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Genes at Omim

ABCD4, ATL1, ATXN3, CCDC88C, CHD8, COCH, COQ6, DYNC1H1, ESRRB, FBLN5, FLVCR2, FUT8, GALC, GLRX5, GSTZ1, IFT43, IGHG2, IGHM, INF2, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, PAX9, PCK2, POMT2, PRKCH, PSMA6, PTGDR, RPGRIP1, SEC23A, SIX6, SLC7A7, SPATA7, SPTB, SPTLC2, SYNE2, TSHR, VRK1, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ATL1 Neuropathy, hereditary sensory, type ID, 613708 (3)
Spastic paraplegia 3A, autosomal dominant, 182600 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
COCH Deafness, autosomal dominant 9, 601369 (3)
?Deafness, autosomal recessive 110, 618094 (3)
COQ6 Coenzyme Q10 deficiency, primary, 6, 614650 (3)
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
ESRRB Deafness, autosomal recessive 35, 608565 (3)
FBLN5 Cutis laxa, autosomal dominant 2, 614434 (3)
Cutis laxa, autosomal recessive, type IA, 219100 (3)
Macular degeneration, age-related, 3, 608895 (3)
Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FLVCR2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC Krabbe disease, 245200 (3)
GLRX5 Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3)
Spasticity, childhood-onset, with hyperglycinemia, 616859 (3)
GSTZ1 [Maleylacetoacetate isomerase deficiency], 617596 (3)
IFT43 ?Cranioectodermal dysplasia 3, 614099 (3)
?Retinitis pigmentosa 81, 617871 (3)
Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3)
IGHG2 IgG2 deficiency, selective (3)
IGHM Agammaglobulinemia 1, 601495 (3)
INF2 Glomerulosclerosis, focal segmental, 5, 613237 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
L2HGDH L-2-hydroxyglutaric aciduria, 236792 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
Colorectal cancer, somatic, 114500 (3)
{Endometrial cancer, susceptibility to}, 608089 (3)
MMP14 ?Winchester syndrome, 277950 (3)
MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (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)
NFKBIA Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
PAX9 Tooth agenesis, selective, 3, 604625 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRKCH {Cerebral infarction, susceptibility to}, 601367 (3)
PSMA6 {Myocardial infarction, susceptibility to}, 608446 (3)
PTGDR {Asthma, susceptibility to, 1}, 607277 (3)
RPGRIP1 Cone-rod dystrophy 13, 608194 (3)
Leber congenital amaurosis 6, 613826 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SIX6 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SPATA7 Leber congenital amaurosis 3, 604232 (3)
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TSHR Hyperthyroidism, familial gestational, 603373 (3)
Hyperthyroidism, nonautoimmune, 609152 (3)
Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
Thyroid adenoma, hyperfunctioning, somatic (3)
Thyroid carcinoma with thyrotoxicosis (3)
VRK1 Pontocerebellar hypoplasia type 1A, 607596 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCD4, ATL1, ATXN3, CCDC88C, CHD8, COCH, COQ6, DNAAF2, DYNC1H1, ESRRB, FBLN5, FLVCR2, GALC, GLRX5, IFT43, IGHM, INF2, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, PAX9, POMT2, RPGRIP1, SEC23A, SERPINA6, SIX6, SLC7A7, SPATA7, SPTB, SYNE2, TSHR, VRK1, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
ATL1 Neuropathy, hereditary sensory, type 1D
Spastic paraplegia 3, autosomal dominant
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
CCDC88C Spinocerebellar ataxia 40
CHD8 Autism, susceptibility to 18
COCH Deafness, autosomal dominant 9
COQ6 Coenzyme Q10 deficiency, primary 6
DNAAF2 Ciliary dyskinesia, primary, 10
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 2O
Mental retardation, autosomal dominant 13
Spinal muscular atrophy, lower extremity, autosomal dominant
ESRRB Deafness, autosomal recessive 35
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
FLVCR2 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
GALC Krabbe disease
GLRX5 Anemia, sideroblastic 3, pyridoxine-refractory
IFT43 Cranioectodermal dysplasia 3
IGHM Agammaglobulinemia 1
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
L2HGDH L-2-hydroxyglutaric aciduria
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MLH3 Colorectal cancer, hereditary nonpolyposis type 7
Endometrial carcinoma
MMP14 Winchester syndrome
MTHFD1 Severe combined immunodeficiency
MYH6 Cardiomyopathy, dilated, 1EE
Cardiomyopathy, familial hypertrophic 14
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NFKBIA Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
PAX9 Tooth agenesis, selective, 3
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
RPGRIP1 Leber congenital amaurosis 6
Cone-rod dystrophy 13
SEC23A Craniolenticulosutural dysplasia
SERPINA6 Corticosteroid-binding globulin deficiency
SIX6 Microphthalmia, isolated, with cataract 2
Optic disc anomalies with retinal and/or macular dystrophy
SLC7A7 Lysinuric protein intolerance
SPATA7 Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TSHR Hyperthyroidism, familial, gestational
Hyperthyroidism, nonautoimmune
Hypothyroidism, congenital, nongoitrous, 1
VRK1 Pontocerebellar hypoplasia type 1A
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 485
Number of Genes: 74

