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

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

ACOX1, FANCA,
ACOX1 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
FANCA Fanconi anemia, complementation group A, 227650 (3)

Genes at Clinical Genomics Database

ACOX1, FANCA, MT-ATP6, MT-CO1, MT-CO3, MT-ND1, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6,
ACOX1 Peroxisomal acyl-CoA oxidase deficiency
FANCA Fanconi anemia, complementation group A
MT-ATP6 Myopathy, lactic acidosis, and sideroblastic anemia 3
MT-CO1 Deafness, mitochondrial
MT-CO3 Myoglobinuria, recurrent
MT-ND1 Deafness, mitochondrial
MT-ND3 Leber optic atrophy and dystonia
Mitochondrial complex I deficiency
MT-ND4 Leber hereditary optic neuropathy
Leber optic atrophy and dystonia
Mitochondrial complex I deficiency
MT-ND4L Leber hereditary optic neuropathy
MT-ND5 Myoclonic epilepsy with ragged red fibers
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
Leber hereditary optic neuropathy
Mitochondrial complex I deficiency
MT-ND6 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
Oncocytoma
Leber hereditary optic neuropathy
Leber optic atrophy and dystonia
Mitochondrial complex I deficiency

Genes at HGMD

Summary

Number of Variants: 621
Number of Genes: 14

Export to: CSV

ACOX1

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 tz1 17 rs3744035
dbSNP Clinvar
73974946 1212.77 T C . 0/1 104 MOTIF[MA0065.2:PPARG] MODIFIER None 0.03874 0.03874 0.00 None None None None None None ACOX1|0.181440529|38.86%

BAD

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 tz1 11 rs766875705
dbSNP Clinvar
64037680 2211.77 G A . 0/1 285 MOTIF[MA0065.2:PPARG] MODIFIER None 0.00 1.05 0.02 0.36599 T None None None None BAD|0.361376571|23.36%,GPR137|0.100322562|51.1%

FANCA

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 tz1 16 rs72631431
dbSNP Clinvar
89882826 438.77 C T . 1/1 19 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.57368 0.57370 None None None None None None FANCA|0.007695026|82.85%

MT-ATP6

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 tz1 M . 9054 2901.77 G A . 1/1 112 MODIFIER None 0.59 None None None None None None None
View tz1 M . 8702 1354.77 G A . 1/1 51 MODIFIER None 0.32 0.49 None None None None None None None

MT-CO1

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 tz1 M . 6393 2846.77 T C . 1/1 107 MODIFIER None 0.00 0.99 None None None None None None None
View tz1 M . 6963 1920.77 G A . 1/1 75 MODIFIER None None None None None None None None
View tz1 M . 7392 1132.77 T C . 1/1 42 MODIFIER None 0.07 1.00 None None None None None None None

MT-CO3

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 tz1 M . 9549 4212.77 G A . 1/1 99 MODIFIER None 0.09 0.96 None None None None None None None
View tz1 M . 9378 1946.77 G A . 1/1 73 MODIFIER None None None None None None None None
View tz1 M . 9541 4184.77 C T . 1/1 98 MODIFIER None None None None None None None None

MT-CYB

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 tz1 M . 15302 3428.77 A G . 1/1 126 MODIFIER None 0.00 1.00 None None None None None None None
View tz1 M . 14906 2497.77 A G . 1/1 93 MODIFIER None 0.00 0.99 None None None None None None None

MT-ND1

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 tz1 M . 4087 1554.77 C T . 1/1 62 MODIFIER None 0.32 0.02 None None None None None None None
View tz1 M . 3737 1870.77 G A . 1/1 70 MODIFIER None 0.00 0.92 1.68 None None None None None None None
View tz1 M . 3971 2050.77 C T . 1/1 79 MODIFIER None None None None None None None None

MT-ND3

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 tz1 M . 10399 1056.77 G A . 1/1 41 MODIFIER None 0.09 0.00 None None None None None None None
View tz1 M . 10311 1285.77 G A . 1/1 50 MODIFIER None 0.95 0.12 None None None None None None None

MT-ND4

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 tz1 M . 11381 2002.77 A G . 1/1 70 MODIFIER None 0.00 1.00 -0.22 None None None None None None None
View tz1 M . 10874 1424.77 C T . 1/1 55 MODIFIER None None None None None None None None
View tz1 M . 10820 1339.77 G A . 1/1 50 MODIFIER None 0.40 0.13 None None None None None None None
View tz1 M . 11723 2241.77 C T . 1/1 89 MODIFIER None 0.02 0.99 None None None None None None None
View tz1 M . 11018 1858.77 C T . 1/1 68 MODIFIER None None None None None None None None

MT-ND4L

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 tz1 M . 10610 1436.77 T C . 1/1 56 MODIFIER None -0.67 None None None None None None None

