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Genes at Omim

ABCD4, ATL1, ATXN3, BMP4, CCDC88C, CHD8, COCH, COQ6, DYNC1H1, ESRRB, FBLN5, FUT8, GALC, GPHN, GPR68, GSTZ1, IFT43, IGHG2, IGHM, INF2, LTBP2, MGAT2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, NKX2-1, PCK2, POMT2, PRKCH, PSEN1, PTGDR, RDH12, RPGRIP1, SEC23A, SERPINA1, SERPINA3, SIX6, SLC7A7, SMOC1, SPTB, SPTLC2, SYNE2, TGM1, TRIP11, TSHR, XRCC3, 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)
BMP4 Microphthalmia, syndromic 6, 607932 (3)
Orofacial cleft 11, 600625 (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)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC Krabbe disease, 245200 (3)
GPHN Molybdenum cofactor deficiency C, 615501 (3)
GPR68 Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (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)
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)
MGAT2 Congenital disorder of glycosylation, type IIa, 212066 (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)
NKX2-1 Chorea, hereditary benign, 118700 (3)
Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3)
{Thyroid cancer, nonmedullary, 1}, 188550 (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)
PSEN1 Alzheimer disease, type 3, 607822 (3)
Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3)
Cardiomyopathy, dilated, 1U, 613694 (3)
Dementia, frontotemporal, 600274 (3)
Pick disease, 172700 (3)
?Acne inversa, familial, 3, 613737 (3)
PTGDR {Asthma, susceptibility to, 1}, 607277 (3)
RDH12 Leber congenital amaurosis 13, 612712 (3)
RPGRIP1 Cone-rod dystrophy 13, 608194 (3)
Leber congenital amaurosis 6, 613826 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SERPINA1 Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)
Emphysema due to AAT deficiency, 613490 (3)
Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
SERPINA3 Alpha-1-antichymotrypsin deficiency (3)
Cerebrovascular disease, occlusive (3)
SIX6 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SMOC1 Microphthalmia with limb anomalies, 206920 (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)
TGM1 Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
TRIP11 Achondrogenesis, type IA, 200600 (3)
Osteochondrodysplasia, 184260 (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)
XRCC3 {Melanoma, cutaneous malignant, 6}, 613972 (3)
{Breast cancer, susceptibility to}, 114480 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCD4, ATL1, ATXN3, BMP4, CCDC88C, CHD8, COCH, COQ6, DNAAF2, DYNC1H1, ESRRB, FBLN5, GALC, GPHN, IFT43, IGHM, INF2, LTBP2, MGAT2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, NKX2-1, POMT2, PSEN1, RDH12, RPGRIP1, SEC23A, SERPINA1, SERPINA6, SIX6, SLC7A7, SMOC1, SPTB, SYNE2, TGM1, TRIP11, TSHR, 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)
BMP4 Microphthalmia, syndromic 6
Orofacial cleft 11
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
GALC Krabbe disease
GPHN Hyperekplexia, autosomal dominant
Molybdenum cofactor deficiency, type C
IFT43 Cranioectodermal dysplasia 3
IGHM Agammaglobulinemia 1
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MGAT2 Congenital disorder of glycosylation, type IIa
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
NKX2-1 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Thyroid cancer, nonmedullary 1
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
PSEN1 Cardiomyopathy, dilated 1U
RDH12 Leber congenital amaurosis 13
Retinitis pigmentosa 53
RPGRIP1 Leber congenital amaurosis 6
Cone-rod dystrophy 13
SEC23A Craniolenticulosutural dysplasia
SERPINA1 Alpha-1-Antitrypsin deficiency
SERPINA6 Corticosteroid-binding globulin deficiency
SIX6 Microphthalmia, isolated, with cataract 2
Optic disc anomalies with retinal and/or macular dystrophy
SLC7A7 Lysinuric protein intolerance
SMOC1 Microphthalmia with limb anomalies
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TGM1 Ichthyosis, congenital, autosomal recessive 1
TRIP11 Achondrogenesis, type IA
TSHR Hyperthyroidism, familial, gestational
Hyperthyroidism, nonautoimmune
Hypothyroidism, congenital, nongoitrous, 1
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 193
Number of Genes: 81

