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+ Genes 299

Genes:
ABHD17C, ACAN, ACSBG1, ADAL, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AGBL1, AKAP13, ALDH1A2, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANPEP, ANXA2, AQP9, AQR, ARIH1, ARRDC4, ATP10A, ATP8B4, BAHD1, BBS4, BCL2L10, BNIP2, BUB1B, C15orf27, C15orf32, C15orf37, C15orf39, C15orf40, C15orf41, C15orf52, C15orf57, C2CD4B, CASC5, CATSPER2, CCDC33, CDAN1, CERS3, CGNL1, CHAC1, CHD2, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CHSY1, CILP, CORO2B, CPEB1, CRABP1, CSPG4, CTSH, CYFIP1, CYP19A1, CYP1A2, DENND4A, DIS3L, DISP2, DKFZP779J2370, DMXL2, DNAJA4, DUOX1, DUOX2, DUOXA2, DYX1C1, EFTUD1, EIF2AK4, ELL3, EXD1, FAM154B, FAM169B, FAM174B, FAM189A1, FAM214A, FAM81A, FAM96A, FAN1, FANCI, FBN1, FEM1B, FES, FMN1, FRMD5, FSD2, FURIN, GABARAPL3, GABRA5, GABRG3, GANC, GATM, GCOM1, GDPGP1, GJD2, GLCE, GNB5, GOLGA6A, GOLGA6B, GOLGA6D, GOLGA6L1, GOLGA6L4, GOLGA6L6, GOLGA8A, GOLGA8B, GOLGA8F, GOLGA8I, GOLGA8O, GOLGA8S, GOLGA8T, HCN4, HERC1, HERC2, HEXA, HYKK, HYPK, IDH3A, IGDCC3, IGF1R, IL16, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ITGA11, JMJD7-PLA2G4B, KBTBD13, KIAA1024, KIAA1199, KIF23, KIF7, KLF13, KLHL25, LACTB, LARP6, LCMT2, LDHAL6B, LINGO1, LINS, LIPC, LMAN1L, LOXL1, LRRC49, LRRK1, LTK, LYSMD4, MAN2A2, MAN2C1, MAP1A, MAPKBP1, MCTP2, MEF2A, MEGF11, MESP1, MESP2, MFAP1, MFGE8, MGA, MPI, MTMR10, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, NARG2, NDUFAF1, NEDD4, NEO1, NIPA1, NMB, NOX5, NPAP1, NTRK3, NUSAP1, NUTM1, OCA2, ODF3L1, OR4M2, OR4N4, OTUD7A, PAK6, PAQR5, PATL2, PCSK6, PDE8A, PDIA3, PEAK1, PEX11A, PGPEP1L, PHGR1, PIF1, PKM, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLIN1, PML, POLG, POLR2M, POTEB, POTEB2, PPCDC, PRC1, PSMA4, RAB8B, RASL12, RCCD1, RCN2, RFX7, RGMA, RNF111, RORA, RPAP1, RPUSD2, RYR3, SCAPER, SECISBP2L, SEMA4B, SENP8, SHF, SKOR1, SLC12A1, SLC12A6, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLCO3A1, SLTM, SMAD3, SNX1, SORD, SPATA5L1, SPESP1, SPG11, SPINT1, SPRED1, SPTBN5, SQRDL, SRP14, STARD9, STOML1, STRA6, STRC, SYNM, TGM5, TGM7, THAP10, TICRR, TIPIN, TJP1, TLE3, TLN2, TM2D3, TMC3, TMED3, TP53BP1, TPM1, TRIM69, TRIP4, TRPM1, TRPM7, TSPAN3, TTBK2, TTC23, TYRO3, UACA, UBE2Q2, UBR1, ULK3, UNC13C, UNC45A, USP3, USP8, VPS13C, VPS18, VPS33B, VWA9, WDR72, WDR73, WDR76, WDR93, ZFAND6, ZFYVE19, ZNF280D, ZNF592, ZNF609, ZNF770, ZNF774, ZSCAN2, ZSCAN29, ZWILCH,

