvar 		145603114 2840.9 A C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.63239 0.63240 0.45824 0.80 0.00 None None None None None None ADCK5|0.009712798|81.05%
View snps raw-variants selected 3405_16 8 rs148509143,rs563415390
dbSNP Clinvar 		145617534 5915.86 TG... T PASS 0/1 37 None None None 0.62700 0.62700 0.42097 None None None None None None ADCK5|0.009712798|81.05%

ADCY8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3405_16 8 rs12547243
dbSNP Clinvar 		131921956 5314.9 A G PASS 0/1 91 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%

ADHFE1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3405_16 8 rs1060242
dbSNP Clinvar 		67380528 2404.9 T C PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.57947 0.57950 0.44349 1.00 0.00 None None None None None None ADHFE1|0.859920053|4.46%,C8orf46|0.07752265|55.76%

ADRA1A
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 snps raw-variants selected 3405_16 8 rs1048101
dbSNP Clinvar 		26628028 10503.3 A G PASS 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.64816 0.64820 0.45494 0.40 0.00 None None None None None None ADRA1A|0.171893562|40.07%
View snps raw-variants selected 3405_16 8 rs6989854
dbSNP Clinvar 		26636925 6554.35 T C PASS 1/1 81 None None None 0.64377 0.64380 None None None None None None ADRA1A|0.171893562|40.07%

AGO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3405_16 8 rs2293939
dbSNP Clinvar 		141551407 6411.9 G A PASS 1/1 95 SYNONYMOUS_CODING LOW None 0.22744 0.22740 0.20906 None None None None None None AGO2|0.736134544|7.47%

ANGPT2
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 snps raw-variants selected 3405_16 8 rs6559167
dbSNP Clinvar 		6389889 3572.92 C A,G PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.28974 0.28970 0.42734 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%

ANK1
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 snps raw-variants selected 3405_16 8 rs2304871
dbSNP Clinvar 		41585438 6917.9 G A PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.22844 0.22840 0.24965 None None None None None None ANK1|0.956309863|2.07%
View snps raw-variants selected 3405_16 8 rs750625
dbSNP Clinvar 		41525914 3113.9 C T PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.19469 0.19470 0.23120 None None None None None None ANK1|0.956309863|2.07%
View snps raw-variants selected 3405_16 8 rs504574
dbSNP Clinvar 		41553928 664.9 C G PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.40715 0.40710 0.36285 None None None None None None ANK1|0.956309863|2.07%
View snps raw-variants selected 3405_16 8 rs2304880
dbSNP Clinvar 		41559609 998.9 G A PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.18071 0.18070 0.19622 None None None None None None ANK1|0.956309863|2.07%
View snps raw-variants selected 3405_16 8 rs1137177
dbSNP Clinvar 		41563685 987.9 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.18091 0.18090 0.19637 None None None None None None ANK1|0.956309863|2.07%

ANXA13
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 snps raw-variants selected 3405_16 8 rs2294013
dbSNP Clinvar 		124710729 3061.9 C T PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.29479 0.12 0.02 None None None None None None ANXA13|0.222416197|34.14%
View snps raw-variants selected 3405_16 8 rs2294015
dbSNP Clinvar 		124696867 3792.9 C T PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.69609 0.69610 0.31785 1.00 0.00 None None None None None None ANXA13|0.222416197|34.14%

ARC
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 snps raw-variants selected 3405_16 8 rs28686812
dbSNP Clinvar 		143694775 3344.92 G C PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.50060 0.50060 0.49477 None None None None None None ARC|0.130590354|45.8%
View snps raw-variants selected 3405_16 8 rs2234911
dbSNP Clinvar 		143695144 2236.92 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.47025 None None None None None None ARC|0.130590354|45.8%

ARHGAP39
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 3405_16 8 rs567062685
dbSNP Clinvar 		145773431 1380.9 G T PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None ARHGAP39|0.083072421|54.56%

ARHGEF10
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 snps raw-variants selected 3405_16 8 rs34655804
dbSNP Clinvar 		1833804 2571.9 C T PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.04593 0.04593 0.05105 None None None None None None ARHGEF10|0.010635325|80.42%

