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

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, MCM3AP, NRIP1, PCNT, PFKL, PIGP, RIPK4, RSPH1, SIK1, SON, SYNJ1, TMPRSS15, TMPRSS3, WDR4,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CLDN14 Deafness, autosomal recessive 29, 614035 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL6A2 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
?Myosclerosis, congenital, 255600 (3)
CRYAA Cataract 9, multiple types, 604219 (3)
FTCD Glutamate formiminotransferase deficiency, 229100 (3)
IFNAR2 {Hepatitis B virus, susceptibility to}, 610424 (3)
?Immunodeficiency 45, 616669 (3)
ITGB2 Leukocyte adhesion deficiency, 116920 (3)
KCNE1 Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Long QT syndrome 5, 613695 (3)
KCNJ6 Keppen-Lubinsky syndrome, 614098 (3)
LIPI {Hypertriglyceridemia, susceptibility to}, 145750 (3)
LSS Cataract 44, 616509 (3)
Hypotrichosis 14, 618275 (3)
MCM3AP Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
NRIP1 ?Congenital anomalies of kidney and urinary tract 3, 618270 (3)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PFKL Hemolytic anemia due to phosphofructokinase deficiency (1)
PIGP ?Epileptic encephalopathy, early infantile, 55, 617599 (3)
RIPK4 CHAND syndrome, 214350 (3)
Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RSPH1 Ciliary dyskinesia, primary, 24, 615481 (3)
SIK1 Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON ZTTK syndrome, 617140 (3)
SYNJ1 Epileptic encephalopathy, early infantile, 53, 617389 (3)
Parkinson disease 20, early-onset, 615530 (3)
TMPRSS15 Enterokinase deficiency, 226200 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)
WDR4 Galloway-Mowat syndrome 6, 618347 (3)
Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3)

Genes at Clinical Genomics Database

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, IL10RB, ITGB2, KCNE1, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, RSPH1, SIK1, TMPRSS15, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CLDN14 Deafness, autosomal recessive 29
COL18A1 Knobloch syndrome 1
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
COL6A2 Ullrich congenital muscular dystrophy 1
Myosclerosis, congenital
Bethlem myopathy 1
Epilepsy, progressive myoclonic, autosomal recessive
CRYAA Cataract 9, multiple types
FTCD Glutamate formiminotransferase deficiency
IFNAR2 Immunodeficiency 45
IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive
ITGB2 Leukocyte adhesion deficiency, type I
KCNE1 Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
KCNJ6 Keppen-Lubinsky syndrome
LIPI Hypertriglyceridemia, familial
LSS Cataract 44
NRIP1 Schizophrenia
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
RIPK4 Popliteal pterygium syndrome, lethal type
Bartsocas-Papas syndrome
RSPH1 Ciliary dyskinesia, primary, 24
SIK1 Epileptic encephalopathy, early infantile 30
TMPRSS15 Enterokinase deficiency
TMPRSS3 Deafness, autosomal recessive 10
Deafness, autosomal recessive 8

Genes at HGMD

Summary

Number of Variants: 659
Number of Genes: 140

Export to: CSV

ABCG1

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 46651510241455_annotated 21 rs915843
dbSNP Clinvar
43679554 535.77 C T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.20807 0.20810 0.00 0.00 None None None None None None ABCG1|0.367260015|22.94%
View 46651510241455_annotated 21 rs7281684
dbSNP Clinvar
43676586 1213.77 A T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.09525 0.09525 0.00 None None None None None None ABCG1|0.367260015|22.94%
View 46651510241455_annotated 21 rs915841
dbSNP Clinvar
43679438 953.77 T C PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.20986 0.20990 None None None None None None ABCG1|0.367260015|22.94%
View 46651510241455_annotated 21 rs915842
dbSNP Clinvar
43679513 873.77 C T PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.19968 0.19970 None None None None None None ABCG1|0.367260015|22.94%