+ Genes associated with diseases 71

Genes at Omim

ACAN, ADAMTS17, AGBL1, ALPK3, BBS4, BUB1B, C15orf41, CDAN1, CERS3, CHD2, CHRNA3, CHRNA5, CHSY1, CILP, CYP19A1, DMXL2, DUOX2, DUOXA2, EIF2AK4, FAN1, FANCI, FBN1, GATM, GNB5, HCN4, HERC1, HERC2, HEXA, IGF1R, KBTBD13, KIF7, LINGO1, LIPC, LOXL1, MAPKBP1, MEF2A, MESP2, MPI, MYO1E, MYO5A, MYO9A, NDUFAF1, NIPA1, OCA2, PATL2, PLCB2, PLIN1, PML, POLG, RORA, SCAPER, SLC12A1, SLC12A6, SMAD3, SORD, SPG11, SPRED1, STRA6, STRC, TGM5, TPM1, TRIP4, TRPM1, TRPM7, TTBK2, UBR1, USP8, VPS13C, VPS33B, WDR72, WDR73,
ACAN ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ADAMTS17 Weill-Marchesani 4 syndrome, recessive, 613195 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
ALPK3 Cardiomyopathy, familial hypertrophic 27, 618052 (3)
BBS4 Bardet-Biedl syndrome 4, 615982 (3)
BUB1B Colorectal cancer, somatic, 114500 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
[Premature chromatid separation trait], 176430 (3)
C15orf41 Dyserythropoietic anemia, congenital, type Ib, 615631 (3)
CDAN1 Dyserythropoietic anemia, congenital, type Ia, 224120 (3)
CERS3 Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
CHD2 Epileptic encephalopathy, childhood-onset, 615369 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
CHRNA5 {Lung cancer susceptibility 2}, 612052 (3)
{Nicotine dependence, susceptibility to}, 612052 (3)
CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
CYP19A1 Aromatase deficiency, 613546 (3)
Aromatase excess syndrome, 139300 (3)
DMXL2 ?Deafness, autosomal dominant 71, 617605 (3)
?Polyendocrine-polyneuropathy syndrome, 616113 (3)
DUOX2 Thyroid dyshormonogenesis 6, 607200 (3)
DUOXA2 Thyroid dyshormonogenesis 5, 274900 (3)
EIF2AK4 Pulmonary venoocclusive disease 2, 234810 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FANCI Fanconi anemia, complementation group I, 609053 (3)
FBN1 Geleophysic dysplasia 2, 614185 (3)
Ectopia lentis, familial, 129600 (3)
MASS syndrome, 604308 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Acromicric dysplasia, 102370 (3)
Stiff skin syndrome, 184900 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
GNB5 Intellectual developmental disorder with cardiac arrhythmia, 617173 (3)
Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3)
HCN4 Brugada syndrome 8, 613123 (3)
Sick sinus syndrome 2, 163800 (3)
HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HEXA GM2-gangliosidosis, several forms, 272800 (3)
Tay-Sachs disease, 272800 (3)
[Hex A pseudodeficiency], 272800 (3)
IGF1R Insulin-like growth factor I, resistance to, 270450 (3)
KBTBD13 Nemaline myopathy 6, autosomal dominant, 609273 (3)
KIF7 Acrocallosal syndrome, 200990 (3)
Joubert syndrome 12, 200990 (3)
?Hydrolethalus syndrome 2, 614120 (3)
?Al-Gazali-Bakalinova syndrome, 607131 (3)
LINGO1 Mental retardation, autosomal recessive 64, 618103 (3)
LIPC Hepatic lipase deficiency, 614025 (3)
[High density lipoprotein cholesterol level QTL 12], 612797 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
LOXL1 {Exfoliation syndrome, susceptibility to}, 177650 (3)
MAPKBP1 Nephronophthisis 20, 617271 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MPI Congenital disorder of glycosylation, type Ib, 602579 (3)
MYO1E Glomerulosclerosis, focal segmental, 6, 614131 (3)
MYO5A Griscelli syndrome, type 1, 214450 (3)
MYO9A Myasthenic syndrome, congenital, 24, presynaptic, 618198 (3)
NDUFAF1 Mitochondrial complex I deficiency, nuclear type 11, 618234 (3)
NIPA1 Spastic paraplegia 6, autosomal dominant, 600363 (3)
OCA2 Albinism, brown oculocutaneous, 203200 (3)
Albinism, oculocutaneous, type II, 203200 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
PATL2 Oocyte maturation defect 4, 617743 (3)
PLCB2 Platelet PLC beta-2 deficiency (1)
PLIN1 Lipodystrophy, familial partial, type 4, 613877 (3)
PML Leukemia, acute promyelocytic, PML/RARA type (3)
POLG Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)
Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3)
Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)
RORA Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
SLC12A1 Bartter syndrome, type 1, 601678 (3)
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SMAD3 Loeys-Dietz syndrome 3, 613795 (3)
SORD ?Cataract, congenital (2)
SPG11 Amyotrophic lateral sclerosis 5, juvenile, 602099 (3)
Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3)
Spastic paraplegia 11, autosomal recessive, 604360 (3)
SPRED1 Legius syndrome, 611431 (3)
STRA6 Microphthalmia, isolated, with coloboma 8, 601186 (3)
Microphthalmia, syndromic 9, 601186 (3)
STRC Deafness, autosomal recessive 16, 603720 (3)
TGM5 Peeling skin syndrome 2, 609796 (3)
TPM1 Cardiomyopathy, dilated, 1Y, 611878 (3)
Cardiomyopathy, hypertrophic, 3, 115196 (3)
Left ventricular noncompaction 9, 611878 (3)
TRIP4 ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3)
Spinal muscular atrophy with congenital bone fractures 1, 616866 (3)
TRPM1 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
TRPM7 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
TTBK2 Spinocerebellar ataxia 11, 604432 (3)
UBR1 Johanson-Blizzard syndrome, 243800 (3)
USP8 Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)
VPS13C Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
VPS33B Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
WDR72 Amelogenesis imperfecta, type IIA3, 613211 (3)
WDR73 Galloway-Mowat syndrome 1, 251300 (3)