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 chu17257-cha-zoe_s2 14 rs4148078
dbSNP Clinvar
74759301 2760.43 G T PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.26298 0.26300 0.29925 None None None None None None ABCD4|0.201608796|36.57%
View chu17257-cha-zoe_s2 14 rs3742801
dbSNP Clinvar
74759006 2487.43 C T PASS 1/1 84 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 chu17257-cha-zoe_s2 14 rs4148077
dbSNP Clinvar
74759477 3581.2 C T PASS 1/1 119 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 chu17257-cha-zoe_s2 14 rs2301345
dbSNP Clinvar
74766352 1311.95 A G PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.26258 0.26260 0.29902 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 chu17257-cha-zoe_s2 14 rs1130409
dbSNP Clinvar
20925154 328.96 T G PASS 0/1 31 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 chu17257-cha-zoe_s2 14 rs1060197
dbSNP Clinvar
51057727 1713.15 G A PASS 1/1 59 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 chu17257-cha-zoe_s2 14 rs1048755
dbSNP Clinvar
92548785 1277.59 C T PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.32508 0.32510 0.27287 0.13 0.04 None None None None None None ATXN3|0.681306976|9.03%
View chu17257-cha-zoe_s2 14 rs16999141
dbSNP Clinvar
92549586 473.29 G A PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.56669 0.56670 0.45840 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 chu17257-cha-zoe_s2 14 rs2231301
dbSNP Clinvar
23777099 1223.49 G A PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.24900 0.24900 0.17871 None None None None None None BCL2L2|0.580284397|12.57%,BCL2L2-PABPN1|0.816191843|5.42%
View chu17257-cha-zoe_s2 14 rs910332
dbSNP Clinvar
23777374 2059.86 A G PASS 1/1 70 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 chu17257-cha-zoe_s2 14 rs1046248
dbSNP Clinvar
96703484 1449.85 C T PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.04253 0.04253 0.08173 0.16 0.14 None None None None None None BDKRB2|0.06104553|59.58%
View chu17257-cha-zoe_s2 14 rs5224
dbSNP Clinvar
96707457 730.36 A G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.85903 0.85900 0.11748 None None None None None None BDKRB2|0.06104553|59.58%

BMP4

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 chu17257-cha-zoe_s2 14 rs17563
dbSNP Clinvar
54417522 1263.86 A G PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.32568 0.32570 0.45002 0.72 0.01 None None None None None None BMP4|0.999824824|0.22%

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 chu17257-cha-zoe_s2 14 rs183646530
dbSNP Clinvar
91766410 1200.81 C T PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00087 0.48 0.00 None None None None None None CCDC88C|0.052356783|61.96%
View chu17257-cha-zoe_s2 14 rs1970911
dbSNP Clinvar
91773494 887.03 G A PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.16633 0.16630 0.12268 0.59 0.00 None None None None None None CCDC88C|0.052356783|61.96%
View chu17257-cha-zoe_s2 14 rs941920
dbSNP Clinvar
91739081 882.45 A G PASS 0/1 78 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 chu17257-cha-zoe_s2 14 rs8009219
dbSNP Clinvar
103440473 2581.4 G C PASS 1/1 78 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 chu17257-cha-zoe_s2 14 rs8022395
dbSNP Clinvar
21871653 2528.93 C T PASS 1/1 84 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 chu17257-cha-zoe_s2 14 rs941581
dbSNP Clinvar
93401178 2096.11 A G PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.79533 0.79530 0.26915 None None None None None None CHGA|0.117443288|47.87%
View chu17257-cha-zoe_s2 14 rs9658664
dbSNP Clinvar
93398849 271.84 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.01338 0.01338 0.00599 0.12 0.13 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 chu17257-cha-zoe_s2 14 rs5249
dbSNP Clinvar
24975435 1578.68 G T PASS 1/1 53 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 chu17257-cha-zoe_s2 14 rs1045644
dbSNP Clinvar
31355096 1724.69 C G PASS 0/1 120 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 chu17257-cha-zoe_s2 14 rs8500
dbSNP Clinvar
74428445 1215.37 G A PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.34545 0.34540 0.38452 0.79 0.01 None None None None None None COQ6|0.155475963|42.22%,ENTPD5|0.24144342|32.32%
View chu17257-cha-zoe_s2 14 rs3180946
dbSNP Clinvar
74424938 741.97 T C PASS 0/1 78 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%

