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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

AIFM1, AMELX, ATP11C, ATP2B3, ATP7A, ATRX, BCOR, BGN, BRWD3, CHRDL1, COL4A6, CSF2RA, DKC1, DMD, EIF2S3, FLNA, FOXP3, G6PD, GRIA3, HCFC1, HUWE1, IGSF1, KDM6A, KIF4A, LAMP2, MAGED2, MAOA, NHS, NSDHL, PCDH19, PDHA1, PHKA1, POU3F4, PTCHD1, RBMX, RLIM, RPGR, RPL10, SHROOM4, SLC9A6, SYN1, TEX11, TFE3, UBA1, XG, XIAP,
AIFM1 Combined oxidative phosphorylation deficiency 6, 300816 (3)
Cowchock syndrome, 310490 (3)
Deafness, X-linked 5, 300614 (3)
AMELX Amelogenesis imperfecta, type 1E, 301200 (3)
ATP11C ?Hemolytic anemia, congenital, X-linked, 301015 (3)
ATP2B3 ?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATP7A Menkes disease, 309400 (3)
Occipital horn syndrome, 304150 (3)
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
ATRX Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3)
Alpha-thalassemia/mental retardation syndrome, 301040 (3)
Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
BCOR Microphthalmia, syndromic 2, 300166 (3)
BGN Meester-Loeys syndrome, 300989 (3)
Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
CHRDL1 Megalocornea 1, X-linked 309300 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
CSF2RA Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)
DKC1 Dyskeratosis congenita, X-linked, 305000 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
EIF2S3 MEHMO syndrome, 300148 (3)
FLNA Frontometaphyseal dysplasia 1, 305620 (3)
Cardiac valvular dysplasia, X-linked, 314400 (3)
Heterotopia, periventricular, 1, 300049 (3)
Congenital short bowel syndrome, 300048 (3)
Intestinal pseudoobstruction, neuronal, 300048 (3)
Melnick-Needles syndrome, 309350 (3)
?FG syndrome 2, 300321 (3)
Otopalatodigital syndrome, type I, 311300 (3)
Otopalatodigital syndrome, type II, 304120 (3)
Terminal osseous dysplasia, 300244 (3)
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)
{Diabetes mellitus, type I, susceptibility to}, 222100 (3)
G6PD Hemolytic anemia, G6PD deficient (favism), 300908 (3)
{Resistance to malaria due to G6PD deficiency}, 611162 (3)
GRIA3 Mental retardation, X-linked 94, 300699 (3)
HCFC1 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888 (3)
KDM6A Kabuki syndrome 2, 300867 (3)
KIF4A ?Mental retardation, X-linked 100, 300923 (3)
LAMP2 Danon disease, 300257 (3)
MAGED2 Bartter syndrome, type 5, antenatal, transient, 300971 (3)
MAOA Brunner syndrome, 300615 (3)
{Antisocial behavior}, 300615 (3)
NHS Cataract 40, X-linked, 302200 (3)
Nance-Horan syndrome, 302350 (3)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (3)
PCDH19 Epileptic encephalopathy, early infantile, 9, 300088 (3)
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
PHKA1 Muscle glycogenosis, 300559 (3)
POU3F4 Deafness, X-linked 2, 304400 (3)
PTCHD1 {Autism, susceptibility to, X-linked 4}, 300830 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RLIM Tonne-Kalscheuer syndrome, 300978 (3)
RPGR Cone-rod dystrophy, X-linked, 1, 304020 (3)
Macular degeneration, X-linked atrophic, 300834 (3)
Retinitis pigmentosa 3, 300029 (3)
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
RPL10 Mental retardation, X-linked, syndromic, 35, 300998 (3)
{Autism, susceptibility to, X-linked 5}, 300847 (3)
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC9A6 Mental retardation, X-linked syndromic, Christianson type, 300243 (3)
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
TFE3 Renal cell carcinoma, papillary, 1, 300854 (3)
UBA1 Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
XG [Blood group, XG system] (3)
XIAP Lymphoproliferative syndrome, X-linked, 2, 300635 (3)

