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Genes:
AAGAB, ABHD17C, ACAN, ACSBG1, ADAL, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AGBL1, AKAP13, ALDH1A3, ALPK3, ANKDD1A, APH1B, AQP9, AQR, ARID3B, ARNT2, ARRDC4, ATP10A, ATP8B4, BAHD1, BBS4, BCL2A1, BCL2L10, BUB1B, C15ORF37, C15orf27, C15orf32, C15orf37, C15orf39, C15orf40, C15orf52, C15orf53, C15orf56, C15orf59, CASC5, CCDC33, CCPG1, CERS3, CGNL1, CHD2, CHRFAM7A, CHRM5, CHRNA3, CHRNA7, CHRNB4, CHSY1, CIB2, CILP, CLK3, COPS2, CPEB1, CRABP1, CRTC3, CSK, CTSH, CYFIP1, DENND4A, DIS3L, DISP2, DKFZP779J2370, DMXL2, DNAJA4, DNAJC17, DUOX2, DUOXA2, EFTUD1, EHD4, EIF2AK4, EXD1, FAM154B, FAM169B, FAM174B, FAM189A1, FAM214A, FAM81A, FAM96A, FAN1, FANCI, FBN1, FEM1B, FES, FMN1, FURIN, GABRA5, GABRG3, GALK2, GANC, GCOM1, GDPGP1, GJD2, GLCE, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L18, GOLGA6L19, GOLGA6L2, GOLGA6L4, GOLGA6L6, GOLGA8A, GOLGA8B, GOLGA8F, GOLGA8H, GOLGA8I, GOLGA8K, GOLGA8M, GOLGA8O, GOLGA8Q, GOLGA8R, GOLGA8S, HCN4, HERC1, HERC2, HEXA, HYKK, IGDCC3, IGDCC4, IGF1R, IL16, IQCH, IREB2, ISG20, ISL2, ISLR, ITGA11, JMJD7-PLA2G4B, KBTBD13, KIAA1024, KIAA1199, KIF23, KIF7, KLHL25, LACTB, LCMT2, LDHAL6B, LINGO1, LINS, LIPC, LRRC49, LRRK1, LYSMD4, MAN2A2, MAN2C1, MAP2K5, MAPKBP1, MCTP2, MEF2A, MEGF11, MESP2, MFGE8, MGA, MKRN3, MPI, MTMR10, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, NARG2, NDN, NEDD4, NEO1, NIPA1, NMB, NOX5, NTRK3, NUTM1, OCA2, OR4M2, OR4N4, OTUD7A, PAK6, PATL2, PCSK6, PDE8A, PDIA3, PEAK1, PEX11A, PGPEP1L, PIF1, PLA2G4D, PLA2G4E, PLA2G4F, PLIN1, PML, POTEB, PPCDC, PRC1, RASGRF1, RCCD1, RCN2, RFX7, RGMA, RHCG, RNF111, RORA, RP11-133K1.2, RP11-89K11.1, RPAP1, RYR3, SCAPER, SECISBP2L, SEMA4B, SEMA6D, SEMA7A, SENP8, SH2D7, SHF, SLC12A1, SLC12A6, SLC24A1, SLC27A2, SLC28A1, SLC28A2, SLCO3A1, SMAD3, SORD, SPINT1, SPRED1, SPTBN5, SRP14, ST20, ST8SIA2, STRA6, SV2B, SYNM, TARSL2, TBC1D2B, TGM5, TGM7, THAP10, THSD4, TICRR, TIPIN, TJP1, TLE3, TLN2, TM6SF1, TMC3, TMED3, TP53BP1, TRIM69, TRIP4, TRPM1, TRPM7, TSPAN3, TTBK2, TTC23, TTLL13, TUBGCP5, TYRO3, UACA, UBE2Q2, ULK3, UNC13C, USP8, VPS13C, VPS33B, VWA9, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFYVE19, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZSCAN2, ZSCAN29,