MT-ND5

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 tz1 M . 12883 2820.77 C T . 1/1 108 MODIFIER None 0.02 0.69 None None None None None None None
View tz1 M . 13760 1934.77 G A . 1/1 76 MODIFIER None 0.01 0.05 -0.29 None None None None None None None
View tz1 M . 13929 2567.77 G C . 1/1 97 MODIFIER None -0.98 None None None None None None None
View tz1 M . 12851 2524.77 G A . 1/1 95 MODIFIER None 0.00 1.00 None None None None None None None
View tz1 M . 12706 1299.77 T C . 1/1 50 MODIFIER None 0.00 0.96 None None None None None None None
View tz1 M . 12407 1381.77 G A . 1/1 51 MODIFIER None 0.13 0.36 -0.37 None None None None None None None

MT-ND6

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 tz1 M . 14213 2186.77 C T . 1/1 81 MODIFIER None 0.00 0.95 None None None None None None None
View tz1 M . 14581 1477.77 G A . 1/1 56 MODIFIER None None None None None None None None

TBC1D3G

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 tz1 17 rs746681768
dbSNP Clinvar
34797666 62.77 G A . 0/1 173 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None TBC1D3H|0.001438095|93.12%,TBC1D3G|0.001322308|93.75%
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 tz1 3 rs12495847
dbSNP Clinvar
134090505 85.03 A G . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.57987 0.57990 None None None None None None AMOTL2|0.079628393|55.26%
View tz1 3 rs12633268
dbSNP Clinvar
193429351 57.28 A C . 1/1 3 MOTIF[MA0065.1:PPARG] MODIFIER None 0.30551 0.30550 None None None None None None None
View tz1 4 rs3806754
dbSNP Clinvar
1350186 41.77 A G . 0/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.23822 0.23820 None None None None None None UVSSA|0.009357556|81.41%
View tz1 4 rs4974623
dbSNP Clinvar
1404415 454.77 A G . 1/1 12 MOTIF[MA0162.1:Egr1] MODIFIER None 0.47943 0.47940 None None None None None None None
View tz1 4 rs905890777
dbSNP Clinvar
93521996 52.77 A C . 0/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None GRID2|0.889185776|3.69%
View tz1 4 rs62322293
dbSNP Clinvar
120330655 975.77 T G . 0/1 103 MOTIF[MA0139.1:CTCF] MODIFIER None 0.50639 0.50640 None None None None None None None
View tz1 4 rs923444
dbSNP Clinvar
143357111 71.03 A G . 1/1 4 MOTIF[MA0079.2:SP1] MODIFIER None 0.93990 0.93990 None None None None None None INPP4B|0.434163387|18.99%
View tz1 5 rs4957430
dbSNP Clinvar
41843797 2657.77 C T . 1/1 101 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21605 0.21610 None None None None None None OXCT1|0.313202771|26.58%
View tz1 5 rs34647
dbSNP Clinvar
72112430 2084.77 C G . 0/1 90 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.84325 0.84330 None None None None None None TNPO1|0.577927625|12.67%
View tz1 5 rs2546473
dbSNP Clinvar
114961656 81.77 T C . 0/1 9 MOTIF[MA0062.1:Gabp] MODIFIER None 0.11242 0.11240 None None None None None None TMED7-TICAM2|0.2791835|29.17%,TICAM2|0.025604369|71.5%,TMED7|0.344773485|24.52%
View tz1 5 rs4565199
dbSNP Clinvar
149737221 987.77 T G . 1/1 33 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99940 0.99940 None None None None None None TCOF1|0.029215491|69.76%
View tz1 5 rs10064888
dbSNP Clinvar
173146887 60.28 T C . 1/1 3 MOTIF[MA0047.1:FOXA2] MODIFIER None 0.73802 0.73800 None None None None None None None
View tz1 5 rs117265358
dbSNP Clinvar
177591381 71.03 A C . 1/1 4 MOTIF[MA0014.1:Pax5] MODIFIER None 0.05252 0.05252 None None None None None None None
View tz1 6 rs2296358
dbSNP Clinvar
7390369 6465.77 T C . 1/1 249 MOTIF[MA0139.1:CTCF] MODIFIER None 0.87560 0.87560 None None None None None None RIOK1|0.078777032|55.49%
View tz1 6 rs62390377
dbSNP Clinvar
29895039 2332.77 A C . 0/1 248 MOTIF[MA0095.1:Yy1] MODIFIER None 0.11981 0.11980 None None None None None None None
View tz1 6 rs113453333
dbSNP Clinvar
32522490 4340.77 G A . 0/1 225 MOTIF[MA0014.1:Pax5] MODIFIER None 0.28914 0.28910 None None None None None None None
View tz1 6 rs111715782
dbSNP Clinvar
32522494 2711.77 C T . 0/1 223 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None None
View tz1 6 rs34606334
dbSNP Clinvar