Genes at Clinical Genomics Database

ACAN, ADAMTS17, AGBL1, BBS4, BUB1B, CDAN1, CERS3, CHD2, CHSY1, CYP19A1, CYP1A2, DMXL2, DUOX2, DUOXA2, DYX1C1, EIF2AK4, FAN1, FANCI, FBN1, GATM, HCN4, HERC2, HEXA, IGF1R, KBTBD13, KIF7, LIPC, MESP2, MPI, MYO1E, MYO5A, NDUFAF1, NIPA1, OCA2, PLIN1, POLG, SLC12A1, SLC12A6, SMAD3, SPG11, SPRED1, STRA6, STRC, TGM5, TPM1, TRIP4, TRPM1, TTBK2, UBR1, VPS13C, WDR72, WDR73, ZNF592,
ACAN Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ADAMTS17 Weill-Marchesani-like syndrome
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
BBS4 Bardet-Biedl syndrome 4
BUB1B Mosaic variegated aneuploidy syndrome
Premature chromatid separation trait
CDAN1 Anemia, dyserythropoietic congenital, type Ia
CERS3 Ichthyosis, congenital, autosomal recessive 9
CHD2 Epileptic encephalopathy, childhood-onset
CHSY1 Temtamy preaxial brachydactyly syndrome
CYP19A1 Aromatase deficiency
CYP1A2 CYP1A2-related drug metabolism
DMXL2 Polyendocrine-polyneuropathy syndrome
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
DYX1C1 Ciliary dyskinesia, primary 25
EIF2AK4 Pulmonary venoocclusive disease 2
FAN1 Interstitial nephritis, karyomegalic
FANCI Fanconi anemia, complementation group I
FBN1 Marfan syndrome
MASS syndrome
Shprintzen-Goldberg syndrome
Marfan lipodystrophy syndrome
GATM Cerebral creatine deficiency syndrome 3
HCN4 Brugada syndrome 8
Sick sinus syndrome 2
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
HEXA Tay-Sachs disease
GM2-gangliosidosis
Hexosaminidase A deficiency
IGF1R Insulin-like growth factor I, resistance to
KBTBD13 Nemaline myopathy 6
KIF7 Hydrolethalus syndrome 2
Acrocallosal syndrome
Joubert syndrome 12
Al-Gazali-Bakalinova syndrome
LIPC Hepatic lipase deficiency
MESP2 Spondylocostal dysostosis 2, autosomal recessive
MPI Congenital disorder of glycosylation, type Ib
MYO1E Focal segmental glomerulosclerosis 6
MYO5A Griscelli syndrome, type 1
NDUFAF1 Mitochondrial complex I deficiency
NIPA1 Spastic paraplegia 6
OCA2 Albinism, oculocutaneous, type II
Albinism, brown oculocutaneous
Skin/hair/eye pigmentation 1
PLIN1 Lipodystrophy, familial partial, type 4
POLG Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4B
Sensory ataxia, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4A (Alpers type)
Alpers syndrome
POLG-related ataxia neuropathy spectrum disorders
SLC12A1 Bartter syndrome, antenatal, type 1
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SMAD3 Aneurysms-osteoarthritis syndrome
Loeys-Dietz syndrome, type 3
SPG11 Amyotrophic lateral sclerosis 5, juvenile recessive
Charcot-Marie-Tooth disease, axonal, type 2X
Spastic paraplegia 11
SPRED1 Legius syndrome
STRA6 Microphthalmia, syndromic 9
Microphthalmia, isolated, with coloboma 8
STRC Deafness, autosomal recessive 16
TGM5 Peeling skin syndrome 2
TPM1 Cardiomyopathy, dilated, 1Y
Cardiomyopathy, familial hypertrophic, 3
TRIP4 Spinal muscular atrophy with congenital bone fractures 1 (AR)
TRPM1 Night blindness, congenital stationary, type 1C
TTBK2 Spinocerebellar ataxia 11
UBR1 Johanson-Blizzard syndrome
VPS13C Parkinson disease 23, autosomal recessive, early onset
WDR72 Amelogenesis imperfecta, hypomaturation type, IIA3
WDR73 Galloway-Mowat syndrome
ZNF592 Spinocerebellar ataxia, autosomal recessive 5