Genes at Omim

AAGAB, ACAN, ADAMTS17, AGBL1, ALDH1A3, ALPK3, ARNT2, BBS4, BUB1B, CERS3, CHD2, CHRNA3, CHSY1, CIB2, CILP, DMXL2, DUOX2, DUOXA2, EIF2AK4, FAN1, FANCI, FBN1, HCN4, HERC1, HERC2, HEXA, IGF1R, KBTBD13, KIF7, LINGO1, LIPC, MAPKBP1, MEF2A, MESP2, MKRN3, MPI, MYO1E, MYO5A, MYO9A, NDN, NIPA1, OCA2, PATL2, PLIN1, PML, RORA, SCAPER, SEMA7A, SLC12A1, SLC12A6, SLC24A1, SMAD3, SORD, SPRED1, STRA6, TGM5, TRIP4, TRPM1, TRPM7, TTBK2, USP8, VPS13C, VPS33B, WDR72, WDR73,
AAGAB Keratoderma, palmoplantar, punctate type IA, 148600 (3)
ACAN ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ADAMTS17 Weill-Marchesani 4 syndrome, recessive, 613195 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
ALDH1A3 Microphthalmia, isolated 8, 615113 (3)
ALPK3 Cardiomyopathy, familial hypertrophic 27, 618052 (3)
ARNT2 ?Webb-Dattani syndrome, 615926 (3)
BBS4 Bardet-Biedl syndrome 4, 615982 (3)
BUB1B Colorectal cancer, somatic, 114500 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
[Premature chromatid separation trait], 176430 (3)
CERS3 Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
CHD2 Epileptic encephalopathy, childhood-onset, 615369 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 (3)
CIB2 Deafness, autosomal recessive 48, 609439 (3)
Usher syndrome, type IJ, 614869 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
DMXL2 ?Deafness, autosomal dominant 71, 617605 (3)
?Polyendocrine-polyneuropathy syndrome, 616113 (3)
DUOX2 Thyroid dyshormonogenesis 6, 607200 (3)
DUOXA2 Thyroid dyshormonogenesis 5, 274900 (3)
EIF2AK4 Pulmonary venoocclusive disease 2, 234810 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FANCI Fanconi anemia, complementation group I, 609053 (3)
FBN1 Geleophysic dysplasia 2, 614185 (3)
Ectopia lentis, familial, 129600 (3)
MASS syndrome, 604308 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Acromicric dysplasia, 102370 (3)
Stiff skin syndrome, 184900 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
HCN4 Brugada syndrome 8, 613123 (3)
Sick sinus syndrome 2, 163800 (3)
HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HEXA GM2-gangliosidosis, several forms, 272800 (3)
Tay-Sachs disease, 272800 (3)
[Hex A pseudodeficiency], 272800 (3)
IGF1R Insulin-like growth factor I, resistance to, 270450 (3)
KBTBD13 Nemaline myopathy 6, autosomal dominant, 609273 (3)
KIF7 Acrocallosal syndrome, 200990 (3)
Joubert syndrome 12, 200990 (3)
?Hydrolethalus syndrome 2, 614120 (3)
?Al-Gazali-Bakalinova syndrome, 607131 (3)
LINGO1 Mental retardation, autosomal recessive 64, 618103 (3)
LIPC Hepatic lipase deficiency, 614025 (3)
[High density lipoprotein cholesterol level QTL 12], 612797 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
MAPKBP1 Nephronophthisis 20, 617271 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MKRN3 Precocious puberty, central, 2, 615346 (3)
MPI Congenital disorder of glycosylation, type Ib, 602579 (3)
MYO1E Glomerulosclerosis, focal segmental, 6, 614131 (3)
MYO5A Griscelli syndrome, type 1, 214450 (3)
MYO9A Myasthenic syndrome, congenital, 24, presynaptic, 618198 (3)
NDN Prader-Willi syndrome, 176270 (3)
NIPA1 Spastic paraplegia 6, autosomal dominant, 600363 (3)
OCA2 Albinism, brown oculocutaneous, 203200 (3)
Albinism, oculocutaneous, type II, 203200 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
PATL2 Oocyte maturation defect 4, 617743 (3)
PLIN1 Lipodystrophy, familial partial, type 4, 613877 (3)
PML Leukemia, acute promyelocytic, PML/RARA type (3)
RORA Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
SEMA7A [Blood group, John-Milton-Hagen system], 614745 (3)
SLC12A1 Bartter syndrome, type 1, 601678 (3)
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SLC24A1 Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)
SMAD3 Loeys-Dietz syndrome 3, 613795 (3)
SORD ?Cataract, congenital (2)
SPRED1 Legius syndrome, 611431 (3)
STRA6 Microphthalmia, isolated, with coloboma 8, 601186 (3)
Microphthalmia, syndromic 9, 601186 (3)
TGM5 Peeling skin syndrome 2, 609796 (3)
TRIP4 ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3)
Spinal muscular atrophy with congenital bone fractures 1, 616866 (3)
TRPM1 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
TRPM7 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
TTBK2 Spinocerebellar ataxia 11, 604432 (3)
USP8 Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)
VPS13C Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
VPS33B Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
WDR72 Amelogenesis imperfecta, type IIA3, 613211 (3)
WDR73 Galloway-Mowat syndrome 1, 251300 (3)

