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Genes:
ABCD4, ABHD12B, ADAM20, ADCK1, ADSSL1, AE000662.92, AHNAK2, AHSA1, AJUBA, AK7, AKAP6, ATG2B, ATL1, ATXN3, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, C14orf144, C14orf166B, C14orf37, C14orf64, C14orf80, CATSPERB, CCDC175, CCDC85C, CCDC88C, CDC42BPB, CDCA4, CDH24, CEP170B, CHD8, CHGA, CHURC1, CKB, CMA1, COCH, COQ6, CPSF2, CRIP2, CTAGE5, DACT1, DCAF5, DHRS2, DHRS4, DHRS4L2, DIO2, DLGAP5, DLK1, DNAAF2, DTD2, ELMSAN1, EMC9, EML1, EML5, ESR2, ESRRB, EXD2, FAM161B, FAM179B, FAM181A, FBLN5, FBXO33, FBXO34, FOXA1, FOXG1, FOXN3, FRMD6, FSCB, FUT8, GALC, GALNT16, GOLGA5, GPR132, GPR33, GSTZ1, GZMB, GZMH, HEATR4, HEATR5A, HOMEZ, HSP90AA1, HSPA2, IFI27L1, IFT43, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV1-45, IGHV1-46, IGHV3-15, IGHV3-23, IGHV3-64, IGHV3-7, IGHV3-73, IGHV5-51, INF2, IPO4, IRF2BPL, IRF9, ITPK1, JAG2, JPH4, KHNYN, KIAA0586, KIF26A, KLHL33, L2HGDH, LRFN5, LRP10, LTBP2, MAP3K9, MAP4K5, MDGA2, MIA2, MLH3, MMP14, MOAP1, MTHFD1, MYH6, MYH7, NFATC4, NGDN, NID2, NIN, NKX2-1, NOP9, NRDE2, NRXN3, NYNRIN, OR10G2, OR11G2, OR11H6, OR4K1, OR4M1, OR5AU1, OTUB2, PAPLN, PARP2, PCK2, PCNX, PLEK2, PNN, POLE2, POMT2, PRKCH, PRKD1, PSMA6, PSMB11, PTGR2, REC8, RIN3, RNASE2, RNASE7, RPGRIP1, RPS6KA5, RTL1, SALL2, SDR39U1, SEC23A, SERPINA1, SERPINA11, SERPINA3, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIVA1, SIX6, SLC39A9, SLC7A7, SLC7A8, SLIRP, SMOC1, SPATA7, SPTB, SPTLC2, SRP54, SSTR1, STON2, SUPT16H, SYNE2, SYNE3, TBPL2, TECPR2, TEP1, TM9SF1, TMEM179, TMEM253, TNFAIP2, TOX4, TRAV21, TRAV6, TRIM9, TRMT5, TRMT61A, TSHR, TTC6, TTC7B, TTLL5, TXNDC16, UNC79, VRK1, VRTN, VSX2, WARS, WDR20, WDR25, XRCC3, YLPM1, ZBTB42, ZC2HC1C, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE21, ZFYVE26, ZNF219,

