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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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Genes at Omim

AMELX, AR, ARSE, ATP11C, ATP2B3, ATP7A, AVPR2, BGN, BRWD3, CACNA1F, CCDC22, CLCN5, COL4A6, CXorf56, DIAPH2, DKC1, DLG3, DMD, EIF2S3, FLNA, FRMPD4, G6PD, GDI1, GRIA3, HUWE1, IGSF1, KAL1, KIF4A, MAOA, MED12, NHS, NR0B1, NSDHL, NYX, OPN1LW, PDHA1, POU3F4, PTCHD1, RBMX, SLC16A2, TEX11, UBA1, VMA21, XG,
AMELX Amelogenesis imperfecta, type 1E, 301200 (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)
ARSE Chondrodysplasia punctata, X-linked recessive, 302950 (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)
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)
CACNA1F Aland Island eye disease, 300600 (3)
Cone-rod dystrophy, X-linked, 3, 300476 (3)
Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)
CCDC22 Ritscher-Schinzel syndrome 2, 300963 (3)
CLCN5 Hypophosphatemic rickets, 300554 (3)
Dent disease, 300009 (3)
Nephrolithiasis, type I, 310468 (3)
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
CXorf56 ?Mental retardation, X-linked 107, 301013 (3)
DIAPH2 ?Premature ovarian failure 2A, 300511 (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)
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)
FRMPD4 Mental retardation, X-linked 104, 300983 (3)
G6PD Hemolytic anemia, G6PD deficient (favism), 300908 (3)
{Resistance to malaria due to G6PD deficiency}, 611162 (3)
GDI1 Mental retardation, X-linked 41, 300849 (3)
GRIA3 Mental retardation, X-linked 94, 300699 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888 (3)
KAL1 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)
KIF4A ?Mental retardation, X-linked 100, 300923 (3)
MAOA Brunner syndrome, 300615 (3)
{Antisocial behavior}, 300615 (3)
MED12 Lujan-Fryns syndrome, 309520 (3)
Ohdo syndrome, X-linked, 300895 (3)
Opitz-Kaveggia syndrome, 305450 (3)
NHS Cataract 40, X-linked, 302200 (3)
Nance-Horan syndrome, 302350 (3)
NR0B1 Adrenal hypoplasia, congenital, 300200 (3)
46XY sex reversal 2, dosage-sensitive, 300018 (3)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (3)
NYX Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)
OPN1LW Blue cone monochromacy, 303700 (3)
Colorblindness, protan, 303900 (3)
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (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)
SLC16A2 Allan-Herndon-Dudley syndrome, 300523 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
UBA1 Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
VMA21 Myopathy, X-linked, with excessive autophagy, 310440 (3)
XG [Blood group, XG system] (3)

Genes at Clinical Genomics Database

AMELX, AR, ARSE, ATP2B3, ATP7A, AVPR2, BRWD3, CACNA1F, CCDC22, CLCN5, COL4A6, DIAPH2, DKC1, DLG3, DMD, FLNA, G6PD, GDI1, GRIA3, HUWE1, IGSF1, KIF4A, MAOA, MED12, NHS, NR0B1, NSDHL, NYX, OPN1LW, PDHA1, POU3F4, PTCHD1, RBMX, SLC16A2, TEX11, UBA1, VMA21, XG,
AMELX Amelogenesis imperfecta, type 1E
AR Androgen insensitivity
Androgen insensitivity, partial
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
CACNA1F Aland Island eye disease
Cone-rod dystrophy, X-linked, 3
Night blindness, congenital stationary, X-linked, type 2A
CCDC22 Ritscher-Schinzel syndrome 2
CLCN5 Dent disease 1
Hypophosphatemic rickets, X-linked recessive
Nephrolithiasis, type I
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
COL4A6 Deafness, X-linked, with cochlear malformation
DIAPH2 Premature ovarian failure 2A
DKC1 Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
DLG3 Mental retardation, X-linked 90
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
G6PD Glucose-6-phosphate dehydrogenase deficiency
GDI1 Mental retardation, X-linked 41
GRIA3 Mental retardation, X-linked 94
HUWE1 Mental retardation, X-linked syndromic, Turner type
IGSF1 Central hypothyroidism and testicular enlargement
KIF4A Mental retardation, X-linked 100
MAOA Brunner syndrome
MED12 Lujan-Fryns syndrome
Opitz-Kaveggia syndrome
Mental retardation, X-linked, with Marfanoid habitus
FG syndrome
Ohdo syndrome
NHS Nance-Horan syndrome
Cataract 40
NR0B1 Adrenal hypoplasia, congenital
46,XY sex reversal 2
NSDHL Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
NYX Night blindness, congenital stationary, type 1A
OPN1LW Colorblindness, partial, protan series
Blue cone monochromacy
Red cone polymorphism
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome, X-linked
POU3F4 Deafness, X-linked 2
PTCHD1 Autism susceptibility, X-linked 4
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
SLC16A2 Allan-Herndon-Dudley syndrome
TEX11 Spermatogenic failure, X-linked 2
UBA1 Spinal muscular atrophy, X-linked 2, infantile
VMA21 Myopathy, X-linked, with excessive autophagy
XG XG blood group

