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+ Genes 333

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 associated with diseases 92

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
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs7196459
dbSNP Clinvar 		90141477 3441.24 T G PASS 1/1 287 None None None 0.98043 0.98040 0.05982 None None None None None None PRDM7|0.002930821|88.75%

PRDM7
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 rs2078478
dbSNP Clinvar 		90130136 580.5 C T PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.28754 0.28750 0.13781 1.00 0.00 None None None None None None PRDM7|0.002930821|88.75%
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 rs4493039
dbSNP Clinvar 		90129970 268.21 C A PASS 1/1 28 None None None 0.30631 0.30630 0.15231 None None None None None None PRDM7|0.002930821|88.75%
View allfamilies AWL 16 rs180980492
dbSNP Clinvar 		90124695 153.32 A T PASS 0/1 46 None None None 0.01358 0.01358 0.02590 None None None None None None PRDM7|0.002930821|88.75%

GAS8
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 rs3743825
dbSNP Clinvar 		90109711 1039.81 A G PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.84425 0.84420 0.17082 None None None None None None GAS8|0.279441552|29.14%
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 rs2241032
dbSNP Clinvar 		90109519 1292.05 G A PASS 1/1 125 None None None 0.26717 0.26720 None None None None None None GAS8|0.279441552|29.14%
View allfamilies AWL 16 rs3785182
dbSNP Clinvar 		90099348 437.58 G A PASS 0/1 208 None None None 0.24880 0.24880 0.10323 None None None None None None GAS8|0.279441552|29.14%
View allfamilies AWL 16 rs868372
dbSNP Clinvar 		90097995 521.13 G C PASS 0/1 193 None None None 0.25819 0.25820 None None None None None None GAS8|0.279441552|29.14%
View allfamilies AWL 16 rs868371
dbSNP Clinvar 		90097979 1983.33 A G PASS 1/1 193 None None None 0.67093 0.67090 None None None None None None GAS8|0.279441552|29.14%

GAS8
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 rs2302513
dbSNP Clinvar 		90097748 211.52 C T PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.24840 0.24840 0.10396 None None None None None None GAS8|0.279441552|29.14%

C16orf3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 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%
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 rs2241084
dbSNP Clinvar 		90075412 2027.16 T C PASS 0/1 203 None None None 0.74780 0.74780 None None None None None None DBNDD1|0.015125819|77.06%

CENPBD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs4785755
dbSNP Clinvar 		90037828 401.87 G A PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.68191 0.68190 0.33380 0.01 0.18 None None None None None None CENPBD1|0.00223771|90.31%
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 rs56219904
dbSNP Clinvar 		90030770 1225.37 A G PASS 1/1 130 None None None 0.22963 0.22960 0.09405 None None None None None None DEF8|0.053128896|61.75%
View allfamilies AWL 16 rs115841388
dbSNP Clinvar 		90029660 385.17 C T PASS 0/1 174 None None None 0.02256 0.02256 None None None None None None DEF8|0.053128896|61.75%

DEF8
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 rs12596872
dbSNP Clinvar 		90023901 844.3 C T PASS 1/1 95 None None None 0.21586 0.21590 0.08484 None None None None None None DEF8|0.053128896|61.75%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs12207
dbSNP Clinvar 		90002360 346.868 G A PASS 0/1 70 None None None 0.05431 0.05431 None None None None None None TUBB3|0.052450362|61.93%
View allfamilies AWL 16 rs1135425
dbSNP Clinvar 		90002290 1249.8 T C PASS 1/1 105 None None None 0.73203 0.73200 None None None None None None TUBB3|0.052450362|61.93%
View allfamilies AWL 16 rs2302897
dbSNP Clinvar 		89998957 357.47 C T PASS 0/1 154 None None None 0.20048 0.20050 0.19812 None None None None None None TUBB3|0.052450362|61.93%
View allfamilies AWL 16 rs28593634
dbSNP Clinvar 		89998930 355.26 C T PASS 0/1 132 None None None 0.20068 0.20070 0.20023 None None None None None None TUBB3|0.052450362|61.93%

MC1R
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 rs885479
dbSNP Clinvar 		89986154 226.44 G A PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.19129 0.19130 0.03707 0.30 0.03 None None None None None None MC1R|0.013226594|78.34%,TUBB3|0.052450362|61.93%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs7200842
dbSNP Clinvar 		89925556 550.57 G A PASS 0/1 286 None None None 0.64177 0.64180 0.44852 None None None None None None SPIRE2|0.038493901|66.29%