Genes at Omim

ABCD4, ADSSL1, AK7, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DACT1, EML1, ESR2, ESRRB, FBLN5, FOXG1, FUT8, GALC, GSTZ1, IFT43, IGHG2, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NIN, NKX2-1, PCK2, POMT2, PRKCH, PRKD1, PSMA6, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX6, SLC7A7, SMOC1, SPATA7, SPTB, SPTLC2, SYNE2, TECPR2, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, ZBTB42, ZFHX2, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ADSSL1 Myopathy, distal, 5, 617030 (3)
AK7 ?Spermatogenic failure 27, 617965 (3)
ATL1 Neuropathy, hereditary sensory, type ID, 613708 (3)
Spastic paraplegia 3A, autosomal dominant, 182600 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
BMP4 Microphthalmia, syndromic 6, 607932 (3)
Orofacial cleft 11, 600625 (3)
BRF1 Cerebellofaciodental syndrome, 616202 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
COCH Deafness, autosomal dominant 9, 601369 (3)
?Deafness, autosomal recessive 110, 618094 (3)
COQ6 Coenzyme Q10 deficiency, primary, 6, 614650 (3)
DACT1 ?Townes-Brocks syndrome 2, 617466 (3)
EML1 Band heterotopia, 600348 (3)
ESR2 ?Ovarian dysgenesis 8, 618187 (3)
ESRRB Deafness, autosomal recessive 35, 608565 (3)
FBLN5 Cutis laxa, autosomal dominant 2, 614434 (3)
Cutis laxa, autosomal recessive, type IA, 219100 (3)
Macular degeneration, age-related, 3, 608895 (3)
Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FOXG1 Rett syndrome, congenital variant, 613454 (3)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC Krabbe disease, 245200 (3)
GSTZ1 [Maleylacetoacetate isomerase deficiency], 617596 (3)
IFT43 ?Cranioectodermal dysplasia 3, 614099 (3)
?Retinitis pigmentosa 81, 617871 (3)
Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3)
IGHG2 IgG2 deficiency, selective (3)
IGHM Agammaglobulinemia 1, 601495 (3)
INF2 Glomerulosclerosis, focal segmental, 5, 613237 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KIAA0586 Joubert syndrome 23, 616490 (3)
Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)
L2HGDH L-2-hydroxyglutaric aciduria, 236792 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
Colorectal cancer, somatic, 114500 (3)
{Endometrial cancer, susceptibility to}, 608089 (3)
MMP14 ?Winchester syndrome, 277950 (3)
MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYH6 Atrial septal defect 3, 614089 (3)
Cardiomyopathy, dilated, 1EE, 613252 (3)
Cardiomyopathy, hypertrophic, 14, 613251 (3)
{Sick sinus syndrome 3}, 614090 (3)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NIN ?Seckel syndrome 7, 614851 (3)
NKX2-1 Chorea, hereditary benign, 118700 (3)
Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3)
{Thyroid cancer, nonmedullary, 1}, 188550 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRKCH {Cerebral infarction, susceptibility to}, 601367 (3)
PRKD1 Congenital heart defects and ectodermal dysplasia, 617364 (3)
PSMA6 {Myocardial infarction, susceptibility to}, 608446 (3)
RPGRIP1 Cone-rod dystrophy 13, 608194 (3)
Leber congenital amaurosis 6, 613826 (3)
SALL2 ?Coloboma, ocular, autosomal recessive, 216820 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SERPINA1 Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)
Emphysema due to AAT deficiency, 613490 (3)
Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
SERPINA3 Alpha-1-antichymotrypsin deficiency (3)
Cerebrovascular disease, occlusive (3)
SIX6 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SMOC1 Microphthalmia with limb anomalies, 206920 (3)
SPATA7 Leber congenital amaurosis 3, 604232 (3)
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TECPR2 Spastic paraplegia 49, autosomal recessive, 615031 (3)
TRMT5 Combined oxidative phosphorylation deficiency 26, 616539 (3)
TSHR Hyperthyroidism, familial gestational, 603373 (3)
Hyperthyroidism, nonautoimmune, 609152 (3)
Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
Thyroid adenoma, hyperfunctioning, somatic (3)
Thyroid carcinoma with thyrotoxicosis (3)
TTLL5 Cone-rod dystrophy 19, 615860 (3)
VRK1 Pontocerebellar hypoplasia type 1A, 607596 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
XRCC3 {Melanoma, cutaneous malignant, 6}, 613972 (3)
{Breast cancer, susceptibility to}, 114480 (3)
ZBTB42 ?Lethal congenital contracture syndrome 6, 616248 (3)
ZFHX2 ?Marsili syndrome, 147430 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCD4, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, ESRRB, FBLN5, FOXG1, GALC, IFT43, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NIN, NKX2-1, POMT2, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX6, SLC7A7, SMOC1, SPATA7, SPTB, SYNE2, TECPR2, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
ATL1 Neuropathy, hereditary sensory, type 1D
Spastic paraplegia 3, autosomal dominant
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
BMP4 Microphthalmia, syndromic 6
Orofacial cleft 11
BRF1 Cerebellofaciodental syndrome
CCDC88C Spinocerebellar ataxia 40
CHD8 Autism, susceptibility to 18
COCH Deafness, autosomal dominant 9
COQ6 Coenzyme Q10 deficiency, primary 6
DNAAF2 Ciliary dyskinesia, primary, 10
ESRRB Deafness, autosomal recessive 35
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
FOXG1 Rett syndrome, congenital variant
GALC Krabbe disease
IFT43 Cranioectodermal dysplasia 3
IGHM Agammaglobulinemia 1
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
KIAA0586 Joubert syndrome 23
Short rib thoracic dysplasia 14 with polydactyly
L2HGDH L-2-hydroxyglutaric aciduria
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MLH3 Colorectal cancer, hereditary nonpolyposis type 7
Endometrial carcinoma
MMP14 Winchester syndrome
MTHFD1 Severe combined immunodeficiency
MYH6 Cardiomyopathy, dilated, 1EE
Cardiomyopathy, familial hypertrophic 14
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NIN Seckel syndrome 7
NKX2-1 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Thyroid cancer, nonmedullary 1
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
RPGRIP1 Leber congenital amaurosis 6
Cone-rod dystrophy 13
SALL2 Ocular coloboma
SEC23A Craniolenticulosutural dysplasia
SERPINA1 Alpha-1-Antitrypsin deficiency
SERPINA6 Corticosteroid-binding globulin deficiency
SIX6 Microphthalmia, isolated, with cataract 2
Optic disc anomalies with retinal and/or macular dystrophy
SLC7A7 Lysinuric protein intolerance
SMOC1 Microphthalmia with limb anomalies
SPATA7 Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TECPR2 Spastic paraplegia 49, autosomal recessive
TRMT5 Combined oxidative phosphorylation deficiency 26
TSHR Hyperthyroidism, familial, gestational
Hyperthyroidism, nonautoimmune
Hypothyroidism, congenital, nongoitrous, 1
TTLL5 Cone-rod dystrophy 19
VRK1 Pontocerebellar hypoplasia type 1A
VSX2 Microphthalmia, isolated 2
Microphthalmia, isolated, with coloboma 3
ZBTB42 Lethal congenital contracture syndrome 6
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 704
Number of Genes: 231

