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Genes:
AARS, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, AC004381.6, ACD, ACSF3, ACSM2A, ACSM2B, ADAD2, ADAMTS18, ADCY7, ADCY9, ALG1, ANKRD11, ANKS3, APOBR, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATXN1L, ATXN2L, AXIN1, BAIAP3, BANP, BBS2, BCAR1, BCMO1, BFAR, BRICD5, C16orf3, C16orf46, C16orf62, C16orf71, C16orf89, C16orf91, C16orf93, C16orf95, CACNA1H, CAPN15, CAPNS2, CARHSP1, CASKIN1, CBLN1, CCDC101, CCDC102A, CCDC135, CCDC154, CCDC78, CCDC79, CCL22, CCP110, CD19, CD2BP2, CDH11, CDH13, CDH3, CDH5, CDIP1, CDT1, CDYL2, CENPBD1, CENPN, CES1, CES5A, CETP, CFDP1, CHD9, CHTF18, CIITA, CIRH1A, CLCN7, CLEC16A, CLUAP1, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COQ7, CORO1A, CORO7-PAM16, COX4I1, COX6A2, CPNE2, CPPED1, CRAMP1L, CREBBP, CRISPLD2, CRYM, CTD-3088G3.8, CTRB2, CTU2, CYBA, DCUN1D3, DDX19A, DDX28, DECR2, DHODH, DHX38, DNAAF1, DNAH3, DNAJA3, DNASE1, DOC2A, DPEP2, E4F1, EARS2, ECI1, EDC4, EEF2K, ELMO3, EME2, EMP2, ERI2, ERN2, EXOC3L1, FA2H, FAM173A, FAM57B, FAM86A, FANCA, FBXL16, FBXL19, FLYWCH1, FUK, FUS, GAN, GAS8, GCSH, GDPD3, GGA2, GLG1, GLIS2, GLYR1, GNAO1, GOT2, GP2, GPR139, GPR56, GRIN2A, GSE1, GSG1L, GSPT1, HAGH, HAGHL, HP, HPR, HS3ST4, HS3ST6, HSD17B2, HYDIN, IFT140, IGFALS, IGHV3OR16-13, IL32, IL4R, IRX3, IRX5, ITGAD, ITGAL, ITGAM, JPH3, KARS, KAT8, KATNB1, KCNG4, KDM8, KIAA0430, KIAA0556, KIF22, KIFC3, KLHL36, KREMEN2, LA16c-431H6.6, LAT, LCMT1, LITAF, LMF1, LPCAT2, LRRC36, MAP1LC3B, MAPK8IP3, MARVELD3, MBTPS1, MEFV, MEIOB, METTL22, MGRN1, MKL2, MLKL, MLST8, MMP2, MON1B, MPHOSPH6, MRPL28, MSLN, MSLNL, MT1A, MT1M, MT4, MTHFSD, MVD, MYH11, MYLK3, NAA60, NAE1, NAGPA, NARFL, NDRG4, NLRC3, NLRC5, NME3, NME4, NOB1, NOD2, NOMO1, NPIPB11, NPIPB15, NPIPB6, NPRL3, NPW, NQO1, NTAN1, NUBP2, NUDT7, NUP93, NUPR1, OGFOD1, OR2C1, ORAI3, OSGIN1, PABPN1L, PDIA2, PDILT, PDP2, PDPR, PDXDC1, PIEZO1, PIGQ, PKD1L2, PLA2G15, PLCG2, POLR2C, POLR3E, POLR3K, PPL, PRKCB, PRM1, PRM2, PRM3, PRMT7, PRR14, PRR25, PRRT2, PRSS21, PRSS36, PRSS53, PSMB10, QPRT, RAB11FIP3, RAB26, RAB40C, RBBP6, RBL2, RFWD3, RGS11, RHBDF1, RHOT2, RMI2, RNF40, RNPS1, RP11-105C20.2, RP11-166B2.1, RP11-231C14.4, RP11-276H1.3, RP11-368I7.4, RP11-830F9.6, RPL13, RPL3L, RPS2, RPUSD1, RSL1D1, SALL1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPT1, SEPT12, SETD6, SEZ6L2, SF3B3, SHCBP1, SHISA9, SLC12A3, SLC12A4, SLC22A31, SLC38A8, SLC5A11, SLC6A2, SLC7A6OS, SLC9A3R2, SLX4, SMG1, SMIM22, SMPD3, SNN, SNX29, SOX8, SPATA2L, SPATA33, SPG7, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, STUB1, STX1B, SULT1A1, SULT1A2, SYCE1L, TAF1C, TAOK2, TBC1D10B, TBX6, TCEB2, TEKT5, TELO2, TEPP, TERF2IP, TFAP4, THUMPD1, TLDC1, TMEM159, TMEM8A, TNFRSF17, TNP2, TNRC6A, TP53TG3D, TPSAB1, TPSD1, TPSG1, TRAP1, TUBB3, TUBB8P7, TXNDC11, UBE2I, UBN1, UMOD, UNKL, USP10, USP31, USP7, VAC14, VASN, VAT1L, VPS35, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFDC1, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, ZC3H18, ZC3H7A, ZCCHC14, ZDHHC7, ZFHX3, ZFP90, ZFPM1, ZG16, ZKSCAN2, ZNF174, ZNF19, ZNF205, ZNF23, ZNF267, ZNF276, ZNF319, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF646, ZNF668, ZNF720, ZNF768, ZNF778, ZP2, ZSCAN32,

