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Genes:
AARS, ABAT, ABCA3, ABCC1, ABCC12, ABCC6, AC004381.6, AC135048.1, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM5, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, AHSP, ALG1, ANKRD11, ANKS4B, AP1G1, APOBR, AQP8, ARHGDIG, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATXN2L, AXIN1, BAIAP3, BANP, BBS2, BCAR1, BCKDK, BRICD5, C16orf13, C16orf3, C16orf46, C16orf62, C16orf89, C16orf95, C16orf96, CA5A, CACNA1H, CALB2, CAPN15, CAPNS2, CARHSP1, CASKIN1, CBFA2T3, CCDC102A, CCDC135, CCDC154, CCDC64B, CCDC78, CCDC79, CCL22, CCP110, CD19, CDH1, CDH11, CDH13, CDH15, CDH3, CDH5, CDIP1, CDK10, CDT1, CDYL2, CENPBD1, CENPN, CES1, CES5A, CETP, CFDP1, CHD9, CHST5, CHTF18, CIITA, CLCN7, CLDN6, CLEC16A, CLEC18A, CLEC18B, CLEC3A, CLUAP1, CMC2, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COQ7, CORO1A, CORO7, CORO7-PAM16, COX4I1, CPNE2, CPPED1, CRAMP1L, CRISPLD2, CRYM, CTC-786C10.1, CTD-2600O9.1, CTD-3088G3.8, CTRB2, CTU2, CYB5B, CYBA, CYLD, DCUN1D3, DDX28, DEF8, DHODH, DHX38, DNAAF1, DNAH3, DNAJA3, DNASE1, DOC2A, DPEP1, DPEP2, DYNLRB2, E2F4, E4F1, EARS2, EEF2K, EIF3CL, ELMO3, EME2, EMP2, ERI2, EXOC3L1, FA2H, FAM173A, FAM57B, FAM86A, FANCA, FBXL16, FLYWCH1, FLYWCH2, FOXC2, FOXF1, FUK, FUS, GABARAPL2, GALNS, GAS8, GCSH, GDPD3, GFOD2, GGA2, GLG1, GLIS2, GLYR1, GNG13, GOT2, GPR114, GPR139, GPR56, GPR97, GRIN2A, GSG1L, GSPT1, GTF3C1, HAGH, HAGHL, HBZ, HCFC1R1, HEATR3, HERPUD1, HS3ST2, HS3ST4, HS3ST6, HSD3B7, HYDIN, IFT140, IGFALS, IL27, IL34, IL4R, IQCK, IRF8, IRX3, IRX5, IST1, ITGAD, ITGAL, ITGAM, ITGAX, JPH3, KAT8, KATNB1, KCNG4, KIAA0556, KIF22, KIFC3, KLHDC4, KLHL36, KNOP1, KREMEN2, LCMT1, LITAF, LMF1, LPCAT2, MAPK8IP3, MARVELD3, MBTPS1, MC1R, MEFV, MEIOB, METRN, METTL22, MGRN1, MKL2, MMP2, MMP25, MON1B, MPHOSPH6, MRPL28, MSLN, MT1H, MT1M, MT4, MTHFSD, MTSS1L, MVD, MYH11, MYLK3, N4BP1, NAA60, NAE1, NAGPA, NARFL, NDE1, NDRG4, NDUFB10, NECAB2, NFATC2IP, NLRC3, NLRC5, NME3, NME4, NOB1, NOD2, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA3, NPIPA5, NPIPA7, NPIPB11, NPIPB15, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPRL3, NQO1, NSMCE1, NUBP2, NUDT7, NUP93, OR1F1, OR2C1, ORAI3, OSGIN1, PDIA2, PDILT, PDPK1, PDPR, PDXDC1, PHLPP2, PIEZO1, PIGQ, PKD1, PKD1L2, PKMYT1, PLCG2, PLLP, POLR2C, POLR3K, PPL, PPP4C, PRDM7, PRKCB, PRM1, PRM3, PRR14, PRR25, PRRT2, PRSS21, PRSS33, PRSS36, PRSS54, PTX4, QPRT, RAB11FIP3, RBBP6, RBL2, RFWD3, RGS11, RHBDF1, RHOT2, RNF40, RP11-680G10.1, RP11-830F9.6, RPGRIP1L, RPL13, RPL3L, RPS2, RPUSD1, RRN3, RSL1D1, SALL1, SCNN1B, SDR42E1, SEC14L5, SEPT1, SEPT12, SETD1A, SETD6, SEZ6L2, SF3B3, SHCBP1, SHISA9, SLC12A3, SLC22A31, SLC38A7, SLC38A8, SLC5A11, SLC6A2, SLC7A5, SLC9A3R2, SLX4, SMG1, SMIM22, SNAI3, SNN, SNRNP25, SNX20, SNX29, SOCS1, SOX8, SPATA2L, SPG7, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, STUB1, SULT1A1, SULT1A2, SULT1A3, SULT1A4, SYCE1L, SYT17, TAF1C, TANGO6, TAOK2, TAT, TBC1D10B, TBL3, TCEB2, TCF25, TEKT5, TELO2, TEPP, TERF2IP, TFAP4, THUMPD1, TLDC1, TMC5, TMC7, TMEM159, TMEM204, TMEM8A, TNFRSF17, TNP2, TNRC6A, TOX3, TP53TG3D, TPSAB1, TPSB2, TPSD1, TPSG1, TRIM72, TXNDC11, UBE2I, UBN1, UMOD, UNKL, UQCRC2, USP10, USP7, VAC14, VASN, VKORC1, VPS35, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WWOX, WWP2, XPO6, XYLT1, ZC3H18, ZC3H7A, ZCCHC14, ZDHHC7, ZFHX3, ZFPM1, ZG16, ZG16B, ZKSCAN2, ZNF174, ZNF19, ZNF23, ZNF267, ZNF276, ZNF319, ZNF423, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF646, ZNF668, ZNF720, ZNF768, ZNF778, ZNF843, ZP2,

