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Genes at Omim

A4GALT, ACO2, ALG12, APOL1, BCR, CRYBB2, CSF2RB, CYB5R3, CYP2D6, DGCR2, FBLN1, LARGE, MKL1, MYH9, NAGA, NEFH, PRODH, RAC2, SCARF2, SCO2, SLC5A1, SNAP29, SOX10, TBX1, TIMP3, TMPRSS6, TRIOBP, TUBGCP6, TXNRD2,
A4GALT NOR polyagglutination syndrome, 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2 Infantile cerebellar-retinal degeneration, 614559 (3)
?Optic atrophy 9, 616289 (3)
ALG12 Congenital disorder of glycosylation, type Ig, 607143 (3)
APOL1 {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
CRYBB2 Cataract 3, multiple types, 601547 (3)
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYB5R3 Methemoglobinemia, type I, 250800 (3)
Methemoglobinemia, type II, 250800 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DGCR2 DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
MKL1 Megakaryoblastic leukemia, acute (3)
MYH9 Deafness, autosomal dominant 17, 603622 (3)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
NAGA Kanzaki disease, 609242 (3)
Schindler disease, type I, 609241 (3)
Schindler disease, type III, 609241 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PRODH {Schizophrenia, susceptibility to, 4}, 600850 (3)
Hyperprolinemia, type I, 239500 (3)
RAC2 Neutrophil immunodeficiency syndrome, 608203 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Myopia 6, 608908 (3)
SLC5A1 Glucose/galactose malabsorption, 606824 (3)
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
TBX1 Conotruncal anomaly face syndrome, 217095 (3)
DiGeorge syndrome, 188400 (3)
Tetralogy of Fallot, 187500 (3)
Velocardiofacial syndrome, 192430 (3)
TIMP3 Sorsby fundus dystrophy, 136900 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2 ?Glucocorticoid deficiency 5, 617825 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ALG12, BCR, CRYBB2, CSF2RB, CYB5R3, CYP2D6, DGCR2, FBLN1, LARGE, MYH9, NAGA, NEFH, PRODH, RAC2, SCARF2, SCO2, SERPIND1, SLC5A1, SNAP29, SOX10, TBX1, TIMP3, TMPRSS6, TRIOBP, TUBGCP6, UPK3A,
A4GALT Blood group, P system
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ALG12 Congenital disorder of glycosylation, type Ig
BCR CML treatment, response to
CRYBB2 Cataract, sutural, with punctate and cerulean opacities
Cataract, Coppock-like
Cataract, congenital, cerulean type, 2
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5
CYB5R3 Methemoglobinemia due to methemoglobin reductase deficiency
CYP2D6 Drug metabolism, CYP2CD6-related
DGCR2 Schizophrenia
FBLN1 Synpolydactyly 2
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
MYH9 Sebastian syndrome
May-Hegglin anomaly
Fechtner syndrome
Epstein syndrome
Macrothrombocytopenia and progressive sensorineural deafness
NAGA Kanzaki disease
Alpha-n-acetylgalactosaminidase deficiency
Schindler disease type I
Schindler disease type III
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
PRODH Hyperprolinemia, type I
RAC2 Neutrophil immunodeficiency syndrome
SCARF2 Van den Ende-Gupta syndrome
SCO2 Myopia 6
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
SERPIND1 Heparin cofactor II deficiency
SLC5A1 Glucose/galactose malabsorption
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
TBX1 Conotruncal anomaly face syndrome
Tetralogy of Fallot
TIMP3 Sorsby fundus dystrophy
TMPRSS6 Iron-refractory iron deficiency anemia
TRIOBP Deafness, autosomal recessive 28
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
UPK3A Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 57
Number of Genes: 41