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 chu17257-cha-zoe_s2 14 rs225014
dbSNP Clinvar
80669580 991.14 T C PASS 0/1 61 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 chu17257-cha-zoe_s2 14 rs2985685
dbSNP Clinvar
50101370 3771.31 G A PASS 1/1 140 SYNONYMOUS_CODING LOW None 0.49341 0.49340 0.31475 None None None None None None DNAAF2|0.034155944|67.73%
View chu17257-cha-zoe_s2 14 rs2985684
dbSNP Clinvar
50101682 2983.11 C G PASS 1/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.49321 0.49320 0.28662 0.07 0.57 None None None None None None DNAAF2|0.034155944|67.73%
View chu17257-cha-zoe_s2 14 rs2985687
dbSNP Clinvar
50100386 3968.5 T C PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.48822 0.48820 0.33364 None None None None None None DNAAF2|0.034155944|67.73%
View chu17257-cha-zoe_s2 14 rs2985686
dbSNP Clinvar
50100683 371.68 C G LowGQ;LowGQX;LowDP 0/1 14 SYNONYMOUS_CODING LOW None 0.55911 0.55910 None None None None None None DNAAF2|0.034155944|67.73%
View chu17257-cha-zoe_s2 14 rs9989177
dbSNP Clinvar
50092471 4569.1 T C PASS 1/1 153 NON_SYNONYMOUS_CODING MODERATE None 0.30871 0.30870 0.42073 0.08 0.08 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 chu17257-cha-zoe_s2 14 rs10129889
dbSNP Clinvar
102508056 409.02 C A PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.09904 0.09904 0.13325 0.60 0.00 None None None None None None DYNC1H1|0.285436253|28.69%
View chu17257-cha-zoe_s2 14 rs13749
dbSNP Clinvar
102514227 1440.62 T C PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.34724 0.34720 0.30363 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 chu17257-cha-zoe_s2 14 rs2361293
dbSNP Clinvar
76957887 3711.03 T C PASS 1/1 124 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs2430347
dbSNP Clinvar
92347680 995.64 A G PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.78494 0.78490 0.24320 None None None None None None FBLN5|0.395983413|21.02%

FOXA1

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 chu17257-cha-zoe_s2 14 rs33984772
dbSNP Clinvar
38060646 1758.11 C T PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.03834 0.03834 0.06820 0.35 0.01 None None None None None None FOXA1|0.734792702|7.51%
View chu17257-cha-zoe_s2 14 rs7144658
dbSNP Clinvar
38061742 1311.64 C T PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.58307 0.58310 0.46131 0.24 0.01 None None None None None None FOXA1|0.734792702|7.51%