Genes at HGMD

Summary

Number of Variants: 2183
Number of Genes: 299

Export to: CSV

ABHD17C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs62007944
dbSNP Clinvar 		80987812 5272.9 T C PASS 1|1 46 SYNONYMOUS_CODING LOW None 0.97744 0.97740 0.01825 None None None None None None ABHD17C|0.053788984|61.53%

ACAN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs938608
dbSNP Clinvar 		89398605 4165.16 G T PASS 1|1 53 NON_SYNONYMOUS_CODING MODERATE None 0.45268 0.45270 0.40313 0.01 0.84 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2272023
dbSNP Clinvar 		89391160 2842.13 C A PASS 1|1 38 SYNONYMOUS_CODING LOW None 0.69429 0.69430 0.20369 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs1568116
dbSNP Clinvar 		89392745 3419.9 T C PASS 1|1 43 SYNONYMOUS_CODING LOW None 0.99561 0.99560 0.00990 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs34949187
dbSNP Clinvar 		89386652 422.16 G A PASS 0|1 21 NON_SYNONYMOUS_CODING MODERATE None 0.08207 0.08207 0.13300 0.02 0.00 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2351491
dbSNP Clinvar 		89398105 334.94 C T PASS 1|1 7 SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.47549 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs3743399
dbSNP Clinvar 		89398330 1150.13 G A PASS 1|1 15 SYNONYMOUS_CODING LOW None 0.00040 0.75900 0.13242 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs938609
dbSNP Clinvar 		89398631 3672.16 T A PASS 1|1 51 NON_SYNONYMOUS_CODING MODERATE None 0.39217 0.39220 0.43306 0.07 0.22 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2882676
dbSNP Clinvar 		89400339 8591.16 A C PASS 1|1 140 NON_SYNONYMOUS_CODING MODERATE None 0.42412 0.42410 0.43105 0.19 0.12 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4932439
dbSNP Clinvar 		89401109 7567.13 A G PASS 1|1 113 NON_SYNONYMOUS_CODING MODERATE None 0.76038 0.76040 0.13224 1.00 0.01 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs3825994
dbSNP Clinvar 		89401615 7591.13 T G PASS 1|1 105 SYNONYMOUS_CODING LOW None 0.53255 0.53250 0.35216 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs1042630
dbSNP Clinvar 		89402051 2423.13 A G PASS 1|1 31 NON_SYNONYMOUS_CODING MODERATE None 0.64597 0.64600 0.26503 0.20 0.01 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs1042631
dbSNP Clinvar 		89402239 3546.13 T C PASS 1|1 50 SYNONYMOUS_CODING LOW None 0.73642 0.73640 0.18514 None None None None None None ACAN|0.017538305|75.58%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs698621
dbSNP Clinvar 		89402596 7491.16 T G PASS 1|1 151 SYNONYMOUS_CODING LOW None 0.45148 0.45150 0.45219 None None None None None None ACAN|0.017538305|75.58%

ACSBG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2304824
dbSNP Clinvar 		78466127 5539.16 T C PASS 1|1 112 NON_SYNONYMOUS_CODING MODERATE None 0.52676 0.52680 0.43674 0.87 0.00 None None None None None None ACSBG1|0.055446923|61.08%

ADAL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2278857
dbSNP Clinvar 		43632549 1031.16 T C PASS 1|0 51 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.53914 0.53910 0.48339 None None None None None None ADAL|0.343367733|24.61%

