SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
AC016885.1, AC023632.1, AC138647.1, ADAM18, ADAM28, ADAM32, ADAM7, ADAMDEC1, ADCK5, ADCY8, ADHFE1, ADRA1A, AGO2, AGPAT5, ANGPT2, ANK1, ANXA13, ARC, ARHGEF10, ARMC1, ASAH1, ASAP1, ASH2L, AZIN1, BAI1, BIN3, BLK, BMP1, C8orf31, C8orf4, C8orf44, C8orf48, C8orf49, C8orf56, C8orf59, C8orf74, C8orf82, CA2, CA3, CA8, CCAR2, CDCA2, CDH17, CLU, CNBD1, CNGB3, CNOT7, COL14A1, COL22A1, COMMD5, COX6C, CPA6, CPNE3, CPQ, CPSF1, CRH, CSGALNACT1, CSMD1, CSMD3, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, DCAF13, DCSTAMP, DEFB104A, DEFB106A, DEFB107A, DEFB136, DEFB4B, DENND3, DLC1, DLGAP2, DOCK5, DOK2, DPYSL2, DSCC1, E2F5, EEF1D, EFR3A, ELP3, ENPP2, EPHX2, EPPK1, ERI1, ERICH1, ESCO2, ESRP1, EXT1, EXTL3, EYA1, FAM135B, FAM160B2, FAM167A, FAM83H, FAM86B1, FAM86B2, FAM91A1, FAM92A1, FBXO16, FBXO25, FBXO32, FDFT1, FER1L6, FGF20, FUT10, FZD3, GDAP1, GEM, GFRA2, GGH, GLI4, GML, GPIHBP1, GPR124, GPR20, GPT, GRINA, GSDMC, GSDMD, HGSNAT, HHLA1, HNF4G, HOOK3, HR, HTRA4, IDO2, INTS8, KAT6A, KB-1507C5.2, KCNK9, KCNU1, KIAA1429, KIAA1456, KIAA1875, KIFC2, KLF10, KLHL38, LACTB2, LAPTM4B, LOXL2, LRRC14, LRRC24, LRRC6, LRRC69, LRRCC1, LY6K, LY96, LYNX1, LYPD2, LZTS1, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCPH1, MFHAS1, MOS, MROH1, MROH5, MROH6, MSR1, MSRA, MTBP, MTMR7, MTMR9, MTUS1, MYOM2, NAPRT1, NAT2, NBN, NDUFB9, NEFM, NIPAL2, NKAIN3, NKX6-3, NRBP2, NRG1, NSMAF, NUDCD1, NUDT18, NUGGC, ODF1, OPLAH, OPRK1, OTUD6B, OXR1, PABPC1, PAG1, PBK, PCM1, PCMTD1, PDGFRL, PDLIM2, PEX2, PHF20L1, PHYHIP, PINX1, PKHD1L1, PLAG1, PLAT, PLEC, PLEKHA2, PNMA2, POLR3D, POU5F1B, PRDM14, PREX2, PRKDC, PRR23D1, PRSS55, PSCA, PSD3, PTK2, PTK2B, PXDNL, PYCRL, R3HCC1, RAB11FIP1, RAB2A, RAD54B, RB1CC1, RBM12B, RECQL4, RHOBTB2, RMDN1, RNF122, RNF139, RP1, RP11-10J21.3, RP11-386G21.2, RP11-422N16.3, RP11-521M14.2, RP1L1, RPS20, RSPO2, SAMD12, SBSPON, SCARA3, SCARA5, SCRIB, SCRT1, SDC2, SFRP1, SFTPC, SGK223, SH2D4A, SHARPIN, SLC10A5, SLC18A1, SLC20A2, SLC25A32, SLC25A37, SLC30A8, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC7A13, SLC7A2, SNX31, SORBS3, SPAG1, SPAG11A, SPAG11B, ST3GAL1, STAR, STAU2, TAF2, TATDN1, TBC1D31, TDRP, TEX15, TG, TGS1, TIGD5, TMEM249, TMEM66, TMEM67, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TP53INP1, TRAPPC9, TRIB1, TRMT12, TRPA1, TRPS1, TSPYL5, TTI2, UBXN2B, UQCRB, USP17L2, UTP23, VPS13B, VPS37A, WDYHV1, WRN, XPO7, ZBTB10, ZC2HC1A, ZC3H3, ZFAT, ZFHX4, ZFP41, ZHX2, ZNF16, ZNF250, ZNF34, ZNF395, ZNF517, ZNF623, ZNF696, ZNF7, ZNF704, ZNF705D, ZNF705G, ZNF707,

