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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

AK2, ALK, CEP164, CES1, CFHR1, COA7, COL11A1, DNMT3B, HERC2, HEXA, HLA-B, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1, HYDIN, MACF1, MECOM, MUC5B, NNT, PDE10A, PHC1, PNPLA2, RP1L1, SRGAP1, STT3B, SYNGAP1,
AK2 Reticular dysgenesis, 267500 (3)
ALK {Neuroblastoma, susceptibility to, 3}, 613014 (3)
CEP164 Nephronophthisis 15, 614845 (3)
CES1 Drug metabolism, altered, CES1-related, 618057 (3)
CFHR1 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
{Macular degeneration, age-related, reduced risk of}, 603075 (3)
COA7 ?Mitochondrial complex IV deficiency, 220110 (3)
COL11A1 {Lumbar disc herniation, susceptibility to}, 603932 (3)
Fibrochondrogenesis 1, 228520 (3)
Marshall syndrome, 154780 (3)
Stickler syndrome, type II, 604841 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HEXA GM2-gangliosidosis, several forms, 272800 (3)
Tay-Sachs disease, 272800 (3)
[Hex A pseudodeficiency], 272800 (3)
HLA-B {Drug-induced liver injury due to flucloxacillin} (3)
{Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HLA-DQA1 {Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1 {Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
MACF1 Lissencephaly 9 with complex brainstem malformation, 618325 (3)
MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
PDE10A Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
PHC1 ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
SRGAP1 {Thyroid cancer, nonmedullary, 2}, 188470 (3)
STT3B ?Congenital disorder of glycosylation, type Ix, 615597 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)

Genes at Clinical Genomics Database

AK2, ALK, CEP164, CES1, CFHR1, COL11A1, DNMT3B, HERC2, HEXA, HLA-B, MECOM, NNT, PDE10A, PHC1, PNPLA2, RP1L1, STT3B, SYNGAP1,
AK2 Reticular dysgenesis
ALK Neuroblastoma, susceptibility to, 3
CEP164 Nephronophthisis 15
CES1 Carboxylesterase 1 deficiency
CFHR1 Hemolytic-uremic syndrome, atypical, susceptibility to
COL11A1 Stickler syndrome, type II
Fibrochondrogenesis
Marshall syndrome
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
HEXA Tay-Sachs disease
GM2-gangliosidosis
Hexosaminidase A deficiency
HLA-B Drug-induced toxicity, susceptibility to
MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
NNT Glucocorticoid deficiency 4
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PHC1 Primary microcephaly 11
PNPLA2 Neutral lipid storage disease with myopathy
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
STT3B Congenital disorder of glycosylation, type Ix
SYNGAP1 Mental retardation, autosomal dominant 5

Genes at HGMD

Summary

Number of Variants: 654
Number of Genes: 145

Export to: CSV

ACVR2A

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 gird-c1a filtered variants 2 rs371059184
dbSNP Clinvar
148676144 136.77 A C MG_SNP_Filter 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ACVR2A|0.954874219|2.08%

ADAM21

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 gird-c1a filtered variants 14 rs58247196
dbSNP Clinvar
70924450 155.77 C T MG_SNP_Filter 0/1 126 SYNONYMOUS_CODING LOW None None None None None None None ADAM21|0.009866102|80.97%
View gird-c1a filtered variants 14 rs12436346
dbSNP Clinvar
70925257 349.77 A G MG_SNP_Filter 1/1 10 SYNONYMOUS_CODING LOW None 0.02736 None None None None None None ADAM21|0.009866102|80.97%

ADAMTSL1

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 gird-c1a filtered variants 9 rs762296207
dbSNP Clinvar
18775831 30.77 A C MG_SNP_Filter 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.17 None None None None None None ADAMTSL1|0.674544897|9.24%

ADM

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 gird-c1a filtered variants 11 rs746037060
dbSNP Clinvar
10327871 208.77 G C MG_SNP_Filter 0/1 105 None None None 0.06 0.97 None None None None None None ADM|0.361967617|23.3%

AK2

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 gird-c1a filtered variants 1 rs111261425
dbSNP Clinvar
33478920 204.77 G A MG_SNP_Filter 0/1 143 SYNONYMOUS_CODING LOW None None None None None None None AK2|0.52008847|15.01%
View gird-c1a filtered variants 1 rs79403800
dbSNP Clinvar
33478983 54.77 G A MG_SNP_Filter 0/1 50 SYNONYMOUS_CODING LOW None None None None None None None AK2|0.52008847|15.01%
View gird-c1a filtered variants 1 rs113711467
dbSNP Clinvar
33478900 123.77 T A MG_SNP_Filter 0/1 180 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.96 None None None None None None AK2|0.52008847|15.01%