Genes at Omim

AARS, ABCA3, ABCC11, ABCC6, ACD, ACSF3, ADAMTS18, ALG1, ANKRD11, ARMC5, ATP2A1, AXIN1, BBS2, CACNA1H, CCDC78, CD19, CDH11, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COQ7, CORO1A, CREBBP, CRYM, CTU2, CYBA, DHODH, DHX38, DNAAF1, DNASE1, EARS2, EMP2, FA2H, FANCA, FUS, GAN, GAS8, GCSH, GLIS2, GNAO1, GRIN2A, HAGH, HP, HYDIN, IFT140, IGFALS, IL4R, IRX5, JPH3, KARS, KATNB1, KIF22, LAT, LITAF, LMF1, MEFV, MEIOB, MMP2, MVD, MYH11, NOD2, NPRL3, NQO1, NUP93, PIEZO1, PLCG2, PRMT7, PRRT2, RFWD3, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC38A8, SLC6A2, SLX4, SRCAP, SSTR5, STUB1, STX1B, TBX6, TELO2, TNRC6A, TUBB3, UMOD, VAC14, VPS35, WWOX, XYLT1, ZFHX3, ZNF469, ZP2,
AARS Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)
Epileptic encephalopathy, early infantile, 29, 616339 (3)
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ABCC11 [Axillary odor, variation in], 117800 (3)
[Colostrum secretion, variation in], 117800 (3)
[Earwax, wet/dry], 117800 (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)
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)
CDH11 Elsahy-Waters syndrome, 211380 (3)
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (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)
CREBBP Menke-Hennekam syndrome 1, 618332 (3)
Rubinstein-Taybi syndrome 1, 180849 (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)
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)
FUS Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3)
Essential tremor, hereditary, 4, 614782 (3)
GAN Giant axonal neuropathy-1, 256850 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
GCSH ?Glycine encephalopathy, 605899 (3)
GLIS2 Nephronophthisis 7, 611498 (3)
GNAO1 Epileptic encephalopathy, early infantile, 17, 615473 (3)
Neurodevelopmental disorder with involuntary movements, 617493 (3)
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)
HAGH [Glyoxalase II deficiency], 614033 (1)
HP [Anhaptoglobinemia], 614081 (3)
[Hypohaptoglobinemia], 614081 (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)
IRX5 Hamamy syndrome, 611174 (3)
JPH3 Huntington disease-like 2, 606438 (3)
KARS Deafness, autosomal recessive 89, 613916 (3)
?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3)
KATNB1 Lissencephaly 6, with microcephaly, 616212 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
LAT Immunodeficiency 52, 617514 (3)
LITAF Charcot-Marie-Tooth disease, type 1C, 601098 (3)
LMF1 Lipase deficiency, combined, 246650 (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)
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)
PLCG2 Familial cold autoinflammatory syndrome 3, 614468 (3)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
PRMT7 Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (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)
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)
SCNN1G Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)
Liddle syndrome 2, 618114 (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)
STX1B Generalized epilepsy with febrile seizures plus, type 9, 616172 (3)
TBX6 Spondylocostal dysostosis 5, 122600 (3)
TELO2 You-Hoover-Fong syndrome, 616954 (3)
TNRC6A ?Epilepsy, familial adult myoclonic, 6, 618074 (3)
TUBB3 Fibrosis of extraocular muscles, congenital, 3A, 600638 (3)
Cortical dysplasia, complex, with other brain malformations 1, 614039 (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)
VAC14 Striatonigral degeneration, childhood-onset, 617054 (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)
ZNF469 Brittle cornea syndrome 1, 229200 (3)
ZP2 Oocyte maturation defect 6, 618353 (3)

