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Genes:
ADAM28, ADAM32, ADAM7, ADAM9, ADAMDEC1, ADCY8, ADRA1A, AGO2, ANGPT2, ANK1, ANXA13, ARC, ARHGAP39, ARHGEF10, ASAH1, ASAP1, ASH2L, AZIN1, BAI1, BIN3, BLK, BMP1, C8orf31, C8orf34, C8orf4, C8orf44, C8orf48, C8orf59, C8orf74, C8orf82, C8orf87, CA2, CA3, CA8, CDCA2, CDH17, CHD7, CHMP4C, CLDN23, CLU, CNGB3, COL22A1, COMMD5, COX6C, CPQ, CSMD1, CSMD3, CTHRC1, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, DCAF13, DEFB136, DENND3, DEPTOR, DKK4, DLC1, DLGAP2, DOCK5, DOK2, DPYSL2, DSCC1, DUSP4, EEF1D, EFR3A, ENPP2, ENTPD4, ERI1, ERICH1, EXT1, EXTL3, EYA1, FAM135B, FAM167A, FAM49B, FAM83H, FAM91A1, FBXO16, FBXO25, FBXO43, FDFT1, FER1L6, FGF20, FGL1, FZD3, FZD6, GATA4, GDAP1, GFRA2, GLI4, GNRH1, GPAA1, GPIHBP1, GPR20, GPT, GRINA, GSDMC, GSDMD, HGSNAT, HHLA1, HNF4G, IDO2, IMPAD1, INTS8, KCNB2, KCNK9, KCNS2, KCNU1, KCTD9, KIAA1429, KIAA1456, KIF13B, KIFC2, KLHL38, LOXL2, LPL, LRRC14, LRRC6, LRRC69, LY6D, LY6H, LY6K, LYNX1, LZTS1, MAF1, MAK16, MAPK15, MATN2, MBOAT4, MCM4, MCPH1, MED30, MFHAS1, MFSD3, MOS, MROH1, MROH5, MROH6, MSR1, MTBP, MTMR7, MTMR9, MTUS1, MYOM2, NAPRT1, NAT2, NDUFAF6, NEFM, NKAIN3, NKX2-6, NOV, NRG1, NSMAF, NUDCD1, NUDT18, NUGGC, ODF1, OPLAH, OTUD6B, OXR1, PAG1, PARP10, PBK, PCM1, PCMTD1, PDE7A, PDGFRL, PDLIM2, PEBP4, PEX2, PHF20L1, PHYHIP, PINX1, PKHD1L1, PLAG1, PLEC, PLEKHA2, POLR3D, POMK, POP1, POU5F1B, PPP1R3B, PREX2, PRKDC, PRSS55, PSD3, PSKH2, PTK2, PTK2B, PXDNL, PYCRL, R3HCC1, RAB11FIP1, RAD54B, RB1CC1, RECQL4, RHOBTB2, RIMS2, RNF122, RNF139, RP1, RP1L1, RPS20, RSPO2, SAMD12, SBSPON, SCARA5, SCRIB, SDC2, SGK223, SH2D4A, SHARPIN, SLC10A5, SLC18A1, SLC25A37, SLC26A7, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC7A2, SLCO5A1, SNTG1, SNX31, SORBS3, SOX7, SPAG1, SPAG11A, SPAG11B, SPATC1, ST18, ST3GAL1, STAR, STAU2, SYBU, TAF2, TBC1D31, TDRP, TEX15, TG, TGS1, THEM6, TIGD5, TMEM66, TMEM67, TMEM71, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOX, TRAPPC9, TRIB1, TRMT12, TSPYL5, TSTA3, TTI2, UBXN2B, USP17L2, VPS13B, VPS37A, WRN, XKR9, XPO7, ZC2HC1A, ZFAT, ZFHX4, ZFPM2, ZNF16, ZNF250, ZNF517, ZNF623, ZNF7, ZNF705G, ZNF707,

