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+ Genes 308

Genes:
ADAM18, ADAM28, ADAM32, ADAM7, ADAMDEC1, ADCK5, ADCY8, ADHFE1, ADRA1A, AGO2, ANGPT2, ANK1, ANXA13, ARC, ARHGEF10, ASAH1, ASH2L, ASPH, ATP6V1C1, BAI1, BIN3, BLK, BMP1, C8orf34, C8orf4, C8orf48, C8orf59, C8orf74, C8orf87, CA2, CA3, CA8, CCAR2, CDCA2, CDH17, CHMP4C, CHRNA2, CLU, CNGB3, COL14A1, COL22A1, COX6C, CPNE3, CPQ, CPSF1, CSGALNACT1, CSMD1, CSMD3, CTHRC1, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, CYP7A1, DCAF13, DCSTAMP, DDHD2, DEFA4, DEFA5, DEFB1, DEFB106A, DEFB136, DENND3, DEPTOR, DLC1, DLGAP2, DOCK5, DOK2, DPYS, DPYSL2, DSCC1, E2F5, EBF2, EEF1D, EFR3A, EGR3, ENPP2, EPHX2, EPPK1, ERICH1, ESRP1, EXT1, EYA1, FAM135B, FAM150A, FAM167A, FAM83A, FAM83H, FAM86B1, FAM86B2, FAM91A1, FAM92A1, FBXO16, FBXO25, FBXO43, FDFT1, FER1L6, FGF20, FGL1, FUT10, FZD3, FZD6, GDAP1, GFRA2, GINS4, GOLGA7, GPIHBP1, GPR124, GPR20, GPT, GRINA, GSDMC, GSDMD, HGSNAT, HHLA1, HNF4G, HR, HTRA4, IDO2, INTS8, KAT6A, KCNB2, KCNK9, KCNQ3, KCNU1, KIAA0196, KIAA1429, KIAA1456, KIF13B, KIFC2, KLF10, KLHL38, LACTB2, LAPTM4B, LOXL2, LPL, LRRC14, LRRC24, LRRC6, LY6D, LY6K, LY96, LYN, MAF1, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MFHAS1, MROH1, MROH5, MROH6, MSR1, MSRA, MTBP, MTMR7, MTSS1, MTUS1, MYC, MYOM2, NAPRT1, NAT2, NBN, NEFM, NEIL2, NKAIN3, NOV, NPBWR1, NRG1, NSMAF, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OXR1, PABPC1, PAG1, PARP10, PBK, PCM1, PCMTD1, PDE7A, PDGFRL, PDLIM2, PEBP4, PEX2, PHF20L1, PHYHIP, PINX1, PKHD1L1, PLAT, PLEC, PLEKHA2, POLR3D, POU5F1B, PRDM14, PREX2, PRKDC, PRR23D1, PRSS55, PSD3, PTK2B, PXDNL, PYCRL, R3HCC1, RAB11FIP1, RAD21, RAD54B, RB1CC1, RECQL4, RGS22, RHOBTB2, RIMS2, RMDN1, RNF122, RP1, RP1L1, RRS1, RSPO2, SAMD12, SBSPON, SCARA5, SCRIB, SDC2, SFRP1, SGCZ, SGK223, SH2D4A, SHARPIN, SLA, SLC10A5, SLC18A1, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC7A13, SLCO5A1, SNTG1, SNX16, SNX31, SORBS3, SOX7, SPAG1, SPAG11A, SPAG11B, SPATC1, ST18, ST3GAL1, STAR, STAU2, TACC1, TAF2, TEX15, TG, TGS1, TIGD5, TMEM249, TMEM55A, TMEM66, TMEM67, TMEM70, TMEM74, TNFRSF10A, TNFRSF10B, TNFRSF10D, TNKS, TONSL, TOP1MT, TRAPPC9, TRIM55, TRPA1, TSPYL5, TSTA3, TTI2, UBR5, UBXN2B, USP17L2, VPS13B, VPS37A, WDYHV1, WISP1, WRN, XPO7, ZC2HC1A, ZC3H3, ZFAT, ZFHX4, ZFPM2, ZHX2, ZNF16, ZNF250, ZNF251, ZNF517, ZNF596, ZNF623, ZNF696, ZNF705D, ZNF705G, ZNF707,