Genes at Clinical Genomics Database

AARS, ABCA3, ABCC11, ABCC6, ACD, ACSF3, ADAMTS18, ALG1, ANKRD11, ARMC5, ATP2A1, AXIN1, BBS2, CD19, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COQ7, CORO1A, CREBBP, CRYM, CYBA, DHODH, DNAAF1, DNASE1, EARS2, EMP2, FA2H, FANCA, FUS, GAN, GAS8, GCSH, GLIS2, GNAO1, GRIN2A, HP, IFT140, IGFALS, JPH3, KARS, KATNB1, KIAA0556, KIF22, LITAF, LMF1, MEFV, MMP2, MVD, MYH11, NOD2, PIEZO1, PLCG2, PRRT2, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC38A8, SLC6A2, SLX4, SPG7, SRCAP, SSTR5, STUB1, STX1B, TBX6, TRAP1, TUBB3, UMOD, VPS35, WWOX, XYLT1, ZNF469,
AARS Charcot-Marie-Tooth disease, axonal, type 2N
Epileptic encephalopathy, early infantile, 29
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3
Interstitial lung disease
ABCC11 Apocrine gland secretion, variation in
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
CD19 Immunodeficiency, common variable 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
CREBBP Rubinstein-Taybi syndrome
CRYM Deafness, autosomal dominant 40
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
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
FUS Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
Essential tremor
GAN Giant axonal neuropathy 1, autosomal recessive
GAS8 Ciliary dyskinesia, primary, 33
GCSH Glycine encephalopathy
GLIS2 Nephronophthisis 7
GNAO1 Epileptic encephalopathy, early infantile, 17
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation
HP Anhaptoglobinemia
Hypohaptoglobinemia
IFT140 Short-rib thoracic dysplasia 9 with or without polydactyly
IGFALS Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of
JPH3 Huntington disease-like 2
KARS Charcot-Marie-Tooth disease, recessive intermediate B
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
MEFV Familial Mediterranean fever
MMP2 Torg-Winchester syndrome
Multicentric osteolysis, nodulosis, and arthropathy
MVD Porokeratosis 7
MYH11 Aortic aneurysm, familial thoracic 4
NOD2 Blau syndrome
Sarcoidosis, early-onset
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PLCG2 Familial cold autoinflammatory syndrome 3 (PLAID)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
PRRT2 Episodic kinesigenic dyskinesia 1
SALL1 Townes-Brocks syndrome
SCNN1B Pseudohypoaldosteronism, type I
Liddle syndrome
Bronchiectasis with or without elevated sweat chloride 3
SCNN1G 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
STX1B Generalized epilepsy with febrile seizures plus, type 9
TBX6 Spondylocostal dysostosis 5
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
TUBB3 Cortical dysplasia, complex, with other brain malformations 1
Fibrosis of extraocular muscles, congenital, 3A
UMOD Familial juvenile hyperuricemic nephropathy
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
VPS35 Parkinson disease 17
WWOX Epileptic encephalopathy, early infantile, 28
Spinocerebellar ataxia, autosomal recessive 12
XYLT1 Desbuquois dysplasia 2
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 6291
Number of Genes: 404

Export to: CSV

AARS

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 mm200519jpm 16 rs2070203
dbSNP Clinvar
70303580 10279.27 G A PASS 1/1 166 SYNONYMOUS_CODING LOW SILENT 0.42532 0.42530 0.49077 None None None None None None AARS|0.341353977|24.74%
View mm200519jpm 16 rs4081753
dbSNP Clinvar
70287177 21599.28 A G PASS 1/1 229 SYNONYMOUS_CODING LOW SILENT 0.88119 0.88120 0.15082 None None None None None None AARS|0.341353977|24.74%

