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Genes at Omim

ABCC11, ALMS1, BSG, CAPN3, CASR, CEL, CEP290, CHD8, COL17A1, COL25A1, CP, DNAH9, EPAS1, ESR1, GATA4, IL1RAPL1, ITGB4, ITPR1, JPH3, KCNC3, KRT86, LAMA2, LPP, MCM6, MMP1, MMP3, MST1R, MYH6, MYH7, NDUFAF5, NOD2, NPC1, NPC1, OFD1, PHGDH, PKD1L1, PLCD1, PTPN14, SCNN1G, SLC19A3, SP110, TERT, TGFBI, TRIO, TUBGCP4, VCAN, ZFHX4,
ABCC11 [Axillary odor, variation in], 117800 (3)
[Colostrum secretion, variation in], 117800 (3)
[Earwax, wet/dry], 117800 (3)
ALMS1 Alstrom syndrome, 203800 (3)
BSG [Blood group, OK], 111380 (3)
CAPN3 Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3)
CASR Hyperparathyroidism, neonatal, 239200 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
CEL Maturity-onset diabetes of the young, type VIII, 609812 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COL25A1 Fibrosis of extraocular muscles, congenital, 5, 616219 (3)
CP Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)
Cerebellar ataxia, 604290 (3)
[Hypoceruloplasminemia, hereditary], 604290 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
EPAS1 Erythrocytosis, familial, 4, 611783 (3)
ESR1 {HDL response to hormone replacement, augmented} (3)
Breast cancer, somatic, 114480 (3)
{Migraine, susceptibility to}, 157300 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Estrogen resistance, 615363 (3)
{Atherosclerosis, susceptibility to} (3)
GATA4 Atrial septal defect 2, 607941 (3)
Atrioventricular septal defect 4, 614430 (3)
?Testicular anomalies with or without congenital heart disease, 615542 (3)
Tetralogy of Fallot, 187500 (3)
Ventricular septal defect 1, 614429 (3)
IL1RAPL1 Mental retardation, X-linked 21/34, 300143 (3)
ITGB4 Epidermolysis bullosa of hands and feet, 131800 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
JPH3 Huntington disease-like 2, 606438 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KRT86 Monilethrix, 158000 (3)
LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LPP Leukemia, acute myeloid, 601626 (3)
Lipoma (3)
MCM6 Lactase persistence/nonpersistence, 223100 (3)
MMP1 COPD, rate of decline of lung function in, 606963 (3)
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MYH6 Atrial septal defect 3, 614089 (3)
Cardiomyopathy, dilated, 1EE, 613252 (3)
Cardiomyopathy, hypertrophic, 14, 613251 (3)
{Sick sinus syndrome 3}, 614090 (3)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NDUFAF5 Mitochondrial complex I deficiency, nuclear type 16, 618238 (3)
NOD2 Blau syndrome, 186580 (3)
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (2)
{Yao syndrome}, 617321 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
OFD1 Joubert syndrome 10, 300804 (3)
Orofaciodigital syndrome I, 311200 (3)
?Retinitis pigmentosa 23, 300424 (3)
Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)
PHGDH Neu-Laxova syndrome 1, 256520 (3)
Phosphoglycerate dehydrogenase deficiency, 601815 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PLCD1 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)
PTPN14 Choanal atresia and lymphedema, 613611 (3)
SCNN1G Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)
Liddle syndrome 2, 618114 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SLC19A3 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
SP110 Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
TERT {Leukemia, acute myeloid}, 601626 (3)
{Melanoma, cutaneous malignant, 9}, 615134 (3)
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3)
{Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)
{Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
TGFBI Corneal dystrophy, Avellino type, 607541 (3)
Corneal dystrophy, Groenouw type I, 121900 (3)
Corneal dystrophy, Reis-Bucklers type, 608470 (3)
Corneal dystrophy, Thiel-Behnke type, 602082 (3)
Corneal dystrophy, epithelial basement membrane, 121820 (3)
Corneal dystrophy, lattice type I, 122200 (3)
Corneal dystrophy, lattice type IIIA, 608471 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
TUBGCP4 Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)
VCAN Wagner syndrome 1, 143200 (3)
ZFHX4 ?Ptosis, congenital, 178300 (2)