Export to: CSV

ABCD4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs4148078
dbSNP Clinvar
74759301 2143.39 G T PASS 0/1 156 SYNONYMOUS_CODING LOW None 0.26298 0.26300 0.29925 None None None None None None ABCD4|0.201608796|36.57%
View 15ac02303_s1 genome 14 rs750827619
dbSNP Clinvar
74764660 1059.49 T G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.61 None None None None None None ABCD4|0.201608796|36.57%
View 15ac02303_s1 genome 14 rs4148077
dbSNP Clinvar
74759477 3624.73 C T PASS 0/1 300 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30747 1.00 0.00 None None None None None None ABCD4|0.201608796|36.57%
View 15ac02303_s1 genome 14 rs3742801
dbSNP Clinvar
74759006 1009.35 C T PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30724 0.31 0.00 None None None None None None ABCD4|0.201608796|36.57%
View 15ac02303_s1 genome 14 rs2301345
dbSNP Clinvar
74766352 939.74 A G PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.26258 0.26260 0.29902 None None None None None None ABCD4|0.201608796|36.57%

ABHD12B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 51352362 9.8 T A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.48 0.81 None None None None None None PYGL|0.75708561|6.92%,ABHD12B|0.032837943|68.22%
View 15ac02303_s1 genome 14 rs35375734
dbSNP Clinvar
51352345 9.8 G A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.03594 0.03594 0.04367 0.41 0.91 None None None None None None PYGL|0.75708561|6.92%,ABHD12B|0.032837943|68.22%

ADAM20

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 70991020 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.05 None None None None None None ADAM20|0.000858397|96.3%

ADCK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs34272020
dbSNP Clinvar
78374172 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.07648 0.07648 0.11710 None None None None None None ADCK1|0.142961952|44%

ADSSL1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs33958252
dbSNP Clinvar
105196365 7.08 T C LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.44888 None None None None None None ADSSL1|0.059470498|60.05%

