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READ DEPTH:

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VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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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

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

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 31
Number of Genes: 1

Export to: CSV
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ECHDC2

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 allfamilies AWL 1 rs55836843
dbSNP Clinvar
53387215 164.21 G A PASS 0/1 56 MOTIF[MA0062.2:Gabp] MODIFIER None 0.07169 0.07169 0.05245 0.12 0.00 None None None None None None ECHDC2|0.032103864|68.56%
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 allfamilies AWL 2 rs182302523
dbSNP Clinvar
96688642 438.82 G A PASS 0/1 201 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00080 0.00080 None None None None None None GPAT2|0.051684905|62.15%
View allfamilies AWL 4 rs71606834
dbSNP Clinvar
140217010 350.68 G C PASS 0/1 142 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10583 0.10580 None None None None None None NDUFC1|0.017018884|75.84%
View allfamilies AWL 7 rs35199312
dbSNP Clinvar
45119946 278.98 T G PASS 0/1 126 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21925 0.21920 None None None None None None None
View allfamilies AWL 7 rs1008384
dbSNP Clinvar
44178626 491.038 A G PASS 0/1 226 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16494 0.16490 0.19968 None None None None None None MYL7|0.150786926|42.85%
View allfamilies AWL 8 rs2250895
dbSNP Clinvar
145692296 3045.77 A C PASS 1/1 170 MOTIF[MA0058.1:Max] MODIFIER None 0.93730 0.93730 0.00952 None None None None None None KIFC2|0.020866379|73.72%
View allfamilies AWL 10 rs1126827
dbSNP Clinvar
48438734 911.76 C T PASS 1/1 98 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.68490 0.68490 0.25000 None None None None None None GDF10|0.0826415|54.67%
View allfamilies AWL 17 rs6502330
dbSNP Clinvar
13972811 905.01 G A PASS 1/1 88 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99561 0.99560 None None None None None None None
View allfamilies AWL 18 rs1077511
dbSNP Clinvar
77748525 125.84 A C PASS 1/1 14 MOTIF[MA0162.1:Egr1] MODIFIER None 0.79812 0.79810 None None None None None None TXNL4A|0.151661677|42.73%
View allfamilies AWL 19 rs1683561
dbSNP Clinvar
862024 224.02 C G PASS 1/1 22 MOTIF[MA0139.1:CTCF] MODIFIER None 0.50459 0.50460 None None None None None None CFD|0.01627383|76.28%
View allfamilies AWL 19 rs2305763
dbSNP Clinvar
17316253 1915.87 T C PASS 0/1 136 MOTIF[MA0139.1:CTCF] MODIFIER None 0.62979 0.62980 None None None None None None MYO9B|0.037345575|66.66%
View allfamilies AWL 1 rs2251098
dbSNP Clinvar
3566706 820.13 G A PASS 1/1 47 MOTIF[MA0062.2:Gabp] MODIFIER None 0.70727 0.70730 None None None None None None WRAP73|0.036942374|66.8%
View allfamilies AWL 19 rs2301669
dbSNP Clinvar
19453560 857.026 C A PASS 0/1 17 MOTIF[MA0139.1:CTCF] MODIFIER None 0.52436 0.52440 0.42822 None None None None None None MAU2|0.230960956|33.29%
View allfamilies AWL 2 rs2286324
dbSNP Clinvar
242041728 620.04 G A PASS 0/1 167 MOTIF[MA0062.2:Gabp] MODIFIER None 0.11122 0.11120 0.07043 None None None None None None MTERF4|0.001728081|91.76%
View allfamilies AWL 3 rs76234423
dbSNP Clinvar
9969801 273.37 G A PASS 0/1 148 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11142 0.11140 0.09150 4.80 None None None None None None IL17RC|0.032341056|68.45%
View allfamilies AWL 8 rs4475500
dbSNP Clinvar
144660523 508.51 A G PASS 1/1 40 MOTIF[MA0058.1:Max] MODIFIER None 1.00000 1.00000 None None None None None None NAPRT|0.033021116|68.15%
View allfamilies AWL 11 rs575375
dbSNP Clinvar
64535357 1383.33 T C PASS 1/1 65 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96865 0.96870 0.03041 None None None None None None SF1|0.639225523|10.49%
View allfamilies AWL 11 rs117231452
dbSNP Clinvar
65625464 180.76 G A PASS 1/1 22 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.15655 0.15650 3.34 0.01 0.18682 T None None None None CFL1|0.159610156|41.62%,MUS81|0.069709404|57.54%
View allfamilies AWL 13 rs9535292
dbSNP Clinvar
50244041 1713.65 T C PASS 1/1 123 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61062 0.61060 0.37188 None None None None None None EBPL|0.026484478|71.13%
View allfamilies AWL 14 rs6109
dbSNP Clinvar
95058360 1434.58 A G PASS 0/1 132 MOTIF[MA0139.1:CTCF] MODIFIER None 0.63099 0.63100 0.22036 None None None None None None SERPINA5|0.010727799|80.35%
View allfamilies AWL 17 rs2189336
dbSNP Clinvar
5326162 1755.16 G A PASS 0/1 159 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View allfamilies AWL X rs1473666
dbSNP Clinvar
7066051 152.61 A C PASS 0/1 94 MOTIF[MA0162.1:Egr1] MODIFIER None 0.71417 0.71420 0.29206 None None None None None None HDHD1|0.006081367|84.49%
View allfamilies AWL 5 rs34647
dbSNP Clinvar
72112430 2710.23 C G PASS 1/1 239 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.84325 0.84330 None None None None None None TNPO1|0.577927625|12.67%
View allfamilies AWL 6 rs2296358
dbSNP Clinvar
7390369 934.81 T C PASS 1/1 98 MOTIF[MA0139.1:CTCF] MODIFIER None 0.87560 0.87560 None None None None None None RIOK1|0.078777032|55.49%
View allfamilies AWL 9 rs10985528
dbSNP Clinvar
100991102 387.52 A C PASS 0/1 150 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.04653 0.04653 None None None None None None TBC1D2|0.068773285|57.78%
View allfamilies AWL 11 rs2074039
dbSNP Clinvar
44092880 415.15 C T PASS 0/1 126 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09345 0.09345 0.11203 None None None None None None ACCS|0.034927707|67.49%
View allfamilies AWL 14 rs4007475
dbSNP Clinvar
35515606 1960.09 TGG T PASS 1/1 159 TRANSCRIPT MODIFIER None None None None None None None FAM177A1|0.149130642|43.12%
View allfamilies AWL 15 rs2253603
dbSNP Clinvar
40565055 1894.39 G A PASS 0/1 233 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.42673 None None None None None None PAK6|0.183662894|38.57%
View allfamilies AWL 17 rs2290769
dbSNP Clinvar
73826406 333.6 G C PASS 0/1 161 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.16414 0.16410 0.19826 None None None None None None UNC13D|0.046915794|63.63%
View allfamilies AWL 17 rs74965213
dbSNP Clinvar
76522837 464.51 A G PASS 0/1 52 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.09125 0.09125 0.12835 None None None None None None DNAH17|0.043900967|64.55%
View allfamilies AWL 20 rs2281282
dbSNP Clinvar
49575334 673.07 A C PASS 0/1 88 MOTIF[MA0062.2:Gabp] MODIFIER None 0.52796 0.52800 0.42189 None None None None None None None
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