Genes at Clinical Genomics Database

AIFM1, AMELX, ATP2B3, ATP7A, ATRX, BCOR, BRWD3, CFP, CHRDL1, COL4A6, CSF2RA, DKC1, DMD, FLNA, FOXP3, G6PD, GRIA3, HCFC1, HUWE1, IGSF1, KDM6A, KIF4A, LAMP2, MAGED2, MAOA, NHS, NSDHL, PCDH19, PDHA1, PHKA1, POF1B, POU3F4, PTCHD1, RBMX, RPGR, SERPINA7, SHROOM4, SLC9A6, SYN1, TENM1, TEX11, UBA1, XG, XIAP,
AIFM1 Deafness, X-linked 5
AMELX Amelogenesis imperfecta, type 1E
ATP2B3 Spinocerebellar ataxia, X-linked 1
ATP7A Menkes disease
ATRX Mental retardation-hypotonic facies syndrome, X-linked
Juberg-Marsidi syndrome
Carpenter-Waziri syndrome
Holmes-Gang syndrome
Smith-Fineman-Myers syndrome
Alpha-thalassemia/mental retardation syndrome
BCOR Microphthalmia, syndromic 2
Oculofaciocardiodental syndrome
BRWD3 Mental retardation, X-linked 93
CFP Properdin deficiency, X-linked
CHRDL1 Megalocornea 1, X-linked
COL4A6 Deafness, X-linked, with cochlear malformation
CSF2RA Surfactant metabolism dysfunction, pulmonary, 4
DKC1 Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
DMD Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
FLNA Cardiac valvular dysplasia, X-linked
Heterotopia, periventricular, Ehlers-Danlos variant
Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
G6PD Glucose-6-phosphate dehydrogenase deficiency
GRIA3 Mental retardation, X-linked 94
HCFC1 Combined methylmalonic acidemia and hyperhomocysteinemia
HUWE1 Mental retardation, X-linked syndromic, Turner type
IGSF1 Central hypothyroidism and testicular enlargement
KDM6A Kabuki syndrome 2
KIF4A Mental retardation, X-linked 100
LAMP2 Danon disease
MAGED2 Bartter syndrome type 5, antenatal transient
MAOA Brunner syndrome
NHS Nance-Horan syndrome
Cataract 40
NSDHL Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
PCDH19 Epileptic encephalopathy, early infantile, 9
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome, X-linked
PHKA1 Glycogen storage disease, type Ixd
POF1B Premature ovarian failure 2B
POU3F4 Deafness, X-linked 2
PTCHD1 Autism susceptibility, X-linked 4
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
SERPINA7 Thyroxine-binding globulin deficiency
Thyroxine-binding globulin excess
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SLC9A6 Mental retardation, X-linked syndromic, Christianson type
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
TENM1 Microphthalmia, isolated, with coloboma 9
TEX11 Spermatogenic failure, X-linked 2
UBA1 Spinal muscular atrophy, X-linked 2, infantile
XG XG blood group
XIAP Lymphoproliferative syndrome, X-linked, 2

Genes at HGMD

Summary

Number of Variants: 2030
Number of Genes: 200

Export to: CSV

AIFM1

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 gordonsepilepsy normalized 2076 X rs1139851
dbSNP Clinvar
129283520 4365.68 A G . 1/1 21 SYNONYMOUS_CODING LOW None 0.49113 0.49110 0.49020 None None None None None None AIFM1|0.770044974|6.56%

AKAP17A

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 gordonsepilepsy normalized 2076 X rs28661622
dbSNP Clinvar
1719897 2921.22 C G . 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.53355 0.53350 0.48013 0.48 0.00 None None None None None None AKAP17A|0.002882858|88.87%
View gordonsepilepsy normalized 2076 X rs58902273
dbSNP Clinvar
1718360 2533.48 G A . 0/1 6 None None None 0.49361 0.49360 0.43836 0.03 0.00 None None None None None None AKAP17A|0.002882858|88.87%
View gordonsepilepsy normalized 2076 X rs6644621
dbSNP Clinvar
1713021 4469.92 C T . 0/1 21 SYNONYMOUS_CODING LOW None 0.55931 0.55930 0.45884 None None None None None None AKAP17A|0.002882858|88.87%

AMELX

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 gordonsepilepsy normalized 2076 X rs2106416
dbSNP Clinvar
11316742 7662.68 C T . 1/1 29 SYNONYMOUS_CODING LOW None 0.16477 0.16480 0.24510 None None None None None None ARHGAP6|0.321783914|26.02%,AMELX|0.618887456|11.12%