Genes at Clinical Genomics Database

AAGAB, ACAN, ADAMTS17, AGBL1, ALDH1A3, ARNT2, BBS4, BUB1B, CERS3, CHD2, CHSY1, CIB2, DMXL2, DUOX2, DUOXA2, EIF2AK4, FAN1, FANCI, FBN1, HCN4, HERC2, HEXA, IGF1R, KBTBD13, KIF7, LIPC, MESP2, MKRN3, MPI, MYO1E, MYO5A, NIPA1, OCA2, PLIN1, SEMA7A, SLC12A1, SLC12A6, SLC24A1, SMAD3, SPRED1, STRA6, TGM5, TRIP4, TRPM1, TTBK2, VPS13C, WDR72, WDR73, ZNF592,
AAGAB Keratoderma, palmoplantar, punctate type IA
ACAN Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ADAMTS17 Weill-Marchesani-like syndrome
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
ALDH1A3 Microphthalmia, isolated 8
ARNT2 Webb-Datani syndrome
BBS4 Bardet-Biedl syndrome 4
BUB1B Mosaic variegated aneuploidy syndrome
Premature chromatid separation trait
CERS3 Ichthyosis, congenital, autosomal recessive 9
CHD2 Epileptic encephalopathy, childhood-onset
CHSY1 Temtamy preaxial brachydactyly syndrome
CIB2 Deafness, autosomal recessive 48
Usher syndrome type IJ
DMXL2 Polyendocrine-polyneuropathy syndrome
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
EIF2AK4 Pulmonary venoocclusive disease 2
FAN1 Interstitial nephritis, karyomegalic
FANCI Fanconi anemia, complementation group I
FBN1 Marfan syndrome
MASS syndrome
Shprintzen-Goldberg syndrome
Marfan lipodystrophy syndrome
HCN4 Brugada syndrome 8
Sick sinus syndrome 2
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
HEXA Tay-Sachs disease
GM2-gangliosidosis
Hexosaminidase A deficiency
IGF1R Insulin-like growth factor I, resistance to
KBTBD13 Nemaline myopathy 6
KIF7 Hydrolethalus syndrome 2
Acrocallosal syndrome
Joubert syndrome 12
Al-Gazali-Bakalinova syndrome
LIPC Hepatic lipase deficiency
MESP2 Spondylocostal dysostosis 2, autosomal recessive
MKRN3 Central precocious puberty
MPI Congenital disorder of glycosylation, type Ib
MYO1E Focal segmental glomerulosclerosis 6
MYO5A Griscelli syndrome, type 1
NIPA1 Spastic paraplegia 6
OCA2 Albinism, oculocutaneous, type II
Albinism, brown oculocutaneous
Skin/hair/eye pigmentation 1
PLIN1 Lipodystrophy, familial partial, type 4
SEMA7A Blood group, John Milton Hagen
SLC12A1 Bartter syndrome, antenatal, type 1
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SLC24A1 Night blindness, congenital stationary, type 1D
SMAD3 Aneurysms-osteoarthritis syndrome
Loeys-Dietz syndrome, type 3
SPRED1 Legius syndrome
STRA6 Microphthalmia, syndromic 9
Microphthalmia, isolated, with coloboma 8
TGM5 Peeling skin syndrome 2
TRIP4 Spinal muscular atrophy with congenital bone fractures 1 (AR)
TRPM1 Night blindness, congenital stationary, type 1C
TTBK2 Spinocerebellar ataxia 11
VPS13C Parkinson disease 23, autosomal recessive, early onset
WDR72 Amelogenesis imperfecta, hypomaturation type, IIA3
WDR73 Galloway-Mowat syndrome
ZNF592 Spinocerebellar ataxia, autosomal recessive 5