ADAMTS1

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 46651510241455_annotated 21 rs436525
dbSNP Clinvar
28212760 3478.77 G A PASS 0/1 229 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.32493 None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs3838077,rs397841322
dbSNP Clinvar
28215836 423.73 GC G PASS 0/1 25 None None None 0.68890 0.68890 None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs445784
dbSNP Clinvar
28216692 867.77 G T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.67812 0.67810 0.16880 None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs428785
dbSNP Clinvar
28216595 971.77 C G PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.68910 0.68910 0.18987 0.25 0.00 None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs370850
dbSNP Clinvar
28216066 264.77 C T PASS 0/1 44 None None None 0.68810 0.68810 0.20276 None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs373460567
dbSNP Clinvar
28215826 524.73 C CACA PASS 0/1 25 None None None None None None None None None ADAMTS1|0.304173311|27.34%
View 46651510241455_annotated 21 rs434857
dbSNP Clinvar
28217178 300.77 T G PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.68890 0.68890 0.17773 None None None None None None ADAMTS1|0.304173311|27.34%

ADAMTS5

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 46651510241455_annotated 21 rs2830585
dbSNP Clinvar
28305212 1503.77 C T PASS 0/1 156 NON_SYNONYMOUS_CODING MODERATE None 0.09884 0.09884 0.13002 0.01 1.00 None None None None None None ADAMTS5|0.324991256|25.8%
View 46651510241455_annotated 21 rs226794
dbSNP Clinvar
28302355 3523.77 A G PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.80970 0.80970 0.08527 1.00 0.00 None None None None None None ADAMTS5|0.324991256|25.8%

ADARB1

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 46651510241455_annotated 21 rs1051367
dbSNP Clinvar
46641968 9916.77 G A PASS 1/1 329 SYNONYMOUS_CODING LOW None 0.49401 0.49400 0.49692 None None None None None None ADARB1|0.037848146|66.51%

AF165138.7

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 46651510241455_annotated 21 rs456067
dbSNP Clinvar
15974409 525.77 T C SNP_QC 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None None

AIRE

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 46651510241455_annotated 21 rs878081
dbSNP Clinvar
45708277 1623.77 C T PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.13319 0.13320 0.18679 None None None None None None AIRE|0.006628229|83.92%
View 46651510241455_annotated 21 rs1800521
dbSNP Clinvar
45712977 427.77 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.35623 0.35620 0.39350 None None None None None None AIRE|0.006628229|83.92%
View 46651510241455_annotated 21 rs1133779
dbSNP Clinvar
45717550 567.77 T C PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.53035 0.53040 0.49438 None None None None None None AIRE|0.006628229|83.92%

AP001468.1

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 46651510241455_annotated 21 rs2187120
dbSNP Clinvar
47612466 2798.77 A G PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.58087 0.58090 None None None None None None LSS|0.346361251|24.39%
View 46651510241455_annotated 21 rs146297977
dbSNP Clinvar
47612512 3129.73 C CTG PASS 0/1 209 FRAME_SHIFT HIGH None 0.72105 0.72100 None None None None None None LSS|0.346361251|24.39%
View 46651510241455_annotated 21 rs2187121
dbSNP Clinvar
47612471 3042.77 T C PASS 0/1 180 NON_SYNONYMOUS_CODING MODERATE None 0.58087 0.58090 0.19 0.92 None None None None None None LSS|0.346361251|24.39%

ATP5O

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 46651510241455_annotated 21 rs4591
dbSNP Clinvar
35281393 1397.77 A G PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.70208 0.70210 0.29940 None None None None None None ATP5O|0.055947808|60.93%
View 46651510241455_annotated 21 rs9980730
dbSNP Clinvar
35275955 7194.77 G A PASS 1/1 245 None None None 0.99101 0.99100 0.02237 None None None None None None ATP5O|0.055947808|60.93%

B3GALT5

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 46651510241455_annotated 21 rs734413
dbSNP Clinvar
41032804 3860.77 G A PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.62939 0.62940 0.33746 None None None None None None B3GALT5|0.004441095|86.45%
View 46651510241455_annotated 21 rs3746887
dbSNP Clinvar
41032740 4806.77 T C PASS 1/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.65336 0.65340 0.31493 1.00 0.00 None None None None None None B3GALT5|0.004441095|86.45%

BACE2

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 46651510241455_annotated 21 rs1046210
dbSNP Clinvar
42622786 1255.77 C T PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.41893 0.41890 0.30132 None None None None None None BACE2|0.031049204|68.94%

BACH1

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 46651510241455_annotated 21 rs363431
dbSNP Clinvar
30969901 446.77 T C PASS 0/1 41 None None None 0.61082 0.61080 0.00 0.00 None None None None None None BACH1|0.113830282|48.51%,GRIK1|0.993633799|0.9%,GRIK1-AS2|0.001444575|93.08%
View 46651510241455_annotated 21 rs388707
dbSNP Clinvar
30714776 2195.77 T C PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.49285 None None None None None None BACH1|0.113830282|48.51%

