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Genes:
AARS, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, AC004381.6, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM5, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, ALG1, ANKRD11, ANKS3, ARMC5, ATF7IP2, ATMIN, ATP2C2, ATXN2L, AXIN1, BAIAP3, BANP, BBS2, BCAR1, BCKDK, BCMO1, BFAR, BRICD5, C16orf3, C16orf62, C16orf71, C16orf89, C16orf95, CA5A, CACNA1H, CAPN15, CAPNS2, CARHSP1, CCDC135, CCDC154, CCDC64B, CCL22, CCP110, CD19, CDH1, CDH11, CDH13, CDH3, CDH5, CDIP1, CDT1, CDYL2, CENPBD1, CENPN, CES1, CES2, CES5A, CETP, CFDP1, CHD9, CHST5, CHTF18, CIITA, CLCN7, CLDN6, CLEC16A, CLEC18A, CLEC3A, CLUAP1, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COQ7, CORO1A, CORO7-PAM16, COX4I1, CPPED1, CRAMP1L, CRISPLD2, CTRB2, CTU2, CYBA, DCUN1D3, DDX28, DECR2, DEF8, DHX38, DNAAF1, DNAH3, DNAJA3, DNASE1, DOC2A, DPEP2, DYNC1LI2, E4F1, EARS2, EDC4, EEF2K, ERI2, FA2H, FAM86A, FAM92B, FANCA, FOPNL, FUS, GAS8, GDPD3, GGA2, GINS2, GLG1, GLIS2, GLYR1, GNAO1, GOT2, GPR114, GPR139, GPR56, GPR97, GRIN2A, GSE1, GSG1L, GSPT1, HAGH, HAGHL, HAS3, HBQ1, HCFC1R1, HEATR3, HPR, HS3ST2, HSD3B7, HSDL1, HYDIN, IGFALS, IL34, IL4R, IRX5, IST1, ITFG3, ITGAD, ITGAL, ITGAM, ITGAX, JPH3, KAT8, KATNB1, KCNG4, KIAA0556, KIF22, KIFC3, KLHL36, LAT, LMF1, LPCAT2, MAPK8IP3, MC1R, MEFV, MEIOB, METTL22, MLKL, MLYCD, MMP2, MMP25, MON1B, MRPL28, MRPS34, MSLN, MT1A, MT1B, MT1M, MT4, MTHFSD, MTSS1L, MVD, MYH11, MYLK3, NAGPA, NDE1, NDRG4, NLRC3, NLRC5, NME3, NMRAL1, NOB1, NOD2, NOMO1, NPRL3, NQO1, NSMCE1, NUBP2, NUDT7, NUP93, OR1F1, OR2C1, ORAI3, ORC6, OSGIN1, PDIA2, PDILT, PDPR, PDXDC1, PIEZO1, PKD1, PKD1L2, PLCG2, PMFBP1, POLR2C, POLR3K, PPL, PRDM7, PRM1, PRM2, PRM3, PRR25, PRRT2, PRSS21, PRSS36, PRSS53, PRSS54, QPRT, RAB11FIP3, RBL2, RFWD3, RGS11, RHBDF1, RHOT2, RMI2, RNF166, RNF40, RPL13, RSL1D1, SALL1, SCNN1B, SDR42E1, SEC14L5, SEPT1, SEPT12, SETD6, SEZ6L2, SF3B3, SHCBP1, SHISA9, SLC12A3, SLC12A4, SLC38A7, SLC38A8, SLC5A11, SLX4, SMG1, SNN, SNX20, SNX29, SOX8, SPSB3, SRCAP, SRL, SRRM2, SSTR5, SULT1A1, SULT1A2, SYCE1L, TAF1C, TANGO6, TAOK2, TBC1D10B, TBL3, TBX6, TCEB2, TELO2, TEPP, TFAP4, TLDC1, TMC7, TMEM159, TMEM8A, TNFRSF17, TNP2, TNRC6A, TPSAB1, TPSB2, TPSD1, TPSG1, TRIM72, TXNDC11, UBE2I, UBN1, UMOD, UNKL, USP10, VAC14, VPS35, VPS9D1, VWA3A, WDR90, WWOX, WWP2, XPO6, XYLT1, ZC3H18, ZC3H7A, ZCCHC14, ZDHHC7, ZFHX3, ZG16, ZNF174, ZNF205, ZNF23, ZNF263, ZNF267, ZNF423, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF668, ZNF720, ZNF75A, ZNF764, ZNF768, ZNF778, ZSCAN10, ZSCAN32,