ABCA3

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 mm200519jpm 16 rs13332514
dbSNP Clinvar
2367336 2007.71 G A PASS 0/1 162 SYNONYMOUS_CODING LOW SILENT 0.19269 0.19270 0.09465 None None None None None None ABCA3|0.043607901|64.64%
View mm200519jpm 16 rs149532
dbSNP Clinvar
2331430 7338.96 A G PASS 1/1 98 SYNONYMOUS_CODING LOW SILENT 0.90096 0.90100 0.13058 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 mm200519jpm 16 rs2230671
dbSNP Clinvar
16228242 5370.07 G A PASS 0/1 150 SYNONYMOUS_CODING LOW SILENT 0.17512 0.17510 0.21715 None None None None None None ABCC1|0.091540799|52.94%
View mm200519jpm 16 rs28364004
dbSNP Clinvar
16184366 1633.71 G T PASS 0/1 110 SYNONYMOUS_CODING LOW SILENT 0.00479 0.00479 0.00376 None None None None None None ABCC1|0.091540799|52.94%
View mm200519jpm 16 rs35605
dbSNP Clinvar
16162019 23900.28 T C PASS 0/1 240 SYNONYMOUS_CODING LOW SILENT 0.78654 0.78650 0.15359 None None None None None None ABCC1|0.091540799|52.94%
View mm200519jpm 16 rs35587
dbSNP Clinvar
16139714 9158.27 T C PASS 0/1 156 SYNONYMOUS_CODING LOW SILENT 0.42292 0.42290 0.39846 None None None None None None ABCC1|0.091540799|52.94%
View mm200519jpm 16 rs246221
dbSNP Clinvar
16138322 4905.27 T C PASS 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.42472 0.42470 0.40045 None None None None None None ABCC1|0.091540799|52.94%

ABCC11

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 mm200519jpm 16 rs16945974
dbSNP Clinvar
48256602 819.96 T C PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.13419 0.13420 0.14700 None None None None None None ABCC11|0.006558104|83.99%
View mm200519jpm 16 rs12443685
dbSNP Clinvar
48226479 3936.96 C T PASS 0/1 177 SYNONYMOUS_CODING LOW SILENT 0.13638 0.13640 0.14821 None None None None None None ABCC11|0.006558104|83.99%
View mm200519jpm 16 rs8047091
dbSNP Clinvar
48248918 1700.05 T C PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.16993 0.16990 0.21051 None None None None None None ABCC11|0.006558104|83.99%
View mm200519jpm 16 rs16945988
dbSNP Clinvar
48265777 1440.96 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11002 0.11000 0.12792 0.00 0.06 None None None None None None ABCC11|0.006558104|83.99%
View mm200519jpm 16 rs11863236
dbSNP Clinvar
48250026 650.96 G T PASS 0/1 41 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.12899 0.12900 0.14359 0.56 0.00 None None None None None None ABCC11|0.006558104|83.99%

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 mm200519jpm 16 rs34135219
dbSNP Clinvar
48145742 656.71 T A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04972 0.04972 0.04146 0.01 0.04 None None None None None None ABCC12|0.070949421|57.23%
View mm200519jpm 16 rs7193955
dbSNP Clinvar
48122582 9812.96 G A PASS 0/1 155 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59125 0.59130 0.40394 0.09 0.01 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 mm200519jpm 16 rs9930886
dbSNP Clinvar
16291983 5777.96 A G PASS 0/1 239 SYNONYMOUS_CODING LOW SILENT 0.28275 0.28270 0.31330 None None None None None None ABCC6|0.022547171|72.9%
View mm200519jpm 16 rs9940825
dbSNP Clinvar
16291971 5771.96 C T PASS 0/1 247 SYNONYMOUS_CODING LOW SILENT 0.23223 0.23220 0.30603 None None None None None None ABCC6|0.022547171|72.9%
View mm200519jpm 16 rs12931472
dbSNP Clinvar
16281007 2788.29 A G PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33946 0.33950 0.46398 0.77 0.00 None None None None None None ABCC6|0.022547171|72.9%
View mm200519jpm 16 rs8058694
dbSNP Clinvar
16278863 7649.26 G T PASS 0|1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33267 0.33270 0.45306 0.59 0.00 None None None None None None ABCC6|0.022547171|72.9%
View mm200519jpm 16 rs8058696
dbSNP Clinvar
16278869 7268.26 G C PASS 0|1 105 SYNONYMOUS_CODING LOW SILENT 0.33267 0.33270 0.45306 None None None None None None ABCC6|0.022547171|72.9%
View mm200519jpm 16 rs6416668
dbSNP Clinvar
16271357 10399.25 T C PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96426 0.96430 0.03556 0.29 0.00 None None None None None None ABCC6|0.022547171|72.9%
View mm200519jpm 16 rs61340537
dbSNP Clinvar
16263662 772.71 G T PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01078 0.01078 0.01168 0.42 0.05 None None None None None None ABCC6|0.022547171|72.9%
View mm200519jpm 16 rs7500834
dbSNP Clinvar
16272670 16660.25 T C PASS 1/1 145 SYNONYMOUS_CODING LOW SILENT 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%
View mm200519jpm 16 rs2238472
dbSNP Clinvar
16251599 2433.07 C T PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18131 0.18130 0.22395 0.18 0.01 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 mm200519jpm 16 rs9929443
dbSNP Clinvar
20855309 8132.28 A G PASS 1/1 79 SYNONYMOUS_CODING LOW SILENT 0.82428 0.82430 0.16751 None None None None None None ERI2|0.119712352|47.5%