BRWD1

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 46651510241455_annotated 21 rs2836972
dbSNP Clinvar
40652142 1355.77 G A PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.21506 0.21510 0.33308 None None None None None None BRWD1|0.163713366|41.06%
View 46651510241455_annotated 21 rs6517529
dbSNP Clinvar
40584598 144.77 C T PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.85164 0.85160 0.05362 None None None None None None BRWD1|0.163713366|41.06%
View 46651510241455_annotated 21 rs1041439
dbSNP Clinvar
40571246 2144.77 A G PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.85284 0.85280 0.05336 0.52 0.00 None None None None None None BRWD1|0.163713366|41.06%

C21orf128

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 46651510241455_annotated 21 rs220111
dbSNP Clinvar
43523941 8596.77 C A PASS 1/1 272 NON_SYNONYMOUS_CODING MODERATE None 0.30631 0.30630 0.30740 0.03 0.74 None None None None None None UMODL1|0.002901681|88.83%,UMODL1-AS1|0.000431351|98.79%

C21orf140

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 46651510241455_annotated 21 rs61746786
dbSNP Clinvar
35773137 4896.77 C T PASS 1/1 152 SYNONYMOUS_CODING LOW None 0.13578 0.13580 None None None None None None SMIM11|0.019757234|74.32%

C21orf2

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 46651510241455_annotated 21 rs11870
dbSNP Clinvar
45759045 171.77 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.32608 0.32610 0.24219 None None None None None None C21orf2|0.021974871|73.18%

C21orf33

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 46651510241455_annotated 21 rs2838497
dbSNP Clinvar
45564766 3109.77 C G PASS 0/1 292 NON_SYNONYMOUS_CODING MODERATE None 0.13159 0.13160 0.07820 0.21 0.12 None None None None None None C21orf33|0.016835395|76%
View 46651510241455_annotated 21 rs968714
dbSNP Clinvar
45553596 2178.77 T C PASS 0/1 229 NON_SYNONYMOUS_CODING MODERATE None 0.59185 0.59190 0.34155 0.83 0.00 None None None None None None C21orf33|0.016835395|76%
View 46651510241455_annotated 21 rs7676
dbSNP Clinvar
45565473 1866.77 C T PASS 1/1 59 None None None 0.75200 0.75200 None None None None None None C21orf33|0.016835395|76%

C21orf49

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 46651510241455_annotated 21 rs72564613
dbSNP Clinvar
34169317 2703.73 C CT PASS 1/1 70 FRAME_SHIFT HIGH None 0.73183 0.73180 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

C21orf58

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 46651510241455_annotated 21 rs71318063,rs759135936,rs112899928,rs35902237
dbSNP Clinvar
47721985 2602.73 A ATGG PASS 1/1 60 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.27596 0.27600 None None None None None None C21orf58|0.001829013|91.47%
View 46651510241455_annotated 21 rs13047478
dbSNP Clinvar
47734659 1374.77 G A PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.28794 0.28790 0.26590 0.19 0.07 None None None None None None C21orf58|0.001829013|91.47%

C21orf62

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 46651510241455_annotated 21 rs74617086
dbSNP Clinvar
34166190 3559.77 A T PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%
View 46651510241455_annotated 21 rs2231390
dbSNP Clinvar
34166343 7896.77 C T PASS 1/1 250 SYNONYMOUS_CODING LOW None 0.72744 0.72740 0.28794 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

C21orf67

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 46651510241455_annotated 21 rs11088971
dbSNP Clinvar
46355710 3572.77 A G PASS 1/1 113 SYNONYMOUS_CODING LOW None 0.46286 0.46290 0.49737 None None None None None None LINC01547|0.001110417|94.89%

C21orf88

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 46651510241455_annotated 21 rs662571
dbSNP Clinvar
40969826 3593.77 G C PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.99940 0.99940 0.00110 0.03 0.00 None None None None None None B3GALT5|0.004441095|86.45%,B3GALT5-AS1|0.00047299|98.57%