AE000662.92

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs12888861
dbSNP Clinvar
23025932 9.8 A T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.62840 0.62840 None None None None None None None
View 15ac02303_s1 genome 14 . 23025947 7.08 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None None

AHNAK2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs10145032
dbSNP Clinvar
105414810 9.8 C G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.53235 0.53230 0.43901 None None None None None None AHNAK2|0.000253171|99.62%
View 15ac02303_s1 genome 14 rs2582513
dbSNP Clinvar
105414790 7.08 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.56310 0.56310 0.41529 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View 15ac02303_s1 genome 14 . 105416260 14.91 T C LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.94 None None None None None None AHNAK2|0.000253171|99.62%
View 15ac02303_s1 genome 14 rs2819435
dbSNP Clinvar
105416220 52.84 T A LowGQ;LowGQX 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.07528 0.72180 0.13588 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View 15ac02303_s1 genome 14 . 105414721 7.08 G A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View 15ac02303_s1 genome 14 rs72702027
dbSNP Clinvar
105414629 9.8 G A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.53195 0.53190 0.43679 0.80 None None None None None None AHNAK2|0.000253171|99.62%
View 15ac02303_s1 genome 14 rs34499888
dbSNP Clinvar
105411153 9.8 G A LowGQ;LowGQX;SB 1/1 2 SYNONYMOUS_CODING LOW None 0.24062 0.24060 0.37356 None None None None None None AHNAK2|0.000253171|99.62%
View 15ac02303_s1 genome 14 rs2819419
dbSNP Clinvar
105406238 7.08 A C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.59086 0.59090 0.38914 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View 15ac02303_s1 genome 14 rs11160825
dbSNP Clinvar
105410411 4.97 C T LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.54972 0.54970 0.41916 0.98 None None None None None None AHNAK2|0.000253171|99.62%
View 15ac02303_s1 genome 14 rs61421370
dbSNP Clinvar
105406372 14.91 C T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.29313 0.29310 0.42651 0.04 None None None None None None AHNAK2|0.000253171|99.62%

AHSA1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs760257
dbSNP Clinvar
77935145 14.91 G A LowGQ;LowGQX 1/1 2 None None None 0.47444 0.47440 0.32 0.00 None None None None None None AHSA1|0.497086001|15.98%

AJUBA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 23451120 9.8 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.00 None None None None None None AJUBA|0.667242256|9.47%

AK7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 96924450 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None AK7|0.025423977|71.6%

AKAP6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 33004894 4.97 G T LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None AKAP6|0.906075509|3.33%
View 15ac02303_s1 genome 14 . 33004955 4.97 G T LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None AKAP6|0.906075509|3.33%

ATG2B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs9323945
dbSNP Clinvar
96781912 9.8 T C LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.90655 0.90650 0.00711 1.00 0.00 None None None None None None ATG2B|0.10842436|49.47%

ATL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs35014209
dbSNP Clinvar
51054598 784.46 A G PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.16414 0.16410 0.20145 None None None None None None ATL1|0.525719843|14.74%
View 15ac02303_s1 genome 14 rs1060197
dbSNP Clinvar
51057727 3377.07 G A PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.82149 0.82150 0.20414 None None None None None None ATL1|0.525719843|14.74%

ATXN3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs16999141
dbSNP Clinvar
92549586 671.32 G A PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.56669 0.56670 0.45840 None None None None None None ATXN3|0.681306976|9.03%
View 15ac02303_s1 genome 14 rs763541221
dbSNP Clinvar
92537354 23263.03 C CC... PASS 1/2 93 CODON_INSERTION MODERATE None None None None None None None ATXN3|0.681306976|9.03%

BCL2L2-PABPN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs2231301
dbSNP Clinvar
23777099 2944.59 G A PASS 0/1 208 SYNONYMOUS_CODING LOW None 0.24900 0.24900 0.17871 None None None None None None BCL2L2|0.580284397|12.57%,BCL2L2-PABPN1|0.816191843|5.42%
View 15ac02303_s1 genome 14 rs910332
dbSNP Clinvar
23777374 4281.35 A G PASS 1/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.99940 0.99940 0.00231 0.54 0.00 None None None None None None BCL2L2|0.580284397|12.57%,BCL2L2-PABPN1|0.816191843|5.42%