Export to: CSV
  • Page 1 of 1

A4GALT

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 vqsr_snp_indel hc recaled 22 rs6002904
dbSNP Clinvar
43089055 833.77 G C PASS 0/1 87 SYNONYMOUS_CODING LOW SILENT 0.69529 0.69530 0.34674 None None None None None None A4GALT|0.02220674|73.08%
View vqsr_snp_indel hc recaled 22 rs9623659
dbSNP Clinvar
43088971 2153.77 C T PASS 0/1 160 SYNONYMOUS_CODING LOW SILENT 0.34904 0.34900 0.40420 None None None None None None A4GALT|0.02220674|73.08%

ACO2

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 vqsr_snp_indel hc recaled 22 rs137831
dbSNP Clinvar
41903813 755.77 A C PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.41833 0.41830 0.25796 None None None None None None ACO2|0.657906877|9.8%
View vqsr_snp_indel hc recaled 22 rs1799932
dbSNP Clinvar
41911525 864.77 C T PASS 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.27037 0.27040 0.38375 None None None None None None ACO2|0.657906877|9.8%

ADORA2A

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 vqsr_snp_indel hc recaled 22 rs5751876
dbSNP Clinvar
24837301 575.77 T C PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.44229 0.44230 0.48193 None None None None None None ADORA2A|0.246666916|31.87%

ALG12

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 vqsr_snp_indel hc recaled 22 rs8135963
dbSNP Clinvar
50301476 2866.77 T C PASS 0/1 265 SYNONYMOUS_CODING LOW SILENT 0.40216 0.40220 0.38336 None None None None None None ALG12|0.005312033|85.41%

APOBEC3H

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 vqsr_snp_indel hc recaled 22 rs139294
dbSNP Clinvar
39496412 3972.77 G C PASS 1/1 103 SYNONYMOUS_CODING LOW SILENT 0.51478 0.51480 0.43995 None None None None None None APOBEC3H|0.000715686|97.18%

APOL1

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 vqsr_snp_indel hc recaled 22 rs136177
dbSNP Clinvar
36661842 11382.77 G A PASS 1/1 331 SYNONYMOUS_CODING LOW SILENT 0.85324 0.85320 0.16023 None None None None None None APOL1|0.000329557|99.31%
View vqsr_snp_indel hc recaled 22 rs136174
dbSNP Clinvar
36661536 12980.77 C A PASS 1/1 358 SYNONYMOUS_CODING LOW SILENT 0.86422 0.86420 0.15324 None None None None None None APOL1|0.000329557|99.31%

APOL3

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 vqsr_snp_indel hc recaled 22 rs132618
dbSNP Clinvar
36537500 1302.77 A T PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.36262 0.36260 0.36506 None None None None None None APOL3|0.000202491|99.75%

BCR

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 vqsr_snp_indel hc recaled 22 rs73152683
dbSNP Clinvar
23657664 2212.77 C T PASS 0/1 172 SYNONYMOUS_CODING LOW SILENT 0.00140 0.00140 0.00392 None None None None None None BCR|0.805888971|5.65%
View vqsr_snp_indel hc recaled 22 rs5751602
dbSNP Clinvar
23523630 1450.77 C A PASS 0/1 109 SYNONYMOUS_CODING LOW SILENT 0.29153 0.29150 0.25578 None None None None None None BCR|0.805888971|5.65%

CABIN1

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 vqsr_snp_indel hc recaled 22 rs762273
dbSNP Clinvar
24459438 18547.77 T C PASS 1/1 566 SYNONYMOUS_CODING LOW SILENT 0.93231 0.93230 0.04475 None None None None None None CABIN1|0.222656185|34.11%
View vqsr_snp_indel hc recaled 22 rs17854875
dbSNP Clinvar
24564477 54.77 C T PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT 0.07208 0.07208 0.06519 None None None None None None CABIN1|0.222656185|34.11%

