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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

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CADD

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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

DEPDC5, FANCA,
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
FANCA Fanconi anemia, complementation group A, 227650 (3)

Genes at Clinical Genomics Database

DEPDC5, FANCA,
DEPDC5 Epilepsy, familial focal, with variable foci
FANCA Fanconi anemia, complementation group A

Genes at HGMD

Summary

Number of Variants: 85
Number of Genes: 3

Export to: CSV
  • Page 1 of 1

DEPDC5

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 62393865_s40 mvar 62393865_S40.SAMTOOLS 22 rs5749334
dbSNP Clinvar
32211412 164.77 A C PASS 0/1 24 MOTIF[MA0065.2:PPARG] MODIFIER None 0.66594 0.66590 0.38232 None None None None None None DEPDC5|0.189227738|37.92%

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 62393865_s40 mvar 62393865_S40.SAMTOOLS 16 rs72631431
dbSNP Clinvar
89882826 428.77 C T PASS 1/1 8 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.57368 0.57370 None None None None None None FANCA|0.007695026|82.85%

IGFBP2

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 62393865_s40 mvar 62393865_S40.SAMTOOLS 2 rs9341207
dbSNP Clinvar
217526553 382.77 G A PASS 0/1 25 MOTIF[MA0139.1:CTCF] MODIFIER None 0.01897 0.01897 0.02043 0.00 None None None None None None IGFBP2|0.222468361|34.13%
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 62393865_s40 mvar 62393865_S40.SAMTOOLS 3 rs7640969
dbSNP Clinvar
45718327 3532.77 T G PASS 1/1 88 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00040 0.00040 None None None None None None LIMD1|0.021021846|73.66%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 7 rs1882655
dbSNP Clinvar
66147057 4181.77 T C PASS 1/1 119 MOTIF[MA0062.2:Gabp] MODIFIER None 0.86681 0.86680 None None None None None None KCTD7|0.214101234|35.12%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 7 rs11768828
dbSNP Clinvar
102810717 3383.46 A G PASS 1/1 136 MOTIF[MA0139.1:CTCF] MODIFIER None 0.75639 0.75640 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 5 rs2270819
dbSNP Clinvar
157158414 1797.77 C A PASS 0/1 112 MOTIF[MA0079.2:SP1] MODIFIER None 0.12440 0.12440 0.11487 None None None None None None THG1L|0.214788912|35.03%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 5 rs6556037
dbSNP Clinvar
172097353 1097.77 C T PASS 0/1 100 MOTIF[MA0139.1:CTCF] MODIFIER None 0.27256 0.27260 None None None None None None NEURL1B|0.153686814|42.45%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 9 rs1572344
dbSNP Clinvar
133948375 967.77 T C PASS 0/1 57 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81550 0.81550 None None None None None None LAMC3|0.028908459|69.93%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 12 rs73107993
dbSNP Clinvar
48195873 704.77 C T PASS 0/1 28 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09125 0.09125 None None None None None None HDAC7|0.157662345|41.92%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 12 rs1379610
dbSNP Clinvar
53681683 471.77 A G PASS 0/1 29 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11222 0.11220 None None None None None None ESPL1|0.25246921|31.33%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 13 rs9535292
dbSNP Clinvar
50244041 537.77 T C PASS 0/1 33 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61062 0.61060 0.37188 None None None None None None EBPL|0.026484478|71.13%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 16 rs28418438
dbSNP Clinvar
15068908 1554.77 C G PASS 0/1 78 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.42931 0.42930 None None None None None None PDXDC1|0.09983334|51.21%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 17 rs820387
dbSNP Clinvar
73746146 6641.77 T C PASS 1/1 177 MOTIF[MA0139.1:CTCF] MODIFIER None 0.74062 0.74060 0.21313 None None None None None None ITGB4|0.346553835|24.38%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS X rs1473666
dbSNP Clinvar
7066051 1530.77 A C PASS 1/1 37 MOTIF[MA0162.1:Egr1] MODIFIER None 0.71417 0.71420 0.29206 None None None None None None HDHD1|0.006081367|84.49%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 20 rs6086563
dbSNP Clinvar
8703145 1037.77 C G PASS 1/1 25 MOTIF[MA0139.1:CTCF] MODIFIER None 0.66214 0.66210 None None None None None None PLCB1|0.832831133|5.05%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 1 rs12131289
dbSNP Clinvar
156446450 734.77 C T PASS 0/1 33 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.57149 0.57150 None None None None None None MEF2D|0.599412285|11.77%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 22 rs3747091
dbSNP Clinvar
