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+ Genes 261

Genes:
ABCA1, ABCA2, ADAMTS13, ADAMTSL1, ADAMTSL2, AIF1L, AK1, AKNA, ALDH1B1, ANGPTL2, ANKRD18B, AQP7, ARHGEF39, ARID3C, ARRDC1, ASB6, ASPN, ASS1, ASTN2, BAAT, BRD3, BRINP1, BSPRY, C8G, C9orf114, C9orf117, C9orf129, C9orf131, C9orf152, C9orf163, C9orf171, C9orf172, C9orf66, C9orf69, C9orf96, CA9, CACFD1, CACNA1B, CARD9, CCDC107, CCDC180, CCDC183, CCIN, CDK20, CDK5RAP2, CEP78, CNTLN, CNTNAP3, CNTNAP3B, COL15A1, COL27A1, COL5A1, COQ4, CRAT, CRB2, DAPK1, DBH, DDX31, DFNB31, DMRT1, DNM1, DOCK8, DPM2, DPP7, ECM2, EGFL7, EHMT1, ENDOG, ENTPD8, ERMP1, EXD3, FAM102A, FAM120A, FAM154A, FAM205A, FAM214B, FAM221B, FAM73B, FAM78A, FBP1, FBP2, FBXO10, FCN1, FCN2, FGD3, FIBCD1, FKBP15, FNBP1, FOCAD, FOXD4, FREM1, FRMPD1, FXN, GALT, GBA2, GLIS3, GLT6D1, GNA14, GOLGA1, GPR107, GPR144, GPSM1, GRIN3A, IFNA21, IFNA4, IFNB1, IFNW1, IFT74, IKBKAP, IL33, INPP5E, KANK1, KCNT1, KIAA0020, KIAA1161, KIF24, KIF27, LAMC3, LCN12, LHX2, LMX1B, LRRC8A, LRSAM1, LURAP1L, MAMDC2, MAMDC4, MAN1B1, MAPKAP1, MOB3B, MPDZ, MRPS2, NAA35, NACC2, NEK6, NINJ1, NIPSNAP3A, NOTCH1, NOXA1, NPR2, NR5A1, NTNG2, NUP188, NUTM2F, OBP2A, OLFM1, OLFML2A, OR13C3, OR13F1, OR13J1, OR1B1, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, OR2S2, ORM1, PAPPA, PCSK5, PHYHD1, PIGO, PIP5K1B, PIP5KL1, PMPCA, PNPLA7, POMT1, PPAPDC3, PPP1R26, PPP6C, PRRC2B, PRSS3, PRUNE2, PSAT1, PTCH1, PTGDS, PTGES, PTGS1, QRFP, RABL6, RAD23B, RALGDS, RAPGEF1, RASEF, RC3H2, RGS3, RLN1, RNF20, RNF224, ROR2, RUSC2, SARDH, SDCCAG3, SEC16A, SEMA4D, SETX, SH2D3C, SHB, SHC3, SLC1A1, SLC24A2, SLC25A25, SLC28A3, SLC2A6, SLC2A8, SLC34A3, SLC46A2, SMARCA2, SMC5, SNAPC4, SNX30, SOHLH1, SPAG8, SPATA31A6, SPATA31D1, SPATA31E1, SPTAN1, STX17, SURF1, SURF2, SUSD3, SVEP1, TAF1L, TBC1D13, TEK, TJP2, TLE1, TLE4, TLN1, TMEM8C, TNC, TOMM5, TOR2A, TPD52L3, TRPM3, TRPM6, TTC16, TTF1, TUSC1, UAP1L1, UBAC1, UBAP2, UBQLN1, UCK1, UHRF2, USP20, VAV2, WDR34, WDR38, WDR5, WNK2, ZBTB43, ZBTB5, ZCCHC6, ZDHHC12, ZFP37, ZNF169, ZNF189, ZNF462, ZNF79,