FRMD6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs731715
dbSNP Clinvar
52182081 2331.45 T A PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.66953 0.66950 0.29925 None None None None None None FRMD6|0.503792775|15.67%
View chu17257-cha-zoe_s2 14 rs2277495
dbSNP Clinvar
52186966 1522.18 G A PASS 0/1 109 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs3809429
dbSNP Clinvar
44975606 1630.36 G T PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.27157 0.27160 0.16392 0.00 0.28 None None None None None None FSCB|0.000408542|98.9%
View chu17257-cha-zoe_s2 14 rs3825630
dbSNP Clinvar
44975052 2045.5 A G PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.27117 0.27120 0.16193 0.12 0.00 None None None None None None FSCB|0.000408542|98.9%
View chu17257-cha-zoe_s2 14 rs1959379
dbSNP Clinvar
44974966 1586.44 G A PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.27117 0.27120 0.16025 0.15 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs2229677
dbSNP Clinvar
66028446 1160.88 A G PASS 1/1 35 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs398076
dbSNP Clinvar
88414211 956.65 G A PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.36661 0.36660 0.40831 None None None None None None GALC|0.120631717|47.35%
View chu17257-cha-zoe_s2 14 rs1805078
dbSNP Clinvar
88450770 1034.22 G A PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.02716 0.02716 0.04180 0.02 0.66 None None None None None None GALC|0.120631717|47.35%
View chu17257-cha-zoe_s2 14 rs367327
dbSNP Clinvar
88411947 1503.18 T C PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.03916 None None None None None None GALC|0.120631717|47.35%
View chu17257-cha-zoe_s2 14 rs398607
dbSNP Clinvar
88407888 1432.39 A G PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.44748 0.44750 0.47761 0.00 0.36 None None None None None None GALC|0.120631717|47.35%
View chu17257-cha-zoe_s2 14 rs421466
dbSNP Clinvar
88407875 1774.49 T A PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.03975 None None None None None None GALC|0.120631717|47.35%
View chu17257-cha-zoe_s2 14 rs421262
dbSNP Clinvar
88401213 2199.43 T C PASS 1/1 81 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%

GPHN

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs140021399
dbSNP Clinvar
67291261 457.03 G A PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00062 0.00 0.59 None None None None None None GPHN|0.933743116|2.69%

GPR68

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs141731950
dbSNP Clinvar
91701023 502.71 G T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.00123 None None None None None None GPR68|0.159363376|41.67%
View chu17257-cha-zoe_s2 14 rs150575263
dbSNP Clinvar
91700552 39.73 G C LowDP 0/1 7 SYNONYMOUS_CODING LOW None 0.00379 0.00379 0.00542 None None None None None None GPR68|0.159363376|41.67%

GSTZ1

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 chu17257-cha-zoe_s2 14 rs1046428
dbSNP Clinvar
77794283 1116.66 T C PASS 0/1 91 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%
View chu17257-cha-zoe_s2 14 rs7975
dbSNP Clinvar
77793207 486.77 G A PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.31150 0.31150 0.31624 0.02 0.07 None None None None None None GSTZ1|0.143879324|43.89%

GZMB

Omim - GeneCards - NCBI
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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 chu17257-cha-zoe_s2 14 rs1126639
dbSNP Clinvar
25101548 103.99 G A PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.30232 0.30230 None None None None None None GZMB|0.006218713|84.38%
View chu17257-cha-zoe_s2 14 rs10909625
dbSNP Clinvar
25101629 312.8 T C PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.30252 0.30250 None None None None None None GZMB|0.006218713|84.38%
View chu17257-cha-zoe_s2 14 rs11539752
dbSNP Clinvar
25101589 355.46 G C PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.30192 0.30190 1.00 0.00 None None None None None None GZMB|0.006218713|84.38%
View chu17257-cha-zoe_s2 14 rs8192917
dbSNP Clinvar
25102160 1190.9 C T PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.68071 0.68070 0.29348 0.34 0.04 None None None None None None GZMB|0.006218713|84.38%
View chu17257-cha-zoe_s2 14 rs2236338
dbSNP Clinvar
25100282 653.57 A G PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.29193 0.29190 0.26534 0.24 0.01 None None None None None None GZMB|0.006218713|84.38%

HSP90AA1

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 chu17257-cha-zoe_s2 14 rs10873531
dbSNP Clinvar
102568296 3509.62 G A PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.66454 0.66450 0.30232 None None None None None None HSP90AA1|0.855021046|4.54%
View chu17257-cha-zoe_s2 14 rs4947
dbSNP Clinvar
102550803 2275.87 G A PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.68451 0.68450 0.32147 None None None None None None HSP90AA1|0.855021046|4.54%
View chu17257-cha-zoe_s2 14 rs8005905
dbSNP Clinvar
102568367 3428.67 T A PASS 1/1 119 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%

