SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
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 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

ABCA1

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 rs9282537
dbSNP Clinvar
107550222 400.424 G A PASS 1/1 54 SYNONYMOUS_CODING LOW SILENT 0.07648 0.07648 0.08581 None None None None None None ABCA1|0.668333708|9.43%

ABCA2

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 rs908828
dbSNP Clinvar
139913239 1859.07 T G PASS 1/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00008 1.00 0.00 None None None None None None ABCA2|0.074227496|56.47%
View tsvc_variants_ionxpress_032 9 rs7048567
dbSNP Clinvar
139904037 629.697 A G PASS 1/1 96 SYNONYMOUS_CODING LOW SILENT 0.72005 0.72000 0.29152 None None None None None None ABCA2|0.074227496|56.47%
View tsvc_variants_ionxpress_032 9 rs2271862
dbSNP Clinvar
139906359 756.419 G A PASS 1/1 102 SYNONYMOUS_CODING LOW SILENT 0.68730 0.68730 0.32231 None None None None None None ABCA2|0.074227496|56.47%

ADAMTS13

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 rs3124768
dbSNP Clinvar
136304497 117.635 A G PASS 0/1 108 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.51597 0.51600 0.41542 None None None None None None ADAMTS13|0.009367264|81.4%
View tsvc_variants_ionxpress_032 9 rs2301612
dbSNP Clinvar
136301982 119.718 C G PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27157 0.27160 0.30130 1.00 0.00 None None None None None None ADAMTS13|0.009367264|81.4%
View tsvc_variants_ionxpress_032 9 rs1055432
dbSNP Clinvar
136324239 202.413 C A PASS 0/1 173 SYNONYMOUS_CODING LOW SILENT 0.23063 0.23060 0.24731 None None None None None None ADAMTS13|0.009367264|81.4%

ADAMTSL1

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 rs2277160
dbSNP Clinvar
18504916 150.967 T A PASS 0/1 131 SYNONYMOUS_CODING LOW SILENT 0.57089 0.57090 0.40643 None None None None None None ADAMTSL1|0.674544897|9.24%

ADAMTSL2

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 rs534165083
dbSNP Clinvar
136433542 126.329 C T PASS 0/1 129 SYNONYMOUS_CODING LOW SILENT 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%
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 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 rs62637566
dbSNP Clinvar
136438985 41.4611 G A PASS 0/1 52 SYNONYMOUS_CODING LOW SILENT None None None None None None ADAMTSL2|0.0506365|62.46%

AIF1L

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 rs2315075
dbSNP Clinvar
133981629 119.06 T C PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26058 0.26060 0.52 0.00 None None None None None None AIF1L|0.265763061|30.2%

AK1

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 rs913986
dbSNP Clinvar
130630639 1190.84 A G PASS 1/1 161 SYNONYMOUS_CODING LOW SILENT 0.99820 0.99820 0.00185 None None None None None None AK1|0.26080806|30.67%

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 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%
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%

ALDH1B1

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 rs2073478
dbSNP Clinvar
38396065 184.477 G T PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39497 0.39500 0.49669 0.00 0.06 None None None None None None ALDH1B1|0.096225216|51.9%
View tsvc_variants_ionxpress_032 9 rs2228094
dbSNP Clinvar
38395940 105.846 T C PASS 0/1 105 SYNONYMOUS_CODING LOW SILENT 0.93670 0.93670 0.07919 None None None None None None ALDH1B1|0.096225216|51.9%
View tsvc_variants_ionxpress_032 9 rs4878199
dbSNP Clinvar
38396502 86.1419 G A PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93850 0.93850 0.07812 1.00 0.00 None None None None None None ALDH1B1|0.096225216|51.9%

ANGPTL2

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 rs2297866
dbSNP Clinvar
129854199 61.5923 G A PASS 0/1 95 SYNONYMOUS_CODING LOW SILENT 0.29054 0.29050 0.36191 None None None None None None RALGPS1|0.437653651|18.81%,ANGPTL2|0.341353132|24.75%