33037294 482.77 T C . 0/1 28 MOTIF[MA0139.1:CTCF] MODIFIER None 0.43111 0.43110 None None None None None None HLA-DPA1|0.007131154|83.36%
View tz1 6 rs34682523
dbSNP Clinvar
33037304 485.77 G T . 0/1 27 MOTIF[MA0139.1:CTCF] MODIFIER None 0.43950 0.43950 None None None None None None HLA-DPA1|0.007131154|83.36%
View tz1 6 rs3816778
dbSNP Clinvar
151773353 305.77 G C . 1/1 13 MOTIF[MA0058.1:Max] MODIFIER None 0.51937 0.51940 None None None None None None None
View tz1 6 rs3757318
dbSNP Clinvar
151914113 216.77 G A . 0/1 47 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.09006 0.09006 None None None None None None CCDC170|0.073258235|56.72%
View tz1 6 rs2749664
dbSNP Clinvar
157802047 356.77 C G . 1/1 15 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.84205 0.84210 None None None None None None None
View tz1 6 rs1247554
dbSNP Clinvar
161188613 47.74 T C . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.82907 0.82910 None None None None None None None
View tz1 6 rs6919206
dbSNP Clinvar
166191377 71.03 C T . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.72824 0.72820 None None None None None None PDE10A|0.09491062|52.15%
View tz1 6 rs111878681
dbSNP Clinvar
166809902 86.22 G T . 0/1 7 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View tz1 7 rs73108379
dbSNP Clinvar
33925899 52.77 A T . 0/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19629 0.19630 None None None None None None None
View tz1 7 rs80040741
dbSNP Clinvar
100608929 1449.77 G T . 0/1 75 MOTIF[MA0079.2:SP1] MODIFIER None 0.00040 0.00040 None None None None None None MUC3A|0.001683398|91.94%
View tz1 7 rs75438491
dbSNP Clinvar
100609175 196.9 T C . 1/1 5 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None MUC3A|0.001683398|91.94%
View tz1 7 rs3735173
dbSNP Clinvar
150020526 203.77 C T . 0/1 34 MOTIF[MA0139.1:CTCF] MODIFIER None 0.32748 0.32750 None None None None None None ACTR3C|0.005900668|84.7%,LRRC61|0.022118125|73.11%
View tz1 7 rs7811467
dbSNP Clinvar
158947092 152.03 T C . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.51917 0.51920 None None None None None None None
View tz1 7 rs7811473
dbSNP Clinvar
158947104 152.03 T C . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.51957 0.51960 None None None None None None None
View tz1 8 rs3802285
dbSNP Clinvar
62491943 7130.77 G A . 1/1 265 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81889 0.81890 None None None None None None ASPH|0.124407055|46.75%
View tz1 8 rs4645544
dbSNP Clinvar
144089840 111.03 T G . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.32448 0.32450 None None None None None None None
View tz1 9 rs1322045
dbSNP Clinvar
35754500 169.78 G A . 1/1 8 MOTIF[MA0139.1:CTCF] MODIFIER None 0.65336 0.65340 None None None None None None RGP1|0.260192873|30.72%,MSMP|0.218073882|34.6%
View tz1 9 rs80121211
dbSNP Clinvar
44118806 242.77 A G . 0/1 11 MOTIF[MA0062.2:Gabp] MODIFIER None 0.69509 0.69510 None None None None None None None
View tz1 9 rs369889559
dbSNP Clinvar
44118807 242.77 C A . 0/1 11 MOTIF[MA0062.2:Gabp] MODIFIER None 0.69509 0.69510 None None None None None None None
View tz1 9 rs796928871
dbSNP Clinvar
69065259 195.9 A G . 1/1 5 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View tz1 9 rs1110840
dbSNP Clinvar
74384641 107.9 G C . 1/1 5 MOTIF[MA0147.1:Cmyc] MODIFIER None 0.99980 0.99980 None None None None None None TMEM2|0.195352214|37.22%
View tz1 9 rs36007201
dbSNP Clinvar
128170423 84.77 G C . 0/1 7 MOTIF[MA0139.1:CTCF] MODIFIER None 0.14197 0.14200 None None None None None None None
View tz1 9 rs567833
dbSNP Clinvar
135450615 179.8 T C . 1/1 7 MOTIF[MA0139.1:CTCF] MODIFIER None 0.98403 0.98400 None None None None None None None
View tz1 9 rs4842194
dbSNP Clinvar
137330560 57.28 C T . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.49760 0.49760 None None None None None None RXRA|0.730901925|7.63%
View tz1 9 rs10781504
dbSNP Clinvar
139462622 204.78 C T . 1/1 9 MOTIF[MA0147.1:Cmyc] MODIFIER None 0.87879 0.87880 None None None None None None None
View tz1 10 rs703093
dbSNP Clinvar
21147418 43.74 G A . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.24900 0.24900 None None None None None None NEBL|0.384110937|21.79%