IFT43

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 chu17257-cha-zoe_s2 14 rs17783366
dbSNP Clinvar
76543004 838.72 G A PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.16893 0.16890 0.24950 0.29 0.00 None None None None None None IFT43|0.035310574|67.39%

IGHA1

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 chu17257-cha-zoe_s2 14 rs1407
dbSNP Clinvar
106174261 1421.52 C G PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.33007 0.33010 0.23669 0.34 0.51 None None None None None None None
View chu17257-cha-zoe_s2 14 rs17349690
dbSNP Clinvar
106173790 1095.6 A G PASS 0/1 139 SYNONYMOUS_CODING LOW None None None None None None None None
View chu17257-cha-zoe_s2 14 rs1130510
dbSNP Clinvar
106173808 1889.7 G A PASS 0/1 139 SYNONYMOUS_CODING LOW None None None None None None None None

IGHG2

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 chu17257-cha-zoe_s2 14 rs11557955
dbSNP Clinvar
106110966 1562.02 C T PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.43670 0.43670 0.42311 None None None None None None None
View chu17257-cha-zoe_s2 14 rs11160859
dbSNP Clinvar
106110057 777.18 G A PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.43510 0.43510 0.42093 None None None None None None None

IGHM

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs1136534
dbSNP Clinvar
106321913 5953.71 G A PASS 1/1 186 SYNONYMOUS_CODING LOW None 0.56310 0.56310 0.42788 None None None None None None None
View chu17257-cha-zoe_s2 14 rs12365
dbSNP Clinvar
106321590 4497.09 C A PASS 1/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.91494 0.91490 0.09231 0.15 0.11 None None None None None None None

INF2

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 chu17257-cha-zoe_s2 14 rs4983535
dbSNP Clinvar
105180565 803.84 T C SB 1/1 21 SYNONYMOUS_CODING LOW None 0.84425 0.84420 0.20247 None None None None None None INF2|0.011319835|79.76%
View chu17257-cha-zoe_s2 14 rs4983530
dbSNP Clinvar
105167807 1171.65 C T PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.98662 0.98660 0.01773 None None None None None None INF2|0.011319835|79.76%
View chu17257-cha-zoe_s2 14 rs10133301
dbSNP Clinvar
105179194 1598.33 T C PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.90935 0.90930 0.11970 None None None None None None INF2|0.011319835|79.76%
View chu17257-cha-zoe_s2 14 rs1128840
dbSNP Clinvar
105180706 4243.73 A C PASS 1/1 134 SYNONYMOUS_CODING LOW None 0.20967 0.69490 0.35022 None None None None None None INF2|0.011319835|79.76%
View chu17257-cha-zoe_s2 14 rs750660584
dbSNP Clinvar
105173873 13.36 A C LowVariantFreq;SB 0/1 50 SYNONYMOUS_CODING LOW None None None None None None None INF2|0.011319835|79.76%

JAG2

Omim - GeneCards - NCBI
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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 chu17257-cha-zoe_s2 14 rs10149229
dbSNP Clinvar
105609335 1103.37 A G PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.68990 0.68990 0.26605 None None None None None None JAG2|0.207083459|35.89%
View chu17257-cha-zoe_s2 14 rs1057744
dbSNP Clinvar
105617042 847.84 C T PASS 0/1 79 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 chu17257-cha-zoe_s2 14 rs2272591
dbSNP Clinvar
105611282 526.03 A G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.67672 0.67670 0.28173 None None None None None None JAG2|0.207083459|35.89%

LGALS3

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 chu17257-cha-zoe_s2 14 rs4644
dbSNP Clinvar
55604935 1676.08 C A PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.29333 0.29330 0.36133 0.00 1.00 None None None None None None LGALS3|0.061083097|59.57%
View chu17257-cha-zoe_s2 14 rs4652
dbSNP Clinvar
55605036 1240.71 A C PASS 0/1 133 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs6572117
dbSNP Clinvar
42360633 6102.48 T C PASS 1/1 189 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs699374
dbSNP Clinvar
74992800 735.28 A G PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.35335 None None None None None None LTBP2|0.184719306|38.39%
View chu17257-cha-zoe_s2 14 rs862031
dbSNP Clinvar
74991855 354.72 A G LowGQ;LowDP 1/1 15 SYNONYMOUS_CODING LOW None 0.72824 0.72820 0.28618 None None None None None None LTBP2|0.184719306|38.39%