Genes at Omim

ADAM9, ANK1, ARHGEF10, ASAH1, BLK, BMP1, CA2, CA8, CHD7, CNGB3, CTHRC1, CTSB, CYC1, CYP11B1, CYP11B2, DLC1, EXT1, EXTL3, EYA1, FAM83H, FDFT1, FGF20, FZD6, GATA4, GDAP1, GNRH1, GPAA1, GPIHBP1, HGSNAT, IMPAD1, KCNK9, LPL, LRRC6, LZTS1, MCM4, MCPH1, MFHAS1, MSR1, NAT2, NDUFAF6, NKX2-6, NRG1, OPLAH, OTUD6B, PDGFRL, PEX2, PLAG1, POMK, POP1, PRKDC, RAD54B, RB1CC1, RECQL4, RHOBTB2, RNF139, RP1, RP1L1, RSPO2, SAMD12, SLC39A14, SLC39A4, SPAG1, STAR, TAF2, TEX15, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TTI2, VPS13B, VPS37A, ZFHX4, ZFPM2,
ADAM9 Cone-rod dystrophy 9, 612775 (3)
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)
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)
CHD7 CHARGE syndrome, 214800 (3)
Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (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)
DLC1 Colorectal cancer, somatic, 114500 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
EXTL3 Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (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)
GATA4 Atrial septal defect 2, 607941 (3)
Atrioventricular septal defect 4, 614430 (3)
?Testicular anomalies with or without congenital heart disease, 615542 (3)
Tetralogy of Fallot, 187500 (3)
Ventricular septal defect 1, 614429 (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)
GNRH1 ?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3)
GPAA1 Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3)
GPIHBP1 Hyperlipoproteinemia, type 1D, 615947 (3)
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Retinitis pigmentosa 73, 616544 (3)
IMPAD1 Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3)
KCNK9 Birk-Barel mental retardation dysmorphism syndrome, 612292 (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)
LZTS1 Esophageal squamous cell carcinoma, somatic, 133239 (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)
NAT2 [Acetylation, slow], 243400 (3)
NDUFAF6 Mitochondrial complex I deficiency, nuclear type 17, 618239 (3)
NKX2-6 Conotruncal heart malformations, 217095 (3)
Persistent truncus arteriosus, 217095 (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)
PLAG1 Adenomas, salivary gland pleomorphic, somatic, 181030 (3)
POMK Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)
?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3)
POP1 Anauxetic dysplasia 2, 617396 (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)
RNF139 Renal cell carcinoma, 144700 (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)
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)
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

ADAM9, ANK1, ARHGEF10, ASAH1, BLK, BMP1, CA2, CA8, CHD7, CNGB3, CTHRC1, CYC1, CYP11B1, CYP11B2, EXT1, EYA1, FAM83H, FGF20, FZD6, GATA4, GDAP1, GNRH1, GPIHBP1, HGSNAT, IMPAD1, KCNK9, LPL, LRRC6, MCM4, MCPH1, MSR1, NAT2, NDUFAF6, NKX2-6, OPLAH, PEX2, PLEC, POMK, PRKDC, RB1CC1, RECQL4, RNF139, RP1, RP1L1, SLC39A4, STAR, TAF2, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TTI2, VPS13B, VPS37A, WRN, ZFPM2,
ADAM9 Cone-rod dystrophy 9
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
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
CHD7 CHARGE syndrome
Hypogonadotropic hypogonadism 5 with or without anosmia
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
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
GATA4 Atrioventricular septal defect 4
Ventricular septal defect 1
Atrial septal defect 2
Testicular anomalies with or without congenital heart disease
Tetralogy of Fallot
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
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GPIHBP1 Hyperlipoproteinemia, type ID
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
Retinitis pigmentosa 73
IMPAD1 Chondrodysplasia with joint dislocations, GPAPP type
KCNK9 Birk-Barel mental retardation dysmorphism 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
NDUFAF6 Mitochondrial complex I deficiency
Leigh syndrome
NKX2-6 Persistent truncus arteriosus
Conotruncal heart malformations
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
POMK Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A, 12
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type C, 12
Muscle-eye brain disease
Walker-Warburg syndrome
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RB1CC1 Schizophrenia
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RNF139 Renal cell carcinoma, clear cell
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
TNFRSF10B Squamous cell carcinoma, head and neck
TNFRSF11B Paget disease of bone 5, juvenile
TRAPPC9 Mental retardation, autosomal recessive 13
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: 1307
Number of Genes: 280