+ Genes associated with diseases 63

Genes at Omim

ABCA1, ADAMTS13, ADAMTSL2, AK1, AQP7, ASPN, ASS1, BAAT, CACNA1B, CARD9, CDK5RAP2, CEP78, COL27A1, COL5A1, COQ4, CRAT, CRB2, DBH, DNM1, DOCK8, DPM2, EHMT1, FBP1, FREM1, FXN, GALT, GBA2, GLIS3, IFT74, IKBKAP, INPP5E, KANK1, KCNT1, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MRPS2, NOTCH1, NPR2, NR5A1, PIGO, PMPCA, POMT1, PSAT1, PTCH1, ROR2, RUSC2, SARDH, SETX, SLC1A1, SLC34A3, SMARCA2, SOHLH1, SPTAN1, SURF1, TEK, TJP2, TNC, TRPM6, WDR34,
ABCA1 HDL deficiency, type 2, 604091 (3)
Tangier disease, 205400 (3)
{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
AK1 Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ASS1 Citrullinemia, 215700 (3)
BAAT Hypercholanemia, familial, 607748 (3)
CACNA1B ?Dystonia 23, 614860 (3)
CARD9 Candidiasis, familial, 2, autosomal recessive, 212050 (3)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
CEP78 Cone-rod dystrophy and hearing loss, 617236 (3)
COL27A1 Steel syndrome, 615155 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 (3)
CRAT ?Neurodegeneration with brain iron accumulation 8, 617917 (3)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DNM1 Epileptic encephalopathy, early infantile, 31, 616346 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DPM2 Congenital disorder of glycosylation, type Iu, 615042 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FXN Friedreich ataxia with retained reflexes, 229300 (3)
Friedreich ataxia, 229300 (3)
GALT Galactosemia, 230400 (3)
GBA2 Spastic paraplegia 46, autosomal recessive, 614409 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
IKBKAP Dysautonomia, familial, 223900 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNT1 Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
Epileptic encephalopathy, early infantile, 14, 614959 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LMX1B Nail-patella syndrome, 161200 (3)
LRRC8A ?Agammaglobulinemia 5, 613506 (3)
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)
MAN1B1 Mental retardation, autosomal recessive 15, 614202 (3)
MPDZ Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
MRPS2 Combined oxidative phosphorylation deficiency 36, 617950 (3)
NOTCH1 Adams-Oliver syndrome 5, 616028 (3)
Aortic valve disease 1, 109730 (3)
NPR2 Epiphyseal chondrodysplasia, Miura type, 615923 (3)
Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Short stature with nonspecific skeletal abnormalities, 616255 (3)
NR5A1 Adrenocortical insufficiency, 612964 (3)
Premature ovarian failure 7, 612964 (3)
46, XX sex reversal 4, 617480 (3)
46XY sex reversal 3, 612965 (3)
Spermatogenic failure 8, 613957 (3)
PIGO Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
PMPCA Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
PTCH1 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Holoprosencephaly 7, 610828 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
RUSC2 Mental retardation, autosomal recessive 61, 617773 (3)
SARDH [Sarcosinemia], 268900 (3)
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SOHLH1 Ovarian dysgenesis 5, 617690 (3)
Spermatogenic failure 32, 618115 (3)
SPTAN1 Epileptic encephalopathy, early infantile, 5, 613477 (3)
SURF1 Charcot-Marie-Tooth disease, type 4K, 616684 (3)
Leigh syndrome, due to COX IV deficiency, 256000 (3)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TJP2 Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Hypercholanemia, familial, 607748 (3)
TNC Deafness, autosomal dominant 56, 615629 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)