Genes at Omim

AARS, ABAT, ABCA3, ABCC6, ACD, ACSF3, ADAMTS18, ALG1, ANKRD11, ARMC5, ATP2A1, AXIN1, BBS2, BCKDK, CA5A, CACNA1H, CCDC78, CD19, CDH1, CDH11, CDH15, CDH3, CDK10, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COQ7, CORO1A, CRYM, CTU2, CYBA, CYLD, DHODH, DHX38, DNAAF1, DNASE1, EARS2, EMP2, FA2H, FANCA, FOXC2, FOXF1, FUS, GALNS, GAS8, GCSH, GLIS2, GRIN2A, HAGH, HSD3B7, HYDIN, IFT140, IGFALS, IL4R, IRF8, IRX5, JPH3, KATNB1, KIF22, LITAF, LMF1, MC1R, MEFV, MEIOB, MMP2, MVD, MYH11, NDE1, NOD2, NPRL3, NQO1, NUP93, PIEZO1, PKD1, PLCG2, PRRT2, RFWD3, RPGRIP1L, SALL1, SCNN1B, SEPT12, SLC12A3, SLC38A8, SLC6A2, SLX4, SRCAP, SSTR5, STUB1, TAT, TELO2, TNRC6A, UMOD, UQCRC2, VAC14, VKORC1, VPS35, WWOX, XYLT1, ZFHX3, ZNF423, ZNF469, ZP2,
AARS Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)
Epileptic encephalopathy, early infantile, 29, 616339 (3)
ABAT GABA-transaminase deficiency, 613163 (3)
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ACD ?Dyskeratosis congenita, autosomal dominant 6, 616553 (3)
?Dyskeratosis congenita, autosomal recessive 7, 616553 (3)
ACSF3 Combined malonic and methylmalonic aciduria, 614265 (3)
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
ALG1 Congenital disorder of glycosylation, type Ik, 608540 (3)
ANKRD11 KBG syndrome, 148050 (3)
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ATP2A1 Brody myopathy, 601003 (3)
AXIN1 Hepatocellular carcinoma, somatic, 114550 (3)
?Caudal duplication anomaly, 607864 (3)
BBS2 Bardet-Biedl syndrome 2, 615981 (3)
Retinitis pigmentosa 74, 616562 (3)
BCKDK Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
CA5A Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CCDC78 ?Centronuclear myopathy 4, 614807 (3)
CD19 Immunodeficiency, common variable, 3, 613493 (3)
CDH1 Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, 137215 (3)
Blepharocheilodontic syndrome 1, 119580 (3)
Endometrial carcinoma, somatic, 608089 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
Ovarian cancer, somatic, 167000 (3)
{Breast cancer, lobular}, 114480 (3)
CDH11 Elsahy-Waters syndrome, 211380 (3)
CDH15 Mental retardation, autosomal dominant 3, 612580 (3)
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
CDK10 Al Kaissi syndrome, 617694 (3)
CDT1 Meier-Gorlin syndrome 4, 613804 (3)
CES1 Drug metabolism, altered, CES1-related, 618057 (3)
CETP Hyperalphalipoproteinemia, 143470 (3)
[High density lipoprotein cholesterol level QTL 10], 143470 (3)
CIITA Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
CNGB1 Retinitis pigmentosa 45, 613767 (3)
COG4 Congenital disorder of glycosylation, type IIj, 613489 (3)
Saul-Wilson syndrome, 618150 (3)
COQ7 ?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
CORO1A Immunodeficiency 8, 615401 (3)
CRYM Deafness, autosomal dominant 40, 616357 (3)
CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
CYLD Brooke-Spiegler syndrome, 605041 (3)
Cylindromatosis, familial, 132700 (3)
Trichoepithelioma, multiple familial, 1, 601606 (3)
DHODH Miller syndrome, 263750 (3)
DHX38 Retinitis pigmentosa 84, 618220 (3)
DNAAF1 Ciliary dyskinesia, primary, 13, 613193 (3)
DNASE1 {Systemic lupus erythematosus, susceptibility to}, 152700 (3)
EARS2 Combined oxidative phosphorylation deficiency 12, 614924 (3)
EMP2 Nephrotic syndrome, type 10, 615861 (3)
FA2H Spastic paraplegia 35, autosomal recessive, 612319 (3)
FANCA Fanconi anemia, complementation group A, 227650 (3)
FOXC2 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3)
Lymphedema-distichiasis syndrome, 153400 (3)
FOXF1 Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3)
FUS Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3)
Essential tremor, hereditary, 4, 614782 (3)
GALNS Mucopolysaccharidosis IVA, 253000 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
GCSH ?Glycine encephalopathy, 605899 (3)
GLIS2 Nephronophthisis 7, 611498 (3)
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)
HAGH [Glyoxalase II deficiency], 614033 (1)