ASAH1
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 snps raw-variants selected 3405_16 8 rs1049874
dbSNP Clinvar 		17927327 1167.9 T C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.42053 0.42050 0.42163 0.93 0.00 None None None None None None ASAH1|0.03988949|65.81%
View snps raw-variants selected 3405_16 8 rs1071645
dbSNP Clinvar 		17928811 1319.9 C T PASS 0/1 67 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.42053 0.42050 0.42427 0.19 0.00 None None None None None None ASAH1|0.03988949|65.81%
View snps raw-variants selected 3405_16 8 rs3753115
dbSNP Clinvar 		17930772 1387.9 C T PASS 0/1 63 None None None 0.41354 0.41350 0.42394 0.33 0.00 None None None None None None ASAH1|0.03988949|65.81%
View snps raw-variants selected 3405_16 8 rs10103355
dbSNP Clinvar 		17918934 8400.35 A G PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.85024 0.85020 0.13340 0.92 0.00 None None None None None None ASAH1|0.03988949|65.81%

ASAP1
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 snps raw-variants selected 3405_16 8 rs13265869
dbSNP Clinvar 		131353139 1627.9 T C PASS 0/1 74 None None None 0.56350 0.56350 None None None None None None ASAP1|0.438507149|18.75%

ASH2L
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 snps raw-variants selected 3405_16 8 rs2843740
dbSNP Clinvar 		37985897 10806.3 A G PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.84804 0.84800 0.08396 None None None None None None ASH2L|0.428566452|19.21%

ASPH
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 snps raw-variants selected 3405_16 8 rs145678786
dbSNP Clinvar 		62577838 5871.9 T C PASS 0/1 168 None None None 0.00100 0.00100 0.00077 0.00 0.08 None None None None None None ASPH|0.124407055|46.75%
View snps raw-variants selected 3405_16 8 rs148064193
dbSNP Clinvar 		62555454 1526.9 C T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.00100 0.00100 None None None None None None ASPH|0.124407055|46.75%

ATP6V1C1
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 snps raw-variants selected 3405_16 8 rs7009365
dbSNP Clinvar 		104054603 751.9 T C PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.07628 0.07628 0.07128 None None None None None None ATP6V1C1|0.410709354|20.15%

AZIN1
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 snps raw-variants selected 3405_16 8 rs1062048
dbSNP Clinvar 		103851052 5358.92 T C PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.19988 0.19990 0.20421 None None None None None None AZIN1|0.715198945|8.12%

BAI1
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 snps raw-variants selected 3405_16 8 rs7460600
dbSNP Clinvar 		143603418 5956.35 G C PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.90375 0.90380 0.09007 None None None None None None ADGRB1|0.079978463|55.17%

BIN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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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 snps raw-variants selected 3405_16 8 rs900268
dbSNP Clinvar 		22482851 6315.35 A C PASS 1/1 53 None None None 0.99121 0.99120 0.00 0.89 None None None None None None BIN3|0.312765796|26.64%
View snps raw-variants selected 3405_16 8 rs1871900
dbSNP Clinvar 		22481449 3630.9 A G PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.49720 0.49720 0.45654 None None None None None None BIN3|0.312765796|26.64%

BLK
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 snps raw-variants selected 3405_16 8 rs2306234
dbSNP Clinvar 		11414237 3606.9 T C PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.82768 0.82770 0.18753 None None None None None None BLK|0.095762795|51.98%
View snps raw-variants selected 3405_16 8 rs3816668
dbSNP Clinvar 		11406593 2006.9 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.49031 None None None None None None BLK|0.095762795|51.98%

C8orf12
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 snps raw-variants selected 3405_16 8 rs111707729
dbSNP Clinvar 		11295597 637.9 C T PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.01298 0.01298 0.00 0.00 None None None None None None FAM167A-AS1|0.000825171|96.52%,FAM167A|0.032787665|68.25%