CELSR1

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 vqsr_snp_indel hc recaled 22 rs1009154
dbSNP Clinvar
46931793 1803.77 G C PASS 1/1 46 SYNONYMOUS_CODING LOW SILENT 0.93990 0.93990 0.08032 None None None None None None CELSR1|0.033878373|67.81%
View vqsr_snp_indel hc recaled 22 rs1009155
dbSNP Clinvar
46931838 1294.77 G A PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.88658 0.88660 0.13939 None None None None None None CELSR1|0.033878373|67.81%
View vqsr_snp_indel hc recaled 22 rs56325154
dbSNP Clinvar
46762360 107.77 G A PASS 0/1 6 SYNONYMOUS_CODING LOW SILENT 0.01118 0.01118 0.00810 None None None None None None CELSR1|0.033878373|67.81%

CLTCL1

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 vqsr_snp_indel hc recaled 22 rs698423
dbSNP Clinvar
19197896 4275.77 T C PASS 0/1 328 SYNONYMOUS_CODING LOW SILENT 0.84804 0.84800 0.26837 None None None None None None CLTCL1|0.022666116|72.86%

CRYBB2

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 vqsr_snp_indel hc recaled 22 rs8140949
dbSNP Clinvar
25627604 8826.77 G A PASS 1/1 268 SYNONYMOUS_CODING LOW SILENT 0.33027 0.33030 0.23328 None None None None None None CRYBB2|0.113636707|48.55%

CSF2RB

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 vqsr_snp_indel hc recaled 22 rs16846
dbSNP Clinvar
37325833 463.77 C T PASS 0/1 39 SYNONYMOUS_CODING LOW SILENT 0.03734 0.03734 0.05237 None None None None None None CSF2RB|0.002608786|89.46%

CYB5R3

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 vqsr_snp_indel hc recaled 22 rs5996200
dbSNP Clinvar
43032742 686.77 C T PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.07368 0.07368 0.13978 None None None None None None CYB5R3|0.035531313|67.3%

CYP2D6

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 vqsr_snp_indel hc recaled 22 rs1058164
dbSNP Clinvar
42525132 373.77 G C PASS 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.40096 0.40100 0.39288 None None None None None None CYP2D6|0.040319287|65.66%

DGCR14

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 vqsr_snp_indel hc recaled 22 rs2240111
dbSNP Clinvar
19122665 1490.77 C T PASS 0/1 122 SYNONYMOUS_CODING LOW SILENT 0.16613 0.16610 0.17238 None None None None None None DGCR14|0.102847984|50.63%
View vqsr_snp_indel hc recaled 22 rs2298274
dbSNP Clinvar
19132061 368.77 C T PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.08107 0.08107 0.06437 None None None None None None DGCR14|0.102847984|50.63%

DGCR2

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 vqsr_snp_indel hc recaled 22 rs73157286
dbSNP Clinvar
19028782 1343.77 C T PASS 0/1 154 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 0.00031 None None None None None None DGCR2|0.179066592|39.12%

FBLN1

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 vqsr_snp_indel hc recaled 22 rs9682
dbSNP Clinvar
45937149 4556.77 C T PASS 0/1 326 SYNONYMOUS_CODING LOW SILENT 0.26218 0.26220 0.36076 None None None None None None FBLN1|0.107064259|49.78%

GAL3ST1

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 vqsr_snp_indel hc recaled 22 rs151244258
dbSNP Clinvar
30952008 256.77 C G PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT None None None None None None GAL3ST1|0.040851937|65.48%

LARGE

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 vqsr_snp_indel hc recaled 22 rs86487
dbSNP Clinvar
34022284 2822.77 G A PASS 0/1 215 SYNONYMOUS_CODING LOW SILENT 0.41294 0.41290 0.37521 None None None None None None LARGE|0.874823317|4.11%

MCHR1

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 vqsr_snp_indel hc recaled 22 rs133073
dbSNP Clinvar
41075695 3125.77 C T PASS 0/1 233 SYNONYMOUS_CODING LOW SILENT 0.61761 0.61760 0.39997 None None None None None None MCHR1|0.259675515|30.77%