HSD3B7 Bile acid synthesis defect, congenital, 1, 607765 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IFT140 Retinitis pigmentosa 80, 617781 (3)
Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
IGFALS Acid-labile subunit, deficiency of, 615961 (3)
IL4R {AIDS, slow progression to}, 609423 (3)
{Atopy, susceptibility to}, 147050 (3)
IRF8 Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3)
Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3)
IRX5 Hamamy syndrome, 611174 (3)
JPH3 Huntington disease-like 2, 606438 (3)
KATNB1 Lissencephaly 6, with microcephaly, 616212 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
LITAF Charcot-Marie-Tooth disease, type 1C, 601098 (3)
LMF1 Lipase deficiency, combined, 246650 (3)
MC1R {Melanoma, cutaneous malignant, 5}, 613099 (3)
{UV-induced skin damage}, 266300 (3)
[Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3)
[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3)
[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3)
{Albinism, oculocutaneous, type II, modifier of}, 203200 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MEIOB ?Spermatogenic failure 22, 617706 (3)
MMP2 Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
MVD Porokeratosis 7, multiple types, 614714 (3)
MYH11 Aortic aneurysm, familial thoracic 4, 132900 (3)
NDE1 Lissencephaly 4 (with microcephaly), 614019 (3)
?Microhydranencephaly, 605013 (3)
NOD2 Blau syndrome, 186580 (3)
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (2)
{Yao syndrome}, 617321 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NQO1 {Leukemia, post-chemotherapy, susceptibility to} (3)
{Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
NUP93 Nephrotic syndrome, type 12, 616892 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
PKD1 Polycystic kidney disease 1, 173900 (3)
PLCG2 Familial cold autoinflammatory syndrome 3, 614468 (3)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
PRRT2 Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3)
Episodic kinesigenic dyskinesia 1, 128200 (3)
Seizures, benign familial infantile, 2, 605751 (3)
RFWD3 ?Fanconi anemia, complementation group W, 617784 (3)
RPGRIP1L COACH syndrome, 216360 (3)
Joubert syndrome 7, 611560 (3)
Meckel syndrome 5, 611561 (3)
SALL1 Townes-Brocks branchiootorenal-like syndrome, 107480 (3)
Townes-Brocks syndrome 1, 107480 (3)
SCNN1B Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)
Liddle syndrome 1, 177200 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SEPT12 Spermatogenic failure 10, 614822 (3)
SLC12A3 Gitelman syndrome, 263800 (3)
SLC38A8 Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
SLC6A2 ?Orthostatic intolerance, 604715 (3)
SLX4 Fanconi anemia, complementation group P, 613951 (3)
SRCAP Floating-Harbor syndrome, 136140 (3)
SSTR5 Somatostatin analog, resistance to (3)
STUB1 ?Spinocerebellar ataxia 48, 618093 (3)
Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
TAT Tyrosinemia, type II, 276600 (3)
TELO2 You-Hoover-Fong syndrome, 616954 (3)
TNRC6A ?Epilepsy, familial adult myoclonic, 6, 618074 (3)
UMOD Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3)
Hyperuricemic nephropathy, familial juvenile 1, 162000 (3)
Medullary cystic kidney disease 2, 603860 (3)
UQCRC2 Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
VAC14 Striatonigral degeneration, childhood-onset, 617054 (3)
VKORC1 Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)
Warfarin resistance, 122700 (3)
VPS35 {Parkinson disease 17}, 614203 (3)
WWOX Epileptic encephalopathy, early infantile, 28, 616211 (3)
Esophageal squamous cell carcinoma, somatic, 133239 (3)
Spinocerebellar ataxia, autosomal recessive 12, 614322 (3)
XYLT1 Desbuquois dysplasia 2, 615777 (3)
{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
ZFHX3 Prostate cancer, somatic, 176807 (3)
ZNF423 Joubert syndrome 19, 614844 (3)
Nephronophthisis 14, 614844 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)
ZP2 Oocyte maturation defect 6, 618353 (3)

