SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
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
RESET FILTER | Save Config | Save Analysis

Genes at Omim

IGF2, KCNQ1, WARS,
IGF2 ?Growth restriction, severe, with distinctive facies, 616489 (3)
KCNQ1 Atrial fibrillation, familial, 3, 607554 (3)
{Long QT syndrome 1, acquired, susceptibility to}, 192500 (3)
Jervell and Lange-Nielsen syndrome, 220400 (3)
Long QT syndrome 1, 192500 (3)
Short QT syndrome 2, 609621 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)

Genes at Clinical Genomics Database

IGF2, KCNQ1,
IGF2 Growth restriction, severe, with distinctive facies
KCNQ1 Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome 2
Atrial fibrillation, familial 3

Genes at HGMD

Summary

Number of Variants: 1376
Number of Genes: 6

Export to: CSV

GRB10

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 17nr2143 7 . 50660785 8780.77 C A . 1/1 268 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.70 None None None None None None GRB10|0.773161711|6.48%

IGF2

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 17nr2143 11 . 2154812 2793.77 G A . 1/1 79 STOP_GAINED HIGH None None None None None None None IGF2|0.012356922|79.01%,INS-IGF2|0.999990097|0.06%
View 17nr2143 11 . 2154875 2132.77 A G . 1/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.01 None None None None None None IGF2|0.012356922|79.01%,INS-IGF2|0.999990097|0.06%

KCNQ1

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 17nr2143 11 . 2799225 5770.77 A G . 1/1 183 SYNONYMOUS_CODING LOW None None None None None None None KCNQ1|0.362119637|23.28%

NPAP1

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 17nr2143 15 . 24922919 856.77 G T . 1/1 26 SYNONYMOUS_CODING LOW None None None None None None None NPAP1|0.000297949|99.4%
View 17nr2143 15 rs375914427
dbSNP Clinvar
24923001 1045.77 A G . 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.48 0.00 None None None None None None NPAP1|0.000297949|99.4%

TRPM5

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 17nr2143 11 . 2428013 3399.77 A G . 1/1 113 SYNONYMOUS_CODING LOW None None None None None None None TRPM5|0.01524992|76.97%
View 17nr2143 11 . 2437163 12823.77 T A . 1/1 384 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.85 None None None None None None TRPM5|0.01524992|76.97%