MKL1

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 vqsr_snp_indel hc recaled 22 rs4821944
dbSNP Clinvar
40814636 143.77 C T PASS 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.19629 0.19630 0.24617 None None None None None None MKL1|0.151459209|42.76%

MYH9

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 vqsr_snp_indel hc recaled 22 rs9619601
dbSNP Clinvar
36700175 2205.77 A G PASS 0/1 179 SYNONYMOUS_CODING LOW SILENT 0.06030 0.06030 0.04483 None None None None None None MYH9|0.668562251|9.42%
View vqsr_snp_indel hc recaled 22 rs710181
dbSNP Clinvar
36691607 2891.77 A C PASS 1/1 88 SYNONYMOUS_CODING LOW SILENT 0.98263 0.98260 0.02876 None None None None None None MYH9|0.668562251|9.42%

NAGA

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 vqsr_snp_indel hc recaled 22 rs133369
dbSNP Clinvar
42463814 12498.77 C T PASS 1/1 328 SYNONYMOUS_CODING LOW SILENT 0.67692 0.67690 0.35745 None None None None None None NAGA|0.05645506|60.79%

NEFH

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 vqsr_snp_indel hc recaled 22 rs165625
dbSNP Clinvar
29886413 1130.77 A G PASS 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.85044 0.85040 0.19914 None None None None None None NEFH|0.345641231|24.44%
View vqsr_snp_indel hc recaled 22 rs165923
dbSNP Clinvar
29885861 3732.77 T C PASS 0/1 285 SYNONYMOUS_CODING LOW SILENT 0.81829 0.81830 0.19968 None None None None None None NEFH|0.345641231|24.44%

PRODH

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 vqsr_snp_indel hc recaled 22 rs1808320
dbSNP Clinvar
18908875 312.77 A G PASS 1/1 11 SYNONYMOUS_CODING LOW SILENT 0.73143 0.73140 0.33549 None None None None None None PRODH|0.133392589|45.38%

RAC2

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 vqsr_snp_indel hc recaled 22 rs2239774
dbSNP Clinvar
37637653 5425.77 G C PASS 0/1 526 SYNONYMOUS_CODING LOW SILENT 0.18970 0.18970 0.15639 None None None None None None RAC2|0.602833016|11.7%

SCARF2

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 vqsr_snp_indel hc recaled 22 rs759609
dbSNP Clinvar
20780097 152.03 G C PASS 1/1 4 SYNONYMOUS_CODING LOW SILENT 0.03126 None None None None None None SCARF2|0.028538046|70.17%
View vqsr_snp_indel hc recaled 22 rs759610
dbSNP Clinvar
20780091 152.03 C G PASS 1/1 4 SYNONYMOUS_CODING LOW SILENT 0.01922 None None None None None None SCARF2|0.028538046|70.17%

SCO2

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 vqsr_snp_indel hc recaled 22 rs12148
dbSNP Clinvar
50962208 7042.77 T G PASS 0/1 572 SYNONYMOUS_CODING LOW SILENT 0.65555 0.65560 0.36491 None None None None None None SCO2|0.018303737|75.1%

SERPIND1

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 vqsr_snp_indel hc recaled 22 rs4675
dbSNP Clinvar
21141300 1798.77 T C PASS 0/1 139 SYNONYMOUS_CODING LOW SILENT 0.52157 0.52160 0.49516 None None None None None None PI4KA|0.213566628|35.17%,SERPIND1|0.031274264|68.88%

SLC5A1

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 vqsr_snp_indel hc recaled 22 rs33973317
dbSNP Clinvar
32439274 642.77 C T PASS 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.01398 0.01398 0.00907 None None None None None None SLC5A1|0.159270684|41.69%

SNAP29

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 vqsr_snp_indel hc recaled 22 rs1061064
dbSNP Clinvar
21213416 191.77 A G PASS 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.40355 0.40360 0.41655 None None None None None None PI4KA|0.213566628|35.17%,SNAP29|0.054406719|61.36%