Genes at Clinical Genomics Database

AARS, ABAT, ABCA3, ABCC6, ACD, ACSF3, ADAMTS18, ALG1, ANKRD11, ARMC5, ATP2A1, AXIN1, BBS2, BCKDK, CA5A, CD19, CDH1, CDH15, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COQ7, CORO1A, CRYM, CYBA, CYLD, DHODH, DNAAF1, DNASE1, EARS2, EMP2, FA2H, FANCA, FOXC2, FOXF1, FUS, GALNS, GAS8, GCSH, GLIS2, GRIN2A, HSD3B7, IFT140, IGFALS, IRF8, JPH3, KATNB1, KIAA0556, KIF22, LITAF, LMF1, MC1R, MEFV, MMP2, MVD, MYH11, NDE1, NOD2, PIEZO1, PKD1, PLCG2, PRRT2, RPGRIP1L, SALL1, SCNN1B, SEPT12, SLC12A3, SLC38A8, SLC6A2, SLX4, SPG7, SRCAP, SSTR5, STUB1, TAT, UMOD, UQCRC2, VKORC1, VPS35, WWOX, XYLT1, ZNF423, ZNF469,
AARS Charcot-Marie-Tooth disease, axonal, type 2N
Epileptic encephalopathy, early infantile, 29
ABAT GABA-transaminase deficiency
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3
Interstitial lung disease
ABCC6 Pseudoxanthoma elasticum
ACD Dyskeratosis congenita, autosomal dominant 6
Dyskeratosis congenita, autosomal recessive 7
ACSF3 Combined malonic and methylmalonic aciduria
ADAMTS18 Knobloch syndrome 2
Microcornea, myopic chorioretinal atrophy, and telecanthus
Retinal dystrophy, early onset, autosomal recessive
ALG1 Congenital disorder of glycosylation, type Ik
ANKRD11 KBG syndrome
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2
ATP2A1 Brody myopathy
AXIN1 Caudal duplication anomaly
BBS2 Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
BCKDK Branched-chain ketoacid dehydrogenase kinase deficiency
CA5A Carbonic anhydrase VA deficiency
CD19 Immunodeficiency, common variable 3
CDH1 CDH1-related cancer
CDH15 Mental retardation, autosomal dominant 3
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy
Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
CDT1 Meier-Gorlin syndrome 4
CES1 Carboxylesterase 1 deficiency
CETP Hyperalphalipoproteinemia 1
CIITA Bare lymphocyte syndrome, type II
CLCN7 Osteopetrosis, autosomal dominant 2
Osteopetrosis, autosomal recessive 4
CNGB1 Retinitis pigmentosa 45
COG4 Congenital disorder of glycosylation, type IIj
COQ7 Coenzyme Q10 deficiency, primary 8
CORO1A Immunodeficiency 8
CRYM Deafness, autosomal dominant 40
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
CYLD Spiegler-Brooke syndrome
Trichoepithelioma, multiple familial, 1
Cylindromatosis, familial
DHODH Postaxial acrofacial dysostosis (Miller syndrome)
DNAAF1 Ciliary dyskinesia, primary, 13
DNASE1 Macular dystrophy, North Carolina type
EARS2 Combined oxidative phosphorylation deficiency 12
EMP2 Nephrotic syndrome, type 10
FA2H Spastic paraplegia 35, autosomal recessive
FANCA Fanconi anemia, complementation group A
FOXC2 Lymphedema-distichiasis syndrome
FOXF1 Alveolar capillary dysplasia with misalignment of pulmonary veins
FUS Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
Essential tremor
GALNS Mucopolysaccharidosis IVA (Morquio syndrome A)
GAS8 Ciliary dyskinesia, primary, 33
GCSH Glycine encephalopathy
GLIS2 Nephronophthisis 7
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation
HSD3B7 Bile acid synthesis defect, congenital, 1
IFT140 Short-rib thoracic dysplasia 9 with or without polydactyly
IGFALS Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of
IRF8 Immunodeficiency 32A (CD11C-positive/CD1C-positive dendritic cell deficiency)
Immunodeficiency 32B (monocyte and dendritic cell deficiency)
JPH3 Huntington disease-like 2
KATNB1 Lissencephaly 6, with microcephaly
KIAA0556 Joubert syndrome 26
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
LITAF Charcot-Marie-Tooth disease, type 1C
LMF1 Combined lipase deficiency
MC1R Increased analgesia from kappa-opioid receptor agonist, female specific
MEFV Familial Mediterranean fever
MMP2 Torg-Winchester syndrome
Multicentric osteolysis, nodulosis, and arthropathy
MVD Porokeratosis 7
MYH11 Aortic aneurysm, familial thoracic 4
NDE1 Lissencephaly 4
Microhydranencephaly
NOD2 Blau syndrome
Sarcoidosis, early-onset
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PKD1 Polycystic kidney disease, adult type I
PLCG2 Familial cold autoinflammatory syndrome 3 (PLAID)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
PRRT2 Episodic kinesigenic dyskinesia 1
RPGRIP1L Meckel syndrome 5
Joubert syndrome 7
COACH syndrome
Retinal degeneration in ciliopathy, modifier of
SALL1 Townes-Brocks syndrome
SCNN1B Pseudohypoaldosteronism, type I
Liddle syndrome
Bronchiectasis with or without elevated sweat chloride 3
SEPT12 Spermatogenic failure 10
SLC12A3 Gitelman syndrome
SLC38A8 Foveal hypoplasia 2
SLC6A2 Orthostatic intolerance
SLX4 Fanconi anemia type P
SPG7 Spastic paraplegia 7, autosomal recessive
SRCAP Floating-Harbor syndrome
SSTR5 Resistance to somatostatin treatment
STUB1 Spinocerebellar ataxia, autosomal recessive 16
TAT Tyrosinemia, type II
UMOD Familial juvenile hyperuricemic nephropathy
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
UQCRC2 Mitochondrial Complex III Deficiency, nuclear type 5
VKORC1 Vitamin K-dependent clotting factors, combined deficiency of, 2
Drug metabolism, VKORC1-related
VPS35 Parkinson disease 17
WWOX Epileptic encephalopathy, early infantile, 28
Spinocerebellar ataxia, autosomal recessive 12
XYLT1 Desbuquois dysplasia 2
ZNF423 Joubert syndrome 19
Nephronophthisis 14
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 4016
Number of Genes: 446

