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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

AFF2, ARSE, ATP11C, ATP2B3, ATP6AP1, ATP7A, AVPR2, BCOR, BGN, BRWD3, COL4A6, CXorf56, DKC1, DLG3, DMD, EIF2S3, F9, FANCB, GPR101, HUWE1, IGSF1, MAGED2, NR0B1, NSDHL, POU3F4, PTCHD1, RLIM, TAF1, TAZ, TBX22, TEX11, UBA1, XG, XIAP,
AFF2 Mental retardation, X-linked, FRAXE type, 309548 (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)
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)
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)
F9 Hemophilia B, 306900 (3)
{Warfarin sensitivity}, 122700 (3)
Thrombophilia, X-linked, due to factor IX defect, 300807 (3)
{Deep venous thrombosis, protection against}, 300807 (3)
FANCB Fanconi anemia, complementation group B, 300514 (3)
GPR101 Pituitary adenoma 2, GH-secreting, 300943 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888 (3)
MAGED2 Bartter syndrome, type 5, antenatal, transient, 300971 (3)
NR0B1 Adrenal hypoplasia, congenital, 300200 (3)
46XY sex reversal 2, dosage-sensitive, 300018 (3)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (3)
POU3F4 Deafness, X-linked 2, 304400 (3)
PTCHD1 {Autism, susceptibility to, X-linked 4}, 300830 (3)
RLIM Tonne-Kalscheuer syndrome, 300978 (3)
TAF1 Dystonia-Parkinsonism, X-linked, 314250 (3)
Mental retardation, X-linked, syndromic 33, 300966 (3)
TAZ Barth syndrome, 302060 (3)
TBX22 Cleft palate with ankyloglossia, 303400 (3)
?Abruzzo-Erickson syndrome, 302905 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (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

AFF2, ARSE, ATP2B3, ATP7A, AVPR2, BCOR, BRWD3, COL4A6, DKC1, DLG3, DMD, F9, FANCB, GPR101, HUWE1, IGSF1, MAGED2, NLGN4X, NR0B1, NSDHL, POF1B, POU3F4, PTCHD1, TAF1, TAZ, TBX22, TEX11, UBA1, XG, XIAP,
AFF2 Premature ovarian failure
ARSE Chondrodysplasia punctata 1, X-linked recessive
ATP2B3 Spinocerebellar ataxia, X-linked 1
ATP7A Menkes disease
AVPR2 Diabetes insipidus, nephrogenic, X-linked
BCOR Microphthalmia, syndromic 2
Oculofaciocardiodental syndrome
BRWD3 Mental retardation, X-linked 93
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
F9 Hemophilia B
Thrombophilia, X-linked, due to factor IX defect
Warfarin sensitivity
FANCB Fanconi anemia,complementation group B
GPR101 Pituitary adenoma, growth hormone secreting, 2
HUWE1 Mental retardation, X-linked syndromic, Turner type
IGSF1 Central hypothyroidism and testicular enlargement
MAGED2 Bartter syndrome type 5, antenatal transient
NLGN4X Asperger syndrome, X-linked 2
Autism, X-linked 2
Mental retardation, X-linked
NR0B1 Adrenal hypoplasia, congenital
46,XY sex reversal 2
NSDHL Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
POF1B Premature ovarian failure 2B
POU3F4 Deafness, X-linked 2
PTCHD1 Autism susceptibility, X-linked 4
TAF1 Dystonia 3, torsion, X-linked
Mental retardation, X-linked, syndromic 33
TAZ 3-Methylglutaconic aciduria, type II (Barth syndrome)
TBX22 Cleft palate with or without ankyloglossia
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: 484
Number of Genes: 145

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 dxc01 snp X rs5934730
dbSNP Clinvar
9935526 1137.77 G T PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.42967 0.42970 None None None None None None None
View dxc01 snp X rs5934731
dbSNP Clinvar
9935844 895.77 C T PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.51656 0.51660 None None None None None None None