SOX10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View vqsr_snp_indel hc recaled 22 rs139884
dbSNP Clinvar
38369976 1941.77 A G PASS 0/1 143 SYNONYMOUS_CODING LOW SILENT 0.71326 0.71330 0.30417 None None None None None None POLR2F|0.453573676|18%,SOX10|0.9286365|2.77%

TBX1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View vqsr_snp_indel hc recaled 22 rs41298814
dbSNP Clinvar
19750773 2743.77 T C PASS 0/1 154 SYNONYMOUS_CODING LOW SILENT 0.22824 0.22820 0.16423 None None None None None None TBX1|0.837458407|4.92%

TIMP3

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 vqsr_snp_indel hc recaled 22 rs9862
dbSNP Clinvar
33253280 8914.77 T C PASS 1/1 249 SYNONYMOUS_CODING LOW SILENT 0.65096 0.65100 0.38728 None None None None None None SYN3|0.336782682|25.03%,TIMP3|0.897603847|3.48%

TMPRSS6

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 vqsr_snp_indel hc recaled 22 rs11704654
dbSNP Clinvar
37499386 2287.77 C T PASS 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.15156 0.15160 0.17869 None None None None None None TMPRSS6|0.081924937|54.76%
View vqsr_snp_indel hc recaled 22 rs881144
dbSNP Clinvar
37471290 1674.77 G A PASS 0/1 140 SYNONYMOUS_CODING LOW SILENT 0.04533 0.04533 0.08696 None None None None None None TMPRSS6|0.081924937|54.76%
View vqsr_snp_indel hc recaled 22 rs4820268
dbSNP Clinvar
37469591 4725.77 G A PASS 0/1 348 SYNONYMOUS_CODING LOW SILENT 0.54353 0.54350 0.39513 None None None None None None TMPRSS6|0.081924937|54.76%

TRIOBP

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 vqsr_snp_indel hc recaled 22 rs7284476
dbSNP Clinvar
38129332 137.77 G A PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT 0.33726 0.33730 0.35026 None None None None None None TRIOBP|0.083019472|54.57%
View vqsr_snp_indel hc recaled 22 rs739137
dbSNP Clinvar
38122448 100.77 C T PASS 0/1 6 SYNONYMOUS_CODING LOW SILENT 0.33666 0.33670 0.34194 None None None None None None TRIOBP|0.083019472|54.57%
View vqsr_snp_indel hc recaled 22 rs11704996
dbSNP Clinvar
38151170 1183.77 G A PASS 0/1 113 SYNONYMOUS_CODING LOW SILENT 0.03954 0.03954 0.05467 None None None None None None TRIOBP|0.083019472|54.57%
View vqsr_snp_indel hc recaled 22 rs4821708
dbSNP Clinvar
38164106 1141.77 C T PASS 0/1 90 SYNONYMOUS_CODING LOW SILENT 0.26478 0.26480 0.23142 None None None None None None TRIOBP|0.083019472|54.57%

TTLL1

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 vqsr_snp_indel hc recaled 22 rs9607998
dbSNP Clinvar
43447891 4204.77 C T PASS 0/1 343 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.01558 0.01558 0.03575 None None None None None None TTLL1|0.081436342|54.9%

TUBGCP6

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 vqsr_snp_indel hc recaled 22 rs5771270
dbSNP Clinvar
50682865 679.77 G A PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.28155 0.28150 0.30463 None None None None None None TUBGCP6|0.014651762|77.41%

TXNRD2

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 vqsr_snp_indel hc recaled 22 rs5748470
dbSNP Clinvar
19907118 296.77 G A PASS 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.59685 0.59680 0.45377 None None None None None None TXNRD2|0.02395977|72.21%

UPK3A

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 vqsr_snp_indel hc recaled 22 rs2673088
dbSNP Clinvar
45683246 2327.77 C T PASS 1/1 69 SYNONYMOUS_CODING LOW SILENT 0.54812 0.54810 0.38813 None None None None None None UPK3A|0.052352259|61.97%
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