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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

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MCAP

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Genes at Omim

AIRE, CBS, COL18A1, COL6A1, COL6A2, FTCD, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, PCNT, PFKL, RIPK4, RSPH1, SIK1, SON, SYNJ1, TMPRSS3,
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 ?Myosclerosis, congenital, 255600 (3)
Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
FTCD Glutamate formiminotransferase deficiency, 229100 (3)
IFNAR2 ?Immunodeficiency 45, 616669 (3)
{Hepatitis B virus, susceptibility to}, 610424 (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)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PFKL Hemolytic anemia due to phosphofructokinase deficiency (1)
RIPK4 Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RSPH1 Ciliary dyskinesia, primary, 24, 615481 (3)
SIK1 Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON Tokita-Kim syndrome, 617140 (3)
SYNJ1 Parkinson disease 20, early-onset, 615530 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)

Genes at Clinical Genomics Database

AIRE, CBS, COL18A1, COL6A1, COL6A2, 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
COL18A1 Knobloch syndrome 1
COL6A1 Bethlem myopathy 1
Ullrich congenital muscular dystrophy 1
COL6A2 Epilepsy, progressive myoclonic, autosomal recessive
Bethlem myopathy 1
Myosclerosis, congenital
Ullrich congenital muscular dystrophy 1
FTCD Glutamate formiminotransferase deficiency
IFNAR2 Immunodeficiency 45
IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive
ITGB2 Leukocyte adhesion deficiency, type I
KCNE1 Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
KCNJ6 Keppen-Lubinsky syndrome
LIPI Hypertriglyceridemia, familial
LSS Cataract 44
NRIP1 Schizophrenia
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
RIPK4 Bartsocas-Papas syndrome
Popliteal pterygium syndrome, lethal type
RSPH1 Ciliary dyskinesia, primary, 24
SIK1 Epileptic encephalopathy, early infantile 30
TMPRSS15 Enterokinase deficiency
TMPRSS3 Deafness, autosomal recessive 8
Deafness, autosomal recessive 10

Genes at HGMD

Summary

Number of Variants: 2065
Number of Genes: 133

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 mm170241ct 21 rs3838077,rs397841322
dbSNP
28215836 2387.73 GC G . 1/1 62 None None None 0.68890 0.68890 None None None None None None None
View mm170241ct 21 rs434857
dbSNP
28217178 1069.77 T G . 1/1 38 SYNONYMOUS_CODING LOW SILENT 0.68890 0.68890 0.17773 None None None None None None None
View mm170241ct 21 rs445784
dbSNP
28216692 1127.77 G T . 1/1 33 SYNONYMOUS_CODING LOW SILENT 0.67812 0.67810 0.16880 None None None None None None None
View mm170241ct 21 rs409630
dbSNP
28216674 223.77 G C . 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.17672 0.17670 0.15723 None None None None None None None
View mm170241ct 21 rs428785
dbSNP
28216595 697.77 C G . 1/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68910 0.68910 0.18987 0.25 0.00 None None None None None None None
View mm170241ct 21 rs436525
dbSNP
28212760 1732.77 G A . 1/1 50 SYNONYMOUS_CODING LOW SILENT 0.56590 0.56590 0.32493 None None None None None None None
View mm170241ct 21 rs370850
dbSNP
28216066 1036.77 C T . 1/1 30 None None None 0.68810 0.68810 0.20276 None None None None None None None
View mm170241ct 21 rs373460567
dbSNP
28215826 4036.73 C CACA . 1/1 70 None None None None None None None None None None

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 mm170241ct 21 rs55933916
dbSNP
28338423 1195.77 C G . 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.09924 0.09924 0.16703 None None None None None None None
View mm170241ct 21 rs226794
dbSNP
28302355 1742.77 A G . 1/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80970 0.80970 0.08527 1.00 0.00 None None None None None None None
View mm170241ct 21 rs457947
dbSNP
28338298 1118.77 C G . 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13998 0.14000 0.18702 0.30 0.05 None None None None None None None

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 mm170241ct 21 rs1051367
dbSNP
46641968 1307.77 G A . 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.49401 0.49400 0.49692 None None None None None None None

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 mm170241ct 21 rs456067
dbSNP
15974409 2742.77 T C . 1/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 mm170241ct 21 rs878081
dbSNP
45708277 898.77 C T . 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.13319 0.13320 0.18679 None None None None None None None
View mm170241ct 21 rs1133779
dbSNP
45717550 189.77 T C . 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.53035 0.53040 0.49438 None None None None None None None
View mm170241ct 21 rs1800521
dbSNP
45712977 362.77 T C . 1/1 12 SYNONYMOUS_CODING LOW SILENT 0.35623 0.35620 0.39350 None None None None None None None
View mm170241ct 21 rs1055311
dbSNP
45709568 552.77 C T . 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.11761 0.11760 0.20209 None None None None None None None

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 mm170241ct 21 rs2187120
dbSNP
47612466 232.77 A G . 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.58087 0.58090 None None None None None None None
View mm170241ct 21 rs2187121
dbSNP
47612471 210.77 T C . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58087 0.58090 0.19 0.92 None None None None None None None

AP001631.10

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 mm170241ct 21 rs56218428
dbSNP
44579848 260.77 G A . 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10004 0.10000 0.00 0.69 None None None None None None T|.