ADAMTS17
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs12907333
dbSNP Clinvar 		100672237 7160.9 T G PASS 1|1 84 SYNONYMOUS_CODING LOW None 0.99760 0.99760 0.00162 None None None None None None ADAMTS17|0.138524801|44.61%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs7496668
dbSNP Clinvar 		100821576 5565.92 G A PASS 0/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.48463 0.48460 0.36257 0.16 0.00 None None None None None None ADAMTS17|0.138524801|44.61%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs7496640
dbSNP Clinvar 		100821467 2436.92 G A PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.50000 0.50000 0.38498 None None None None None None ADAMTS17|0.138524801|44.61%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4965613
dbSNP Clinvar 		100801698 7119.9 G A PASS 1|1 80 SYNONYMOUS_CODING LOW None 0.69209 0.69210 0.32600 None None None None None None ADAMTS17|0.138524801|44.61%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4369638
dbSNP Clinvar 		100794363 11047.9 C T PASS 1|1 129 SYNONYMOUS_CODING LOW None 0.82149 0.82150 0.25465 None None None None None None ADAMTS17|0.138524801|44.61%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2573652
dbSNP Clinvar 		100514614 8258.16 T C PASS 1|0 158 NON_SYNONYMOUS_CODING MODERATE None 0.67951 0.67950 0.28556 1.00 0.00 None None None None None None ADAMTS17|0.138524801|44.61%

ADAMTS7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11630236
dbSNP Clinvar 		79058298 1600.92 T C HARD_TO_VALIDATE 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.18111 0.18110 0.55 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs200436984
dbSNP Clinvar 		79058307 187.16 A T HARD_TO_VALIDATE 1|0 36 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs746840767
dbSNP Clinvar 		79058317 466.92 C T HARD_TO_VALIDATE 0/1 36 SYNONYMOUS_CODING LOW None None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs199823022
dbSNP Clinvar 		79058339 544.92 A C HARD_TO_VALIDATE 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.48 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs201636673
dbSNP Clinvar 		79058375 1147.92 A G HARD_TO_VALIDATE 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs201462332
dbSNP Clinvar 		79058378 1144.92 A G HARD_TO_VALIDATE 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.81 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs1809421
dbSNP Clinvar 		79058572 8799.9 T G PASS 1|1 118 SYNONYMOUS_CODING LOW None 0.00080 0.00080 0.06722 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs1809422
dbSNP Clinvar 		79058923 2933.9 G A PASS 1|1 23 SYNONYMOUS_CODING LOW None 0.94768 0.94770 0.02360 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs28699256
dbSNP Clinvar 		79058951 1432.16 T C PASS 1|1 25 NON_SYNONYMOUS_CODING MODERATE None 0.27177 0.27180 0.36795 0.68 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11854507
dbSNP Clinvar 		79069121 3172.16 A G PASS 1|1 60 SYNONYMOUS_CODING LOW None 0.25340 0.25340 0.33291 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11635931
dbSNP Clinvar 		79064080 7159.16 G A PASS 1|1 153 SYNONYMOUS_CODING LOW None 0.18610 0.18610 0.31892 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11635870
dbSNP Clinvar 		79064143 3241.16 C G PASS 1|1 52 SYNONYMOUS_CODING LOW None 0.18610 0.18610 0.31877 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs7173267
dbSNP Clinvar 		79092750 2783.13 G C PASS 1|1 30 SYNONYMOUS_CODING LOW None 0.24860 0.24860 0.32778 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2277549
dbSNP Clinvar 		79067055 1215.16 C T PASS 1|0 121 NON_SYNONYMOUS_CODING MODERATE None 0.25200 0.25200 0.31 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs3743057
dbSNP Clinvar 		79089007 6302.9 T C PASS 1|1 50 SYNONYMOUS_CODING LOW None 0.79253 0.79250 0.25304 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs3825807
dbSNP Clinvar 		79089111 2514.13 A G PASS 1|1 33 NON_SYNONYMOUS_CODING MODERATE None 0.25020 0.25020 0.34649 0.40 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs7495616
dbSNP Clinvar 		79054900 652.16 C G PASS 1|1 15 NON_SYNONYMOUS_CODING MODERATE None 0.66653 0.66650 0.26927 1.00 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2929155
dbSNP Clinvar 		79058013 1732.16 C T PASS 1|1 31 NON_SYNONYMOUS_CODING MODERATE None 0.67013 0.67010 0.25344 1.00 0.00 None None None None None None ADAMTS7|0.010836867|80.23%

