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:
ABHD12, ACSS2, ADA, ADAM33, ADNP, ADRA1D, ADRM1, ANGPT4, ANKEF1, ANKRD60, ARFGEF2, ARFRP1, ARHGAP40, ATP9A, ATRN, BANF2, BCAS1, BFSP1, BIRC7, BMP2, BPI, BPIFA3, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf166, C20orf194, C20orf196, C20orf201, C20orf26, CABLES2, CASS4, CBFA2T2, CCM2L, CD93, CDC25B, CDH26, CDH4, CHGB, CHRNA4, COL20A1, COL9A3, CPXM1, CRNKL1, CSRP2BP, CST1, CST3, CST5, CST8, CST9, CST9L, CSTL1, CTCFL, CTSZ, CYP24A1, DBNDD2, DDRGK1, DDX27, DEFB125, DEFB127, DEFB128, DEFB129, DHX35, DIDO1, DNTTIP1, DUSP15, DZANK1, EBF4, EEF1A2, EFCAB8, ELMO2, ENTPD6, EPPIN, ESF1, EYA2, FAM110A, FAM209B, FAM65C, FAM83C, FAM83D, FERMT1, FITM2, FOXA2, GCNT7, GFRA4, GGT7, GINS1, GMEB2, GNAS, GZF1, HELZ2, HRH3, HSPA12B, IFT52, ITPA, JAG1, JPH2, KCNG1, KCNK15, KCNQ2, KCNS1, KIAA1755, KIF16B, LAMA5, LBP, LPIN3, LRRN4, LZTS3, MACROD2, MATN4, MAVS, MCM8, MGME1, MMP9, MROH8, MTG2, MYBL2, MYH7B, NCOA3, NCOA6, NECAB3, NFATC2, NINL, NKAIN4, NOP56, NPBWR2, NPEPL1, NSFL1C, OPRL1, PABPC1L, PCK1, PDYN, PI3, PIGT, PLCB1, PLCB4, PLCG1, POFUT1, POLR3F, PPP1R16B, PREX1, PRND, PRNP, PRNT, PROKR2, PSMA7, PSMF1, PTGIS, PTPN1, PTPRT, PXMP4, PYGB, R3HDML, RAD21L1, RALGAPA2, RBBP8NL, RBPJL, RIN2, RPN2, RRBP1, RSPO4, RTEL1, RTFDC1, SALL4, SCP2D1, SDCBP2, SEL1L2, SEMG1, SEMG2, SIGLEC1, SIRPB1, SIRPB2, SIRPD, SIRPG, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A4RG, SLC52A3, SLC9A8, SLCO4A1, SMOX, SNPH, SNX21, SNX5, SOGA1, SPATA2, SPTLC3, SRC, SRSF6, SS18L1, SSTR4, STK4, STX16, SULF2, SUN5, TAF4, TCF15, TCFL5, TGM3, TGM6, TMC2, TMEM189-UBE2V1, TMX4, TNFRSF6B, TNNC2, TRIB3, TRMT6, TRPC4AP, TSHZ2, TTLL9, TTPAL, TUBB1, UBOX5, UQCC1, WFDC10A, WFDC10B, WFDC3, WFDC5, WFDC9, WISP2, ZBP1, ZCCHC3, ZFP64, ZGPAT, ZMYND8, ZNF217, ZNF334, ZNF335, ZNF341, ZNF512B, ZNF831, ZNFX1, ZSWIM3,