Export to: CSV

ABCD4

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 exome_all 14 rs3742801
dbSNP Clinvar
74759006 0.0 C T PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30724 0.31 0.00 None None None None None None ABCD4|0.201608796|36.57%
View exome_all 14 rs2301345
dbSNP Clinvar
74766352 0.0 A G PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.26258 0.26260 0.29902 None None None None None None ABCD4|0.201608796|36.57%
View exome_all 14 rs4148077
dbSNP Clinvar
74759477 0.0 C T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30747 1.00 0.00 None None None None None None ABCD4|0.201608796|36.57%
View exome_all 14 rs4148078
dbSNP Clinvar
74759301 0.0 G T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.26298 0.26300 0.29925 None None None None None None ABCD4|0.201608796|36.57%

APEX1

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 exome_all 14 rs1130409
dbSNP Clinvar
20925154 0.0 T G PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.37560 0.37560 0.43557 1.00 0.00 None None None None None None APEX1|0.756632015|6.94%

ATL1

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 exome_all 14 rs1060197
dbSNP Clinvar
51057727 0.0 G A PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.82149 0.82150 0.20414 None None None None None None ATL1|0.525719843|14.74%

ATXN3

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 exome_all 14 rs1048755
dbSNP Clinvar
92548785 0.0 C T PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.32508 0.32510 0.27287 0.13 0.08 None None None None None None ATXN3|0.681306976|9.03%
View exome_all 14 rs16999141
dbSNP Clinvar
92549586 0.0 G A PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.56669 0.56670 0.45840 None None None None None None ATXN3|0.681306976|9.03%
View exome_all 14 rs12895357
dbSNP Clinvar
92537354 0.0 C G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.27596 0.27600 0.16262 0.48 0.00 None None None None None None ATXN3|0.681306976|9.03%

BCL2L2-PABPN1

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 exome_all 14 rs2231300
dbSNP Clinvar
23777081 0.0 G A PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.06310 0.06310 0.06529 None None None None None None BCL2L2|0.580284397|12.57%,BCL2L2-PABPN1|0.816191843|5.42%
View exome_all 14 rs910332
dbSNP Clinvar
23777374 0.0 A G PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.99940 0.99940 0.00231 0.54 0.00 None None None None None None BCL2L2|0.580284397|12.57%,BCL2L2-PABPN1|0.816191843|5.42%

BDKRB2

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 exome_all 14 rs5224
dbSNP Clinvar
96707457 0.0 A G PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.85903 0.85900 0.11748 None None None None None None BDKRB2|0.06104553|59.58%

CCDC88C

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 exome_all 14 rs12891713
dbSNP Clinvar
91760522 0.0 C T PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.20268 0.20270 0.21176 None None None None None None CCDC88C|0.052356783|61.96%
View exome_all 14 rs1970912
dbSNP Clinvar
91773568 0.0 T C PASS 0/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.42060 None None None None None None CCDC88C|0.052356783|61.96%
View exome_all 14 rs941920
dbSNP Clinvar
91739081 0.0 A G PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.80591 0.80590 0.07727 0.52 0.00 None None None None None None CCDC88C|0.052356783|61.96%

CDC42BPB

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 exome_all 14 rs8009219
dbSNP Clinvar
103440473 0.0 G C PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.00080 0.00080 0.41173 None None None None None None CDC42BPB|0.042098|65.08%

