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+ Genes 335

Genes:
ABCD4, ABHD12B, ACIN1, ACOT2, ACOT4, ACYP1, ADAM21, ADCK1, ADSSL1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AL139099.1, ALKBH1, APEX1, APOPT1, ARHGEF40, ARID4A, ASB2, ASPG, ATG2B, ATL1, ATP5S, ATXN3, BAZ1A, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BTBD6, BTBD7, C14orf105, C14orf159, C14orf166B, C14orf178, C14orf180, C14orf182, C14orf37, C14orf39, C14orf79, C14orf80, CATSPERB, CCDC175, CCDC176, CCDC177, CCDC85C, CCDC88C, CCNB1IP1, CDC42BPB, CDCA4, CDKL1, CEP128, CEP170B, CGRRF1, CHD8, CHGA, CHMP4A, CINP, CKB, CLMN, CMA1, CMTM5, COCH, COQ6, CPNE6, CRIP1, CTAGE5, DAAM1, DCAF5, DDHD1, DEGS2, DHRS1, DIO2, DLK1, DLST, DNAAF2, DPF3, DTD2, DYNC1H1, EDDM3B, EFCAB11, EFS, EIF5, ELMSAN1, EML1, ENTPD5, ERO1L, ESRRB, EVL, EXD2, EXOC3L4, FAM161B, FAM181A, FBLN5, FBXO33, FERMT2, FLRT2, FLVCR2, FOS, FOXA1, FRMD6, FSCB, FUT8, GALC, GOLGA5, GPATCH2L, GPR135, GPR137C, GPR33, GPR65, GSTZ1, GZMB, HEATR4, HEATR5A, HECTD1, HHIPL1, HOMEZ, HSP90AA1, HSPA2, IFI27, IGHV4-28, IGHV4-31, IGHV4-4, IGHV4-61, INF2, INSM2, IPO4, IRF2BPL, ISM2, JAG2, JDP2, KCNH5, KCNK10, KHNYN, KIAA0391, KIAA0586, KIF26A, KLHDC1, KLHL33, KTN1, L2HGDH, L3HYPDH, LGMN, LRFN5, LRR1, LRRC16B, LTB4R2, LTBP2, MAP3K9, MARK3, MBIP, MDGA2, METTL17, METTL3, MIA2, MLH3, MMP14, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NDRG2, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NRDE2, NRXN3, NYNRIN, OR10G3, OR11G2, OR11H12, OR11H4, OR11H6, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K2, OR4L1, OR4N2, OR4Q3, OR5AU1, OR6S1, OTUB2, OXA1L, PACS2, PAPLN, PAPOLA, PARP2, PAX9, PCK2, PCNX, PCNXL4, PIGH, PLEKHG3, PLEKHH1, PNN, POLE2, POMT2, POTEG, POTEM, PPP1R13B, PPP1R36, PPP2R5C, PRIMA1, PRKCH, PRKD1, PSMC1, PSME2, PTGER2, PTGR2, PTPN21, PYGL, RABGGTA, RBM23, RCOR1, REC8, REM2, RGS6, RIN3, RIPK3, RNASE11, RNASE13, RNASE3, RNASE4, RNASE7, RNASE8, RNASE9, RNF31, RPGRIP1, RPL36AL, RTL1, RTN1, SALL2, SAMD15, SAMD4A, SDR39U1, SEC23A, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SIPA1L1, SIX4, SIX6, SLC24A4, SLC25A21, SLC25A21-AS1, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC8A3, SLIRP, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SSTR1, STON2, STRN3, SUPT16H, SYNDIG1L, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TDP1, TDRD9, TECPR2, TEP1, TEX22, TGM1, TM9SF1, TMED8, TMEM121, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TRAF3, TRIM9, TRIP11, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, UNC79, VASH1, VRK1, VRTN, VSX2, WARS, WDR25, XRCC3, YLPM1, YY1, ZBTB1, ZBTB42, ZFHX2, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839,