Genes at Omim

ABHD12, ADA, ADNP, ARFGEF2, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CYP24A1, DDRGK1, EEF1A2, ELMO2, FERMT1, GINS1, GNAS, GZF1, IFT52, ITPA, JAG1, JPH2, KCNQ2, MCM8, MGME1, MMP9, NOP56, PCK1, PDYN, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PTGIS, PTPN1, RIN2, RSPO4, RTEL1, SALL4, SLC12A5, SLC17A9, SLC52A3, SRC, STK4, STX16, SUN5, TGM3, TGM6, TUBB1, ZNF335, ZNF341,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADNP Helsmoortel-van der Aa syndrome, 615873 (3)
ARFGEF2 Periventricular heterotopia with microcephaly, 608097 (3)
BFSP1 Cataract 33, multiple types, 611391 (3)
BMP2 {HFE hemochromatosis, modifier of}, 235200 (3)
Brachydactyly, type A2, 112600 (3)
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3)
CHRNA4 {Nicotine addiction, susceptibility to}, 188890 (3)
Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
COL9A3 {Intervertebral disc disease, susceptibility to}, 603932 (3)
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
CST3 Cerebral amyloid angiopathy, 105150 (3)
{Macular degeneration, age-related, 11}, 611953 (3)
CYP24A1 Hypercalcemia, infantile, 1, 143880 (3)
DDRGK1 Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3)
EEF1A2 Epileptic encephalopathy, early infantile, 33, 616409 (3)
Mental retardation, autosomal dominant 38, 616393 (3)
ELMO2 Vascular malformation, primary intraosseous, 606893 (3)
FERMT1 Kindler syndrome, 173650 (3)
GINS1 Immunodeficiency 55, 617827 (3)
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
GZF1 Joint laxity, short stature, and myopia, 617662 (3)
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
ITPA Epileptic encephalopathy, early infantile, 35, 616647 (3)
[Inosine triphosphatase deficiency], 613850 (3)
JAG1 Alagille syndrome 1, 118450 (3)
?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3)
Tetralogy of Fallot, 187500 (3)
JPH2 Cardiomyopathy, hypertrophic, 17, 613873 (3)
KCNQ2 Epileptic encephalopathy, early infantile, 7, 613720 (3)
Myokymia, 121200 (3)
Seizures, benign neonatal, 1, 121200 (3)
MCM8 ?Premature ovarian failure 10, 612885 (3)
MGME1 Mitochondrial DNA depletion syndrome 11, 615084 (3)
MMP9 Metaphyseal anadysplasia 2, 613073 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PDYN Spinocerebellar ataxia 23, 610245 (3)
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
PLCB4 Auriculocondylar syndrome 2, 614669 (3)
POFUT1 Dowling-Degos disease 2, 615327 (3)
PRNP Gerstmann-Straussler disease, 137440 (3)
{Kuru, susceptibility to}, 245300 (3)
Cerebral amyloid angiopathy, PRNP-related, 137440 (3)
Huntington disease-like 1, 603218 (3)
Creutzfeldt-Jakob disease, 123400 (3)
Insomnia, fatal familial, 600072 (3)
Prion disease with protracted course, 606688 (3)
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
PTGIS Hypertension, essential, 145500 (3)
PTPN1 {Insulin resistance, susceptibility to}, 125853 (3)
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
RSPO4 Anonychia congenita, 206800 (3)
RTEL1 Dyskeratosis congenita, autosomal dominant 4, 615190 (3)
Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)
SALL4 IVIC syndrome, 147750 (3)
Duane-radial ray syndrome, 607323 (3)
SLC12A5 Epileptic encephalopathy, early infantile, 34, 616645 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)
SLC17A9 Porokeratosis 8, disseminated superficial actinic type, 616063 (3)
SLC52A3 Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
?Fazio-Londe disease, 211500 (3)
SRC Colon cancer, advanced, somatic, 114500 (3)
?Thrombocytopenia 6, 616937 (3)
STK4 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)
STX16 Pseudohypoparathyroidism, type IB, 603233 (3)
SUN5 Spermatogenic failure 16, 617187 (3)
TGM3 ?Uncombable hair syndrome 2, 617251 (3)
TGM6 Spinocerebellar ataxia 35, 613908 (3)
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
ZNF335 Microcephaly 10, primary, autosomal recessive, 615095 (3)
ZNF341 Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3)