Genes at Omim

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACD, ACSF3, ADAMTS18, ALG1, ANKRD11, ARMC5, AXIN1, BBS2, BCKDK, CA5A, CACNA1H, CD19, CDH1, CDH11, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COQ7, CORO1A, CTU2, CYBA, DHX38, DNAAF1, DNASE1, EARS2, FA2H, FANCA, FUS, GAS8, GLIS2, GNAO1, GRIN2A, HAGH, HSD3B7, HYDIN, IGFALS, IL4R, IRX5, JPH3, KATNB1, KIF22, LAT, LMF1, MC1R, MEFV, MEIOB, MLYCD, MMP2, MRPS34, MVD, MYH11, NDE1, NOD2, NPRL3, NQO1, NUP93, ORC6, PIEZO1, PKD1, PLCG2, PMFBP1, PRRT2, RFWD3, SALL1, SCNN1B, SEPT12, SLC12A3, SLC38A8, SLX4, SRCAP, SSTR5, TBX6, TELO2, TNRC6A, UMOD, VAC14, VPS35, WWOX, XYLT1, ZFHX3, ZNF423, ZNF469,
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)
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)
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)
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)
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)
CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (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)
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)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (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)
HSD3B7 Bile acid synthesis defect, congenital, 1, 607765 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (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)
KATNB1 Lissencephaly 6, with microcephaly, 616212 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
LAT Immunodeficiency 52, 617514 (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)
MLYCD Malonyl-CoA decarboxylase deficiency, 248360 (3)
MMP2 Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
MRPS34 Combined oxidative phosphorylation deficiency 32, 617664 (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)
ORC6 Meier-Gorlin syndrome 3, 613803 (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)
PMFBP1 Spermatogenic failure 31, 618112 (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)
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)
SLX4 Fanconi anemia, complementation group P, 613951 (3)
SRCAP Floating-Harbor syndrome, 136140 (3)
SSTR5 Somatostatin analog, resistance to (3)
TBX6 Spondylocostal dysostosis 5, 122600 (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)
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)
ZNF423 Joubert syndrome 19, 614844 (3)
Nephronophthisis 14, 614844 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACD, ACSF3, ADAMTS18, ALG1, ANKRD11, ARMC5, AXIN1, BBS2, BCKDK, CA5A, CD19, CDH1, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COQ7, CORO1A, CYBA, DNAAF1, DNASE1, EARS2, FA2H, FANCA, FUS, GAS8, GLIS2, GNAO1, GRIN2A, HSD3B7, IGFALS, JPH3, KATNB1, KIAA0556, KIF22, LMF1, MC1R, MEFV, MLYCD, MMP2, MVD, MYH11, NDE1, NOD2, ORC6, PIEZO1, PKD1, PLCG2, PRRT2, SALL1, SCNN1B, SEPT12, SLC12A3, SLC38A8, SLX4, SRCAP, SSTR5, TBX6, UMOD, 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
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
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
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
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
DNAAF1 Ciliary dyskinesia, primary, 13
DNASE1 Macular dystrophy, North Carolina type
EARS2 Combined oxidative phosphorylation deficiency 12
FA2H Spastic paraplegia 35, autosomal recessive
FANCA Fanconi anemia, complementation group A
FUS Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
Essential tremor
GAS8 Ciliary dyskinesia, primary, 33
GLIS2 Nephronophthisis 7
GNAO1 Epileptic encephalopathy, early infantile, 17
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation
HSD3B7 Bile acid synthesis defect, congenital, 1
IGFALS Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of
JPH3 Huntington disease-like 2
KATNB1 Lissencephaly 6, with microcephaly
KIAA0556 Joubert syndrome 26
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
LMF1 Combined lipase deficiency
MC1R Increased analgesia from kappa-opioid receptor agonist, female specific
MEFV Familial Mediterranean fever
MLYCD Malonyl-CoA decarboxylase deficiency
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
ORC6 Meier-Gorlin syndrome 3
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
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
SLX4 Fanconi anemia type P
SRCAP Floating-Harbor syndrome
SSTR5 Resistance to somatostatin treatment
TBX6 Spondylocostal dysostosis 5
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
ZNF423 Joubert syndrome 19
Nephronophthisis 14
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 1604
Number of Genes: 333

