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+ Genes 118

+ Genes associated with diseases 24

Genes at Omim

AIRE, CBS, COL18A1, COL6A1, COL6A2, FTCD, HLCS, ITGB2, KCNE1, KCNJ6, LIPI, LSS, MCM3AP, NRIP1, PCNT, PFKL, PIGP, RIPK4, 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)
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)
FTCD Glutamate formiminotransferase deficiency, 229100 (3)
HLCS Holocarboxylase synthetase deficiency, 253270 (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)
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, COL18A1, COL6A1, COL6A2, FTCD, HLCS, IL10RB, ITGB2, KCNE1, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, SIK1, TMPRSS15, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS Homocystinuria due to cystathionine beta-synthase deficiency
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
FTCD Glutamate formiminotransferase deficiency
HLCS Holocarboxylase synthetase deficiency
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
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: 1299
Number of Genes: 118

Export to: CSV

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 myexome-1 21 rs445784
dbSNP Clinvar 		28216692 2032.77 G T PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.67812 0.67810 0.16880 None None None None None None ADAMTS1|0.304173311|27.34%
View myexome-1 21 rs370850
dbSNP Clinvar 		28216066 1025.77 C T PASS 1/1 28 None None None 0.68810 0.68810 0.20276 None None None None None None ADAMTS1|0.304173311|27.34%
View myexome-1 21 rs373460567
dbSNP Clinvar 		28215826 850.77 C CACA PASS 1/1 20 None None None None None None None None None ADAMTS1|0.304173311|27.34%
View myexome-1 21 rs3838077,rs397841322
dbSNP Clinvar 		28215836 570.77 GC G PASS 1/1 16 None None None 0.68890 0.68890 None None None None None None ADAMTS1|0.304173311|27.34%
View myexome-1 21 rs436525
dbSNP Clinvar 		28212760 4423.77 G A PASS 1/1 139 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.32493 None None None None None None ADAMTS1|0.304173311|27.34%
View myexome-1 21 rs428785
dbSNP Clinvar 		28216595 1624.77 C G PASS 1/1 52 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 myexome-1 21 rs434857
dbSNP Clinvar 		28217178 1186.77 T G PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.68890 0.68890 0.17773 None None None None None None ADAMTS1|0.304173311|27.34%
View myexome-1 21 rs409630
dbSNP Clinvar 		28216674 895.77 G C PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.17672 0.17670 0.15723 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 myexome-1 21 rs55933916
dbSNP Clinvar 		28338423 1544.77 C G PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.09924 0.09924 0.16703 None None None None None None ADAMTS5|0.324991256|25.8%
View myexome-1 21 rs457947
dbSNP Clinvar 		28338298 1730.77 C G PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.13998 0.14000 0.18702 0.30 0.05 None None None None None None ADAMTS5|0.324991256|25.8%
View myexome-1 21 rs226794
dbSNP Clinvar 		28302355 3236.77 A G PASS 1/1 103 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 myexome-1 21 rs1051367
dbSNP Clinvar 		46641968 3719.77 G A PASS 0/1 299 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 myexome-1 21 rs456067
dbSNP Clinvar 		15974409 726.77 T C PASS 1/1 20 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 myexome-1 21 rs1055311
dbSNP Clinvar 		45709568 1459.77 C T PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.11761 0.11760 0.20209 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 myexome-1 21 rs2187121
dbSNP Clinvar 		47612471 1162.77 T C PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.58087 0.58090 0.19 0.92 None None None None None None LSS|0.346361251|24.39%
View myexome-1 21 rs146297977
dbSNP Clinvar 		47612512 947.77 C CTG PASS 0/1 88 FRAME_SHIFT HIGH None 0.72105 0.72100 None None None None None None LSS|0.346361251|24.39%
View myexome-1 21 rs2187120
dbSNP Clinvar 		47612466 1049.77 A G PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.58087 0.58090 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 myexome-1 21 rs9980730
dbSNP Clinvar 		35275955 4851.77 G A PASS 1/1 156 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 myexome-1 21 rs734413
dbSNP Clinvar 		41032804 1419.77 G A PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.62939 0.62940 0.33746 None None None None None None B3GALT5|0.004441095|86.45%
View myexome-1 21 rs3746887
dbSNP Clinvar 		41032740 1522.77 T C PASS 0/1 139 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 myexome-1 21 rs1046210
dbSNP Clinvar 		42622786 1455.77 C T PASS 0/1 114 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 myexome-1 21 rs363431
dbSNP Clinvar 		30969901 182.77 T C PASS 0/1 29 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 myexome-1 21 rs184207234
dbSNP Clinvar 		30969992 106.77 A C PASS 0/1 23 None None None 0.00080 0.00080 0.01 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 myexome-1 21 rs388707
dbSNP Clinvar 		30714776 2134.77 T C PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.49285 None None None None None None BACH1|0.113830282|48.51%
View myexome-1 21 rs363465
dbSNP Clinvar 		30970005 81.77 C G PASS 0/1 21 None None None 0.03834 0.03834 0.00 None None None None None None BACH1|0.113830282|48.51%,GRIK1|0.993633799|0.9%,GRIK1-AS2|0.001444575|93.08%