Genes at Clinical Genomics Database

ABHD12, ADA, ADNP, ARFGEF2, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CYP24A1, EEF1A2, FERMT1, GNAS, ITPA, JAG1, JPH2, KCNQ2, MCM8, MGME1, MMP9, NOP56, PDYN, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, RIN2, RSPO4, RTEL1, SALL4, SLC12A5, SLC17A9, SLC52A3, SRC, STK4, STX16, TGM6, TUBB1, ZNF335,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ADNP Helsmoortel-van der Aa syndrome (Mental retardation, autosomal dominant 28)
ARFGEF2 Heterotopia, periventricular, autosomal recessive
BFSP1 Cataract, cortical, juvenile-onset
BMP2 Brachydactyly, type A2
CHRNA4 Epilepsy, nocturnal frontal lobe, type 1
COL9A3 Epiphyseal dysplasia, multiple, 3
CST3 Cerebral amyloid angiopathy
CYP24A1 1,25(OH)(2)D-24-hydroxylase deficiency
EEF1A2 Epileptic encephalopathy, early infantile, 33
Mental retardation, autosomal dominant 28
FERMT1 Kindler syndrome
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
ITPA Inosine triphosphatase deficiency
JAG1 Alagille syndrome
JPH2 Cardiomyopathy, familial hypertrophic 17
KCNQ2 Epileptic encephalopathy, early infantile, 7
Benign familial neonatal seizures, 1
Myokymia
MCM8 Premature ovarian failure 10
MGME1 Mitochondrial DNA depletion syndrome 11
MMP9 Metaphyseal anadysplasia 2
NOP56 Spinocerebellar ataxia 36
PDYN Spinocerebellar ataxia 23
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB1 Epileptic encephalopathy, early infantile, 12
PLCB4 Auriculocondylar syndrome 2
POFUT1 Dowling-Degos disease 2
PRNP Spongiform encephalopathy with neuropsychiatric features
Huntington disease-like 1
Gerstmann-Straussler disease
Creutzfeldt-Jakob disease
Insomnia, fatal familial
Dementia, Lewy body
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
RSPO4 Anonychia/hyponychia congenita
RTEL1 Pulmonary fibrosis and/or bone marrow failure, telomere-related 3
Dyskeratosis congenita, autosomal dominant 4
Dyskeratosis congenita, autosomal recessive 5
SALL4 Duane-radial ray/Okohiro syndrome
Acro-Renal-Ocular syndrome
SLC12A5 Epileptic encephalopathy, early infantile, 34
SLC17A9 Porokeratosis, disseminated superficial actinic, 8
SLC52A3 Brown-Vialetto-Van Laere syndrome 1
Fazio-Londe disease
SRC Thrombocytopenia, autosomal dominant, 6
STK4 T-cell immunodeficiency syndrome, recurrent infections, autoimmunity, with or without cardiac malformations
STX16 Pseudohypoparathyroidism, type IB
TGM6 Spinocerebellar ataxia 35
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related
ZNF335 Microcephaly 10, primary, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 808
Number of Genes: 237

Export to: CSV

ABHD12

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 24_genetics_snv_99 8 slt 20 rs10966
dbSNP Clinvar
25282944 1873.77 A G PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.54153 0.54150 0.44141 None None None None None None ABHD12|0.092039068|52.8%
View 24_genetics_snv_99 8 slt 20 rs6107027
dbSNP Clinvar
25288632 1023.77 G A PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.33606 0.33610 0.43465 None None None None None None ABHD12|0.092039068|52.8%

ACSS2

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 24_genetics_snv_99 8 slt 20 rs4911163
dbSNP Clinvar
33470694 896.77 C T PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.51218 0.51220 0.43434 None None None None None None ACSS2|0.488270454|16.4%

ADA

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 24_genetics_snv_99 8 slt 20 rs394105
dbSNP Clinvar
43264927 2581.77 C T PASS 1/1 88 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADAM33

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 24_genetics_snv_99 8 slt 20 rs2280090
dbSNP Clinvar
3650205 1600.77 G A PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.14437 0.14440 0.13559 0.10 0.01 None None None None None None ADAM33|0.021575059|73.4%
View 24_genetics_snv_99 8 slt 20 rs528557
dbSNP Clinvar
3651742 1622.77 C G PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.38778 0.38780 0.38944 None None None None None None ADAM33|0.021575059|73.4%
View 24_genetics_snv_99 8 slt 20 rs2271511
dbSNP Clinvar
3654433 1064.77 C T PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.27536 0.27540 0.21291 None None None None None None ADAM33|0.021575059|73.4%
View 24_genetics_snv_99 8 slt 20 rs2280091
dbSNP Clinvar
3650234 1700.77 A G PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.13419 0.13420 0.13396 0.28 0.02 None None None None None None ADAM33|0.021575059|73.4%

ADNP

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 24_genetics_snv_99 8 slt 20 rs141172488
dbSNP Clinvar
49510342 1896.77 C T PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00054 0.43 0.00 None None None None None None ADNP|0.657974321|9.79%

ADRA1D

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 24_genetics_snv_99 8 slt 20 rs184418609
dbSNP Clinvar
4229514 43.74 T C PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.25559 0.25560 1.00 0.00 None None None None None None ADRA1D|0.152836614|42.55%