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 mm200519jpm 16 rs6979
dbSNP Clinvar
67691668 2477.71 A G PASS 0/1 174 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57149 0.57150 0.37719 1.00 0.00 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 mm200519jpm 16 rs12447947
dbSNP Clinvar
89199651 3426.29 G A PASS 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.14537 0.14540 0.26277 None None None None None None ACSF3|0.012049699|79.2%
View mm200519jpm 16 rs7201122
dbSNP Clinvar
89167140 21416.25 G C PASS 1/1 179 SYNONYMOUS_CODING LOW SILENT 0.84924 0.84920 0.08482 None None None None None None ACSF3|0.012049699|79.2%
View mm200519jpm 16 rs6500527
dbSNP Clinvar
89167431 24067.25 G C PASS 1/1 191 SYNONYMOUS_CODING LOW SILENT 0.61981 0.61980 0.27755 None None None None None None ACSF3|0.012049699|79.2%
View mm200519jpm 16 rs7188200
dbSNP Clinvar
89167094 12596.25 T C PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62440 0.62440 0.27 0.00 None None None None None None ACSF3|0.012049699|79.2%
View mm200519jpm 16 rs7193255
dbSNP Clinvar
89167404 31635.25 T C PASS 1|1 192 SYNONYMOUS_CODING LOW SILENT 0.61981 0.61980 0.27532 None None None None None None ACSF3|0.012049699|79.2%
View mm200519jpm 16 rs3743979
dbSNP Clinvar
89180883 10870.28 G A PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62959 0.62960 0.29186 0.10 0.01 None None None None None None ACSF3|0.012049699|79.2%
View mm200519jpm 16 rs6500528
dbSNP Clinvar
89167443 23065.25 T C PASS 1/1 190 SYNONYMOUS_CODING LOW SILENT 0.61981 0.61980 0.27455 None None None None None None ACSF3|0.012049699|79.2%
View mm200519jpm 16 rs6500526
dbSNP Clinvar
89167395 31098.25 C T PASS 1|1 191 SYNONYMOUS_CODING LOW SILENT 0.61901 0.61900 0.27585 None None None None None None ACSF3|0.012049699|79.2%
View mm200519jpm 16 rs6500529
dbSNP Clinvar
89167458 23634.25 C A PASS 1/1 201 SYNONYMOUS_CODING LOW SILENT 0.61921 0.61920 None None None None None None ACSF3|0.012049699|79.2%

ACSM2A

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 mm200519jpm 16 rs139467011
dbSNP Clinvar
20471442 772.71 T C PASS 0/1 65 SYNONYMOUS_CODING LOW SILENT 0.00160 0.00160 0.00108 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 mm200519jpm 16 rs16970280
dbSNP Clinvar
20552075 12328.28 G T PASS 1/1 134 SYNONYMOUS_CODING LOW SILENT 0.70607 0.70610 0.18525 None None None None None None ACSM2B|0.005001118|85.81%