Genes at Omim

ANK1, ARHGEF10, ASAH1, BLK, BMP1, CA2, CA8, CNGB3, CPA6, CTSB, CYC1, CYP11B1, CYP11B2, DLC1, EPHX2, ESCO2, ESRP1, EXT1, EXTL3, EYA1, FAM83H, FDFT1, FGF20, GDAP1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, LRRC6, LZTS1, MAFA, MCM4, MCPH1, MFHAS1, MSR1, NAT2, NBN, NDUFB9, NRG1, OPLAH, OTUD6B, PDGFRL, PEX2, PLAG1, PLAT, PRKDC, RAD54B, RB1CC1, RECQL4, RHOBTB2, RNF139, RP1, RP1L1, RSPO2, SAMD12, SFTPC, SLC20A2, SLC25A32, SLC30A8, SLC39A14, SLC39A4, SPAG1, STAR, TAF2, TEX15, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TRPS1, TTI2, UQCRB, 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)
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)
CNGB3 Achromatopsia 3, 262300 (3)
Macular degeneration, juvenile, 248200 (3)
CPA6 Febrile seizures, familial, 11, 614418 (3)
Epilepsy, familial temporal lobe, 5, 614417 (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)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
ESCO2 Roberts syndrome, 268300 (3)
SC phocomelia syndrome, 269000 (3)
ESRP1 ?Deafness, autosomal recessive 109, 618013 (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)
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)
LRRC6 Ciliary dyskinesia, primary, 19, 614935 (3)
LZTS1 Esophageal squamous cell carcinoma, somatic, 133239 (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)
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)
PLAG1 Adenomas, salivary gland pleomorphic, somatic, 181030 (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)
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)
SFTPC Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
SLC20A2 Basal ganglia calcification, idiopathic, 1, 213600 (3)
SLC25A32 ?Exercise intolerance, riboflavin-responsive, 616839 (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)
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)
TRPA1 ?Episodic pain syndrome, familial, 1, 615040 (3)
TRPS1 Trichorhinophalangeal syndrome, type I, 190350 (3)
Trichorhinophalangeal syndrome, type III, 190351 (3)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
UQCRB Mitochondrial complex III deficiency, nuclear type 3, 615158 (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, BLK, BMP1, CA2, CA8, CNGB3, CPA6, CYC1, CYP11B1, CYP11B2, ESCO2, EXT1, EYA1, FAM83H, FGF20, GDAP1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, LRRC6, MCM4, MCPH1, MSR1, NAT2, NBN, OPLAH, PEX2, PLEC, PRKDC, RB1CC1, RECQL4, RNF139, RP1, RP1L1, SFTPC, SLC20A2, SLC25A32, SLC39A4, STAR, TAF2, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TRPS1, TTI2, UQCRB, 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
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
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
ESCO2 SC phocomelia syndrome
Roberts syndrome
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
KAT6A Mental retardation, autosomal dominant 32
KCNK9 Birk-Barel mental retardation dysmorphism syndrome
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
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
SFTPC Surfactant metabolism dysfunction, pulmonary, 2
SLC20A2 Basal ganglia calcification, idiopathic, 1
SLC25A32 Exercise intolerance, riboflavin-responsive
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
TRPS1 Trichorhinophalangeal syndrome, type I
Trichorhinophalangeal syndrome, type III
TTI2 Mental retardation, autosomal recessive 39
UQCRB Mitochondrial complex III deficiency
VPS13B Cohen syndrome
VPS37A Spastic paraplegia 53, autosomal recessive
WRN Werner syndrome

Genes at HGMD

Summary

Number of Variants: 16978
Number of Genes: 328

Export to: CSV
  • Page 1 of 170

AC016885.1

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 variant_list 8 rs278562
dbSNP Clinvar
94242350 54.0866 A G . 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.54094 0.54090 0.10 0.40 None None None None None None None

AC023632.1

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 variant_list 8 rs3133651
dbSNP Clinvar
95559092 2664.63 T C . 1/1 82 SYNONYMOUS_CODING LOW None 0.68171 0.68170 None None None None None None KIAA1429|0.455751702|17.88%

