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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

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CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

AIFM1, AR, ARR3, ARSE, ATP11C, ATP2B3, ATP6AP1, ATP7A, AVPR2, BGN, BRWD3, BTK, COL4A6, CXorf56, DKC1, DLG3, DMD, EIF2S3, FMR1, FRMD7, FRMPD4, GDI1, GLUD2, GPR101, GRIA3, HCFC1, HUWE1, IGSF1, KDM6A, KIF4A, NSDHL, OPN1LW, OPN1MW, PDHA1, POU3F4, RBMX, RPGR, TAF1, TEX11, TSPAN7, UBA1, XG,
AIFM1 Combined oxidative phosphorylation deficiency 6, 300816 (3)
Cowchock syndrome, 310490 (3)
Deafness, X-linked 5, 300614 (3)
AR Androgen insensitivity, 300068 (3)
Androgen insensitivity, partial, with or without breast cancer, 312300 (3)
Hypospadias 1, X-linked, 300633 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ARR3 Myopia 26, X-linked, female-limited, 301010 (3)
ARSE Chondrodysplasia punctata, X-linked recessive, 302950 (3)
ATP11C ?Hemolytic anemia, congenital, X-linked, 301015 (3)
ATP2B3 ?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATP6AP1 Immunodeficiency 47, 300972 (3)
ATP7A Menkes disease, 309400 (3)
Occipital horn syndrome, 304150 (3)
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
AVPR2 Diabetes insipidus, nephrogenic, 304800 (3)
Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)
BGN Meester-Loeys syndrome, 300989 (3)
Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
BTK Agammaglobulinemia, X-linked 1, 300755 (3)
Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
CXorf56 ?Mental retardation, X-linked 107, 301013 (3)
DKC1 Dyskeratosis congenita, X-linked, 305000 (3)
DLG3 Mental retardation, X-linked 90, 300850 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
EIF2S3 MEHMO syndrome, 300148 (3)
FMR1 Fragile X syndrome, 300624 (3)
Fragile X tremor/ataxia syndrome, 300623 (3)
Premature ovarian failure 1, 311360 (3)
FRMD7 Nystagmus 1, congenital, X-linked, 310700 (3)
Nystagmus, infantile periodic alternating, X-linked, 310700 (3)
FRMPD4 Mental retardation, X-linked 104, 300983 (3)
GDI1 Mental retardation, X-linked 41, 300849 (3)
GLUD2 {Parkinson disease, age of onset, modifier}, 168600 (3)
GPR101 Pituitary adenoma 2, GH-secreting, 300943 (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)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (3)
OPN1LW Blue cone monochromacy, 303700 (3)
Colorblindness, protan, 303900 (3)
OPN1MW Blue cone monochromacy, 303700 (3)
Colorblindness, deutan, 303800 (3)
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
POU3F4 Deafness, X-linked 2, 304400 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (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)
TAF1 Dystonia-Parkinsonism, X-linked, 314250 (3)
Mental retardation, X-linked, syndromic 33, 300966 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
TSPAN7 Mental retardation, X-linked 58, 300210 (3)
UBA1 Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
XG [Blood group, XG system] (3)

Genes at Clinical Genomics Database

AIFM1, AR, ARHGEF6, ARSE, ATP2B3, ATP7A, AVPR2, BRWD3, BTK, COL4A6, DKC1, DLG3, DMD, FMR1, FRMD7, GDI1, GPR101, GRIA3, HCFC1, HUWE1, IGSF1, KDM6A, KIF4A, NSDHL, OPN1LW, OPN1MW, PDHA1, POF1B, POU3F4, RBMX, RPGR, SERPINA7, TAF1, TEX11, TSPAN7, UBA1, XG, ZNF41,
AIFM1 Deafness, X-linked 5
AR Androgen insensitivity
Androgen insensitivity, partial
ARHGEF6 Mental retardation, X-linked 46
ARSE Chondrodysplasia punctata 1, X-linked recessive
ATP2B3 Spinocerebellar ataxia, X-linked 1
ATP7A Menkes disease
AVPR2 Diabetes insipidus, nephrogenic, X-linked
BRWD3 Mental retardation, X-linked 93
BTK Agammaglobulinemia, X-linked
Agammaglobulinemia and isolated hormone deficiency
Hypogammaglobulinemia, X-linked
COL4A6 Deafness, X-linked, with cochlear malformation
DKC1 Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
DLG3 Mental retardation, X-linked 90
DMD Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
FMR1 Premature ovarian failure
FRMD7 Nystagmus, infantile periodic alternating, X-linked
GDI1 Mental retardation, X-linked 41
GPR101 Pituitary adenoma, growth hormone secreting, 2
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
NSDHL Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
OPN1LW Colorblindness, partial, protan series
Blue cone monochromacy
Red cone polymorphism
OPN1MW Colorblindness, partial, deutan series
Cone dystrophy 5, X-linked
Blue cone monochromacy
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome, X-linked
POF1B Premature ovarian failure 2B
POU3F4 Deafness, X-linked 2
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
TAF1 Dystonia 3, torsion, X-linked
Mental retardation, X-linked, syndromic 33
TEX11 Spermatogenic failure, X-linked 2
TSPAN7 Mental retardation, X-linked 58
UBA1 Spinal muscular atrophy, X-linked 2, infantile
XG XG blood group
ZNF41 Mental retardation, X-linked 89

