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

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

AMELX, ARR3, ARSE, ATP11C, ATP2B3, ATP7A, AVPR2, BCOR, BGN, BRWD3, CHM, COL4A6, DKC1, DMD, EBP, FMR1, GPR101, GRIA3, HCFC1, HUWE1, IDS, IGSF1, IQSEC2, KAL1, KDM6A, KIF4A, LAMP2, MAMLD1, MAOA, MED12, NHS, NSDHL, PCDH19, PLP1, RBMX, RLIM, RPL10, XG,
AMELX Amelogenesis imperfecta, type 1E, 301200 (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)
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)
CHM Choroideremia, 303100 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
DKC1 Dyskeratosis congenita, X-linked, 305000 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
EBP Chondrodysplasia punctata, X-linked dominant, 302960 (3)
MEND syndrome, 300960 (3)
FMR1 Fragile X syndrome, 300624 (3)
Fragile X tremor/ataxia syndrome, 300623 (3)
Premature ovarian failure 1, 311360 (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)
IDS Mucopolysaccharidosis II, 309900 (3)
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888 (3)
IQSEC2 Mental retardation, X-linked 1/78, 309530 (3)
KAL1 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)
KDM6A Kabuki syndrome 2, 300867 (3)
KIF4A ?Mental retardation, X-linked 100, 300923 (3)
LAMP2 Danon disease, 300257 (3)
MAMLD1 Hypospadias 2, X-linked, 300758 (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)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (3)
PCDH19 Epileptic encephalopathy, early infantile, 9, 300088 (3)
PLP1 Pelizaeus-Merzbacher disease, 312080 (3)
Spastic paraplegia 2, X-linked, 312920 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RLIM Tonne-Kalscheuer syndrome, 300978 (3)
RPL10 Mental retardation, X-linked, syndromic, 35, 300998 (3)
{Autism, susceptibility to, X-linked 5}, 300847 (3)
XG [Blood group, XG system] (3)

Genes at Clinical Genomics Database

AMELX, ARSE, ATP2B3, ATP7A, AVPR2, BCOR, BRWD3, CHM, COL4A6, DKC1, DMD, EBP, FMR1, GPR101, GRIA3, HCFC1, HUWE1, IDS, IGSF1, IQSEC2, KDM6A, KIF4A, LAMP2, MAMLD1, MAOA, MED12, NHS, NSDHL, PCDH19, PLP1, RBMX, XG,
AMELX Amelogenesis imperfecta, type 1E
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
CHM Choiroideremia
COL4A6 Deafness, X-linked, with cochlear malformation
DKC1 Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
DMD Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
EBP Chondrodysplasia punctata 2, X-linked dominant
Male EBP disorder with neurologic defects (MEND)
FMR1 Premature ovarian failure
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
IDS Mucopolysaccharidosis type II
IGSF1 Central hypothyroidism and testicular enlargement
IQSEC2 Mental retardation, X-linked 1
KDM6A Kabuki syndrome 2
KIF4A Mental retardation, X-linked 100
LAMP2 Danon disease
MAMLD1 Hypospadias 2, X-linked
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
NSDHL Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
PCDH19 Epileptic encephalopathy, early infantile, 9
PLP1 Spastic paraplegia-2
Pelizaeus-Merzbacher disease
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
XG XG blood group

Genes at HGMD

Summary

Number of Variants: 509
Number of Genes: 163

Export to: CSV

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 030_tsvc_variants X rs28661622
dbSNP Clinvar
1719897 1318.65 C G PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.53355 0.53350 0.48013 0.48 0.06 None None None None None None AKAP17A|0.002882858|88.87%
View 030_tsvc_variants X rs6644621
dbSNP Clinvar
1713021 865.196 C T PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.55931 0.55930 0.45884 None None None None None None AKAP17A|0.002882858|88.87%

AMELX

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs2106416
dbSNP Clinvar
11316742 349.871 C T PASS 0/1 52 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%