AC138647.1

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 variant_list 8 rs142246389
dbSNP Clinvar
142528752 2.92795 A G . 0/1 11 SYNONYMOUS_CODING LOW None 0.09665 0.09665 None None None None None None None

ADAM18

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 variant_list 8 rs12708194
dbSNP Clinvar
39496029 258.776 T C . 0/1 15 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View variant_list 8 rs7009516
dbSNP Clinvar
24208847 517.953 G A . 0/1 43 None None None 0.56370 0.56370 0.46356 None None None None None None ADAM28|0.028862647|69.97%
View variant_list 8 rs7814768
dbSNP Clinvar
24211331 1315.61 G A . 1/1 44 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View variant_list 8 rs7845771
dbSNP Clinvar
39080632 2161.55 C G . 1/1 69 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%

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 variant_list 8 rs13255694
dbSNP Clinvar
24339679 2.38943 G A . 0/1 10 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 variant_list 8 rs12547971
dbSNP Clinvar
24350715 256.435 G A . 0/1 20 SYNONYMOUS_CODING LOW None 0.05391 0.05391 0.07067 None None None None None None ADAM7|0.013206563|78.36%
View variant_list 8 rs13259668
dbSNP Clinvar
24356818 448.934 A C . 0/1 47 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 variant_list 8 rs13277171
dbSNP Clinvar
24359068 619.395 G A . 0/1 63 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
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View variant_list 8 rs2291577
dbSNP Clinvar
24256470 778.448 C T . 0/1 70 SYNONYMOUS_CODING LOW None 0.29293 0.29290 0.34269 None None None None None None ADAMDEC1|0.01425096|77.67%
View variant_list 8 rs3765124
dbSNP Clinvar
24261526 1466.33 A G . 0/1 108 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%

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 variant_list 8 . 145617534 0.513502 TG... TG . 0/1 9 None None None None None None None None None ADCK5|0.009712798|81.05%
View variant_list 8 rs6599528
dbSNP Clinvar
145603114 441.646 A C . 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.63239 0.63240 0.45824 0.82 0.00 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 variant_list 8 rs2228949
dbSNP Clinvar
132052342 0.248493 C T . 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.01797 0.01797 0.02209 0.56 0.00 None None None None None None ADCY8|0.569570608|13.01%
View variant_list 8 rs12547243
dbSNP Clinvar
131921956 534.704 A G . 0/1 53 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 variant_list 8 rs12545028
dbSNP Clinvar
131922027 652.803 T G . 0/1 61 SYNONYMOUS_CODING LOW None 0.10483 0.10480 0.15393 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 variant_list 8 rs1060242
dbSNP Clinvar
67380528 2442.86 T C . 1/1 78 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View variant_list 8 rs529601875
dbSNP Clinvar
26716633 660.961 A G . 0/1 78 None None None 0.00319 0.00320 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 variant_list 8 rs2271738
dbSNP Clinvar
141566311 928.017 C T . 0/1 34 SYNONYMOUS_CODING LOW None 0.44928 0.44930 0.34753 None None None None None None AGO2|0.736134544|7.47%
View variant_list 8 rs2292778
dbSNP Clinvar
141568622 1672.03 G A . 1/1 57 SYNONYMOUS_CODING LOW None 0.65555 0.65560 0.37175 None None None None None None AGO2|0.736134544|7.47%
View variant_list 8 rs2292781
dbSNP Clinvar
141559358 1110.33 G A . 1/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%

AGPAT5

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 variant_list 8 rs62497278
dbSNP Clinvar
6566351 709.73 C G . 0/1 60 SYNONYMOUS_CODING LOW None 0.12460 0.12460 0.05528 None None None None None None AGPAT5|0.083981086|54.43%