+ Genes associated with diseases 74

Genes at Omim

ABCD4, ADSSL1, AK7, APOPT1, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DDHD1, DYNC1H1, EML1, ESRRB, FBLN5, FLVCR2, FUT8, GALC, GSTZ1, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MARK3, MLH3, MMP14, MTHFD1, MYH6, MYH7, NEK9, NFKBIA, NIN, PACS2, PAX9, PCK2, PIGH, POMT2, PRKCH, PRKD1, PTGER2, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX6, SLC24A4, SLC7A7, SOS2, SPATA7, SPTB, SPTLC2, SYNE2, TDP1, TDRD9, TECPR2, TGM1, TMEM260, TRAF3, TRIP11, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, YY1, ZBTB42, ZFHX2, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ADSSL1 Myopathy, distal, 5, 617030 (3)
AK7 ?Spermatogenic failure 27, 617965 (3)
APOPT1 Mitochondrial complex IV deficiency, 220110 (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)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
EML1 Band heterotopia, 600348 (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)
FLVCR2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC Krabbe disease, 245200 (3)
GSTZ1 [Maleylacetoacetate isomerase deficiency], 617596 (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)
MARK3 ?Visual impairment and progressive phthisis bulbi, 618283 (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)
NEK9 Lethal congenital contracture syndrome 10, 617022 (3)
Nevus comedonicus, somatic, 617025 (3)
?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)
NFKBIA Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
NIN ?Seckel syndrome 7, 614851 (3)
PACS2 Epileptic encephalopathy, early infantile, 66, 618067 (3)
PAX9 Tooth agenesis, selective, 3, 604625 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
PIGH Glycosylphosphatidylinositol biosynthesis defect 17, 618010 (3)
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)
PTGER2 {Asthma, aspirin-induced, susceptibility to}, 208550 (3)
PYGL Glycogen storage disease VI, 232700 (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)
SLC24A4 Amelogenesis imperfecta, type IIA5, 615887 (3)
[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3)
[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SOS2 Noonan syndrome 9, 616559 (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)
TDP1 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)
TDRD9 ?Spermatogenic failure 30, 618110 (3)
TECPR2 Spastic paraplegia 49, autosomal recessive, 615031 (3)
TGM1 Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
TMEM260 Structural heart defects and renal anomalies syndrome, 617478 (3)
TRAF3 {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
TRIP11 Achondrogenesis, type IA, 200600 (3)
Osteochondrodysplasia, 184260 (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)
YY1 Gabriele-de Vries syndrome, 617557 (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, APOPT1, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, DYNC1H1, ESRRB, FBLN5, FLVCR2, GALC, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, NIN, PAX9, POMT2, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX6, SLC24A4, SLC7A7, SOS2, SPATA7, SPTB, SYNE2, TDP1, TECPR2, TGM1, TRAF3, TRIP11, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
APOPT1 Mitochondrial complex IV deficiency
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
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 2O
Mental retardation, autosomal dominant 13
Spinal muscular atrophy, lower extremity, autosomal dominant
ESRRB Deafness, autosomal recessive 35
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
FLVCR2 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
GALC Krabbe disease
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
NFKBIA Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
NIN Seckel syndrome 7
PAX9 Tooth agenesis, selective, 3
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
PYGL Glycogen storage disease VI
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
SLC24A4 Ameliogenesis imperfecta, hypomaturation type, IIA5
SLC7A7 Lysinuric protein intolerance
SOS2 Noonan syndrome 9
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
TDP1 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
TECPR2 Spastic paraplegia 49, autosomal recessive
TGM1 Ichthyosis, congenital, autosomal recessive 1
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TRIP11 Achondrogenesis, type IA
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: 6521
Number of Genes: 335