AFF2

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 dxc01 snp X rs241084
dbSNP Clinvar
147800748 210.78 A G PASS 1/1 8 None None None 0.28106 0.28110 0.30 0.00 None None None None None None AFF2|0.928741292|2.76%

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 dxc01 snp X rs2070097
dbSNP Clinvar
153176254 367.77 A G PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.70490 0.70490 0.44202 None None None None None None ARHGAP4|0.028368935|70.27%

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 dxc01 snp X rs1009758
dbSNP Clinvar
11157535 143.84 G C PASS 1/1 6 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 dxc01 snp X rs6523438
dbSNP Clinvar
100245606 881.77 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%
View dxc01 snp X rs3934462
dbSNP Clinvar
100243459 708.77 G T PASS 1/1 23 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 dxc01 snp X rs3850315
dbSNP Clinvar
100911066 380.77 C T PASS 1/1 14 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 dxc01 snp X rs5991911
dbSNP Clinvar
100748078 610.77 A G PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View dxc01 snp X rs5951333
dbSNP Clinvar
100745825 476.81 T C PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.66199 0.66200 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View dxc01 snp X rs5951336
dbSNP Clinvar
100749127 564.77 A G PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.69166 0.69170 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View dxc01 snp X rs963618
dbSNP Clinvar
100743037 580.77 C T PASS 1/1 21 START_GAINED LOW None 0.65987 0.65990 None None None None None None ARMCX4|0.006015436|84.57%
View dxc01 snp X rs3174476
dbSNP Clinvar
100749585 367.77 C T PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.44106 0.44110 None None None None None None ARMCX4|0.006015436|84.57%
View dxc01 snp X rs5951332
dbSNP Clinvar
100743826 865.77 A G PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.61934 0.61930 0.00 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 dxc01 snp X rs73632978
dbSNP Clinvar
2836238 227.77 G A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.09 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs377542415
dbSNP Clinvar
2833631 82.77 A G PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs370769167
dbSNP Clinvar
2833638 82.77 C T PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs115332247
dbSNP Clinvar
2833643 82.77 C A PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.01 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs78034736
dbSNP Clinvar
2835863 225.77 G T PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs73632972
dbSNP Clinvar
2835964 533.77 G A PASS 0/1 33 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs748243474
dbSNP Clinvar
2835985 577.77 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.00371 0.00371 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs143238998
dbSNP Clinvar
2835989 577.77 A C PASS 0/1 36 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 dxc01 snp X rs73632975
dbSNP Clinvar
2836181 652.77 A T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.15 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs73632976
dbSNP Clinvar
2836184 652.77 C T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.95 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs73632977
dbSNP Clinvar
2836211 257.77 A T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.64 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs755296450
dbSNP Clinvar
2835993 493.77 G A PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.00371 0.00371 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs150899882
dbSNP Clinvar
2835995 451.77 C A PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.90 0.00 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs67272620
dbSNP Clinvar
2836041 514.77 A T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs67359049
dbSNP Clinvar
2836047 556.77 C T PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.33 None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs113318393
dbSNP Clinvar
2836060 559.77 G A PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs73632973
dbSNP Clinvar
2836084 637.77 C G PASS 0/1 33 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View dxc01 snp X rs73632974
dbSNP Clinvar
2836138 453.77 G A PASS 0/1 30 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 dxc01 snp X rs11222
dbSNP Clinvar
2852951 227.78 G A PASS 1/1 9 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 dxc01 snp X rs5983003
dbSNP Clinvar
3002687 399.77 A G PASS 1/1 15 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 dxc01 snp X rs5939407
dbSNP Clinvar
2942109 368.77 T C PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.74702 0.74700 0.36846 None None None None None None ARSH|0.004353843|86.54%