View tz1 10 rs6479942
dbSNP Clinvar
65647152 71.03 C G . 1/1 4 MOTIF[MA0062.2:Gabp] MODIFIER None 0.96526 0.96530 None None None None None None None
View tz1 10 rs10998885
dbSNP Clinvar
71389942 40.77 C T . 0/1 10 MOTIF[MA0139.1:CTCF] MODIFIER None 0.20128 0.20130 None None None None None None None
View tz1 10 rs117659598
dbSNP Clinvar
88104588 59.28 G C . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.01278 0.01278 None None None None None None GRID1|0.568665369|13.06%
View tz1 10 rs4350282
dbSNP Clinvar
129867815 114.03 T C . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 1.00000 1.00000 None None None None None None PTPRE|0.026019241|71.31%
View tz1 11 rs190090183
dbSNP Clinvar
722052 1797.77 G A . 0/1 197 MOTIF[MA0079.2:SP1] MODIFIER None 0.00739 0.00739 0.00015 None None None None None None EPS8L2|0.009899843|80.93%
View tz1 11 rs4078520
dbSNP Clinvar
723429 1450.77 C T . 0/1 126 MOTIF[MA0139.1:CTCF] MODIFIER None 0.34165 0.34170 None None None None None None EPS8L2|0.009899843|80.93%
View tz1 11 rs231912
dbSNP Clinvar
2750473 70.03 A G . 1/1 4 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.67053 0.67050 None None None None None None KCNQ1|0.362119637|23.28%
View tz1 11 rs535014
dbSNP Clinvar
58618099 1061.77 C T . 1/1 40 MOTIF[MA0139.1:CTCF] MODIFIER None 0.84026 0.84030 None None None None None None GLYATL2|0.000328807|99.31%
View tz1 11 rs530673733
dbSNP Clinvar
67056747 187.87 AG... A . 1/1 5 TRANSCRIPT MODIFIER None 0.00479 0.00479 None None None None None None ANKRD13D|0.070594446|57.34%
View tz1 11 rs10898255
dbSNP Clinvar
71246068 107.28 C G . 1/1 3 MOTIF[MA0065.2:PPARG] MODIFIER None 0.33586 0.33590 None None None None None None None
View tz1 11 rs111377817
dbSNP Clinvar
71511577 84.77 C A . 0/1 8 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05252 0.05252 None None None None None None FAM86C1|0.002026956|90.92%
View tz1 11 rs7121024
dbSNP Clinvar
122376641 109.9 G C . 1/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.99900 0.99900 None None None None None None None
View tz1 11 rs2853117
dbSNP Clinvar
133705266 71.03 T G . 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.36282 0.36280 None None None None None None None
View tz1 12 rs11571379
dbSNP Clinvar
1059143 216.78 G A . 1/1 8 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45228 0.45230 None None None None None None RAD52|0.088397129|53.56%
View tz1 12 rs10783232
dbSNP Clinvar
48583491 54.28 A G . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61142 0.61140 None None None None None None None
View tz1 12 rs1896559
dbSNP Clinvar
106599327 55.28 G A . 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.85044 0.85040 None None None None None None None
View tz1 12 rs1344438
dbSNP Clinvar
111735954 108.9 C G . 1/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61002 0.61000 None None None None None None CUX2|0.397294948|20.94%
View tz1 12 rs113609464
dbSNP Clinvar
125670964 2388.77 A C . 1/1 54 MOTIF[MA0139.1:CTCF] MODIFIER None 1.00000 1.00000 None None None None None None None
View tz1 12 rs111723308
dbSNP Clinvar
125670970 2422.77 A C . 1/1 58 MOTIF[MA0139.1:CTCF] MODIFIER None 1.00000 1.00000 None None None None None None None
View tz1 12 rs60360029
dbSNP Clinvar
132999036 62.74 C T . 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.22185 0.22180 None None None None None None None
View tz1 12 rs12319958
dbSNP Clinvar
133046239 95.28 C A . 1/1 3 MOTIF[MA0154.1:EBF] MODIFIER None 0.77236 0.77240 None None None None None None None
View tz1 13 rs510183
dbSNP Clinvar
23733829 108.9 C G . 1/1 5 MOTIF[MA0162.1:Egr1] MODIFIER None 0.99661 0.99660 None None None None None None None
View tz1 13 rs9535292
dbSNP Clinvar
50244041 1977.77 T C . 1/1 77 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61062 0.61060 0.37188 None None None None None None EBPL|0.026484478|71.13%
View tz1 13 rs9524896
dbSNP Clinvar
95953292 240.77 G A . 0/1 15 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.50020 0.50020 None None None None None None ABCC4|0.142494523|44.07%