ARHGAP6

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 gordonsepilepsy normalized 2076 X rs1009758
dbSNP Clinvar
11157535 4817.3 G C . 1/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.15656 0.15660 0.20941 0.37 0.03 None None None None None None ARHGAP6|0.321783914|26.02%

ARL13A

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 gordonsepilepsy normalized 2076 X rs6523438
dbSNP Clinvar
100245606 9901.9 A G . 1/1 17 None None None 0.85642 0.85640 0.16250 None None None None None None ARL13A|0.006011211|84.59%
View gordonsepilepsy normalized 2076 X rs3934462
dbSNP Clinvar
100243459 5005.69 G T . 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.91338 0.91340 0.10304 0.12 0.00 None None None None None None ARL13A|0.006011211|84.59%

ARMCX1

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 gordonsepilepsy normalized 2076 X rs1044275
dbSNP Clinvar
100808222 1831.02 C T . 1/1 9 SYNONYMOUS_CODING LOW None 0.02649 0.02649 0.06987 None None None None None None ARMCX1|0.030084559|69.36%

ARMCX2

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 gordonsepilepsy normalized 2076 X rs3850315
dbSNP Clinvar
100911066 9660.68 C T . 1/1 65 SYNONYMOUS_CODING LOW None 0.96689 0.96690 0.05737 None None None None None None ARMCX2|0.023937868|72.22%

ARMCX4

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 gordonsepilepsy normalized 2076 X rs5951332
dbSNP Clinvar
100743826 5963.15 A G . 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.61934 0.61930 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View gordonsepilepsy normalized 2076 X rs963618
dbSNP Clinvar
100743037 3586.15 C T . 1/1 15 START_GAINED LOW None 0.65987 0.65990 None None None None None None ARMCX4|0.006015436|84.57%

ARSD

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 gordonsepilepsy normalized 2076 X rs370769167
dbSNP Clinvar
2833638 5769.5 C T . 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs73632977
dbSNP Clinvar
2836211 2042.5 A T . 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.64 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs377542415
dbSNP Clinvar
2833631 5498.5 A G . 0/1 24 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs73632978
dbSNP Clinvar
2836238 1202.5 G A . 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.09 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs113318393
dbSNP Clinvar
2836060 3674.5 G A . 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs150899882
dbSNP Clinvar
2835995 2657.5 C A . 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.90 0.00 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs115332247
dbSNP Clinvar
2833643 5798.5 C A . 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.01 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs373216270
dbSNP Clinvar
2833628 5053.5 A C . 0/1 22 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs755296450
dbSNP Clinvar
2835993 2615.5 G A . 0/1 15 SYNONYMOUS_CODING LOW None 0.00371 0.00371 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs111939179
dbSNP Clinvar
2833605 2887.5 C T . 0/1 19 STOP_GAINED HIGH None None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs78034736
dbSNP Clinvar
2835863 1133.5 G T . 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs73632972
dbSNP Clinvar
2835964 3133.5 G A . 0/1 20 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs73632973
dbSNP Clinvar
2836084 3633.5 C G . 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs73632976
dbSNP Clinvar
2836184 3971.51 C T . 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.95 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs73632974
dbSNP Clinvar
2836138 2939.23 G A . 0/1 7 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs67359049
dbSNP Clinvar
2836047 3631.5 C T . 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.33 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs143238998
dbSNP Clinvar
2835989 2774.5 A C . 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.00371 0.00371 0.05 0.08 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs67272620
dbSNP Clinvar
2836041 3633.5 A T . 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs113556864
dbSNP Clinvar
2835998 2633.5 CC... C . 0/1 14 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.18295 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs748243474
dbSNP Clinvar
2835985 2956.5 G A . 0/1 17 SYNONYMOUS_CODING LOW None 0.00371 0.00371 None None None None None None ARSD|0.001611053|92.29%
View gordonsepilepsy normalized 2076 X rs73632975
dbSNP Clinvar
2836181 3983.5 A T . 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.15 None None None None None None ARSD|0.001611053|92.29%