Export to: CSV

AARS

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 allfamilies AWL 16 rs4081753
dbSNP Clinvar
70287177 1392.51 A G PASS 1/1 107 SYNONYMOUS_CODING LOW None 0.88119 0.88120 0.15082 None None None None None None AARS|0.341353977|24.74%

ABAT

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs1731017
dbSNP Clinvar
8839954 1060.49 A G PASS 1/1 103 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.50080 0.50080 0.48599 0.61 0.00 None None None None None None ABAT|0.163825558|41.04%

ABCA3

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 allfamilies AWL 16 rs149532
dbSNP Clinvar
2331430 1722.46 A G PASS 1/1 180 SYNONYMOUS_CODING LOW None 0.90096 0.90100 0.13058 None None None None None None ABCA3|0.043607901|64.64%

ABCC1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs246221
dbSNP Clinvar
16138322 256.795 T C PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.42472 0.42470 0.40045 None None None None None None ABCC1|0.091540799|52.94%
View allfamilies AWL 16 rs35587
dbSNP Clinvar
16139714 339.08 T C PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.42292 0.42290 0.39846 None None None None None None ABCC1|0.091540799|52.94%
View allfamilies AWL 16 rs35605
dbSNP Clinvar
16162019 1103.62 T C PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.78654 0.78650 0.15359 None None None None None None ABCC1|0.091540799|52.94%

ABCC11

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs61739606
dbSNP Clinvar
48204078 478.77 T A PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.05092 0.05092 0.09322 0.00 1.00 None None None None None None ABCC11|0.006558104|83.99%
View allfamilies AWL 16 rs8047091
dbSNP Clinvar
48248918 3379.61 T C PASS 0/1 283 SYNONYMOUS_CODING LOW None 0.16993 0.16990 0.21051 None None None None None None ABCC11|0.006558104|83.99%
View allfamilies AWL 16 rs17822471
dbSNP Clinvar
48242379 274.263 G A PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.02456 0.02456 0.05130 0.05 0.14 None None None None None None ABCC11|0.006558104|83.99%
View allfamilies AWL 16 rs16945916
dbSNP Clinvar
48201432 491.57 T C PASS 0/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.17013 0.17010 0.22581 1.00 0.00 None None None None None None ABCC11|0.006558104|83.99%
View allfamilies AWL 16 rs11866251
dbSNP Clinvar
48227862 282.657 G A PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.13878 0.13880 0.18766 None None None None None None ABCC11|0.006558104|83.99%

ABCC12

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 allfamilies AWL 16 rs7193955
dbSNP Clinvar
48122582 1343.59 G A PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.59125 0.59130 0.40394 0.09 0.01 None None None None None None ABCC12|0.070949421|57.23%
View allfamilies AWL 16 rs12149826
dbSNP Clinvar
48164777 1082.23 T C PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.12081 0.12080 0.22335 None None None None None None ABCC12|0.070949421|57.23%

ABCC6

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 allfamilies AWL 16 rs6416668
dbSNP Clinvar
16271357 2320.26 T C PASS 1/1 178 NON_SYNONYMOUS_CODING MODERATE None 0.96426 0.96430 0.03556 0.29 0.00 None None None None None None ABCC6|0.022547171|72.9%
View allfamilies AWL 16 rs7500834
dbSNP Clinvar
16272670 1034.46 T C PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%