Genes at Clinical Genomics Database

ABCA1, ADAMTS13, ADAMTSL2, AK1, ASS1, BAAT, CACNA1B, CARD9, CDK5RAP2, COL27A1, COL5A1, COQ4, CRB2, DBH, DNM1, DOCK8, DPM2, EHMT1, FBP1, FREM1, FXN, GALT, GBA2, GLIS3, IKBKAP, INPP5E, KANK1, KCNT1, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, NOTCH1, NPR2, NR5A1, PIGO, PMPCA, POMT1, PSAT1, PTCH1, ROR2, SETX, SLC1A1, SLC34A3, SMARCA2, SPTAN1, SURF1, TEK, TJP2, TNC, TRPM6, WDR34,
ABCA1 ABCA1 deficiency
Tangier disease
HDL deficiency, type 2
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADAMTSL2 Geleophysic dysplasia 1
AK1 Adenylate kinase deficiency, hemolytic anemia due to
ASS1 Citrullinemia
BAAT Hypercholanemia, familial
CACNA1B Dystonia 23
CARD9 Candidiasis, familial, 2
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
COL27A1 Steel syndrome
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COQ4 Coenzyme Q10 deficiency 7
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
DBH Dopamine beta-hydroxylase deficiency
DNM1 Epileptic encephalopathy, early infantile 31
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DPM2 Congenital disorder of glycosylation, type Iu
EHMT1 Kleefstra syndrome
FBP1 Fructose-1,6-bisphosphatase deficiency
FREM1 Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
FXN Friedreich ataxia
GALT Galactosemia
GBA2 Cerebellar ataxia with spasticity, autosomal recessive
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
IKBKAP Dysautonomia, familial
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNT1 Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
LAMC3 Cortical malformations, occipital
LMX1B Nail-patella syndrome
LRRC8A Agammaglobulinemia 5
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P
MAN1B1 Mental retardation, autosomal recessive 15
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2
NOTCH1 Aortic valve disease
NPR2 Epiphyseal chondrodysplasia, Miura type
Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia, Maroteaux type
NR5A1 Adrenocortical insufficiency
46, XY sex reversal, 3
Premature ovarian failure 7
PIGO Hyperphosphatasia with mental retardation syndrome 2
PMPCA Spinocerebellar ataxia, autosomal recessive 2
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
PSAT1 Phosphoserine aminotransferase deficiency
PTCH1 Basal cell nevus syndrome
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
SETX Spinocerebellar ataxia, autosomal recessive 1
Amyotrophic lateral sclerosis 4, juvenile
Ataxia with oculomotor apraxia, type 2
SLC1A1 Dicarboxylic aminoaciduria
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SMARCA2 Nicolaides-Baraitser syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
SURF1 Charcot-Marie-Tooth disease type 4K
Leigh syndrome
TEK Venous malformations, multiple cutaneous and mucosal
TJP2 Hypercholanemia, familial
Cholestasis, progressive familial intrahepatic 4
TNC Deafness, autosomal dominant 56
TRPM6 Hypomagnesemia 1, intestinal
WDR34 Short -rib thoracic dysplasia 11 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 1196
Number of Genes: 261

Export to: CSV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs1111796
dbSNP Clinvar 		117086226 493.452 A G,T PASS 1/2 167 None None None 0.01458 0.73140 None None None None None None ORM1|0.000605117|97.91%
View tsvc_variants_ionxpress_032 9 rs4072883
dbSNP Clinvar 		137686906 945.339 C T PASS 1/1 127 None None None 0.69169 0.69170 0.34015 None None None None None None COL5A1|0.207487878|35.85%
View tsvc_variants_ionxpress_032 9 rs4341231
dbSNP Clinvar 		137592961 831.428 T C PASS 1/1 112 None None None 0.62380 0.62380 None None None None None None COL5A1|0.207487878|35.85%
View tsvc_variants_ionxpress_032 9 rs1536475
dbSNP Clinvar 		137321156 377.548 A G PASS 1/1 51 None None None 0.81669 0.81670 None None None None None None RXRA|0.730901925|7.63%
View tsvc_variants_ionxpress_032 9 rs3118570
dbSNP Clinvar 		137320855 982.012 G T PASS 1/1 132 None None None 0.83007 0.83010 None None None None None None RXRA|0.730901925|7.63%

BRD3
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 tsvc_variants_ionxpress_032 9 rs464826
dbSNP Clinvar 		136913355 624.456 T C PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT 0.72504 0.72500 0.29230 None None None None None None BRD3|0.108368545|49.49%
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 tsvc_variants_ionxpress_032 9 rs443876
dbSNP Clinvar 		136898922 411.361 G T PASS 1/1 55 None None None 0.72125 0.72120 None None None None None None BRD3|0.108368545|49.49%
View tsvc_variants_ionxpress_032 9 rs2073886
dbSNP Clinvar 		136804211 401.569 G A PASS 1/1 54 None None None 0.70268 0.70270 0.28041 None None None None None None VAV2|0.159643763|41.61%
View tsvc_variants_ionxpress_032 9 rs1468128
dbSNP Clinvar 		136648606 531.337 G A PASS 1/1 85 None None None 0.69010 0.69010 0.39520 None None None None None None VAV2|0.159643763|41.61%
View tsvc_variants_ionxpress_032 9 rs680458
dbSNP Clinvar 		136648565 544.272 G A PASS 1/1 84 None None None 0.73243 0.73240 None None None None None None VAV2|0.159643763|41.61%
View tsvc_variants_ionxpress_032 9 rs2488563
dbSNP Clinvar 		136648535 619.778 T C PASS 1/1 83 None None None 0.90455 0.90460 None None None None None None VAV2|0.159643763|41.61%
View tsvc_variants_ionxpress_032 9 rs2510232
dbSNP Clinvar 		136648483 542.719 T C PASS 1/1 72 None None None 0.86342 0.86340 None None None None None None VAV2|0.159643763|41.61%
View tsvc_variants_ionxpress_032 9 rs2428107
dbSNP Clinvar 		136648446 480.677 T A PASS 1/1 65 None None None 0.89876 0.89880 None None None None None None VAV2|0.159643763|41.61%
View tsvc_variants_ionxpress_032 9 rs2077065
dbSNP Clinvar 		136641313 477.984 G C PASS 1/1 66 None None None 0.83227 0.83230 None None None None None None VAV2|0.159643763|41.61%
View tsvc_variants_ionxpress_032 9 rs2488553
dbSNP Clinvar 		136599315 550.756 G A PASS 1/1 71 START_GAINED LOW 0.60264 0.60260 0.33633 None None None None None None SARDH|0.055038461|61.17%
View tsvc_variants_ionxpress_032 9 rs2427988
dbSNP Clinvar 		136594864 1186.94 A G PASS 1/1 185 None None None 0.77895 0.77900 0.19422 None None None None None None SARDH|0.055038461|61.17%