C21orf91

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 46651510241455_annotated 21 rs2824495
dbSNP Clinvar
19169218 2878.77 G C PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.24461 0.24460 0.20607 0.90 0.08 None None None None None None C21orf91|0.173207879|39.92%

C2CD2

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 46651510241455_annotated 21 rs3746906
dbSNP Clinvar
43327856 418.77 A G PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.60743 0.60740 0.36568 None None None None None None C2CD2|0.005649792|85.05%
View 46651510241455_annotated 21 rs3746904
dbSNP Clinvar
43327793 102.77 C T PASS 0/1 11 SYNONYMOUS_CODING LOW None 0.36582 0.36580 0.35322 None None None None None None C2CD2|0.005649792|85.05%

CBR1

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 46651510241455_annotated 21 rs25678
dbSNP Clinvar
37442632 1851.77 G C PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.16054 0.16050 0.12097 None None None None None None SETD4|0.031167746|68.91%,CBR1|0.018056419|75.24%
View 46651510241455_annotated 21 rs2835265
dbSNP Clinvar
37444696 2909.77 C T PASS 0/1 273 None None None 0.12640 0.12640 0.08596 0.00 None None None None None None SETD4|0.031167746|68.91%,CBR1|0.018056419|75.24%
View 46651510241455_annotated 21 rs20572
dbSNP Clinvar
37444973 2150.77 C T PASS 0/1 218 SYNONYMOUS_CODING LOW None 0.12520 0.12520 0.08635 None None None None None None SETD4|0.031167746|68.91%,CBR1|0.018056419|75.24%
View 46651510241455_annotated 21 rs1005696
dbSNP Clinvar
37443480 1069.77 T G PASS 0/1 99 None None None 0.59685 0.59680 0.71 0.00 None None None None None None SETD4|0.031167746|68.91%,CBR1|0.018056419|75.24%

CBR3

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 46651510241455_annotated 21 rs881711
dbSNP Clinvar
37507745 679.77 C T PASS 0/1 84 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%
View 46651510241455_annotated 21 rs1056892
dbSNP Clinvar
37518706 4047.77 G A PASS 0/1 370 NON_SYNONYMOUS_CODING MODERATE None 0.42712 0.42710 0.39874 0.07 0.35 None None None None None None CBR3|0.052541759|61.89%

CBS

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 46651510241455_annotated 21 rs1801181
dbSNP Clinvar
44480616 766.77 G A PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.29553 0.29550 0.26269 None None None None None None CBS|0.170288794|40.28%

CLDN14

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 46651510241455_annotated 21 rs219779
dbSNP Clinvar
37833751 2114.77 G A PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.19010 0.19010 0.27626 None None None None None None CLDN14|0.178050404|39.29%

CLDN8

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 46651510241455_annotated 21 rs686364
dbSNP Clinvar
31587793 2035.77 A G PASS 0/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.41873 0.41870 0.38428 1.00 0.00 None None None None None None CLDN8|0.022912612|72.76%

CLIC6

Omim - GeneCards - NCBI
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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 46651510241455_annotated 21 rs9680380
dbSNP Clinvar
36042203 93.03 G C PASS 1/1 4 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%
View 46651510241455_annotated 21 rs13049028
dbSNP Clinvar
36042579 93.77 C G PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.22284 0.22280 0.15756 0.69 0.00 None None None None None None CLIC6|0.002510101|89.68%
View 46651510241455_annotated 21 rs13049239
dbSNP Clinvar
36042584 78.77 G A PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.14250 None None None None None None CLIC6|0.002510101|89.68%
View 46651510241455_annotated 21 rs6517254
dbSNP Clinvar
36080290 314.77 C T PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.37001 0.37000 0.46179 None None None None None None CLIC6|0.002510101|89.68%

COL18A1

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 46651510241455_annotated 21 rs914230
dbSNP Clinvar
46875564 4144.77 T C PASS 1/1 145 SYNONYMOUS_CODING LOW None 0.98842 0.98840 0.03067 None None None None None None COL18A1|0.045578537|64.02%
View 46651510241455_annotated 21 rs112723616
dbSNP Clinvar
46900670 907.77 C T PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.01358 0.01358 0.01181 None None None None None None COL18A1|0.045578537|64.02%
View 46651510241455_annotated 21 rs149296338,rs78227997
dbSNP Clinvar
46924425 127.87 CG... C PASS 1/1 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 46651510241455_annotated 21 rs1050351
dbSNP Clinvar
46929467 261.77 G A PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.50359 0.50360 0.37778 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%