Genes at HGMD

Summary

Number of Variants: 1979
Number of Genes: 174

Export to: CSV

AC002365.1

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 index31 X rs5934730
dbSNP Clinvar
9935526 1822.77 G T . 1/1 57 SYNONYMOUS_CODING LOW None 0.42967 0.42970 None None None None None None None
View index31 X rs5934731
dbSNP Clinvar
9935844 1515.77 C T . 1/1 48 SYNONYMOUS_CODING LOW None 0.51656 0.51660 None None None None None None None

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 index31 X rs2106416
dbSNP Clinvar
11316742 786.77 C T . 1/1 28 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%

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 index31 X rs772149730
dbSNP Clinvar
66765158 890.73 TG... T . 1/1 44 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 index31 X rs2070097
dbSNP Clinvar
153176254 330.22 A G . 1/1 13 SYNONYMOUS_CODING LOW None 0.70490 0.70490 0.44202 None None None None None None ARHGAP4|0.028368935|70.27%

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 index31 X rs6523438
dbSNP Clinvar
100245606 1349.77 A G . 1/1 51 None None None 0.85642 0.85640 0.16250 None None None None None None ARL13A|0.006011211|84.59%
View index31 X rs3934462
dbSNP Clinvar
100243459 1309.77 G T . 1/1 45 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%

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 index31 X rs3850315
dbSNP Clinvar
100911066 1344.77 C T . 1/1 41 SYNONYMOUS_CODING LOW None 0.96689 0.96690 0.05737 None None None None None None ARMCX2|0.023937868|72.22%

ARMCX3

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 index31 X rs3205455
dbSNP Clinvar
100880857 1076.78 G A . 0/1 40 SYNONYMOUS_CODING LOW None 0.09801 0.09801 0.09603 None None None None None None ARMCX3|0.153071588|42.52%

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 index31 X rs5951332
dbSNP Clinvar
100743826 963.77 A G . 1/1 33 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 index31 X rs6621080
dbSNP Clinvar
100743546 681.78 C T . 0/1 30 None None None 0.12477 0.12480 None None None None None None ARMCX4|0.006015436|84.57%
View index31 X rs3174476
dbSNP Clinvar
100749585 685.77 C T . 1/1 23 SYNONYMOUS_CODING LOW None 0.44106 0.44110 None None None None None None ARMCX4|0.006015436|84.57%
View index31 X rs5991911
dbSNP Clinvar
100748078 3133.77 A G . 1/1 99 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 index31 X rs963618
dbSNP Clinvar
100743037 794.77 C T . 1/1 27 START_GAINED LOW None 0.65987 0.65990 None None None None None None ARMCX4|0.006015436|84.57%
View index31 X rs5951333
dbSNP Clinvar
100745825 1407.77 T C . 1/1 45 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 index31 X rs5951336
dbSNP Clinvar
100749127 291.78 A G . 1/1 11 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%

ARMCX6

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 index31 X rs35319186
dbSNP Clinvar
100871148 593.77 T C . 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.09828 0.09828 0.09144 0.18 0.14 1.50 None None None None None None ARMCX6|0.016865136|75.97%