Export to: CSV

AARS

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs4081753
dbSNP Clinvar
70287177 9939.35 A G . 1/1 102 None None None 0.88119 0.88120 0.15082 None None None None None None AARS|0.341353977|24.74%

ABAT

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs77696190
dbSNP Clinvar
8829651 6077.94 C T . 0/1 159 None None None 0.00359 0.00359 0.00377 0.03 0.00 3.26 None None None None None None ABAT|0.163825558|41.04%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs1731017
dbSNP Clinvar
8839954 6455.9 A G . 0/1 134 None None None 0.50080 0.50080 0.48599 0.61 0.00 -0.44 None None None None None None ABAT|0.163825558|41.04%

ABCA3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs13332514
dbSNP Clinvar
2367336 7958.94 G A . 0/1 206 None None None 0.19269 0.19270 0.09465 None None None None None None ABCA3|0.043607901|64.64%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs374605569
dbSNP Clinvar
2338133 6836.9 G A . 0/1 258 None None None 0.00008 None None None None None None ABCA3|0.043607901|64.64%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs149532
dbSNP Clinvar
2331430 19331.3 A G . 1/1 184 None None None 0.90096 0.90100 0.13058 None None None None None None ABCA3|0.043607901|64.64%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs323043
dbSNP Clinvar
2348528 4572.9 G C . 0/1 211 None None None 0.08167 0.08167 0.15628 None None None None None None ABCA3|0.043607901|64.64%

ABCC1

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs35587
dbSNP Clinvar
16139714 10901.9 T C . 0/1 157 None None None 0.42292 0.42290 0.39846 None None None None None None ABCC1|0.091540799|52.94%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs246221
dbSNP Clinvar
16138322 10902.9 T C . 0/1 164 None None None 0.42472 0.42470 0.40045 None None None None None None ABCC1|0.091540799|52.94%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs35605
dbSNP Clinvar
16162019 20051.3 T C . 1/1 214 None None None 0.78654 0.78650 0.15359 None None None None None None ABCC1|0.091540799|52.94%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs34526519
dbSNP Clinvar
16230427 5277.9 C T . 0/1 247 None None None 0.00559 0.00559 0.00571 None None None None None None ABCC1|0.091540799|52.94%

ABCC12

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs8057474
dbSNP Clinvar
48138272 4046.9 T A . 0/1 184 None None None 0.02696 0.02696 0.02623 0.03 0.62 2.78 None None None None None None ABCC12|0.070949421|57.23%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs16945786
dbSNP Clinvar
48120697 3004.9 A G . 0/1 80 None None None 0.08746 0.08746 0.08776 None None None None None None ABCC12|0.070949421|57.23%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs16945787
dbSNP Clinvar
48121900 9462.94 T G . 0/1 212 None None None 0.01697 0.01697 0.01900 0.22 0.06 2.06 None None None None None None ABCC12|0.070949421|57.23%

ABCC6

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2856585
dbSNP Clinvar
16263663 9579.94 G A . 0/1 209 None None None 0.12400 0.12400 0.07829 None None None None None None ABCC6|0.022547171|72.9%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs59593133
dbSNP Clinvar
16276292 16505.9 T C . 1/1 170 None None None 0.02296 0.02296 0.02609 0.43 0.00 -1.17 None None None None None None ABCC6|0.022547171|72.9%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs9930886
dbSNP Clinvar
16291983 6882.9 A G . 0/1 173 None None None 0.28275 0.28270 0.31330 None None None None None None ABCC6|0.022547171|72.9%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs7500834
dbSNP Clinvar
16272670 23117.3 T C . 1/1 224 None None None 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs58073789
dbSNP Clinvar
16276345 9498.94 C T . 0/1 177 None None None 0.01458 0.01458 0.01785 0.32 0.04 -0.31 None None None None None None ABCC6|0.022547171|72.9%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs58694313
dbSNP Clinvar
16251531 9671.94 C T . 0/1 214 None None None 0.03315 0.03315 0.03001 0.01 0.01 4.04 None None None None None None ABCC6|0.022547171|72.9%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs9940825
dbSNP Clinvar
16291971 6784.9 C T . 0/1 165 None None None 0.23223 0.23220 0.30603 None None None None None None ABCC6|0.022547171|72.9%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs60707953
dbSNP Clinvar
16259497 4545.9 G T . 0/1 175 None None None 0.00759 0.00759 0.00777 0.32 0.57 0.62 None None None None None None ABCC6|0.022547171|72.9%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs12931472
dbSNP Clinvar
16281007 4054.94 A G . 0/1 96 None None None 0.33946 0.33950 0.46398 0.77 0.00 -0.74 None None None None None None ABCC6|0.022547171|72.9%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs59757815
dbSNP Clinvar
16276341 18389.9 T A . 1/1 175 None None None 0.02296 0.02296 0.02609 None None None None None None ABCC6|0.022547171|72.9%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs6416668
dbSNP Clinvar
16271357 18524.3 T C . 1/1 188 None None None 0.96426 0.96430 0.03556 0.29 0.00 -1.41 None None None None None None ABCC6|0.022547171|72.9%

AC004381.6

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs9929443
dbSNP Clinvar
20855309 9709.35 A G . 1/1 93 None None None 0.82428 0.82430 0.16751 None None None None None None ERI2|0.119712352|47.5%