FANCA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs2239359
dbSNP Clinvar 		89849480 142.42 C T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.62400 0.62400 0.48230 1.00 0.00 None None None None None None FANCA|0.007695026|82.85%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs1800337
dbSNP Clinvar 		89845194 401.56 A G PASS 0/1 163 None None None 0.68251 0.68250 0.48815 None None None None None None FANCA|0.007695026|82.85%

FANCA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs1131660
dbSNP Clinvar 		89838086 166.39 C A PASS 0/1 89 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01597 0.01597 0.02232 0.11 0.02 None None None None None None FANCA|0.007695026|82.85%
View allfamilies AWL 16 rs1800359
dbSNP Clinvar 		89805261 641.67 A G PASS 0/1 198 None None None 0.85084 0.85080 0.30094 None None None None None None ZNF276|0.058345377|60.32%,FANCA|0.007695026|82.85%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs4785590
dbSNP Clinvar 		89790167 1720.64 G C PASS 0/1 131 None None None 0.15475 0.15480 0.27469 None None None None None None ZNF276|0.058345377|60.32%

VPS9D1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs4785706
dbSNP Clinvar 		89783187 664.492 C T PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.97504 0.97500 0.02510 None None None None None None VPS9D1|0.030388743|69.22%
View allfamilies AWL 16 rs7206570
dbSNP Clinvar 		89782989 2204.1 A G PASS 1/1 150 SYNONYMOUS_CODING LOW None 0.89517 0.89520 0.04170 None None None None None None VPS9D1|0.030388743|69.22%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs11860230
dbSNP Clinvar 		89774411 1876.43 T C PASS 1/1 195 None None None 0.97145 0.97140 0.02796 None None None None None None VPS9D1|0.030388743|69.22%
View allfamilies AWL 16 rs187282
dbSNP Clinvar 		89758973 1794.69 A G PASS 1/1 134 None None None 0.98203 0.98200 0.01824 None None None None None None CDK10|0.099233006|51.33%
View allfamilies AWL 16 rs258338
dbSNP Clinvar 		89720409 2095.84 T A PASS 1/1 182 None None None 0.98942 0.98940 0.01270 None None None None None None CHMP1A|0.227901965|33.54%
View allfamilies AWL 16 rs452176
dbSNP Clinvar 		89653032 1373.73 G A PASS 1/1 73 None None None 0.39816 0.39820 0.46584 None None None None None None CPNE7|0.016959249|75.88%

RPL13
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 rs9930567
dbSNP Clinvar 		89628073 1669.73 G A PASS 0/1 161 NON_SYNONYMOUS_CODING MODERATE None 0.09385 0.09385 0.15597 0.28 0.06 None None None None None None RPL13|0.065040736|58.62%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs4785691
dbSNP Clinvar 		89597221 3467.45 A G PASS 0/1 212 None None None 0.52935 0.52940 0.43744 None None None None None None SPG7|0.052707902|61.82%
View allfamilies AWL 16 rs3114900
dbSNP Clinvar 		89389645 1062.38 G C PASS 1/1 97 None None None 0.98463 0.98460 None None None None None None ANKRD11|0.017604248|75.55%
View allfamilies AWL 16 rs2277908
dbSNP Clinvar 		89371839 1813.97 G A PASS 1/1 108 None None None 0.69669 0.69670 None None None None None None ANKRD11|0.017604248|75.55%
View allfamilies AWL 16 rs3114912
dbSNP Clinvar 		89371827 1866.91 G A PASS 1/1 109 None None None 0.69968 0.69970 None None None None None None ANKRD11|0.017604248|75.55%

ANKRD11
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 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%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs3096305
dbSNP Clinvar 		89345408 1346.34 G A PASS 1/1 99 None None None 0.48482 0.48480 None None None None None None ANKRD11|0.017604248|75.55%