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 index31 X rs115332247
dbSNP Clinvar
2833643 661.77 C A . 0/1 73 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 index31 X rs73632978
dbSNP Clinvar
2836238 155.77 G A . 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.05 -0.05 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs73632977
dbSNP Clinvar
2836211 336.77 A T . 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.90 2.19 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs73632976
dbSNP Clinvar
2836184 559.77 C T . 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.85 5.83 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs73632975
dbSNP Clinvar
2836181 592.77 A T . 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.11 2.62 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs150899882
dbSNP Clinvar
2835995 228.77 C A . 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.90 0.00 -1.02 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs67272620
dbSNP Clinvar
2836041 482.77 A T . 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 -1.37 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs377542415
dbSNP Clinvar
2833631 505.77 A G . 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs370769167
dbSNP Clinvar
2833638 507.77 C T . 0/1 66 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 index31 X rs73632972
dbSNP Clinvar
2835964 494.77 G A . 0/1 52 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs748243474
dbSNP Clinvar
2835985 238.77 G A . 0/1 47 SYNONYMOUS_CODING LOW None 0.00371 0.00371 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs143238998
dbSNP Clinvar
2835989 232.77 A C . 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.00371 0.00371 0.05 0.08 0.15 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs755296450
dbSNP Clinvar
2835993 250.77 G A . 0/1 43 SYNONYMOUS_CODING LOW None 0.00371 0.00371 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs211653
dbSNP Clinvar
2836037 750.77 G C . 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.40636 0.40640 0.44466 0.13 0.08 -0.02 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs113556864
dbSNP Clinvar
2835998 1064.73 CC... C . 0/1 43 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.18295 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs111939179
dbSNP Clinvar
2833605 476.77 C T . 0/1 44 STOP_GAINED HIGH None 10.47 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs73632974
dbSNP Clinvar
2836138 688.77 G A . 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs73632973
dbSNP Clinvar
2836084 700.77 C G . 0/1 51 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs373216270
dbSNP Clinvar
2833628 462.77 A C . 0/1 59 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs113318393
dbSNP Clinvar
2836060 502.77 G A . 0/1 47 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View index31 X rs67359049
dbSNP Clinvar
2836047 581.77 C T . 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.77 1.18 None None None None None None ARSD|0.001611053|92.29%
View index31 X rs78034736
dbSNP Clinvar
2835863 267.77 G T . 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 5.25 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 index31 X rs11222
dbSNP Clinvar
2852951 345.77 G A . 1/1 13 SYNONYMOUS_CODING LOW None 0.56583 0.56580 0.45809 None None None None None None ARSE|0.002669381|89.33%
View index31 X rs35143646
dbSNP Clinvar
2856155 496.77 C T . 1/1 16 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%

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 index31 X rs2491014
dbSNP Clinvar
138897130 215.8 A C . 1/1 7 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 index31 X . 152845631 65.77 A C . 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 4.97 0.90 0.99221 D None None None None ATP2B3|0.203946244|36.25%
View index31 X rs3020949
dbSNP Clinvar
152815089 1428.77 A G . 1/1 45 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 index31 X rs4826245
dbSNP Clinvar
77298857 438.77 G A . 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None rs4826245 2 not_specified None ATP7A|0.267298986|30.07%

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 index31 X rs4830842
dbSNP Clinvar
13337059 1613.77 C T . 1/1 54 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View index31 X rs5201
dbSNP Clinvar
153171993 2401.77 A G . 1/1 80 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
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View index31 X rs4830173
dbSNP Clinvar
129147079 1649.77 T C . 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None BCORL1|0.202266088|36.48%

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 index31 X rs1126499
dbSNP Clinvar
152771509 921.77 C T . 1/1 33 SYNONYMOUS_CODING LOW None 0.33536 0.33540 0.35624 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 index31 X rs3122407
dbSNP Clinvar
79943569 1364.77 T C . 1/1 41 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%

CACNA1F

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 index31 X rs2235127
dbSNP Clinvar
49081291 875.77 G A . 1/1 32 SYNONYMOUS_CODING LOW None 0.44053 0.44050 0.33374 None None None None None None CACNA1F|0.172930076|39.96%
View index31 X rs2075866
dbSNP Clinvar
49071964 857.77 A G . 1/1 27 SYNONYMOUS_CODING LOW None 0.55205 0.55210 0.45565 None None None None None None CACNA1F|0.172930076|39.96%

CAPN6

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 index31 X rs12013711
dbSNP Clinvar
110494841 834.77 C G . 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.19603 0.19600 0.24198 1.00 0.00 0.81 None None None None None None CAPN6|0.398354771|20.87%
View index31 X rs17882737
dbSNP Clinvar
110496391 1530.77 G A . 1/1 53 SYNONYMOUS_CODING LOW None 0.08318 0.08318 0.09410 None None None None None None CAPN6|0.398354771|20.87%

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 index31 X rs2428577
dbSNP Clinvar
133379551 1714.77 C T . 1/1 58 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CCDC160|0.006302974|84.27%