AC004381.6

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 allfamilies AWL 16 rs9929443
dbSNP Clinvar
20855309 1694.03 A G PASS 1/1 148 SYNONYMOUS_CODING LOW None 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 . 67692531 90.97 G T PASS 0/1 107 SYNONYMOUS_CODING LOW None None None None None None None ACD|0.009649667|81.12%
View allfamilies AWL 16 rs6979
dbSNP Clinvar
67691668 3226.23 A G PASS 1/1 217 NON_SYNONYMOUS_CODING MODERATE None 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
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs6500528
dbSNP Clinvar
89167443 2857.08 T C PASS 1/1 252 SYNONYMOUS_CODING LOW None 0.61981 0.61980 0.27455 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs7188200
dbSNP Clinvar
89167094 796.92 T C PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.62440 0.62440 0.27 0.00 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs7201122
dbSNP Clinvar
89167140 1834.92 G C PASS 1/1 172 SYNONYMOUS_CODING LOW None 0.84924 0.84920 0.08482 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs6500526
dbSNP Clinvar
89167395 2959.35 C T PASS 1/1 277 SYNONYMOUS_CODING LOW None 0.61901 0.61900 0.27585 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs7193255
dbSNP Clinvar
89167404 2991.28 T C PASS 1/1 274 SYNONYMOUS_CODING LOW None 0.61981 0.61980 0.27532 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs12447947
dbSNP Clinvar
89199651 917.295 G A PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.14537 0.14540 0.26277 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs6500527
dbSNP Clinvar
89167431 2937.52 G C PASS 1/1 264 SYNONYMOUS_CODING LOW None 0.61981 0.61980 0.27755 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs3743979
dbSNP Clinvar
89180883 1400.48 G A PASS 1/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.62959 0.62960 0.29186 0.10 0.63 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs6500529
dbSNP Clinvar
89167458 2546.43 C A PASS 1/1 227 SYNONYMOUS_CODING LOW None 0.61921 0.61920 None None None None None None ACSF3|0.012049699|79.2%

ACSM1

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 allfamilies AWL 16 rs151328
dbSNP Clinvar
20648702 172.49 G A PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.34685 0.34680 0.30019 None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%
View allfamilies AWL 16 rs1692729
dbSNP Clinvar
20638576 234.15 A T PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.60583 0.60580 0.46293 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
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs7187246
dbSNP Clinvar
20476852 266.38 T C PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.50559 0.50560 0.38667 1.00 0.00 None None None None None None ACSM2A|0.005190474|85.6%
View allfamilies AWL 16 rs1133607
dbSNP Clinvar
20494408 305.99 C T PASS 0/1 179 NON_SYNONYMOUS_CODING MODERATE None 0.14078 0.14080 0.10941 0.01 0.00 None None None None None None ACSM2A|0.005190474|85.6%
View allfamilies AWL 16 rs1700805
dbSNP Clinvar
20488696 213.649 A G PASS 0/1 63 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%

ACSM2B

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 allfamilies AWL 16 rs16970280
dbSNP Clinvar
20552075 1710.96 G T PASS 1/1 111 SYNONYMOUS_CODING LOW None 0.70607 0.70610 0.18525 None None None None None None ACSM2B|0.005001118|85.81%
View allfamilies AWL 16 rs78729855
dbSNP Clinvar
20576048 66.69 C A PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.26518 0.26520 0.14797 None None None None None None ACSM2B|0.005001118|85.81%

ACSM5

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 allfamilies AWL 16 rs8063682
dbSNP Clinvar
20441084 446.24 T C PASS 0/1 196 SYNONYMOUS_CODING LOW None 0.54253 0.54250 0.43532 None None None None None None ACSM5|0.017561285|75.57%
View allfamilies AWL 16 rs112760108
dbSNP Clinvar
20430674 297.2 T C PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.03734 0.03734 0.04213 None None None None None None ACSM5|0.017561285|75.57%
View allfamilies AWL 16 rs59025904
dbSNP Clinvar
20432605 437.78 A G PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.13658 0.13660 0.13225 1.00 0.00 None None None None None None ACSM5|0.017561285|75.57%
View allfamilies AWL 16 rs12103211
dbSNP Clinvar
20435262 241.05 T G PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.15276 0.15280 0.15001 None None None None None None ACSM5|0.017561285|75.57%
View allfamilies AWL 16 rs12932087
dbSNP Clinvar
20441020 353.97 G A PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.10723 0.10720 0.07128 0.92 0.00 None None None None None None ACSM5|0.017561285|75.57%
View allfamilies AWL 16 rs12931877
dbSNP Clinvar
20441077 481.35 A G PASS 0/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.09085 0.09085 0.00300 0.65 0.00 None None None None None None ACSM5|0.017561285|75.57%

ADAD2

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 allfamilies AWL 16 rs2303238
dbSNP Clinvar
84229559 1538.37 T C PASS 0/1 251 SYNONYMOUS_CODING LOW None 0.80531 0.80530 0.16659 None None None None None None ADAD2|0.00601312|84.58%