AC135048.1

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs12443627
dbSNP Clinvar
30996872 17377.9 G C . 0/1 275 None None None 0.50200 0.50200 0.00 None None None None None None HSD3B7|0.090377296|53.14%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs12443808
dbSNP Clinvar
30996871 17327.9 C G . 0/1 269 None None None 0.40316 0.40320 None None None None None None HSD3B7|0.090377296|53.14%

ACD

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs6979
dbSNP Clinvar
67691668 19456.9 A G . 1/1 217 None None None 0.57149 0.57150 0.37719 1.00 0.00 0.62 None None None None None None ACD|0.009649667|81.12%

ACSF3

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs7201122
dbSNP Clinvar
89167140 27665.3 G C . 1/1 280 None None None 0.84924 0.84920 0.08482 None None None None None None ACSF3|0.012049699|79.2%

ACSM1

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs61745764
dbSNP Clinvar
20681229 7690.94 T A . 0/1 199 None None None 0.03415 0.03415 0.03976 1.00 0.00 -2.40 None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs151328
dbSNP Clinvar
20648702 9719.33 G A . 1/1 113 None None None 0.34685 0.34680 0.30019 -0.20 None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs1692729
dbSNP Clinvar
20638576 19088.3 A T . 1/1 210 None None None 0.60583 0.60580 0.46293 -0.27 None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%

ACSM2A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs1700805
dbSNP Clinvar
20488696 11923.3 A G . 1/1 117 None None None 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs9924150
dbSNP Clinvar
20492000 6995.35 A G . 1/1 59 None None None 0.82628 0.82630 1.00 0.00 0.27 None None None None None None ACSM2A|0.005190474|85.6%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs7187246
dbSNP Clinvar
20476852 35286.3 T C . 1/1 393 None None None 0.50559 0.50560 0.38667 1.00 0.00 -1.81 None None None None None None ACSM2A|0.005190474|85.6%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs199574085
dbSNP Clinvar
20492231 11597.9 C T . 0/1 262 None None None 0.00040 0.00040 None None None None None None ACSM2A|0.005190474|85.6%

ACSM2B

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs16970280
dbSNP Clinvar
20552075 14931.9 G T . 0/1 286 None None None 0.70607 0.70610 0.18525 None None None None None None ACSM2B|0.005001118|85.81%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs8056693
dbSNP Clinvar
20570661 15922.9 T C . 0/1 400 None None None 0.95347 0.95350 1.00 0.00 -1.35 None None None None None None ACSM2B|0.005001118|85.81%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs80135299
dbSNP Clinvar
20559777 7512.94 T C . 0/1 212 None None None 0.03634 0.03634 0.03332 0.13 0.07 -1.23 None None None None None None ACSM2B|0.005001118|85.81%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs9941182
dbSNP Clinvar
20554582 7305.33 T G . 1/1 84 None None None 1.00 0.00 -1.70 None None None None None None ACSM2B|0.005001118|85.81%

ACSM5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs8063682
dbSNP Clinvar
20441084 23056.3 T C . 1/1 258 None None None 0.54253 0.54250 0.43532 None None None None None None ACSM5|0.017561285|75.57%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs9928053
dbSNP Clinvar
20423000 14035.9 G A . 0/1 230 None None None 0.07967 0.07967 0.07227 1.00 0.00 1.61 None None None None None None ACSM5|0.017561285|75.57%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs8062344
dbSNP Clinvar
20441053 24729.3 C G . 1/1 265 None None None 0.43910 0.43910 0.40135 0.00 0.96 5.14 None None None None None None ACSM5|0.017561285|75.57%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs12103211
dbSNP Clinvar
20435262 18220.9 T G . 0/1 315 None None None 0.15276 0.15280 0.15001 None None None None None None ACSM5|0.017561285|75.57%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs59025904
dbSNP Clinvar
20432605 10975.9 A G . 0/1 226 None None None 0.13658 0.13660 0.13225 1.00 0.00 -2.86 None None None None None None ACSM5|0.017561285|75.57%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs7192210
dbSNP Clinvar
20430678 13406.9 G A . 0/1 217 None None None 0.09884 0.09884 0.09042 0.44 0.01 2.31 None None None None None None ACSM5|0.017561285|75.57%

ADAD2

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2303238
dbSNP Clinvar
84229559 35509.4 T C . 1/1 303 None None None 0.80531 0.80530 0.16659 None None None None None None ADAD2|0.00601312|84.58%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs11149631
dbSNP Clinvar
84228770 23188.9 G C . 0/1 400 None None None 0.27616 0.27620 0.33834 0.07 0.26 3.85 None None None None None None ADAD2|0.00601312|84.58%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs8044695
dbSNP Clinvar
84224967 21755.9 G A . 0/1 372 None None None 0.00120 0.68590 0.24959 1.00 0.00 -1.90 None None None None None None ADAD2|0.00601312|84.58%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2303243
dbSNP Clinvar
84230500 14668.9 A C . 0/1 262 None None None 0.32109 0.32110 0.36734 None None None None None None ADAD2|0.00601312|84.58%