Export to: CSV

ADAM28

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 allfamilies BIQ 8 rs7009516
dbSNP Clinvar
24208847 247.685 G A PASS 0/1 81 None None None 0.56370 0.56370 0.46356 None None None None None None ADAM28|0.028862647|69.97%
View allfamilies BIQ 8 rs7814768
dbSNP Clinvar
24211331 1254.7 G A PASS 1/1 46 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 allfamilies BIQ 8 rs7845771
dbSNP Clinvar
39080632 1338.31 C G PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.95827 0.95830 0.03848 1.00 0.00 None None None None None None ADAM32|0.008880265|81.76%
View allfamilies BIQ 8 rs59118660
dbSNP Clinvar
38965271 3815.73 C T PASS 1/1 409 START_GAINED LOW None 0.43790 0.43790 0.33230 None None None None None None ADAM32|0.008880265|81.76%

ADAM7

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 allfamilies BIQ 8 rs13259668
dbSNP Clinvar
24356818 1457.3 A C PASS 1/1 155 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 allfamilies BIQ 8 rs13277171
dbSNP Clinvar
24359068 928.472 G A PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.26478 0.26480 0.26265 None None None None None None ADAM7|0.013206563|78.36%
View allfamilies BIQ 8 rs13255694
dbSNP Clinvar
24339679 254.962 G A PASS 1/1 26 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%

ADAM9

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 allfamilies BIQ 8 rs148707472
dbSNP Clinvar
38854660 3559.59 C A PASS 1/1 374 SYNONYMOUS_CODING LOW None 0.02196 0.02196 0.03892 None None None None None None ADAM9|0.066355581|58.29%

ADAMDEC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 allfamilies BIQ 8 rs2291577
dbSNP Clinvar
24256470 1057.47 C T PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.29293 0.29290 0.34269 None None None None None None ADAMDEC1|0.01425096|77.67%
View allfamilies BIQ 8 rs3765124
dbSNP Clinvar
24261526 667.673 A G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.29493 0.29490 0.34453 0.09 0.10 None None None None None None ADAMDEC1|0.01425096|77.67%

ADCY8

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 allfamilies BIQ 8 rs12547243
dbSNP Clinvar
131921956 1373.39 A G PASS 0/1 155 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%

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 allfamilies BIQ 8 rs1048101
dbSNP Clinvar
26628028 2837.01 A G PASS 0/1 258 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs2271738
dbSNP Clinvar
141566311 3753.27 C T PASS 1/1 410 SYNONYMOUS_CODING LOW None 0.44928 0.44930 0.34753 None None None None None None AGO2|0.736134544|7.47%
View allfamilies BIQ 8 rs2292781
dbSNP Clinvar
141559358 1548.01 G A PASS 1/1 164 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%
View allfamilies BIQ 8 rs2292778
dbSNP Clinvar
141568622 1385.52 G A PASS 1/1 145 SYNONYMOUS_CODING LOW None 0.65555 0.65560 0.37175 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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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs3020221
dbSNP Clinvar
6378763 267.064 C T PASS 1/1 27 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%
View allfamilies BIQ 8 rs6559167
dbSNP Clinvar
6389889 1239.76 C A,G PASS 1/1 133 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%
View allfamilies BIQ 8 rs1961222
dbSNP Clinvar
6377433 786.226 C T PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.14976 0.14980 0.24381 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
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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 allfamilies BIQ 8 rs2304871
dbSNP Clinvar
41585438 2895.32 G A PASS 0/1 311 SYNONYMOUS_CODING LOW None 0.22844 0.22840 0.24965 None None None None None None ANK1|0.956309863|2.07%
View allfamilies BIQ 8 rs504574
dbSNP Clinvar
41553928 391.434 C G PASS 0/1 129 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 allfamilies BIQ 8 rs2294013
dbSNP Clinvar
124710729 1431.26 C T PASS 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.29479 0.12 0.01 None None None None None None ANXA13|0.222416197|34.14%
View allfamilies BIQ 8 rs2294015
dbSNP Clinvar
124696867 1161.02 C T PASS 0/1 124 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs2234911
dbSNP Clinvar
143695144 1163.87 G A PASS 0/1 446 SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.47025 None None None None None None ARC|0.130590354|45.8%
View allfamilies BIQ 8 rs28686812
dbSNP Clinvar
143694775 2019.22 G C PASS 0/1 207 SYNONYMOUS_CODING LOW None 0.50060 0.50060 0.49477 None None None None None None ARC|0.130590354|45.8%