CCDC22

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 index31 X rs2294020
dbSNP Clinvar
49103224 625.77 G A . 1/1 21 SYNONYMOUS_CODING LOW None 0.46623 0.46620 0.37489 None None None None None None CCDC22|0.132061966|45.6%

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 index31 X rs3012627
dbSNP Clinvar
71521867 1664.77 G C . 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.80927 0.80930 0.08629 1.00 0.00 -0.50 None None None None None None PIN4|0.129268487|45.97%,CITED1|0.122175989|47.09%

CLCN5

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 index31 X . 49807060 482.88 G A . 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.58 0.29 3.21 0.24 0.88743 D None None None None CLCN5|0.568612204|13.07%

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 index31 X rs1266719
dbSNP Clinvar
107437848 1074.77 G C . 1/1 32 None None None 0.44980 0.44980 0.36476 0.95 0.00 None None None None None None COL4A6|0.130757642|45.78%
View index31 X rs1042065
dbSNP Clinvar
107433688 1562.77 A G . 1/1 50 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%
View index31 X rs4623610
dbSNP Clinvar
107418906 1327.77 A G . 1/1 46 SYNONYMOUS_CODING LOW None 0.98384 0.98380 0.01695 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 index31 X rs5940915
dbSNP Clinvar
88008423 604.77 A C . 1/1 19 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%
View index31 X rs5984611
dbSNP Clinvar
88008807 1396.77 G A . 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.23046 0.23050 0.32926 0.63 0.50 2.28 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 index31 X rs1894360,rs796367357
dbSNP Clinvar
151908845 1009.77 C G . 1/1 35 STOP_GAINED HIGH None 0.09987 0.09987 0.13065 None None None None None None CSAG1|0.000765743|96.9%
View index31 X rs1894359,rs796678256
dbSNP Clinvar
151908844 949.77 A T . 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.09987 0.09987 0.12923 0.09 0.00 None None None None None None CSAG1|0.000765743|96.9%
View index31 X rs2515848
dbSNP Clinvar
151909156 1426.77 A G . 1/1 46 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
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View index31 X rs2034920
dbSNP Clinvar
134948034 442.85 A G . 1/1 16 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
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View index31 X rs871733
dbSNP Clinvar
120008979 536.79 T C . 1/1 19 SYNONYMOUS_CODING LOW None 0.67894 0.67890 0.37382 None None None None None None CT47B1|0.000279084|99.49%

CTAG2

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 index31 X rs148711831
dbSNP Clinvar
153881531 1110.56 G A . 1/1 43 SYNONYMOUS_CODING LOW None 0.02199 0.02199 0.01184 None None None None None None CTAG2|0.000106023|99.93%

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 index31 X rs887369
dbSNP Clinvar
30577846 1426.77 A C . 1/1 45 SYNONYMOUS_CODING LOW None 0.89722 0.89720 0.19572 None None None None None None CXorf21|0.11528982|48.25%

CXorf27

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 index31 X rs17146924
dbSNP Clinvar
37850263 918.77 C T . 1/1 31 SYNONYMOUS_CODING LOW None 0.02172 0.02172 0.01404 None None None None None None HYPM|0.000043663|100%

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 index31 X rs6610447
dbSNP Clinvar
40506697 562.77 A G . 1/1 19 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 index31 X rs12116111
dbSNP Clinvar
148628490 275.78 A T . 1/1 22 SYNONYMOUS_CODING LOW None 0.94252 0.94250 None None None None None None CXorf40A|0.004189314|86.75%
View index31 X rs626560
dbSNP Clinvar
148627384 808.77 A G . 1/1 43 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
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View index31 X rs5910611
dbSNP Clinvar
118678364 492.77 G A . 1/1 15 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
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View index31 X rs12835991
dbSNP Clinvar
125954964 1292.77 C G . 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.05007 0.05007 0.07306 0.05 0.77 0.73 None None None None None None PRR32|0.002165243|90.54%

CXorf65

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 index31 X rs1130009
dbSNP Clinvar
70324157 1266.77 C T . 1/1 42 SYNONYMOUS_CODING LOW None 0.11179 0.11180 0.22683 None None None None None None CXorf65|0.013213084|78.35%

CYLC1

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 index31 X rs140033406
dbSNP Clinvar
83141579 1355.77 A G . 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.02013 0.02013 0.00521 0.44 0.05 0.56 None None None None None None CYLC1|0.003084376|88.52%