ADAMTSL3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4483821
dbSNP Clinvar 		84488636 10742.9 A G PASS 1|1 145 NON_SYNONYMOUS_CODING MODERATE None 0.67931 0.67930 0.43749 0.57 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs950169
dbSNP Clinvar 		84706461 1758.16 C T PASS 0|1 26 NON_SYNONYMOUS_CODING MODERATE None 0.12899 0.12900 0.19479 0.05 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs7176737
dbSNP Clinvar 		84651290 8100.9 T C PASS 1|1 84 SYNONYMOUS_CODING LOW None 0.86921 0.86920 0.16600 None None None None None None ADAMTSL3|0.040550889|65.6%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs8031704
dbSNP Clinvar 		84651185 5485.16 C A PASS 0|1 104 SYNONYMOUS_CODING LOW None 0.37600 0.37600 0.40989 None None None None None None ADAMTSL3|0.040550889|65.6%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4842838
dbSNP Clinvar 		84582124 3026.9 G T PASS 1|1 22 NON_SYNONYMOUS_CODING MODERATE None 0.68570 0.68570 0.38182 1.00 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4842923
dbSNP Clinvar 		84581904 6729.9 T C PASS 1|1 61 SYNONYMOUS_CODING LOW None 0.68610 0.68610 0.38175 None None None None None None ADAMTSL3|0.040550889|65.6%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs12439867
dbSNP Clinvar 		84581889 1378.16 G A PASS 1|0 47 SYNONYMOUS_CODING LOW None 0.38638 0.38640 0.28833 None None None None None None ADAMTSL3|0.040550889|65.6%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4144691
dbSNP Clinvar 		84539619 4025.9 C G PASS 1|1 48 NON_SYNONYMOUS_CODING MODERATE None 0.80751 0.80750 0.15170 1.00 0.00 None None None None None None ADAMTSL3|0.040550889|65.6%

ADPGK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11634630
dbSNP Clinvar 		73067234 2107.9 T C PASS 1|1 23 SYNONYMOUS_CODING LOW None 0.96006 0.96010 0.03962 None None None None None None ADPGK|0.134394275|45.22%

AEN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs8027765
dbSNP Clinvar 		89169858 9380.9 A G PASS 1|1 129 NON_SYNONYMOUS_CODING MODERATE None 0.75839 0.75840 0.18626 1.00 0.00 None None None None None None AEN|0.108873578|49.4%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs3743476
dbSNP Clinvar 		89169614 1188.16 A G PASS 1|0 54 SYNONYMOUS_CODING LOW None 0.19788 0.19790 0.26836 None None None None None None AEN|0.108873578|49.4%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs3743475
dbSNP Clinvar 		89172558 10050.9 G C PASS 1|1 130 SYNONYMOUS_CODING LOW None 0.75240 0.75240 0.19457 None None None None None None AEN|0.108873578|49.4%

AGBL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11858435
dbSNP Clinvar 		86814866 7467.13 A G PASS 1|1 100 SYNONYMOUS_CODING LOW None 0.68211 0.68210 0.26808 None None None None None None AGBL1|0.082073978|54.74%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4362360
dbSNP Clinvar 		86940622 2152.13 T C PASS 1|1 30 SYNONYMOUS_CODING LOW None 0.74421 0.74420 0.39279 None None None None None None AGBL1|0.082073978|54.74%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs1566088
dbSNP Clinvar 		86806029 6245.13 C T PASS 1|1 102 SYNONYMOUS_CODING LOW None 0.30818 None None None None None None AGBL1|0.082073978|54.74%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs10520617
dbSNP Clinvar 		86807542 1377.16 C T PASS 0|1 54 SYNONYMOUS_CODING LOW None 0.12800 0.12800 0.16026 None None None None None None AGBL1|0.082073978|54.74%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs8028043
dbSNP Clinvar 		87217613 6930.9 A G PASS 1|1 97 NON_SYNONYMOUS_CODING MODERATE None 0.89217 0.89220 0.11030 1.00 0.00 None None None None None None AGBL1|0.082073978|54.74%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs1006030
dbSNP Clinvar 		87531281 5527.16 A C PASS 1|1 120 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.19396 None None None None None None AGBL1|0.082073978|54.74%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs10520618
dbSNP Clinvar 		86807761 2882.92 A G PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.50539 0.50540 0.47409 None None None None None None AGBL1|0.082073978|54.74%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11857527
dbSNP Clinvar 		86807843 1307.16 T C PASS 0|1 37 NON_SYNONYMOUS_CODING MODERATE None 0.13359 0.13360 0.16900 0.05 0.01 None None None None None None AGBL1|0.082073978|54.74%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11856833
dbSNP Clinvar 		86807884 1807.16 A C PASS 0|1 52 SYNONYMOUS_CODING LOW None 0.13379 0.13380 0.17401 None None None None None None AGBL1|0.082073978|54.74%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs1353578
dbSNP Clinvar 		86800209 4111.13 C T PASS 1|1 81 SYNONYMOUS_CODING LOW None 0.53974 0.53970 0.35463 None None None None None None AGBL1|0.082073978|54.74%