Genes at HGMD

Summary

Number of Variants: 6130
Number of Genes: 278

Export to: CSV

AAGAB

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 t30541_annotated_calls 15 rs7173826
dbSNP Clinvar
67528374 200.0 T G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.36342 0.36340 0.25390 0.48 0.02 None None None None None None AAGAB|0.101167866|50.94%

ABHD17C

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 t30541_annotated_calls 15 rs62007944
dbSNP Clinvar
80987812 34.0 T C sb;badReads 1/1 0 SYNONYMOUS_CODING LOW None 0.97744 0.97740 0.01825 None None None None None None ABHD17C|0.053788984|61.53%

ACAN

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 t30541_annotated_calls 15 rs12899191
dbSNP Clinvar
89400023 200.0 A G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.63 0.34 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs1042631
dbSNP Clinvar
89402239 200.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.73642 0.73640 0.18514 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs698621
dbSNP Clinvar
89402596 139.0 T G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.45148 0.45150 0.45219 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs938608
dbSNP Clinvar
89398605 200.0 G T PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.45268 0.45270 0.40313 0.01 0.84 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs938609
dbSNP Clinvar
89398631 200.0 T A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.39217 0.39220 0.43306 0.07 0.78 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs1568116
dbSNP Clinvar
89392745 129.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.99561 0.99560 0.00990 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs4932439
dbSNP Clinvar
89401109 200.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.76038 0.76040 0.13224 1.00 0.01 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs2351491
dbSNP Clinvar
89398105 200.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.47549 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs3743399
dbSNP Clinvar
89398330 200.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.00040 0.75900 0.13242 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs3825994
dbSNP Clinvar
89401615 200.0 T G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.53255 0.53250 0.35216 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs35430524
dbSNP Clinvar
89398553 200.0 C A PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.09724 0.09724 0.07298 0.04 0.05 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs4080952
dbSNP Clinvar
89398825 95.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.31450 0.31450 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs1042630
dbSNP Clinvar
89402051 200.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.64597 0.64600 0.26503 0.20 0.01 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 . 89381906 200.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs2272023
dbSNP Clinvar
89391160 200.0 C A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.69429 0.69430 0.20369 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs2882676
dbSNP Clinvar
89400339 200.0 A C PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.42412 0.42410 0.43105 0.19 0.24 None None None None None None ACAN|0.017538305|75.58%
View t30541_annotated_calls 15 rs79161342
dbSNP Clinvar
89399452 44.0 C T sb 1/1 0 SYNONYMOUS_CODING LOW None 0.03055 0.03055 None None None None None None ACAN|0.017538305|75.58%

ACSBG1

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 t30541_annotated_calls 15 rs17850484
dbSNP Clinvar
78471110 200.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.08866 0.08866 0.06850 None None None None None None ACSBG1|0.055446923|61.08%
View t30541_annotated_calls 15 rs17479031
dbSNP Clinvar
78471954 200.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.08886 0.08886 0.06873 None None None None None None ACSBG1|0.055446923|61.08%