21983766 3145.77 G A PASS 0/1 200 MOTIF[MA0080.1:PU1] MODIFIER None 0.05591 0.05591 None None None None None None YDJC|0.029947421|69.43%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 1 rs2227312
dbSNP Clinvar
2487663 7192.77 C A PASS 1/1 183 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.59924 0.59920 None None None None None None TNFRSF14|0.0013116|93.81%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 1 rs12759775
dbSNP Clinvar
3713077 63.77 G T PASS 0/1 9 MOTIF[MA0062.2:Gabp] MODIFIER None 0.04353 0.04353 0.05045 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 1 rs2027222
dbSNP Clinvar
9084924 691.77 T C PASS 0/1 54 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81709 0.81710 None None None None None None SLC2A7|0.007683394|82.87%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 1 rs16834931
dbSNP Clinvar
32689521 842.77 A G PASS 0/1 69 MOTIF[MA0139.1:CTCF] MODIFIER None 0.22744 0.22740 None None None None None None EIF3I|0.594313487|11.97%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 1 rs56375229
dbSNP Clinvar
120612154 2184.77 C G PASS 0/1 304 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None NOTCH2|0.911167567|3.21%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 1 rs55899574
dbSNP Clinvar
120612163 2159.77 C A PASS 0/1 320 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None NOTCH2|0.911167567|3.21%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 1 rs79328769
dbSNP Clinvar
149379694 939.77 C T PASS 1/1 30 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19908 0.19910 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 3 rs115586700
dbSNP Clinvar
15643158 7733.77 A C PASS 1/1 199 MOTIF[MA0047.2:FOXA2] MODIFIER None 0.01298 0.01298 None None None None None None HACL1|0.127678735|46.24%,BTD|0.016571109|76.15%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 8 rs1987433
dbSNP Clinvar
7916609 424.56 C A PASS 1/1 26 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 10 rs2244396
dbSNP Clinvar
43932479 2414.77 A G PASS 1/1 67 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99601 0.99600 None None None None None None ZNF487|0.002066386|90.81%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 10 rs34058224
dbSNP Clinvar
47667508 707.77 C A PASS 0/1 31 MOTIF[MA0139.1:CTCF] MODIFIER None 0.23243 0.23240 None None None None None None ANTXRL|0.000107209|99.93%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 10 rs1126827
dbSNP Clinvar
48438734 1450.77 C T PASS 1/1 39 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.68490 0.68490 0.25000 None None None None None None GDF10|0.0826415|54.67%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 10 rs2784774
dbSNP Clinvar
81921553 671.77 T C PASS 1/1 19 MOTIF[MA0139.1:CTCF] MODIFIER None 0.94968 0.94970 None None None None None None ANXA11|0.080075284|55.15%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 11 rs4078520
dbSNP Clinvar
723429 665.77 C T PASS 1/1 17 MOTIF[MA0139.1:CTCF] MODIFIER None 0.34165 0.34170 None None None None None None EPS8L2|0.009899843|80.93%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 11 rs575375
dbSNP Clinvar
64535357 3612.77 T C PASS 1/1 94 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96865 0.96870 0.03041 None None None None None None SF1|0.639225523|10.49%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 8 rs2250895
dbSNP Clinvar
145692296 3528.77 A C PASS 1/1 94 MOTIF[MA0058.1:Max] MODIFIER None 0.93730 0.93730 0.00952 None None None None None None KIFC2|0.020866379|73.72%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 1 rs977946790
dbSNP Clinvar
1886511 66.17 C A PASS 0/1 23 MOTIF[MA0062.1:Gabp] MODIFIER None None None None None None None CFAP74|0.001720148|91.8%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 13 rs9553420
dbSNP Clinvar
25268417 377.77 G A PASS 0/1 20 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29872 0.29870 None None None None None None ATP12A|0.195110246|37.26%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 14 . 35515606 1351.73 TGGG TG PASS 1/1 22 TRANSCRIPT MODIFIER None None None None None None None FAM177A1|0.149130642|43.12%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 14 rs11849590
dbSNP Clinvar
76045245 1022.77 C T PASS 0/1 66 MOTIF[MA0139.1:CTCF] MODIFIER None 0.13758 0.13760 None None None None None None FLVCR2|0.124944666|46.63%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 14 rs56103835
dbSNP Clinvar
101522556 1663.77 T C PASS 0/1 117 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29792 0.29790 0.15757 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 15 rs2253603
dbSNP Clinvar
40565055 7310.77 G A PASS 1/1 189 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.42673 None None None None None None PAK6|0.183662894|38.57%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 17 rs79923367