Genes at HGMD

Summary

Number of Variants: 1037
Number of Genes: 194

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1139851
dbSNP Clinvar
129283520 889.77 A G PASS 1/1 22 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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs6644621
dbSNP Clinvar
1713021 18.1 C T PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.55931 0.55930 0.45884 None None None None None None AKAP17A|0.002882858|88.87%

AR

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X . 66766356 316.66 TG... TG... PASS 1/1 14 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%

ARHGAP4

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2070097
dbSNP Clinvar
153176254 644.77 A G PASS 1/1 18 SYNONYMOUS_CODING LOW None 0.70490 0.70490 0.44202 None None None None None None ARHGAP4|0.028368935|70.27%

ARHGEF6

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs35106300
dbSNP Clinvar
135827479 1693.77 C T PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.00159 0.00159 0.00312 0.14 0.00 2.28 0.01 0.29606 T None None None None ARHGEF6|0.53421234|14.42%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs3934462
dbSNP Clinvar
100243459 979.77 G T PASS 1/1 26 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%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs6523438
dbSNP Clinvar
100245606 1150.77 A G PASS 1/1 32 None None None 0.85642 0.85640 0.16250 None None None None None None ARL13A|0.006011211|84.59%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs3850315
dbSNP Clinvar
100911066 1548.77 C T PASS 1/1 43 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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs73563076
dbSNP Clinvar
100747453 4488.77 G A PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.08715 0.08715 0.47 0.08 -0.86 None None None None None None ARMCX4|0.006015436|84.57%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs5951336
dbSNP Clinvar
100749127 2528.77 A G PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.69166 0.69170 1.00 0.00 -2.21 None None None None None None ARMCX4|0.006015436|84.57%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X . 100749016 11.8 G GA... PASS 0/1 21 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ARMCX4|0.006015436|84.57%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs5991911
dbSNP Clinvar
100748078 4788.77 A G PASS 1/1 132 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs5951332
dbSNP Clinvar
100743826 3287.77 A G PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.61934 0.61930 0.65 0.00 -1.98 None None None None None None ARMCX4|0.006015436|84.57%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs963618
dbSNP Clinvar
100743037 2624.77 C T PASS 1/1 76 START_GAINED LOW None 0.65987 0.65990 None None None None None None ARMCX4|0.006015436|84.57%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs5951333
dbSNP Clinvar
100745825 4585.77 T C PASS 1/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.66199 0.66200 0.61 0.00 -0.18 None None None None None None ARMCX4|0.006015436|84.57%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs61736018
dbSNP Clinvar
100747694 4084.77 G C PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.17378 0.17380 0.06 0.69 2.41 None None None None None None ARMCX4|0.006015436|84.57%