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 mm170241ct 21 rs9980730
dbSNP
35275955 5315.77 G A . 1/1 159 None None None 0.99101 0.99100 0.02237 None None None None None None None
View mm170241ct 21 rs4591
dbSNP
35281393 496.77 A G . 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.70208 0.70210 0.29940 None None None None None None None

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 mm170241ct 21 rs734413
dbSNP
41032804 3883.77 G A . 1/1 112 SYNONYMOUS_CODING LOW SILENT 0.62939 0.62940 0.33746 None None None None None None None
View mm170241ct 21 rs3746887
dbSNP
41032740 3094.77 T C . 1/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65336 0.65340 0.31493 1.00 0.00 None None None None None None None

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 mm170241ct 21 rs1046210
dbSNP
42622786 787.77 C T . 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.41893 0.41890 0.30132 None None None None None None None

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 mm170241ct 21 rs363431
dbSNP
30969901 619.77 T C . 0/1 52 None None None 0.61082 0.61080 0.00 0.00 None None None None None None None
View mm170241ct 21 rs388707
dbSNP
30714776 1300.77 T C . 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.56590 0.56590 0.49285 None None None None None None None

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 mm170241ct 21 rs1041439
dbSNP
40571246 7283.77 A G . 1/1 209 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85284 0.85280 0.05336 0.52 0.00 None None None None None None None
View mm170241ct 21 rs2056844
dbSNP
40670460 3122.77 G C . 1/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47844 0.47840 0.45725 0.28 0.76 None None None None None None None
View mm170241ct 21 rs2183573
dbSNP
40574305 3251.77 A G . 1/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61861 0.61860 0.40143 0.03 0.01 None None None None None None None
View mm170241ct 21 rs6517529
dbSNP
40584598 9615.77 C T . 1/1 301 SYNONYMOUS_CODING LOW SILENT 0.85164 0.85160 0.05362 None None None None None None None

C21orf119

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 mm170241ct 21 rs11702306
dbSNP
33765560 157.77 C T . 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14876 0.14880 0.17258 0.86 None None None None None None None

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 mm170241ct 21 rs11701371
dbSNP
43523972 732.77 G C . 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.20048 0.20050 0.19583 None None None None None None None

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 mm170241ct 21 rs7676
dbSNP
45565473 270.77 C T . 0/1 19 None None None 0.75200 0.75200 None None None None None None None
View mm170241ct 21 rs968714
dbSNP
45553596 877.77 T C . 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59185 0.59190 0.34155 0.83 0.00 None None None None None None None

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 mm170241ct 21 rs72564613
dbSNP
34169317 2415.73 C CT . 1/1 55 FRAME_SHIFT HIGH 0.73183 0.73180 None None None None None None None

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 mm170241ct 21 rs13047478
dbSNP
47734659 184.77 G A . 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28794 0.28790 0.26590 0.19 0.07 None None None None None None None

C21orf59

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 mm170241ct 21 rs1783091
dbSNP
33964605 396.77 T C . 0/1 20 None None None 0.21586 0.21590 0.00 None None None None None None None
View mm170241ct 21 rs1720127
dbSNP
33964609 352.77 G A . 0/1 18 None None None 0.05451 0.05451 None None None None None None None

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 mm170241ct 21 rs2231390
dbSNP
34166343 3812.77 C T . 1/1 106 SYNONYMOUS_CODING LOW SILENT 0.72744 0.72740 0.28794 None None None None None None None
View mm170241ct 21 rs74617086
dbSNP
34166190 4390.77 A T . 1/1 135 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None

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 mm170241ct 21 rs11088971
dbSNP
46355710 307.77 A G . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.46286 0.46290 0.49737 None None None None None None None

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 mm170241ct 21 rs662571
dbSNP
40969826 2821.77 G C . 1/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99940 0.99940 0.00110 0.03 0.00 None None None None None None None

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 mm170241ct 21 rs3746906
dbSNP
43327856 748.77 A G . 1/1 24 SYNONYMOUS_CODING LOW SILENT 0.60743 0.60740 0.36568 None None None None None None None

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 mm170241ct 21 rs1005696
dbSNP
37443480 772.77 T G . 0/1 53 None None None 0.59685 0.59680 0.71 0.00 None None None None None None None

