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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
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
OPEN RESULT IN A NEW WINDOW
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Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 137
Number of Genes: 9

Export to: CSV

CIRBP

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 ldp546 19 rs12609287
dbSNP Clinvar
1271274 790.96 C T . 1/1 43 None None None 0.76817 0.76820 0.28710 0.17 0.36 None None None None None None CIRBP|0.027587711|70.62%
View ldp546 19 rs12488
dbSNP Clinvar
1272040 359.17 T C . 1/1 33 SYNONYMOUS_CODING LOW None 0.80092 0.80090 0.25796 None None None None None None CIRBP|0.027587711|70.62%
View ldp546 19 rs4807050
dbSNP Clinvar
1271529 462.29 C T . 1/1 33 None None None 0.77875 0.77880 0.28127 0.01 0.00 None None None None None None CIRBP|0.027587711|70.62%

HNRNPM

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 ldp546 19 rs2230647
dbSNP Clinvar
8551094 287.8 T C . 1/1 23 SYNONYMOUS_CODING LOW None 0.86761 0.86760 0.14518 None None None None None None HNRNPM|0.597506076|11.86%
View ldp546 19 rs6992
dbSNP Clinvar
8553630 158.74 C T . 0/1 37 SYNONYMOUS_CODING LOW None 0.87600 0.87600 0.13486 None None None None None None HNRNPM|0.597506076|11.86%

HNRNPUL1

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 ldp546 19 rs12745
dbSNP Clinvar
41811730 74.6 T C . 1/1 7 SYNONYMOUS_CODING LOW None 0.99301 0.99300 0.00908 None None None None None None HNRNPUL1|0.442835008|18.52%,TGFB1|0.999969362|0.12%

ILF3

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 ldp546 19 rs2229383
dbSNP Clinvar
10794630 457.71 G T . 0/1 57 SYNONYMOUS_CODING LOW None 0.66374 0.66370 0.34030 None None None None None None ILF3|0.393061423|21.21%

LAIR1

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 ldp546 19 rs7257187
dbSNP Clinvar
54867572 197.11 C T . 0/1 26 SYNONYMOUS_CODING LOW None 0.23403 0.23400 0.27726 None None None None None None LAIR1|0.000351242|99.22%

PTBP1

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 ldp546 19 rs351980
dbSNP Clinvar
804456 73.72 G A . 1/1 9 None None None 0.21246 0.21250 0.16656 None None None None None None None
View ldp546 19 rs351981
dbSNP Clinvar
804079 467.55 T C . 1/1 28 SYNONYMOUS_CODING LOW None 0.13179 0.13180 0.14447 None None None None None None None

SAFB

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 ldp546 19 rs1129046
dbSNP Clinvar
5654449 573.37 G A . 0/1 52 SYNONYMOUS_CODING LOW None 0.05831 0.05831 0.06266 None None None None None None SAFB|0.179670583|39.08%

U2AF2

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 ldp546 19 rs617073
dbSNP Clinvar
56180968 397.92 C T . 1/1 37 SYNONYMOUS_CODING LOW None 0.77736 0.77740 0.16915 None None None None None None U2AF2|0.172419604|40.03%