WARS

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 17nr2143 14 . 100828073 771.77 C G . 1/1 25 SYNONYMOUS_CODING LOW None None None None None None None WARS|0.125904071|46.48%
View 17nr2143 14 . 100808663 32729.73 C CT . 1/1 342 None None None None None None None None None WARS|0.125904071|46.48%
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 17nr2143 11 rs950671769
dbSNP Clinvar
2062784 25828.77 C T . 1/1 757 None None None None None None None None None None
View 17nr2143 15 . 24752481 11439.77 A G . 1/1 323 None None None None None None None None None None
View 17nr2143 6 . 143943229 10865.77 C T . 1/1 325 None None None None None None None None None None
View 17nr2143 6 . 143943803 15149.77 C A . 1/1 440 None None None None None None None None None None
View 17nr2143 6 . 143944715 18031.73 GTA G . 1/1 513 None None None None None None None None None None
View 17nr2143 6 . 143944956 15097.77 G C . 1/1 438 None None None None None None None None None None
View 17nr2143 6 . 143945382 22708.77 A G . 1/1 657 None None None None None None None None None None
View 17nr2143 6 . 143946046 24494.77 G A . 1/1 697 None None None None None None None None None None
View 17nr2143 6 . 143946225 17863.77 T C . 1/1 570 None None None None None None None None None None
View 17nr2143 6 . 143946832 11505.77 C T . 1/1 330 None None None None None None None None None None
View 17nr2143 11 . 2109608 7445.77 T G . 1/1 236 None None None None None None None None None None
View 17nr2143 11 . 2111724 2451.77 G A . 1/1 76 None None None None None None None None None None
View 17nr2143 6 . 143955188 17631.77 G A . 1/1 517 None None None None None None None None None None
View 17nr2143 6 . 143994082 11390.77 A G . 1/1 336 None None None None None None None None None None
View 17nr2143 6 . 143999032 17986.77 C T . 1/1 529 None None None None None None None None None None
View 17nr2143 6 . 144001851 14574.77 T A . 1/1 415 None None None None None None None None None None
View 17nr2143 6 . 144002882 8211.77 G A . 1/1 261 None None None None None None None None None None
View 17nr2143 6 . 144004184 32729.73 AT A . 1/1 370 None None None None None None None None None None
View 17nr2143 6 . 144004992 1172.77 A T . 1/1 34 None None None None None None None None None None
View 17nr2143 7 . 50580163 16315.77 A C . 1/1 485 None None None None None None None None None None
View 17nr2143 11 . 2198231 3900.77 C T . 1/1 124 None None None None None None None None None None
View 17nr2143 7 . 50584571 5897.77 T C . 1/1 191 None None None None None None None None None None
View 17nr2143 7 . 50586706 32738.77 A G . 1/1 2031 None None None None None None None None None None
View 17nr2143 7 . 50587589 32729.73 C CT... . 1/1 361 None None None None None None None None None None
View 17nr2143 7 . 50588059 22927.77 G A . 1/1 688 None None None None None None None None None None
View 17nr2143 7 . 50589999 5713.77 T C . 1/1 168 None None None None None None None None None None
View 17nr2143 7 . 50591267 23590.77 C A . 1/1 719 None None None None None None None None None None
View 17nr2143 7 . 50592741 12464.77 T C . 1/1 405 None None None None None None None None None None
View 17nr2143 7 . 50593835 21011.77 T C . 1/1 599 None None None None None None None None None None
View 17nr2143 7 . 50594102 14608.77 T C . 1/1 471 None None None None None None None None None None
View 17nr2143 7 . 50594220 9951.77 A G . 1/1 289 None None None None None None None None None None
View 17nr2143 7 . 50595037 14523.77 A G . 1/1 470 None None None None None None None None None None
View 17nr2143 7 . 50597957 3943.77 A G . 1/1 112 None None None None None None None None None None
View 17nr2143 7 . 50602058 28337.73 C CCAAA . 1/1 472 None None None None None None None None None None
View 17nr2143 7 . 50602380 6471.77 A G . 1/1 179 None None None None None None None None None None
View 17nr2143 7 . 50603784 17512.77 C G . 1/1 501 None None None None None None None None None None
View 17nr2143 7 . 50605165 13644.73 T TC... . 1/1 140 None None None None None None None None None None
View 17nr2143 7 . 50621587 10975.77 A G . 1/1 349 None None None None None None None None None None
View 17nr2143 7 . 50621665 13434.77 A G . 1/1 408 None None None None None None None None None None
View 17nr2143 11 . 2204479 4276.73 A AC . 1/1 105 None None None None None None None None None None
View 17nr2143 11 . 2204995 2596.77 T C . 1/1 81 None None None None None None None None None None
View 17nr2143 7 . 50624341 10797.77 C T . 1/1 320 None None None None None None None None None None
View 17nr2143 7 . 50626760 11354.77 A G . 1/1 373 None None None None None None None None None None