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 030_tsvc_variants X rs2070097
dbSNP Clinvar
153176254 279.431 A G PASS 1/1 29 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 030_tsvc_variants X rs3934462
dbSNP Clinvar
100243459 279.43 G T PASS 1/1 29 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 030_tsvc_variants X rs41307262
dbSNP Clinvar
100242536 717.499 C T PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.12636 0.12640 0.14739 0.13 0.00 None None None None None None ARL13A|0.006011211|84.59%
View 030_tsvc_variants X rs6523438
dbSNP Clinvar
100245606 231.766 A G PASS 1/1 25 None None None 0.85642 0.85640 0.16250 None None None None None None ARL13A|0.006011211|84.59%

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 030_tsvc_variants X rs3205455
dbSNP Clinvar
100880857 393.085 G A PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.09801 0.09801 0.09603 None None None None None None ARMCX3|0.153071588|42.52%

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 030_tsvc_variants X rs3818862
dbSNP Clinvar
69489530 107.813 C T PASS 1/1 12 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 030_tsvc_variants X rs143238998
dbSNP Clinvar
2835989 609.283 A C PASS 0/1 216 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 030_tsvc_variants X rs755296450
dbSNP Clinvar
2835993 611.686 G A PASS 0/1 212 SYNONYMOUS_CODING LOW None 0.00371 0.00371 None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs73632974
dbSNP Clinvar
2836138 310.186 G A PASS 0/1 133 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs73632975
dbSNP Clinvar
2836181 573.326 A T PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.11 None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs150899882
dbSNP Clinvar
2835995 456.862 C A PASS 0/1 212 NON_SYNONYMOUS_CODING MODERATE None 0.90 0.00 None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs73632976
dbSNP Clinvar
2836184 578.26 C T PASS 0/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.85 None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs73632977
dbSNP Clinvar
2836211 531.941 A T PASS 0/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.90 None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs113556864
dbSNP Clinvar
2835998 69.674 CC... C,... PASS 0/1 174 NON_SYNONYMOUS_CODING MODERATE None 0.18295 None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs73632978
dbSNP Clinvar
2836238 567.7 G A PASS 0/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.05 None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs67272620
dbSNP Clinvar
2836041 340.101 A T PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs67359049
dbSNP Clinvar
2836047 337.462 C T PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.77 None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs113318393
dbSNP Clinvar
2836060 361.435 G A PASS 0/1 154 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs78034736
dbSNP Clinvar
2835863 650.177 G T PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs748243474
dbSNP Clinvar
2835985 581.614 G A PASS 0/1 216 SYNONYMOUS_CODING LOW None 0.00371 0.00371 None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs73632972
dbSNP Clinvar
2835964 769.948 G A PASS 0/1 216 SYNONYMOUS_CODING LOW None None None None None None None ARSD|0.001611053|92.29%
View 030_tsvc_variants X rs73632973
dbSNP Clinvar
2836084 404.901 C G PASS 0/1 155 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 030_tsvc_variants X rs35143646
dbSNP Clinvar
2856155 459.522 C T PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.57457 0.57460 0.49223 0.18 0.49 None None None None None None ARSE|0.002669381|89.33%
View 030_tsvc_variants X rs11222
dbSNP Clinvar
2852951 327.651 G A PASS 1/1 35 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 030_tsvc_variants X rs5983003
dbSNP Clinvar
3002687 195.706 A G PASS 1/1 20 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 030_tsvc_variants X rs5939407
dbSNP Clinvar
2942109 686.512 T C PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.74702 0.74700 0.36846 None None None None None None ARSH|0.004353843|86.54%

ASMT

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 030_tsvc_variants X rs4933063
dbSNP Clinvar
1755404 386.063 C T PASS 0/1 162 SYNONYMOUS_CODING LOW None 0.13299 0.13300 0.09617 None None None None None None ASMT|0.002201059|90.42%

ASMTL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs182237458
dbSNP Clinvar
1557993 77.8491 G C PASS 0/1 56 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00859 0.00859 0.00749 0.00 1.00 None None None None None None ASMTL|0.001996891|91.03%
View 030_tsvc_variants X rs5949099
dbSNP Clinvar
1546792 923.731 G A PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.69669 0.69670 0.36851 None None None None None None ASMTL|0.001996891|91.03%
View 030_tsvc_variants X rs5948863
dbSNP Clinvar
1546876 673.046 A G PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.71366 0.71370 0.35645 None None None None None None ASMTL|0.001996891|91.03%
View 030_tsvc_variants X rs3183025
dbSNP Clinvar
1554649 139.469 T C PASS 0/1 109 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.38478 0.38480 0.37514 None None None None None None ASMTL|0.001996891|91.03%
View 030_tsvc_variants X rs6644873
dbSNP Clinvar
1537002 459.531 C G PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.66933 0.66930 0.39586 None None None None None None ASMTL|0.001996891|91.03%