AKAP13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs7162168
dbSNP Clinvar 		86124946 6925.9 T C PASS 1|1 66 NON_SYNONYMOUS_CODING MODERATE None 0.58267 0.58270 0.37302 0.72 0.00 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs7178065
dbSNP Clinvar 		86125031 9682.9 G A PASS 1|1 130 SYNONYMOUS_CODING LOW None 0.57668 0.57670 0.37471 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4843073
dbSNP Clinvar 		86124419 5057.9 C T PASS 1|1 53 SYNONYMOUS_CODING LOW None 0.58147 0.58150 0.37371 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4843075
dbSNP Clinvar 		86124555 5659.9 G A PASS 1|1 71 NON_SYNONYMOUS_CODING MODERATE None 0.58127 0.58130 0.37364 1.00 0.00 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11633087
dbSNP Clinvar 		86124968 7913.9 G A PASS 1|1 87 SYNONYMOUS_CODING LOW None 0.57568 0.57570 0.38048 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4843074
dbSNP Clinvar 		86124483 9749.9 C G PASS 1|1 113 NON_SYNONYMOUS_CODING MODERATE None 0.58187 0.58190 0.37410 0.16 0.00 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2061824
dbSNP Clinvar 		86123019 8235.9 C T PASS 1|1 116 NON_SYNONYMOUS_CODING MODERATE None 0.58307 0.58310 0.37325 1.00 0.00 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2241268
dbSNP Clinvar 		86278309 3210.91 G A PASS 0|1 89 NON_SYNONYMOUS_CODING MODERATE None 0.13658 0.13660 0.19151 0.04 0.09 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs745191
dbSNP Clinvar 		86123170 4646.9 G T PASS 0|1 148 NON_SYNONYMOUS_CODING MODERATE None 0.13459 0.13460 0.20412 0.01 0.70 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs7177107
dbSNP Clinvar 		86123364 4292.9 G A PASS 1|0 140 NON_SYNONYMOUS_CODING MODERATE None 0.07608 0.07608 0.16205 0.65 0.00 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4075256
dbSNP Clinvar 		86123833 4419.9 T C PASS 1|1 46 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.58210 0.37417 1.00 0.00 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2061823
dbSNP Clinvar 		86122916 5032.9 T C PASS 1|1 63 SYNONYMOUS_CODING LOW None 0.58327 0.58330 0.37356 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 . 86198696 869.16 A G PASS 0|1 45 NON_SYNONYMOUS_CODING MODERATE None 0.40 0.13 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4075255
dbSNP Clinvar 		86123924 11292.9 C T PASS 1|1 144 SYNONYMOUS_CODING LOW None 0.58227 0.58230 0.37379 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4075254
dbSNP Clinvar 		86123988 7963.9 G A PASS 1|1 89 NON_SYNONYMOUS_CODING MODERATE None 0.58207 0.58210 0.37356 0.14 0.01 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2061822
dbSNP Clinvar 		86122779 8300.9 T C PASS 1|1 95 NON_SYNONYMOUS_CODING MODERATE None 0.59625 0.59620 0.35095 0.09 0.00 None None None None None None AKAP13|0.042148693|65.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2061821
dbSNP Clinvar 		86122654 6824.9 T C PASS 1|1 67 NON_SYNONYMOUS_CODING MODERATE None 0.58307 0.58310 0.37287 1.00 0.00 None None None None None None AKAP13|0.042148693|65.04%

ALDH1A2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs35251510
dbSNP Clinvar 		58253490 3129.16 G T PASS 0|1 186 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.01118 0.01118 0.00532 None None None None None None ALDH1A2|0.864934326|4.39%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4646626
dbSNP Clinvar 		58256127 5315.13 C T PASS 1|1 72 NON_SYNONYMOUS_CODING MODERATE None 0.37280 0.37280 0.47193 0.33 0.00 None None None None None None ALDH1A2|0.864934326|4.39%