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 variant_list 8 rs6559167
dbSNP Clinvar
6389889 1587.98 C G . 1/1 51 SYNONYMOUS_CODING LOW None 0.28974 0.28970 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 variant_list 8 rs1137177
dbSNP Clinvar
41563685 88.2797 G A . 0/1 18 SYNONYMOUS_CODING LOW None 0.18091 0.18090 0.19637 None None None None None None ANK1|0.956309863|2.07%
View variant_list 8 rs2304873
dbSNP Clinvar
41583294 22.0009 C T . 0/1 9 SYNONYMOUS_CODING LOW None 0.10503 0.10500 0.10208 None None None None None None ANK1|0.956309863|2.07%
View variant_list 8 rs7816734
dbSNP Clinvar
41547748 242.101 G A . 0/1 23 SYNONYMOUS_CODING LOW None 0.18730 0.18730 0.19260 None None None None None None ANK1|0.956309863|2.07%
View variant_list 8 rs2304880
dbSNP Clinvar
41559609 557.717 G A . 0/1 49 SYNONYMOUS_CODING LOW None 0.18071 0.18070 0.19622 None None None None None None ANK1|0.956309863|2.07%
View variant_list 8 rs750625
dbSNP Clinvar
41525914 1233.66 C T . 0/1 102 SYNONYMOUS_CODING LOW None 0.19469 0.19470 0.23120 None None None None None None ANK1|0.956309863|2.07%
View variant_list 8 . 41753872 39.6553 CC... CC... . 0/1 18 None None None None None None None None None ANK1|0.956309863|2.07%
View variant_list 8 rs504574
dbSNP Clinvar
41553928 336.311 C G . 0/1 28 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
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 variant_list 8 rs2294013
dbSNP Clinvar
124710729 798.215 C T . 0/1 85 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%

ARC

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 variant_list 8 rs2234911
dbSNP Clinvar
143695144 455.061 G A . 0/1 40 SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.47025 None None None None None None ARC|0.130590354|45.8%
View variant_list 8 rs28686812
dbSNP Clinvar
143694775 1253.4 G C . 0/1 50 SYNONYMOUS_CODING LOW None 0.50060 0.50060 0.49477 None None None None None None ARC|0.130590354|45.8%

ARHGEF10

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 variant_list 8 rs4875950
dbSNP Clinvar
1806229 321.167 A C . 0/1 41 SYNONYMOUS_CODING LOW None 0.30571 0.30570 0.29756 None None None None None None ARHGEF10|0.010635325|80.42%
View variant_list 8 rs9657362
dbSNP Clinvar
1833801 310.867 G C . 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.16833 0.16830 0.10810 0.18 0.95 None None None None None None ARHGEF10|0.010635325|80.42%
View variant_list 8 rs12681485
dbSNP Clinvar
1846688 808.257 C T . 0/1 64 SYNONYMOUS_CODING LOW None 0.08407 0.08407 0.03545 None None None None None None ARHGEF10|0.010635325|80.42%
View variant_list 8 rs2272613
dbSNP Clinvar
1873540 531.956 C T . 0/1 33 SYNONYMOUS_CODING LOW None 0.10643 0.10640 0.04529 None None None None None None ARHGEF10|0.010635325|80.42%
View variant_list 8 rs3735876
dbSNP Clinvar
1905132 724.646 G A . 0/1 55 SYNONYMOUS_CODING LOW None 0.36801 0.36800 0.34561 None None None None None None ARHGEF10|0.010635325|80.42%

ARMC1

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 variant_list 8 rs11559265
dbSNP Clinvar
66525548 311.081 T C . 0/1 16 SYNONYMOUS_CODING LOW None 0.25619 0.25620 0.24912 None None None None None None ARMC1|0.549639557|13.74%

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 variant_list 8 rs2472205
dbSNP Clinvar
17924739 130.569 A T . 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.02276 0.02276 0.03437 0.35 0.00 None None None None None None ASAH1|0.03988949|65.81%
View variant_list 8 rs1049874
dbSNP Clinvar
17927327 104.808 T C . 0/1 15 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 variant_list 8 rs1071645
dbSNP Clinvar
17928811 170.134 C T . 0/1 26 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 variant_list 8 rs3753115
dbSNP Clinvar
17930772 299.622 C T . 0/1 34 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 variant_list 8 rs10103355
dbSNP Clinvar
17918934 1323.28 A G . 1/1 43 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View variant_list 8 rs966185
dbSNP Clinvar
131124559 975.513 T C . 1/1 33 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
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 variant_list 8 rs2843740
dbSNP Clinvar
37985897 1286.36 A G . 1/1 41 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
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 variant_list 8 rs1062048
dbSNP Clinvar
103851052 417.386 T C . 0/1 44 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 variant_list 8 rs7460600
dbSNP Clinvar
143603418 408.025 G C . 1/1 13 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
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View variant_list 8 rs1871900
dbSNP Clinvar
22481449 268.734 A G . 0/1 10 SYNONYMOUS_CODING LOW None 0.49720 0.49720 0.45654 None None None None None None BIN3|0.312765796|26.64%
View variant_list 8 rs900268
dbSNP Clinvar
22482851 746.273 A C . 1/1 23 None None None 0.99121 0.99120 0.00 0.89 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 variant_list 8 rs3816668
dbSNP Clinvar
11406593 449.674 T C . 0/1 37 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.49031 None None None None None None BLK|0.095762795|51.98%
View variant_list 8 rs2306234
dbSNP Clinvar
11414237 961.131 T C . 1/1 32 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
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View variant_list 8 rs61729094
dbSNP Clinvar
22059323 83.5861 C T . 0/1 20 SYNONYMOUS_CODING LOW None 0.03554 0.03554 0.01768 None None None None None None BMP1|0.631090407|10.73%