Genes at Clinical Genomics Database

ABCC11, ALMS1, BSG, CAPN3, CASR, CEL, CEP290, CHD8, COL17A1, COL25A1, CP, EPAS1, ESR1, GATA4, HDAC4, IL1RAPL1, ITGB4, ITPR1, JPH3, KCNC3, KRT86, LAMA2, MCM6, MYH6, MYH7, NDUFAF5, NOD2, NPC1, OFD1, PHGDH, PLCD1, PTPN14, SCNN1G, SLC19A3, SP110, TERT, TGFBI, TUBGCP4, VCAN,
ABCC11 Apocrine gland secretion, variation in
ALMS1 Alstrom syndrome
BSG Blood group, OK
CAPN3 Muscular dystrophy, limb-girdle, type 2A
Eosinophilic myositis
CASR Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
CEL Maturity-onset diabetes of the young, type 8
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CHD8 Autism, susceptibility to 18
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COL25A1 Fibrosis of extraocular muscles, congenital 5
CP Aceruloplasminemia
Hypoceruloplasminemia
EPAS1 Erthyrocytosis, familial 4
ESR1 Estrogen resistance
GATA4 Atrioventricular septal defect 4
Ventricular septal defect 1
Atrial septal defect 2
Testicular anomalies with or without congenital heart disease
Tetralogy of Fallot
HDAC4 Brachydacytly-mental retardation syndrome
IL1RAPL1 Mental retardation, X-linked 21/34
ITGB4 Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa simplex, Weber-Cockayne type
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
JPH3 Huntington disease-like 2
KCNC3 Spinocerebellar ataxia 13
KRT86 Monilethrix
LAMA2 Muscular dystrophy, congenital merosin-deficient, 1A
Schizophrenia
MCM6 Lactose intolerance, adult type
Lactase persistence
MYH6 Cardiomyopathy, dilated, 1EE
Cardiomyopathy, familial hypertrophic 14
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NDUFAF5 Mitochondrial complex I deficiency
NOD2 Blau syndrome
Sarcoidosis, early-onset
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
OFD1 Orofaciodigital syndrome 1
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
PHGDH Phosphoglycerate dehydrogenase deficiency
PLCD1 Nail disorder, nonsyndromic congenital, 3
PTPN14 Choanal atresia and lymphedema
SCNN1G Pseudohypoaldosteronism, type I
Liddle syndrome
Bronchiectasis with or without elevated sweat chloride 3
SLC19A3 Thiamine metabolism dysfunction syndrome 2 (biotin or thiamine responsive)
SP110 Hepatic venoocclusive disease with immunodeficiency
TERT Aplastic anemia
Dyskeratosis congenita, autosomal dominant
Dyskeratosis congenita, autosomal recessive
Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
TGFBI Corneal dystrophy, lattice type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, Avellino type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Groenouw type I
Corneal dystrophy, epithelial basement membrane
TUBGCP4 Microcephaly and chorioretinopathy, autosomal recessive 3
VCAN Wagner syndrome 1

Genes at HGMD

Summary

Number of Variants: 71
Number of Genes: 69

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  • Page 1 of 1

ABCC11

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 eb408_unique 16 rs768141790
dbSNP Clinvar
48250190 132.87 G A PASS 0/1 17 SYNONYMOUS_CODING LOW None None None None None None None ABCC11|0.006558104|83.99%

AKAP13

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 eb408_unique 15 . 86122622 1820.77 T C PASS 0/1 178 SYNONYMOUS_CODING LOW None None None None None None None AKAP13|0.042148693|65.04%

ALMS1

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 eb408_unique 2 . 73677554 2467.27 G A VQSRTrancheSNP99.90to100.00 0/1 99 SYNONYMOUS_CODING LOW None None None None None None None ALMS1|0.012791041|78.65%
View eb408_unique 2 . 73613122 535.32 C T PASS 0/1 17 SYNONYMOUS_CODING LOW None None None None None None None ALMS1|0.012791041|78.65%

APH1A

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 eb408_unique 1 . 150239050 1360.3 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None None None None None None None APH1A|0.680054905|9.08%

BRSK2

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 eb408_unique 11 rs200368980
dbSNP Clinvar
1471027 871.26 C G PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.00048 None None None None None None None

BSG

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 eb408_unique 19 rs1803535
dbSNP Clinvar
580710 25243.97 G A VQSRTrancheSNP99.00to99.90 1/1 105 SYNONYMOUS_CODING LOW None 0.01138 0.01138 0.02715 None None None None None None None

C5orf42

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 eb408_unique 5 rs74478954
dbSNP Clinvar
37195976 660.3 A T PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.01777 0.01777 0.01853 None None None None None None C5orf42|0.015292215|76.94%