ALK

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 gird-c1a filtered variants 2 rs200992945
dbSNP Clinvar
29448410 329.77 T G MG_SNP_Filter 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.22 0.33 None None None None None None ALK|0.859785808|4.47%

ALPP

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 gird-c1a filtered variants 2 rs1048989
dbSNP Clinvar
233244937 60.77 A G MG_SNP_Filter 0/1 56 SYNONYMOUS_CODING LOW None None None None None None None ALPP|0.999370882|0.37%
View gird-c1a filtered variants 2 rs1048988
dbSNP Clinvar
233244930 36.77 G C MG_SNP_Filter 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.14058 0.14060 0.18985 1.00 0.00 None None None None None None ALPP|0.999370882|0.37%

ALPPL2

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 gird-c1a filtered variants 2 rs2090543
dbSNP Clinvar
233274145 917.77 G C MG_SNP_Filter 1/1 25 SYNONYMOUS_CODING LOW None 0.76897 0.76900 None None None None None None ALPPL2|0.999048499|0.4%

ANKRD22

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 gird-c1a filtered variants 10 rs761751044
dbSNP Clinvar
90591731 55.77 A C MG_SNP_Filter 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.37 None None None None None None ANKRD22|0.085075807|54.17%

ANO1

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 gird-c1a filtered variants 11 rs775543205
dbSNP Clinvar
70002087 36.77 T G MG_SNP_Filter 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.41 0.98 None None None None None None ANO1|0.129436977|45.95%

B3GNT1

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 gird-c1a filtered variants 11 rs75171367
dbSNP Clinvar
66113687 54.77 A C MG_SNP_Filter 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.72 None None None None None None B4GAT1|0.220675559|34.35%

BCLAF1

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 gird-c1a filtered variants 6 rs7381749
dbSNP Clinvar
136594292 280.77 T C MG_SNP_Filter 0/1 199 NON_SYNONYMOUS_CODING MODERATE None 0.35 0.49 None None None None None None BCLAF1|0.862204176|4.44%
View gird-c1a filtered variants 6 rs62431285
dbSNP Clinvar
136590613 196.77 T C MG_SNP_Filter 0/1 117 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%

C19orf10

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 gird-c1a filtered variants 19 rs12683
dbSNP Clinvar
4658047 54.77 A G MG_SNP_Filter 0/1 31 None None None 0.16574 0.16570 0.14255 None None None None None None MYDGF|0.015950442|76.5%

C1QTNF9B

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 gird-c1a filtered variants 13 rs66990269
dbSNP Clinvar
24471039 1069.77 T G MG_SNP_Filter 0/1 67 SYNONYMOUS_CODING LOW None None None None None None None C1QTNF9B|0.013563559|78.16%
View gird-c1a filtered variants 13 rs35159134
dbSNP Clinvar
24471048 1211.77 C T MG_SNP_Filter 0/1 77 SYNONYMOUS_CODING LOW None 0.21046 0.21050 None None None None None None C1QTNF9B|0.013563559|78.16%

C5orf60

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 gird-c1a filtered variants 5 rs4990388
dbSNP Clinvar
179071893 308.77 A G MG_SNP_Filter 0/1 215 SYNONYMOUS_CODING LOW None 0.01657 0.01657 None None None None None None C5orf60|0.001143747|94.74%
View gird-c1a filtered variants 5 rs4990389
dbSNP Clinvar
179071892 308.77 C T MG_SNP_Filter 0/1 217 NON_SYNONYMOUS_CODING MODERATE None 0.01657 0.01657 0.88 0.00 None None None None None None C5orf60|0.001143747|94.74%

C7orf34

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 gird-c1a filtered variants 7 rs74467630
dbSNP Clinvar
142637502 79.77 T G MG_SNP_Filter 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.03 None None None None None None C7orf34|0.003312754|88.06%

CCNT1

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 gird-c1a filtered variants 12 rs756261087
dbSNP Clinvar
49087593 188.77 A C MG_SNP_Filter 0/1 88 SYNONYMOUS_CODING LOW None None None None None None None CCNT1|0.315648656|26.38%

CCZ1B

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 gird-c1a filtered variants 7 rs145992513
dbSNP Clinvar
6859453 350.77 C G MG_SNP_Filter 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.22205 0.22200 0.01 0.96 None None None None None None CCZ1B|0.018364277|75.04%