BDKRB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs2071084
dbSNP Clinvar
96730142 9.8 A G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.83427 0.83430 0.13125 None None None None None None BDKRB1|0.016704422|76.07%

BDKRB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs5224
dbSNP Clinvar
96707457 2051.83 A G PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.85903 0.85900 0.11748 None None None None None None BDKRB2|0.06104553|59.58%

BEGAIN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 101004609 3.07 C A LowGQX;LowQD;SB 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None BEGAIN|0.056726964|60.75%

BMP4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs17563
dbSNP Clinvar
54417522 1299.39 A G PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.32568 0.32570 0.45002 0.72 0.01 None None None None None None BMP4|0.999824824|0.22%

BRF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs1020302194
dbSNP Clinvar
105688015 9.8 C A LowGQ;LowGQX;SB 1/1 2 STOP_GAINED HIGH None None None None None None None BRF1|0.023675116|72.34%

BRMS1L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 36334928 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.07 0.05 None None None None None None BRMS1L|0.659085399|9.74%

BTBD6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs2816605
dbSNP Clinvar
105715515 14.92 C T LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.15915 0.15910 0.19386 None None None None None None BRF1|0.023675116|72.34%,BTBD6|0.036822903|66.86%

C14orf144

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 104710741 14.91 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.99 None None None None None None C14orf144|0.000424095|98.81%
View 15ac02303_s1 genome 14 rs7141507
dbSNP Clinvar
104710651 9.8 C T LowGQ;LowGQX;SB 1/1 2 SYNONYMOUS_CODING LOW None 0.43670 0.43670 None None None None None None C14orf144|0.000424095|98.81%

C14orf166B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 77319634 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.60 None None None None None None LRRC74A|0.002256184|90.26%

C14orf37

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs3829765
dbSNP Clinvar
58605790 14.92 G A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.34125 0.34130 0.44726 0.07 0.70 None None None None None None C14orf37|0.012467911|78.91%
View 15ac02303_s1 genome 14 . 58605058 3.07 G T LowGQX;LowQD;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.01 None None None None None None C14orf37|0.012467911|78.91%

C14orf64

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 98435641 9.8 G T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None LINC01550|0.000788168|96.74%
View 15ac02303_s1 genome 14 rs2124843
dbSNP Clinvar
98435696 9.8 T C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.97963 0.97960 0.00 None None None None None None LINC01550|0.000788168|96.74%

C14orf80

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 105964954 7.08 G T LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01 0.64 None None None None None None C14orf80|0.002989896|88.65%

CATSPERB

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs1296082
dbSNP Clinvar
92088016 9.8 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.80032 0.80030 0.28856 None None None None None None CATSPERB|0.003317836|88.04%

CCDC175

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs4898996
dbSNP Clinvar
60043422 14.92 A G LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.93530 0.93530 0.10140 None None None None None None CCDC175|0.001072555|95.05%

CCDC85C

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs78395743
dbSNP Clinvar
100046373 9.8 A T LowGQ;LowGQX;SB 1/1 1 None None None 0.13658 0.13660 0.06 0.00 None None None None None None CCDC85C|0.125729045|46.53%

CCDC88C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs941920
dbSNP Clinvar
91739081 3801.87 A G PASS 0/1 338 NON_SYNONYMOUS_CODING MODERATE None 0.80591 0.80590 0.07727 0.52 0.00 None None None None None None CCDC88C|0.052356783|61.96%

CDC42BPB

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs8009219
dbSNP Clinvar
103440473 3629.13 G C PASS 0/1 275 SYNONYMOUS_CODING LOW None 0.00080 0.00080 0.41173 None None None None None None CDC42BPB|0.042098|65.08%

CDCA4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 105477951 7.08 A C LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.40 0.06 None None None None None None CDCA4|0.005169669|85.62%
View 15ac02303_s1 genome 14 . 105477978 7.08 A C LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.46 0.03 None None None None None None CDCA4|0.005169669|85.62%

CDH24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 23517561 9.8 C A LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.93 None None None None None None CDH24|0.171918773|40.07%