CAPN3

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 eb408_unique 15 rs1801496
dbSNP Clinvar
42652099 19886.93 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.09425 0.09425 0.10028 None None None None None None CAPN3|0.385639795|21.69%

CASR

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 eb408_unique 3 rs77852524
dbSNP Clinvar
121973114 684.26 C G PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.01118 0.01118 0.00008 None None None None None None CASR|0.90333935|3.37%

CDC42BPB

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 eb408_unique 14 rs139049057
dbSNP Clinvar
103440407 1907.76 C T PASS 0/1 190 SYNONYMOUS_CODING LOW None 0.00015 None None None None None None CDC42BPB|0.042098|65.08%

CEL

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 eb408_unique 9 rs373048848
dbSNP Clinvar
135946536 1992.76 G A VQSRTrancheSNP99.00to99.90 0/1 183 SYNONYMOUS_CODING LOW None 0.00091 None None None None None None CEL|0.037714386|66.56%

CEP290

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 eb408_unique 12 rs201838492
dbSNP Clinvar
88483184 1742.3 A G PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.00241 None None None None None None CEP290|0.560411435|13.34%

CHD8

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 eb408_unique 14 . 21896066 2200.27 T C PASS 0/1 117 SYNONYMOUS_CODING LOW None None None None None None None CHD8|0.616080012|11.24%

CNOT3

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 eb408_unique 19 rs367791191
dbSNP Clinvar
54649480 182.88 T C PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None CNOT3|0.107195119|49.76%

COL17A1

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 eb408_unique 10 rs146490594
dbSNP Clinvar
105819406 1762.29 G A PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00062 None None None None None None COL17A1|0.220252717|34.39%

COL25A1

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 eb408_unique 4 rs780314156
dbSNP Clinvar
109822320 1048.3 G A PASS 0/1 70 SYNONYMOUS_CODING LOW None None None None None None None COL25A1|0.612068275|11.4%

CP

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 eb408_unique 3 rs201270965
dbSNP Clinvar
148904392 3172.3 T C PASS 0/1 146 SYNONYMOUS_CODING LOW None None None None None None None CP|0.122810298|46.99%

DISP1

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 eb408_unique 1 rs143316612
dbSNP Clinvar
223116579 292.75 G A PASS 0/1 12 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.00200 None None None None None None DISP1|0.10684412|49.82%

DMBT1

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 eb408_unique 10 rs200439469
dbSNP Clinvar
124348479 285.51 C T VQSRTrancheSNP99.90to100.00 0/1 31 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00189 None None None None None None DMBT1|0.008326415|82.3%

DNAH9

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 eb408_unique 17 rs150055739
dbSNP Clinvar
11806119 3203.56 C T PASS 0/1 172 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00008 None None None None None None None

EPAS1

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 eb408_unique 2 rs149994721
dbSNP Clinvar
46609733 395.55 G A VQSRTrancheSNP99.00to99.90 0/1 11 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00192 None None None None None None EPAS1|0.56101019|13.31%

ESR1

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 eb408_unique 6 rs746432
dbSNP Clinvar
152129308 79720.64 G C PASS 1/1 135 SYNONYMOUS_CODING LOW None 0.03874 0.03874 0.06013 None None None None None None ESR1|0.999988884|0.07%

FCAR

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 eb408_unique 19 rs77103719
dbSNP Clinvar
55401124 4758.53 G A PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.00619 0.00619 0.00015 None None None None None None FCAR|0.000479395|98.55%

GATA4

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 eb408_unique 8 rs761007335
dbSNP Clinvar
11615894 1062.76 C T PASS 0/1 94 SYNONYMOUS_CODING LOW None None None None None None None GATA4|0.994585118|0.87%

GPANK1

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 eb408_unique 6 rs201946801
dbSNP Clinvar
31630052 2943.55 G C PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None None

HDAC4

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 eb408_unique 2 rs144099208
dbSNP Clinvar
240011747 1706.26 G A PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00023 None None None None None None HDAC4|0.732602049|7.56%

IL1RAPL1

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 eb408_unique X . 29973262 39.99 G C PASS 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None IL1RAPL1|0.968329118|1.75%

ITGB4

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 eb408_unique 17 rs140078827
dbSNP Clinvar
73732669 182.76 C T PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00077 None None None None None None ITGB4|0.346553835|24.38%