DBH
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 tsvc_variants_ionxpress_032 9 rs77905
dbSNP Clinvar 		136518097 827.513 A G PASS 1/1 111 SYNONYMOUS_CODING LOW SILENT 0.62121 0.62120 0.47455 None None None None None None DBH|0.089974085|53.24%
View tsvc_variants_ionxpress_032 9 rs1108580
dbSNP Clinvar 		136505114 1375.34 A G PASS 1/1 214 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.42991 0.42990 0.42680 None None None None None None DBH|0.089974085|53.24%
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 tsvc_variants_ionxpress_032 9 rs2073879
dbSNP Clinvar 		136412382 401.799 T C PASS 1/1 54 None None None 0.72524 0.72520 0.12463 None None None None None None ADAMTSL2|0.0506365|62.46%
View tsvc_variants_ionxpress_032 9 rs2073878
dbSNP Clinvar 		136412346 421.703 C T PASS 1/1 57 None None None 0.72045 0.72040 0.12502 None None None None None None ADAMTSL2|0.0506365|62.46%

ADAMTSL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2073876
dbSNP Clinvar 		136412255 668.109 A C PASS 1/1 90 SYNONYMOUS_CODING LOW SILENT 0.72464 0.72460 0.12440 None None None None None None ADAMTSL2|0.0506365|62.46%
View tsvc_variants_ionxpress_032 9 rs2073875
dbSNP Clinvar 		136412236 667.962 A T PASS 1/1 90 SYNONYMOUS_CODING LOW SILENT 0.72464 0.72460 0.12448 None None None None None None ADAMTSL2|0.0506365|62.46%
View tsvc_variants_ionxpress_032 9 rs2073874
dbSNP Clinvar 		136412170 667.306 C T PASS 1/1 89 SYNONYMOUS_CODING LOW SILENT 0.72404 0.72400 0.12464 None None None None None None ADAMTSL2|0.0506365|62.46%

CACFD1
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 tsvc_variants_ionxpress_032 9 rs3124765
dbSNP Clinvar 		136328657 582.083 T C PASS 1/1 78 SYNONYMOUS_CODING LOW SILENT 0.00260 0.84110 0.20145 None None None None None None CACFD1|0.051141294|62.3%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs4310274
dbSNP Clinvar 		136083801 500.945 A G PASS 1/1 67 None None None 0.76478 0.76480 None None None None None None OBP2B|0.000533069|98.26%
View tsvc_variants_ionxpress_032 9 rs3747817
dbSNP Clinvar 		135985166 787.209 G A PASS 1/1 114 None None None 0.17772 0.17770 None None None None None None RALGDS|0.044227196|64.43%

RALGDS
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 tsvc_variants_ionxpress_032 9 rs2285375
dbSNP Clinvar 		135983504 618.897 T C PASS 1/1 87 SYNONYMOUS_CODING LOW SILENT 0.28894 0.28890 0.35022 None None None None None None RALGDS|0.044227196|64.43%
View tsvc_variants_ionxpress_032 9 rs2073822
dbSNP Clinvar 		135982088 486.862 A C PASS 1/1 64 SYNONYMOUS_CODING LOW SILENT 0.19449 0.19450 0.25735 None None None None None None RALGDS|0.044227196|64.43%
View tsvc_variants_ionxpress_032 9 rs1062356
dbSNP Clinvar 		135974079 503.373 G C PASS 1/1 68 SYNONYMOUS_CODING LOW SILENT 0.82748 0.82750 0.14609 None None None None None None RALGDS|0.044227196|64.43%
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 tsvc_variants_ionxpress_032 9 rs396801
dbSNP Clinvar 		135601367 992.166 G C PASS 1/1 139 None None None 0.61262 0.61260 None None None None None None AK8|0.035216111|67.44%
View tsvc_variants_ionxpress_032 9 rs396819
dbSNP Clinvar 		135601354 1030.74 T C PASS 1/1 139 None None None 0.65395 0.65400 0.36952 None None None None None None AK8|0.035216111|67.44%