ADAL

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 t30541_annotated_calls 15 rs2278857
dbSNP Clinvar
43632549 200.0 T C PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.53914 0.53910 0.48339 None None None None None None ADAL|0.343367733|24.61%

ADAMTS17

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 t30541_annotated_calls 15 rs12907333
dbSNP Clinvar
100672237 200.0 T G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.99760 0.99760 0.00162 None None None None None None ADAMTS17|0.138524801|44.61%
View t30541_annotated_calls 15 rs61752832
dbSNP Clinvar
100649248 200.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.08526 0.08526 0.08811 None None None None None None ADAMTS17|0.138524801|44.61%
View t30541_annotated_calls 15 rs28567966
dbSNP Clinvar
100692845 200.0 A G PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.14577 0.14580 0.16608 0.92 0.00 None None None None None None ADAMTS17|0.138524801|44.61%
View t30541_annotated_calls 15 rs4369638
dbSNP Clinvar
100794363 200.0 C T PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.82149 0.82150 0.25465 None None None None None None ADAMTS17|0.138524801|44.61%
View t30541_annotated_calls 15 rs4965613
dbSNP Clinvar
100801698 128.0 G A PASS 1/0 0 SYNONYMOUS_CODING LOW None 0.69209 0.69210 0.32600 None None None None None None ADAMTS17|0.138524801|44.61%

ADAMTS7

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 t30541_annotated_calls 15 rs3743057
dbSNP Clinvar
79089007 200.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.79253 0.79250 0.25304 None None None None None None ADAMTS7|0.010836867|80.23%
View t30541_annotated_calls 15 rs1809421
dbSNP Clinvar
79058572 200.0 T G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.00080 0.00080 0.06722 None None None None None None ADAMTS7|0.010836867|80.23%
View t30541_annotated_calls 15 rs1809422
dbSNP Clinvar
79058923 200.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.94768 0.94770 0.02360 None None None None None None ADAMTS7|0.010836867|80.23%
View t30541_annotated_calls 15 rs562053654
dbSNP Clinvar
79058941 200.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.01418 0.01418 None None None None None None ADAMTS7|0.010836867|80.23%
View t30541_annotated_calls 15 rs2127898
dbSNP Clinvar
79083120 200.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.27030 0.01 0.98 None None None None None None ADAMTS7|0.010836867|80.23%
View t30541_annotated_calls 15 rs112827102
dbSNP Clinvar
79058968 200.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.11042 0.11040 0.05397 None None None None None None ADAMTS7|0.010836867|80.23%
View t30541_annotated_calls 15 rs3825807
dbSNP Clinvar
79089111 200.0 A G PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.25020 0.25020 0.34649 0.40 0.00 None None None None None None ADAMTS7|0.010836867|80.23%

ADAMTSL3

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 t30541_annotated_calls 15 rs4144691
dbSNP Clinvar
84539619 200.0 C G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.80751 0.80750 0.15170 1.00 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%
View t30541_annotated_calls 15 rs4842838
dbSNP Clinvar
84582124 200.0 G T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.68570 0.68570 0.38182 1.00 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%
View t30541_annotated_calls 15 rs8031704
dbSNP Clinvar
84651185 200.0 C A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.37600 0.37600 0.40989 None None None None None None ADAMTSL3|0.040550889|65.6%
View t30541_annotated_calls 15 rs7176737
dbSNP Clinvar
84651290 200.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.86921 0.86920 0.16600 None None None None None None ADAMTSL3|0.040550889|65.6%
View t30541_annotated_calls 15 rs950169
dbSNP Clinvar
84706461 200.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.12899 0.12900 0.19479 0.05 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%
View t30541_annotated_calls 15 rs4842923
dbSNP Clinvar
84581904 200.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.68610 0.68610 0.38175 None None None None None None ADAMTSL3|0.040550889|65.6%
View t30541_annotated_calls 15 rs4483821
dbSNP Clinvar
84488636 200.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.67931 0.67930 0.43749 0.57 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%