CEP170B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs2582548
dbSNP Clinvar
105354293 9.8 A G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.56370 0.56370 0.27267 None None None None None None CEP170B|0.008847309|81.8%
View 15ac02303_s1 genome 14 . 105354118 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None CEP170B|0.008847309|81.8%

CHD8

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs8022395
dbSNP Clinvar
21871653 3688.36 C T PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.90735 0.90730 0.05903 None None None None None None CHD8|0.616080012|11.24%

CHGA

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs9658655
dbSNP Clinvar
93398031 1435.05 G C PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.18351 0.18350 0.11610 0.12 0.18 None None None None None None CHGA|0.117443288|47.87%
View 15ac02303_s1 genome 14 rs941581
dbSNP Clinvar
93401178 2274.76 A G PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.79533 0.79530 0.26915 None None None None None None CHGA|0.117443288|47.87%

CHURC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 65381152 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.05 None None None None None None CHURC1|0.248656047|31.65%
View 15ac02303_s1 genome 14 . 65381135 14.92 G T LowGQ;LowGQX 1/1 2 START_LOST HIGH None 0.03 0.59 None None None None None None CHURC1|0.248656047|31.65%

CKB

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 103986499 3.16 C A LowGQX;LowQD;SB 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None CKB|0.155239483|42.26%

CMA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs5249
dbSNP Clinvar
24975435 3598.56 G T PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.92712 0.92710 0.06951 None None None None None None CMA1|0.012757297|78.68%

COCH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs1045644
dbSNP Clinvar
31355096 2070.87 C G PASS 0/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.41134 0.41130 0.48801 0.61 0.00 None None None None None None COCH|0.517420317|15.09%

COQ6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs8500
dbSNP Clinvar
74428445 1295.05 G A PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.34545 0.34540 0.38452 0.79 0.00 None None None None None None COQ6|0.155475963|42.22%,ENTPD5|0.24144342|32.32%
View 15ac02303_s1 genome 14 rs3180946
dbSNP Clinvar
74424938 1582.89 T C PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.18490 0.18490 0.30301 None None None None None None COQ6|0.155475963|42.22%,ENTPD5|0.24144342|32.32%

CPSF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 92608582 3.07 C A LowGQX;LowQD;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.97 None None None None None None CPSF2|0.34038476|24.84%

CRIP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 105939670 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.95 None None None None None None CRIP2|0.025608694|71.49%

CTAGE5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs7140561
dbSNP Clinvar
39736680 39.62 T C LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.91254 0.91250 0.05382 1.00 0.00 None None None None None None CTAGE5|0.090584554|53.11%
View 15ac02303_s1 genome 14 . 39764131 14.92 C A LowGQ;LowGQX 1/1 2 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None CTAGE5|0.090584554|53.11%

DACT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs17832998
dbSNP Clinvar
59112732 9.8 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.26957 0.26960 0.29952 0.21 0.01 None None None None None None DACT1|0.056768733|60.74%

DCAF5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 69522036 4.97 T A LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.31 None None None None None None DCAF5|0.210191779|35.55%

DHRS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 24113713 14.92 C A LowGQ;LowGQX 1/1 2 STOP_GAINED HIGH None None None None None None None DHRS2|0.006545091|84%

DHRS4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs773318677
dbSNP Clinvar
24436602 5.57 C A LowGQX;LowQD;SB 0/1 33 None None None 0.16 0.00 None None None None None None DHRS4|0.01129792|79.79%

DHRS4L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs45596131
dbSNP Clinvar
24459514 363.77 G A PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.01098 0.01098 None None None None None None DHRS4L2|0.007168249|83.32%
View 15ac02303_s1 genome 14 rs2273946
dbSNP Clinvar
24458162 3452.2 G C PASS 0/1 237 MOTIF[MA0095.1:Yy1] LOW None 0.67392 0.67390 0.48408 0.95 0.00 None None None None None None DHRS4L2|0.007168249|83.32%
View 15ac02303_s1 genome 14 rs45583341
dbSNP Clinvar
24459520 435.75 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.16274 0.16270 0.09157 None None None None None None DHRS4L2|0.007168249|83.32%
View 15ac02303_s1 genome 14 rs55795553
dbSNP Clinvar
24458236 3469.3 G A PASS 0/1 247 NON_SYNONYMOUS_CODING MODERATE None 0.02776 0.02776 0.04031 0.22 0.00 None None None None None None DHRS4L2|0.007168249|83.32%
View 15ac02303_s1 genome 14 rs45534140
dbSNP Clinvar
24459428 780.38 A G PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.01058 0.01058 0.01047 1.00 0.00 None None None None None None DHRS4L2|0.007168249|83.32%