MGAT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs117536357
dbSNP Clinvar
50088719 2778.89 G C PASS 0/1 229 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00131 0.75 0.05 None None None None None None MGAT2|0.314194678|26.48%

MLH3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 14 rs175080
dbSNP Clinvar
75513828 7796.64 G A PASS 1/1 240 NON_SYNONYMOUS_CODING MODERATE None 0.36382 0.36380 0.44264 0.18 0.00 None None None None None None MLH3|0.168045017|40.57%
View chu17257-cha-zoe_s2 14 rs175081
dbSNP Clinvar
75513883 7169.51 T C PASS 1/1 220 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%

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 chu17257-cha-zoe_s2 14 rs1042703
dbSNP Clinvar
23306048 2127.38 C T PASS 1/1 74 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 chu17257-cha-zoe_s2 14 rs1042704
dbSNP Clinvar
23312594 2098.32 G A PASS 0/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.10982 0.10980 0.14947 0.18 0.01 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 chu17257-cha-zoe_s2 14 rs1950902
dbSNP Clinvar
64882380 918.28 A G PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.82348 0.82350 0.16846 1.00 0.02 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 chu17257-cha-zoe_s2 14 rs178640
dbSNP Clinvar
23855569 921.97 A G PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.49281 0.49280 0.44679 None None None None None None MYH6|0.750925844|7.06%
View chu17257-cha-zoe_s2 14 rs142027794
dbSNP Clinvar
23873940 271.21 C T PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00492 0.17 0.06 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 chu17257-cha-zoe_s2 14 rs2069540
dbSNP Clinvar
23902753 2853.6 G A PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.52037 0.52040 0.47247 None None None None None None MYH7|0.534444038|14.41%
View chu17257-cha-zoe_s2 14 rs2069541
dbSNP Clinvar
23901012 810.66 T C PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.00579 0.00579 0.01076 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 chu17257-cha-zoe_s2 14 rs2229309
dbSNP Clinvar
24839083 1384.48 G C PASS 1/1 42 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 chu17257-cha-zoe_s2 14 rs2295298
dbSNP Clinvar
24843620 1985.98 T C PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.28455 0.28450 0.45318 None None None None None None NFATC4|0.294227779|28.1%
View chu17257-cha-zoe_s2 14 rs7149586
dbSNP Clinvar
24845841 3987.05 T C PASS 1/1 129 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%

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 chu17257-cha-zoe_s2 14 rs1050851
dbSNP Clinvar
35872926 469.23 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.10164 0.10160 0.17077 None None None None None None NFKBIA|0.951198752|2.23%

NKX2-1

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 chu17257-cha-zoe_s2 14 rs778886269
dbSNP Clinvar
36987032 743.87 C T PASS 0/1 68 SYNONYMOUS_CODING LOW None None None None None None None NKX2-1|0.978564727|1.5%

NPAS3

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 chu17257-cha-zoe_s2 14 rs12434716
dbSNP Clinvar
34269167 1810.84 G C PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.12161 0.12160 0.17154 0.48 0.00 None None None None None None NPAS3|0.999985495|0.09%
View chu17257-cha-zoe_s2 14 rs10141940
dbSNP Clinvar
34269721 81.02 C T LowDP 0/1 8 SYNONYMOUS_CODING LOW None 0.08327 0.08327 None None None None None None NPAS3|0.999985495|0.09%

NRXN3

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 chu17257-cha-zoe_s2 14 rs1004212
dbSNP Clinvar
79181226 1323.19 C T PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.19649 0.19650 0.19691 None None None None None None NRXN3|0.999470408|0.35%