COL6A1

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 46651510241455_annotated 21 rs1980982
dbSNP Clinvar
47410931 2572.77 T C PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.54493 0.54490 0.37606 None None None None None None COL6A1|0.085741402|53.99%

COL6A2

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 46651510241455_annotated 21 rs13052956
dbSNP Clinvar
47545823 5568.77 G A PASS 0/1 298 SYNONYMOUS_CODING LOW None 0.39417 0.39420 0.41273 None None None None None None COL6A2|0.07894144|55.42%
View 46651510241455_annotated 21 rs2839114
dbSNP Clinvar
47545913 2726.77 G A PASS 0/1 189 SYNONYMOUS_CODING LOW None 0.32209 0.32210 0.29156 None None None None None None COL6A2|0.07894144|55.42%
View 46651510241455_annotated 21 rs13046639
dbSNP Clinvar
47545826 5574.77 C T PASS 0/1 295 SYNONYMOUS_CODING LOW None 0.39397 0.39400 0.41258 None None None None None None COL6A2|0.07894144|55.42%
View 46651510241455_annotated 21 rs2839110
dbSNP Clinvar
47538960 864.77 G A PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.27077 0.91 0.00 None None None None None None COL6A2|0.07894144|55.42%
View 46651510241455_annotated 21 rs1042917
dbSNP Clinvar
47545768 4179.77 G A PASS 0/1 368 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.41296 0.10 0.99 None None None None None None COL6A2|0.07894144|55.42%

CRYAA

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 46651510241455_annotated 21 rs872331
dbSNP Clinvar
44589215 722.77 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.50000 0.50000 0.35630 None None None None None None CRYAA|0.039898534|65.8%

CRYZL1

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 46651510241455_annotated 21 rs2834240
dbSNP Clinvar
34968503 786.77 A G PASS 0/1 67 None None None 0.10363 0.10360 None None None None None None CRYZL1|0.143917113|43.88%

CYYR1

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 46651510241455_annotated 21 rs966410
dbSNP Clinvar
27852724 2078.77 A G PASS 0/1 142 None None None 0.45667 0.45670 0.49116 None None None None None None CYYR1|0.026615152|71.08%

DIP2A

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 46651510241455_annotated 21 rs2255397
dbSNP Clinvar
47970581 2262.77 G A PASS 0/1 180 SYNONYMOUS_CODING LOW None 0.26558 0.26560 0.22352 None None None None None None DIP2A|0.064095824|58.86%
View 46651510241455_annotated 21 rs1107065
dbSNP Clinvar
47974582 1310.77 A G PASS 0/1 179 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.35504 None None None None None None DIP2A|0.064095824|58.86%

DNAJC28

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 46651510241455_annotated 21 rs139852262,rs3834674
dbSNP Clinvar
34860749 1322.73 CA... C PASS 0/1 50 FRAME_SHIFT HIGH None 0.15176 0.15180 0.16323 None None None None None None DNAJC28|0.046400837|63.77%

DOPEY2

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 46651510241455_annotated 21 rs2835322
dbSNP Clinvar
37609571 4563.77 T C PASS 0/1 343 SYNONYMOUS_CODING LOW None 0.43990 0.43990 0.47424 None None None None None None DOPEY2|0.051933664|62.08%
View 46651510241455_annotated 21 rs4817788
dbSNP Clinvar
37617630 7295.77 T G PASS 1/1 249 NON_SYNONYMOUS_CODING MODERATE None 0.94928 0.94930 0.09949 1.00 0.00 None None None None None None DOPEY2|0.051933664|62.08%

DSCR4

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 46651510241455_annotated 21 rs2836061
dbSNP Clinvar
39325234 1327.77 C T PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.28255 0.28250 0.00 0.00 None None None None None None DSCR4|0.001091323|94.96%

ETS2

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 46651510241455_annotated 21 rs461155
dbSNP Clinvar
40191638 3237.77 A G PASS 1/1 107 SYNONYMOUS_CODING LOW None 0.58067 0.58070 0.22943 None None None None None None ETS2|0.453014646|18.03%
View 46651510241455_annotated 21 rs457705
dbSNP Clinvar
40191431 7120.77 T G PASS 1/1 229 SYNONYMOUS_CODING LOW None 0.58107 0.58110 0.22874 None None None None None None ETS2|0.453014646|18.03%