ALPK3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs167379
dbSNP Clinvar 		85401419 2354.9 T C PASS 1|1 22 SYNONYMOUS_CODING LOW None 0.84784 0.84780 0.16228 None None None None None None ALPK3|0.009711296|81.06%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs306197
dbSNP Clinvar 		85401259 999.91 C T PASS 1|1 11 NON_SYNONYMOUS_CODING MODERATE None 0.80471 0.80470 0.21088 0.84 0.00 None None None None None None ALPK3|0.009711296|81.06%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs3803406
dbSNP Clinvar 		85383839 1838.9 G A PASS 1|1 24 SYNONYMOUS_CODING LOW None 0.74361 0.74360 0.32490 None None None None None None ALPK3|0.009711296|81.06%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs3803405
dbSNP Clinvar 		85383640 2606.92 G A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.13798 0.13800 0.19734 0.06 0.02 None None None None None None ALPK3|0.009711296|81.06%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs3803403
dbSNP Clinvar 		85383145 3282.92 C G PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.13638 0.13640 0.19848 0.07 0.04 None None None None None None ALPK3|0.009711296|81.06%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11857356
dbSNP Clinvar 		85360101 2907.9 T C PASS 1|1 28 SYNONYMOUS_CODING LOW None 0.86482 0.86480 0.14436 None None None None None None ALPK3|0.009711296|81.06%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs187316
dbSNP Clinvar 		85405995 2557.92 T C PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.15036 0.15040 0.19955 0.00 0.99 None None None None None None ALPK3|0.009711296|81.06%

ANKDD1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2414865
dbSNP Clinvar 		65236875 1622.16 T C PASS 0|1 104 SYNONYMOUS_CODING LOW None 0.55292 0.55290 0.45293 None None None None None None ANKDD1A|0.020521915|73.92%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs34988193
dbSNP Clinvar 		65235776 2051.16 A G PASS 0|1 89 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.24621 0.24620 0.28673 0.00 0.98 None None None None None None ANKDD1A|0.020521915|73.92%

ANKRD34C
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs8038778
dbSNP Clinvar 		79586361 3811.16 T C PASS 1|0 78 SYNONYMOUS_CODING LOW None 0.68371 0.68370 None None None None None None ANKRD34C|0.011717454|79.43%

ANKRD63
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4924446
dbSNP Clinvar 		40573716 2418.9 A G PASS 1|1 20 NON_SYNONYMOUS_CODING MODERATE None 0.99701 0.99700 1.00 0.00 None None None None None None PLCB2|0.161252195|41.37%,ANKRD63|0.046527849|63.73%

ANPEP
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs25653
dbSNP Clinvar 		90349558 4806.9 C T PASS 0|1 141 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57907 0.57910 0.36598 0.53 0.00 None None None None None None ANPEP|0.009750059|81.03%

ANXA2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs12904657
dbSNP Clinvar 		60690089 991.16 A G PASS 1|1 19 SYNONYMOUS_CODING LOW None 0.79433 0.79430 0.25341 None None None None None None ANXA2|0.820928885|5.29%

AQP9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs2249783
dbSNP Clinvar 		58471368 9187.9 C T PASS 1|1 117 SYNONYMOUS_CODING LOW None 0.83646 0.83650 0.09948 None None None None None None ALDH1A2|0.864934326|4.39%,AQP9|0.053776428|61.54%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs1867380
dbSNP Clinvar 		58476281 5299.9 A G PASS 1|1 71 NON_SYNONYMOUS_CODING MODERATE None 0.84285 0.84290 0.09940 1.00 0.00 None None None None None None ALDH1A2|0.864934326|4.39%,AQP9|0.053776428|61.54%

AQR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs8035240
dbSNP Clinvar 		35149008 698.94 C T PASS 1|1 7 SYNONYMOUS_CODING LOW None 0.97744 0.97740 0.02611 None None None None None None AQR|0.159778967|41.59%

ARIH1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs759090069
dbSNP Clinvar 		72767214 176.13 T TGGC PASS 0|1 6 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ARIH1|0.532256681|14.49%

ARRDC4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs12101554
dbSNP Clinvar 		98504326 2202.92 A G PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.76218 0.76220 0.26056 0.32 0.00 None None None None None None ARRDC4|0.053899861|61.5%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs4965046
dbSNP Clinvar 		98504100 104.93 G C PASS 1|0 6 SYNONYMOUS_CODING LOW None 0.76238 0.76240 0.23067 None None None None None None ARRDC4|0.053899861|61.5%