C8orf31
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 snps raw-variants selected 3405_16 8 rs11136300
dbSNP Clinvar 		144124609 6142.92 T C PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.33292 0.06 0.01 None None None None None None C8orf31|0.000375865|99.11%

C8orf34
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 snps raw-variants selected 3405_16 8 rs2289831
dbSNP Clinvar 		69434195 1952.9 T C PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.20727 0.20730 0.21283 None None None None None None C8orf34|0.356828577|23.69%

C8orf4
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 snps raw-variants selected 3405_16 8 rs6474226
dbSNP Clinvar 		40011079 10674.3 G A PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.98662 0.98660 0.01107 0.53 0.00 None None None None None None C8orf4|0.263856916|30.39%

C8orf48
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 snps raw-variants selected 3405_16 8 rs13273355
dbSNP Clinvar 		13424583 7051.9 C T PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.81210 0.81210 0.20894 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%
View snps raw-variants selected 3405_16 8 rs11203497
dbSNP Clinvar 		13425353 10208.3 T A PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.98502 0.98500 0.01533 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%

C8orf49
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 snps raw-variants selected 3405_16 8 rs804285
dbSNP Clinvar 		11618998 2253.35 G C PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.97344 0.97340 1.00 0.00 None None None None None None C8orf49|0.001687308|91.93%
View snps raw-variants selected 3405_16 8 rs809204
dbSNP Clinvar 		11619163 5680.9 A G PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.25160 0.25160 0.00 0.35 None None None None None None C8orf49|0.001687308|91.93%
View snps raw-variants selected 3405_16 8 rs2740431
dbSNP Clinvar 		11619261 8725.35 T A PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.94329 0.94330 None None None None None None C8orf49|0.001687308|91.93%
View snps raw-variants selected 3405_16 8 rs811966
dbSNP Clinvar 		11619334 9313.9 C T PASS 1/1 113 SYNONYMOUS_CODING LOW None 0.69828 0.69830 None None None None None None C8orf49|0.001687308|91.93%
View snps raw-variants selected 3405_16 8 rs809203
dbSNP Clinvar 		11619504 6217.9 T A PASS 1/1 85 STOP_GAINED HIGH None 0.25140 0.25140 None None None None None None C8orf49|0.001687308|91.93%

C8orf59
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 snps raw-variants selected 3405_16 8 rs112611553
dbSNP Clinvar 		86126827 18120.3 C CA... PASS 1/1 44 CODON_INSERTION MODERATE None 0.99720 0.99720 0.00399 None None None None None None E2F5|0.388960651|21.48%,C8orf59|0.106330723|49.9%

C8orf74
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 snps raw-variants selected 3405_16 8 rs11250058
dbSNP Clinvar 		10530218 2128.35 C T PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.99241 0.99240 0.00008 0.33 0.00 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%

C8orf82
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 snps raw-variants selected 3405_16 8 rs11557085
dbSNP Clinvar 		145752900 362.28 C T PASS 1/1 4 SYNONYMOUS_CODING LOW None 0.39417 0.39420 None None None None None None C8orf82|0.009303358|81.44%

C8orf86
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 snps raw-variants selected 3405_16 8 rs1378332
dbSNP Clinvar 		38385914 1064.9 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.12660 0.12660 0.10364 0.01 0.00 None None None None None None C8orf86|0.000942492|95.83%

CA2
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 snps raw-variants selected 3405_16 8 rs703
dbSNP Clinvar 		86389403 5680.9 T C PASS 0/1 70 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

CA3
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 snps raw-variants selected 3405_16 8 rs20571
dbSNP Clinvar 		86351997 8505.9 G A PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.48578 1.00 0.00 None None None None None None CA3|0.309141355|26.9%