ARSF

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 gordonsepilepsy normalized 2076 X rs5983003
dbSNP Clinvar
3002687 4936.15 A G . 1/1 17 SYNONYMOUS_CODING LOW None 0.79364 0.79360 0.29556 None None None None None None ARSF|0.001220406|94.34%

ARSH

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 gordonsepilepsy normalized 2076 X rs5939407
dbSNP Clinvar
2942109 4163.36 T C . 1/1 4 SYNONYMOUS_CODING LOW None 0.74702 0.74700 0.36846 None None None None None None ARSH|0.004353843|86.54%

ASMTL

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 gordonsepilepsy normalized 2076 X rs5948863
dbSNP Clinvar
1546876 8961.69 A G . 1/1 14 SYNONYMOUS_CODING LOW None 0.71366 0.71370 0.35645 None None None None None None ASMTL|0.001996891|91.03%
View gordonsepilepsy normalized 2076 X rs4503285
dbSNP Clinvar
1537881 284.32 C T . 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.26558 0.26560 0.25753 0.03 0.03 None None None None None None ASMTL|0.001996891|91.03%
View gordonsepilepsy normalized 2076 X rs6644873
dbSNP Clinvar
1537002 4850.72 C G . 1/1 6 SYNONYMOUS_CODING LOW None 0.66933 0.66930 0.39586 None None None None None None ASMTL|0.001996891|91.03%
View gordonsepilepsy normalized 2076 X rs3183025
dbSNP Clinvar
1554649 1529.48 T C . 0/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.38478 0.38480 0.37514 None None None None None None ASMTL|0.001996891|91.03%
View gordonsepilepsy normalized 2076 X rs1127297
dbSNP Clinvar
1531648 6640.5 C T . 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.36961 0.36960 0.26767 0.68 0.01 None None None None None None ASMTL|0.001996891|91.03%
View gordonsepilepsy normalized 2076 X rs5949099
dbSNP Clinvar
1546792 7164.69 G A . 1/1 18 SYNONYMOUS_CODING LOW None 0.69669 0.69670 0.36851 None None None None None None ASMTL|0.001996891|91.03%

ATP11C

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 gordonsepilepsy normalized 2076 X rs2491014
dbSNP Clinvar
138897130 2984.69 A C . 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.99205 0.99210 0.01516 1.00 0.00 None None None None None None ATP11C|0.389494809|21.44%

ATP2B3

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 gordonsepilepsy normalized 2076 X rs2269415
dbSNP Clinvar
152823728 3536.68 G C . 1/1 27 SYNONYMOUS_CODING LOW None 0.47391 0.47390 0.38938 None None None None None None ATP2B3|0.203946244|36.25%
View gordonsepilepsy normalized 2076 X rs3020949
dbSNP Clinvar
152815089 14451.7 A G . 1/1 24 SYNONYMOUS_CODING LOW None 0.98543 0.98540 0.01051 None None None None None None ATP2B3|0.203946244|36.25%

ATP7A

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 gordonsepilepsy normalized 2076 X rs4826245
dbSNP Clinvar
77298857 6608.68 G A . 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ATP7A|0.267298986|30.07%
View gordonsepilepsy normalized 2076 X rs2227291
dbSNP Clinvar
77268502 2949.9 G C . 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.29934 0.29930 0.25554 0.05 1.00 None None None None None None ATP7A|0.267298986|30.07%

ATRX

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 gordonsepilepsy normalized 2076 X rs3088074
dbSNP Clinvar
76937963 4195.9 G C . 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.55232 0.55230 0.49167 0.00 None None None None None None ATRX|0.768191445|6.65%

ATXN3L

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 gordonsepilepsy normalized 2076 X rs4830842
dbSNP Clinvar
13337059 10690.2 C T . 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.65351 0.65350 0.47569 1.00 0.00 None None None None None None ATXN3L|0.001386148|93.42%

BCOR

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 gordonsepilepsy normalized 2076 X rs5917933
dbSNP Clinvar
39933339 16986.7 A G . 1/1 8 SYNONYMOUS_CODING LOW None 0.90305 0.90300 0.10425 None None None None None None BCOR|0.481414102|16.71%