+ Genes associated with diseases 74

Genes at Omim

ANK1, ARHGEF10, ASAH1, ASPH, BLK, BMP1, CA2, CA8, CHRNA2, CNGB3, CTHRC1, CTSB, CYC1, CYP11B1, CYP11B2, DDHD2, DLC1, DPYS, EPHX2, ESRP1, EXT1, EYA1, FAM83H, FDFT1, FGF20, FZD6, GDAP1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, KCNQ3, LPL, LRRC6, MCM4, MCPH1, MFHAS1, MSR1, MYC, NAT2, NBN, NRG1, OPLAH, PDGFRL, PEX2, PLAT, PRKDC, RAD21, RAD54B, RB1CC1, RECQL4, RHOBTB2, RP1, RP1L1, RSPO2, SAMD12, SLC39A14, SLC39A4, SPAG1, STAR, TAF2, TEX15, TG, TMEM67, TMEM70, TNFRSF10B, TRAPPC9, TRPA1, TTI2, VPS13B, VPS37A, ZFHX4, ZFPM2,
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)
BMP1 Osteogenesis imperfecta, type XIII, 614856 (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)
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CNGB3 Achromatopsia 3, 262300 (3)
Macular degeneration, juvenile, 248200 (3)
CTHRC1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
CTSB Keratolytic winter erythema, 148370 (4)
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)
FZD6 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (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)
KAT6A Mental retardation, autosomal dominant 32, 616268 (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)
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)
NRG1 {?Schizophrenia, susceptibility to}, 603013 (1)
OPLAH 5-oxoprolinase deficiency, 260005 (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)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RAD21 Cornelia de Lange syndrome 4, 614701 (3)
?Mungan syndrome, 611376 (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)
RSPO2 ?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3)
Tetraamelia syndrome 2, 618021 (3)
SAMD12 Epilepsy, familial adult myoclonic, 1, 601068 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
?Hyperostosis cranalis interna, 144755 (3)
SLC39A4 Acrodermatitis enteropathica, 201100 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (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)
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
TNFRSF10B Squamous cell carcinoma, head and neck, 275355 (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)
ZFPM2 Diaphragmatic hernia 3, 610187 (3)
46XY sex reversal 9, 616067 (3)
Tetralogy of Fallot, 187500 (3)

Genes at Clinical Genomics Database

ANK1, ARHGEF10, ASAH1, ASPH, BLK, BMP1, CA2, CA8, CHRNA2, CNGB3, CTHRC1, CYC1, CYP11B1, CYP11B2, DDHD2, DPYS, EXT1, EYA1, FAM83H, FGF20, FZD6, GDAP1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, KCNQ3, KIAA0196, LPL, LRRC6, MCM4, MCPH1, MSR1, NAT2, NBN, OPLAH, PEX2, PLEC, PRKDC, RAD21, RB1CC1, RECQL4, RP1, RP1L1, SLC39A4, STAR, TAF2, TG, TMEM67, TMEM70, TNFRSF10B, TRAPPC9, TRPA1, TTI2, VPS13B, VPS37A, WRN, ZFPM2,
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
BMP1 Osteogenesis imperfecta, type XIII
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
CNGB3 Achromatopsia 3
Macular degeneration, juvenile
CTHRC1 Barrett esophagus/Esophageal adenocarcinoma
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
FZD6 Nail disorder, nonsyndromic noncongenital 10
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
KAT6A Mental retardation, autosomal dominant 32
KCNK9 Birk-Barel mental retardation dysmorphism syndrome
KCNQ3 Seizures, benign neonatal, 2
KIAA0196 Spastic paraplegia 8
Ritscher-Schinzel syndrome 1 (3C syndrome)
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
RAD21 Cornelia de Lange syndrome 4
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
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
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TNFRSF10B Squamous cell carcinoma, head and neck
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
ZFPM2 46,XY sex reversal 9