ADPGK

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 t30541_annotated_calls 15 rs8023358
dbSNP Clinvar
73052845 200.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.19569 0.19570 0.17421 None None None None None None ADPGK|0.134394275|45.22%
View t30541_annotated_calls 15 rs11634630
dbSNP Clinvar
73067234 200.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.96006 0.96010 0.03962 None None None None None None ADPGK|0.134394275|45.22%
View t30541_annotated_calls 15 rs8024644
dbSNP Clinvar
73052840 200.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.20627 0.20630 0.18299 0.29 0.36 None None None None None None ADPGK|0.134394275|45.22%

AEN

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 t30541_annotated_calls 15 rs369014614
dbSNP Clinvar
89173480 200.0 C T PASS 1/0 0 None None None 0.00938 0.00939 0.00008 None None None None None None AEN|0.108873578|49.4%
View t30541_annotated_calls 15 rs8027765
dbSNP Clinvar
89169858 88.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.75839 0.75840 0.18626 1.00 0.00 None None None None None None AEN|0.108873578|49.4%
View t30541_annotated_calls 15 rs3743475
dbSNP Clinvar
89172558 200.0 G C PASS 1/0 0 SYNONYMOUS_CODING LOW None 0.75240 0.75240 0.19457 None None None None None None AEN|0.108873578|49.4%
View t30541_annotated_calls 15 rs372899718
dbSNP Clinvar
89173292 128.0 G A PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.00958 0.00959 0.00008 0.03 1.00 None None None None None None AEN|0.108873578|49.4%

AGBL1

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 t30541_annotated_calls 15 rs1566088
dbSNP Clinvar
86806029 200.0 C T PASS 1/0 0 SYNONYMOUS_CODING LOW None 0.30818 None None None None None None AGBL1|0.082073978|54.74%
View t30541_annotated_calls 15 rs1353578
dbSNP Clinvar
86800209 200.0 C T PASS 1/0 0 SYNONYMOUS_CODING LOW None 0.53974 0.53970 0.35463 None None None None None None AGBL1|0.082073978|54.74%
View t30541_annotated_calls 15 rs10520618
dbSNP Clinvar
86807761 200.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.50539 0.50540 0.47409 None None None None None None AGBL1|0.082073978|54.74%
View t30541_annotated_calls 15 rs11858435
dbSNP Clinvar
86814866 200.0 A G PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.68211 0.68210 0.26808 None None None None None None AGBL1|0.082073978|54.74%
View t30541_annotated_calls 15 rs8028043
dbSNP Clinvar
87217613 200.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.89217 0.89220 0.11030 1.00 0.00 None None None None None None AGBL1|0.082073978|54.74%

AKAP13

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 t30541_annotated_calls 15 rs2061823
dbSNP Clinvar
86122916 200.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.58327 0.58330 0.37356 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs2061824
dbSNP Clinvar
86123019 200.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.58307 0.58310 0.37325 1.00 0.00 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs745191
dbSNP Clinvar
86123170 200.0 G T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.13459 0.13460 0.20412 0.01 0.00 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs2061822
dbSNP Clinvar
86122779 200.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.59625 0.59620 0.35095 0.09 0.00 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs745192
dbSNP Clinvar
86123462 200.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.19828 0.19830 0.11960 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs4075256
dbSNP Clinvar
86123833 200.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.58210 0.37417 1.00 0.00 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs4075255
dbSNP Clinvar
86123924 200.0 C T PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.58227 0.58230 0.37379 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs2061821
dbSNP Clinvar
86122654 200.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.58307 0.58310 0.37287 1.00 0.00 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs4843073
dbSNP Clinvar
86124419 200.0 C T PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.58147 0.58150 0.37371 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs4843074
dbSNP Clinvar
86124483 200.0 C G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.58187 0.58190 0.37410 0.16 0.16 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs4843075
dbSNP Clinvar
86124555 200.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.58127 0.58130 0.37364 1.00 0.00 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs7162168
dbSNP Clinvar
86124946 200.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.58267 0.58270 0.37302 0.72 0.00 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs11633087
dbSNP Clinvar
86124968 200.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.57568 0.57570 0.38048 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs7178065
dbSNP Clinvar
86125031 200.0 G A PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.57668 0.57670 0.37471 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs2241268
dbSNP Clinvar
86278309 200.0 G A PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.13658 0.13660 0.19151 0.04 0.97 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs2614668
dbSNP Clinvar
86287867 92.0 G A PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.18850 0.18850 0.13106 0.13 0.00 None None None None None None AKAP13|0.042148693|65.04%
View t30541_annotated_calls 15 rs4075254
dbSNP Clinvar
86123988 200.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.58207 0.58210 0.37356 0.14 0.02 None None None None None None AKAP13|0.042148693|65.04%