CDC27

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 gird-c1a filtered variants 17 rs78493795
dbSNP Clinvar
45234420 58.77 T G MG_SNP_Filter 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.39 0.01 None None None None None None CDC27|0.658499283|9.78%
View gird-c1a filtered variants 17 rs193061947
dbSNP Clinvar
45234417 61.77 A G MG_SNP_Filter 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.27 0.03 None None None None None None CDC27|0.658499283|9.78%

CDS2

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 gird-c1a filtered variants 20 rs138251157
dbSNP Clinvar
5154237 51.77 A C MG_SNP_Filter 0/1 57 SYNONYMOUS_CODING LOW None None None None None None None CDS2|0.204079622|36.23%

CELA3B

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 gird-c1a filtered variants 1 rs7528228
dbSNP Clinvar
22307340 764.77 C T MG_SNP_Filter 1/1 22 SYNONYMOUS_CODING LOW None 0.84924 0.84920 None None None None None None CELA3B|0.015617411|76.71%

CEP164

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 gird-c1a filtered variants 11 rs756182128
dbSNP Clinvar
117280516 91.77 A C MG_SNP_Filter 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.27 0.33 None None None None None None CEP164|0.276473275|29.41%

CES1

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 gird-c1a filtered variants 16 rs3826194
dbSNP Clinvar
55862762 144.77 C G MG_SNP_Filter 0/1 170 SYNONYMOUS_CODING LOW None None None None None None None CES1|0.015845795|76.58%
View gird-c1a filtered variants 16 rs3826193
dbSNP Clinvar
55862791 248.77 T C MG_SNP_Filter 0/1 258 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None CES1|0.015845795|76.58%

CFHR1

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 gird-c1a filtered variants 1 rs410232
dbSNP Clinvar
196797244 421.77 C G MG_SNP_Filter 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.28893 0.80 0.00 None None None None None None CFHR1|0.001540136|92.58%,CFHR2|0.000734452|97.12%
View gird-c1a filtered variants 1 rs388862
dbSNP Clinvar
196797292 42.74 G C MG_SNP_Filter 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.49 0.00 None None None None None None CFHR1|0.001540136|92.58%,CFHR2|0.000734452|97.12%
View gird-c1a filtered variants 1 rs12406079
dbSNP Clinvar
196799691 337.77 G A MG_SNP_Filter 1/1 10 SYNONYMOUS_CODING LOW None 0.09525 0.09525 0.13004 None None None None None None CFHR1|0.001540136|92.58%,CFHR2|0.000734452|97.12%

COA7

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 gird-c1a filtered variants 1 rs200725979
dbSNP Clinvar
53158524 184.77 A C MG_SNP_Filter 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.61 0.01 None None None None None None COA7|0.236958201|32.71%

COL11A1

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 gird-c1a filtered variants 1 rs762587613
dbSNP Clinvar
103468336 42.77 A C MG_SNP_Filter 0/1 47 SYNONYMOUS_CODING LOW None None None None None None None COL11A1|0.697613912|8.57%

CROCC

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 gird-c1a filtered variants 1 rs12025984
dbSNP Clinvar
17270751 34.77 G A MG_SNP_Filter 0/1 28 SYNONYMOUS_CODING LOW None 0.23762 0.23760 None None None None None None CROCC|0.082326199|54.7%

CSNK2A3

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 gird-c1a filtered variants 11 rs7948121
dbSNP Clinvar
11373508 338.78 T C MG_SNP_Filter 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.95168 0.95170 1.00 0.00 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%

DCAF4L2

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 gird-c1a filtered variants 8 rs916639894
dbSNP Clinvar
88885133 384.77 T G MG_SNP_Filter 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.31 0.41 None None None None None None DCAF4L2|0.001422509|93.23%

DNAH8

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 gird-c1a filtered variants 6 rs200025053
dbSNP Clinvar
38917321 83.77 A C MG_SNP_Filter 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.95 None None None None None None DNAH8|0.998961058|0.42%

DNMT3B

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 gird-c1a filtered variants 20 rs765591135
dbSNP Clinvar
31384624 46.77 C A MG_SNP_Filter 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.03 None None None None None None DNMT3B|0.978021249|1.52%

DTX2

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 gird-c1a filtered variants 7 rs17855260
dbSNP Clinvar
76132898 122.03 T C MG_SNP_Filter 1/1 4 SYNONYMOUS_CODING LOW None 0.35683 0.35680 0.34880 None None None None None None DTX2|0.152388002|42.62%