CHD8

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 exome_all 14 rs8022395
dbSNP Clinvar
21871653 0.0 C T PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.90735 0.90730 0.05903 None None None None None None CHD8|0.616080012|11.24%

CHGA

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 exome_all 14 rs941581
dbSNP Clinvar
93401178 0.0 A G PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.79533 0.79530 0.26915 None None None None None None CHGA|0.117443288|47.87%

CMA1

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 exome_all 14 rs5249
dbSNP Clinvar
24975435 0.0 G T PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.92712 0.92710 0.06951 None None None None None None CMA1|0.012757297|78.68%

COCH

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 exome_all 14 rs1045644
dbSNP Clinvar
31355096 0.0 C G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.41134 0.41130 0.48801 0.61 0.00 None None None None None None COCH|0.517420317|15.09%

COQ6

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 exome_all 14 rs3180946
dbSNP Clinvar
74424938 0.0 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.18490 0.18490 0.30301 None None None None None None COQ6|0.155475963|42.22%,ENTPD5|0.24144342|32.32%
View exome_all 14 rs8500
dbSNP Clinvar
74428445 0.0 G A PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.34545 0.34540 0.38452 0.79 0.00 None None None None None None COQ6|0.155475963|42.22%,ENTPD5|0.24144342|32.32%

DHRS4L2

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 exome_all 14 rs2273946
dbSNP Clinvar
24458162 0.0 G C PASS 0/1 116 MOTIF[MA0095.1:Yy1] LOW None 0.67392 0.67390 0.48408 0.95 0.00 None None None None None None DHRS4L2|0.007168249|83.32%
View exome_all 14 rs2273947
dbSNP Clinvar
24458211 0.0 A T PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.18830 0.18830 0.12815 0.19 0.01 None None None None None None DHRS4L2|0.007168249|83.32%

DIO2

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 exome_all 14 rs225014
dbSNP Clinvar
80669580 0.0 T C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.45807 0.45810 0.38768 0.78 0.00 None None None None None None DIO2|0.575178491|12.81%

DNAAF2

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 exome_all 14 rs2985687
dbSNP Clinvar
50100386 0.0 T C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.48822 0.48820 0.33364 None None None None None None DNAAF2|0.034155944|67.73%
View exome_all 14 rs2985686
dbSNP Clinvar
50100683 0.0 C G PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.55911 0.55910 None None None None None None DNAAF2|0.034155944|67.73%
View exome_all 14 rs2985685
dbSNP Clinvar
50101370 0.0 G A PASS 0/1 202 SYNONYMOUS_CODING LOW None 0.49341 0.49340 0.31475 None None None None None None DNAAF2|0.034155944|67.73%
View exome_all 14 rs2985684
dbSNP Clinvar
50101682 0.0 C G PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.49321 0.49320 0.28662 0.07 0.99 None None None None None None DNAAF2|0.034155944|67.73%

DYNC1H1

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 exome_all 14 rs3818188
dbSNP Clinvar
102446161 0.0 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.20847 0.20850 0.14301 None None None None None None DYNC1H1|0.285436253|28.69%

ESRRB

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 exome_all 14 rs2361293
dbSNP Clinvar
76957887 0.0 T C PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.99281 0.99280 0.00369 None None None None None None ESRRB|0.641778232|10.39%

FBLN5

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 exome_all 14 rs2430347
dbSNP Clinvar
92347680 0.0 A G PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.78494 0.78490 0.24320 None None None None None None FBLN5|0.395983413|21.02%

FLVCR2

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 exome_all 14 rs8011292
dbSNP Clinvar
76045691 0.0 C T PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.17931 0.17930 0.17523 None None None None None None FLVCR2|0.124944666|46.63%

FOXA1

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 exome_all 14 rs7144658
dbSNP Clinvar
38061742 0.0 C T PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.58307 0.58310 0.46131 0.24 0.40 None None None None None None FOXA1|0.734792702|7.51%

FRMD6

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 exome_all 14 rs731715
dbSNP Clinvar
52182081 0.0 T A PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.66953 0.66950 0.29925 None None None None None None FRMD6|0.503792775|15.67%
View exome_all 14 rs2277495
dbSNP Clinvar
52186966 0.0 G A PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.22943 0.22940 0.24781 None None None None None None FRMD6|0.503792775|15.67%