ARHGAP39

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 allfamilies BIQ 8 rs873884
dbSNP Clinvar
145756170 1624.88 G A PASS 1/1 173 SYNONYMOUS_CODING LOW None 0.38698 0.38700 0.49083 None None None None None None ARHGAP39|0.083072421|54.56%

ARHGEF10

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 allfamilies BIQ 8 rs2272611
dbSNP Clinvar
1876631 739.122 C T PASS 0/1 293 SYNONYMOUS_CODING LOW None 0.14437 0.14440 0.13655 None None None None None None ARHGEF10|0.010635325|80.42%
View allfamilies BIQ 8 rs4875950
dbSNP Clinvar
1806229 615.256 A C PASS 0/1 97 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs10103355
dbSNP Clinvar
17918934 1735.55 A G PASS 1/1 164 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%
View allfamilies BIQ 8 rs1071645
dbSNP Clinvar
17928811 712.127 C T PASS 1/1 45 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 allfamilies BIQ 8 rs1049874
dbSNP Clinvar
17927327 1067.56 T C PASS 1/1 97 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 allfamilies BIQ 8 rs3753115
dbSNP Clinvar
17930772 1546.61 C T PASS 1/1 112 None None None 0.41354 0.41350 0.42394 0.33 0.00 None None None None None None ASAH1|0.03988949|65.81%

ASAP1

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 allfamilies BIQ 8 rs966185
dbSNP Clinvar
131124559 2774.08 T C PASS 0/1 221 NON_SYNONYMOUS_CODING MODERATE None 0.47444 0.47440 0.39866 0.86 0.00 None None None None None None ASAP1|0.438507149|18.75%

ASH2L

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 allfamilies BIQ 8 rs2843740
dbSNP Clinvar
37985897 1855.44 A G PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.84804 0.84800 0.08396 None None None None None None ASH2L|0.428566452|19.21%

AZIN1

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 allfamilies BIQ 8 rs2304347
dbSNP Clinvar
103845372 320.542 G A PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.05152 0.05152 0.00438 None None None None None None AZIN1|0.715198945|8.12%
View allfamilies BIQ 8 rs1062048
dbSNP Clinvar
103851052 238.67 T C PASS 0/1 114 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs7460600
dbSNP Clinvar
143603418 2109.68 G C PASS 1/1 221 SYNONYMOUS_CODING LOW None 0.90375 0.90380 0.09007 None None None None None None ADGRB1|0.079978463|55.17%
View allfamilies BIQ 8 . 143625671 362.281 C A PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.47 0.22 None None None None None None ADGRB1|0.079978463|55.17%

BIN3

Omim - GeneCards - NCBI
Options Individual Chr
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs11550509
dbSNP Clinvar
22526559 948.89 G A PASS 1/1 99 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09884 0.09884 0.18878 None None None None None None BIN3|0.312765796|26.64%
View allfamilies BIQ 8 rs1871900
dbSNP Clinvar
22481449 618.45 A G PASS 0/1 102 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs3816668
dbSNP Clinvar
11406593 503.449 T C PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.49031 None None None None None None BLK|0.095762795|51.98%

BMP1

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 allfamilies BIQ 8 rs2229777
dbSNP Clinvar
22054197 140.341 T C PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.12999 0.13000 0.10772 None None None None None None BMP1|0.631090407|10.73%