C9orf171
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs562350
dbSNP Clinvar 		135374898 1859.93 T C PASS 1/1 251 SYNONYMOUS_CODING LOW SILENT 0.67832 0.67830 0.37537 None None None None None None C9orf171|0.095048175|52.09%

SETX
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2296869
dbSNP Clinvar 		135172412 401.57 A G PASS 1/1 54 SYNONYMOUS_CODING LOW SILENT 0.44169 0.44170 0.30717 None None None None None None SETX|0.030104605|69.35%

NTNG2
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 tsvc_variants_ionxpress_032 9 rs4962173
dbSNP Clinvar 		135105964 376.227 A G PASS 1/1 51 None None None 0.99860 0.99860 0.00300 1.00 0.00 None None None None None None NTNG2|0.232492234|33.16%
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 tsvc_variants_ionxpress_032 9 rs11243664
dbSNP Clinvar 		135073315 721.708 C G PASS 1/1 116 None None None 0.39856 0.39860 0.38055 None None None None None None NTNG2|0.232492234|33.16%
View tsvc_variants_ionxpress_032 9 rs11243663
dbSNP Clinvar 		135073309 863.677 G A PASS 1/1 116 None None None 0.38618 0.38620 0.36375 None None None None None None NTNG2|0.232492234|33.16%
View tsvc_variants_ionxpress_032 9 rs3904960
dbSNP Clinvar 		134406131 739.875 G T PASS 1/1 115 None None None 0.76118 0.76120 None None None None None None UCK1|0.069344781|57.64%

UCK1
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 tsvc_variants_ionxpress_032 9 rs7867616
dbSNP Clinvar 		134406071 954.974 C G PASS 1/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86222 0.86220 0.18845 0.01 0.00 None None None None None None UCK1|0.069344781|57.64%
View tsvc_variants_ionxpress_032 9 rs2296957
dbSNP Clinvar 		134401335 735.018 C T PASS 1/1 99 SYNONYMOUS_CODING LOW SILENT 0.00359 0.00359 0.16969 None None None None None None UCK1|0.069344781|57.64%
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 tsvc_variants_ionxpress_032 9 rs3739495
dbSNP Clinvar 		134398534 1224.62 T C PASS 1/1 165 None None None 0.87041 0.87040 0.12102 None None None None None None POMT1|0.060595085|59.69%
View tsvc_variants_ionxpress_032 9 rs10122068
dbSNP Clinvar 		134398249 584.697 C T PASS 1/1 79 None None None 0.74820 0.74820 None None None None None None POMT1|0.060595085|59.69%
View tsvc_variants_ionxpress_032 9 rs4740165
dbSNP Clinvar 		134397624 1076.46 C T PASS 1/1 145 None None None 0.83167 0.83170 0.15831 None None None None None None POMT1|0.060595085|59.69%

POMT1
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 tsvc_variants_ionxpress_032 9 rs3739494
dbSNP Clinvar 		134387488 996.882 T C PASS 1/1 134 SYNONYMOUS_CODING LOW SILENT 0.87081 0.87080 0.11948 None None None None None None POMT1|0.060595085|59.69%
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 tsvc_variants_ionxpress_032 9 rs10901061
dbSNP Clinvar 		134358657 1111.31 G C PASS 1/1 156 None None None 0.97684 0.97680 None None None None None None PRRC2B|0.148927133|43.15%

PRRC2B
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 tsvc_variants_ionxpress_032 9 rs7858488
dbSNP Clinvar 		134351065 798.114 G T PASS 1/1 117 SYNONYMOUS_CODING LOW SILENT 0.87340 0.87340 0.11747 None None None None None None PRRC2B|0.148927133|43.15%
View tsvc_variants_ionxpress_032 9 rs10793873
dbSNP Clinvar 		134350647 474.14 T C PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98123 0.98120 0.02261 1.00 0.00 None None None None None None PRRC2B|0.148927133|43.15%
View tsvc_variants_ionxpress_032 9 rs10736851
dbSNP Clinvar 		134350323 469.587 C G PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76957 0.76960 0.25973 0.21 0.01 None None None None None None PRRC2B|0.148927133|43.15%
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 tsvc_variants_ionxpress_032 9 rs7850251
dbSNP Clinvar 		134349152 732.968 G A PASS 1/1 116 None None None 0.98283 0.98280 0.02153 None None None None None None PRRC2B|0.148927133|43.15%