FSCB

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 exome_all 14 rs3825632
dbSNP Clinvar
44974922 0.0 A T PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.44010 0.44010 0.45850 1.00 0.00 None None None None None None FSCB|0.000408542|98.9%
View exome_all 14 rs11621923
dbSNP Clinvar
44974189 0.0 C A PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.00 None None None None None None FSCB|0.000408542|98.9%

FUT8

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 exome_all 14 rs2229677
dbSNP Clinvar
66028446 0.0 A G PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.75679 0.75680 0.30052 None None None None None None FUT8|0.707303354|8.3%

GALC

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 exome_all 14 rs398607
dbSNP Clinvar
88407888 0.0 A G PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.44748 0.44750 0.47761 0.00 0.11 None None None None None None GALC|0.120631717|47.35%
View exome_all 14 rs73312836
dbSNP Clinvar
88459795 0.0 C T PASS 0/1 64 None None None 0.07668 0.07668 0.24 0.00 None None None None None None GALC|0.120631717|47.35%
View exome_all 14 rs421466
dbSNP Clinvar
88407875 0.0 T A PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.03975 None None None None None None GALC|0.120631717|47.35%
View exome_all 14 rs11552556
dbSNP Clinvar
88452945 0.0 G A PASS 0/1 46 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.01438 0.01438 0.03081 None None None None None None GALC|0.120631717|47.35%
View exome_all 14 rs421262
dbSNP Clinvar
88401213 0.0 T C PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.94070 0.94070 0.04052 1.00 0.00 None None None None None None GALC|0.120631717|47.35%
View exome_all 14 rs398076
dbSNP Clinvar
88414211 0.0 G A PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.36661 0.36660 0.40831 None None None None None None GALC|0.120631717|47.35%
View exome_all 14 rs367327
dbSNP Clinvar
88411947 0.0 T C PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.03916 None None None None None None GALC|0.120631717|47.35%

GLRX5

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 exome_all 14 rs11628901
dbSNP Clinvar
96010424 0.0 G A PASS 0/1 20 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.08307 0.08307 0.11656 0.04 0.09 None None None None None None GLRX5|0.032912213|68.2%

GOLGA5

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 exome_all 14 rs1040835
dbSNP Clinvar
93276654 0.0 T C PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.85963 0.85960 0.20375 1.00 0.00 None None None None None None GOLGA5|0.080431498|55.07%

GSTZ1

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 exome_all 14 rs1046428
dbSNP Clinvar
77794283 0.0 T C PASS 1/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.85304 0.85300 0.16246 1.00 0.00 None None None None None None GSTZ1|0.143879324|43.89%

GZMB

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 exome_all 14 rs8192917
dbSNP Clinvar
25102160 0.0 C T PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.68071 0.68070 0.29348 0.34 0.03 None None None None None None GZMB|0.006218713|84.38%

HSP90AA1

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 exome_all 14 rs8005905
dbSNP Clinvar
102568367 0.0 T A PASS 1/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.80112 0.80110 0.18184 0.03 0.00 None None None None None None HSP90AA1|0.855021046|4.54%
View exome_all 14 rs10873531
dbSNP Clinvar
102568296 0.0 G A PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.66454 0.66450 0.30232 None None None None None None HSP90AA1|0.855021046|4.54%
View exome_all 14 rs4947
dbSNP Clinvar
102550803 0.0 G A PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.68451 0.68450 0.32147 None None None None None None HSP90AA1|0.855021046|4.54%

IFT43

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 exome_all 14 rs17783366
dbSNP Clinvar
76543004 0.0 G A PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.16893 0.16890 0.24950 0.29 0.25 None None None None None None IFT43|0.035310574|67.39%

IGHA1

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 exome_all 14 rs17349690
dbSNP Clinvar
106173790 0.0 A G PASS 0/1 129 SYNONYMOUS_CODING LOW None None None None None None None None