CA8
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 snps raw-variants selected 3405_16 8 rs7464181
dbSNP Clinvar 		61178574 5995.9 T C PASS 1/1 70 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CCAR2
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 snps raw-variants selected 3405_16 8 rs7843828
dbSNP Clinvar 		22463623 1629.9 C T PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.30351 0.30350 0.31170 None None None None None None CCAR2|0.363674682|23.18%
View snps raw-variants selected 3405_16 8 rs3736147
dbSNP Clinvar 		22471824 2978.9 G A PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.26937 0.26940 0.26273 None None None None None None CCAR2|0.363674682|23.18%
View snps raw-variants selected 3405_16 8 rs6558165
dbSNP Clinvar 		22473224 2067.9 T C PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.13578 0.13580 0.12986 None None None None None None CCAR2|0.363674682|23.18%

CDCA2
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 snps raw-variants selected 3405_16 8 rs10108752
dbSNP Clinvar 		25323777 16603.3 T C PASS 1/1 154 SYNONYMOUS_CODING LOW None 0.95547 0.95550 0.04598 None None None None None None CDCA2|0.009449627|81.34%
View snps raw-variants selected 3405_16 8 rs4872318
dbSNP Clinvar 		25364331 11618.3 G A PASS 1/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.22644 0.22640 0.25750 0.01 0.34 None None None None None None CDCA2|0.009449627|81.34%

CDH17
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 snps raw-variants selected 3405_16 8 rs1051623
dbSNP Clinvar 		95143186 5184.33 C G PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.78395 0.78390 0.16639 0.34 0.00 None None None None None None CDH17|0.034427264|67.65%
View snps raw-variants selected 3405_16 8 rs1131830
dbSNP Clinvar 		95158382 4947.9 C T PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.43151 0.43150 0.45541 None None None None None None CDH17|0.034427264|67.65%
View snps raw-variants selected 3405_16 8 rs2243518
dbSNP Clinvar 		95188850 4433.9 T C PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.80232 0.80230 0.16861 0.52 0.00 None None None None None None CDH17|0.034427264|67.65%
View snps raw-variants selected 3405_16 8 rs1051624
dbSNP Clinvar 		95143172 3319.9 T G PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.44269 0.44270 0.47363 0.22 0.00 None None None None None None CDH17|0.034427264|67.65%

CHD7
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 snps raw-variants selected 3405_16 8 rs61729627
dbSNP Clinvar 		61766022 1706.9 G A PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.01717 0.01717 0.01463 None None None None None None CHD7|0.942578768|2.4%

CHRNA2
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 snps raw-variants selected 3405_16 8 rs891398
dbSNP Clinvar 		27324822 3100.92 T C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.61022 0.61020 0.41988 1.00 0.00 None None None None None None CHRNA2|0.020223368|74.06%

CHRNB3
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 snps raw-variants selected 3405_16 8 rs4952
dbSNP Clinvar 		42587065 2922.9 C T PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.02296 0.02296 0.03152 None None None None None None CHRNB3|0.206277486|35.99%
View snps raw-variants selected 3405_16 8 rs4953
dbSNP Clinvar 		42587659 3256.9 G C PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.03674 0.03674 0.04208 None None None None None None CHRNB3|0.206277486|35.99%

CLU
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 snps raw-variants selected 3405_16 8 rs7982
dbSNP Clinvar 		27462481 4355.9 A G PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.66454 0.66450 0.40212 None None None None None None CLU|0.219123407|34.47%

CNBD1
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 snps raw-variants selected 3405_16 8 rs9694259
dbSNP Clinvar 		88622043 7185.33 T G PASS 1/1 79 None None None 0.79713 0.79710 0.00 0.21 None None None None None None CNBD1|0.010944724|80.12%

CNGB3
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 snps raw-variants selected 3405_16 8 rs3735970
dbSNP Clinvar 		87588248 3938.9 T C PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.08227 0.08227 0.07843 None None None None None None CNGB3|0.068013081|57.91%
View snps raw-variants selected 3405_16 8 rs6471482
dbSNP Clinvar 		87679303 8696.35 A C PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.95747 0.95750 0.12141 1.00 0.00 None None None None None None CNGB3|0.068013081|57.91%
View snps raw-variants selected 3405_16 8 rs3735972
dbSNP Clinvar 		87588198 5083.9 T C PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.08227 0.08227 0.08096 0.21 0.04 None None None None None None CNGB3|0.068013081|57.91%
View snps raw-variants selected 3405_16 8 rs4961206
dbSNP Clinvar 		87666251 4535.9 T G PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.67971 0.67970 0.35941 0.30 0.01 None None None None None None CNGB3|0.068013081|57.91%