CYSLTR1

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 index31 X rs320995
dbSNP Clinvar
77528317 1014.77 G A . 1/1 33 SYNONYMOUS_CODING LOW None 0.66305 0.66300 0.25994 None None None None None None CYSLTR1|0.093771876|52.42%

DCAF8L2

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 index31 X rs5926895
dbSNP Clinvar
27766045 892.77 A G . 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.16609 0.16610 0.29167 0.53 0.01 0.92 None None None None None None DCAF8L2|0.000974393|95.61%
View index31 X rs45553337
dbSNP Clinvar
27766776 766.77 G A . 1/1 28 SYNONYMOUS_CODING LOW None 0.16424 0.16420 0.25583 None None None None None None DCAF8L2|0.000974393|95.61%
View index31 X rs780900137,rs777672943
dbSNP Clinvar
27765399 2483.73 AG... A . 1/1 42 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DCAF8L2|0.000974393|95.61%

DIAPH2

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 index31 X . 96639021 190.84 A G . 1/1 6 SYNONYMOUS_CODING LOW None None None None None None None DIAPH2|0.871794471|4.17%

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 index31 X rs2728532
dbSNP Clinvar
153994596 411.77 G T . 1/1 14 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 index31 X rs2281868
dbSNP Clinvar
69668463 911.77 A G . 1/1 31 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 index31 X rs1800279
dbSNP Clinvar
31496398 924.77 T C . 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.01483 0.01483 0.02055 0.61 0.00 -0.11 None None rs1800279 5|2|2 Becker_muscular_dystrophy|not_specified|not_provided None DMD|0.999751041|0.27%
View index31 X rs228406
dbSNP Clinvar
32503194 1164.77 T C . 1/1 40 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 index31 X rs1800280
dbSNP Clinvar
31496350 1194.77 C T . 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.88185 0.88190 0.04318 1.00 0.00 2.14 None None None None None None DMD|0.999751041|0.27%
View index31 X rs1801187
dbSNP Clinvar
32380996 794.77 C T . 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.46517 0.46520 0.33311 0.07 0.74 6.79 None None rs1801187 2|2 not_specified|not_provided None DMD|0.999751041|0.27%
View index31 X rs1800275
dbSNP Clinvar
31893307 682.77 T G . 1/1 21 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18331 0.18330 0.20464 0.51 0.08 1.90 None None None None None None DMD|0.999751041|0.27%

DOCK11

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 index31 X rs2286977
dbSNP Clinvar
117700141 765.77 A G . 1/1 24 SYNONYMOUS_CODING LOW None 0.38649 0.38650 0.30257 None None None None None None DOCK11|0.510737136|15.35%

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 index31 X rs1385698
dbSNP Clinvar
65822607 190.84 T C . 1/1 7 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%
View index31 X rs1385699
dbSNP Clinvar
65824986 887.77 C T . 1/1 29 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%

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 index31 X rs36018672
dbSNP Clinvar
24073761 1042.77 C T . 1/1 35 SYNONYMOUS_CODING LOW None 0.36318 0.36320 0.49986 None None rs36018672 3 not_specified None EIF2S3|0.31714361|26.3%

ELF4

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 index31 X rs2181440
dbSNP Clinvar
129201179 1253.77 C T . 1/1 47 SYNONYMOUS_CODING LOW None 0.20450 0.20450 0.19015 None None None None None None ELF4|0.110553761|49.1%

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 index31 X rs2516023
dbSNP Clinvar
57313357 248.78 T C . 1/1 8 SYNONYMOUS_CODING LOW None 0.52980 0.52980 0.48973 None None None None None None FAAH2|0.005909057|84.68%
View index31 X rs4826543
dbSNP Clinvar
57405163 727.77 T C . 1/1 24 SYNONYMOUS_CODING LOW None 0.91815 0.91810 0.08823 None None None None None None FAAH2|0.005909057|84.68%

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 index31 X rs199613759
dbSNP Clinvar
54177771 410.77 G A . 1/1 15 SYNONYMOUS_CODING LOW None 0.00026 0.00026 0.00019 None None None None None None FAM120C|0.175300288|39.59%
View index31 X rs2495783
dbSNP Clinvar
54209387 678.77 A G . 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None FAM120C|0.175300288|39.59%

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 index31 X rs2498776
dbSNP Clinvar
134185997 911.77 T A . 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.00026 0.72080 0.20301 0.01 0.05 3.02 None None None None None None FAM127B|0.010606007|80.43%