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 myexome-1 21 rs6517529
dbSNP Clinvar 		40584598 518.77 C T PASS 1/1 18 SYNONYMOUS_CODING LOW None 0.85164 0.85160 0.05362 None None None None None None BRWD1|0.163713366|41.06%
View myexome-1 21 rs1041439
dbSNP Clinvar 		40571246 5026.77 A G PASS 1/1 141 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%
View myexome-1 21 rs2836972
dbSNP Clinvar 		40652142 1071.77 G A PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.21506 0.21510 0.33308 None None None None None None BRWD1|0.163713366|41.06%
View myexome-1 21 rs2183573
dbSNP Clinvar 		40574305 595.77 A G PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.61861 0.61860 0.40143 0.03 0.01 None None None None None None BRWD1|0.163713366|41.06%
View myexome-1 21 rs2056844
dbSNP Clinvar 		40670460 775.77 G C PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.47844 0.47840 0.45725 0.28 0.76 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 myexome-1 21 rs11701371
dbSNP Clinvar 		43523972 1963.77 G C PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.20048 0.20050 0.19583 None None None None None None UMODL1|0.002901681|88.83%,UMODL1-AS1|0.000431351|98.79%

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 myexome-1 21 rs768524759
dbSNP Clinvar 		45750347 1365.77 G A PASS 0/1 97 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.14 0.00 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 myexome-1 21 rs968714
dbSNP Clinvar 		45553596 2147.77 T C PASS 0/1 152 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 myexome-1 21 rs7676
dbSNP Clinvar 		45565473 399.77 C T PASS 0/1 31 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 myexome-1 21 rs72564613
dbSNP Clinvar 		34169317 897.77 C CT PASS 0/1 68 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 myexome-1 21 rs13047478
dbSNP Clinvar 		47734659 275.77 G A PASS 0/1 34 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%
View myexome-1 21 rs71318063,rs759135936,rs112899928,rs35902237
dbSNP Clinvar 		47721985 620.77 A ATGG PASS 0/1 34 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.27596 0.27600 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 myexome-1 21 rs74617086
dbSNP Clinvar 		34166190 3428.77 A T PASS 1/1 100 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 myexome-1 21 rs2231390
dbSNP Clinvar 		34166343 2900.77 C T PASS 0/1 174 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%

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 myexome-1 21 rs662571
dbSNP Clinvar 		40969826 2897.77 G C PASS 1/1 90 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 myexome-1 21 rs1047978
dbSNP Clinvar 		19169155 2145.77 G C PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.26058 0.26060 0.25946 0.08 0.97 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 myexome-1 21 rs3746906
dbSNP Clinvar 		43327856 365.77 A G PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.60743 0.60740 0.36568 None None None None None None C2CD2|0.005649792|85.05%
View myexome-1 21 rs2277795
dbSNP Clinvar 		43327117 362.77 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.30092 0.30090 0.26703 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 myexome-1 21 rs1005696
dbSNP Clinvar 		37443480 632.77 T G PASS 0/1 82 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 myexome-1 21 rs881711
dbSNP Clinvar 		37507745 698.77 C T PASS 0/1 64 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%
View myexome-1 21 rs1056892
dbSNP Clinvar 		37518706 3132.77 G A PASS 0/1 237 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
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 myexome-1 21 rs1801181
dbSNP Clinvar 		44480616 471.77 G A PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.29553 0.29550 0.26269 None None None None None None CBS|0.170288794|40.28%

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 myexome-1 21 rs686364
dbSNP Clinvar 		31587793 1393.77 A G PASS 0/1 101 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
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 myexome-1 21 rs6517254
dbSNP Clinvar 		36080290 880.77 C T PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.37001 0.37000 0.46179 None None None None None None CLIC6|0.002510101|89.68%
View myexome-1 21 rs9680380
dbSNP Clinvar 		36042203 44.74 G C PASS 1/1 2 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%