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 mm200519jpm 16 rs62049905
dbSNP Clinvar
84229436 5165.07 G A PASS 0/1 164 SYNONYMOUS_CODING LOW SILENT 0.31450 0.31450 0.29510 None None None None None None ADAD2|0.00601312|84.58%
View mm200519jpm 16 rs2303238
dbSNP Clinvar
84229559 14371.96 T C PASS 0/1 229 SYNONYMOUS_CODING LOW SILENT 0.80531 0.80530 0.16659 None None None None None None ADAD2|0.00601312|84.58%
View mm200519jpm 16 rs2303239
dbSNP Clinvar
84229580 6078.07 C T PASS 0/1 227 SYNONYMOUS_CODING LOW SILENT 0.29014 0.29010 0.27975 None None None None None None ADAD2|0.00601312|84.58%
View mm200519jpm 16 rs8044695
dbSNP Clinvar
84224967 4085.28 G A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.68590 0.24959 1.00 0.00 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 mm200519jpm 16 rs11643211
dbSNP Clinvar
77401545 3426.96 A G PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36681 0.36680 0.25262 0.41 0.35 None None None None None None ADAMTS18|0.112557021|48.75%
View mm200519jpm 16 rs9930984
dbSNP Clinvar
77353973 2243.96 G T PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63498 0.63500 0.48561 0.12 0.00 None None None None None None ADAMTS18|0.112557021|48.75%
View mm200519jpm 16 rs8059275
dbSNP Clinvar
77389956 8089.25 A G PASS 1/1 70 SYNONYMOUS_CODING LOW SILENT 0.88219 0.88220 0.12527 None None None None None None ADAMTS18|0.112557021|48.75%
View mm200519jpm 16 rs139553755
dbSNP Clinvar
77353778 1279.71 G A PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.00192 0.65 0.02 None None None None None None ADAMTS18|0.112557021|48.75%
View mm200519jpm 16 rs12935394
dbSNP Clinvar
77328990 957.71 C A PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11402 0.11400 0.09388 0.92 0.00 None None None None None None ADAMTS18|0.112557021|48.75%
View mm200519jpm 16 rs11640912
dbSNP Clinvar
77359919 2034.96 A T PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43950 0.43950 0.31887 0.00 0.01 None None None None None None ADAMTS18|0.112557021|48.75%
View mm200519jpm 16 rs12935229
dbSNP Clinvar
77328895 1174.71 C T PASS 0/1 128 SYNONYMOUS_CODING LOW SILENT 0.11462 0.11460 0.09380 None None None None None None ADAMTS18|0.112557021|48.75%
View mm200519jpm 16 rs35296483
dbSNP Clinvar
77327018 1149.71 G A PASS 0/1 98 SYNONYMOUS_CODING LOW SILENT 0.12420 0.12420 0.09449 None None None None None None ADAMTS18|0.112557021|48.75%
View mm200519jpm 16 rs13332812
dbSNP Clinvar
77281905 387.71 C T PASS 0/1 38 None None None 0.04093 0.04093 0.00 None None None None None None ADAMTS18|0.112557021|48.75%

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 mm200519jpm 16 rs17289102
dbSNP Clinvar
50342658 2266.96 C T PASS 0/1 99 SYNONYMOUS_CODING LOW SILENT 0.09784 0.09784 0.19129 None None None None None None ADCY7|0.080648112|55.03%
View mm200519jpm 16 rs8051594
dbSNP Clinvar
50326661 13906.25 A G PASS 1/1 148 SYNONYMOUS_CODING LOW SILENT 0.99441 0.99440 0.00639 None None None None None None ADCY7|0.080648112|55.03%
View mm200519jpm 16 rs13332825
dbSNP Clinvar
50323211 1367.07 T C PASS 0/1 42 None None None 0.14916 0.14920 0.06 0.00 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 mm200519jpm 16 rs2530898
dbSNP Clinvar
4165432 1654.12 T C PASS 1/1 22 SYNONYMOUS_CODING LOW SILENT 0.99980 0.99980 None None None None None None ADCY9|0.187231083|38.15%
View mm200519jpm 16 rs2230738
dbSNP Clinvar
4164364 4674.96 C T PASS 0/1 186 SYNONYMOUS_CODING LOW SILENT 0.32428 0.32430 0.18732 None None None None None None ADCY9|0.187231083|38.15%
View mm200519jpm 16 rs2230739
dbSNP Clinvar
4033436 5009.28 T C PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26038 0.26040 0.25681 0.30 0.00 None None None None None None ADCY9|0.187231083|38.15%
View mm200519jpm 16 rs2240735
dbSNP Clinvar
4027605 12671.96 C T PASS 0/1 160 SYNONYMOUS_CODING LOW SILENT 0.46845 0.46850 0.42151 None None None None None None ADCY9|0.187231083|38.15%
View mm200519jpm 16 rs2230742
dbSNP Clinvar
4016676 24600.25 A G PASS 1/1 214 SYNONYMOUS_CODING LOW SILENT 0.73063 0.73060 0.19871 None None None None None None ADCY9|0.187231083|38.15%