ADRM1

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 24_genetics_snv_99 8 slt 20 rs2427273
dbSNP Clinvar
60881330 2109.77 G A PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.81789 0.81790 0.16377 None None None None None None ADRM1|0.222122669|34.19%
View 24_genetics_snv_99 8 slt 20 rs2427275
dbSNP Clinvar
60881780 3480.77 T C PASS 1/1 114 SYNONYMOUS_CODING LOW None 0.96286 0.96290 0.03147 None None None None None None ADRM1|0.222122669|34.19%

ANGPT4

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 24_genetics_snv_99 8 slt 20 rs61737018
dbSNP Clinvar
860426 1019.77 G A PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.14876 0.14880 0.12479 None None None None None None ANGPT4|0.024319862|72.08%
View 24_genetics_snv_99 8 slt 20 rs944110
dbSNP Clinvar
854940 1285.77 T C PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.51298 0.51300 0.39090 None None None None None None ANGPT4|0.024319862|72.08%

ANKEF1

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 24_genetics_snv_99 8 slt 20 rs575534
dbSNP Clinvar
10019093 3779.77 A G PASS 1/1 111 SYNONYMOUS_CODING LOW None 0.56550 0.56550 0.35514 None None None None None None ANKEF1|0.06517726|58.59%

ANKRD60

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 24_genetics_snv_99 8 slt 20 rs584855
dbSNP Clinvar
56793706 3728.77 G A PASS 1/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.67652 0.67650 0.21397 0.04 0.93 None None None None None None ANKRD60|0.001529196|92.64%
View 24_genetics_snv_99 8 slt 20 rs1192511
dbSNP Clinvar
56793764 3432.77 G A PASS 1/1 121 SYNONYMOUS_CODING LOW None 0.67672 0.67670 0.21397 None None None None None None ANKRD60|0.001529196|92.64%
View 24_genetics_snv_99 8 slt 20 rs1192514
dbSNP Clinvar
56803353 2157.77 C T PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.32728 0.32730 0.27661 None None None None None None ANKRD60|0.001529196|92.64%

ARFGEF2

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 24_genetics_snv_99 8 slt 20 rs2281582
dbSNP Clinvar
47630449 1207.77 C T PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.20847 0.20850 0.11303 None None None None None None ARFGEF2|0.303924468|27.35%

ARFRP1

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 24_genetics_snv_99 8 slt 20 rs1048665
dbSNP Clinvar
62331989 5155.77 T G PASS 1/1 168 SYNONYMOUS_CODING LOW None 0.26478 0.26480 0.17546 None None None None None None ARFRP1|0.101604996|50.84%

ARHGAP40

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 24_genetics_snv_99 8 slt 20 rs6070809
dbSNP Clinvar
37257590 710.77 C G PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.36597 None None None None None None ARHGAP40|0.014368541|77.58%

ATP9A

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 24_genetics_snv_99 8 slt 20 rs2255342
dbSNP Clinvar
50287790 1917.77 A G PASS 0/1 191 SYNONYMOUS_CODING LOW None 0.70407 0.70410 0.26749 None None None None None None ATP9A|0.17091233|40.18%

ATRN

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 24_genetics_snv_99 8 slt 20 rs17782078
dbSNP Clinvar
3541382 1474.77 T C PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.01757 0.01757 0.04067 0.14 0.05 None None None None None None ATRN|0.348885303|24.22%
View 24_genetics_snv_99 8 slt 20 rs2246808
dbSNP Clinvar
3624830 3972.77 G A PASS 1/1 129 SYNONYMOUS_CODING LOW None 0.38259 0.38260 0.44987 None None None None None None ATRN|0.348885303|24.22%
View 24_genetics_snv_99 8 slt 20 rs3886999
dbSNP Clinvar
3577062 827.77 G A PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.01777 0.01777 0.04060 1.00 0.00 None None None None None None ATRN|0.348885303|24.22%
View 24_genetics_snv_99 8 slt 20 rs235540
dbSNP Clinvar
3564672 1575.77 C T PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.82448 0.82450 0.26895 None None None None None None ATRN|0.348885303|24.22%

BANF2

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 24_genetics_snv_99 8 slt 20 rs4814640
dbSNP Clinvar
17705677 4461.77 A G PASS 1/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.94329 0.94330 0.06459 0.20 0.00 None None None None None None BANF2|0.055467464|61.07%

BCAS1

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 24_genetics_snv_99 8 slt 20 rs35575210
dbSNP Clinvar
52573971 1021.77 T G PASS 0/1 95 None None None 0.13219 0.13220 0.14224 0.11 0.18 None None None None None None BCAS1|0.015654771|76.67%