COL18A1
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 myexome-1 21 rs8133886
dbSNP Clinvar 		46876580 1284.77 C T PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.42652 0.42650 0.00 None None None None None None COL18A1|0.045578537|64.02%
View myexome-1 21 rs2236452
dbSNP Clinvar 		46876173 906.77 C T PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.20827 0.20830 0.20629 None None None None None None COL18A1|0.045578537|64.02%
View myexome-1 21 rs1050351
dbSNP Clinvar 		46929467 227.78 G A PASS 1/1 8 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%
View myexome-1 21 rs2236451
dbSNP Clinvar 		46876083 1443.77 A G PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.37560 0.37560 0.38293 None None None None None None COL18A1|0.045578537|64.02%
View myexome-1 21 rs914230
dbSNP Clinvar 		46875564 3901.77 T C PASS 1/1 121 SYNONYMOUS_CODING LOW None 0.98842 0.98840 0.03067 None None None None None None COL18A1|0.045578537|64.02%
View myexome-1 21 rs11702494
dbSNP Clinvar 		46876306 1741.77 G A PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.20088 0.20090 0.25340 0.00 None None None None None None COL18A1|0.045578537|64.02%
View myexome-1 21 rs149296338,rs78227997
dbSNP Clinvar 		46924425 312.78 CG... C PASS 1/1 8 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View myexome-1 21 rs11702425
dbSNP Clinvar 		46908355 4407.77 T C PASS 1/1 134 SYNONYMOUS_CODING LOW None 0.31989 0.31990 0.31287 None None None None None None COL18A1|0.045578537|64.02%

COL6A1
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 myexome-1 21 rs13051496
dbSNP Clinvar 		47423509 4001.77 C T PASS 1/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.10883 0.10880 0.16187 0.06 0.32 None None None None None None COL6A1|0.085741402|53.99%
View myexome-1 21 rs150432347
dbSNP Clinvar 		47423482 1561.77 C T PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00100 0.10 0.76 None None None None None None COL6A1|0.085741402|53.99%
View myexome-1 21 rs1980982
dbSNP Clinvar 		47410931 1239.77 T C PASS 0/1 103 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
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 21 rs2839114
dbSNP Clinvar 		47545913 5713.77 G A PASS 1/1 170 SYNONYMOUS_CODING LOW None 0.32209 0.32210 0.29156 None None None None None None COL6A2|0.07894144|55.42%
View myexome-1 21 rs141703710
dbSNP Clinvar 		47532093 1052.77 G A PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00769 0.67 0.01 None None None None None None COL6A2|0.07894144|55.42%
View myexome-1 21 rs2839110
dbSNP Clinvar 		47538960 1529.77 G A PASS 1/1 53 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 myexome-1 21 rs13046639
dbSNP Clinvar 		47545826 8480.77 C T PASS 1/1 192 SYNONYMOUS_CODING LOW None 0.39397 0.39400 0.41258 None None None None None None COL6A2|0.07894144|55.42%
View myexome-1 21 rs13052956
dbSNP Clinvar 		47545823 8532.77 G A PASS 1/1 188 SYNONYMOUS_CODING LOW None 0.39417 0.39420 0.41273 None None None None None None COL6A2|0.07894144|55.42%
View myexome-1 21 rs1042917
dbSNP Clinvar 		47545768 6424.77 G A PASS 1/1 205 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%

DIP2A
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 myexome-1 21 rs2070435
dbSNP Clinvar 		47961711 1981.77 G A PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.38738 0.38740 0.37032 None None None None None None DIP2A|0.064095824|58.86%
View myexome-1 21 rs7279002
dbSNP Clinvar 		47910523 830.77 A G PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.35883 0.35880 0.29676 None None None None None None DIP2A|0.064095824|58.86%
View myexome-1 21 rs1107065
dbSNP Clinvar 		47974582 1077.77 A G PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.35504 None None None None None None DIP2A|0.064095824|58.86%

DNMT3L
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 myexome-1 21 rs7354779
dbSNP Clinvar 		45670770 116.77 T C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.16514 0.16510 0.25496 0.00 0.43 None None None None None None DNMT3L|0.006860897|83.61%

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 myexome-1 21 rs9978057
dbSNP Clinvar 		37664501 307.77 G A PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.19449 0.19450 0.27188 None None None None None None DOPEY2|0.051933664|62.08%
View myexome-1 21 rs2835322
dbSNP Clinvar 		37609571 2681.77 T C PASS 0/1 227 SYNONYMOUS_CODING LOW None 0.43990 0.43990 0.47424 None None None None None None DOPEY2|0.051933664|62.08%
View myexome-1 21 rs4817788
dbSNP Clinvar 		37617630 5221.77 T G PASS 1/1 171 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%
View myexome-1 21 rs150192185
dbSNP Clinvar 		37602869 2286.77 C T PASS 0/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00092 0.03 0.96 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 myexome-1 21 rs111572706
dbSNP Clinvar 		39492430 366.77 C T PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.01198 0.01198 0.02245 None None None None None None DSCR4|0.001091323|94.96%