EVA1C

Omim - GeneCards - NCBI
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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 46651510241455_annotated 21 rs146014823
dbSNP Clinvar
33785228 260.77 C A PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.01418 0.01418 0.00047 None None None None None None EVA1C|0.061100423|59.56%

FAM3B

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 46651510241455_annotated 21 rs417708
dbSNP Clinvar
42717662 201.77 T C PASS 0/1 35 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

FTCD

Omim - GeneCards - NCBI
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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 46651510241455_annotated 21 rs1047179
dbSNP Clinvar
47558473 156.77 G C PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.48103 0.48100 0.47133 None None None None None None FTCD|0.026135815|71.26%
View 46651510241455_annotated 21 rs12774
dbSNP Clinvar
47556793 276.77 C T PASS 0/1 38 None None None 0.55192 0.55190 0.00 None None None None None None FTCD|0.026135815|71.26%

GART

Omim - GeneCards - NCBI
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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 46651510241455_annotated 21 rs8971
dbSNP Clinvar
34883618 1140.77 T C PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.15216 0.15220 0.17361 0.27 0.30 None None None None None None GART|0.670681358|9.36%
View 46651510241455_annotated 21 rs8788
dbSNP Clinvar
34897113 4267.77 C T PASS 1/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.87420 0.87420 0.19160 1.00 0.00 None None None None None None GART|0.670681358|9.36%

GRIK1

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 46651510241455_annotated 21 rs363504
dbSNP Clinvar
30925928 814.77 A G PASS 0/1 58 None None None 0.10982 0.10980 0.08453 0.87 0.00 None None None None None None BACH1|0.113830282|48.51%,GRIK1|0.993633799|0.9%
View 46651510241455_annotated 21 rs363430
dbSNP Clinvar
30971183 685.77 G A PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.22125 0.22120 0.15370 None None None None None None BACH1|0.113830282|48.51%,GRIK1|0.993633799|0.9%,GRIK1-AS2|0.001444575|93.08%

HUNK

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 46651510241455_annotated 21 rs2070371
dbSNP Clinvar
33368188 556.77 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.70308 0.70310 0.25704 None None None None None None HUNK|0.065973255|58.37%

ICOSLG

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 46651510241455_annotated 21 rs4568033
dbSNP Clinvar
45649778 2123.77 A G PASS 0/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.70687 0.70690 0.00 None None None None None None ICOSLG|0.0015876|92.37%
View 46651510241455_annotated 21 rs11558819
dbSNP Clinvar
45656774 1259.77 C T PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.26917 0.26920 0.28804 0.11 0.73 None None None None None None ICOSLG|0.0015876|92.37%
View 46651510241455_annotated 21 rs7278772
dbSNP Clinvar
45649494 214.77 A G PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None ICOSLG|0.0015876|92.37%
View 46651510241455_annotated 21 rs9974245
dbSNP Clinvar
45649499 214.77 G A PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.00 None None None None None None ICOSLG|0.0015876|92.37%
View 46651510241455_annotated 21 rs13052840
dbSNP Clinvar
45649848 1053.77 T C PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.62280 0.62280 None None None None None None ICOSLG|0.0015876|92.37%

IFNAR1

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 46651510241455_annotated 21 rs2257167
dbSNP Clinvar
34715699 1540.77 G C PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.22883 0.22880 0.14301 0.17 0.37 None None None None None None IFNAR1|0.002595288|89.49%

IFNAR2

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 46651510241455_annotated 21 rs1051393
dbSNP Clinvar
34614255 894.77 T G PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.39177 0.39180 0.27326 0.36 0.00 None None None None None None IFNAR2|0.001133002|94.77%

IGHV1OR21-1

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 46651510241455_annotated 21 rs1961808
dbSNP Clinvar
10862853 3055.77 G A PASS 0/1 394 NON_SYNONYMOUS_CODING MODERATE None 0.39015 0.18 0.00 None None None None None None None
View 46651510241455_annotated 21 rs1807747
dbSNP Clinvar
10862874 10703.77 A G PASS 0/1 508 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None
View 46651510241455_annotated 21 rs3883944
dbSNP Clinvar
10862947 12624.77 G A PASS 0/1 765 SYNONYMOUS_CODING LOW None None None None None None None None