ANKRD18B

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 rs7032174
dbSNP Clinvar
33568687 71.1894 T A PASS 0/1 55 SYNONYMOUS_CODING LOW SILENT 0.14317 0.14320 None None None None None None ANKRD18B|0.001295646|93.93%
View tsvc_variants_ionxpress_032 9 rs3843933
dbSNP Clinvar
33524684 1687.11 G A PASS 1/1 204 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75320 0.75320 1.00 0.23 None None None None None None ANKRD18B|0.001295646|93.93%
View tsvc_variants_ionxpress_032 9 rs41313967
dbSNP Clinvar
33568763 66.6357 C T PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05931 0.05931 0.02 0.14 None None None None None None ANKRD18B|0.001295646|93.93%

AQP7

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 rs642636
dbSNP Clinvar
33395196 1398.42 A G PASS 1/1 189 None None None 0.99082 0.99080 0.00692 None None None None None None AQP7|0.012677613|78.76%

ARHGEF39

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 rs2297879
dbSNP Clinvar
35662251 103.111 T C PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30571 0.30570 0.25065 0.33 0.00 None None None None None None ARHGEF39|0.293829153|28.14%
View tsvc_variants_ionxpress_032 9 rs45567235
dbSNP Clinvar
35665153 81.1847 C A PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06849 0.06849 0.09496 0.16 0.00 None None None None None None ARHGEF39|0.293829153|28.14%

ARID3C

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 rs3808869
dbSNP Clinvar
34622389 93.5923 A C PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60244 0.60240 0.41558 0.68 0.00 None None None None None None ARID3C|0.102060317|50.79%
View tsvc_variants_ionxpress_032 9 rs13283357
dbSNP Clinvar
34627940 220.762 C T PASS 0/1 191 SYNONYMOUS_CODING LOW SILENT 0.18690 0.18690 0.27163 None None None None None None ARID3C|0.102060317|50.79%

ARRDC1

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 rs35018943
dbSNP Clinvar
140509302 582.093 G T PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06090 0.06090 0.08981 0.03 0.53 None None None None None None ARRDC1|0.043457377|64.67%

ASB6

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 rs3739851
dbSNP Clinvar
132400480 50.91 G A PASS 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.46146 0.46150 0.47178 None None None None None None ASB6|0.071590826|57.08%

ASPN

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 rs878929025,rs397838876,rs557103556
dbSNP Clinvar
95237024 349.479 CTCA C PASS 1/1 49 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View tsvc_variants_ionxpress_032 9 rs4744132
dbSNP Clinvar
95219597 844.826 G A PASS 1/1 114 SYNONYMOUS_CODING LOW SILENT 0.99101 0.99100 0.01261 None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ASS1

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 rs1057484
dbSNP Clinvar
133364757 27.4262 T C PASS 0/1 56 SYNONYMOUS_CODING LOW SILENT 0.07668 0.07668 0.10288 None None None None None None ASS1|0.463790404|17.47%

ASTN2

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 rs7848630
dbSNP Clinvar
120053776 1202.0 T C PASS 1/1 161 SYNONYMOUS_CODING LOW SILENT 0.96466 0.96470 0.03360 None None None None None None ASTN2|0.952118309|2.19%
View tsvc_variants_ionxpress_032 9 rs7863560
dbSNP Clinvar
119495697 838.324 T C PASS 1/1 113 SYNONYMOUS_CODING LOW SILENT 0.99241 0.99240 0.00484 None None None None None None ASTN2|0.952118309|2.19%

BAAT

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 rs1572983
dbSNP Clinvar
104133628 773.115 C T PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56290 0.56290 0.36860 0.44 0.04 None None None None None None BAAT|0.006993319|83.49%

BRD3

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 rs467387
dbSNP Clinvar
136907005 54.6119 G A PASS 0/1 82 SYNONYMOUS_CODING LOW SILENT 0.33546 0.33550 0.21194 None None None None None None BRD3|0.108368545|49.49%
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%

BRINP1

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 rs28453
dbSNP Clinvar
121929575 1489.78 T C PASS 1/1 201 SYNONYMOUS_CODING LOW SILENT 0.18630 0.18630 0.20183 None None None None None None BRINP1|0.722842706|7.9%
View tsvc_variants_ionxpress_032 9 rs2274157
dbSNP Clinvar
122001000 401.57 G A PASS 1/1 54 SYNONYMOUS_CODING LOW SILENT 0.44209 0.44210 0.35130 None None None None None None BRINP1|0.722842706|7.9%