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 variant_list 8 rs11136300
dbSNP Clinvar
144124609 1581.04 T C . 1/1 58 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%

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 variant_list 8 rs6474226
dbSNP Clinvar
40011079 2033.29 G A . 1/1 62 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View variant_list 8 rs6983214
dbSNP Clinvar
67590460 594.005 C T . 0/1 63 None None None 0.21825 0.21830 0.00 0.00 None None None None None None C8orf44-SGK3|0.813852292|5.49%,C8orf44|0.001520789|92.66%
View variant_list 8 rs1057463
dbSNP Clinvar
67592152 1117.33 T C . 0/1 95 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View variant_list 8 rs13273355
dbSNP Clinvar
13424583 540.531 C T . 0/1 50 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 variant_list 8 rs11203497
dbSNP Clinvar
13425353 2032.72 T A . 1/1 62 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 variant_list 8 rs2740431
dbSNP Clinvar
11619261 2010.56 T A . 1/1 64 SYNONYMOUS_CODING LOW None 0.94329 0.94330 None None None None None None C8orf49|0.001687308|91.93%
View variant_list 8 rs811966
dbSNP Clinvar
11619334 1124.64 C T . 0/1 89 SYNONYMOUS_CODING LOW None 0.69828 0.69830 None None None None None None C8orf49|0.001687308|91.93%
View variant_list 8 rs36018280
dbSNP Clinvar
11619397 1087.0 G A . 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.11741 0.11740 0.60 0.01 None None None None None None C8orf49|0.001687308|91.93%
View variant_list 8 rs804285
dbSNP Clinvar
11618998 88.7733 G C . 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.97344 0.97340 1.00 0.00 None None None None None None C8orf49|0.001687308|91.93%

C8orf56

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 variant_list 8 rs62527602
dbSNP Clinvar
104145561 472.829 C T . 0/1 44 SYNONYMOUS_CODING LOW None 0.03215 0.03215 None None None None None None BAALC-AS2|0.000474634|98.56%

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 variant_list 8 . 86126827 636.214 CA CA... . 1/1 24 CODON_INSERTION MODERATE None 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 variant_list 8 rs11250058
dbSNP Clinvar
10530218 827.401 C T . 1/1 27 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%

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 variant_list 8 rs11557085
dbSNP Clinvar
145752900 215.103 C T . 1/1 7 SYNONYMOUS_CODING LOW None 0.39417 0.39420 None None None None None None C8orf82|0.009303358|81.44%