ADAMTS18

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs9930984
dbSNP Clinvar
77353973 7219.9 G T . 0/1 193 None None None 0.63498 0.63500 0.48561 0.12 0.00 -0.14 None None None None None None ADAMTS18|0.112557021|48.75%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs8059275
dbSNP Clinvar
77389956 14660.9 A G . 0/1 228 None None None 0.88219 0.88220 0.12527 None None None None None None ADAMTS18|0.112557021|48.75%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs35478105
dbSNP Clinvar
77325325 19817.3 G T . 1/1 221 None None None 0.22784 0.22780 0.36819 0.03 0.13 3.63 None None None None None None ADAMTS18|0.112557021|48.75%

ADAT1

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs3743598
dbSNP Clinvar
75646685 14340.9 G T . 0/1 308 None None None 0.57049 0.57050 0.36450 0.71 0.00 -0.79 None None None None None None ADAT1|0.07647983|55.99%

ADCY7

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs8051594
dbSNP Clinvar
50326661 23094.3 A G . 1/1 231 None None None 0.99441 0.99440 0.00639 None None None None None None ADCY7|0.080648112|55.03%

ADCY9

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2230742
dbSNP Clinvar
4016676 25699.9 A G . 0/1 350 None None None 0.73063 0.73060 0.19871 None None None None None None ADCY9|0.187231083|38.15%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2240735
dbSNP Clinvar
4027605 14082.9 C T . 0/1 259 None None None 0.46845 0.46850 0.42151 None None None None None None ADCY9|0.187231083|38.15%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2530898
dbSNP Clinvar
4165432 25885.3 T C . 1/1 261 None None None 0.99980 0.99980 None None None None None None ADCY9|0.187231083|38.15%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2230739
dbSNP Clinvar
4033436 6859.94 T C . 0/1 141 None None None 0.26038 0.26040 0.25681 0.30 0.00 -1.75 None None None None None None ADCY9|0.187231083|38.15%

AHSP

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs17677
dbSNP Clinvar
31539934 7377.9 G T . 0/1 198 None None None 0.31749 0.31750 0.24604 None None None None None None AHSP|0.009422794|81.36%

ALG1

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs112683515
dbSNP Clinvar
5122072 11843.9 G GGTCT . 0/1 375 None None None 0.58347 0.58350 0.48735 None None None None None None ALG1|0.0336465|67.9%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs1047732
dbSNP Clinvar
5132636 7066.9 C T . 0/1 298 None None None 0.51977 0.51980 0.46937 None None None None None None ALG1|0.0336465|67.9%

ANKRD11

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs202081612
dbSNP Clinvar
89346205 18766.9 G A . 0/1 459 None None None 0.00120 0.00120 0.00092 0.18 0.00 2.15 None None None None None None ANKRD11|0.017604248|75.55%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2279349
dbSNP Clinvar
89350178 66761.4 G A . 1/1 608 None None None 0.76358 0.76360 0.14782 None None None None None None ANKRD11|0.017604248|75.55%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2279348
dbSNP Clinvar
89350038 62488.4 G A . 1/1 571 None None None 0.53355 0.53350 0.30299 0.14 0.00 0.08 None None None None None None ANKRD11|0.017604248|75.55%

ANKS4B

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs759603798
dbSNP Clinvar
21261877 16094.9 G A . 0/1 359 None None None None None None None None None ANKS4B|0.081800274|54.79%,CRYM|0.245016591|32%

AP1G1

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs904763
dbSNP Clinvar
71773190 6986.92 G T . 0/1 173 None None None 0.24082 0.24080 0.17428 0.04 0.14 3.04 None None None None None None AP1G1|0.673746554|9.26%

APOBR

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs151233
dbSNP Clinvar
28506428 24246.3 C T . 1/1 250 None None None 0.15575 0.15580 0.12773 None None None None None None CLN3|0.080923796|55%,APOBR|0.000791084|96.71%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs40832
dbSNP Clinvar
28508716 46932.4 T C . 1/1 451 None None None 0.98702 0.98700 0.01757 1.00 0.00 -1.72 None None None None None None APOBR|0.000791084|96.71%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs139349374
dbSNP Clinvar
28508906 12855.9 C A . 0/1 487 None None None 0.00120 0.00120 0.00049 None None None None None None APOBR|0.000791084|96.71%

AQP8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2287798
dbSNP Clinvar
25239805 3405.9 G C . 0/1 151 None None None 0.41414 0.41410 0.38579 0.04 0.04 -0.14 None None None None None None AQP8|0.020032864|74.17%

ARHGDIG

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 . 332655 13655.9 C A . 0/1 297 None None None 1.00 0.00 -2.47 0.00 0.09917 T None None None None ARHGDIG|0.014045307|77.85%

ARMC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs11863886
dbSNP Clinvar
31477460 9406.9 G A . 0/1 327 None None None 0.10124 0.10120 0.05555 None None None None None None ARMC5|0.038585217|66.26%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs11150624
dbSNP Clinvar
31476458 15777.9 C T . 0/1 249 None None None 0.30411 0.30410 0.31951 0.01 -0.22 None None None None None None ARMC5|0.038585217|66.26%

ASPHD1

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs140411458,rs35784618
dbSNP Clinvar
29912802 18210.9 G GGGT . 0/1 317 None None None 0.20228 0.20230 0.35699 None None None None None None ASPHD1|0.262036934|30.55%