DIO2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs225014
dbSNP Clinvar
80669580 4175.64 T C PASS 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.45807 0.45810 0.38768 0.78 0.00 None None None None None None DIO2|0.575178491|12.81%

DLGAP5

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 15ac02303_s1 genome 14 . 55615155 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None DLGAP5|0.057484554|60.57%

DLK1

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 15ac02303_s1 genome 14 . 101194746 9.31 C A LowGQ;LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.71 0.00 None None None None None None DLK1|0.343333567|24.61%
View 15ac02303_s1 genome 14 rs1802710
dbSNP Clinvar
101200645 7.08 T C LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.74321 0.74320 0.41765 None None None None None None DLK1|0.343333567|24.61%

DNAAF2

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 15ac02303_s1 genome 14 rs2985684
dbSNP Clinvar
50101682 6957.41 C G PASS 1/1 215 NON_SYNONYMOUS_CODING MODERATE None 0.49321 0.49320 0.28662 0.07 0.99 None None None None None None DNAAF2|0.034155944|67.73%
View 15ac02303_s1 genome 14 rs2985685
dbSNP Clinvar
50101370 7685.93 G A PASS 1/1 265 SYNONYMOUS_CODING LOW None 0.49341 0.49340 0.31475 None None None None None None DNAAF2|0.034155944|67.73%
View 15ac02303_s1 genome 14 rs2985686
dbSNP Clinvar
50100683 2111.39 C G PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.55911 0.55910 None None None None None None DNAAF2|0.034155944|67.73%
View 15ac02303_s1 genome 14 rs2985687
dbSNP Clinvar
50100386 8170.81 T C PASS 1/1 253 SYNONYMOUS_CODING LOW None 0.48822 0.48820 0.33364 None None None None None None DNAAF2|0.034155944|67.73%
View 15ac02303_s1 genome 14 rs9989177
dbSNP Clinvar
50092471 4387.46 T C PASS 0/1 364 NON_SYNONYMOUS_CODING MODERATE None 0.30871 0.30870 0.42073 0.08 0.37 None None None None None None DNAAF2|0.034155944|67.73%

DTD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs61754291
dbSNP Clinvar
31922515 9.8 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.01058 0.01058 0.02953 None None None None None None DTD2|0.133741087|45.33%

ELMSAN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs17782128
dbSNP Clinvar
74205878 121.58 C T LowGQ;LowGQX;SB 1/1 5 SYNONYMOUS_CODING LOW None 0.15176 0.15180 0.14924 None None None None None None ELMSAN1|0.126163876|46.42%
View 15ac02303_s1 genome 14 rs17782124
dbSNP Clinvar
74203789 14.92 G A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.15296 0.15300 0.15001 0.32 0.00 None None None None None None ELMSAN1|0.126163876|46.42%
View 15ac02303_s1 genome 14 rs2075025
dbSNP Clinvar
74196686 7.08 T C LowGQ;LowGQX;SB 1/1 1 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.60403 0.60400 0.44585 None None None None None None ELMSAN1|0.126163876|46.42%
View 15ac02303_s1 genome 14 . 74205815 7.08 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None ELMSAN1|0.126163876|46.42%

EMC9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 24608245 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.42 0.00 None None None None None None EMC9|0.266809528|30.13%

EML1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 100317258 4.97 C A LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.99 None None None None None None EML1|0.098126784|51.51%

EML5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 rs766503769
dbSNP Clinvar
89192953 14.92 A G LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None EML5|0.261544154|30.61%

ESR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 14 . 64746848 3.16 C A LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None ESR2|0.956786277|2.04%