ETS2
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 myexome-1 21 rs457705
dbSNP Clinvar 		40191431 4061.77 T G PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.58107 0.58110 0.22874 None None None None None None ETS2|0.453014646|18.03%
View myexome-1 21 rs461155
dbSNP Clinvar 		40191638 1575.77 A G PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.58067 0.58070 0.22943 None None None None None None ETS2|0.453014646|18.03%
View myexome-1 21 rs115786160
dbSNP Clinvar 		40190443 425.77 C T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.01558 0.01558 0.02322 None None None None None None ETS2|0.453014646|18.03%

EVA1C
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 myexome-1 21 rs1129157
dbSNP Clinvar 		33887131 622.77 G A PASS 1/1 18 SYNONYMOUS_CODING LOW None 0.49082 0.49080 0.37060 None None None None None None EVA1C|0.061100423|59.56%

FAM3B
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 myexome-1 21 rs417708
dbSNP Clinvar 		42717662 234.77 T C PASS 0/1 29 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
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 myexome-1 21 rs12774
dbSNP Clinvar 		47556793 1214.77 C T PASS 1/1 41 None None None 0.55192 0.55190 0.00 None None None None None None FTCD|0.026135815|71.26%
View myexome-1 21 rs1047179
dbSNP Clinvar 		47558473 134.77 G C PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.48103 0.48100 0.47133 None None None None None None FTCD|0.026135815|71.26%
View myexome-1 21 rs61735841
dbSNP Clinvar 		47558552 460.77 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.02895 0.02895 0.07470 0.09 0.03 None None None None None None FTCD|0.026135815|71.26%
View myexome-1 21 rs61735836
dbSNP Clinvar 		47572887 560.77 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.07728 0.07728 0.04952 1.00 0.00 None None None None None None FTCD|0.026135815|71.26%

GART
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 myexome-1 21 rs8788
dbSNP Clinvar 		34897113 4542.77 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%

HLCS
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 myexome-1 21 rs748444836
dbSNP Clinvar 		38308772 1889.77 C T PASS 0/1 149 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.28 None None None None None None HLCS|0.002146669|90.61%

HMGN1
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 myexome-1 21 rs34613278
dbSNP Clinvar 		40720494 201.77 C T PASS 0/1 12 None None None 0.05911 0.05911 0.07683 0.22 0.01 None None None None None None HMGN1|0.109298147|49.32%

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 myexome-1 21 rs4511811
dbSNP Clinvar 		45649666 1226.77 G A PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.26717 0.26720 0.01 0.86 None None None None None None ICOSLG|0.0015876|92.37%
View myexome-1 21 rs7278772
dbSNP Clinvar 		45649494 454.77 A G PASS 1/1 12 SYNONYMOUS_CODING LOW None None None None None None None ICOSLG|0.0015876|92.37%
View myexome-1 21 rs9974245
dbSNP Clinvar 		45649499 180.77 G A PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.00 None None None None None None ICOSLG|0.0015876|92.37%
View myexome-1 21 rs4818891
dbSNP Clinvar 		45649543 77.77 G C PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.01 None None None None None None ICOSLG|0.0015876|92.37%
View myexome-1 21 rs4568033
dbSNP Clinvar 		45649778 5012.77 A G PASS 1/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.70687 0.70690 0.00 None None None None None None ICOSLG|0.0015876|92.37%
View myexome-1 21 rs13052840
dbSNP Clinvar 		45649848 3160.77 T C PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.62280 0.62280 None None None None None None ICOSLG|0.0015876|92.37%
View myexome-1 21 rs11558819
dbSNP Clinvar 		45656774 1534.77 C T PASS 0/1 116 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%

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 myexome-1 21 rs1961808
dbSNP Clinvar 		10862853 4066.77 G A PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.39015 0.18 0.00 None None None None None None None
View myexome-1 21 rs3883944
dbSNP Clinvar 		10862947 10387.77 G A PASS 1/1 321 SYNONYMOUS_CODING LOW None None None None None None None None
View myexome-1 21 rs3916645
dbSNP Clinvar 		10862846 6604.77 A T PASS 1/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.87320 0.87320 0.06054 1.00 0.00 None None None None None None None
View myexome-1 21 rs1807747
dbSNP Clinvar 		10862874 6506.77 A G PASS 1/1 200 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None

IGSF5
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 myexome-1 21 rs12626544
dbSNP Clinvar 		41137499 4093.77 A G PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.39597 0.39600 0.30478 None None None None None None IGSF5|0.001638685|92.17%