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 mm200519jpm 16 rs112683515
dbSNP Clinvar
5122072 4425.32 G GGTCT PASS 0/1 76 None None None 0.58347 0.58350 0.48735 None None None None None None ALG1|0.0336465|67.9%
View mm200519jpm 16 rs1047732
dbSNP Clinvar
5132636 745.28 C T PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT 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 mm200519jpm 16 rs2279348
dbSNP Clinvar
89350038 25013.96 G A PASS 0/1 314 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53355 0.53350 0.30299 0.14 0.00 None None None None None None ANKRD11|0.017604248|75.55%
View mm200519jpm 16 rs2279349
dbSNP Clinvar
89350178 11069.96 G A PASS 0/1 135 SYNONYMOUS_CODING LOW SILENT 0.76358 0.76360 0.14782 None None None None None None ANKRD11|0.017604248|75.55%

ANKS3

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 mm200519jpm 16 rs841210
dbSNP Clinvar
4752134 3398.07 A G PASS 0/1 109 SYNONYMOUS_CODING LOW SILENT 0.52995 0.53000 0.44559 None None None None None None ANKS3|0.043782759|64.58%
View mm200519jpm 16 rs841214
dbSNP Clinvar
4748825 4215.07 C T PASS 0/1 117 SYNONYMOUS_CODING LOW SILENT 0.40495 0.40500 0.38305 None None None None None None ANKS3|0.043782759|64.58%
View mm200519jpm 16 rs863980
dbSNP Clinvar
4751045 6638.07 C T PASS 0/1 214 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51238 0.51240 0.46737 0.89 0.00 None None None None None None ANKS3|0.043782759|64.58%

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 mm200519jpm 16 rs151136790
dbSNP Clinvar
28507245 723.71 A G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00359 0.00359 0.01299 0.99 0.06 None None None None None None APOBR|0.000791084|96.71%
View mm200519jpm 16 rs151233
dbSNP Clinvar
28506428 1116.07 C T PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.15575 0.15580 0.12773 None None None None None None CLN3|0.080923796|55%,APOBR|0.000791084|96.71%
View mm200519jpm 16 rs40832
dbSNP Clinvar
28508716 5737.28 T C PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98702 0.98700 0.01757 1.00 0.00 None None None None None None APOBR|0.000791084|96.71%

ARMC5

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 mm200519jpm 16 rs151069962
dbSNP Clinvar
31470886 2774.71 T A PASS 0/1 230 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02356 0.02356 0.04236 0.69 0.20 None None None None None None ARMC5|0.038585217|66.26%

ASPHD1

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 mm200519jpm 16 rs140411458,rs35784618
dbSNP Clinvar
29912802 15863.33 G GGGT PASS 1/1 148 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200519jpm 16 rs56252625,rs113642662,rs571414967
dbSNP Clinvar
10524656 2717.29 GGAC G PASS 0/1 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.60324 0.60320 0.41109 None None None None None None ATF7IP2|0.022985481|72.74%
View mm200519jpm 16 rs1970817
dbSNP Clinvar
10575824 5764.29 C A PASS 0/1 87 SYNONYMOUS_CODING LOW SILENT 0.46605 0.46610 0.45729 None None None None None None ATF7IP2|0.022985481|72.74%

ATMIN

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 mm200519jpm 16 rs2257378
dbSNP Clinvar
81077915 13529.28 T C PASS 1/1 126 SYNONYMOUS_CODING LOW SILENT 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200519jpm 16 rs6565261
dbSNP Clinvar
28903656 1788.26 C A PASS 1/1 22 None None None 0.38738 0.38740 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 mm200519jpm 16 rs3743651
dbSNP Clinvar
84449161 761.71 C T PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.09285 0.09285 0.05780 None None None None None None ATP2C2|0.028466008|70.21%
View mm200519jpm 16 rs247818
dbSNP Clinvar
84444349 10375.25 A C PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99621 0.99620 0.00215 1.00 0.00 None None None None None None ATP2C2|0.028466008|70.21%
View mm200519jpm 16 rs410388
dbSNP Clinvar
84493144 8065.25 C G PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99840 0.99840 0.59 0.00 None None None None None None ATP2C2|0.028466008|70.21%
View mm200519jpm 16 rs247897
dbSNP Clinvar
84476200 5109.29 A T PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40815 0.40810 0.38959 0.51 0.15 None None None None None None ATP2C2|0.028466008|70.21%
View mm200519jpm 16 rs247885
dbSNP Clinvar
84485573 12293.25 C A PASS 1/1 134 SYNONYMOUS_CODING LOW SILENT 0.99820 0.99820 0.00180 None None None None None None ATP2C2|0.028466008|70.21%
View mm200519jpm 16 rs2241640
dbSNP Clinvar
84494275 7568.07 C T PASS 0/1 203 SYNONYMOUS_CODING LOW SILENT 0.47224 0.47220 0.42948 None None None None None None ATP2C2|0.028466008|70.21%