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 variant_list 8 rs703
dbSNP Clinvar
86389403 1263.03 T C . 0/1 46 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 variant_list 8 rs20571
dbSNP Clinvar
86351997 956.942 G A . 0/1 72 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 variant_list 8 rs7464181
dbSNP Clinvar
61178574 819.294 T C . 1/1 29 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 variant_list 8 rs7843828
dbSNP Clinvar
22463623 505.895 C T . 0/1 53 SYNONYMOUS_CODING LOW None 0.30351 0.30350 0.31170 None None None None None None CCAR2|0.363674682|23.18%
View variant_list 8 rs3736147
dbSNP Clinvar
22471824 1269.14 G A . 0/1 100 SYNONYMOUS_CODING LOW None 0.26937 0.26940 0.26273 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 variant_list 8 rs10108752
dbSNP Clinvar
25323777 1241.99 T C . 1/1 40 SYNONYMOUS_CODING LOW None 0.95547 0.95550 0.04598 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 variant_list 8 . 95186475 4.72334e-05 C A . 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.22 None None None None None None CDH17|0.034427264|67.65%
View variant_list 8 rs1051623
dbSNP Clinvar
95143186 1385.87 C G . 1/1 45 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 variant_list 8 . 95186473 4.72334e-05 T A . 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.10 None None None None None None CDH17|0.034427264|67.65%
View variant_list 8 . 95186478 0.00885576 G A . 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None CDH17|0.034427264|67.65%
View variant_list 8 rs35792427
dbSNP Clinvar
95161102 560.209 G A . 0/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12680 0.12680 0.09995 None None None None None None CDH17|0.034427264|67.65%
View variant_list 8 rs1131830
dbSNP Clinvar
95158382 398.469 C T . 0/1 37 SYNONYMOUS_CODING LOW None 0.43151 0.43150 0.45541 None None None None None None CDH17|0.034427264|67.65%
View variant_list 8 rs3214050
dbSNP Clinvar
95186382 501.228 G A . 1/1 16 SYNONYMOUS_CODING LOW None 0.34585 0.34580 0.39013 None None None None None None CDH17|0.034427264|67.65%
View variant_list 8 rs2251734
dbSNP Clinvar
95158259 1151.13 G A . 0/1 75 SYNONYMOUS_CODING LOW None 0.31210 0.31210 0.32731 None None None None None None CDH17|0.034427264|67.65%
View variant_list 8 rs2243518
dbSNP Clinvar
95188850 800.796 T C . 1/1 25 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 variant_list 8 rs1051624
dbSNP Clinvar
95143172 551.188 T G . 0/1 48 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%

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 variant_list 8 rs7982
dbSNP Clinvar
27462481 376.942 A G . 0/1 35 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 variant_list 8 rs9694259
dbSNP Clinvar
88622043 787.529 T G . 1/1 26 None None None 0.79713 0.79710 0.00 0.00 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 variant_list 8 rs564759960
dbSNP Clinvar
87645107 59.0107 T C . 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00 0.86 None None None None None None CNGB3|0.068013081|57.91%
View variant_list 8 rs6471482
dbSNP Clinvar
87679303 1013.21 A C . 1/1 31 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 variant_list 8 rs4961206
dbSNP Clinvar
87666251 688.036 T G . 0/1 52 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 variant_list 8 rs2959606
dbSNP Clinvar
17092164 3361.13 G T . 1/1 106 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 variant_list 8 rs4870723
dbSNP Clinvar
121228679 969.901 A C . 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.59006 0.59010 0.48401 0.01 0.45 None None None None None None COL14A1|0.765229358|6.75%
View variant_list 8 rs2305600
dbSNP Clinvar
121215991 234.536 T C . 0/1 23 SYNONYMOUS_CODING LOW None 0.63838 0.63840 0.43165 None None None None None None COL14A1|0.765229358|6.75%
View variant_list 8 rs2305598
dbSNP Clinvar
121210069 641.483 T C . 0/1 57 SYNONYMOUS_CODING LOW None 0.63439 0.63440 0.42465 None None None None None None COL14A1|0.765229358|6.75%
View variant_list 8 rs4463470
dbSNP Clinvar
121383048 1594.33 T C . 1/1 56 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 variant_list 8 rs4131277
dbSNP Clinvar
139642974 464.417 T C . 0/1 35 SYNONYMOUS_CODING LOW None 0.26198 0.26200 0.22359 None None None None None None COL22A1|0.06710202|58.12%
View variant_list 8 rs10091563
dbSNP Clinvar
139647262 913.113 A G . 1/1 28 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.26534 None None None None None None COL22A1|0.06710202|58.12%
View variant_list 8 rs9644500
dbSNP Clinvar
139697478 588.979 T C . 0/1 48 SYNONYMOUS_CODING LOW None 0.57867 0.57870 0.45648 None None None None None None COL22A1|0.06710202|58.12%
View variant_list 8 rs10111520
dbSNP Clinvar
139749799 280.052 G T . 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.04792 0.04792 0.05251 0.00 None None None None None None COL22A1|0.06710202|58.12%
View variant_list 8 rs10101430
dbSNP Clinvar
139824057 56.7567 G A . 0/1 9 SYNONYMOUS_CODING LOW None 0.48063 0.48060 0.49646 None None None None None None COL22A1|0.06710202|58.12%
  • Page 1 of 170