BFSP1

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 24_genetics_snv_99 8 slt 20 rs6080719
dbSNP Clinvar
17477592 1394.77 C T PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.26737 0.26740 0.16797 0.85 0.00 None None None None None None BFSP1|0.019258664|74.54%
View 24_genetics_snv_99 8 slt 20 rs6136118
dbSNP Clinvar
17475217 1576.77 C T PASS 0/1 148 SYNONYMOUS_CODING LOW None 0.33946 0.33950 0.26803 None None None None None None BFSP1|0.019258664|74.54%
View 24_genetics_snv_99 8 slt 20 rs6080718
dbSNP Clinvar
17474968 3096.77 T C PASS 1/1 99 SYNONYMOUS_CODING LOW None 0.00300 0.00300 0.25988 None None None None None None BFSP1|0.019258664|74.54%

BIRC7

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 24_genetics_snv_99 8 slt 20 rs2273487
dbSNP Clinvar
61869826 2967.77 C T PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.44489 0.44490 0.43433 None None None None None None BIRC7|0.003576281|87.65%

BMP2

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 24_genetics_snv_99 8 slt 20 rs235768
dbSNP Clinvar
6759115 2002.77 A T PASS 0/1 181 NON_SYNONYMOUS_CODING MODERATE None 0.76677 0.76680 0.27069 0.00 0.87 None None None None None None BMP2|0.997316737|0.64%
View 24_genetics_snv_99 8 slt 20 rs13037675
dbSNP Clinvar
6759706 751.77 C T PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.04513 0.04513 0.06090 None None None None None None BMP2|0.997316737|0.64%
View 24_genetics_snv_99 8 slt 20 rs1049007
dbSNP Clinvar
6751034 1473.77 A G PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.74601 0.74600 0.29174 None None None None None None BMP2|0.997316737|0.64%

BPI

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 24_genetics_snv_99 8 slt 20 rs1341023
dbSNP Clinvar
36932660 1338.77 C T PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.43131 0.43130 0.42742 0.01 0.10 None None None None None None BPI|0.001345673|93.63%
View 24_genetics_snv_99 8 slt 20 rs1341024
dbSNP Clinvar
36932676 1363.77 G C PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.43003 None None None None None None BPI|0.001345673|93.63%
View 24_genetics_snv_99 8 slt 20 rs4358188
dbSNP Clinvar
36946848 678.77 G A PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.43510 0.43510 0.49531 1.00 0.00 None None None None None None BPI|0.001345673|93.63%

BPIFA3

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 24_genetics_snv_99 8 slt 20 rs3818222
dbSNP Clinvar
31812923 1191.77 G A PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.66434 0.66430 0.41673 1.00 0.00 None None None None None None BPIFA3|0.004260948|86.67%

BPIFB2

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 24_genetics_snv_99 8 slt 20 rs17124003
dbSNP Clinvar
31609581 1038.77 C T PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.32029 0.32030 0.33777 None None None None None None BPIFB2|0.006724294|83.8%
View 24_genetics_snv_99 8 slt 20 rs61734341
dbSNP Clinvar
31607551 800.77 G C PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.00938 0.00939 0.03752 0.01 0.87 None None None None None None BPIFB2|0.006724294|83.8%

BPIFB3

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 24_genetics_snv_99 8 slt 20 rs378098
dbSNP Clinvar
31660543 1308.77 C T PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.13399 0.13400 0.17923 0.00 1.00 None None None None None None BPIFB3|0.02436257|72.06%
View 24_genetics_snv_99 8 slt 20 rs2093066
dbSNP Clinvar
31652596 1898.77 C T PASS 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.11542 0.11540 0.16523 0.03 0.00 None None None None None None BPIFB3|0.02436257|72.06%

BPIFB4

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 24_genetics_snv_99 8 slt 20 rs2424944
dbSNP Clinvar
31671628 2322.77 C T PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.06350 0.06350 0.09238 None None None None None None BPIFB4|0.029100431|69.82%
View 24_genetics_snv_99 8 slt 20 rs11696307
dbSNP Clinvar
31688260 1346.77 C T PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.47264 0.47260 0.40797 0.17 0.00 None None None None None None BPIFB4|0.029100431|69.82%
View 24_genetics_snv_99 8 slt 20 rs11699009
dbSNP Clinvar
31688241 1198.77 T C PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.51578 0.51580 0.36445 1.00 0.00 None None None None None None BPIFB4|0.029100431|69.82%
View 24_genetics_snv_99 8 slt 20 rs2424943
dbSNP Clinvar
31671619 2390.77 G T PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.06330 0.06330 0.09247 0.00 1.00 None None None None None None BPIFB4|0.029100431|69.82%