View 17nr2143 7 . 50628397 9143.77 C T . 1/1 280 None None None None None None None None None None
View 17nr2143 7 . 50629488 10262.77 T C . 1/1 294 None None None None None None None None None None
View 17nr2143 7 . 50629582 13787.77 A C . 1/1 405 None None None None None None None None None None
View 17nr2143 7 . 50629924 9202.77 T C . 1/1 267 None None None None None None None None None None
View 17nr2143 7 . 50631079 15430.77 T A . 1/1 454 None None None None None None None None None None
View 17nr2143 7 . 50631296 19661.77 T C . 1/1 545 None None None None None None None None None None
View 17nr2143 7 . 50631428 16902.77 T C . 1/1 552 None None None None None None None None None None
View 17nr2143 7 . 50631655 12353.77 T G . 1/1 367 None None None None None None None None None None
View 17nr2143 7 . 50632121 9549.77 C A . 1/1 278 None None None None None None None None None None
View 17nr2143 7 . 50632147 9964.73 A AT . 1/1 286 None None None None None None None None None None
View 17nr2143 7 . 50632240 14160.77 A T . 1/1 412 None None None None None None None None None None
View 17nr2143 7 . 50632456 6668.77 C T . 1/1 202 None None None None None None None None None None
View 17nr2143 7 . 50632511 5752.77 C T . 1/1 163 None None None None None None None None None None
View 17nr2143 11 . 2064902 32738.77 G A . 1/1 968 None None None None None None None None None None
View 17nr2143 11 . 2208131 5456.77 G A . 1/1 168 None None None None None None None None None None
View 17nr2143 7 rs779224332
dbSNP Clinvar
50632601 4044.77 T C . 1/1 115 None None None None None None None None None None
View 17nr2143 7 . 50632953 7812.77 C T . 1/1 225 None None None None None None None None None None
View 17nr2143 7 . 50633139 11584.77 T G . 1/1 371 None None None None None None None None None None
View 17nr2143 7 . 50633658 7340.77 G A . 1/1 208 None None None None None None None None None None
View 17nr2143 11 . 2208343 2089.77 G T . 1/1 62 None None None None None None None None None None
View 17nr2143 7 . 50633709 32729.73 A AA... . 1/1 176 None None None None None None None None None None
View 17nr2143 11 . 2208347 1966.77 C G . 1/1 62 None None None None None None None None None None
View 17nr2143 7 . 50633747 8363.77 A G . 1/1 236 None None None None None None None None None None
View 17nr2143 7 . 50633904 11672.77 A C . 1/1 336 None None None None None None None None None None
View 17nr2143 7 . 50633966 11755.77 A G . 1/1 328 None None None None None None None None None None
View 17nr2143 7 . 50634056 12410.77 C T . 1/1 363 None None None None None None None None None None
View 17nr2143 7 . 50634260 7649.77 C T . 1/1 214 None None None None None None None None None None
View 17nr2143 7 . 50634324 7480.77 T C . 1/1 217 None None None None None None None None None None
View 17nr2143 7 . 50634491 14745.77 C T . 1/1 439 None None None None None None None None None None
View 17nr2143 7 . 50634651 14491.77 A G . 1/1 424 None None None None None None None None None None
View 17nr2143 7 . 50634783 12961.77 G A . 1/1 385 None None None None None None None None None None
View 17nr2143 7 . 50634823 13419.77 T C . 1/1 391 None None None None None None None None None None
View 17nr2143 7 . 50634931 13629.77 C A . 1/1 400 None None None None None None None None None None
View 17nr2143 11 . 2211080 1959.77 A C . 1/1 54 None None None None None None None None None None
View 17nr2143 7 . 50634968 14424.77 G C . 1/1 415 None None None None None None None None None None
View 17nr2143 7 . 50635378 5486.77 T C . 1/1 180 None None None None None None None None None None
View 17nr2143 7 . 50635387 5993.77 A G . 1/1 174 None None None None None None None None None None
View 17nr2143 7 . 50635413 5931.77 T C . 1/1 166 None None None None None None None None None None
View 17nr2143 7 . 50635561 32729.73 C CA... . 1/1 200 None None None None None None None None None None
View 17nr2143 7 . 50635585 6558.77 T G . 1/1 186 None None None None None None None None None None
View 17nr2143 7 . 50635941 272.77 CTT C . 1/1 15 None None None None None None None None None None
View 17nr2143 7 . 50636396 6764.77 T C . 1/1 214 None None None None None None None None None None
View 17nr2143 11 . 2211114 2156.77 A G . 1/1 71 None None None None None None None None None None
View 17nr2143 11 . 2211129 2192.77 A G . 1/1 73 None None None None None None None None None None
View 17nr2143 11 . 2211148 3571.77 A C . 1/1 100 None None None None None None None None None None
View 17nr2143 11 . 2212373 3503.77 A G . 1/1 110 None None None None None None None None None None
View 17nr2143 11 . 2212379 3612.77 G A . 1/1 109 None None None None None None None None None None