ZNF778
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs60437616
dbSNP Clinvar 		89294697 1459.83 C T PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.70048 0.70050 0.22485 None None None None None None ZNF778|0.001280657|94%
View allfamilies AWL 16 rs28638280
dbSNP Clinvar 		89294511 1668.47 C T PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.76857 0.76860 0.19328 None None None None None None ZNF778|0.001280657|94%
View allfamilies AWL 16 rs9921361
dbSNP Clinvar 		89294439 1874.88 G T PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.69808 0.69810 0.21927 0.05 0.92 None None None None None None ZNF778|0.001280657|94%
View allfamilies AWL 16 rs28415940
dbSNP Clinvar 		89294381 2036.85 T C PASS 1/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.70108 0.70110 0.21779 0.04 0.33 None None None None None None ZNF778|0.001280657|94%
View allfamilies AWL 16 rs4785627
dbSNP Clinvar 		89294184 796.88 G A PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.76877 0.76880 0.19358 None None None None None None ZNF778|0.001280657|94%
View allfamilies AWL 16 rs4785626
dbSNP Clinvar 		89293614 2869.95 A G PASS 1/1 153 SYNONYMOUS_CODING LOW None 0.77017 0.77020 0.18099 None None None None None None ZNF778|0.001280657|94%
View allfamilies AWL 16 rs28417933
dbSNP Clinvar 		89293271 3405.89 A C PASS 1/1 202 NON_SYNONYMOUS_CODING MODERATE None 0.59405 0.59400 0.27331 0.17 0.20 None None None None None None ZNF778|0.001280657|94%
View allfamilies AWL 16 rs113560259,rs10625512
dbSNP Clinvar 		89291210 1985.53 G GGTGA PASS 1/1 181 None None None 0.75100 0.75100 None None None None None None ZNF778|0.001280657|94%
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 rs181700316
dbSNP Clinvar 		89260373 689.32 C T PASS 0/1 231 None None None 0.00220 0.00220 0.00375 None None None None None None CDH15|0.019027782|74.65%
View allfamilies AWL 16 rs12927793
dbSNP Clinvar 		89238190 2825.46 G A PASS 1/1 269 None None None 0.25100 0.25100 0.42212 None None None None None None CDH15|0.019027782|74.65%

ACSF3
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 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%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs118065221
dbSNP Clinvar 		89199522 304.28 C T PASS 0/1 96 None None None 0.00679 0.00679 0.01000 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs3743983
dbSNP Clinvar 		89187378 593.89 G C PASS 1/1 63 None None None 0.61901 0.61900 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs3743980
dbSNP Clinvar 		89180935 1289.45 G T PASS 1/1 131 None None None 0.54074 0.54070 0.33734 None None None None None None ACSF3|0.012049699|79.2%

ACSF3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
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%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 rs10578141
dbSNP Clinvar 		89169219 1538.71 CCT C PASS 1/1 120 None None None 0.60523 0.60520 0.29853 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs4782456
dbSNP Clinvar 		89169205 1603.36 C G PASS 1/1 137 None None None 0.61901 0.61900 0.27443 None None None None None None ACSF3|0.012049699|79.2%

ACSF3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
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%
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 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 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 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 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 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%
Omim - GeneCards - NCBI
Options Individual Chr
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs11273288
dbSNP Clinvar 		89167075 665.77 C CC... PASS 1/1 40 None None None 0.55511 0.55510 0.37981 None None None None None None ACSF3|0.012049699|79.2%
View allfamilies AWL 16 rs57558972
dbSNP Clinvar 		89167066 927.54 C G PASS 1/1 76 None None None 0.62260 0.62260 None None None None None None ACSF3|0.012049699|79.2%

CDT1
Omim - GeneCards - NCBI
Options Individual Chr
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs572275
dbSNP Clinvar 		88874632 125.837 C G PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.55272 0.55270 0.48320 None None None None None None CDT1|0.134079619|45.26%
View allfamilies AWL 16 rs510862
dbSNP Clinvar 		88872511 865.07 T C PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.87021 0.87020 0.15235 None None None None None None CDT1|0.134079619|45.26%
View allfamilies AWL 16 rs480727
dbSNP Clinvar 		88872229 1819.46 A G PASS 0/1 286 NON_SYNONYMOUS_CODING MODERATE None 0.57129 0.57130 0.49546 0.20 0.01 None None None None None None CDT1|0.134079619|45.26%
View allfamilies AWL 16 rs507329
dbSNP Clinvar 		88872145 1041.24 T C PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00046 1.00 0.00 None None None None None None CDT1|0.134079619|45.26%
View allfamilies AWL 16 rs475667
dbSNP Clinvar 		88870967 932.82 T C PASS 0/1 246 SYNONYMOUS_CODING LOW None 0.13099 0.13100 0.10868 None None None None None None CDT1|0.134079619|45.26%
Omim - GeneCards - NCBI
Options Individual Chr
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs11648555
dbSNP Clinvar 		88808918 3077.47 C A PASS 0/1 228 None None None 0.49541 0.49540 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs7201439
dbSNP Clinvar 		88808862 2857.45 C T PASS 1/1 229 None None None 0.83706 0.83710 0.14395 None None None None None None PIEZO1|0.03248512|68.39%