PRRC2B
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 tsvc_variants_ionxpress_032 9 rs4310250
dbSNP Clinvar 		134346315 376.229 T C PASS 1/1 51 SYNONYMOUS_CODING LOW SILENT 0.85883 0.85880 0.11856 None None None None None None PRRC2B|0.148927133|43.15%

FAM78A
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 tsvc_variants_ionxpress_032 9 rs352951
dbSNP Clinvar 		134136677 1269.59 A G PASS 1/1 170 SYNONYMOUS_CODING LOW SILENT 0.91973 0.91970 0.06812 None None None None None None FAM78A|0.043117947|64.77%
View tsvc_variants_ionxpress_032 9 rs352952
dbSNP Clinvar 		134136515 1875.75 A G PASS 1/1 253 SYNONYMOUS_CODING LOW SILENT 0.91873 0.91870 0.07128 None None None None None None FAM78A|0.043117947|64.77%
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 tsvc_variants_ionxpress_032 9 rs4602942
dbSNP Clinvar 		134067795 527.402 G A PASS 1/1 71 None None None 0.97504 0.97500 None None None None None None NUP214|0.088064725|53.65%
View tsvc_variants_ionxpress_032 9 rs353525
dbSNP Clinvar 		133987060 975.602 G A PASS 1/1 134 None None None 0.97085 0.97080 0.03437 None None None None None None AIF1L|0.265763061|30.2%
View tsvc_variants_ionxpress_032 9 rs353526
dbSNP Clinvar 		133986980 1173.54 T G PASS 1/1 175 None None None 0.99980 0.99980 None None None None None None AIF1L|0.265763061|30.2%
View tsvc_variants_ionxpress_032 9 rs818056
dbSNP Clinvar 		133967240 613.019 T C PASS 1/1 125 None None None 0.38958 0.38960 None None None None None None LAMC3|0.028908459|69.93%
View tsvc_variants_ionxpress_032 9 rs7045998
dbSNP Clinvar 		133960777 665.714 C T PASS 1/1 90 None None None 0.48403 0.48400 None None None None None None LAMC3|0.028908459|69.93%
View tsvc_variants_ionxpress_032 9 rs36035484
dbSNP Clinvar 		133960773 653.909 T C PASS 1/1 88 None None None 0.48403 0.48400 None None None None None None LAMC3|0.028908459|69.93%
View tsvc_variants_ionxpress_032 9 rs7045991
dbSNP Clinvar 		133960768 654.176 C T PASS 1/1 88 None None None 0.48403 0.48400 None None None None None None LAMC3|0.028908459|69.93%

LAMC3
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 tsvc_variants_ionxpress_032 9 rs2275140
dbSNP Clinvar 		133948049 800.825 A G PASS 1/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69908 0.69910 0.23243 0.72 0.00 None None None None None None LAMC3|0.028908459|69.93%
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 tsvc_variants_ionxpress_032 9 rs3765568
dbSNP Clinvar 		133942660 841.101 G A PASS 1/1 123 None None None 0.69050 0.69050 None None None None None None LAMC3|0.028908459|69.93%
View tsvc_variants_ionxpress_032 9 rs3765569
dbSNP Clinvar 		133942624 936.054 A G PASS 1/1 126 None None None 0.00080 0.68790 0.24120 None None None None None None LAMC3|0.028908459|69.93%
View tsvc_variants_ionxpress_032 9 rs2315073
dbSNP Clinvar 		133936775 418.182 C T PASS 1/1 56 None None None 0.67472 0.67470 None None None None None None LAMC3|0.028908459|69.93%

LAMC3
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 tsvc_variants_ionxpress_032 9 rs3739510
dbSNP Clinvar 		133936571 1884.14 C G PASS 1/1 272 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.13488 1.00 0.00 None None None None None None LAMC3|0.028908459|69.93%
View tsvc_variants_ionxpress_032 9 rs2275132
dbSNP Clinvar 		133911598 521.318 A G PASS 1/1 69 SYNONYMOUS_CODING LOW SILENT 0.84824 0.84820 0.12883 None None None None None None LAMC3|0.028908459|69.93%
View tsvc_variants_ionxpress_032 9 . 133901819 1974.88 CC AG PASS 1/1 269 NON_SYNONYMOUS_CODING MODERATE 0.47 0.20 None None None None None None LAMC3|0.028908459|69.93%