FAM131C

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 gird-c1a filtered variants 1 rs17853748
dbSNP Clinvar
16385175 1554.77 G A MG_SNP_Filter 0/1 91 SYNONYMOUS_CODING LOW None None None None None None None FAM131C|0.04418274|64.46%

FBXW10

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 gird-c1a filtered variants 17 rs200535885
dbSNP Clinvar
18653145 98.77 C G MG_SNP_Filter 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.17 None None None None None None FBXW10|0.006929798|83.58%

GBP7

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 gird-c1a filtered variants 1 rs79037912
dbSNP Clinvar
89599084 37.77 G C MG_SNP_Filter 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.71 0.12 None None None None None None GBP2|0.003720692|87.39%,GBP7|0.002297689|90.18%

GXYLT1

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 gird-c1a filtered variants 12 rs79044728
dbSNP Clinvar
42499690 108.77 T C MG_SNP_Filter 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None GXYLT1|0.137586291|44.77%
View gird-c1a filtered variants 12 rs80202058
dbSNP Clinvar
42499763 71.77 T C MG_SNP_Filter 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.06 None None None None None None GXYLT1|0.137586291|44.77%

HAVCR1

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 gird-c1a filtered variants 5 rs202050012
dbSNP Clinvar
156482489 96.77 T G MG_SNP_Filter 0/1 80 SYNONYMOUS_CODING LOW None None None None None None None HAVCR1|0.00064813|97.55%

HCAR2

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 gird-c1a filtered variants 12 rs7314976
dbSNP Clinvar
123186900 181.77 G A MG_SNP_Filter 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.26 0.01 None None None None None None HCAR1|0.027013513|70.87%,HCAR2|0.01422675|77.71%

HERC2

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 gird-c1a filtered variants 15 rs766763181
dbSNP Clinvar
28518135 49.77 C T MG_SNP_Filter 0/1 47 SYNONYMOUS_CODING LOW None None None None None None None HERC2|0.10570597|50.1%
View gird-c1a filtered variants 15 rs201979656
dbSNP Clinvar
28518136 49.77 G A MG_SNP_Filter 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.13 None None None None None None HERC2|0.10570597|50.1%

HEXA

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 gird-c1a filtered variants 15 rs200513831
dbSNP Clinvar
72645440 109.77 T G MG_SNP_Filter 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None HEXA|0.174212573|39.76%

HLA-B

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 gird-c1a filtered variants 6 rs2074496,rs1130992
dbSNP Clinvar
31322996 437.77 C T MG_SNP_Filter 0/1 29 SYNONYMOUS_CODING LOW None 0.66254 0.66250 0.44076 None None None None None None HLA-B|0.04113834|65.4%

HLA-C

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 gird-c1a filtered variants 6 rs1131123
dbSNP Clinvar
31239378 80.77 T G MG_SNP_Filter 0/1 43 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.54812 0.54810 1.00 0.00 None None None None None None HLA-C|0.028815016|70%

HLA-DQA1

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 gird-c1a filtered variants 6 rs1048372
dbSNP Clinvar
32610436 1980.77 T C MG_SNP_Filter 1/1 54 SYNONYMOUS_CODING LOW None 0.59525 0.59520 0.42994 None None None None None None HLA-DQA1|0.015615991|76.72%

HLA-DQB1

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 gird-c1a filtered variants 6 rs12722115
dbSNP Clinvar
32632782 1096.77 G C MG_SNP_Filter 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.01600 0.03 0.00 None None None None None None HLA-DQB1|0.132406558|45.55%
View gird-c1a filtered variants 6 rs1140310
dbSNP Clinvar
32632783 1096.77 A C MG_SNP_Filter 1/1 23 SYNONYMOUS_CODING LOW None 0.27935 0.27940 0.00687 None None None None None None HLA-DQB1|0.132406558|45.55%
View gird-c1a filtered variants 6 rs1049133
dbSNP Clinvar
32629847 1131.77 A G MG_SNP_Filter 1/1 34 SYNONYMOUS_CODING LOW None 0.83127 0.83130 0.26119 None None None None None None HLA-DQB1|0.132406558|45.55%
View gird-c1a filtered variants 6 rs1130368
dbSNP Clinvar
32632818 253.78 T G MG_SNP_Filter 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.21346 0.21350 0.13348 0.33 0.00 None None None None None None HLA-DQB1|0.132406558|45.55%
View gird-c1a filtered variants 6 rs1049066
dbSNP Clinvar
32632781 1096.77 A C MG_SNP_Filter 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.01589 0.01 0.29 None None None None None None HLA-DQB1|0.132406558|45.55%