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 mm170241ct 21 rs1056892
dbSNP
37518706 1153.77 G A . 0/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42712 0.42710 0.39874 0.07 0.35 None None None None None None None
View mm170241ct 21 rs8133052
dbSNP
37507501 341.77 G A . 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36681 0.36680 0.37228 0.60 0.00 None None None None None None None
View mm170241ct 21 rs881712
dbSNP
37507769 558.77 C T . 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.30851 0.30850 0.33905 None None None None None None None
View mm170241ct 21 rs881711
dbSNP
37507745 1509.77 C T . 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.82029 0.82030 0.15339 None None None None None None None

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 mm170241ct 21 rs760124
dbSNP
44475953 881.77 T C . 0/1 68 None None None 0.05631 0.05631 0.01 0.00 None None None None None None None
View mm170241ct 21 rs1801181
dbSNP
44480616 123.77 G A . 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.29553 0.29550 0.26269 None None None None None None None
View mm170241ct 21 rs234706
dbSNP
44485350 531.77 G A . 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.19649 0.19650 0.30609 None None None None None None None

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 mm170241ct 21 rs686364
dbSNP
31587793 940.77 A G . 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41873 0.41870 0.38428 1.00 0.00 None None None None None None None

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 mm170241ct 21 rs13049028
dbSNP
36042579 32.77 C G . 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22284 0.22280 0.15756 0.69 0.00 None None None None None None None
View mm170241ct 21 rs7280973
dbSNP
36041978 129.03 A G . 1/1 4 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None None
View mm170241ct 21 rs6517254
dbSNP
36080290 434.77 C T . 0/1 30 SYNONYMOUS_CODING LOW SILENT 0.37001 0.37000 0.46179 None None None None None None None
View mm170241ct 21 rs13049239
dbSNP
36042584 31.77 G A . 0/1 6 SYNONYMOUS_CODING LOW SILENT 0.21985 0.21980 0.14250 None None None None None None None

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 mm170241ct 21 rs2236467
dbSNP
46900410 261.77 C T . 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.15595 0.15600 0.12962 None None None None None None None
View mm170241ct 21 rs1131100
dbSNP
46899842 182.77 C T . 0/1 13 SYNONYMOUS_CODING LOW SILENT 0.16314 0.16310 0.13102 None None None None None None None
View mm170241ct 21 rs114463382
dbSNP
46876619 356.77 T C . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03315 0.03315 0.00 None None None None None None None
View mm170241ct 21 rs11702494
dbSNP
46876306 210.77 G A . 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20088 0.20090 0.25340 0.00 None None None None None None None
View mm170241ct 21 rs2236451
dbSNP
46876083 380.77 A G . 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.37560 0.37560 0.38293 None None None None None None None
View mm170241ct 21 rs914230
dbSNP
46875564 2103.77 T C . 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.98842 0.98840 0.03067 None None None None None None None
View mm170241ct 21 rs62000962
dbSNP
46910210 101.77 G A . 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11562 0.11560 0.12344 0.04 None None None None None None None
View mm170241ct 21 rs1131101
dbSNP
46899857 241.77 C T . 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.15735 0.15730 0.13061 None None None None None None None
View mm170241ct 21 rs11702425
dbSNP
46908355 1136.77 T C . 0/1 70 SYNONYMOUS_CODING LOW SILENT 0.31989 0.31990 0.31287 None None None None None None None
View mm170241ct 21 rs149296338,rs78227997
dbSNP
46924425 1379.73 CG... C . 1/1 17 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None
View mm170241ct 21 rs1131102
dbSNP
46899872 200.77 C A . 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.14038 0.14040 0.11418 None None None None None None None
View mm170241ct 21 rs1050351
dbSNP
46929467 67.77 G A . 0/1 8 SYNONYMOUS_CODING LOW SILENT 0.50359 0.50360 0.37778 None None None None None None None
View mm170241ct 21 rs17338853
dbSNP
46896381 466.77 G T . 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.02855 0.02855 0.02896 None None None None None None None

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 mm170241ct 21 rs1053315
dbSNP
47423507 984.77 G A . 1/1 32 SYNONYMOUS_CODING LOW SILENT 0.26817 0.26820 0.33726 None None None None None None None
View mm170241ct 21 rs1980982
dbSNP
47410931 1710.77 T C . 1/1 55 SYNONYMOUS_CODING LOW SILENT 0.54493 0.54490 0.37606 None None None None None None None
View mm170241ct 21 rs1053312
dbSNP
47423389 802.77 G A . 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27017 0.27020 0.33961 0.11 0.02 None None None None None None None