Export to: CSV
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 rbna2s annoted 14 rs530018193
dbSNP Clinvar 		69925991 51.0 A G . 0/1 0 None None None 0.00020 0.00020 None None None None None None SLC39A9|0.369770264|22.72%
View rbna2s annoted 14 rs544445697
dbSNP Clinvar 		59261412 53.0 G A . 0/1 0 None None None 0.00020 0.00020 None None None None None None None
View rbna2s annoted 14 rs545016320
dbSNP Clinvar 		47327792 45.0 G A . 1/1 0 None None None 0.00020 0.00020 None None None None None None MDGA2|0.669410777|9.39%
View rbna2s annoted 14 rs188648993
dbSNP Clinvar 		28640532 42.0 C T . 1/1 0 None None None 0.00020 0.00020 None None None None None None None
View rbna2s annoted 14 rs552067497
dbSNP Clinvar 		96174690 39.0 G A . 0/1 0 None None None 0.00020 0.00020 None None None None None None None
View rbna2s annoted 14 rs568549943
dbSNP Clinvar 		94953564 55.0 G A . 0/1 0 None None None 0.00020 0.00020 None None None None None None None
View rbna2s annoted 14 rs201575181
dbSNP Clinvar 		64676610 52.0 C T . 0/1 0 None None None 0.00020 0.00020 0.00077 None None None None None None SYNE2|0.091751196|52.87%,ESR2|0.956786277|2.04%

FOS
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 rbna2s annoted 14 rs144239514
dbSNP Clinvar 		75746597 54.0 G A . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 0.00092 None None None None None None FOS|0.999986398|0.08%
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 rbna2s annoted 14 rs140001583
dbSNP Clinvar 		75602333 64.0 G T . 0/1 0 None None None 0.00020 0.00020 None None None None None None TMED10|0.549210568|13.76%
View rbna2s annoted 14 rs201182813
dbSNP Clinvar 		75590710 53.0 A G . 0/1 0 None None None 0.00020 0.00020 None None None None None None NEK9|0.662585461|9.62%

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 rbna2s annoted 14 rs146234347
dbSNP Clinvar 		74206611 49.0 G C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.47 0.01 None None None None None None ELMSAN1|0.126163876|46.42%
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 rbna2s annoted 14 rs571811864
dbSNP Clinvar 		78375794 37.0 A G . 1/1 0 None None None 0.00040 0.00040 None None None None None None ADCK1|0.142961952|44%
View rbna2s annoted 14 rs11442995,rs397797137
dbSNP Clinvar 		21852241 58.0 G GT . 1/1 0 None None None 0.00040 0.53000 None None None None None None SUPT16H|0.372618342|22.56%
View rbna2s annoted 14 rs542517058
dbSNP Clinvar 		23897617 65.0 T C . 0/1 0 None None None 0.00040 0.00040 None None None None None None MYH7|0.534444038|14.41%
View rbna2s annoted 14 rs143288964
dbSNP Clinvar 		88859930 61.0 ATATG A . 1/1 0 None None None 0.00040 0.03894 None None None None None None SPATA7|0.017610507|75.54%
View rbna2s annoted 14 rs192558538
dbSNP Clinvar 		103418705 56.0 A T . 0/1 0 None None None 0.00040 0.00040 None None None None None None CDC42BPB|0.042098|65.08%
View rbna2s annoted 14 rs183178678
dbSNP Clinvar 		61544803 39.0 C T . 0/1 0 None None None 0.00040 0.00040 None None None None None None SLC38A6|0.319568584|26.17%
View rbna2s annoted 14 rs576593201
dbSNP Clinvar 		102209393 37.0 G A . 0/1 0 None None None 0.00040 0.00040 None None None None None None None
View rbna2s annoted 14 rs7143186
dbSNP Clinvar 		50713679 67.0 T G . 1/1 0 None None None 0.00040 0.00040 None None None None None None L2HGDH|0.085412755|54.08%
View rbna2s annoted 14 rs374069351
dbSNP Clinvar 		102011717 41.0 G A . 0/1 0 None None None 0.00040 0.00040 None None None None None None None
View rbna2s annoted 14 rs117475261
dbSNP Clinvar 		32319249 67.0 A G . 0/1 0 None None None 0.00040 0.00040 None None None None None None NUBPL|0.359363492|23.47%

SLC25A47
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View rbna2s annoted 14 rs35007880
dbSNP Clinvar 		100795139 56.0 G T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.35117 0.17 0.54 None None None None None None SLC25A47|0.051216559|62.27%
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 rbna2s annoted 14 rs559171052
dbSNP Clinvar 		19720122 48.0 C T . 0/1 0 None None None 0.00040 0.00040 None None None None None None None
View rbna2s annoted 14 rs76630747,rs398099432
dbSNP Clinvar 		68028815 59.0 CG C . 1/1 0 None None None 0.00040 0.19410 0.22792 None None None None None None PLEKHH1|0.065091772|58.61%