dbSNP Clinvar
1388656 236.96 G T PASS 0/1 13 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.00280 None None None None None None MYO1C|0.50378708|15.67%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 17 rs6502330
dbSNP Clinvar
13972811 403.77 G A PASS 1/1 9 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99561 0.99560 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 17 . 36908985 721.73 TG... TGA PASS 0/1 45 TRANSCRIPT MODIFIER None None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 22 rs56308900
dbSNP Clinvar
43088668 1241.77 G A PASS 0/1 86 MOTIF[MA0139.1:CTCF] MODIFIER None 0.02895 0.02895 None None None None None None A4GALT|0.02220674|73.08%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS X rs62599865
dbSNP Clinvar
134155904 2161.77 G T PASS 1/1 60 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28027 0.28030 None None None None None None FAM127C|0.009218146|81.5%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 19 rs339396
dbSNP Clinvar
6733545 895.77 G C PASS 0/1 61 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09345 0.09345 0.09898 None None None None None None GPR108|0.020004906|74.19%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 19 rs12975442
dbSNP Clinvar
7917919 2222.77 C T PASS 1/1 49 MOTIF[MA0139.1:CTCF] MODIFIER None 0.42931 0.42930 None None None None None None EVI5L|0.086789363|53.81%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 19 rs2305763
dbSNP Clinvar
17316253 4897.77 T C PASS 1/1 121 MOTIF[MA0139.1:CTCF] MODIFIER None 0.62979 0.62980 None None None None None None MYO9B|0.037345575|66.66%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 19 rs2301669
dbSNP Clinvar
19453560 2433.77 C A PASS 0/1 150 MOTIF[MA0139.1:CTCF] MODIFIER None 0.52436 0.52440 0.42822 None None None None None None MAU2|0.230960956|33.29%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 19 rs338584
dbSNP Clinvar
41712113 442.77 C G PASS 0/1 24 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28215 0.28210 None None None None None None CYP2S1|0.00746674|83.09%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 12 rs34187551
dbSNP Clinvar
104235229 846.77 C G PASS 0/1 63 MOTIF[MA0162.1:Egr1] MODIFIER None 0.37620 0.37620 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 1 rs2748975
dbSNP Clinvar
1886519 67.01 C A PASS 0/1 13 MOTIF[MA0062.2:Gabp] MODIFIER None 0.60743 0.60740 None None None None None None CFAP74|0.001720148|91.8%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 2 rs2243805
dbSNP Clinvar
128407499 1099.77 G A PASS 0/1 63 MOTIF[MA0139.1:CTCF] MODIFIER None 0.54293 0.54290 None None None None None None LIMS2|0.178462666|39.21%,GPR17|0.126816892|46.37%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 8 rs4841558
dbSNP Clinvar
11415597 1325.77 C T PASS 0/1 89 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.38867 None None None None None None BLK|0.095762795|51.98%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 8 rs1042701
dbSNP Clinvar
11422045 1924.77 G A PASS 0/1 129 MOTIF[MA0139.1:CTCF] MODIFIER None 0.24002 0.24000 None None None None None None BLK|0.095762795|51.98%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 8 rs11784716
dbSNP Clinvar
11872723 601.77 A G PASS 1/1 14 MOTIF[MA0139.1:CTCF] MODIFIER None 0.99701 0.99700 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 8 rs56279307
dbSNP Clinvar
11872732 826.77 G C PASS 1/1 19 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00260 0.33510 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 8 rs55907235
dbSNP Clinvar
11872734 826.77 C T PASS 1/1 19 MOTIF[MA0139.1:CTCF] MODIFIER None 0.33566 0.33570 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 8 rs2002368
dbSNP Clinvar
12517027 705.77 C G PASS 1/1 17 MOTIF[MA0139.1:CTCF] MODIFIER None 0.36681 0.36680 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 8 rs3802285
dbSNP Clinvar
62491943 2631.77 G A PASS 1/1 77 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81889 0.81890 None None None None None None ASPH|0.124407055|46.75%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 5 rs34647
dbSNP Clinvar
72112430 2026.77 C G PASS 1/1 50 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.84325 0.84330 None None None None None None TNPO1|0.577927625|12.67%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 6 rs2296358
dbSNP Clinvar
7390369 4663.77 T C PASS 1/1 124 MOTIF[MA0139.1:CTCF] MODIFIER None 0.87560 0.87560 None None None None None None RIOK1|0.078777032|55.49%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 10 rs111313275
dbSNP Clinvar
71168645 282.21 C T PASS 1/1 12 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None TACR2|0.074747696|56.35%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 10 rs113690919