UNC13A

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 ldp546 19 rs10413821
dbSNP Clinvar
17741047 182.44 A G . 0/1 36 SYNONYMOUS_CODING LOW None 0.48003 0.48000 0.48632 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs4239634
dbSNP Clinvar
17746947 501.93 A G . 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 1.00 0.00 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs34752754
dbSNP Clinvar
17766900 141.15 C T . 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.24281 0.24280 0.33949 0.49 0.00 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs61753902
dbSNP Clinvar
17740115 41.41 G A . 0/1 18 SYNONYMOUS_CODING LOW None 0.01917 0.01917 0.04698 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs9305092
dbSNP Clinvar
17777508 894.97 C G . 1/1 40 SYNONYMOUS_CODING LOW None 0.00040 0.75200 0.13443 None None None None None None UNC13A|0.069265201|57.67%
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 ldp546 19 rs117280884
dbSNP Clinvar
5594203 111.15 T C . 1/1 5 None None None 0.00899 0.00899 0.01223 None None None None None None SAFB2|0.023373712|72.49%
View ldp546 19 rs11443404,rs398040855
dbSNP Clinvar
5622905 158.1 G GC . 1/1 16 None None None 0.48922 0.48920 None None None None None None SAFB2|0.023373712|72.49%
View ldp546 19 rs16993079
dbSNP Clinvar
5647970 220.3 A G . 0/1 13 None None None 0.05831 0.05831 0.05738 None None None None None None SAFB|0.179670583|39.08%
View ldp546 19 rs11465421
dbSNP Clinvar
7805296 41.02 G T . 1/1 3 None None None 0.47484 0.47480 None None None None None None CD209|0.001091025|94.97%
View ldp546 19 rs1544766
dbSNP Clinvar
7806723 110.27 G A . 1/1 5 None None None 0.85803 0.85800 None None None None None None CD209|0.001091025|94.97%
View ldp546 19 rs7248637
dbSNP Clinvar
7807027 40.14 A G . 1/1 6 None None None 0.76757 0.76760 None None None None None None CD209|0.001091025|94.97%
View ldp546 19 rs12459188
dbSNP Clinvar
7879018 41.02 A G . 1/1 4 None None None 0.69349 0.69350 None None None None None None None
View ldp546 19 rs12984528
dbSNP Clinvar
7879326 39.26 G A . 1/1 8 None None None 0.56989 0.56990 None None None None None None None
View ldp546 19 rs62124537
dbSNP Clinvar
8258179 108.52 A G . 1/1 8 None None None 0.12380 0.12380 None None None None None None None
View ldp546 19 rs3764570
dbSNP Clinvar
8528277 127.84 A G . 0/1 8 None None None 0.24341 0.24340 None None None None None None HNRNPM|0.597506076|11.86%
View ldp546 19 rs8102587
dbSNP Clinvar
8528310 359.17 A G . 1/1 13 None None None 0.86861 0.86860 0.13798 None None None None None None HNRNPM|0.597506076|11.86%
View ldp546 19 rs12462136
dbSNP Clinvar
8532701 40.14 C T . 1/1 2 None None None 0.33866 0.33870 None None None None None None HNRNPM|0.597506076|11.86%
View ldp546 19 rs10421511
dbSNP Clinvar
8533925 183.91 A G . 1/1 7 None None None 0.82368 0.82370 None None None None None None HNRNPM|0.597506076|11.86%
View ldp546 19 rs12973706
dbSNP Clinvar
8536373 502.8 A G . 1/1 20 None None None 0.94070 0.94070 None None None None None None HNRNPM|0.597506076|11.86%
View ldp546 19 rs77034148
dbSNP Clinvar
8536420 87.44 C A . 0/1 10 None None None 0.01897 0.01897 None None None None None None HNRNPM|0.597506076|11.86%
View ldp546 19 rs11669139
dbSNP Clinvar
8551852 679.94 A G . 1/1 26 None None None 0.88279 0.88280 0.11936 None None None None None None HNRNPM|0.597506076|11.86%
View ldp546 19 rs12608524
dbSNP Clinvar
8552167 110.27 C T . 1/1 4 None None None 0.88119 0.88120 None None None None None None HNRNPM|0.597506076|11.86%
View ldp546 19 rs281427
dbSNP Clinvar
10429120 111.15 T C . 1/1 5 None None None 0.77576 0.77580 None None None None None None RAVER1|0.039670497|65.86%
View ldp546 19 rs3810154
dbSNP Clinvar
10764914 39.26 G A . 1/1 5 None None None 0.66314 0.66310 None None None None None None None
View ldp546 19 rs8102380
dbSNP Clinvar
10801185 480.42 G A . 0/1 39 None None None 0.77716 0.77720 None None None None None None ILF3|0.393061423|21.21%
View ldp546 19 rs13465
dbSNP Clinvar
10802792 790.09 A G . 1/1 36 None None None 0.97744 0.97740 None None None None None None ILF3|0.393061423|21.21%
View ldp546 19 rs13345223
dbSNP Clinvar
11777889 209.54 T C . 0/1 25 None None None 0.53275 0.53270 None None None None None None None
View ldp546 19 rs8112169
dbSNP Clinvar
12618930 41.02 T G . 1/1 6 None None None 0.67193 0.67190 None None None None None None ZNF709|0.001149246|94.72%