CNOT7
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 snps raw-variants selected 3405_16 8 rs2959606
dbSNP Clinvar 		17092164 13781.3 G T PASS 1/1 113 None None None 0.96006 0.96010 None None None None None None CNOT7|0.468115018|17.27%

COL14A1
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 snps raw-variants selected 3405_16 8 rs2305598
dbSNP Clinvar 		121210069 3238.94 T C PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.63439 0.63440 0.42465 None None None None None None COL14A1|0.765229358|6.75%
View snps raw-variants selected 3405_16 8 rs2305600
dbSNP Clinvar 		121215991 3513.94 T C PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.63838 0.63840 0.43165 None None None None None None COL14A1|0.765229358|6.75%
View snps raw-variants selected 3405_16 8 rs4870723
dbSNP Clinvar 		121228679 4382.94 A C PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.59006 0.59010 0.48401 0.01 0.30 None None None None None None COL14A1|0.765229358|6.75%
View snps raw-variants selected 3405_16 8 rs61753754
dbSNP Clinvar 		121239515 1758.9 G A PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.02057 0.02057 0.01799 None None None None None None COL14A1|0.765229358|6.75%
View snps raw-variants selected 3405_16 8 rs114236859
dbSNP Clinvar 		121292257 2683.9 G A PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.00679 0.00679 0.00607 0.03 0.96 None None None None None None COL14A1|0.765229358|6.75%
View snps raw-variants selected 3405_16 8 rs4463470
dbSNP Clinvar 		121383048 7583.35 T C PASS 1/1 72 None None None 0.82668 0.82670 0.01 0.00 None None None None None None COL14A1|0.765229358|6.75%

COL22A1
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 snps raw-variants selected 3405_16 8 rs2292927
dbSNP Clinvar 		139838912 6261.35 T C PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.83147 0.83150 0.17069 1.00 0.00 None None None None None None COL22A1|0.06710202|58.12%
View snps raw-variants selected 3405_16 8 rs10101430
dbSNP Clinvar 		139824057 8833.33 G A PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.48063 0.48060 0.49646 None None None None None None COL22A1|0.06710202|58.12%
View snps raw-variants selected 3405_16 8 rs10091563
dbSNP Clinvar 		139647262 6742.35 A G PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.26534 None None None None None None COL22A1|0.06710202|58.12%
View snps raw-variants selected 3405_16 8 rs4909444
dbSNP Clinvar 		139701209 8691.9 G T PASS 1/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.29173 0.29170 0.31447 0.62 0.01 None None None None None None COL22A1|0.06710202|58.12%

COX6C
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 snps raw-variants selected 3405_16 8 rs1130569
dbSNP Clinvar 		100899793 1093.92 G A PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.24940 0.24940 0.28480 None None None None None None COX6C|0.106176668|49.96%

CPA6
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 snps raw-variants selected 3405_16 8 rs17343819
dbSNP Clinvar 		68396915 3245.9 T C PASS 0/1 111 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.07907 0.07907 0.12410 0.35 0.00 None None None None None None CPA6|0.268380229|29.99%

CPNE3
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 snps raw-variants selected 3405_16 8 rs10956871
dbSNP Clinvar 		87540872 3761.9 G A PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.16474 0.16470 0.26126 None None None None None None CPNE3|0.341445337|24.73%

CPQ
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 snps raw-variants selected 3405_16 8 rs149981793
dbSNP Clinvar 		97797399 3323.9 T G PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.00379 0.00379 0.00415 0.08 0.03 None None None None None None CPQ|0.160118797|41.51%
View snps raw-variants selected 3405_16 8 rs61741750
dbSNP Clinvar 		97892059 3184.91 C T PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.03435 0.03435 0.03691 None None None None None None CPQ|0.160118797|41.51%