ATP11C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs2491014
dbSNP Clinvar
138897130 279.428 A C PASS 1/1 29 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 030_tsvc_variants X rs3020949
dbSNP Clinvar
152815089 471.426 A G PASS 1/1 46 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 030_tsvc_variants X rs4826245
dbSNP Clinvar
77298857 459.537 G A PASS 1/1 48 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 030_tsvc_variants X rs5201
dbSNP Clinvar
153171993 1108.84 A G PASS 1/1 116 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 030_tsvc_variants X rs5917933
dbSNP Clinvar
39933339 865.143 A G PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.90305 0.90300 0.10425 None None None None None None BCOR|0.481414102|16.71%
View 030_tsvc_variants X rs144606152
dbSNP Clinvar
39932808 300.371 G A PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.01669 0.01669 0.03731 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 030_tsvc_variants X rs4830173
dbSNP Clinvar
129147079 542.76 T C PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None BCORL1|0.202266088|36.48%

BEX2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs7557
dbSNP Clinvar
102564583 339.21 A G PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.83285 0.83280 0.30247 None None None None None None BEX2|0.018970374|74.68%

BGN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs4833
dbSNP Clinvar
152770230 388.32 G A PASS 1/1 40 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 030_tsvc_variants X rs3122407
dbSNP Clinvar
79943569 580.224 T C PASS 1/1 59 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 030_tsvc_variants X rs2428577
dbSNP Clinvar
133379551 308.266 C T PASS 1/1 32 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CCDC160|0.006302974|84.27%

CD99

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs11556084
dbSNP Clinvar
2656258 232.347 G A PASS 0/1 88 None None None 0.01977 0.01977 0.04331 1.00 0.00 None None None None None None CD99|0.003192915|88.33%
View 030_tsvc_variants X rs1136447
dbSNP Clinvar
2632482 196.076 C T PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.31390 0.31390 0.36821 None None None None None None CD99|0.003192915|88.33%

CENPI

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 030_tsvc_variants X rs2273380
dbSNP Clinvar
100395663 712.13 G T PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.32795 0.32790 0.30702 None None None None None None CENPI|0.118322957|47.69%
View 030_tsvc_variants X rs187409283
dbSNP Clinvar
100357291 519.798 T C PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.00000 0.00000 0.00010 None None None None None None CENPI|0.118322957|47.69%

CHM

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs10217950
dbSNP Clinvar
85219021 423.67 T C PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.12000 0.12000 0.16937 None None None None None None CHM|0.332696206|25.28%

CITED1

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 030_tsvc_variants X rs3012627
dbSNP Clinvar
71521867 627.703 G C PASS 1/1 66 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs35350051
dbSNP Clinvar
150909307 481.136 G T PASS 1/1 51 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs4623610
dbSNP Clinvar
107418906 173.787 A G PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.98384 0.98380 0.01695 None None None None None None COL4A6|0.130757642|45.78%
View 030_tsvc_variants X rs1266719
dbSNP Clinvar
107437848 180.762 G C PASS 1/1 22 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 030_tsvc_variants X rs1042065
dbSNP Clinvar
107433688 296.788 A G PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.57325 0.57320 0.25741 1.00 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs5940915
dbSNP Clinvar
88008423 195.705 A C PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.91364 0.91360 0.09442 1.00 0.00 None None None None None None CPXCR1|0.001467264|92.95%
View 030_tsvc_variants X rs5984611
dbSNP Clinvar
88008807 711.48 G A PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.23046 0.23050 0.32926 0.63 0.50 None None None None None None CPXCR1|0.001467264|92.95%

CT45A5

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs2034920
dbSNP Clinvar
134948034 625.712 A G PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.83470 0.83470 0.22066 None None None None None None CT45A4|0.000504008|98.41%,CT45A5|0.000543107|98.22%