BPIFB6

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 24_genetics_snv_99 8 slt 20 rs17301126
dbSNP Clinvar
31619500 1120.77 C T PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.06949 0.06949 0.10834 0.04 0.01 None None None None None None BPIFB6|0.017668453|75.5%
View 24_genetics_snv_99 8 slt 20 rs17373408
dbSNP Clinvar
31624300 360.77 C T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.07149 0.07149 0.11649 None None None None None None BPIFB6|0.017668453|75.5%
View 24_genetics_snv_99 8 slt 20 rs4911287
dbSNP Clinvar
31627291 1625.77 A G PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.60643 0.60640 0.48470 1.00 0.00 None None None None None None BPIFB6|0.017668453|75.5%
View 24_genetics_snv_99 8 slt 20 rs2070317
dbSNP Clinvar
31622083 2926.77 G A PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.56909 0.56910 0.48831 1.00 0.00 None None None None None None BPIFB6|0.017668453|75.5%

C20orf166

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 24_genetics_snv_99 8 slt 20 rs6143064
dbSNP Clinvar
61167883 1904.77 G A PASS 0/1 168 SYNONYMOUS_STOP LOW None 0.26358 0.26360 0.29365 None None None None None None MIR1-1HG|0.000293671|99.44%
View 24_genetics_snv_99 8 slt 20 rs6062251
dbSNP Clinvar
61162267 3461.77 T C PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.57668 0.57670 0.36851 1.00 0.00 None None None None None None MIR1-1HG|0.000293671|99.44%

C20orf194

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 24_genetics_snv_99 8 slt 20 rs2422864
dbSNP Clinvar
3285140 2219.77 T C PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.93371 0.93370 0.12173 1.00 0.00 None None None None None None C20orf194|0.217196802|34.71%

C20orf196

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 24_genetics_snv_99 8 slt 20 rs1699233
dbSNP Clinvar
5843812 3246.77 T C PASS 1/1 105 SYNONYMOUS_CODING LOW None 0.43311 0.43310 0.48716 None None None None None None C20orf196|0.008754295|81.9%
View 24_genetics_snv_99 8 slt 20 rs237422
dbSNP Clinvar
5753579 768.77 C T PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.27295 1.00 0.01 None None None None None None C20orf196|0.008754295|81.9%

C20orf201

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 24_genetics_snv_99 8 slt 20 rs6010717
dbSNP Clinvar
62714783 4956.77 C G PASS 1/1 150 SYNONYMOUS_CODING LOW None 0.62460 0.62460 0.37159 None None None None None None OPRL1|0.253276549|31.26%,LKAAEAR1|0.00333726|88.03%

C20orf26

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 24_genetics_snv_99 8 slt 20 rs6081901
dbSNP Clinvar
20144772 1234.77 G A PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.45887 0.45890 0.44403 0.37 0.00 None None None None None None CFAP61|0.103943105|50.42%
View 24_genetics_snv_99 8 slt 20 rs2424317
dbSNP Clinvar
20257958 956.77 C T PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.13399 0.13400 0.20560 None None None None None None CFAP61|0.103943105|50.42%

CABLES2

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 24_genetics_snv_99 8 slt 20 rs1570027
dbSNP Clinvar
60968596 1339.77 A G PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.20248 0.20250 0.22705 None None None None None None CABLES2|0.058513615|60.25%
View 24_genetics_snv_99 8 slt 20 rs6089219
dbSNP Clinvar
60966318 3027.77 G T PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.90256 0.90260 0.05521 1.00 0.00 None None None None None None CABLES2|0.058513615|60.25%
View 24_genetics_snv_99 8 slt 20 rs13042761
dbSNP Clinvar
60966374 1711.77 G C PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.08926 0.08926 0.10787 None None None None None None CABLES2|0.058513615|60.25%

CASS4

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 24_genetics_snv_99 8 slt 20 rs911159
dbSNP Clinvar
55012318 1271.77 G A PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.13538 0.13540 0.12994 None None None None None None CASS4|0.007706606|82.84%