View ldp546 19 rs7260235
dbSNP Clinvar
16186772 41.02 G A . 1/1 4 None None None 0.16574 0.16570 None None None None None None TPM4|0.108056274|49.56%
View ldp546 19 rs3826722
dbSNP Clinvar
16192898 205.26 A G . 0/1 26 None None None 0.50519 0.50520 0.42071 None None None None None None TPM4|0.108056274|49.56%
View ldp546 19 rs3786577
dbSNP Clinvar
16192958 59.46 A G . 0/1 7 None None None 0.50539 0.50540 None None None None None None TPM4|0.108056274|49.56%
View ldp546 19 rs2303149
dbSNP Clinvar
16197421 182.15 A G . 1/1 15 None None None 0.58407 0.58410 None None None None None None TPM4|0.108056274|49.56%
View ldp546 19 rs8100532
dbSNP Clinvar
17714586 212.53 A G . 0/1 39 None None None 0.49121 0.49120 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs73026309
dbSNP Clinvar
17714977 301.99 G C . 0/1 30 None None None 0.08886 0.08886 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs73026313
dbSNP Clinvar
17714978 337.24 C A . 0/1 31 None None None 0.08926 0.08926 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs7250113
dbSNP Clinvar
17715183 219.45 T C . 0/1 49 None None None 0.10383 0.10380 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs11550318
dbSNP Clinvar
17716336 151.05 G A . 0/1 25 None None None 0.08886 0.08886 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs7254755
dbSNP Clinvar
17716582 91.71 A G . 0/1 19 None None None 0.11861 0.11860 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs2287851
dbSNP Clinvar
17728502 53.45 T C . 0/1 23 None None None 0.42931 0.42930 0.42883 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs10421645
dbSNP Clinvar
17731716 74.6 G C . 1/1 3 None None None 0.06609 0.06609 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs76225638
dbSNP Clinvar
17738658 155.82 C T . 0/1 18 None None None 0.01897 0.01897 0.04766 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs56388321
dbSNP Clinvar
17738850 157.07 C T . 0/1 11 None None None 0.42592 0.42590 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs140963705
dbSNP Clinvar
17741221 62.47 G A . 0/1 10 None None None 0.00260 0.00260 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs10417445
dbSNP Clinvar
17741422 83.56 G A . 0/1 17 None None None 0.12440 0.12440 0.15250 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs11665838
dbSNP Clinvar
17760232 387.18 C T . 0/1 36 None None None 0.21206 0.21210 0.24792 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs11665951
dbSNP Clinvar
17760561 40.14 C T . 1/1 2 None None None 0.81170 0.81170 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs1159365
dbSNP Clinvar
17763392 435.81 A G . 1/1 27 None None None 0.81190 0.81190 0.10321 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs7258943
dbSNP Clinvar
17769166 254.31 C T . 1/1 9 None None None 0.81390 0.81390 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs10424761
dbSNP Clinvar
17777431 428.79 A G . 1/1 17 None None None 0.75240 0.75240 0.13476 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs7248783
dbSNP Clinvar
17778832 252.56 A G . 1/1 10 None None None 0.75819 0.75820 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs8110254
dbSNP Clinvar
17780602 109.4 C T . 1/1 5 None None None 0.80471 0.80470 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs7251241
dbSNP Clinvar
17786792 235.37 G A . 0/1 29 None None None 0.12420 0.12420 0.20657 None None None None None None UNC13A|0.069265201|57.67%
View ldp546 19 rs4809164
dbSNP Clinvar
21817790 187.18 T C . 0/1 15 None None None 0.58047 0.58050 None None None None None None None
View ldp546 19 rs4572526
dbSNP Clinvar
27732052 62.9 T C . 1/1 4 None None None None None None None None None None
View ldp546 19 rs9916954
dbSNP Clinvar
35874444 503.68 A G . 1/1 18 None None None 0.92832 0.92830 None None None None None None None
View ldp546 19 rs2188617
dbSNP Clinvar
35875036 57.71 T C . 0/1 7 None None None 0.56490 0.56490 None None None None None None None
View ldp546 19 rs73046864
dbSNP Clinvar
36119771 63.74 T G . 0/1 7 None None None 0.04772 0.04772 None None None None None None None
View ldp546 19 rs2285415
dbSNP Clinvar
36122441 287.8 G A . 1/1 10 None None None 0.72464 0.72460 None None None None None None RBM42|0.252947196|31.29%
View ldp546 19 rs8106576
dbSNP Clinvar
36124176 100.75 A G . 0/1 32 None None None 0.45867 0.45870 0.37105 None None None None None None RBM42|0.252947196|31.29%