BSPRY

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 rs752757
dbSNP Clinvar
116122954 819.425 A G PASS 1/1 115 SYNONYMOUS_CODING LOW SILENT 0.36442 0.36440 0.29487 None None None None None None BSPRY|0.077695402|55.74%

C8G

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 rs2071006
dbSNP Clinvar
139839904 502.633 T G PASS 1/1 68 SYNONYMOUS_CODING LOW SILENT 0.56769 0.56770 0.45217 None None None None None None C8G|0.005774139|84.88%
View tsvc_variants_ionxpress_032 9 rs7850844
dbSNP Clinvar
139840543 434.474 A G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96725 0.96730 0.04834 1.00 0.00 None None None None None None C8G|0.005774139|84.88%

C9orf114

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 rs6478854
dbSNP Clinvar
131588888 151.453 G C PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46146 0.46150 0.42027 0.55 0.00 None None None None None None C9orf114|0.115068599|48.31%

C9orf117

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 rs522328
dbSNP Clinvar
130475011 62.8839 T C PASS 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.63738 0.63740 0.33645 None None None None None None PTRH1|0.053972613|61.48%,C9orf117|0.003242017|88.26%
View tsvc_variants_ionxpress_032 9 rs497632
dbSNP Clinvar
130475442 294.738 A C PASS 0/1 236 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53674 0.53670 0.41920 0.18 0.01 None None None None None None PTRH1|0.053972613|61.48%,C9orf117|0.003242017|88.26%

C9orf129

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 rs62574460
dbSNP Clinvar
96097673 230.398 G A PASS 0/1 159 SYNONYMOUS_CODING LOW SILENT 0.26917 0.26920 None None None None None None C9orf129|0.002952224|88.72%

C9orf131

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 rs615474
dbSNP Clinvar
35043291 920.534 G T PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65395 0.65400 0.28779 1.00 0.00 None None None None None None C9orf131|0.007511976|83.04%

C9orf152

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 rs4978888
dbSNP Clinvar
112963702 419.502 G A PASS 1/1 57 SYNONYMOUS_CODING LOW SILENT 0.21805 0.21810 0.20460 None None None None None None C9orf152|0.005537676|85.17%

C9orf163

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 rs34376913
dbSNP Clinvar
139378914 184.126 T C PASS 0/1 205 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15156 0.15160 0.16099 0.00 0.99 None None None None None None C9orf163|0.000432882|98.77%

C9orf171

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 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%

C9orf172

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 rs10870132
dbSNP Clinvar
139739643 1407.56 T C PASS 1/1 175 SYNONYMOUS_CODING LOW SILENT 0.78914 0.78910 None None None None None None C9orf172|0.015366861|76.9%

C9orf66

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 rs636922
dbSNP Clinvar
215269 1444.94 A C PASS 1/1 196 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17951 0.17950 0.18242 0.00 0.02 None None None None None None C9orf66|0.001400142|93.34%,DOCK8|0.209041054|35.69%

C9orf69

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 rs3739466
dbSNP Clinvar
139008803 703.047 T G PASS 1/1 93 None None None 0.44828 0.44830 None None None None None None C9orf69|0.222585573|34.12%

C9orf96

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 rs28418384
dbSNP Clinvar
136266968 157.968 G C PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00160 0.00160 0.00200 0.30 0.00 None None None None None None STKLD1|0.00269475|89.23%
View tsvc_variants_ionxpress_032 9 rs3124748
dbSNP Clinvar
136268038 156.099 C T PASS 0/1 108 SYNONYMOUS_CODING LOW SILENT 0.44349 0.44350 0.42957 None None None None None None STKLD1|0.00269475|89.23%
View tsvc_variants_ionxpress_032 9 rs3124747
dbSNP Clinvar
136268084 91.758 A G PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47005 0.47000 0.42734 1.00 0.00 None None None None None None STKLD1|0.00269475|89.23%

CA9

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 rs3829078
dbSNP Clinvar
35679251 275.943 A G PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04912 0.04912 0.08465 1.00 0.00 None None None None None None CA9|0.090992438|53.04%