ADAMTS18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs8059275
dbSNP Clinvar
77389956 1058.99 A G PASS 1/1 114 SYNONYMOUS_CODING LOW None 0.88219 0.88220 0.12527 None None None None None None ADAMTS18|0.112557021|48.75%
View allfamilies AWL 16 rs3743749
dbSNP Clinvar
77323235 343.05 C G PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.18191 0.18190 0.16467 0.01 0.01 None None None None None None ADAMTS18|0.112557021|48.75%
View allfamilies AWL 16 rs35478105
dbSNP Clinvar
77325325 2850.34 G T PASS 0/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.22784 0.22780 0.36819 0.03 0.55 None None None None None None ADAMTS18|0.112557021|48.75%
View allfamilies AWL 16 rs11643211
dbSNP Clinvar
77401545 321.0 A G PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.36681 0.36680 0.25262 0.41 0.15 None None None None None None ADAMTS18|0.112557021|48.75%
View allfamilies AWL 16 rs11640912
dbSNP Clinvar
77359919 113.775 A T PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.31887 0.00 0.00 None None None None None None ADAMTS18|0.112557021|48.75%
View allfamilies AWL 16 rs9930984
dbSNP Clinvar
77353973 461.35 G T PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.63498 0.63500 0.48561 0.12 0.00 None None None None None None ADAMTS18|0.112557021|48.75%

ADAT1

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 allfamilies AWL 16 rs201306376
dbSNP Clinvar
75654551 229.08 G A PASS 0/1 72 SYNONYMOUS_CODING LOW None None None None None None None ADAT1|0.07647983|55.99%
View allfamilies AWL 16 rs3743598
dbSNP Clinvar
75646685 1064.64 G T PASS 0/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.57049 0.57050 0.36450 0.71 0.00 None None None None None None ADAT1|0.07647983|55.99%
View allfamilies AWL 16 . 75654664 214.61 A G PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.04 1.00 None None None None None None ADAT1|0.07647983|55.99%

ADCY7

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 allfamilies AWL 16 rs8051594
dbSNP Clinvar
50326661 1555.65 A G PASS 1/1 140 SYNONYMOUS_CODING LOW None 0.99441 0.99440 0.00639 None None None None None None ADCY7|0.080648112|55.03%
View allfamilies AWL 16 rs145191901
dbSNP Clinvar
50332883 58.69 G A PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00031 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 allfamilies AWL 16 rs2530898
dbSNP Clinvar
4165432 1110.53 T C PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.99980 0.99980 None None None None None None ADCY9|0.187231083|38.15%
View allfamilies AWL 16 rs2230738
dbSNP Clinvar
4164364 1069.8 C T PASS 1/1 114 SYNONYMOUS_CODING LOW None 0.32428 0.32430 0.18732 None None None None None None ADCY9|0.187231083|38.15%
View allfamilies AWL 16 rs2240735
dbSNP Clinvar
4027605 916.36 C T PASS 1/1 95 SYNONYMOUS_CODING LOW None 0.46845 0.46850 0.42151 None None None None None None ADCY9|0.187231083|38.15%
View allfamilies AWL 16 rs2230742
dbSNP Clinvar
4016676 1834.58 A G PASS 1/1 150 SYNONYMOUS_CODING LOW None 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs1047732
dbSNP Clinvar
5132636 2186.42 C T PASS 0/1 273 SYNONYMOUS_CODING LOW None 0.51977 0.51980 0.46937 None None None None None None ALG1|0.0336465|67.9%
View allfamilies AWL 16 rs112683515
dbSNP Clinvar
5122072 927.453 G GGTCT PASS 0/1 111 None None None 0.58347 0.58350 0.48735 None None None None None None ALG1|0.0336465|67.9%
View allfamilies AWL 16 rs17849848
dbSNP Clinvar
5128817 577.41 G A PASS 0/1 170 NON_SYNONYMOUS_CODING MODERATE None 0.07268 0.07268 0.06105 0.69 0.01 None None None None None None ALG1|0.0336465|67.9%
View allfamilies AWL 16 rs9745522
dbSNP Clinvar
5134774 210.83 T A PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.12700 0.12700 0.11365 0.21 0.04 None None None None None None ALG1|0.0336465|67.9%,EEF2KMT|0.00596739|84.61%