Genes at HGMD

Summary

Number of Variants: 760
Number of Genes: 308

Export to: CSV

ADAM18
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs12708194
dbSNP Clinvar 		39496029 2362.0 T C PASS 0/1 96 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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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs6996616
dbSNP Clinvar 		24171051 442.0 C T PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.18610 0.18610 0.15908 None None None None None None ADAM28|0.028862647|69.97%
View cds 3404_16 8 rs7814768
dbSNP Clinvar 		24211331 3070.0 G A PASS 1/1 65 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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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs199517433
dbSNP Clinvar 		39111997 223.0 G A PASS 0/1 36 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%
View cds 3404_16 8 rs7845771
dbSNP Clinvar 		39080632 3070.0 C G PASS 1/1 71 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%

ADAM7
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 cds 3404_16 8 rs13255694
dbSNP Clinvar 		24339679 3070.0 G A PASS 1/1 76 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 cds 3404_16 8 rs13277171
dbSNP Clinvar 		24359068 1468.0 G A PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.26478 0.26480 0.26265 None None None None None None ADAM7|0.013206563|78.36%
View cds 3404_16 8 rs13259668
dbSNP Clinvar 		24356818 1730.0 A C PASS 1/1 40 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%

ADAMDEC1
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 cds 3404_16 8 rs3765124
dbSNP Clinvar 		24261526 2301.0 A G PASS 1/1 57 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 cds 3404_16 8 rs2291577
dbSNP Clinvar 		24256470 2747.0 C T PASS 1/1 73 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
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs6599528
dbSNP Clinvar 		145603114 652.0 A C PASS 0/1 64 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 cds 3404_16 8 rs148509143,rs563415390
dbSNP Clinvar 		145617534 738.0 TG... T PASS 0/1 0 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
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs12547243
dbSNP Clinvar 		131921956 1669.0 A G PASS 0/1 66 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%
View cds 3404_16 8 rs2228950
dbSNP Clinvar 		132002770 1088.0 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.31030 0.31030 0.32024 None None None None None None ADCY8|0.569570608|13.01%

ADHFE1
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 cds 3404_16 8 rs1060242
dbSNP Clinvar 		67380528 831.0 T C PASS 0/1 38 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
 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 cds 3404_16 8 rs1048101
dbSNP Clinvar 		26628028 3070.0 A G PASS 1/1 81 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%

AGO2
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 cds 3404_16 8 rs2293939
dbSNP Clinvar 		141551407 1683.0 G A PASS 0/1 70 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs2916747
dbSNP Clinvar 		6371291 512.0 A G PASS 0/1 69 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17532 0.17530 0.13440 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%
View cds 3404_16 8 rs3020221
dbSNP Clinvar 		6378763 486.0 C T PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.30970 0.30970 0.36529 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%

ANK1
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 cds 3404_16 8 rs2304880
dbSNP Clinvar 		41559609 222.0 G A PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.18071 0.18070 0.19622 None None None None None None ANK1|0.956309863|2.07%
View cds 3404_16 8 rs1137177
dbSNP Clinvar 		41563685 275.0 G A PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.18091 0.18090 0.19637 None None None None None None ANK1|0.956309863|2.07%
View cds 3404_16 8 rs2304871
dbSNP Clinvar 		41585438 1839.0 G A PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.22844 0.22840 0.24965 None None None None None None ANK1|0.956309863|2.07%
View cds 3404_16 8 rs750625
dbSNP Clinvar 		41525914 622.0 C T PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.19469 0.19470 0.23120 None None None None None None ANK1|0.956309863|2.07%
View cds 3404_16 8 rs504574
dbSNP Clinvar 		41553928 163.0 C G PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.40715 0.40710 0.36285 None None None None None None ANK1|0.956309863|2.07%

ANXA13
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs2294013
dbSNP Clinvar 		124710729 931.0 C T PASS 1/1 28 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 cds 3404_16 8 rs2294015
dbSNP Clinvar 		124696867 1129.0 C T PASS 1/1 43 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs2234911
dbSNP Clinvar 		143695144 748.0 G A PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.47025 None None None None None None ARC|0.130590354|45.8%