CXorf21

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs887369
dbSNP Clinvar
30577846 555.779 A C PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.89722 0.89720 0.19572 None None None None None None CXorf21|0.11528982|48.25%

CXorf36

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 030_tsvc_variants X rs1132201
dbSNP Clinvar
45051111 560.554 C T PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.43947 0.43950 0.28013 0.61 0.01 None None None None None None CXorf36|0.073887248|56.54%

CXorf58

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 030_tsvc_variants X rs2707164
dbSNP Clinvar
23928489 593.85 C T PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.37007 0.37010 0.46161 0.19 0.55 None None None None None None CXorf58|0.013383355|78.26%

CXorf65

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 030_tsvc_variants X rs1130009
dbSNP Clinvar
70324157 519.793 C T PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.11179 0.11180 0.22683 None None None None None None CXorf65|0.013213084|78.35%

CYSLTR1

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 030_tsvc_variants X rs320995
dbSNP Clinvar
77528317 291.57 G A PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.66305 0.66300 0.25994 None None None None None None CYSLTR1|0.093771876|52.42%

DHRSX

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs1127915
dbSNP Clinvar
2161129 405.073 C G PASS 0/1 210 NON_SYNONYMOUS_CODING MODERATE None 0.56590 0.56590 0.23904 1.00 0.00 None None None None None None DHRSX|0.002517111|89.65%
View 030_tsvc_variants X rs12010
dbSNP Clinvar
2139186 252.685 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.47145 0.47140 0.27597 0.17 0.16 None None None None None None DHRSX|0.002517111|89.65%
View 030_tsvc_variants X rs3210910
dbSNP Clinvar
2139200 531.506 T C PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.91534 0.91530 0.81 0.00 None None None None None None DHRSX|0.002517111|89.65%

DKC1

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs2728532
dbSNP Clinvar
153994596 363.266 G T PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.99258 0.99260 0.00814 None None None None None None DKC1|0.779908958|6.32%

DMD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs1800275
dbSNP Clinvar
31893307 201.649 T G PASS 1/1 22 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18331 0.18330 0.20464 0.51 0.08 None None None None None None DMD|0.999751041|0.27%
View 030_tsvc_variants X rs1801187
dbSNP Clinvar
32380996 584.234 C T PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.46517 0.46520 0.33311 0.07 0.74 None None None None None None DMD|0.999751041|0.27%
View 030_tsvc_variants X rs1800280
dbSNP Clinvar
31496350 604.107 C T PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.88185 0.88190 0.04318 1.00 0.00 None None None None None None DMD|0.999751041|0.27%

DNASE1L1

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 030_tsvc_variants X rs1130929
dbSNP Clinvar
153633359 392.326 G C PASS 1/1 48 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%

EBP

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 030_tsvc_variants X rs3048
dbSNP Clinvar
48382174 506.681 G T PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.00053 0.00053 0.29272 None None None None None None EBP|0.065187638|58.58%

EDA2R

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 030_tsvc_variants X rs1385699
dbSNP Clinvar
65824986 543.524 C T PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.66543 0.66540 0.44012 0.84 0.00 None None None None None None EDA2R|0.057303601|60.61%
View 030_tsvc_variants X rs1385698
dbSNP Clinvar
65822607 403.383 T C PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.92901 0.92900 0.08077 0.38 0.00 None None None None None None EDA2R|0.057303601|60.61%

FAAH2

Omim - GeneCards - NCBI
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RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs2516023
dbSNP Clinvar
57313357 487.284 T C PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.52980 0.52980 0.48973 None None None None None None FAAH2|0.005909057|84.68%
View 030_tsvc_variants X rs146874627
dbSNP Clinvar
57313382 499.421 C T PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.00212 0.00212 0.00776 0.02 0.11 None None None None None None FAAH2|0.005909057|84.68%
View 030_tsvc_variants X rs4826543
dbSNP Clinvar
57405163 327.651 T C PASS 1/1 35 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
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs1047054
dbSNP Clinvar
55172537 2699.32 G A PASS 0/1 449 None None None None None None None None None FAM104B|0.001440975|93.08%

FAM120C

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 030_tsvc_variants X rs2495783
dbSNP Clinvar
54209387 231.771 A G PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None FAM120C|0.175300288|39.59%