ATXN1L

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 mm200519jpm 16 rs61747555
dbSNP Clinvar
71885423 3473.96 A G PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16933 0.16930 0.15243 0.13 0.00 None None None None None None ATXN1L|0.495247455|16.06%,IST1|0.589563017|12.15%

ATXN2L

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 mm200519jpm 16 rs4344749
dbSNP Clinvar
28842311 6565.25 A G PASS 1/1 57 SYNONYMOUS_CODING LOW SILENT 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
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200519jpm 16 rs1805105
dbSNP Clinvar
396264 13568.29 A G PASS 0/1 262 SYNONYMOUS_CODING LOW SILENT 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200519jpm 16 rs7202563
dbSNP Clinvar
1389153 13315.28 C A PASS 1/1 148 None None None 0.95627 0.95630 0.06378 0.49 0.04 None None None None None None BAIAP3|0.02462485|71.97%
View mm200519jpm 16 rs1132356
dbSNP Clinvar
1394507 16346.25 A C PASS 1/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95108 0.95110 0.07901 0.92 0.00 None None None None None None BAIAP3|0.02462485|71.97%
View mm200519jpm 16 rs1132358
dbSNP Clinvar
1397815 16244.96 C T PASS 0/1 191 SYNONYMOUS_CODING LOW SILENT 0.33766 0.33770 0.36976 None None None None None None BAIAP3|0.02462485|71.97%

BANP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200519jpm 16 rs7499814
dbSNP Clinvar
88052161 7618.28 C A PASS 0/1 188 SYNONYMOUS_CODING LOW SILENT 0.58047 0.58050 0.32674 None None None None None None BANP|0.091573443|52.92%
View mm200519jpm 16 rs74740586
dbSNP Clinvar
88061150 23051.28 C T PASS 0/1 478 SYNONYMOUS_CODING LOW SILENT 0.37480 0.37480 0.27570 None None None None None None BANP|0.091573443|52.92%
View mm200519jpm 16 rs17850504
dbSNP Clinvar
88052146 3768.96 C T PASS 0/1 181 SYNONYMOUS_CODING LOW SILENT 0.05192 0.05192 0.09558 None None None None None None BANP|0.091573443|52.92%
View mm200519jpm 16 rs3815820
dbSNP Clinvar
88017809 13960.96 C T PASS 0/1 178 SYNONYMOUS_CODING LOW SILENT 0.58726 0.58730 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 mm200519jpm 16 rs4784677
dbSNP Clinvar
56548501 4714.25 C T PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99641 0.99640 0.00554 1.00 0.00 None None None None None 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 mm200519jpm 16 rs3169330
dbSNP Clinvar
75269267 20786.96 A G PASS 1/1 275 SYNONYMOUS_CODING LOW SILENT 0.92632 0.92630 0.15451 None None None None None None BCAR1|0.161589333|41.34%
View mm200519jpm 16 rs1035539
dbSNP Clinvar
75276775 1829.27 G A PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59385 0.59380 0.42286 0.39 0.00 None None None None None None BCAR1|0.161589333|41.34%

BCMO1

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 mm200519jpm 16 rs28370522
dbSNP Clinvar
81279120 7249.26 T C PASS 0/1 105 SYNONYMOUS_CODING LOW SILENT 0.37959 0.37960 0.38750 None None None None None None BCO1|0.044162038|64.47%
View mm200519jpm 16 rs7501331
dbSNP Clinvar
81314496 1214.96 C T PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15216 0.15220 0.17156 0.02 0.11 None None None None None None BCO1|0.044162038|64.47%
View mm200519jpm 16 rs12934922
dbSNP Clinvar
81301694 4641.26 A T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22724 0.22720 0.35251 0.03 0.00 None None None None None None BCO1|0.044162038|64.47%

BFAR

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 mm200519jpm 16 rs11546303
dbSNP Clinvar
14742400 2332.28 T G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25200 0.25200 0.31715 0.66 0.00 None None None None None None BFAR|0.182416746|38.73%

BRICD5

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 mm200519jpm 16 rs26857
dbSNP Clinvar
2260567 3892.96 C T PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51558 0.51560 0.47889 0.48 0.01 None None None None None None BRICD5|0.004572859|86.34%
View mm200519jpm 16 rs26856
dbSNP Clinvar
2260612 9309.29 T C PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63279 0.63280 0.31255 1.00 0.00 None None None None None None BRICD5|0.004572859|86.34%