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 dxc01 snp X rs2491014
dbSNP Clinvar
138897130 193.78 A C PASS 1/1 8 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 dxc01 snp X rs2269415
dbSNP Clinvar
152823728 543.77 G C PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.47391 0.47390 0.38938 None None None None None None ATP2B3|0.203946244|36.25%
View dxc01 snp X rs3020949
dbSNP Clinvar
152815089 443.77 A G PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.98543 0.98540 0.01051 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 dxc01 snp X rs28497482
dbSNP Clinvar
153657083 353.77 A G PASS 1/1 13 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 dxc01 snp X rs4826245
dbSNP Clinvar
77298857 246.78 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%

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 dxc01 snp X rs5201
dbSNP Clinvar
153171993 378.77 A G PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.68848 0.68850 0.49778 None None None None None None L1CAM|0.504864866|15.59%,AVPR2|0.577522936|12.7%

BCOR

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 dxc01 snp X rs5917933
dbSNP Clinvar
39933339 790.77 A G PASS 1/1 32 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 dxc01 snp X rs4830173
dbSNP Clinvar
129147079 376.77 T C PASS 1/1 13 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 dxc01 snp X rs4833
dbSNP Clinvar
152770230 995.77 G A PASS 1/1 37 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 dxc01 snp X rs3122407
dbSNP Clinvar
79943569 523.77 T C PASS 1/1 18 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%

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 dxc01 snp X rs2428577
dbSNP Clinvar
133379551 559.77 C T PASS 1/1 20 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CCDC160|0.006302974|84.27%

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 dxc01 snp X rs3012627
dbSNP Clinvar
71521867 677.77 G C PASS 1/1 22 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 dxc01 snp X rs35350051
dbSNP Clinvar
150909307 583.77 G T PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.12106 0.12110 0.10357 1.00 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 dxc01 snp X rs1042065
dbSNP Clinvar
107433688 375.77 A G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.57325 0.57320 0.25741 0.00 None None None None None None COL4A6|0.130757642|45.78%
View dxc01 snp X rs1266719
dbSNP Clinvar
107437848 127.03 G C PASS 1/1 4 None None None 0.44980 0.44980 0.36476 0.00 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 dxc01 snp X rs5940915
dbSNP Clinvar
88008423 426.77 A C PASS 1/1 16 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%

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 dxc01 snp X rs887369
dbSNP Clinvar
30577846 526.77 A C PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.89722 0.89720 0.19572 None None None None None None CXorf21|0.11528982|48.25%

CXorf24

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 dxc01 snp X rs2071778
dbSNP Clinvar
47343254 544.77 C T PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.24848 0.24850 0.00 None None None None None None LINC01560|0.001037144|95.23%

CXorf28

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 dxc01 snp X rs1635207
dbSNP Clinvar
3195109 394.77 C T PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.30755 0.30750 0.00 0.86 None None None None None None LINC01546|0.000622231|97.77%

CXorf38

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 dxc01 snp X rs6610447
dbSNP Clinvar
40506697 99.03 A G PASS 1/1 4 SYNONYMOUS_CODING LOW None 0.97669 0.97670 0.03974 None None None None None None CXorf38|0.065046146|58.62%

CXorf56

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 dxc01 snp X rs5910611
dbSNP Clinvar
118678364 617.77 G A PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.60583 0.60580 0.42658 None None None None None None CXorf56|0.412595461|20.01%

CXorf58

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 dxc01 snp X rs2707164
dbSNP Clinvar
23928489 336.77 C T PASS 1/1 12 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%

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 dxc01 snp X rs2728532
dbSNP Clinvar
153994596 655.77 G T PASS 1/1 22 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 dxc01 snp X rs2281868
dbSNP Clinvar
69668463 359.77 A G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.57616 0.57620 0.18 0.02 None None None None None None DLG3|0.532941322|14.46%