ARR3

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs3818862
dbSNP Clinvar
69489530 1619.77 C T PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.18887 0.18890 0.07981 None None None None None None ARR3|0.071510607|57.08%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs111939179
dbSNP Clinvar
2833605 324.77 C T PASS 0/1 31 STOP_GAINED HIGH None 10.47 None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs78034736
dbSNP Clinvar
2835863 864.77 G T PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 5.25 None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs115332247
dbSNP Clinvar
2833643 403.77 C A PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.01 -0.75 0.05 0.63688 D None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs73632974
dbSNP Clinvar
2836138 1396.77 G A PASS 0/1 124 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs73632975
dbSNP Clinvar
2836181 1369.77 A T PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.11 2.62 None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs73632976
dbSNP Clinvar
2836184 1448.77 C T PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.85 5.83 None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs73632977
dbSNP Clinvar
2836211 979.77 A T PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.90 2.19 None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs370769167
dbSNP Clinvar
2833638 433.77 C T PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 4.61 0.39 0.93207 D None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs73632978
dbSNP Clinvar
2836238 687.77 G A PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.05 -0.05 None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs377542415
dbSNP Clinvar
2833631 550.77 A G PASS 0/1 42 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs373216270
dbSNP Clinvar
2833628 466.77 A C PASS 0/1 34 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs73632972
dbSNP Clinvar
2835964 1016.77 G A PASS 0/1 112 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs67272620
dbSNP Clinvar
2836041 1139.77 A T PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 -1.37 None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs67359049
dbSNP Clinvar
2836047 1111.77 C T PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.77 1.18 None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs113318393
dbSNP Clinvar
2836060 963.77 G A PASS 0/1 112 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs73632973
dbSNP Clinvar
2836084 1349.77 C G PASS 0/1 126 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%

ARSE

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs35143646
dbSNP Clinvar
2856155 405.77 C T PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.57457 0.57460 0.49223 0.18 0.49 4.45 None None None None None None ARSE|0.002669381|89.33%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs11222
dbSNP Clinvar
2852951 788.77 G A PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.56583 0.56580 0.45809 None None None None None None ARSE|0.002669381|89.33%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs5983003
dbSNP Clinvar
3002687 609.77 A G PASS 1/1 16 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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs5939407
dbSNP Clinvar
2942109 1934.77 T C PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.74702 0.74700 0.36846 None None None None None None ARSH|0.004353843|86.54%

ASB11

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs5935944
dbSNP Clinvar
15332558 1163.77 A G PASS 1/1 33 None None None 0.35921 0.35920 0.32046 None None None None None None ASB11|0.151540693|42.75%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2491014
dbSNP Clinvar
138897130 52.74 A C PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.99205 0.99210 0.01516 1.00 0.00 1.76 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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs3020949
dbSNP Clinvar
152815089 1514.77 A G PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.98543 0.98540 0.01051 None None None None None None ATP2B3|0.203946244|36.25%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2269415
dbSNP Clinvar
152823728 3004.77 G C PASS 1/1 77 SYNONYMOUS_CODING LOW None 0.47391 0.47390 0.38938 None None None None None None ATP2B3|0.203946244|36.25%

ATP6AP1

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs28497482
dbSNP Clinvar
153657083 1879.77 A G PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.89351 0.89350 0.09485 None None None None None None ATP6AP1|0.067534855|57.98%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs4826245
dbSNP Clinvar
77298857 244.8 G A PASS 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ATP7A|0.267298986|30.07%

ATXN3L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs4830842
dbSNP Clinvar
13337059 1387.77 C T PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.65351 0.65350 0.47569 1.00 0.00 -1.16 None None None None None None ATXN3L|0.001386148|93.42%

AVPR2

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs5201
dbSNP Clinvar
153171993 2106.77 A G PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.68848 0.68850 0.49778 -1.32 None None None None None None L1CAM|0.504864866|15.59%,AVPR2|0.577522936|12.7%

BCORL1

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs4830173
dbSNP Clinvar
129147079 3296.77 T C PASS 1/1 85 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs7557
dbSNP Clinvar
102564583 2552.77 A G PASS 1/1 64 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs4833
dbSNP Clinvar
152770230 3181.77 G A PASS 1/1 79 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs3122407
dbSNP Clinvar
79943569 1018.77 T C PASS 1/1 23 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98967 0.98970 0.00975 1.00 0.00 0.49 None None None None None None BRWD3|0.286279937|28.63%

BTK

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1135363
dbSNP Clinvar
100608191 1023.77 G A PASS 1/1 27 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50808 0.50810 0.39042 None None None None None None BTK|0.867331978|4.3%

CA5B

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1808
dbSNP Clinvar
15800751 1637.77 G A PASS 1/1 45 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2428577
dbSNP Clinvar
133379551 587.77 C T PASS 1/1 17 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CCDC160|0.006302974|84.27%