ARHGEF10
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 cds 3404_16 8 rs4875950
dbSNP Clinvar 		1806229 928.0 A C PASS 0/1 168 SYNONYMOUS_CODING LOW None 0.30571 0.30570 0.29756 None None None None None None ARHGEF10|0.010635325|80.42%

ASAH1
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 cds 3404_16 8 rs3753115
dbSNP Clinvar 		17930772 338.0 C T PASS 0/1 52 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 cds 3404_16 8 rs1071645
dbSNP Clinvar 		17928811 332.0 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 cds 3404_16 8 rs1049874
dbSNP Clinvar 		17927327 278.0 T C PASS 0/1 52 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 cds 3404_16 8 rs10103355
dbSNP Clinvar 		17918934 2791.0 A G PASS 1/1 61 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%

ASH2L
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 cds 3404_16 8 rs2843740
dbSNP Clinvar 		37985897 3070.0 A G PASS 1/1 65 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs16927574
dbSNP Clinvar 		62489334 183.0 C T PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.13059 0.13060 0.08796 None None None None None None ASPH|0.124407055|46.75%
View cds 3404_16 8 rs145678786
dbSNP Clinvar 		62577838 1108.0 T C PASS 0/1 140 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 cds 3404_16 8 rs148064193
dbSNP Clinvar 		62555454 412.0 C T PASS 0/1 24 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs7009365
dbSNP Clinvar 		104054603 250.0 T C PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.07628 0.07628 0.07128 None None None None None None ATP6V1C1|0.410709354|20.15%

BAI1
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 cds 3404_16 8 rs75573695
dbSNP Clinvar 		143599594 311.0 C T PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.04932 0.04932 0.03028 None None None None None None ADGRB1|0.079978463|55.17%
View cds 3404_16 8 rs7460600
dbSNP Clinvar 		143603418 2036.0 G C PASS 1/1 29 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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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs1871900
dbSNP Clinvar 		22481449 980.0 A G PASS 0/1 40 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs3816668
dbSNP Clinvar 		11406593 652.0 T C PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.49031 None None None None None None BLK|0.095762795|51.98%
View cds 3404_16 8 rs2306234
dbSNP Clinvar 		11414237 1013.0 T C PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.82768 0.82770 0.18753 None None None None None None BLK|0.095762795|51.98%

BMP1
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 cds 3404_16 8 rs61729094
dbSNP Clinvar 		22059323 301.0 C T PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.03554 0.03554 0.01768 None None None None None None BMP1|0.631090407|10.73%

C8orf34
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs2289831
dbSNP Clinvar 		69434195 469.0 T C PASS 0/1 56 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs6474226
dbSNP Clinvar 		40011079 3070.0 G A PASS 1/1 77 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs10096353
dbSNP Clinvar 		13424767 466.0 C G PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.01338 0.01338 0.01095 0.09 0.20 None None None None None None C8orf48|0.002033946|90.89%
View cds 3404_16 8 rs13273355
dbSNP Clinvar 		13424583 2060.0 C T PASS 0/1 76 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 cds 3404_16 8 rs11203497
dbSNP Clinvar 		13425353 3070.0 T A PASS 1/1 67 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%

C8orf59
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 cds 3404_16 8 rs112611553
dbSNP Clinvar 		86126827 3070.0 C CA... PASS 1/1 0 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs11250058
dbSNP Clinvar 		10530218 884.0 C T PASS 1/1 20 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%
View cds 3404_16 8 rs61742975
dbSNP Clinvar 		10555189 355.0 C T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.07568 0.07568 0.06670 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%
View cds 3404_16 8 rs57041981
dbSNP Clinvar 		10557760 311.0 A G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.24780 0.24780 0.18981 1.00 0.00 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%

C8orf87
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 cds 3404_16 8 rs115051890
dbSNP Clinvar 		94146616 185.0 A G PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.01997 0.01997 None None None None None None C8orf87|0.001906946|91.22%