HLA-DRB1

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 gird-c1a filtered variants 6 rs707954
dbSNP Clinvar
32549501 79.28 A C MG_SNP_Filter 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.18074 1.00 0.00 None None None None None None HLA-DRB1|0.032266025|68.49%

HLA-DRB5

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 gird-c1a filtered variants 6 rs200042906
dbSNP Clinvar
32489855 96.28 T G MG_SNP_Filter 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.01 None None None None None None HLA-DRB5|0.020830666|73.74%
View gird-c1a filtered variants 6 rs142793258
dbSNP Clinvar
32489883 62.74 G C MG_SNP_Filter 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.63019 0.63020 0.71 0.00 None None None None None None HLA-DRB5|0.020830666|73.74%
View gird-c1a filtered variants 6 rs707956
dbSNP Clinvar
32489856 62.74 C A MG_SNP_Filter 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None HLA-DRB5|0.020830666|73.74%
View gird-c1a filtered variants 6 rs41546317
dbSNP Clinvar
32489876 62.74 T C MG_SNP_Filter 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.23762 0.23760 0.09504 0.06 0.00 None None None None None None HLA-DRB5|0.020830666|73.74%
View gird-c1a filtered variants 6 rs202185589
dbSNP Clinvar
32489881 62.74 G T MG_SNP_Filter 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.01927 0.52 0.01 None None None None None None HLA-DRB5|0.020830666|73.74%
View gird-c1a filtered variants 6 rs138849995
dbSNP Clinvar
32489877 62.74 C A MG_SNP_Filter 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None HLA-DRB5|0.020830666|73.74%
View gird-c1a filtered variants 6 rs77180119
dbSNP Clinvar
32487390 62.74 T G MG_SNP_Filter 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.70907 0.70910 0.34379 1.00 0.00 None None None None None None HLA-DRB5|0.020830666|73.74%
View gird-c1a filtered variants 6 rs1059580
dbSNP Clinvar
32489853 96.28 A C MG_SNP_Filter 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.33114 1.00 0.00 None None None None None None HLA-DRB5|0.020830666|73.74%
View gird-c1a filtered variants 6 rs114131132
dbSNP Clinvar
32487402 62.74 C A MG_SNP_Filter 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.30212 0.30210 0.66 0.01 None None None None None None HLA-DRB5|0.020830666|73.74%
View gird-c1a filtered variants 6 rs115198947
dbSNP Clinvar
32487398 62.74 C T MG_SNP_Filter 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.70907 0.70910 0.34959 1.00 0.00 None None None None None None HLA-DRB5|0.020830666|73.74%

HS3ST3A1

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 gird-c1a filtered variants 17 rs61741326,rs62057033
dbSNP Clinvar
13399616 221.77 A T MG_SNP_Filter 0/1 16 SYNONYMOUS_CODING LOW None 0.41753 0.41750 None None None None None None HS3ST3A1|0.149000914|43.13%

HYDIN

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 gird-c1a filtered variants 16 rs1798531
dbSNP Clinvar
70954915 963.77 G T MG_SNP_Filter 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.99900 0.99900 0.00627 0.00 None None None None None None HYDIN|0.080749251|55.02%

IGHV1-24

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 gird-c1a filtered variants 14 rs200146986
dbSNP Clinvar
106733254 270.77 G C MG_SNP_Filter 0/1 230 NON_SYNONYMOUS_CODING MODERATE None 0.27 0.02 None None None None None None None
View gird-c1a filtered variants 14 rs781892312
dbSNP Clinvar
106733261 215.77 G T MG_SNP_Filter 0/1 229 SYNONYMOUS_CODING LOW None None None None None None None None

IGHV1-3

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 gird-c1a filtered variants 14 rs201932522
dbSNP Clinvar
106471417 60.77 G A MG_SNP_Filter 0/1 139 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None None
View gird-c1a filtered variants 14 rs200773107
dbSNP Clinvar
106471410 63.77 T C MG_SNP_Filter 0/1 149 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 1.00 0.00 None None None None None None None
View gird-c1a filtered variants 14 rs199743220
dbSNP Clinvar
106471426 105.77 G T MG_SNP_Filter 0/1 129 SYNONYMOUS_CODING LOW None None None None None None None None