COL6A2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs11554669
dbSNP
47552103 582.77 G T . 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.01697 0.01697 0.02941 None None None None None None None
View mm170241ct 21 rs2839110
dbSNP
47538960 917.77 G A . 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70527 0.70530 0.27077 0.91 0.00 None None None None None None None
View mm170241ct 21 rs2839114
dbSNP
47545913 937.77 G A . 0/1 80 SYNONYMOUS_CODING LOW SILENT 0.32209 0.32210 0.29156 None None None None None None None
View mm170241ct 21 rs13046639
dbSNP
47545826 718.77 C T . 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.39397 0.39400 0.41258 None None None None None None None
View mm170241ct 21 rs13052956
dbSNP
47545823 764.77 G A . 0/1 70 SYNONYMOUS_CODING LOW SILENT 0.39417 0.39420 0.41273 None None None None None None None
View mm170241ct 21 rs1042917
dbSNP
47545768 755.77 G A . 0/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39397 0.39400 0.41296 0.10 0.99 None None None None None None None

CRYZL1

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 mm170241ct 21 rs75101644
dbSNP
35013507 521.77 C T . 0/1 42 None None None 0.03275 0.03275 0.05 0.00 None None None None None None None

CYYR1

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 mm170241ct 21 rs966410
dbSNP
27852724 4603.77 A G . 1/1 134 None None None 0.45667 0.45670 0.49116 None None None None None None None

DIP2A

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 mm170241ct 21 rs2070435
dbSNP
47961711 1329.77 G A . 0/1 82 SYNONYMOUS_CODING LOW SILENT 0.38738 0.38740 0.37032 None None None None None None None
View mm170241ct 21 rs7279002
dbSNP
47910523 633.77 A G . 0/1 55 SYNONYMOUS_CODING LOW SILENT 0.35883 0.35880 0.29676 None None None None None None None

DNAJC28

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 mm170241ct 21 rs139852262,rs3834674
dbSNP
34860749 4029.73 CA... C . 0/1 151 FRAME_SHIFT HIGH 0.15176 0.15180 0.16323 None None None None None None None

DONSON

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs61746119
dbSNP
34956929 1080.77 T C . 0/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00499 0.00499 0.00038 0.01 1.00 None None None None None None None

DOPEY2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs4817788
dbSNP
37617630 1897.77 T G . 1/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94928 0.94930 0.09949 1.00 0.00 None None None None None None None
View mm170241ct 21 rs2835322
dbSNP
37609571 1046.77 T C . 0/1 92 SYNONYMOUS_CODING LOW SILENT 0.43990 0.43990 0.47424 None None None None None None None

ETS2

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 mm170241ct 21 rs457705
dbSNP
40191431 2132.77 T G . 1/1 66 SYNONYMOUS_CODING LOW SILENT 0.58107 0.58110 0.22874 None None None None None None None
View mm170241ct 21 rs461155
dbSNP
40191638 1524.77 A G . 1/1 44 SYNONYMOUS_CODING LOW SILENT 0.58067 0.58070 0.22943 None None None None None None None

FAM207A

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 mm170241ct 21 rs3737075
dbSNP
46396659 19.81 G C LowQual 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15216 0.15220 0.17443 1.00 0.00 None None None None None None None
View mm170241ct 21 rs2294168
dbSNP
46387078 154.77 G T . 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10923 0.10920 0.11783 0.07 0.56 None None None None None None None

FAM3B

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 mm170241ct 21 rs417708
dbSNP
42717662 3330.77 T C . 1/1 113 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.91154 0.91150 0.11256 None None None None None None None

FTCD

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs12774
dbSNP
47556793 187.77 C T . 0/1 17 None None None 0.55192 0.55190 0.00 None None None None None None None
View mm170241ct 21 rs61729391
dbSNP
47571845 124.77 C T . 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.08846 0.08846 0.06663 None None None None None None None
View mm170241ct 21 rs1047179
dbSNP
47558473 142.77 G C . 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.48103 0.48100 0.47133 None None None None None None None

GART

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 mm170241ct 21 rs8971
dbSNP
34883618 798.77 T C . 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15216 0.15220 0.17361 0.27 0.30 None None None None None None None
View mm170241ct 21 rs8788
dbSNP
34897113 2755.77 C T . 1/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87420 0.87420 0.19160 1.00 0.00 None None None None None None None

GRIK1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs363430
dbSNP
30971183 2703.77 G A . 0/1 216 SYNONYMOUS_CODING LOW SILENT 0.22125 0.22120 0.15370 None None None None None None None

HMGN1

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 mm170241ct 21 rs34613278
dbSNP
40720494 357.77 C T . 0/1 26 None None None 0.05911 0.05911 0.07683 0.22 0.01 None None None None None None None

HUNK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 21 rs2070371
dbSNP
33368188 1741.77 T C . 0/1 111 SYNONYMOUS_CODING LOW SILENT 0.70308 0.70310 0.25704 None None None None None None None