ALDH1A3

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 t30541_annotated_calls 15 rs3803430
dbSNP Clinvar
101445815 200.0 A G PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.12740 0.12740 0.11333 0.69 0.00 None None None None None None ALDH1A3|0.216656355|34.78%

ALPK3

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 t30541_annotated_calls 15 rs3803406
dbSNP Clinvar
85383839 200.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW None 0.74361 0.74360 0.32490 None None None None None None ALPK3|0.009711296|81.06%
View t30541_annotated_calls 15 rs306197
dbSNP Clinvar
85401259 200.0 C T PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.80471 0.80470 0.21088 0.84 0.00 None None None None None None ALPK3|0.009711296|81.06%
View t30541_annotated_calls 15 rs3803405
dbSNP Clinvar
85383640 200.0 G A PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.13798 0.13800 0.19734 0.06 0.09 None None None None None None ALPK3|0.009711296|81.06%
View t30541_annotated_calls 15 rs187316
dbSNP Clinvar
85405995 104.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.15036 0.15040 0.19955 0.00 0.83 None None None None None None ALPK3|0.009711296|81.06%
View t30541_annotated_calls 15 rs167379
dbSNP Clinvar
85401419 200.0 T C PASS 1/0 0 SYNONYMOUS_CODING LOW None 0.84784 0.84780 0.16228 None None None None None None ALPK3|0.009711296|81.06%

ANKDD1A

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 t30541_annotated_calls 15 rs34988193
dbSNP Clinvar
65235776 200.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.24621 0.24620 0.28673 0.00 0.96 None None None None None None ANKDD1A|0.020521915|73.92%
View t30541_annotated_calls 15 rs2414865
dbSNP Clinvar
65236875 200.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.55292 0.55290 0.45293 None None None None None None ANKDD1A|0.020521915|73.92%

APH1B

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 t30541_annotated_calls 15 rs117618017
dbSNP Clinvar
63569902 200.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.04433 0.04433 0.09442 0.19 0.26 None None None None None None APH1B|0.082709624|54.64%

AQP9

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 t30541_annotated_calls 15 rs2249783
dbSNP Clinvar
58471368 200.0 C T PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.83646 0.83650 0.09948 None None None None None None ALDH1A2|0.864934326|4.39%,AQP9|0.053776428|61.54%
View t30541_annotated_calls 15 rs1867380
dbSNP Clinvar
58476281 200.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.84285 0.84290 0.09940 1.00 0.00 None None None None None None ALDH1A2|0.864934326|4.39%,AQP9|0.053776428|61.54%

AQR

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 t30541_annotated_calls 15 rs8035240
dbSNP Clinvar
35149008 200.0 C T PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.97744 0.97740 0.02611 None None None None None None AQR|0.159778967|41.59%

ARID3B

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 t30541_annotated_calls 15 rs8043032
dbSNP Clinvar
74836316 70.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.00160 0.36080 0.13978 None None None None None None ARID3B|0.157497653|41.95%