COL4A6

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs4623610
dbSNP Clinvar
107418906 752.77 A G PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.98384 0.98380 0.01695 None None None None None None COL4A6|0.130757642|45.78%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2295912
dbSNP Clinvar
107413930 2052.77 G A PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.07762 0.07762 0.05794 None None None None None None COL4A6|0.130757642|45.78%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1042065
dbSNP Clinvar
107433688 1655.77 A G PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.57325 0.57320 0.25741 1.00 0.00 1.19 None None None None None None COL4A6|0.130757642|45.78%

CPXCR1

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs5940915
dbSNP Clinvar
88008423 912.77 A C PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.91364 0.91360 0.09442 1.00 0.00 0.95 None None None None None None CPXCR1|0.001467264|92.95%

CSAG1

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2515848
dbSNP Clinvar
151909156 902.77 A G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.57642 0.57640 0.36315 0.55 0.00 None None None None None None CSAG1|0.000765743|96.9%

CT45A5

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2034920
dbSNP Clinvar
134948034 877.77 A G PASS 1/1 25 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%

CT47B1

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs871733
dbSNP Clinvar
120008979 1485.77 T C PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.67894 0.67890 0.37382 None None None None None None CT47B1|0.000279084|99.49%

CXorf21

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs887369
dbSNP Clinvar
30577846 2294.77 A C PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.89722 0.89720 0.19572 None None None None None None CXorf21|0.11528982|48.25%

CXorf38

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs6610447
dbSNP Clinvar
40506697 1961.77 A G PASS 1/1 50 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs12116111
dbSNP Clinvar
148628490 509.22 A T PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.94252 0.94250 None None None None None None CXorf40A|0.004189314|86.75%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs626560
dbSNP Clinvar
148627384 627.11 A G PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.94013 0.94010 1.00 0.00 None None None None None None CXorf40A|0.004189314|86.75%

CXorf56

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs5910611
dbSNP Clinvar
118678364 1109.77 G A PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.60583 0.60580 0.42658 None None None None None None CXorf56|0.412595461|20.01%

CXorf64

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2269777
dbSNP Clinvar
125955428 1664.77 G A PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.31205 0.31210 0.37444 None None None None None None PRR32|0.002165243|90.54%

CYLC1

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs142474490
dbSNP Clinvar
83116204 1369.77 G C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.01430 0.01430 0.00881 0.28 0.66 -0.24 None None None None None None CYLC1|0.003084376|88.52%

CYSLTR1

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs320995
dbSNP Clinvar
77528317 1028.77 G A PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.66305 0.66300 0.25994 None None None None None None CYSLTR1|0.093771876|52.42%

DACH2

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs146550500
dbSNP Clinvar
85950085 1756.77 C G PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.00079 0.00079 0.00047 None None None None None None DACH2|0.697778795|8.56%

DKC1

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2728532
dbSNP Clinvar
153994596 2048.77 G T PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.99258 0.99260 0.00814 None None None None None None DKC1|0.779908958|6.32%

DLG3

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2281868
dbSNP Clinvar
69668463 2996.77 A G PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.57616 0.57620 0.18 0.00 0.68 None None None None None None DLG3|0.532941322|14.46%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs228406
dbSNP Clinvar
32503194 2100.77 T C PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.74834 0.74830 0.34978 0.48 0.00 0.63 None None None None None None DMD|0.999751041|0.27%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1801187
dbSNP Clinvar
32380996 1430.77 C T PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.46517 0.46520 0.33311 0.07 0.74 6.79 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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1130929
dbSNP Clinvar
153633359 3193.77 G C PASS 1/1 81 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%

DYNLT3

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs11771
dbSNP Clinvar
37701048 525.77 G A PASS 1/1 14 SYNONYMOUS_CODING LOW None 0.35099 0.35100 0.33302 None None None None None None DYNLT3|0.107397207|49.7%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1385699
dbSNP Clinvar
65824986 2814.77 C T PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.66543 0.66540 0.44012 0.84 0.00 1.45 None None None None None None EDA2R|0.057303601|60.61%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1385698
dbSNP Clinvar
65822607 1406.77 T C PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.92901 0.92900 0.08077 0.38 0.00 -0.23 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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs16997659
dbSNP Clinvar
24075862 1148.77 A G PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.10225 0.10230 0.11578 0.50 0.01 1.23 None None None None None None EIF2S3|0.31714361|26.3%