BCORL1

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 gordonsepilepsy normalized 2076 X rs61752973
dbSNP Clinvar
129147531 4925.9 G A . 1/1 37 SYNONYMOUS_CODING LOW None 0.00212 0.00212 0.00502 None None None None None None BCORL1|0.202266088|36.48%
View gordonsepilepsy normalized 2076 X rs4830173
dbSNP Clinvar
129147079 12278.7 T C . 1/1 5 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None BCORL1|0.202266088|36.48%

BEX2

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 gordonsepilepsy normalized 2076 X rs7557
dbSNP Clinvar
102564583 7398.9 A G . 1/1 51 SYNONYMOUS_CODING LOW None 0.83285 0.83280 0.30247 None None None None None None BEX2|0.018970374|74.68%

BGN

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 gordonsepilepsy normalized 2076 X rs4833
dbSNP Clinvar
152770230 1965.91 G A . 1/1 19 SYNONYMOUS_CODING LOW None 0.38861 0.38860 0.35757 None None None None None None BGN|0.555214937|13.51%

BRWD3

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 gordonsepilepsy normalized 2076 X rs3122407
dbSNP Clinvar
79943569 13803.7 T C . 1/1 31 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98967 0.98970 0.00975 1.00 0.00 None None None None None None BRWD3|0.286279937|28.63%

CA5B

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 gordonsepilepsy normalized 2076 X rs1808
dbSNP Clinvar
15800751 4196.68 G A . 1/1 36 SYNONYMOUS_CODING LOW None 0.34782 0.34780 0.31696 None None None None None None CA5B|0.115811341|48.17%

CCDC160

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 gordonsepilepsy normalized 2076 X rs2428577
dbSNP Clinvar
133379551 21547.7 C T . 1/1 47 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CCDC160|0.006302974|84.27%

CD99

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 gordonsepilepsy normalized 2076 X rs1136447
dbSNP Clinvar
2632482 10719.9 C T . 1/1 114 SYNONYMOUS_CODING LOW None 0.31390 0.31390 0.36821 None None None None None None CD99|0.003192915|88.33%
View gordonsepilepsy normalized 2076 X rs2236738
dbSNP Clinvar
2609983 6485.2 T C . 1/1 20 None None None 0.45487 0.45490 0.39794 None None None None None None CD99|0.003192915|88.33%
View gordonsepilepsy normalized 2076 X rs311083
dbSNP Clinvar
2645366 6797.5 G C . 0/1 19 None None None 0.61641 0.61640 0.29351 0.54 None None None None None None CD99|0.003192915|88.33%

CFP

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 gordonsepilepsy normalized 2076 X rs1048118
dbSNP Clinvar
47483800 1775.9 G A . 1/1 14 SYNONYMOUS_CODING LOW None 0.20689 0.20690 0.23819 None None None None None None CFP|0.039345456|66%

CHRDL1

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 gordonsepilepsy normalized 2076 X rs5943053
dbSNP Clinvar
109931856 2877.9 T C . 1/1 39 SYNONYMOUS_CODING LOW None 0.38782 0.38780 0.46246 None None None None None None CHRDL1|0.341792402|24.72%

CITED1

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 gordonsepilepsy normalized 2076 X rs3012627
dbSNP Clinvar
71521867 9612.18 G C . 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.80927 0.80930 0.08629 1.00 0.00 None None None None None None PIN4|0.129268487|45.97%,CITED1|0.122175989|47.09%

CNGA2

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 gordonsepilepsy normalized 2076 X rs714147
dbSNP Clinvar
150912962 774.91 G A . 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.15656 0.15660 0.16654 0.50 0.00 None None None None None None CNGA2|0.167139433|40.64%

COL4A6

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 gordonsepilepsy normalized 2076 X rs4623610
dbSNP Clinvar
107418906 13553.7 A G . 1/1 29 SYNONYMOUS_CODING LOW None 0.98384 0.98380 0.01695 None None None None None None COL4A6|0.130757642|45.78%
View gordonsepilepsy normalized 2076 X rs5973851
dbSNP Clinvar
107417730 4885.46 G A . 1/1 15 SYNONYMOUS_CODING LOW None 0.40609 0.40610 0.23260 None None None None None None COL4A6|0.130757642|45.78%