CACFD1

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 rs3094381
dbSNP Clinvar
136333487 75.9944 G A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00779 0.06569 0.15 0.12 None None None None None None CACFD1|0.051141294|62.3%
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%

CACNA1B

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 rs2278973
dbSNP Clinvar
141016262 1225.54 T G PASS 1/1 165 SYNONYMOUS_CODING LOW SILENT 0.91074 0.91070 0.07300 None None None None None None CACNA1B|0.168604934|40.5%
View tsvc_variants_ionxpress_032 9 rs2229948
dbSNP Clinvar
141008876 123.185 C T PASS 0/1 137 SYNONYMOUS_CODING LOW SILENT 0.50459 0.50460 0.37206 None None None None None None CACNA1B|0.168604934|40.5%

CARD9

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 rs10781499
dbSNP Clinvar
139266405 381.52 G A PASS 1/1 54 SYNONYMOUS_CODING LOW SILENT 0.36621 0.36620 0.37429 None None None None None None CARD9|0.103593325|50.49%

CCDC107

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 rs1339374
dbSNP Clinvar
35660990 503.021 A G PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81330 0.81330 0.25773 0.23 0.00 None None None None None None CCDC107|0.032699801|68.28%,ARHGEF39|0.293829153|28.14%

CCDC180

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 rs1947717
dbSNP Clinvar
100105735 493.004 T C PASS 1/1 66 SYNONYMOUS_CODING LOW SILENT 0.59365 0.59370 0.44833 None None None None None None CCDC180|0.009048134|81.61%
View tsvc_variants_ionxpress_032 9 rs3747496
dbSNP Clinvar
100087345 427.084 A G PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.59804 0.59800 0.44533 None None None None None None CCDC180|0.009048134|81.61%

CCDC183

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 rs2811795
dbSNP Clinvar
139700605 636.072 T C PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85344 0.85340 0.14727 0.99 0.00 None None None None None None CCDC183|0.008607559|82.03%
View tsvc_variants_ionxpress_032 9 rs2254143
dbSNP Clinvar
139701108 759.358 A C PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80651 0.80650 0.19493 1.00 0.00 None None None None None None CCDC183|0.008607559|82.03%

CCIN

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 rs3739609
dbSNP Clinvar
36169598 924.437 T C PASS 1/1 125 SYNONYMOUS_CODING LOW SILENT 0.50180 0.50180 0.49185 None None None None None None CCIN|0.349653744|24.15%

CDK20

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 rs665983
dbSNP Clinvar
90588903 872.238 C T PASS 1/1 137 SYNONYMOUS_CODING LOW SILENT 0.67033 0.67030 0.17623 None None None None None None CDK20|0.083689394|54.51%

CDK5RAP2

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 rs4836822
dbSNP Clinvar
123291036 431.47 C G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80112 0.80110 0.15162 0.06 0.67 None None None None None None CDK5RAP2|0.080331777|55.08%

CEP78

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 rs10867166
dbSNP Clinvar
80851350 222.923 G C PASS 0/1 135 SYNONYMOUS_CODING LOW SILENT 0.28375 0.28370 0.30126 None None None None None None CEP78|0.110277996|49.15%

CNTLN

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 rs41306071
dbSNP Clinvar
17135115 72.9166 C T PASS 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.13139 0.13140 0.21759 None None None None None None CNTLN|0.534626587|14.4%

CNTNAP3

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 rs28647395
dbSNP Clinvar
39118108 249.134 C T PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.33646 0.33650 0.27268 None None None None None None CNTNAP3|0.003914923|87.16%
View tsvc_variants_ionxpress_032 9 rs190162126
dbSNP Clinvar
39133032 464.918 G A PASS 0/1 172 SYNONYMOUS_CODING LOW SILENT 0.00240 0.00240 0.00337 None None None None None None CNTNAP3|0.003914923|87.16%

CNTNAP3B

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 rs62536501
dbSNP Clinvar
43861081 1134.78 T G PASS 1/1 153 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40 0.00 None None None None None None CNTNAP3B|0.003821974|87.27%

COL15A1

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 rs2297603
dbSNP Clinvar
101778265 869.123 G T PASS 1/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08526 0.08526 0.07858 0.07 0.01 None None None None None None COL15A1|0.059345569|60.08%