IGHV3-64

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 gird-c1a filtered variants 14 rs201264785
dbSNP Clinvar
107113785 37.77 C T MG_SNP_Filter 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.34 0.00 None None None None None None None

IGHV7-81

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 gird-c1a filtered variants 14 rs61741319
dbSNP Clinvar
107282872 54.77 T A MG_SNP_Filter 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.00359 0.00359 0.41 0.00 None None None None None None None
View gird-c1a filtered variants 14 rs758264243
dbSNP Clinvar
107283002 96.77 A G MG_SNP_Filter 0/1 74 SYNONYMOUS_CODING LOW None None None None None None None None
View gird-c1a filtered variants 14 rs201095197
dbSNP Clinvar
107282859 131.77 G A MG_SNP_Filter 0/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.30 0.00 None None None None None None None
View gird-c1a filtered variants 14 rs113134619
dbSNP Clinvar
107283008 54.77 A T MG_SNP_Filter 0/1 73 SYNONYMOUS_CODING LOW None None None None None None None None
View gird-c1a filtered variants 14 rs201336503
dbSNP Clinvar
107282852 86.77 T C MG_SNP_Filter 0/1 165 SYNONYMOUS_CODING LOW None None None None None None None None
View gird-c1a filtered variants 14 rs777539402
dbSNP Clinvar
107283003 96.77 C G MG_SNP_Filter 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None

IGLV5-37

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 gird-c1a filtered variants 22 rs199904014
dbSNP Clinvar
22782210 129.77 T A MG_SNP_Filter 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.08307 0.08307 0.26 0.01 None None None None None None None
View gird-c1a filtered variants 22 rs201948144
dbSNP Clinvar
22782191 69.77 C T MG_SNP_Filter 0/1 145 SYNONYMOUS_CODING LOW None None None None None None None None
View gird-c1a filtered variants 22 rs202098056
dbSNP Clinvar
22782235 192.77 G A MG_SNP_Filter 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.22 0.00 None None None None None None None
View gird-c1a filtered variants 22 rs201204859
dbSNP Clinvar
22782234 189.77 G C MG_SNP_Filter 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.01 None None None None None None None

IGLV5-45

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 gird-c1a filtered variants 22 rs201561764
dbSNP Clinvar
22730868 37.77 C T MG_SNP_Filter 0/1 64 SYNONYMOUS_CODING LOW None None None None None None None None
View gird-c1a filtered variants 22 rs753958931
dbSNP Clinvar
22730595 128.77 T A MG_SNP_Filter 0/1 219 SYNONYMOUS_CODING LOW None None None None None None None None
View gird-c1a filtered variants 22 rs79280084
dbSNP Clinvar
22730620 247.77 C T MG_SNP_Filter 0/1 215 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.32 None None None None None None None
View gird-c1a filtered variants 22 rs72490667
dbSNP Clinvar
22730739 138.77 G C MG_SNP_Filter 0/1 166 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None

IGLV5-48

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 gird-c1a filtered variants 22 rs539733792
dbSNP Clinvar
22707564 233.77 G C MG_SNP_Filter 0/1 179 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.33 0.00 None None None None None None None
View gird-c1a filtered variants 22 rs61739192
dbSNP Clinvar
22707527 154.77 C T MG_SNP_Filter 0/1 221 NON_SYNONYMOUS_CODING MODERATE None 0.13417 0.02 0.43 None None None None None None None

KCNJ12

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 gird-c1a filtered variants 17 rs4985866
dbSNP Clinvar
21319399 709.77 A G MG_SNP_Filter 0/1 537 NON_SYNONYMOUS_CODING MODERATE None 0.25211 0.53 0.00 None None None None None None KCNJ12|0.437556296|18.82%
View gird-c1a filtered variants 17 rs1714865
dbSNP Clinvar
21318821 1839.77 A C MG_SNP_Filter 0/1 936 NON_SYNONYMOUS_CODING MODERATE None 0.34146 0.81 0.04 None None None None None None KCNJ12|0.437556296|18.82%
View gird-c1a filtered variants 17 rs35011501
dbSNP Clinvar
21318912 727.77 C A MG_SNP_Filter 0/1 493 SYNONYMOUS_CODING LOW None None None None None None None KCNJ12|0.437556296|18.82%

KIR3DL2

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 gird-c1a filtered variants 19 rs3188286
dbSNP Clinvar
55363719 762.77 C G MG_SNP_Filter 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.11002 0.11000 0.18401 0.05 0.25 None None None None None None KIR3DL1|0.000640018|97.61%,KIR3DL2|0.000627152|97.71%