FIBCD1
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 tsvc_variants_ionxpress_032 9 rs6597650
dbSNP Clinvar 		133787225 889.438 A G PASS 1/1 120 SYNONYMOUS_CODING LOW SILENT 0.60104 0.60100 0.47307 None None None None None None FIBCD1|0.067524066|58%
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 tsvc_variants_ionxpress_032 9 rs1215940
dbSNP Clinvar 		133355874 630.007 A G PASS 1/1 89 None None None 0.11126 None None None None None None ASS1|0.463790404|17.47%
View tsvc_variants_ionxpress_032 9 rs4837482
dbSNP Clinvar 		132963350 518.818 T C PASS 1/1 66 None None None 0.93970 0.93970 0.07403 None None None None None None NCS1|0.573270605|12.86%

GPR107
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 tsvc_variants_ionxpress_032 9 rs4837460
dbSNP Clinvar 		132872686 383.549 A G PASS 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.96046 0.96050 0.03898 None None None None None None GPR107|0.07556857|56.15%
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 tsvc_variants_ionxpress_032 9 rs11399718,rs398012425
dbSNP Clinvar 		132848653 414.815 C CT PASS 1/1 73 None None None 0.99740 0.99740 0.00479 None None None None None None GPR107|0.07556857|56.15%
View tsvc_variants_ionxpress_032 9 rs4415421
dbSNP Clinvar 		132636033 377.885 T C PASS 1/1 51 None None None 0.86182 0.86180 0.16293 None None None None None None USP20|0.195223584|37.23%
View tsvc_variants_ionxpress_032 9 rs4332226
dbSNP Clinvar 		132636031 377.722 A G PASS 1/1 51 None None None 0.86162 0.86160 0.16353 None None None None None None USP20|0.195223584|37.23%
View tsvc_variants_ionxpress_032 9 rs2296787
dbSNP Clinvar 		132635944 391.375 C G PASS 1/1 53 None None None 0.85164 0.85160 0.17286 None None None None None None USP20|0.195223584|37.23%
View tsvc_variants_ionxpress_032 9 rs4258092
dbSNP Clinvar 		132630822 1009.75 C T PASS 1/1 130 None None None 0.86022 0.86020 None None None None None None USP20|0.195223584|37.23%

USP20
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 tsvc_variants_ionxpress_032 9 . 132630667 1013.2 CGAC C PASS 1/1 164 CODON_DELETION MODERATE None None None None None None USP20|0.195223584|37.23%
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 tsvc_variants_ionxpress_032 9 rs913325
dbSNP Clinvar 		132630231 970.585 A G PASS 1/1 138 None None None 0.88019 0.88020 None None None None None None USP20|0.195223584|37.23%
View tsvc_variants_ionxpress_032 9 rs913320
dbSNP Clinvar 		132627723 929.662 G A PASS 1/1 129 None None None 0.87340 0.87340 0.15331 None None None None None None USP20|0.195223584|37.23%
View tsvc_variants_ionxpress_032 9 rs2900279
dbSNP Clinvar 		132625602 411.362 T C PASS 1/1 55 None None None 0.88359 0.88360 0.12820 None None None None None None USP20|0.195223584|37.23%
View tsvc_variants_ionxpress_032 9 . 132625417 418.139 CA TG PASS 1/1 57 None None None None None None None None None USP20|0.195223584|37.23%
View tsvc_variants_ionxpress_032 9 rs10124224
dbSNP Clinvar 		132623917 682.698 C A PASS 1/1 92 None None None 0.88439 0.88440 0.13505 None None None None None None USP20|0.195223584|37.23%

USP20
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 tsvc_variants_ionxpress_032 9 rs10115249
dbSNP Clinvar 		132623868 681.669 T C PASS 1/1 91 SYNONYMOUS_CODING LOW SILENT 0.88439 0.88440 0.13610 None None None None None None USP20|0.195223584|37.23%
View tsvc_variants_ionxpress_032 9 rs1503375
dbSNP Clinvar 		132623293 767.802 C T PASS 1/1 106 SYNONYMOUS_CODING LOW SILENT 0.87340 0.87340 0.14738 None None None None None None USP20|0.195223584|37.23%
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 tsvc_variants_ionxpress_032 9 rs10760638
dbSNP Clinvar 		132620464 370.264 C T PASS 1/1 50 None None None 0.88439 0.88440 None None None None None None USP20|0.195223584|37.23%
View tsvc_variants_ionxpress_032 9 rs10819569
dbSNP Clinvar 		132620458 376.997 C A PASS 1/1 51 None None None 0.87340 0.87340 0.15331 None None None None None None USP20|0.195223584|37.23%