COL27A1

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 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%

COL5A1

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 rs116715381
dbSNP Clinvar
137593098 63.3012 C T PASS 0/1 99 SYNONYMOUS_CODING LOW SILENT 0.00260 0.00260 0.00338 None None None None None None COL5A1|0.207487878|35.85%
View tsvc_variants_ionxpress_032 9 rs2228560
dbSNP Clinvar
137711997 156.81 G C PASS 0/1 90 SYNONYMOUS_CODING LOW SILENT 0.01937 0.01937 0.42519 None None None None None None COL5A1|0.207487878|35.85%
View tsvc_variants_ionxpress_032 9 rs3827848
dbSNP Clinvar
137707834 108.097 G A PASS 0/1 69 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.12979 0.12980 0.14178 None None None None None None COL5A1|0.207487878|35.85%

COQ4

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 rs3003601
dbSNP Clinvar
131085373 1159.74 G C PASS 1/1 159 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99800 0.99800 0.00295 1.00 0.00 None None None None None None COQ4|0.009066035|81.6%
View tsvc_variants_ionxpress_032 9 rs9697215
dbSNP Clinvar
131085196 194.975 G A PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05172 0.05172 0.04539 0.61 0.06 None None None None None None COQ4|0.009066035|81.6%

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 rs17459086
dbSNP Clinvar
131857687 68.1894 C G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04153 0.04153 0.00877 0.01 0.01 None None None None None None CRAT|0.115517986|48.2%
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%

CRB2

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 rs2488600
dbSNP Clinvar
126135936 135.876 G C PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.20048 0.20050 0.16081 None None None None None None CRB2|0.035723803|67.22%
View tsvc_variants_ionxpress_032 9 rs13290763
dbSNP Clinvar
126133497 157.703 C T PASS 0/1 132 SYNONYMOUS_CODING LOW SILENT 0.19589 0.19590 0.23597 None None None None None None CRB2|0.035723803|67.22%
View tsvc_variants_ionxpress_032 9 rs2808415
dbSNP Clinvar
126125318 2692.92 C A PASS 1/1 362 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99701 0.99700 0.00277 1.00 0.00 None None None None None None CRB2|0.035723803|67.22%
View tsvc_variants_ionxpress_032 9 rs2488601
dbSNP Clinvar
126135715 644.607 A G PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97624 0.97620 0.02453 0.84 0.00 None None None None None None CRB2|0.035723803|67.22%
View tsvc_variants_ionxpress_032 9 rs2488602
dbSNP Clinvar
126133547 977.61 T C PASS 1/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99661 0.99660 0.00277 1.00 0.00 None None None None None None CRB2|0.035723803|67.22%
View tsvc_variants_ionxpress_032 9 rs33984675
dbSNP Clinvar
126132919 73.561 G A PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.19768 0.19770 0.23674 None None None None None None CRB2|0.035723803|67.22%

DAPK1

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 rs3118863
dbSNP Clinvar
90321583 170.387 C T PASS 0/1 183 SYNONYMOUS_CODING LOW SILENT 0.35663 0.35660 0.36191 None None None None None None DAPK1|0.472235209|17.1%

DBH

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 rs143743431
dbSNP Clinvar
136516770 111.419 C T PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.00040 0.00040 0.00469 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%
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 rs5320
dbSNP Clinvar
136507473 274.337 G A PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10184 0.10180 0.08588 0.70 0.00 None None None None None None DBH|0.089974085|53.24%

DDX31

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 rs306547
dbSNP Clinvar
135470414 94.7407 T C PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82688 0.82690 0.19145 0.78 0.00 None None None None None None DDX31|0.04136072|65.35%

DFNB31

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 rs2274159
dbSNP Clinvar
117166246 1319.28 A G PASS 1/1 178 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40635 0.40630 0.41073 1.00 0.00 None None None None None None DFNB31|0.180385449|38.98%
View tsvc_variants_ionxpress_032 9 rs10817610
dbSNP Clinvar
117188566 707.807 C T PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97724 0.97720 0.01938 1.00 0.00 None None None None None None DFNB31|0.180385449|38.98%