DDHD1
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 rbna2s annoted 14 rs4898778
dbSNP Clinvar 		53529669 65.0 A T . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.00040 0.00040 0.23166 None None None None None None DDHD1|0.165614738|40.86%
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 rbna2s annoted 14 rs77434589
dbSNP Clinvar 		19118192 52.0 A G . 0/1 0 None None None 0.00040 0.00040 None None None None None None None
View rbna2s annoted 14 rs139771860
dbSNP Clinvar 		104498530 64.0 AT... A . 0/1 0 None None None 0.00060 0.38640 None None None None None None TDRD9|0.024054474|72.2%
View rbna2s annoted 14 rs28441086
dbSNP Clinvar 		65259621 58.0 C A . 0/1 0 None None None 0.00060 0.05371 None None None None None None SPTB|0.549426121|13.74%
View rbna2s annoted 14 rs5809225,rs34967796,rs3034336
dbSNP Clinvar 		64746933 62.0 G GA . 1/1 0 None None None 0.00060 0.55110 None None None None None None ESR2|0.956786277|2.04%
View rbna2s annoted 14 rs1744300
dbSNP Clinvar 		104571826 62.0 A G . 1/1 0 None None None 0.00060 0.00060 0.03572 None None None None None None ASPG|0.008786822|81.87%
View rbna2s annoted 14 rs4901064
dbSNP Clinvar 		51370784 63.0 G C . 1/1 0 None None None 0.00060 0.00060 0.17838 None None None None None None PYGL|0.75708561|6.92%,ABHD12B|0.032837943|68.22%
View rbna2s annoted 14 rs533850242
dbSNP Clinvar 		34624969 38.0 G A . 0/1 0 None None None 0.00060 0.00060 None None None None None None EGLN3|0.909376236|3.26%
View rbna2s annoted 14 rs4983134
dbSNP Clinvar 		20137939 61.0 A G . 1/1 0 None None None 0.00060 0.86680 None None None None None None None
View rbna2s annoted 14 rs36031495,rs796222014
dbSNP Clinvar 		39796048 66.0 GT G . 1/1 0 None None None 0.00060 0.90750 None None None None None None CTAGE5|0.090584554|53.11%
View rbna2s annoted 14 rs566804926
dbSNP Clinvar 		43769543 62.0 T C . 0/1 0 None None None 0.00060 0.00060 None None None None None None None
View rbna2s annoted 14 rs375892601
dbSNP Clinvar 		74539324 27.0 AC A . 0/1 0 None None None 0.00060 0.00060 None None None None None None CCDC176|0.078509852|55.53%,ALDH6A1|0.408047315|20.3%

AHNAK2
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 rbna2s annoted 14 rs180896416
dbSNP Clinvar 		105416838 50.0 C A . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.00060 0.02636 None None None None None None AHNAK2|0.000253171|99.62%

MYH7
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 rbna2s annoted 14 rs36211716
dbSNP Clinvar 		23893269 52.0 G A . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.00060 0.00060 0.00038 None None None None None None MYH7|0.534444038|14.41%
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 rbna2s annoted 14 rs181831802
dbSNP Clinvar 		89093420 43.0 T C . 0/1 0 None None None 0.00060 0.00060 0.00347 None None None None None None EML5|0.261544154|30.61%
View rbna2s annoted 14 rs2095804
dbSNP Clinvar 		70956775 37.0 G C . 0/1 0 None None None 0.00060 0.00060 None None None None None None None
View rbna2s annoted 14 rs184312725
dbSNP Clinvar 		89063366 42.0 C T . 0/1 0 None None None 0.00060 0.00060 None None None None None None ZC3H14|0.454776108|17.95%
View rbna2s annoted 14 rs376823899
dbSNP Clinvar 		19031031 36.0 C T . 0/1 0 None None None 0.00060 0.00060 None None None None None None None
View rbna2s annoted 14 rs1950501
dbSNP Clinvar 		24806800 46.0 G C . 0/1 0 None None None 0.00080 0.43110 0.49616 None None None None None None RIPK3|0.001720654|91.79%
View rbna2s annoted 14 rs5809479,rs398077850,rs796662723
dbSNP Clinvar 		70712324 60.0 CA C . 1/1 0 None None None 0.00080 0.94530 None None None None None None None