ATF7IP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs146194908
dbSNP Clinvar
10574767 1918.9 G A . 0/1 76 None None None 0.00120 0.00120 0.00192 0.10 0.00 0.08256 T None None None None ATF7IP2|0.022985481|72.74%

ATMIN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2257378
dbSNP Clinvar
81077915 17496.9 T C . 0/1 270 None None None 0.70268 0.70270 0.25615 None None None None None None ATMIN|0.091182052|53%

ATP2A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs143777158
dbSNP Clinvar
28898954 6600.9 A G . 0/1 225 None None None 0.00439 0.00439 0.00346 0.46 0.01 2.49 None None None None None None ATP2A1|0.341919213|24.7%

ATP2C2

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs247818
dbSNP Clinvar
84444349 12954.3 A C . 1/1 121 None None None 0.99621 0.99620 0.00215 1.00 0.00 0.68 None None None None None None ATP2C2|0.028466008|70.21%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs2303853
dbSNP Clinvar
84474484 2902.9 G A . 0/1 102 None None None 0.04073 0.04073 0.05338 0.27 0.04 3.24 None None None None None None ATP2C2|0.028466008|70.21%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs4782948
dbSNP Clinvar
84432176 8562.9 G A . 0/1 147 None None None 0.01318 0.01318 0.02765 None None None None None None ATP2C2|0.028466008|70.21%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs62048787
dbSNP Clinvar
84402275 3665.9 G C . 0/1 68 None None None 0.41773 0.41770 0.25903 None None None None None None ATP2C2|0.028466008|70.21%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs410388
dbSNP Clinvar
84493144 17177.3 C G . 1/1 164 None None None 0.99840 0.99840 0.59 0.00 0.17 None None None None None None ATP2C2|0.028466008|70.21%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs62640926
dbSNP Clinvar
84485677 7623.9 T A . 0/1 243 None None None 0.02915 0.02915 0.05521 0.45 0.04 3.51 None None None None None None ATP2C2|0.028466008|70.21%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs247885
dbSNP Clinvar
84485573 24505.3 C A . 1/1 231 None None None 0.99820 0.99820 0.00180 None None None None None None ATP2C2|0.028466008|70.21%

ATXN2L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs4344749
dbSNP Clinvar
28842311 13632.3 A G . 1/1 141 None None None 0.99780 0.99780 0.00239 None None None None None None ATXN2L|0.330957968|25.43%

AXIN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs214252
dbSNP Clinvar
347184 8377.9 A G . 0/1 259 None None None 0.20927 0.20930 0.28095 None None None None None None AXIN1|0.853904353|4.55%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs214250
dbSNP Clinvar
348222 12260.9 C T . 0/1 321 None None None 0.21026 0.21030 0.24871 None None None None None None AXIN1|0.853904353|4.55%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs1805105
dbSNP Clinvar
396264 8831.9 A G . 0/1 254 None None None 0.63898 0.63900 0.28587 None None None None None None AXIN1|0.853904353|4.55%

BAIAP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs1132356
dbSNP Clinvar
1394507 23554.3 A C . 1/1 226 None None None 0.95108 0.95110 0.07901 0.92 0.00 -0.78 None None None None None None BAIAP3|0.02462485|71.97%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs1132358
dbSNP Clinvar
1397815 13726.9 C T . 0/1 351 None None None 0.33766 0.33770 0.36976 None None None None None None BAIAP3|0.02462485|71.97%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs7202563
dbSNP Clinvar
1389153 28822.3 C A . 1/1 276 None None None 0.95627 0.95630 0.06378 0.49 0.04 0.09 None None None None None None BAIAP3|0.02462485|71.97%

BANP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs74992447
dbSNP Clinvar
88066717 4615.9 C T . 0/1 191 None None None 0.18431 0.18430 0.12211 0.76 0.00 -0.13 None None None None None None BANP|0.091573443|52.92%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs8050209
dbSNP Clinvar
88105725 22405.3 G A . 1/1 222 None None None 0.45487 0.45490 0.45611 None None None None None None BANP|0.091573443|52.92%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs7499814
dbSNP Clinvar
88052161 21653.3 C A . 1/1 226 None None None 0.58047 0.58050 0.32674 None None None None None None BANP|0.091573443|52.92%

BBS2

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs4784677
dbSNP Clinvar
56548501 21952.3 C T . 1/1 232 None None None 0.99641 0.99640 0.00554 1.00 0.00 1.36 None None rs4784677 -5 Bardet-Biedl_syndrome_2 None BBS2|0.509758209|15.38%

BCAR1

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs1035539
dbSNP Clinvar
75276775 7405.9 G A . 0/1 235 None None None 0.59385 0.59380 0.42286 0.39 0.00 -0.83 None None None None None None BCAR1|0.161589333|41.34%
View 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs3169330
dbSNP Clinvar
75269267 38626.4 A G . 1/1 388 None None None 0.92632 0.92630 0.15451 None None None None None None BCAR1|0.161589333|41.34%

BCKDK

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 17-11096s1 germline-multisample gatk annotated 17-11099s1 16 rs14235
dbSNP Clinvar
31121793 10368.9 G A . 0/1 172 None None None 0.35923 0.35920 0.30291 None None None None None None BCKDK|0.213682179|35.16%