PIEZO1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs6500495
dbSNP Clinvar 		88808743 3825.27 A G PASS 1/1 305 NON_SYNONYMOUS_CODING MODERATE None 0.90935 0.90930 0.09663 1.00 0.00 None None None None None None PIEZO1|0.03248512|68.39%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs2242164
dbSNP Clinvar 		88807878 307.85 G A PASS 0/1 84 None None None 0.29113 0.29110 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs7185664
dbSNP Clinvar 		88805236 435.68 G A PASS 0/1 192 None None None 0.36881 0.36880 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs12443723
dbSNP Clinvar 		88805231 437.07 G A PASS 0/1 192 None None None 0.37400 0.37400 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs7185630
dbSNP Clinvar 		88805183 469.96 G A PASS 0/1 190 None None None 0.26977 0.26980 0.18873 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs34600315
dbSNP Clinvar 		88804924 2532.19 TC T PASS 1/1 257 None None None 0.77077 0.77080 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs11076706
dbSNP Clinvar 		88804856 346.83 G A PASS 0/1 172 None None None 0.26997 0.27000 0.18714 None None None None None None PIEZO1|0.03248512|68.39%

PIEZO1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs7184427
dbSNP Clinvar 		88804734 183.14 A G PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.82029 0.82030 0.14067 0.01 0.00 None None None None None None PIEZO1|0.03248512|68.39%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs8060643
dbSNP Clinvar 		88804618 806.41 G A PASS 0/1 296 None None None 0.36901 0.36900 None None None None None None PIEZO1|0.03248512|68.39%

PIEZO1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs6500493
dbSNP Clinvar 		88803982 1299.1 C G PASS 1/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.75719 0.75720 0.88 0.01 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs13333358
dbSNP Clinvar 		88803124 956.77 T C PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.43031 0.43030 0.35070 0.25 0.04 None None None None None None PIEZO1|0.03248512|68.39%
Omim - GeneCards - NCBI
Options Individual Chr
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 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs2306050
dbSNP Clinvar 		88800295 107.82 C T PASS 0/1 31 None None None 0.28654 0.28650 0.19508 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 . 88793101 339.44 TGC T,... PASS 2/2 62 None None None None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs4516218
dbSNP Clinvar 		88793090 489.78 A G PASS 1/1 63 None None None 0.88558 0.88560 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs2247261
dbSNP Clinvar 		88792933 125.84 C T PASS 1/1 8 None None None 0.31310 0.31310 0.18742 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs4782429
dbSNP Clinvar 		88792097 1614.58 A G PASS 1/1 168 None None None 0.87220 0.87220 0.09593 None None None None None None PIEZO1|0.03248512|68.39%

PIEZO1
Omim - GeneCards - NCBI
Options Individual Chr
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWL 16 rs4782430
dbSNP Clinvar 		88792047 1602.8 A G PASS 1/1 166 SYNONYMOUS_CODING LOW None 0.87260 0.87260 0.09527 None None None None None None PIEZO1|0.03248512|68.39%
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 rs147997608
dbSNP Clinvar 		88790258 130.49 G A PASS 0/1 97 None None None 0.00280 0.00280 0.00416 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs9935872
dbSNP Clinvar 		88788477 1794.65 A G PASS 1/1 166 None None None 0.85963 0.85960 None None None None None None PIEZO1|0.03248512|68.39%

PIEZO1
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 rs8043924
dbSNP Clinvar 		88787704 2875.11 G C PASS 1/1 236 SYNONYMOUS_CODING LOW None 0.85244 0.85240 0.12188 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs6500491
dbSNP Clinvar 		88783521 2371.15 T C PASS 1/1 254 SYNONYMOUS_CODING LOW None 0.89197 0.89200 0.09330 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs8057031
dbSNP Clinvar 		88783449 3742.7 C G PASS 1/1 342 SYNONYMOUS_CODING LOW None 0.68570 0.68570 0.36859 None None None None None None PIEZO1|0.03248512|68.39%
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 rs8044367
dbSNP Clinvar 		88783374 1709.99 A G PASS 1/1 133 None None None 0.89157 0.89160 None None None None None None PIEZO1|0.03248512|68.39%

PIEZO1
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 rs34352064
dbSNP Clinvar 		88782777 589.901 G A PASS 0/1 215 SYNONYMOUS_CODING LOW None 0.00300 0.00300 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs2290902
dbSNP Clinvar 		88782676 2313.54 A G PASS 1/1 185 SYNONYMOUS_CODING LOW None 0.86781 0.86780 None None None None None None PIEZO1|0.03248512|68.39%
View allfamilies AWL 16 rs1061228
dbSNP Clinvar 		88782079 639.999 G A PASS 0/1 199 SYNONYMOUS_CODING LOW None 0.08626 0.08626 None None None None None None PIEZO1|0.03248512|68.39%