IGHG1

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 exome_all 14 rs1045853
dbSNP Clinvar
106208086 0.0 A C PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.26438 0.26440 1.00 0.00 None None None None None None None
View exome_all 14 rs1071803
dbSNP Clinvar
106209119 0.0 T C PASS 1/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.39736 0.39740 0.44157 0.45 0.00 None None None None None None None
View exome_all 14 rs11552998
dbSNP Clinvar
106209340 0.0 T C PASS 1/1 15 SYNONYMOUS_CODING LOW None 0.90635 0.90630 0.09876 None None None None None None None
View exome_all 14 rs12879979
dbSNP Clinvar
106207822 0.0 A G PASS 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None None
View exome_all 14 rs8011686
dbSNP Clinvar
106207843 0.0 T C PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.84225 0.84230 None None None None None None None
View exome_all 14 rs17841087
dbSNP Clinvar
106207933 0.0 G A PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.29992 0.29990 0.46608 None None None None None None None
View exome_all 14 rs11621259
dbSNP Clinvar
106208082 0.0 G T PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.26338 0.26340 0.28 0.06 None None None None None None None

IGHG2

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 exome_all 14 rs4983499
dbSNP Clinvar
106109752 0.0 A C PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.91454 0.91450 0.13359 0.65 0.00 None None None None None None None
View exome_all 14 rs11557955
dbSNP Clinvar
106110966 0.0 C T PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.43670 0.43670 0.42311 None None None None None None None
View exome_all 14 rs28371022
dbSNP Clinvar
106109573 0.0 T C PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.56370 0.56370 0.48644 None None None None None None None

IGHG3

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 exome_all 14 rs2983777
dbSNP Clinvar
106237642 0.0 T G PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.93830 0.93830 None None None None None None None

IGHG4

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 exome_all 14 rs8010914
dbSNP Clinvar
106090927 0.0 G T PASS 1/1 114 SYNONYMOUS_CODING LOW None 0.86801 0.86800 0.11629 None None None None None None None
View exome_all 14 rs12434110
dbSNP Clinvar
106092383 0.0 C G PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.49221 0.49220 None None None None None None None

IGHM

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 exome_all 14 rs1136534
dbSNP Clinvar
106321913 0.0 G A PASS 1/1 177 SYNONYMOUS_CODING LOW None 0.56310 0.56310 0.42788 None None None None None None None
View exome_all 14 rs12365
dbSNP Clinvar
106321590 0.0 C A PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.91494 0.91490 0.09231 0.15 0.22 None None None None None None None

INF2

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 exome_all 14 rs4983530
dbSNP Clinvar
105167807 0.0 C T PASS 1/1 121 SYNONYMOUS_CODING LOW None 0.98662 0.98660 0.01773 0.27 0.63 0.96874 D None None None None INF2|0.011319835|79.76%
View exome_all 14 rs1128840
dbSNP Clinvar
105180706 0.0 A C PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.20967 0.69490 0.35022 None None None None None None INF2|0.011319835|79.76%
View exome_all 14 rs10133301
dbSNP Clinvar
105179194 0.0 T C PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.90935 0.90930 0.11970 None None None None None None INF2|0.011319835|79.76%

JAG2

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 exome_all 14 rs10149229
dbSNP Clinvar
105609335 0.0 A G PASS 0/1 143 SYNONYMOUS_CODING LOW None 0.68990 0.68990 0.26605 None None None None None None JAG2|0.207083459|35.89%
View exome_all 14 rs1057744
dbSNP Clinvar
105617042 0.0 C T PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.52017 0.52020 0.38826 0.20 0.00 None None None None None None JAG2|0.207083459|35.89%
View exome_all 14 rs2272591
dbSNP Clinvar
105611282 0.0 A G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.67672 0.67670 0.28173 None None None None None None JAG2|0.207083459|35.89%

L2HGDH

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 exome_all 14 rs2275591
dbSNP Clinvar
50778816 0.0 A C PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.57268 0.57270 0.43681 0.60 0.00 None None None None None None L2HGDH|0.085412755|54.08%
View exome_all 14 rs2297995
dbSNP Clinvar
50769717 0.0 G A PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.59665 0.59660 0.42573 None None None None None None L2HGDH|0.085412755|54.08%

LGALS3

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 exome_all 14 rs11125
dbSNP Clinvar
55611839 0.0 A T PASS 0/1 50 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04613 0.04613 0.05677 0.01 0.60 None None None None None None LGALS3|0.061083097|59.57%
View exome_all 14 rs4644
dbSNP Clinvar
55604935 0.0 C A PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.29333 0.29330 0.36133 0.00 0.00 None None None None None None LGALS3|0.061083097|59.57%
View exome_all 14 rs4652
dbSNP Clinvar
55605036 0.0 A C PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.56969 0.56970 0.41418 1.00 0.00 None None None None None None LGALS3|0.061083097|59.57%