CA2
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 cds 3404_16 8 rs703
dbSNP Clinvar 		86389403 1673.0 T C PASS 1/1 57 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs20571
dbSNP Clinvar 		86351997 2346.0 G A PASS 1/1 78 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs7464181
dbSNP Clinvar 		61178574 1933.0 T C PASS 0/1 43 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs6558165
dbSNP Clinvar 		22473224 517.0 T C PASS 0/1 60 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs10108752
dbSNP Clinvar 		25323777 3070.0 T C PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.95547 0.95550 0.04598 None None None None None None CDCA2|0.009449627|81.34%
View cds 3404_16 8 rs4872318
dbSNP Clinvar 		25364331 3070.0 G A PASS 1/1 85 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs1051624
dbSNP Clinvar 		95143172 1082.0 T G PASS 0/1 37 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%
View cds 3404_16 8 rs1051623
dbSNP Clinvar 		95143186 1773.0 C G PASS 0/1 35 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 cds 3404_16 8 rs1131830
dbSNP Clinvar 		95158382 1405.0 C T PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.43151 0.43150 0.45541 None None None None None None CDH17|0.034427264|67.65%
View cds 3404_16 8 rs2243518
dbSNP Clinvar 		95188850 1168.0 T C PASS 0/1 48 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%

CHMP4C
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 cds 3404_16 8 rs35094336
dbSNP Clinvar 		82670771 132.0 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.04173 0.04173 0.05421 0.01 0.90 None None None None None None CHMP4C|0.143717477|43.91%

CHRNA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 8 rs891398
dbSNP Clinvar 		27324822 1012.0 T C PASS 1/1 49 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%

CLU
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 cds 3404_16 8 rs7982
dbSNP Clinvar 		27462481 1126.0 A G PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.66454 0.66450 0.40212 None None None None None None CLU|0.219123407|34.47%

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 cds 3404_16 8 rs6471482
dbSNP Clinvar 		87679303 2902.0 A C PASS 1/1 59 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 cds 3404_16 8 rs3735972
dbSNP Clinvar 		87588198 1015.0 T C PASS 0/1 102 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 cds 3404_16 8 rs3735970
dbSNP Clinvar 		87588248 708.0 T C PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.08227 0.08227 0.07843 None None None None None None CNGB3|0.068013081|57.91%
View cds 3404_16 8 rs4961206
dbSNP Clinvar 		87666251 1379.0 T G PASS 1/1 38 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%

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 cds 3404_16 8 rs2305598
dbSNP Clinvar 		121210069 864.0 T C PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.63439 0.63440 0.42465 None None None None None None COL14A1|0.765229358|6.75%
View cds 3404_16 8 rs61753754
dbSNP Clinvar 		121239515 364.0 G A PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.02057 0.02057 0.01799 None None None None None None COL14A1|0.765229358|6.75%
View cds 3404_16 8 rs114236859
dbSNP Clinvar 		121292257 621.0 G A PASS 0/1 78 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 cds 3404_16 8 rs2305600
dbSNP Clinvar 		121215991 787.0 T C PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.63838 0.63840 0.43165 None None None None None None COL14A1|0.765229358|6.75%
View cds 3404_16 8 rs4870723
dbSNP Clinvar 		121228679 925.0 A C PASS 0/1 71 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%

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 cds 3404_16 8 rs2292927
dbSNP Clinvar 		139838912 2168.0 T C PASS 1/1 36 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 cds 3404_16 8 rs9644500
dbSNP Clinvar 		139697478 381.0 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.57867 0.57870 0.45648 None None None None None None COL22A1|0.06710202|58.12%
View cds 3404_16 8 rs10101430
dbSNP Clinvar 		139824057 2724.0 G A PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.48063 0.48060 0.49646 None None None None None None COL22A1|0.06710202|58.12%
View cds 3404_16 8 rs10091563
dbSNP Clinvar 		139647262 2316.0 A G PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.26534 None None None None None None COL22A1|0.06710202|58.12%
View cds 3404_16 8 rs4909444
dbSNP Clinvar 		139701209 2419.0 G T PASS 0/1 57 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 cds 3404_16 8 rs1130569
dbSNP Clinvar 		100899793 443.0 G A PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.24940 0.24940 0.28480 None None None None None None COX6C|0.106176668|49.96%