ENOX2

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs548319020
dbSNP Clinvar
129759309 860.77 G A PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.00079 0.00079 None None None None None None ENOX2|0.580447853|12.56%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1367830
dbSNP Clinvar
57475132 1780.77 T C PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.47073 0.47070 0.49181 None None None None None None FAAH2|0.005909057|84.68%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs4826543
dbSNP Clinvar
57405163 3160.77 T C PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.91815 0.91810 0.08823 None None None None None None FAAH2|0.005909057|84.68%

FAM104B

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1047034
dbSNP Clinvar
55172708 3608.77 T G PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.03 0.85 0.01 0.29962 T None None None None FAM104B|0.001440975|93.08%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1047054
dbSNP Clinvar
55172537 5493.77 G A PASS 1/1 150 None None None 9.00 None None None None None None FAM104B|0.001440975|93.08%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1047042
dbSNP Clinvar
55172645 7022.77 C T PASS 0/1 186 NON_SYNONYMOUS_CODING MODERATE None 0.00132 0.00133 0.84 0.00 -0.94 0.00 0.06609 T None None None None FAM104B|0.001440975|93.08%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1047037
dbSNP Clinvar
55172687 5862.77 T C PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.18 0.00 -0.96 0.00 0.10043 T None None None None FAM104B|0.001440975|93.08%

FAM120C

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2495783
dbSNP Clinvar
54209387 1966.77 A G PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None FAM120C|0.175300288|39.59%

FAM155B

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1171942
dbSNP Clinvar
68725640 1139.78 T C PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.64318 0.64320 0.48702 0.30 0.00 -0.77 None None None None None None FAM155B|0.652325515|10.02%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1113265
dbSNP Clinvar
79698593 1952.77 C G PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.37245 0.37250 0.40570 1.00 0.00 -2.38 None None None None None None FAM46D|0.04862911|63.07%

FAM47C

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs61999275
dbSNP Clinvar
37028629 2118.77 G C PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.11868 0.11870 0.06970 1.00 0.01 -0.17 None None None None None None FAM47C|0.000799995|96.66%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1995914
dbSNP Clinvar
37029254 1371.77 A C PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.36980 0.36980 0.35735 0.96 0.00 -3.95 None None None None None None FAM47C|0.000799995|96.66%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs73631164
dbSNP Clinvar
37028127 2192.77 A G PASS 1/1 105 SYNONYMOUS_CODING LOW None 0.37616 0.37620 0.35565 None None None None None None FAM47C|0.000799995|96.66%

FGF13

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs34825181
dbSNP Clinvar
138067202 494.77 A G PASS 1/1 13 None None None 0.68291 0.68290 0.26079 None None None None None None FGF13|0.912569109|3.18%

FMR1

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs25707
dbSNP Clinvar
147010320 671.77 G A PASS 1/1 18 SYNONYMOUS_CODING LOW None 0.09960 0.09960 0.11163 None None None None None None FMR1|0.940937361|2.45%

FOXR2

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2375465
dbSNP Clinvar
55651001 2614.77 T C PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.81166 0.81170 0.19862 1.00 0.00 -1.85 None None None None None None FOXR2|0.00232069|90.12%

FRMD7

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs6637934
dbSNP Clinvar
131212642 1440.77 C T PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.07073 0.07073 0.06381 0.09 0.12 4.33 None None None None None None FRMD7|0.288627702|28.47%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs5977623
dbSNP Clinvar
131212512 1786.77 A G PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.26066 0.26070 0.35605 None None None None None None FRMD7|0.288627702|28.47%

FRMPD4

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs67823099
dbSNP Clinvar
12734585 2731.77 T C PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.09801 0.09801 0.10196 None None None None None None FRMPD4|0.326594938|25.72%

GABRE

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs1139916
dbSNP Clinvar
151138179 1299.77 A C PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.70649 0.70650 0.38995 0.15 0.42 1.19 None None None None None None GABRE|0.027020862|70.86%

GABRQ

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs3810651
dbSNP Clinvar
151821277 2839.77 T A PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.43550 0.43550 1.00 0.00 None None None None None None GABRQ|0.013640362|78.1%

GDI1

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs782136459
dbSNP Clinvar
153668469 2429.77 G A PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.00742 0.00742 None None None None None None GDI1|0.264243897|30.35%

GDPD2

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 62388010_s7 mvar 62388010_S7.SAMTOOLS X rs2296542
dbSNP Clinvar
69652762 1262.77 A G PASS 1/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.85192 0.85190 0.17012 None None None None None None GDPD2|0.107206407|49.75%