CPXCR1

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 gordonsepilepsy normalized 2076 X rs5940915
dbSNP Clinvar
88008423 3865.3 A C . 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.91364 0.91360 0.09442 1.00 0.00 None None None None None None CPXCR1|0.001467264|92.95%
View gordonsepilepsy normalized 2076 X rs5984611
dbSNP Clinvar
88008807 6547.68 G A . 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.23046 0.23050 0.32926 0.63 0.92 None None None None None None CPXCR1|0.001467264|92.95%

CSF2RA

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 gordonsepilepsy normalized 2076 X rs28460440
dbSNP Clinvar
1422868 6648.5 G A . 0/1 106 SYNONYMOUS_CODING LOW None 0.32628 0.32630 0.37983 None None None None None None CSF2RA|0.001975868|91.07%

CT45A5

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 gordonsepilepsy normalized 2076 X rs2034920
dbSNP Clinvar
134948034 9941.68 A G . 1/1 100 SYNONYMOUS_CODING LOW None 0.83470 0.83470 0.22066 None None None None None None CT45A4|0.000504008|98.41%,CT45A5|0.000543107|98.22%

CXorf21

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 gordonsepilepsy normalized 2076 X rs887369
dbSNP Clinvar
30577846 10488.7 A C . 1/1 36 SYNONYMOUS_CODING LOW None 0.89722 0.89720 0.19572 None None None None None None CXorf21|0.11528982|48.25%

CXorf23

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 gordonsepilepsy normalized 2076 X rs41309605
dbSNP Clinvar
19983405 2994.68 G A . 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.00397 0.00397 0.00243 0.47 0.01 None None None None None None CXorf23|0.053386438|61.68%

CXorf28

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 gordonsepilepsy normalized 2076 X rs12559033
dbSNP Clinvar
3189936 1986.77 G A . 1/1 10 SYNONYMOUS_CODING LOW None 0.03762 0.03762 None None None None None None LINC01546|0.000622231|97.77%

CXorf36

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 gordonsepilepsy normalized 2076 X rs1132201
dbSNP Clinvar
45051111 4670.46 C T . 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.43947 0.43950 0.28013 0.61 0.02 None None None None None None CXorf36|0.073887248|56.54%

CXorf38

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 gordonsepilepsy normalized 2076 X rs6610447
dbSNP Clinvar
40506697 7420.7 A G . 1/1 8 SYNONYMOUS_CODING LOW None 0.97669 0.97670 0.03974 None None None None None None CXorf38|0.065046146|58.62%

CXorf40A

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 gordonsepilepsy normalized 2076 X rs626560
dbSNP Clinvar
148627384 4902.68 A G . 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.94013 0.94010 1.00 0.00 None None None None None None CXorf40A|0.004189314|86.75%
View gordonsepilepsy normalized 2076 X rs12116111
dbSNP Clinvar
148628490 2213.71 A T . 1/1 7 SYNONYMOUS_CODING LOW None 0.94252 0.94250 None None None None None None CXorf40A|0.004189314|86.75%

CXorf58

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 gordonsepilepsy normalized 2076 X rs2707164
dbSNP Clinvar
23928489 2751.21 C T . 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.37007 0.37010 0.46161 0.19 0.01 None None None None None None CXorf58|0.013383355|78.26%

CXorf64

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 gordonsepilepsy normalized 2076 X rs12835991
dbSNP Clinvar
125954964 1340.08 C G . 1/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.05007 0.05007 0.07306 0.05 0.90 None None None None None None PRR32|0.002165243|90.54%

CXorf67

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 gordonsepilepsy normalized 2076 X rs17854399
dbSNP Clinvar
51150441 2318.71 G T . 1/1 2 SYNONYMOUS_CODING LOW None 0.12583 0.12580 0.17754 None None None None None None CXorf67|0.00015218|99.85%

DHRSX

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 gordonsepilepsy normalized 2076 X rs3210910
dbSNP Clinvar
2139200 8937.92 T C . 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.91534 0.91530 0.81 0.00 None None None None None None DHRSX|0.002517111|89.65%
View gordonsepilepsy normalized 2076 X rs1127915
dbSNP Clinvar
2161129 9551.68 C G . 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.56590 0.56590 0.23904 1.00 0.00 None None None None None None DHRSX|0.002517111|89.65%