DMD

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 dxc01 snp X rs5927083
dbSNP Clinvar
32591931 1109.77 T C PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.11046 0.11050 0.13351 None None None None None None DMD|0.999751041|0.27%
View dxc01 snp X rs1800280
dbSNP Clinvar
31496350 910.77 C T PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.88185 0.88190 0.04318 0.00 None None None None None None DMD|0.999751041|0.27%
View dxc01 snp X rs1800275
dbSNP Clinvar
31893307 175.84 T G PASS 1/1 6 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18331 0.18330 0.20464 0.00 None None None None None None DMD|0.999751041|0.27%
View dxc01 snp X rs1801187
dbSNP Clinvar
32380996 507.77 C T PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.46517 0.46520 0.33311 0.72 None None None None None None DMD|0.999751041|0.27%
View dxc01 snp X rs228406
dbSNP Clinvar
32503194 637.77 T C PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.74834 0.74830 0.34978 0.00 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 dxc01 snp X rs1130929
dbSNP Clinvar
153633359 341.77 G C PASS 1/1 14 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 dxc01 snp X rs1385699
dbSNP Clinvar
65824986 487.77 C T PASS 1/1 18 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%

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 dxc01 snp X rs16997659
dbSNP Clinvar
24075862 576.77 A G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.10225 0.10230 0.11578 0.50 0.01 None None None None None None EIF2S3|0.31714361|26.3%

F9

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 dxc01 snp X rs6048
dbSNP Clinvar
138633280 650.77 A G PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.14570 0.14570 0.23488 0.48 0.00 None None None None None None F9|0.170306612|40.27%

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 dxc01 snp X rs4826543
dbSNP Clinvar
57405163 384.77 T C PASS 1/1 15 SYNONYMOUS_CODING LOW None 0.91815 0.91810 0.08823 None None None None None None FAAH2|0.005909057|84.68%
View dxc01 snp X rs1367830
dbSNP Clinvar
57475132 499.79 T C PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.47073 0.47070 0.49181 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 dxc01 snp X rs2495783
dbSNP Clinvar
54209387 155.8 A G PASS 1/1 7 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None FAM120C|0.175300288|39.59%

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 dxc01 snp X rs1113265
dbSNP Clinvar
79698593 780.77 C G PASS 1/1 30 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%

FAM47A

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 dxc01 snp X rs1811716
dbSNP Clinvar
34149267 1510.77 C A PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.24927 0.24930 0.24474 0.23 0.00 None None None None None None FAM47A|0.000991143|95.49%

FANCB

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 dxc01 snp X rs41309679
dbSNP Clinvar
14877404 390.77 C T PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.03656 0.03656 0.05900 0.00 1.00 None None None None None None FANCB|0.07080547|57.28%

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 dxc01 snp X rs34825181
dbSNP Clinvar
138067202 487.77 A G PASS 1/1 17 None None None 0.68291 0.68290 0.26079 None None None None None None FGF13|0.912569109|3.18%

FMR1NB

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 dxc01 snp X rs764631
dbSNP Clinvar
147088249 694.77 C T PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.42305 0.42300 0.36562 1.00 0.00 None None None None None None FMR1NB|0.000454015|98.67%

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 dxc01 snp X rs2375465
dbSNP Clinvar
55651001 975.77 T C PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.81166 0.81170 0.19862 1.00 0.00 None None None None None None FOXR2|0.00232069|90.12%

FTHL17

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 dxc01 snp X rs438870
dbSNP Clinvar
31089930 571.77 C T PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.26914 0.26910 0.24931 None None None None None None FTHL17|0.000637657|97.63%

GABRQ

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 dxc01 snp X rs3810651
dbSNP Clinvar
151821277 1544.77 T A PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.43550 0.43550 1.00 0.00 None None None None None None GABRQ|0.013640362|78.1%

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 dxc01 snp X rs2296542
dbSNP Clinvar
69652762 411.77 A G PASS 1/1 16 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.85192 0.85190 0.17012 None None None None None None GDPD2|0.107206407|49.75%
View dxc01 snp X rs45513993
dbSNP Clinvar
69645230 791.77 C T PASS 1/1 31 SYNONYMOUS_CODING LOW None 0.02358 0.02358 0.05898 None None None None None None GDPD2|0.107206407|49.75%
View dxc01 snp X rs5980939
dbSNP Clinvar
69647169 711.77 T C PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.06543 0.06543 0.10092 None None None None None None GDPD2|0.107206407|49.75%