ITPR1

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 eb408_unique 3 rs61757111
dbSNP Clinvar
4774816 1567.51 C T PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00213 None None None None None None None

JMJD1C

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb408_unique 10 . 64974259 1215.78 T C PASS 0/1 112 SYNONYMOUS_CODING LOW None None None None None None None JMJD1C|0.551954234|13.64%

JPH3

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 eb408_unique 16 rs202066813
dbSNP Clinvar
87678579 848.26 C T PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00031 None None None None None None JPH3|0.231218042|33.27%

KCNC3

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 eb408_unique 19 rs2301357
dbSNP Clinvar
50826569 4100.26 C T PASS 0/1 201 SYNONYMOUS_CODING LOW None 0.04712 0.04712 0.00469 None None None None None None KCNC3|0.018434583|75%

KRT86

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb408_unique 12 rs201694571
dbSNP Clinvar
52695760 3293.53 C G VQSRTrancheSNP99.00to99.90 0/1 118 SYNONYMOUS_CODING LOW None 0.00519 0.00519 0.00273 None None None None None None KRT86|0.255577854|31.06%

LAMA2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb408_unique 6 rs145295628
dbSNP Clinvar
129823857 811.77 C T PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00023 None None None None None None LAMA2|0.84870738|4.68%

LPP

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb408_unique 3 rs138526352
dbSNP Clinvar
188326969 1646.76 C G PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.00023 None None None None None None LPP|0.866185415|4.34%

MAST4

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb408_unique 5 rs376800843
dbSNP Clinvar
66461475 699.76 C T PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.00057 None None None None None None MAST4|0.51813717|15.06%

MCM6

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 eb408_unique 2 rs3087353
dbSNP Clinvar
136623717 1276.54 C T PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.03594 0.03594 0.00085 None None None None None None MCM6|0.857412549|4.52%

MMP1

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 eb408_unique 11 rs10488
dbSNP Clinvar
102668022 42748.61 C T PASS 1/1 143 SYNONYMOUS_CODING LOW None 0.07228 0.07228 0.08313 None None None None None None MMP1|0.220212117|34.4%

MMP3

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 eb408_unique 11 rs144383864
dbSNP Clinvar
102714266 1536.76 A T PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00023 None None None None None None MMP3|0.461471213|17.61%

MST1R

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 eb408_unique 3 rs781220265
dbSNP Clinvar
49929195 1035.76 T C PASS 0/1 91 SYNONYMOUS_CODING LOW None None None None None None None MST1R|0.040225274|65.7%

MYH6

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 eb408_unique 14 rs17091278
dbSNP Clinvar
23852497 1946.58 T C PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.08486 0.08486 0.08412 None None None None None None MYH6|0.750925844|7.06%

MYH7

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 eb408_unique 14 rs142034311
dbSNP Clinvar
23885360 127.76 G A VQSRTrancheSNP99.90to100.00 0/1 125 SYNONYMOUS_CODING LOW None None None None None None None MYH7|0.534444038|14.41%

NCOA1

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 eb408_unique 2 rs200358365
dbSNP Clinvar
24881573 482.76 C T PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00008 None None None None None None None

NDUFAF5

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 eb408_unique 20 rs117002283
dbSNP Clinvar
13782194 19622.46 C T PASS 1/1 125 SYNONYMOUS_CODING LOW None 0.01058 0.01058 0.01492 None None None None None None NDUFAF5|0.13966541|44.44%

NID1

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 eb408_unique 1 rs201356535
dbSNP Clinvar
236157033 1362.26 G A PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.00280 0.00280 0.00085 None None None None None None NID1|0.22207718|34.2%

NOD2

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 eb408_unique 16 rs61736932
dbSNP Clinvar
50745655 3387.26 C T PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.00260 0.00260 0.00754 None None None None None None NOD2|0.13707172|44.87%

NPC1

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 eb408_unique 18 . 21140314 127.77 T G VQSRTrancheSNP99.90to100.00 0/1 60 SYNONYMOUS_CODING LOW None None None None None None None NPC1|0.141724211|44.18%

NXNL1

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 eb408_unique 19 rs774177161
dbSNP Clinvar
17571661 329.8 A G PASS 0/1 32 SYNONYMOUS_CODING LOW None None None None None None None NXNL1|0.012564733|78.86%

OBSCN

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 eb408_unique 1 rs373234268
dbSNP Clinvar
228437718 1483.76 C T VQSRTrancheSNP99.00to99.90 0/1 135 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None OBSCN|0.023922951|72.24%