CRIP1
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 rbna2s annoted 14 rs1128308
dbSNP Clinvar 		105954682 59.0 C G . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.00080 0.00080 0.18118 None None None None None None CRIP1|0.052587469|61.88%

CDC42BPB
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 rbna2s annoted 14 rs8009219
dbSNP Clinvar 		103440473 56.0 G C . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.00080 0.00080 0.41173 None None None None None None CDC42BPB|0.042098|65.08%
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 rbna2s annoted 14 rs550005519
dbSNP Clinvar 		89041390 60.0 C T . 0/1 0 None None None 0.00080 0.00080 None None None None None None ZC3H14|0.454776108|17.95%

C14orf39
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 rbna2s annoted 14 rs11625921
dbSNP Clinvar 		60923783 60.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00080 0.00080 0.02015 0.21 0.00 None None None None None None C14orf39|0.111454646|48.96%
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 rbna2s annoted 14 rs560686157
dbSNP Clinvar 		53339755 69.0 G A . 0/1 0 None None None 0.00080 0.00080 None None None None None None FERMT2|0.571475948|12.9%
View rbna2s annoted 14 rs78149614,rs386382138,rs386382139,rs5810520
dbSNP Clinvar 		91196288 71.0 G GA . 1/1 0 None None None 0.00080 0.79450 None None None None None None TTC7B|0.258636682|30.86%
View rbna2s annoted 14 rs35525726,rs397774177,rs397781532
dbSNP Clinvar 		35295143 65.0 C CA . 0/1 0 None None None 0.00080 0.54850 None None None None None None BAZ1A|0.477260471|16.88%
View rbna2s annoted 14 rs7151729
dbSNP Clinvar 		55878636 60.0 G C . 1/1 0 None None None 0.00080 0.99920 None None None None None None None
View rbna2s annoted 14 rs373211845
dbSNP Clinvar 		86729256 53.0 C T . 0/1 0 None None None 0.00080 0.00080 None None None None None None None
View rbna2s annoted 14 rs33973037
dbSNP Clinvar 		67807242 61.0 TA T . 0/1 0 None None None 0.00080 0.59800 0.48003 None None None None None None ATP6V1D|0.542760339|14.1%
View rbna2s annoted 14 rs699370
dbSNP Clinvar 		74989119 48.0 T C . 1/1 0 None None None 0.00080 0.00080 None None None None None None LTBP2|0.184719306|38.39%
View rbna2s annoted 14 rs2242526
dbSNP Clinvar 		21971729 63.0 C G . 1/1 0 None None None 0.00100 0.42450 0.43995 None None None None None None METTL3|0.496538659|16.01%
View rbna2s annoted 14 rs181145989
dbSNP Clinvar 		96761679 55.0 G A . 0/1 0 None None None 0.00100 0.00100 None None None None None None ATG2B|0.10842436|49.47%
View rbna2s annoted 14 rs144470602
dbSNP Clinvar 		103436118 38.0 A ACG . 1/1 0 None None None 0.00100 0.00100 None None None None None None CDC42BPB|0.042098|65.08%
View rbna2s annoted 14 rs12886342
dbSNP Clinvar 		90863489 68.0 G A . 1/1 0 None None None 0.00100 0.71610 0.21078 None None None None None None CALM1|0.999937868|0.15%
View rbna2s annoted 14 rs566323598
dbSNP Clinvar 		89151227 62.0 T C . 0/1 0 None None None 0.00100 0.00100 None None None None None None EML5|0.261544154|30.61%
View rbna2s annoted 14 rs199809774
dbSNP Clinvar 		89123864 56.0 G A . 0/1 0 None None None 0.00100 0.00100 0.00136 None None None None None None EML5|0.261544154|30.61%
View rbna2s annoted 14 rs566928262
dbSNP Clinvar 		60244548 40.0 A C . 1/1 0 None None None 0.00100 0.00100 None None None None None None RTN1|0.702724377|8.43%
View rbna2s annoted 14 rs186095942
dbSNP Clinvar 		89024344 36.0 C T . 0/1 0 None None None 0.00100 0.00100 None None None None None None None
View rbna2s annoted 14 rs7150249
dbSNP Clinvar 		50255622 57.0 T G . 1/1 0 None None None 0.00100 0.00100 None None None None None None NEMF|0.380917751|21.98%
View rbna2s annoted 14 rs11622863
dbSNP Clinvar 		24795258 63.0 C T,G . 1/1 0 None None None 0.00100 0.00100 0.23205 None None None None None None ADCY4|0.342968344|24.64%