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 allfamilies AWL 16 rs2279349
dbSNP Clinvar
89350178 1038.79 G A PASS 1/1 111 SYNONYMOUS_CODING LOW None 0.76358 0.76360 0.14782 None None None None None None ANKRD11|0.017604248|75.55%
View allfamilies AWL 16 rs2279348
dbSNP Clinvar
89350038 935.18 G A PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.53355 0.53350 0.30299 0.00 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 allfamilies AWL 16 rs863980
dbSNP Clinvar
4751045 280.44 C T PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.51238 0.51240 0.46737 0.89 0.00 None None None None None None ANKS3|0.043782759|64.58%
View allfamilies AWL 16 rs841210
dbSNP Clinvar
4752134 360.81 A G PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.52995 0.53000 0.44559 None None None None None None ANKS3|0.043782759|64.58%
View allfamilies AWL 16 rs841214
dbSNP Clinvar
4748825 141.66 C T PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.40495 0.40500 0.38305 None None None None None None ANKS3|0.043782759|64.58%

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 allfamilies AWL 16 rs755044938
dbSNP Clinvar
31473780 447.34 C T PASS 0/1 217 SYNONYMOUS_CODING LOW None None None None None None None ARMC5|0.038585217|66.26%

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 allfamilies AWL 16 rs1970817
dbSNP Clinvar
10575824 363.224 C A PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.46605 0.46610 0.45729 None None None None None None ATF7IP2|0.022985481|72.74%
View allfamilies AWL 16 rs56252625,rs113642662,rs571414967
dbSNP Clinvar
10524656 1835.7 GGAC G PASS 0/1 175 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.60324 0.60320 0.41109 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 allfamilies AWL 16 rs2257378
dbSNP Clinvar
81077915 593.89 T C PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.70268 0.70270 0.25615 None None None None None None ATMIN|0.091182052|53%

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 allfamilies AWL 16 rs3743651
dbSNP Clinvar
84449161 311.46 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.09285 0.09285 0.05780 None None None None None None ATP2C2|0.028466008|70.21%
View allfamilies AWL 16 rs247885
dbSNP Clinvar
84485573 2829.87 C A PASS 1/1 221 SYNONYMOUS_CODING LOW None 0.99820 0.99820 0.00180 None None None None None None ATP2C2|0.028466008|70.21%
View allfamilies AWL 16 rs247818
dbSNP Clinvar
84444349 2118.78 A C PASS 1/1 217 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.00215 1.00 0.00 None None None None None None ATP2C2|0.028466008|70.21%

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 allfamilies AWL 16 rs4344749
dbSNP Clinvar
28842311 1434.58 A G PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.99780 0.99780 0.00239 None None None None None None ATXN2L|0.330957968|25.43%
View allfamilies AWL 16 . 28847395 351.111 C G PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.22 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 allfamilies AWL 16 rs1805105
dbSNP Clinvar
396264 1724.82 A G PASS 1/1 149 SYNONYMOUS_CODING LOW None 0.63898 0.63900 0.28587 None None None None None None AXIN1|0.853904353|4.55%
View allfamilies AWL 16 rs214250
dbSNP Clinvar
348222 1590.89 C T PASS 1/1 168 SYNONYMOUS_CODING LOW None 0.21026 0.21030 0.24871 None None None None None None AXIN1|0.853904353|4.55%
View allfamilies AWL 16 rs214252
dbSNP Clinvar
347184 1264.67 A G PASS 1/1 134 SYNONYMOUS_CODING LOW None 0.20927 0.20930 0.28095 None None None None None None AXIN1|0.853904353|4.55%

BAIAP3

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 allfamilies AWL 16 rs1132356
dbSNP Clinvar
1394507 3823.09 A C PASS 1/1 234 NON_SYNONYMOUS_CODING MODERATE None 0.95108 0.95110 0.07901 0.92 0.00 None None None None None None BAIAP3|0.02462485|71.97%
View allfamilies AWL 16 rs61742684
dbSNP Clinvar
1389222 485.58 C T PASS 0/1 260 SYNONYMOUS_CODING LOW None 0.02097 0.02097 0.03879 None None None None None None BAIAP3|0.02462485|71.97%
View allfamilies AWL 16 rs1132358
dbSNP Clinvar
1397815 639.75 C T PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.33766 0.33770 0.36976 None None None None None None BAIAP3|0.02462485|71.97%
View allfamilies AWL 16 rs7202563
dbSNP Clinvar
1389153 2316.1 C A PASS 1/1 268 None None None 0.95627 0.95630 0.06378 0.49 0.01 None None None None None None BAIAP3|0.02462485|71.97%