OFD1

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 eb408_unique X rs797045848
dbSNP Clinvar
13785277 256.67 G A VQSRTrancheSNP99.90to100.00 0/1 131 SYNONYMOUS_CODING LOW None None None None None None None OFD1|0.028389991|70.25%
View eb408_unique X rs797045847
dbSNP Clinvar
13785265 361.75 T A VQSRTrancheSNP99.90to100.00 0/1 130 SYNONYMOUS_CODING LOW None None None None None None None OFD1|0.028389991|70.25%

OLFM2

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 eb408_unique 19 rs139281596
dbSNP Clinvar
9964925 490.73 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00085 None None None None None None OLFM2|0.106406338|49.88%

PHGDH

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 eb408_unique 1 rs144484007
dbSNP Clinvar
120284469 1870.26 G A PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.00100 None None None None None None PHGDH|0.31763453|26.26%

PKD1L1

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 eb408_unique 7 rs112879160
dbSNP Clinvar
47876597 4535.53 C T PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.00100 None None None None None None None

PLCD1

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 eb408_unique 3 rs377129531
dbSNP Clinvar
38051536 4786.26 G A PASS 0/1 242 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None PLCD1|0.066217156|58.32%

PRKAA2

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 eb408_unique 1 rs17848596
dbSNP Clinvar
57158150 13555.86 C T PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.09305 0.09305 0.04675 None None None None None None PRKAA2|0.348711913|24.24%

PTPN13

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 eb408_unique 4 rs117036750
dbSNP Clinvar
87696461 4652.3 G A PASS 0/1 179 SYNONYMOUS_CODING LOW None 0.00280 0.00280 0.00017 None None None None None None PTPN13|0.502344543|15.74%

PTPN14

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb408_unique 1 rs114986084
dbSNP Clinvar
214556810 254.32 C T PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.00439 0.00439 0.01215 None None None None None None PTPN14|0.27893907|29.21%

RIMS3

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 eb408_unique 1 rs139978373
dbSNP Clinvar
41101668 1341.76 C A PASS 0/1 182 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None RIMS3|0.275934305|29.46%

SCNN1G

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 eb408_unique 16 rs62639702
dbSNP Clinvar
23200809 1811.26 C T PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.00599 0.00599 0.00824 None None None None None None SCNN1G|0.110085154|49.19%

SEMA4G

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb408_unique 10 rs74154244
dbSNP Clinvar
102738084 1039.76 C T PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.01577 0.01577 0.01499 None None None None None None MRPL43|0.129764322|45.91%,SEMA4G|0.160774225|41.43%

SLC19A3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb408_unique 2 rs142837989
dbSNP Clinvar
228564122 1829.78 C T PASS 0/1 174 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00500 None None None None None None SLC19A3|0.036712256|66.9%

SLC22A14

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 eb408_unique 3 rs114762122
dbSNP Clinvar
38348006 6082.53 C T PASS 0/1 188 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.00454 None None None None None None SLC22A14|0.001081245|95%

SP110

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb408_unique 2 rs115116751
dbSNP Clinvar
231035409 1738.76 C T PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00008 None None None None None None SP110|0.002025481|90.92%

TERT

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 eb408_unique 5 rs190411812
dbSNP Clinvar
1293732 1386.27 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.00160 None None None None None None None

TGFBI

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 eb408_unique 5 rs369362360
dbSNP Clinvar
135383016 1874.26 C T PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.00079 None None None None None None TGFBI|0.999587957|0.3%

TRIO

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb408_unique 5 . 14488048 428.76 G T PASS 0/1 67 SYNONYMOUS_CODING LOW None None None None None None None TRIO|0.326818362|25.7%

TUBGCP4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View eb408_unique 15 rs200092283
dbSNP Clinvar
43695895 3957.29 G T PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00050 None None None None None None TUBGCP4|0.546542388|13.88%

VCAN

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 eb408_unique 5 rs138910265
dbSNP Clinvar
82834948 1496.78 C T PASS 0/1 156 SYNONYMOUS_CODING LOW None 0.00319 0.00320 0.00377 None None None None None None VCAN|0.557826321|13.44%

ZFHX4

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 eb408_unique 8 . 77764275 1425.78 C A PASS 0/1 126 SYNONYMOUS_CODING LOW None None None None None None None ZFHX4|0.941809992|2.42%
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