LRFN5

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 exome_all 14 rs6572117
dbSNP Clinvar
42360633 0.0 T C PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.70527 0.70530 0.29971 None None None None None None LRFN5|0.548984546|13.77%

LTBP2

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 exome_all 14 rs7145480
dbSNP Clinvar
74988687 0.0 G A PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.01278 0.01278 0.02491 None None None None None None LTBP2|0.184719306|38.39%

MLH3

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 exome_all 14 rs175081
dbSNP Clinvar
75513883 0.0 T C PASS 1/1 253 NON_SYNONYMOUS_CODING MODERATE None 0.99042 0.99040 0.01123 0.20 0.00 None None None None None None MLH3|0.168045017|40.57%
View exome_all 14 rs175080
dbSNP Clinvar
75513828 0.0 G A PASS 1/1 236 NON_SYNONYMOUS_CODING MODERATE None 0.36382 0.36380 0.44264 0.18 0.01 None None None None None None MLH3|0.168045017|40.57%

MMP14

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 exome_all 14 rs2236307
dbSNP Clinvar
23312923 0.0 T C PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.27157 0.27160 0.24289 None None None None None None MMP14|0.684453426|8.96%
View exome_all 14 rs1042703
dbSNP Clinvar
23306048 0.0 C T PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.86761 0.86760 0.16551 1.00 0.00 None None None None None None MMP14|0.684453426|8.96%
View exome_all 14 rs1042704
dbSNP Clinvar
23312594 0.0 G A PASS 0/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.10982 0.10980 0.14947 0.18 0.43 None None None None None None MMP14|0.684453426|8.96%

MTHFD1

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 exome_all 14 rs1076991
dbSNP Clinvar
64855041 0.0 T C PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.52516 0.52520 0.04 0.02 None None None None None None MTHFD1|0.098899364|51.37%
View exome_all 14 rs1950902
dbSNP Clinvar
64882380 0.0 A G PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.82348 0.82350 0.16846 1.00 1.00 None None None None None None MTHFD1|0.098899364|51.37%

MYH6

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 exome_all 14 rs61742476
dbSNP Clinvar
23855645 0.0 A G PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.04872 0.04872 0.01545 1.00 0.00 None None None None None None MYH6|0.750925844|7.06%
View exome_all 14 rs17091278
dbSNP Clinvar
23852497 0.0 T C PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.08486 0.08486 0.08412 None None None None None None MYH6|0.750925844|7.06%
View exome_all 14 rs34855944
dbSNP Clinvar
23856861 0.0 C T PASS 0/1 37 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03255 0.03255 0.02891 None None None None None None MYH6|0.750925844|7.06%
View exome_all 14 rs45574136
dbSNP Clinvar
23855705 0.0 T A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.04912 0.04912 0.02153 0.35 0.00 None None None None None None MYH6|0.750925844|7.06%

MYH7

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 exome_all 14 rs2069540
dbSNP Clinvar
23902753 0.0 G A PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.52037 0.52040 0.47247 None None None None None None MYH7|0.534444038|14.41%

NFATC4

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 exome_all 14 rs2229309
dbSNP Clinvar
24839083 0.0 G C PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.28035 0.28040 0.44597 1.00 0.00 None None None None None None NFATC4|0.294227779|28.1%
View exome_all 14 rs7149586
dbSNP Clinvar
24845841 0.0 T C PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.35803 0.35800 0.46056 0.43 0.00 None None None None None None NFATC4|0.294227779|28.1%
View exome_all 14 rs2295298
dbSNP Clinvar
24843620 0.0 T C PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.28455 0.28450 0.45318 None None None None None None NFATC4|0.294227779|28.1%

NFKBIA

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 exome_all 14 rs1050851
dbSNP Clinvar
35872926 0.0 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.10164 0.10160 0.17077 None None None None None None NFKBIA|0.951198752|2.23%

PARP2

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 exome_all 14 rs3093930
dbSNP Clinvar
20824181 0.0 T C PASS 1/1 22 SYNONYMOUS_CODING LOW None 0.51058 0.51060 0.42908 None None None None None None PARP2|0.385543566|21.7%