SYNE2
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 rbna2s annoted 14 rs150172232
dbSNP Clinvar 		64689913 65.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00100 0.00100 0.00077 0.11 0.23 None None None None None None SYNE2|0.091751196|52.87%,ESR2|0.956786277|2.04%
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 rbna2s annoted 14 rs143366296
dbSNP Clinvar 		94421047 62.0 C G . 0/1 0 None None None 0.00100 0.00100 None None None None None None ASB2|0.131824124|45.65%
View rbna2s annoted 14 rs185345852
dbSNP Clinvar 		36299016 62.0 A G . 0/1 0 None None None 0.00100 0.00100 None None None None None None BRMS1L|0.659085399|9.74%

TMEM63C
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 rbna2s annoted 14 rs199846522
dbSNP Clinvar 		77706888 47.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00100 0.00100 0.00377 0.08 0.07 None None None None None None TMEM63C|0.00280742|89.01%
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 rbna2s annoted 14 rs177385
dbSNP Clinvar 		73730290 62.0 C A . 0/1 0 None None None 0.00120 0.66530 None None None None None None PAPLN|0.01443806|77.52%

PRIMA1
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 rbna2s annoted 14 rs4900195
dbSNP Clinvar 		94245652 57.0 C T . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.00120 0.00120 0.45092 None None None None None None PRIMA1|0.297618902|27.83%
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 rbna2s annoted 14 rs374900092
dbSNP Clinvar 		72939541 63.0 A G . 0/1 0 None None None 0.00120 0.00120 0.00108 None None None None None None RGS6|0.590032694|12.13%
View rbna2s annoted 14 rs188025466
dbSNP Clinvar 		23938741 71.0 A G . 0/1 0 None None None 0.00120 0.00120 None None None None None None None
View rbna2s annoted 14 rs11627644
dbSNP Clinvar 		56334804 36.0 G T . 0/1 0 None None None 0.00120 0.00120 None None None None None None None
View rbna2s annoted 14 rs148719748
dbSNP Clinvar 		55617414 64.0 G A . 0/1 0 None None None 0.00120 0.00120 None None None None None None DLGAP5|0.057484554|60.57%
View rbna2s annoted 14 rs369232
dbSNP Clinvar 		69328926 59.0 A C . 1/1 0 None None None 0.00120 0.99300 None None None None None None None
View rbna2s annoted 14 rs2236339
dbSNP Clinvar 		64061825 59.0 C A . 0/1 0 None None None 0.00120 0.12380 None None None None None None None
View rbna2s annoted 14 rs147528258
dbSNP Clinvar 		89029317 75.0 C G . 0/1 0 START_GAINED LOW 0.00120 0.00120 None None None None None None ZC3H14|0.454776108|17.95%
View rbna2s annoted 14 rs200262972
dbSNP Clinvar 		88971756 51.0 T C . 0/1 0 None None None 0.00120 0.00120 0.00208 None None None None None None PTPN21|0.108021444|49.58%