CBFA2T2

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 24_genetics_snv_99 8 slt 20 rs3803939
dbSNP Clinvar
32212690 5472.77 C T PASS 1/1 176 SYNONYMOUS_CODING LOW None 0.66913 0.66910 0.41796 None None None None None None CBFA2T2|0.275255923|29.51%

CCM2L

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 24_genetics_snv_99 8 slt 20 rs112249840
dbSNP Clinvar
30602775 1268.77 C T PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.05491 0.05491 0.08273 None None None None None None CCM2L|0.097070996|51.71%
View 24_genetics_snv_99 8 slt 20 rs6089151
dbSNP Clinvar
30616835 1982.77 G A PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.01877 0.01877 0.04052 None None None None None None CCM2L|0.097070996|51.71%

CD93

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 24_genetics_snv_99 8 slt 20 rs3746731
dbSNP Clinvar
23065209 2137.77 G A PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.54113 0.54110 0.49908 0.17 0.09 None None None None None None CD93|0.003918213|87.15%

CDC25B

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 24_genetics_snv_99 8 slt 20 rs1056720
dbSNP Clinvar
3784110 849.77 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.23003 0.23000 0.20498 None None None None None None CDC25B|0.242518934|32.24%

CDH26

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 24_genetics_snv_99 8 slt 20 . 58557998 795.77 G A PASS 0/1 65 SYNONYMOUS_CODING LOW None None None None None None None CDH26|0.000365756|99.16%

CDH4

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 24_genetics_snv_99 8 slt 20 rs78259850
dbSNP Clinvar
60485639 868.77 C T PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.00080 0.00080 0.00323 None None None None None None CDH4|0.197684425|36.97%
View 24_genetics_snv_99 8 slt 20 rs2427240
dbSNP Clinvar
60485627 3328.77 C T PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.70487 0.70490 0.17000 None None None None None None CDH4|0.197684425|36.97%

CHGB

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 24_genetics_snv_99 8 slt 20 rs236151
dbSNP Clinvar
5903517 1943.77 A G PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.86861 0.86860 0.20152 0.69 0.00 None None None None None None CHGB|0.023575586|72.37%
View 24_genetics_snv_99 8 slt 20 rs6085324
dbSNP Clinvar
5903067 1447.77 T A PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.23263 0.23260 0.21644 0.40 0.03 None None None None None None CHGB|0.023575586|72.37%
View 24_genetics_snv_99 8 slt 20 rs910122
dbSNP Clinvar
5903323 1403.77 G A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.41653 0.41650 0.35007 0.33 0.00 None None None None None None CHGB|0.023575586|72.37%
View 24_genetics_snv_99 8 slt 20 rs236153
dbSNP Clinvar
5903894 1534.77 A G PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.51518 0.51520 0.44864 None None None None None None CHGB|0.023575586|72.37%

CHRNA4

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 24_genetics_snv_99 8 slt 20 rs1044397
dbSNP Clinvar
61981104 5184.77 C T PASS 1/1 183 SYNONYMOUS_CODING LOW None 0.35184 0.35180 0.40943 None None None None None None CHRNA4|0.164276334|40.99%
View 24_genetics_snv_99 8 slt 20 rs1044394
dbSNP Clinvar
61982085 5311.77 A G PASS 1/1 167 SYNONYMOUS_CODING LOW None 0.86362 0.86360 0.15670 None None None None None None CHRNA4|0.164276334|40.99%
View 24_genetics_snv_99 8 slt 20 rs1044396
dbSNP Clinvar
61981134 4565.77 G A PASS 1/1 160 SYNONYMOUS_CODING LOW None 0.32348 0.32350 0.40831 None None None None None None CHRNA4|0.164276334|40.99%
View 24_genetics_snv_99 8 slt 20 rs1044393
dbSNP Clinvar
61982124 5178.77 A G PASS 1/1 161 SYNONYMOUS_CODING LOW None 0.75719 0.75720 0.23305 None None None None None None CHRNA4|0.164276334|40.99%

COL20A1

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 24_genetics_snv_99 8 slt 20 rs6089881
dbSNP Clinvar
61951489 3576.77 G C PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.88379 0.88380 0.09093 None None None None None None COL20A1|0.010214941|80.7%
View 24_genetics_snv_99 8 slt 20 rs4809287
dbSNP Clinvar
61941747 3529.77 A G PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.95347 0.95350 0.04211 None None None None None None COL20A1|0.010214941|80.7%