C8orf31

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 allfamilies BIQ 8 rs11136300
dbSNP Clinvar
144124609 1193.09 T C PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.33292 0.06 0.00 None None None None None None C8orf31|0.000375865|99.11%

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 allfamilies BIQ 8 rs16935065
dbSNP Clinvar
69699756 604.732 G A PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.16833 0.16830 0.18294 0.13 0.09 None None None None None None C8orf34|0.356828577|23.69%

C8orf4

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 allfamilies BIQ 8 rs6474226
dbSNP Clinvar
40011079 861.34 G A PASS 1/1 47 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%

C8orf44

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 allfamilies BIQ 8 rs1057463
dbSNP Clinvar
67592152 388.49 T C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.21845 0.21850 0.22597 0.00 0.82 None None None None None None C8orf44-SGK3|0.813852292|5.49%,C8orf44|0.001520789|92.66%

C8orf48

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 allfamilies BIQ 8 rs13273355
dbSNP Clinvar
13424583 2255.34 C T PASS 0/1 152 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 allfamilies BIQ 8 rs11203497
dbSNP Clinvar
13425353 942.79 T A PASS 1/1 80 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs112611553
dbSNP Clinvar
86126827 562.21 C CA... PASS 1/1 36 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
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs11250058
dbSNP Clinvar
10530218 1476.55 C T PASS 1/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.99241 0.99240 0.00008 0.33 0.02 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%
View allfamilies BIQ 8 rs61729951
dbSNP Clinvar
10532188 227.402 T C PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.00459 0.00459 0.01491 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%

C8orf82

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs11557085
dbSNP Clinvar
145752900 388.58 C T PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.39417 0.39420 None None None None None None C8orf82|0.009303358|81.44%

C8orf87

Omim - GeneCards - NCBI
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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 allfamilies BIQ 8 rs13267247
dbSNP Clinvar
94146656 486.88 G T PASS 0/1 204 NON_SYNONYMOUS_CODING MODERATE None 0.23163 0.23160 0.00 0.77 None None None None None None C8orf87|0.001906946|91.22%

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 allfamilies BIQ 8 rs703
dbSNP Clinvar
86389403 1044.9 T C PASS 1/1 115 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
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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 allfamilies BIQ 8 rs20571
dbSNP Clinvar
86351997 1158.43 G A PASS 1/1 109 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
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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 allfamilies BIQ 8 rs7464181
dbSNP Clinvar
61178574 1338.32 T C PASS 0/1 99 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CDCA2

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 allfamilies BIQ 8 rs3829009
dbSNP Clinvar
25364834 157.155 A T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.19249 0.19250 0.19168 0.20 0.05 None None None None None None CDCA2|0.009449627|81.34%
View allfamilies BIQ 8 rs10108752
dbSNP Clinvar
25323777 555.783 T C PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.95547 0.95550 0.04598 None None None None None None CDCA2|0.009449627|81.34%
View allfamilies BIQ 8 rs4872318
dbSNP Clinvar
25364331 478.982 G A PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.22644 0.22640 0.25750 0.01 0.64 None None None None None None CDCA2|0.009449627|81.34%
View allfamilies BIQ 8 rs6990278
dbSNP Clinvar
25364960 168.975 A G PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.19249 0.19250 0.19207 None None None None None None CDCA2|0.009449627|81.34%

CDH17

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 allfamilies BIQ 8 rs1131830
dbSNP Clinvar
95158382 812.79 C T PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.43151 0.43150 0.45541 None None None None None None CDH17|0.034427264|67.65%
View allfamilies BIQ 8 rs1051623
dbSNP Clinvar
95143186 1028.97 C G PASS 0/1 88 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 allfamilies BIQ 8 rs2243518
dbSNP Clinvar
95188850 2090.25 T C PASS 1/1 214 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 allfamilies BIQ 8 rs1051624
dbSNP Clinvar
95143172 952.32 T G PASS 0/1 86 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
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RsId
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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 allfamilies BIQ 8 rs2272727
dbSNP Clinvar
61769195 140.568 A G PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.03195 0.03195 0.04422 None None None None None None CHD7|0.942578768|2.4%