PTPN21
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 rbna2s annoted 14 rs142741285
dbSNP Clinvar 		88945969 52.0 C A . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.00120 0.00120 0.00200 None None None None None None PTPN21|0.108021444|49.58%
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 rbna2s annoted 14 rs565578195
dbSNP Clinvar 		88935204 62.0 CT C . 0/1 0 None None None 0.00120 0.00120 None None None None None None SPATA7|0.017610507|75.54%,PTPN21|0.108021444|49.58%
View rbna2s annoted 14 rs117538793
dbSNP Clinvar 		59261159 40.0 C G . 0/1 0 None None None 0.00120 0.00120 None None None None None None None
View rbna2s annoted 14 rs182136891
dbSNP Clinvar 		63902743 37.0 C T . 0/1 0 None None None 0.00140 0.00140 None None None None None None PPP2R5E|0.887852202|3.76%
View rbna2s annoted 14 rs11629297
dbSNP Clinvar 		103840904 57.0 C G . 0/1 0 None None None 0.00140 0.44090 None None None None None None None
View rbna2s annoted 14 rs556761581
dbSNP Clinvar 		105167454 43.0 G T . 0/1 0 None None None 0.00140 0.00140 None None None None None None INF2|0.011319835|79.76%
View rbna2s annoted 14 rs181670188
dbSNP Clinvar 		35984714 37.0 G C . 1/1 0 None None None 0.00140 0.00639 None None None None None None None
View rbna2s annoted 14 rs74669418
dbSNP Clinvar 		95676985 67.0 A G . 0/1 0 None None None 0.00140 0.00140 None None None None None None CLMN|0.046085386|63.88%

AHNAK2
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 rbna2s annoted 14 rs10134675
dbSNP Clinvar 		105415229 52.0 T C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00140 0.28230 1.00 0.01 None None None None None None AHNAK2|0.000253171|99.62%
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 rbna2s annoted 14 rs41317326
dbSNP Clinvar 		24530265 50.0 G A . 0/1 0 None None None 0.00140 0.00140 None None None None None None LRRC16B|0.163892643|41.04%
View rbna2s annoted 14 rs185921532
dbSNP Clinvar 		39796310 51.0 A T . 0/1 0 None None None 0.00160 0.00160 None None None None None None CTAGE5|0.090584554|53.11%
View rbna2s annoted 14 rs2415539
dbSNP Clinvar 		39784014 50.0 A G . 1/1 0 None None None 0.00160 0.70190 0.47535 None None None None None None CTAGE5|0.090584554|53.11%

TMEM121
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 rbna2s annoted 14 rs10569304
dbSNP Clinvar 		105996049 59.0 TGCC T . 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.00160 0.41070 0.38963 None None None None None None TMEM121|0.07505457|56.29%
Omim - GeneCards - NCBI
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 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View rbna2s annoted 14 rs182519337
dbSNP Clinvar 		102335200 36.0 C T . 0/1 0 None None None 0.00160 0.00160 None None None None None None PPP2R5C|0.180255091|39.02%
View rbna2s annoted 14 rs149460563
dbSNP Clinvar 		21679762 50.0 A T . 0/1 0 None None None 0.00160 0.00160 0.00470 None None None None None None HNRNPC|0.913271139|3.15%
View rbna2s annoted 14 rs114782468
dbSNP Clinvar 		95267060 52.0 A C . 0/1 0 None None None 0.00180 0.00180 None None None None None None None

AHNAK2
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 rbna2s annoted 14 rs55791176
dbSNP Clinvar 		105418344 74.0 T G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00180 0.00180 0.48995 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
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 rbna2s annoted 14 rs139822631
dbSNP Clinvar 		50269041 59.0 C T . 0/1 0 None None None 0.00180 0.00180 None None None None None None NEMF|0.380917751|21.98%
View rbna2s annoted 14 rs142794623
dbSNP Clinvar 		102880688 42.0 A T . 1/1 0 None None None 0.00180 0.00180 None None None None None None TECPR2|0.022330216|73.01%

LTB4R2
Omim - GeneCards - NCBI
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 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View rbna2s annoted 14 rs374257326
dbSNP Clinvar 		24780426 61.0 ACT A . 0/1 0 FRAME_SHIFT HIGH 0.00180 0.00180 0.00008 None None None None None None CIDEB|0.11900761|47.58%,LTB4R2|0.095957768|51.94%
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 rbna2s annoted 14 rs11399265,rs397735365
dbSNP Clinvar 		60581309 65.0 G GT . 1/1 0 None None None 0.00200 0.65260 None None None None None None PCNXL4|0.137810301|44.72%