COL9A3

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 24_genetics_snv_99 8 slt 20 rs751557
dbSNP Clinvar
61463522 906.77 C A PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.21286 0.21290 0.27072 0.61 0.06 None None None None None None COL9A3|0.05194578|62.08%
View 24_genetics_snv_99 8 slt 20 rs2294995
dbSNP Clinvar
61468571 4258.77 T C PASS 1/1 138 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.23560 None None None None None None COL9A3|0.05194578|62.08%

CPXM1

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 24_genetics_snv_99 8 slt 20 . 2779443 1561.77 A C PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.53 0.02 None None None None None None CPXM1|0.056967274|60.69%

CRNKL1

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 24_genetics_snv_99 8 slt 20 rs7508949
dbSNP Clinvar
20033367 1706.77 C G PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.24241 0.24240 0.32629 0.00 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View 24_genetics_snv_99 8 slt 20 rs2273057
dbSNP Clinvar
20033242 1353.77 A T PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.51897 0.51900 0.46378 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View 24_genetics_snv_99 8 slt 20 rs3817995
dbSNP Clinvar
20033380 1571.77 A G PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.51897 0.51900 0.45473 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View 24_genetics_snv_99 8 slt 20 rs2255258
dbSNP Clinvar
20033137 1659.77 T A PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.70088 0.70090 0.40904 0.78 0.00 None None None None None None CRNKL1|0.403355497|20.56%
View 24_genetics_snv_99 8 slt 20 rs2273058
dbSNP Clinvar
20033319 1645.77 A G PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.51997 0.52000 0.46189 0.85 0.00 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%

CSRP2BP

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 24_genetics_snv_99 8 slt 20 rs1205193
dbSNP Clinvar
18143117 6049.77 T G PASS 1/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.99062 0.99060 0.01938 0.35 0.00 None None None None None None CSRP2BP|0.117112066|47.93%
View 24_genetics_snv_99 8 slt 20 rs2747404
dbSNP Clinvar
18167977 3778.77 T C PASS 1/1 127 SYNONYMOUS_CODING LOW None 0.99101 0.99100 0.01576 None None None None None None CSRP2BP|0.117112066|47.93%

CST1

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 24_genetics_snv_99 8 slt 20 rs3188314
dbSNP Clinvar
23729722 6509.77 G T PASS 1/1 217 SYNONYMOUS_CODING LOW None None None None None None None CST1|0.001682588|91.95%

CST3

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 24_genetics_snv_99 8 slt 20 rs6138024
dbSNP Clinvar
23618395 3355.77 T C PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.95108 0.95110 0.05076 None None None None None None CST3|0.004669156|86.24%

CST5

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 24_genetics_snv_99 8 slt 20 rs1799841
dbSNP Clinvar
23860178 1668.77 A G PASS 0/1 153 NON_SYNONYMOUS_CODING MODERATE None 0.56510 0.56510 0.45863 1.00 0.00 None None None None None None CST5|0.000620853|97.77%

CST8

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 24_genetics_snv_99 8 slt 20 rs2983288
dbSNP Clinvar
23472391 3677.77 A G PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.99101 0.99100 0.02161 None None None None None None CST8|0.002009585|90.99%

CST9

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 24_genetics_snv_99 8 slt 20 rs2983640
dbSNP Clinvar
23586360 1342.77 G A PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.45507 0.45510 0.45594 0.16 0.87 None None None None None None CST9|0.000211007|99.73%

CST9L

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 24_genetics_snv_99 8 slt 20 rs2295564
dbSNP Clinvar
23546639 1355.77 T G PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.37580 0.37580 0.34661 1.00 0.00 None None None None None None CST9L|0.000714685|97.19%

CSTL1

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 24_genetics_snv_99 8 slt 20 rs3746736
dbSNP Clinvar
23424613 1026.77 T C PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.65495 0.65500 0.40035 1.00 0.00 None None None None None None CSTL1|0.004298444|86.59%

CTCFL

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 24_genetics_snv_99 8 slt 20 rs6025606
dbSNP Clinvar
56098733 2694.77 T C PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.74900 0.74900 0.28518 0.53 0.00 None None None None None None CTCFL|0.003556295|87.7%
View 24_genetics_snv_99 8 slt 20 rs6025601
dbSNP Clinvar
56090807 2519.77 A G PASS 0/1 181 SYNONYMOUS_CODING LOW None 0.32847 0.32850 0.25019 None None None None None None CTCFL|0.003556295|87.7%