FAM122C

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 030_tsvc_variants X rs45447592
dbSNP Clinvar
133963268 296.799 C T PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.01934 0.01934 0.04251 1.00 0.00 None None None None None None FAM122C|0.005486263|85.22%

FAM127B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs2498776
dbSNP Clinvar
134185997 147.376 T A PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.00026 0.72080 0.20301 0.01 0.05 None None None None None None FAM127B|0.010606007|80.43%

FAM46D

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 030_tsvc_variants X rs1113265
dbSNP Clinvar
79698593 318.754 C G PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.37245 0.37250 0.40570 1.00 0.00 None None None None None None FAM46D|0.04862911|63.07%

FAM47B

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 030_tsvc_variants X rs41305183
dbSNP Clinvar
34961306 614.365 G C PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.02252 0.02252 0.06032 0.25 0.01 None None None None None None FAM47B|0.000999136|95.44%

FMR1

Omim - GeneCards - NCBI
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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 030_tsvc_variants X rs25707
dbSNP Clinvar
147010320 292.03 G A PASS 1/1 30 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X rs2375465
dbSNP Clinvar
55651001 604.614 T C PASS 1/1 64 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%

GABRE

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 030_tsvc_variants X rs1139916
dbSNP Clinvar
151138179 267.064 A C PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.70649 0.70650 0.38995 0.15 0.42 None None None None None None GABRE|0.027020862|70.86%

GDPD2

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 030_tsvc_variants X rs2296542
dbSNP Clinvar
69652762 675.279 A G PASS 1/1 70 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.85192 0.85190 0.17012 None None None None None None GDPD2|0.107206407|49.75%

GLRA4

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 030_tsvc_variants X rs5945807
dbSNP Clinvar
102978806 913.952 G C PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.15947 0.15950 0.27111 None None None None None None GLRA4|0.424767211|19.36%
View 030_tsvc_variants X rs4907817
dbSNP Clinvar
102979486 195.118 T C PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.98676 0.98680 0.03499 0.40 0.02 None None None None None None GLRA4|0.424767211|19.36%

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 030_tsvc_variants X rs1190736
dbSNP Clinvar
136113464 953.282 C A PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.23205 0.23210 0.35227 0.06 0.67 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 030_tsvc_variants X rs5930942
dbSNP Clinvar
135496398 940.772 G A PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.76662 0.76660 0.33390 None None None None None None ADGRG4|0.00835627|82.29%
View 030_tsvc_variants X rs34255702,rs563570937
dbSNP Clinvar
135474444 554.764 AGAT A PASS 1/1 62 CODON_DELETION MODERATE None 0.73722 0.73720 0.36492 None None None None None None ADGRG4|0.00835627|82.29%
View 030_tsvc_variants X rs1329546
dbSNP Clinvar
135474420 584.236 C A PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.73722 0.73720 0.36476 None None None None None None ADGRG4|0.00835627|82.29%
View 030_tsvc_variants X rs5974595
dbSNP Clinvar
135480126 486.365 T C PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.76795 0.76790 0.33012 None None None None None None ADGRG4|0.00835627|82.29%

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 030_tsvc_variants X rs1023065
dbSNP Clinvar
41587218 220.866 T C PASS 1/1 24 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%

GRIA3

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 030_tsvc_variants X rs502434
dbSNP Clinvar
122537277 522.743 T C PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.52901 0.52900 0.45451 None None None None None None GRIA3|0.935818586|2.64%

GTPBP6

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 030_tsvc_variants X rs1140798
dbSNP Clinvar
229542 49.5321 G A PASS 1/1 6 SYNONYMOUS_CODING LOW None 0.49022 0.49020 0.41113 None None None None None None None

GUCY2F

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 030_tsvc_variants X rs12008095
dbSNP Clinvar
108708552 772.797 A G PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.16185 0.16190 0.25968 0.00 0.84 None None None None None None GUCY2F|0.157201193|42.01%
View 030_tsvc_variants X rs502209
dbSNP Clinvar
108708516 437.08 C T PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.94861 0.94860 0.11607 0.62 0.00 None None None None None None GUCY2F|0.157201193|42.01%