USP20
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 tsvc_variants_ionxpress_032 9 rs10819568
dbSNP Clinvar 		132620364 456.286 T C PASS 1/1 62 SYNONYMOUS_CODING LOW SILENT 0.88439 0.88440 0.13514 None None None None None None USP20|0.195223584|37.23%
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 tsvc_variants_ionxpress_032 9 rs4837396
dbSNP Clinvar 		132404304 2019.41 C G PASS 1/1 333 None None None 0.96905 0.96900 0.01832 None None None None None None ASB6|0.071590826|57.08%
View tsvc_variants_ionxpress_032 9 rs1558873
dbSNP Clinvar 		132396655 748.009 A G PASS 1/1 99 None None None 0.01637 0.01637 None None None None None None NTMT1|0.139033566|44.54%
View tsvc_variants_ionxpress_032 9 rs10819551
dbSNP Clinvar 		132396281 1569.07 G C PASS 1/1 200 None None None 0.96765 0.96770 0.02006 None None None None None None NTMT1|0.139033566|44.54%
View tsvc_variants_ionxpress_032 9 rs5900829,rs397725538
dbSNP Clinvar 		131909456 433.779 T TTC PASS 1/1 62 None None None 0.98822 0.98820 None None None None None None PPP2R4|0.64940627|10.14%
View tsvc_variants_ionxpress_032 9 rs3118631
dbSNP Clinvar 		131899846 773.391 T C PASS 1/1 104 None None None 0.99641 0.99640 0.00400 None None None None None None PPP2R4|0.64940627|10.14%
View tsvc_variants_ionxpress_032 9 rs10549379,rs796666970
dbSNP Clinvar 		131862705 435.003 AGG A PASS 1/1 63 None None None 0.85024 0.85020 None None None None None None CRAT|0.115517986|48.2%

CRAT
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 tsvc_variants_ionxpress_032 9 rs3118635
dbSNP Clinvar 		131860901 1043.16 G T PASS 1/1 142 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99641 0.99640 0.00400 1.00 0.00 None None None None None None CRAT|0.115517986|48.2%
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 tsvc_variants_ionxpress_032 9 rs1179033
dbSNP Clinvar 		136234124 1082.23 A G PASS 1/1 149 None None None 1.00000 1.00000 None None None None None None SURF4|0.153305322|42.48%

AKNA
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 tsvc_variants_ionxpress_032 9 rs3748176
dbSNP Clinvar 		117124731 591.779 G A PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38419 0.38420 0.41504 0.01 0.14 None None None None None None AKNA|0.005369534|85.34%
View tsvc_variants_ionxpress_032 9 rs3748177
dbSNP Clinvar 		117122202 997.467 C T PASS 1/1 134 SYNONYMOUS_CODING LOW SILENT 0.38998 0.39000 0.41865 None None None None None None AKNA|0.005369534|85.34%
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 tsvc_variants_ionxpress_032 9 rs1546049
dbSNP Clinvar 		117064306 559.768 T C PASS 1/1 78 None None None 0.55891 0.55890 0.47284 None None None None None None COL27A1|0.069704494|57.54%
View tsvc_variants_ionxpress_032 9 rs2015408
dbSNP Clinvar 		116997994 607.507 T C PASS 1/1 98 None None None 0.80092 0.80090 0.14783 None None None None None None COL27A1|0.069704494|57.54%

COL27A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 tsvc_variants_ionxpress_032 9 rs2567705
dbSNP Clinvar 		116931666 964.292 A T PASS 1/1 128 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29094 0.29090 0.38690 0.00 None None None None None None COL27A1|0.069704494|57.54%
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 tsvc_variants_ionxpress_032 9 rs3810929
dbSNP Clinvar 		116859769 491.34 T C PASS 1/1 66 None None None 0.73003 0.73000 None None None None None None KIF12|0.049577865|62.8%
View tsvc_variants_ionxpress_032 9 rs6478062
dbSNP Clinvar 		116858625 676.407 T G PASS 1/1 111 None None None 0.76038 0.76040 0.25458 None None None None None None KIF12|0.049577865|62.8%