dbSNP Clinvar
71168653 411.35 T G,A PASS 1/1 15 MOTIF[MA0139.1:CTCF] MODIFIER None 0.57488 0.57490 None None None None None None TACR2|0.074747696|56.35%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 11 rs71487219
dbSNP Clinvar
207400 765.77 A G PASS 1/1 21 MOTIF[MA0062.2:Gabp] MODIFIER None 0.59265 0.59270 None None None None None None BET1L|0.043373074|64.7%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 11 rs12793946
dbSNP Clinvar
13031846 6499.77 G A PASS 1/1 171 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05072 0.05072 0.08486 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 11 rs11217125
dbSNP Clinvar
118889185 894.77 T C PASS 1/1 24 MOTIF[MA0062.1:Gabp] MODIFIER None 0.27077 0.27080 None None None None None None RPS25|0.414981471|19.87%,TRAPPC4|0.703226976|8.41%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 11 rs2298724
dbSNP Clinvar
120823721 344.77 A G PASS 0/1 22 MOTIF[MA0139.1:CTCF] MODIFIER None 0.26558 0.26560 0.25984 None None None None None None GRIK4|0.59773792|11.84%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 12 rs1244063
dbSNP Clinvar
124832606 2412.77 A G PASS 1/1 66 MOTIF[MA0139.1:CTCF] MODIFIER None 0.76578 0.76580 None None None None None None NCOR2|0.460506037|17.66%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 12 rs10751704
dbSNP Clinvar
132335963 421.77 T G PASS 1/1 9 MOTIF[MA0139.1:CTCF] MODIFIER None 0.48802 0.48800 None None None None None None MMP17|0.027229516|70.78%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 13 rs9517155
dbSNP Clinvar
98629334 385.77 G C PASS 0/1 22 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.63858 0.63860 None None None None None None IPO5|0.498949955|15.88%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 14 rs7146599
dbSNP Clinvar
24527672 188.79 G A PASS 1/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28335 0.28330 None None None None None None LRRC16B|0.163892643|41.04%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 16 rs373197952
dbSNP Clinvar
20565003 1212.77 A G PASS 0/1 80 MOTIF[MA0139.1:CTCF] MODIFIER None 0.01138 0.01138 None None None None None None ACSM2B|0.005001118|85.81%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 16 rs9929288
dbSNP Clinvar
57724078 743.77 C T PASS 0/1 50 MOTIF[MA0140.1:Tal1] MODIFIER None 0.23902 0.23900 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 16 rs7206590
dbSNP Clinvar
85120500 1795.77 C T PASS 1/1 35 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29293 0.29290 None None None None None None KIAA0513|0.076353431|56.01%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 16 rs2291963
dbSNP Clinvar
85120510 1523.77 A G PASS 1/1 34 MOTIF[MA0139.1:CTCF] MODIFIER None 0.36582 0.36580 None None None None None None KIAA0513|0.076353431|56.01%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 16 rs12931876
dbSNP Clinvar
87874182 538.77 T C PASS 0/1 31 MOTIF[MA0139.1:CTCF] MODIFIER None 0.24201 0.24200 None None None None None None SLC7A5|0.094869709|52.16%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 17 rs2189336
dbSNP Clinvar
5326162 1868.77 G A PASS 1/1 38 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 17 rs2286519
dbSNP Clinvar
26881730 546.77 G A PASS 0/1 31 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21346 0.21350 None None None None None None PIGS|0.21644599|34.82%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 17 rs753534567
dbSNP Clinvar
73887968 2268.77 C A PASS 0/1 157 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None TRIM65|0.006400344|84.17%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 17 rs2665961
dbSNP Clinvar
74023107 350.77 A G PASS 0/1 15 MOTIF[MA0139.1:CTCF] MODIFIER None 0.50839 0.50840 None None None None None None EVPL|0.131929334|45.62%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 19 rs10432306
dbSNP Clinvar
5892743 1795.77 C T PASS 0/1 110 MOTIF[MA0139.1:CTCF] MODIFIER None 0.41274 0.41270 None None None None None None FUT5|0.001156471|94.68%,NDUFA11|0.003107133|88.49%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 19 rs1631032
dbSNP Clinvar
5892770 4335.77 C T PASS 1/1 114 MOTIF[MA0139.1:CTCF] MODIFIER None 0.58586 0.58590 None None None None None None FUT5|0.001156471|94.68%,NDUFA11|0.003107133|88.49%
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 20 rs6089695
dbSNP Clinvar
60808026 1593.77 C T PASS 1/1 42 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38538 0.38540 None None None None None None None
View 62393865_s40 mvar 62393865_S40.SAMTOOLS 22 rs147790737
dbSNP Clinvar
29965338 882.77 G T PASS 0/1 93 MOTIF[MA0159.1:RXR] MODIFIER None 0.01038 0.01038 None None None None None None NIPSNAP1|0.114885199|48.34%
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