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

ATN1,
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)

Genes at Clinical Genomics Database

ATN1,
ATN1 Dentatorubro-pallidoluysian atrophy

Genes at HGMD

Summary

Number of Variants: 15
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

ATN1

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 combined sample_74.variant35 12 . 7045891 3369.13 AC... AC... PASS 3/4 156 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATN1|0.702926343|8.41%
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 combined sample_74.variant35 3 rs781421479
dbSNP Clinvar
100570787 291.64 TA T,... PASS 3/4 27 None None None None None None None None None ABI3BP|0.072954425|56.79%
View combined sample_74.variant35 8 rs796345487
dbSNP Clinvar
41512648 2108.65 GGTGT GG... PASS 3/4 66 None None None None None None None None None ANK1|0.956309863|2.07%
View combined sample_74.variant35 10 rs368691152,rs3028478
dbSNP Clinvar
32094576 1290.37 TC... T,... PASS 3/4 39 None None None None None None None None None ARHGAP12|0.284417118|28.76%
View combined sample_74.variant35 1 rs781920598
dbSNP Clinvar
145697315 1326.8 ATTT AT... PASS 3/4 132 None None None None None None None None None CD160|0.004567583|86.34%
View combined sample_74.variant35 3 . 169381262 301.16 GT... GT... PASS 3/4 9 None None None None None None None None None MECOM|0.999976502|0.11%
View combined sample_74.variant35 6 rs375022734
dbSNP Clinvar
20212200 762.56 AA... AA... PASS 3/4 33 None None None None None None None None None MBOAT1|0.14353671|43.94%
View combined sample_74.variant35 10 rs72416239
dbSNP Clinvar
126674848 1361.45 AC... AC... PASS 3/4 136 None None None 0.78734 0.78730 None None None None None None ZRANB1|0.297372446|27.85%
View combined sample_74.variant35 19 rs57132756,rs796861550
dbSNP Clinvar
46846765 221.07 TT... TT... PASS 3/4 21 None None None None None None None None None None
View combined sample_74.variant35 21 rs9325621
dbSNP Clinvar
44450370 584.03 AG... AG... PASS 3/4 23 None None None None None None None None None PKNOX1|0.097034249|51.72%
View combined sample_74.variant35 2 . 96049917 411.61 TACAC TA... PASS 3/4 34 None None None None None None None None None KCNIP3|0.160681289|41.44%
View combined sample_74.variant35 12 rs5800087
dbSNP Clinvar
93164772 6609.68 G GG... PASS 3/4 196 None None None 0.56969 0.56970 None None None None None None PLEKHG7|0.06024962|59.79%,EEA1|0.669678145|9.39%
View combined sample_74.variant35 16 . 29910431 902.06 GTTTT GT... PASS 3/4 47 None None None None None None None None None SEZ6L2|0.218286533|34.58%
View combined sample_74.variant35 18 . 34374795 884.94 AA... AA... PASS 3/4 75 None None None None None None None None None TPGS2|0.184987975|38.35%
View combined sample_74.variant35 X . 118751062 1374.02 CG... CG... PASS 3/4 57 None None None None None None None None None SEPT6|0.463093049|17.52%
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