CHMP4C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 allfamilies BIQ 8 rs62514262
dbSNP Clinvar
82670412 260.544 G A PASS 0/1 160 SYNONYMOUS_CODING LOW None 0.01837 0.01837 0.03522 None None None None None None CHMP4C|0.143717477|43.91%

CLDN23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs12548737
dbSNP Clinvar
8560536 200.247 G A PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.11362 0.11360 0.07852 0.01 0.88 None None None None None None CLDN23|0.024207428|72.13%
View allfamilies BIQ 8 rs2280560
dbSNP Clinvar
8560602 166.649 C T PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.29553 0.29550 0.19371 0.59 0.04 None None None None None None CLDN23|0.024207428|72.13%

CLU

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs7982
dbSNP Clinvar
27462481 1948.55 A G PASS 1/1 202 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 allfamilies BIQ 8 rs4961206
dbSNP Clinvar
87666251 1132.34 T G PASS 0/1 58 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%
View allfamilies BIQ 8 rs6471482
dbSNP Clinvar
87679303 1628.14 A C PASS 1/1 133 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%

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 allfamilies BIQ 8 rs4131277
dbSNP Clinvar
139642974 101.109 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.26198 0.26200 0.22359 None None None None None None COL22A1|0.06710202|58.12%
View allfamilies BIQ 8 rs4909444
dbSNP Clinvar
139701209 2095.81 G T PASS 1/1 223 NON_SYNONYMOUS_CODING MODERATE None 0.29173 0.29170 0.31447 0.00 None None None None None None COL22A1|0.06710202|58.12%
View allfamilies BIQ 8 rs10091563
dbSNP Clinvar
139647262 1244.8 A G PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.26534 None None None None None None COL22A1|0.06710202|58.12%
View allfamilies BIQ 8 rs2292927
dbSNP Clinvar
139838912 2780.41 T C PASS 1/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.83147 0.83150 0.17069 0.00 None None None None None None COL22A1|0.06710202|58.12%

COMMD5

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 allfamilies BIQ 8 rs1209879
dbSNP Clinvar
146076708 669.8 C T PASS 0/1 333 NON_SYNONYMOUS_CODING MODERATE None 0.26837 0.26840 0.27472 0.23 0.00 None None None None None None COMMD5|0.015195338|77.01%,ZNF250|0.008654168|81.98%

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 allfamilies BIQ 8 rs1130569
dbSNP Clinvar
100899793 33.0386 G A PASS 0/1 7 SYNONYMOUS_CODING LOW None 0.24940 0.24940 0.28480 None None None None None None COX6C|0.106176668|49.96%

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 allfamilies BIQ 8 rs1864384
dbSNP Clinvar
97847358 149.759 G T PASS 0/1 6 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.43618 None None None None None None CPQ|0.160118797|41.51%

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 allfamilies BIQ 8 rs667595
dbSNP Clinvar
2832139 554.69 C G PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.75100 0.75100 0.20028 None None None None None None CSMD1|0.119480951|47.53%
View allfamilies BIQ 8 rs17417724
dbSNP Clinvar
4494905 327.45 T C PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.02117 0.02117 0.04469 None None None None None None CSMD1|0.119480951|47.53%
View allfamilies BIQ 8 . 3351193 182.434 G A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.98 None None None None None None CSMD1|0.119480951|47.53%
View allfamilies BIQ 8 rs10088378
dbSNP Clinvar
3265590 1248.33 C T PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.60304 0.60300 0.32955 None None None None None None CSMD1|0.119480951|47.53%
View allfamilies BIQ 8 rs4875703
dbSNP Clinvar
3224561 1254.7 T C PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.28514 0.28510 0.25289 None None None None None None CSMD1|0.119480951|47.53%
View allfamilies BIQ 8 rs73183587
dbSNP Clinvar
3072107 269.89 G C PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.06829 0.06829 0.09492 None None None None None None CSMD1|0.119480951|47.53%
View allfamilies BIQ 8 rs3824271
dbSNP Clinvar
2965244 846.587 T C PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.83966 0.83970 0.21177 None None None None None None CSMD1|0.119480951|47.53%
View allfamilies BIQ 8 rs6558703
dbSNP Clinvar
2910020 992.63 A G PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.98263 0.98260 0.01646 None None None None None None CSMD1|0.119480951|47.53%
View allfamilies BIQ 8 rs6558702
dbSNP Clinvar
2909992 882.272 G A PASS 1/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.69289 0.69290 0.26894 0.00 None None None None None None CSMD1|0.119480951|47.53%