GLRA4

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 dxc01 snp X rs4907817
dbSNP Clinvar
102979486 418.77 T C PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.98676 0.98680 0.03499 0.40 0.00 None None None None None None GLRA4|0.424767211|19.36%

GPC4

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 dxc01 snp X rs1048369
dbSNP Clinvar
132437337 1154.77 G A PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.45828 0.45830 0.40481 0.07 0.99 None None None None None None GPC4|0.466713815|17.33%
View dxc01 snp X rs1129980
dbSNP Clinvar
132438872 305.77 C A PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.45881 0.45880 0.40472 0.33 0.97 None None None None None None GPC4|0.466713815|17.33%

GPR101

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 dxc01 snp X rs5931046
dbSNP Clinvar
136112707 813.77 A G PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.21431 0.21430 0.17164 0.01 0.83 None None None None None None GPR101|0.033229357|68.06%

GPR112

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 dxc01 snp X rs5930942
dbSNP Clinvar
135496398 340.77 G A PASS 1/1 14 SYNONYMOUS_CODING LOW None 0.76662 0.76660 0.33390 None None None None None None ADGRG4|0.00835627|82.29%
View dxc01 snp X rs5974595
dbSNP Clinvar
135480126 814.77 T C PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.76795 0.76790 0.33012 None None None None None None ADGRG4|0.00835627|82.29%
View dxc01 snp X rs1329546
dbSNP Clinvar
135474420 320.77 C A PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.73722 0.73720 0.36476 None None None None None None ADGRG4|0.00835627|82.29%
View dxc01 snp X rs5930933
dbSNP Clinvar
135431358 1562.77 C T PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.47338 0.47340 0.49446 None None None None None None ADGRG4|0.00835627|82.29%
View dxc01 snp X rs912002
dbSNP Clinvar
135430483 726.77 T C PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.46729 0.46730 0.49512 0.04 0.92 None None None None None None ADGRG4|0.00835627|82.29%
View dxc01 snp X rs877761
dbSNP Clinvar
135430044 1034.77 T C PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.53351 0.53350 0.42166 None None None None None None ADGRG4|0.00835627|82.29%
View dxc01 snp X rs5930931
dbSNP Clinvar
135426968 646.77 C A PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.45033 0.45030 0.49995 0.00 0.09 None None None None None None ADGRG4|0.00835627|82.29%
View dxc01 snp X rs5930932
dbSNP Clinvar
135431236 1297.77 T C PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.48583 0.48580 0.48054 1.00 0.00 None None None None None None ADGRG4|0.00835627|82.29%
View dxc01 snp X rs4829830
dbSNP Clinvar
135429503 1266.77 C A PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.46623 0.46620 0.49427 0.07 0.00 None None None None None None ADGRG4|0.00835627|82.29%
View dxc01 snp X rs4829829
dbSNP Clinvar
135426693 546.77 A G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.45086 0.45090 0.49920 0.05 0.01 None None None None None None ADGRG4|0.00835627|82.29%

GPR50

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 dxc01 snp X rs561077
dbSNP Clinvar
150349649 693.77 A G PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.42914 0.42910 0.44625 0.56 0.00 None None None None None None GPR50|0.00878576|81.88%

GPR82

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 dxc01 snp X rs1023065
dbSNP Clinvar
41587218 379.77 T C PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.86517 0.86520 0.19377 None None None None None None CASK|0.916357249|3.08%,GPR82|0.0788962|55.45%

GRIPAP1

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 dxc01 snp X rs11545861
dbSNP Clinvar
48847497 750.77 T C PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.25351 0.25350 0.31044 None None None None None None GRIPAP1|0.120003086|47.43%

GRPR

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 dxc01 snp X rs4986946
dbSNP Clinvar
16168677 969.77 T C PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.38967 0.38970 0.46209 None None None None None None GRPR|0.391292698|21.32%