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

SGCE,
SGCE Dystonia-11, myoclonic, 159900 (3)

Genes at Clinical Genomics Database

SGCE,
SGCE Dystonia 11, myoclonic

Genes at HGMD

Summary

Number of Variants: 21
Number of Genes: 1

Export to: CSV

SGCE

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 dt39_s5 7 rs10247562
dbSNP
94227276 42.27 T G PASS 0/1 3 None None None 0.76238 0.76240 0.12 0.00 None None None None None None None
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 dt39_s5 7 . 94227366 6.76 T C LowGQX;LowQD 0/1 9 None None None None None None None None None None
View dt39_s5 7 . 94227208 4.25 A T LowGQX;LowQD 0/1 3 None None None None None None None None None None
View dt39_s5 7 rs3837091,rs10600316
dbSNP
50628739 7591.11 CCTCT C PASS 0/1 263 None None None 0.29293 0.29290 None None None None None None None
View dt39_s5 7 rs3823674
dbSNP
50571996 12352.6 C T PASS 1/1 313 None None None 0.35304 0.35300 None None None None None None None
View dt39_s5 7 rs540730472
dbSNP
50560394 3520.71 G C PASS 1/1 88 None None None 0.48163 0.48160 None None None None None None None
View dt39_s5 7 rs578102955
dbSNP
50560393 3518.06 G T PASS 1/1 88 None None None 0.48163 0.48160 None None None None None None None
View dt39_s5 7 rs557877090
dbSNP
50560392 3458.85 T C PASS 1/1 88 None None None 0.48023 0.48020 None None None None None None None
View dt39_s5 7 rs538192467
dbSNP
50560391 3497.82 A T PASS 1/1 88 None None None 0.48063 0.48060 None None None None None None None
View dt39_s5 7 rs569874474
dbSNP
50560390 3502.29 A C PASS 1/1 88 None None None 0.48063 0.48060 None None None None None None None
View dt39_s5 7 rs556388415
dbSNP
50560389 3483.15 A T PASS 1/1 88 None None None 0.48063 0.48060 None None None None None None None
View dt39_s5 7 rs62445939
dbSNP
50560385 3285.67 T G PASS 1/1 88 None None None 0.52596 0.52600 None None None None None None None
View dt39_s5 7 . 50560383 262.27 T TC PASS 1/1 86 None None None None None None None None None None
View dt39_s5 7 rs35666388
dbSNP
50560382 169.97 A AC LowGQX;LowQD 1/1 86 None None None 0.52596 0.52600 None None None None None None None
View dt39_s5 7 rs573002688
dbSNP
50560379 2881.18 G GAATT PASS 1/1 86 None None None 0.52596 0.52600 None None None None None None None
View dt39_s5 7 rs13234331
dbSNP
50560314 3451.8 G T PASS 1/1 88 None None None 0.35084 0.35080 None None None None None None None
View dt39_s5 7 rs11575456,rs112209590,rs59827423
dbSNP
50547661 5040.77 AG... A PASS 1/1 67 None None None 0.52616 0.52620 None None None None None None None
View dt39_s5 7 rs11575457
dbSNP
50547584 2676.25 A C PASS 1/1 68 None None None 0.52376 0.52380 0.45087 None None None None None None None
View dt39_s5 7 rs5884156,rs869220232
dbSNP
50544269 24721.92 AG A PASS 1/1 460 None None None 0.73423 0.73420 0.23462 None None None None None None None
View dt39_s5 7 rs10232398
dbSNP
94227509 43.44 G A PASS 0/1 6 None None None 0.76298 0.76300 None None None None None None None
View dt39_s5 7 rs3757472
dbSNP
50537983 1401.89 A C PASS 1/1 49 None None None 0.62840 0.62840 None None None None None None None