DKC1

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 gordonsepilepsy normalized 2076 X rs2728532
dbSNP Clinvar
153994596 5602.68 G T . 1/1 22 SYNONYMOUS_CODING LOW None 0.99258 0.99260 0.00814 None None None None None None DKC1|0.779908958|6.32%

DMD

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 gordonsepilepsy normalized 2076 X rs1801188
dbSNP Clinvar
31697636 9781.9 A G . 1/1 15 SYNONYMOUS_CODING LOW None 0.18119 0.18120 0.16788 None None None None None None DMD|0.999751041|0.27%
View gordonsepilepsy normalized 2076 X rs1800273
dbSNP Clinvar
31986607 2047.68 G A . 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.01298 0.01298 0.02662 0.84 None None None None None None DMD|0.999751041|0.27%

DNASE1L1

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 gordonsepilepsy normalized 2076 X rs1130929
dbSNP Clinvar
153633359 6369.7 G C . 1/1 9 SYNONYMOUS_CODING LOW None 0.69722 0.69720 0.31923 None None None None None None RPL10|0.202311641|36.48%,DNASE1L1|0.011941688|79.28%

EDA2R

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 gordonsepilepsy normalized 2076 X rs1385699
dbSNP Clinvar
65824986 5031.55 C T . 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.66543 0.66540 0.44012 0.84 0.01 None None None None None None EDA2R|0.057303601|60.61%
View gordonsepilepsy normalized 2076 X rs1385698
dbSNP Clinvar
65822607 3460.9 T C . 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.92901 0.92900 0.08077 0.38 0.00 None None None None None None EDA2R|0.057303601|60.61%

EIF2S3

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 gordonsepilepsy normalized 2076 X rs36018672
dbSNP Clinvar
24073761 2700.9 C T . 1/1 14 SYNONYMOUS_CODING LOW None 0.36318 0.36320 0.49986 None None None None None None EIF2S3|0.31714361|26.3%

FAAH2

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 gordonsepilepsy normalized 2076 X rs1367830
dbSNP Clinvar
57475132 18523.7 T C . 1/1 31 SYNONYMOUS_CODING LOW None 0.47073 0.47070 0.49181 None None None None None None FAAH2|0.005909057|84.68%
View gordonsepilepsy normalized 2076 X rs4826543
dbSNP Clinvar
57405163 8353.68 T C . 1/1 17 SYNONYMOUS_CODING LOW None 0.91815 0.91810 0.08823 None None None None None None FAAH2|0.005909057|84.68%

FAM122C

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 gordonsepilepsy normalized 2076 X rs5975480
dbSNP Clinvar
133988253 2149.9 A G . 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.17298 0.17300 0.19806 0.89 0.00 None None None None None None FAM122C|0.005486263|85.22%

FAM127B

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 gordonsepilepsy normalized 2076 X rs2498776
dbSNP Clinvar
134185997 3213.24 T A . 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.00026 0.72080 0.20301 0.01 0.51 None None None None None None FAM127B|0.010606007|80.43%

FAM3A

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 gordonsepilepsy normalized 2076 X . 153735772 39.72 C T . 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None FAM3A|0.106980445|49.8%
View gordonsepilepsy normalized 2076 X rs139135137
dbSNP Clinvar
153735766 39.72 G A . 0/1 6 SYNONYMOUS_CODING LOW None 0.00159 0.00159 0.00066 None None None None None None FAM3A|0.106980445|49.8%
View gordonsepilepsy normalized 2076 X . 153735807 39.81 A G . 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None FAM3A|0.106980445|49.8%
View gordonsepilepsy normalized 2076 X . 153735799 39.93 A G . 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None FAM3A|0.106980445|49.8%
View gordonsepilepsy normalized 2076 X . 153735796 39.81 A G . 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None FAM3A|0.106980445|49.8%
View gordonsepilepsy normalized 2076 X . 153735790 39.75 T C . 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None FAM3A|0.106980445|49.8%
View gordonsepilepsy normalized 2076 X rs782790300
dbSNP Clinvar
153735787 39.75 C A . 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None FAM3A|0.106980445|49.8%

FAM46D

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 gordonsepilepsy normalized 2076 X rs1113265
dbSNP Clinvar
79698593 17284.7 C G . 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.37245 0.37250 0.40570 1.00 0.02 None None None None None None FAM46D|0.04862911|63.07%