BANP

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 allfamilies AWL 16 rs7499814
dbSNP Clinvar
88052161 1975.03 C A PASS 0/1 234 SYNONYMOUS_CODING LOW None 0.58047 0.58050 0.32674 None None None None None None BANP|0.091573443|52.92%
View allfamilies AWL 16 rs3815820
dbSNP Clinvar
88017809 1843.45 C T PASS 1/1 222 SYNONYMOUS_CODING LOW None 0.58726 0.58730 None None None None None None BANP|0.091573443|52.92%
View allfamilies AWL 16 rs8050209
dbSNP Clinvar
88105725 1345.38 G A PASS 0/1 218 SYNONYMOUS_CODING LOW None 0.45487 0.45490 0.45611 None None None None None None BANP|0.091573443|52.92%
View allfamilies AWL 16 rs74740586
dbSNP Clinvar
88061150 126.21 C T PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.37480 0.37480 0.27570 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 allfamilies AWL 16 rs4784677
dbSNP Clinvar
56548501 1353.32 C T PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE None 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 allfamilies AWL 16 rs1035539
dbSNP Clinvar
75276775 457.1 G A PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.59385 0.59380 0.42286 0.39 0.01 None None None None None None BCAR1|0.161589333|41.34%
View allfamilies AWL 16 rs3169330
dbSNP Clinvar
75269267 1710.82 A G PASS 0/1 214 SYNONYMOUS_CODING LOW 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 allfamilies AWL 16 rs14235
dbSNP Clinvar
31121793 463.61 G A PASS 0/1 160 SYNONYMOUS_CODING LOW None 0.35923 0.35920 0.30291 None None None None None None BCKDK|0.213682179|35.16%

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 allfamilies AWL 16 rs12934922
dbSNP Clinvar
81301694 2086.11 A T PASS 1/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.22724 0.22720 0.35251 0.03 0.00 None None None None None None BCO1|0.044162038|64.47%
View allfamilies AWL 16 rs28370522
dbSNP Clinvar
81279120 1105.17 T C PASS 1/1 150 SYNONYMOUS_CODING LOW None 0.37959 0.37960 0.38750 None None None None None None BCO1|0.044162038|64.47%

BFAR

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 allfamilies AWL 16 rs11546303
dbSNP Clinvar
14742400 577.47 T G PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs26856
dbSNP Clinvar
2260612 1566.64 T C PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.63279 0.63280 0.31255 1.00 0.00 None None None None None None BRICD5|0.004572859|86.34%

C16orf3

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 allfamilies AWL 16 rs3785184
dbSNP Clinvar
90095484 325.48 C T PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.23482 0.23480 0.08063 None None None None None None GAS8|0.279441552|29.14%,GAS8-AS1|0.000409624|98.88%

C16orf62

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 allfamilies AWL 16 rs957676
dbSNP Clinvar
19680546 338.54 T C PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.32488 0.32490 0.34475 None None None None None None C16orf62|0.11372592|48.53%

C16orf71

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 allfamilies AWL 16 rs859305
dbSNP Clinvar
4790273 869.631 G A PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.55272 0.55270 0.41835 None None None None None None C16orf71|0.001288696|93.97%
View allfamilies AWL 16 rs17853375
dbSNP Clinvar
4797457 1565.64 C T PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.42792 0.42790 0.44208 0.07 0.41 None None None None None None C16orf71|0.001288696|93.97%
View allfamilies AWL 16 rs737700
dbSNP Clinvar
4796393 3818.76 A G PASS 0/1 186 NON_SYNONYMOUS_CODING MODERATE None 0.56590 0.56590 0.38518 0.85 0.00 None None None None None None C16orf71|0.001288696|93.97%
View allfamilies AWL 16 rs2075469
dbSNP Clinvar
4794873 864.936 C T PASS 0/1 136 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.55152 0.55150 0.40049 0.02 0.31 None None None None None None C16orf71|0.001288696|93.97%
View allfamilies AWL 16 rs859310
dbSNP Clinvar
4787987 543.082 G A PASS 0/1 54 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.52816 0.52820 0.44344 0.55 0.00 None None None None None None C16orf71|0.001288696|93.97%