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 cds 3404_16 8 rs2304789
dbSNP Clinvar 		87567193 267.0 C T PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.21286 0.21290 0.31678 0.19 0.15 None None None None None None CPNE3|0.341445337|24.73%,CNGB3|0.068013081|57.91%
View cds 3404_16 8 rs10956871
dbSNP Clinvar 		87540872 1063.0 G A PASS 0/1 44 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 cds 3404_16 8 rs61741750
dbSNP Clinvar 		97892059 597.0 C T PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.03435 0.03435 0.03691 None None None None None None CPQ|0.160118797|41.51%
View cds 3404_16 8 rs149981793
dbSNP Clinvar 		97797399 701.0 T G PASS 0/1 58 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 cds 3404_16 8 rs7840421
dbSNP Clinvar 		98041659 496.0 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.02137 0.02137 0.02253 None None None None None None CPQ|0.160118797|41.51%

CPSF1
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 cds 3404_16 8 rs4317614
dbSNP Clinvar 		145623963 455.0 G A PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.45907 0.45910 0.32616 None None None None None None CPSF1|0.315599788|26.38%

CSGALNACT1
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 cds 3404_16 8 rs7017776
dbSNP Clinvar 		19362768 3070.0 C T PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.75479 0.75480 0.25780 0.91 0.00 None None None None None None CSGALNACT1|0.134495825|45.18%

CSMD1
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 cds 3404_16 8 rs35125470
dbSNP Clinvar 		3047495 1716.0 G C PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.06729 0.06729 0.06663 None None None None None None CSMD1|0.119480951|47.53%
View cds 3404_16 8 rs115991247
dbSNP Clinvar 		2824246 529.0 G C PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.00559 0.00559 0.00524 None None None None None None CSMD1|0.119480951|47.53%
View cds 3404_16 8 rs4876056
dbSNP Clinvar 		2820043 461.0 G T PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.12740 0.12740 0.10867 None None None None None None CSMD1|0.119480951|47.53%
View cds 3404_16 8 rs667859
dbSNP Clinvar 		2820745 977.0 G C PASS 0/1 33 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.36771 None None None None None None CSMD1|0.119480951|47.53%
View cds 3404_16 8 rs61743149
dbSNP Clinvar 		2831983 607.0 G C PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.00879 0.00879 0.00732 None None None None None None CSMD1|0.119480951|47.53%
View cds 3404_16 8 rs77697616
dbSNP Clinvar 		2831986 621.0 C A PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.00879 0.00879 0.00772 None None None None None None CSMD1|0.119480951|47.53%
View cds 3404_16 8 rs667595
dbSNP Clinvar 		2832139 1348.0 C G PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.75100 0.75100 0.20028 None None None None None None CSMD1|0.119480951|47.53%
View cds 3404_16 8 rs6558703
dbSNP Clinvar 		2910020 2626.0 A G PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.98263 0.98260 0.01646 None None None None None None CSMD1|0.119480951|47.53%
View cds 3404_16 8 rs3824271
dbSNP Clinvar 		2965244 2056.0 T C PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.83966 0.83970 0.21177 None None None None None None CSMD1|0.119480951|47.53%
View cds 3404_16 8 rs28455997
dbSNP Clinvar 		3076959 1510.0 T C PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.07947 0.07947 0.09763 0.73 0.00 None None None None None None CSMD1|0.119480951|47.53%
View cds 3404_16 8 rs4875703
dbSNP Clinvar 		3224561 352.0 T C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.28514 0.28510 0.25289 None None None None None None CSMD1|0.119480951|47.53%
View cds 3404_16 8 rs3802303
dbSNP Clinvar 		3253768 1266.0 C T PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.29972 0.29970 0.38278 None None None None None None CSMD1|0.119480951|47.53%