CSMD3

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 allfamilies BIQ 8 rs12155677
dbSNP Clinvar
113484935 773.395 C T PASS 1/1 61 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03474 0.03474 0.06420 None None None None None None CSMD3|0.744731001|7.23%
View allfamilies BIQ 8 rs61753736
dbSNP Clinvar
113253954 196.808 A G PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.00998 0.00998 0.01799 0.11 0.34 None None None None None None CSMD3|0.744731001|7.23%

CTHRC1

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 8 rs3098233
dbSNP Clinvar
104394744 1525.21 T C PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.74461 0.74460 0.21698 None None None None None None CTHRC1|0.186760424|38.19%

CTSB

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 allfamilies BIQ 8 rs13332
dbSNP Clinvar
11706581 2106.53 T G PASS 1/1 218 SYNONYMOUS_CODING LOW None 0.07308 0.07308 0.34999 None None None None None None CTSB|0.202646008|36.44%
View allfamilies BIQ 8 rs12338
dbSNP Clinvar
11710888 3035.22 G C PASS 1/1 373 NON_SYNONYMOUS_CODING MODERATE None 0.39597 0.39600 0.36237 0.00 0.06 None None None None None None CTSB|0.202646008|36.44%

CYC1

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 allfamilies BIQ 8 rs7820984
dbSNP Clinvar
145150832 1518.29 A G PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.96286 0.96290 0.04484 0.49 0.00 None None None None None None CYC1|0.107950243|49.59%

CYHR1

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 allfamilies BIQ 8 rs2721167
dbSNP Clinvar
145689915 3312.29 G A PASS 1/1 305 None None None 0.91414 0.91410 0.03423 None None None None None None CYHR1|0.053470471|61.63%

CYP11B1

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 allfamilies BIQ 8 rs6410
dbSNP Clinvar
143961005 144.77 T C PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.58407 0.58410 0.49231 None None None None None None GML|0.000127964|99.9%,CYP11B1|0.016882471|75.94%
View allfamilies BIQ 8 rs61752766
dbSNP Clinvar
143957246 323.979 T C PASS 0/1 219 NON_SYNONYMOUS_CODING MODERATE None 0.00280 0.00280 0.00261 1.00 0.00 None None None None None None GML|0.000127964|99.9%,CYP11B1|0.016882471|75.94%
View allfamilies BIQ 8 rs5283
dbSNP Clinvar
143960597 547.18 G A PASS 0/1 194 SYNONYMOUS_CODING LOW None 0.30272 0.30270 0.32831 None None None None None None GML|0.000127964|99.9%,CYP11B1|0.016882471|75.94%

CYP11B2

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 allfamilies BIQ 8 rs4536
dbSNP Clinvar
143995761 3788.33 C T PASS 1/1 294 SYNONYMOUS_CODING LOW None 0.82348 0.82350 0.03068 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View allfamilies BIQ 8 rs4546
dbSNP Clinvar
143996553 347.68 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.34545 0.34540 0.37548 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View allfamilies BIQ 8 rs4539
dbSNP Clinvar
143996539 341.33 T C PASS 0/1 62 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%

DCAF13

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 allfamilies BIQ 8 rs3134295
dbSNP Clinvar
104427359 116.19 A C PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.42832 0.42830 0.46217 0.00 None None None None None None SLC25A32|0.240512461|32.38%,DCAF13|0.575698411|12.79%