ARNT2

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 t30541_annotated_calls 15 rs4072568
dbSNP Clinvar
80884025 200.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.11202 0.11200 0.17577 1.00 0.00 None None None None None None ARNT2|0.112367144|48.8%

ARRDC4

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 t30541_annotated_calls 15 rs4965046
dbSNP Clinvar
98504100 200.0 G C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.76238 0.76240 0.23067 None None None None None None ARRDC4|0.053899861|61.5%
View t30541_annotated_calls 15 rs2130882
dbSNP Clinvar
98513845 200.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.41913 0.41910 0.37514 0.17 0.88 None None None None None None ARRDC4|0.053899861|61.5%

ATP10A

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 t30541_annotated_calls 15 rs2066704
dbSNP Clinvar
25953442 200.0 C T PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.07169 0.07169 0.09426 0.63 0.07 None None None None None None ATP10A|0.032097365|68.57%
View t30541_annotated_calls 15 rs2076743
dbSNP Clinvar
25926186 14.0 G A PASS 1/0 0 SYNONYMOUS_CODING LOW None 0.67792 0.67790 0.31993 None None None None None None ATP10A|0.032097365|68.57%
View t30541_annotated_calls 15 rs3816800
dbSNP Clinvar
25925094 200.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.44609 0.44610 0.49047 0.92 0.00 None None None None None None ATP10A|0.032097365|68.57%
View t30541_annotated_calls 15 rs10873607
dbSNP Clinvar
25961964 200.0 A G PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.99221 0.99220 0.00600 None None None None None None ATP10A|0.032097365|68.57%
View t30541_annotated_calls 15 rs2066703
dbSNP Clinvar
25962058 200.0 G A PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.06470 0.06470 0.09127 0.01 0.87 None None None None None None ATP10A|0.032097365|68.57%

ATP8B4

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 t30541_annotated_calls 15 rs4774549
dbSNP Clinvar
50152583 200.0 G T PASS 1/1 0 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None ATP8B4|0.392767287|21.21%

BAHD1

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 t30541_annotated_calls 15 rs3803357
dbSNP Clinvar
40751555 200.0 C A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.67572 0.67570 0.41450 0.01 0.02 None None None None None None BAHD1|0.194465075|37.34%

BBS4

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 t30541_annotated_calls 15 rs12914333
dbSNP Clinvar
73023937 200.0 T C PASS 1/1 0 SYNONYMOUS_CODING LOW None 0.96046 0.96050 0.04396 None None None None None None BBS4|0.334154614|25.16%

BCL2A1

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 t30541_annotated_calls 15 rs1138357
dbSNP Clinvar
80263406 200.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.35204 0.35200 0.25165 1.00 0.00 None None None None None None BCL2A1|0.007127851|83.37%
View t30541_annotated_calls 15 rs8026803
dbSNP Clinvar
80260014 200.0 T C PASS 0/1 0 None None None 0.38938 0.38940 0.29010 None None None None None None BCL2A1|0.007127851|83.37%
View t30541_annotated_calls 15 rs1138358
dbSNP Clinvar
80263345 200.0 A C PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.45887 0.45890 0.36291 1.00 0.00 None None None None None None BCL2A1|0.007127851|83.37%
View t30541_annotated_calls 15 rs3826007
dbSNP Clinvar
80263217 200.0 C T PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.20347 0.20350 0.19929 0.01 1.00 None None None None None None BCL2A1|0.007127851|83.37%

BCL2L10

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 t30541_annotated_calls 15 rs2231292
dbSNP Clinvar
52404862 200.0 A C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.53654 0.53650 0.38155 1.00 0.00 None None None None None None BCL2L10|0.000691704|97.32%

BUB1B

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 t30541_annotated_calls 15 rs1801376
dbSNP Clinvar
40477831 200.0 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.62820 0.62820 0.26403 1.00 0.00 None None None None None None BUB1B|0.539848425|14.21%