View ldp546 19 rs2278010
dbSNP Clinvar
39328145 193.22 A C . 0/1 30 None None None 0.33846 0.33850 0.42504 None None None None None None HNRNPL|0.604771804|11.65%
View ldp546 19 rs11083481
dbSNP Clinvar
39331296 110.27 C A . 1/1 5 None None None 0.99421 0.99420 None None None None None None HNRNPL|0.604771804|11.65%
View ldp546 19 rs2278011
dbSNP Clinvar
39334811 150.18 T A . 0/1 15 None None None 0.57388 0.57390 None None None None None None HNRNPL|0.604771804|11.65%
View ldp546 19 rs862454
dbSNP Clinvar
39338125 120.07 G A . 0/1 13 None None None 0.35423 0.35420 0.43641 None None None None None None HNRNPL|0.604771804|11.65%
View ldp546 19 rs862455
dbSNP Clinvar
39338142 57.33 A G . 0/1 9 None None None 0.57488 0.57490 None None None None None None HNRNPL|0.604771804|11.65%
View ldp546 19 rs1457141
dbSNP Clinvar
41257176 288.67 G C . 1/1 43 None None None 0.87680 0.87680 None None None None None None C19orf54|0.037514553|66.62%,SNRPA|0.560226749|13.36%
View ldp546 19 rs12975585
dbSNP Clinvar
41770231 200.5 A T . 0/1 38 None None None 0.43071 0.43070 None None None None None None HNRNPUL1|0.442835008|18.52%
View ldp546 19 rs7248492
dbSNP Clinvar
42013219 46.55 T C . 0/1 16 None None None 0.71845 0.71850 None None None None None None None
View ldp546 19 rs2911005
dbSNP Clinvar
48182568 394.42 C T . 1/1 17 None None None 0.85803 0.85800 0.21065 None None None None None None GLTSCR1|0.038511368|66.29%
View ldp546 19 rs2241613
dbSNP Clinvar
48198796 574.19 C G . 1/1 29 None None None 0.45986 0.45990 None None None None None None GLTSCR1|0.038511368|66.29%
View ldp546 19 rs2241612
dbSNP Clinvar
48198817 397.05 T A . 1/1 19 None None None 0.83646 0.83650 None None None None None None GLTSCR1|0.038511368|66.29%
View ldp546 19 rs2241611
dbSNP Clinvar
48198833 290.43 G C . 1/1 14 None None None 0.45707 0.45710 None None None None None None GLTSCR1|0.038511368|66.29%
View ldp546 19 rs3074111,rs762420237,rs35440072,rs397814952
dbSNP Clinvar
48206229 566.04 CTG C . 1/1 37 None None None 0.83666 0.83670 None None None None None None GLTSCR1|0.038511368|66.29%
View ldp546 19 rs11539822
dbSNP Clinvar
49588746 145.28 C T . 1/1 18 None None None 0.20547 0.20550 None None None None None None SNRNP70|0.747952211|7.14%
View ldp546 19 rs10419811
dbSNP Clinvar
49605530 214.71 A G . 1/1 22 None None None 0.96925 0.96920 None None None None None None SNRNP70|0.747952211|7.14%
View ldp546 19 . 49605964 292.96 G A . 0/1 36 None None None None None None None None None SNRNP70|0.747952211|7.14%
View ldp546 19 rs1062250
dbSNP Clinvar
49606680 80.55 G A . 0/1 18 None None None 0.12380 0.12380 None None None None None None SNRNP70|0.747952211|7.14%
View ldp546 19 rs4802759
dbSNP Clinvar
51430285 59.46 A G . 0/1 6 None None None 0.42632 0.42630 None None None None None None None
View ldp546 19 rs1974830
dbSNP Clinvar
53313419 82.68 G C . 0/1 15 None None None 0.57468 0.57470 None None None None None None ZNF28|0.000672621|97.42%
View ldp546 19 rs4803123
dbSNP Clinvar
53944945 75.48 T C . 1/1 3 None None None 0.62420 0.62420 None None None None None None None
View ldp546 19 rs4803124
dbSNP Clinvar
53945114 143.54 G C . 1/1 10 None None None 0.63618 0.63620 None None None None None None None
View ldp546 19 rs4803125
dbSNP Clinvar
53945215 40.14 G A . 1/1 3 None None None 0.63598 0.63600 None None None None None None None
View ldp546 19 rs4803126
dbSNP Clinvar
53945250 103.56 A T . 1/1 4 None None None 0.63598 0.63600 None None None None None None None
View ldp546 19 rs12983857
dbSNP Clinvar
53945504 217.34 C T . 1/1 12 None None None 0.54952 0.54950 None None None None None None None
View ldp546 19 rs12986193
dbSNP Clinvar
53945679 149.17 T G . 1/1 6 None None None 0.61981 0.61980 None None None None None None None
View ldp546 19 rs12984381
dbSNP Clinvar
53945701 122.51 C T . 1/1 5 None None None 0.63439 0.63440 None None None None None None None
View ldp546 19 rs3865495
dbSNP Clinvar
55009497 160.71 A C . 1/1 13 None None None 0.65256 0.65260 None None None None None None LAIR2|0.000188307|99.79%
View ldp546 19 rs2617686
dbSNP Clinvar
53983048 102.68 A G . 1/1 4 None None None 0.70088 0.70090 None None None None None None ZNF813|0.001073065|95.05%
View ldp546 19 rs583273
dbSNP Clinvar
54534832 252.56 A G . 1/1 13 None None None 0.77616 0.77620 None None None None None None None