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

ANO3, TH,
ANO3 Dystonia 24, 615034 (3)
TH Segawa syndrome, recessive, 605407 (3)

Genes at Clinical Genomics Database

ANO3, TH,
ANO3 Craniocervical dystonia, autosomal dominant (Dystonia 24)
TH Segawa syndrome, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 35
Number of Genes: 2

Export to: CSV

ANO3

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 11 rs2663168
dbSNP
26568966 7167.74 A G PASS 1/1 186 SYNONYMOUS_CODING LOW SILENT 0.67512 0.67510 0.34930 None None None None None None None
View dt39_s5 11 rs11604868
dbSNP
26621117 2581.43 A C PASS 0/1 160 SYNONYMOUS_CODING LOW SILENT 0.16294 0.16290 0.14726 None None None None None None None

TH

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 11 rs6357
dbSNP
2188238 605.54 C T PASS 0/1 118 SYNONYMOUS_CODING LOW SILENT 0.15455 0.15460 0.24714 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 11 rs10501060
dbSNP
26669596 10614.19 C T PASS 0/1 608 None None None 0.09445 0.09445 None None None None None None None
View dt39_s5 11 rs7928987
dbSNP
26581524 730.73 C T PASS 0/1 53 None None None 0.10982 0.10980 None None None None None None None
View dt39_s5 11 rs11029616
dbSNP
26581400 186.69 C T LowQD 0/1 102 None None None 0.06609 0.06609 None None None None None None None
View dt39_s5 11 rs760007715,rs71047866
dbSNP
26581382 755.94 T TAC PASS 0/1 94 None None None None None None None None None None
View dt39_s5 11 . 26574782 21590.6 TGT T,TT PASS 1/2 653 None None None None None None None None None None
View dt39_s5 11 rs142099565
dbSNP
26569239 4622.41 TG T PASS 1/1 174 None None None 0.47744 0.47740 None None None None None None None
View dt39_s5 11 rs420143
dbSNP
26563652 28693.84 T G PASS 1/1 1300 None None None 0.71166 0.71170 0.30260 None None None None None None None
View dt39_s5 11 rs410036
dbSNP
26563464 26226.65 A T PASS 1/1 650 None None None 0.71166 0.71170 0.30245 None None None None None None None
View dt39_s5 11 rs396863
dbSNP
26559172 6688.19 G A PASS 1/1 172 None None None 0.71026 0.71030 None None None None None None None
View dt39_s5 11 rs551759
dbSNP
26556254 22965.86 A G PASS 1/1 580 None None None 0.69968 0.69970 None None None None None None None
View dt39_s5 11 rs410617
dbSNP
26547353 23964.19 T G PASS 1/1 1097 None None None 0.77696 0.77700 None None None None None None None
View dt39_s5 11 rs430563
dbSNP
26547348 23655.04 G A PASS 1/1 1096 None None None 0.76757 0.76760 None None None None None None None
View dt39_s5 11 rs4032918
dbSNP
26465500 17815.86 G A PASS 1/1 439 None None None 0.63538 0.63540 None None None None None None None
View dt39_s5 11 . 26465461 2801.01 AT A PASS 0/1 872 None None None None None None None None None None
View dt39_s5 11 rs17243259
dbSNP
26353951 127.19 G T LowGQX 1/1 4 None None None 0.23802 0.23800 None None None None None None None
View dt39_s5 11 rs7925375
dbSNP
2191155 1140.16 T C PASS 1/1 29 None None None 0.69709 0.69710 None None None None None None None
View dt39_s5 11 rs4074905
dbSNP
2189185 1149.41 G A PASS 0/1 63 None None None 0.70567 0.70570 0.39754 None None None None None None None
View dt39_s5 11 rs7925924
dbSNP
2188566 6819.4 C T PASS 1/1 345 None None None 0.91554 0.91550 None None None None None None None
View dt39_s5 11 rs67482701
dbSNP
2188436 2992.79 A G PASS 0/1 168 None None None 0.16274 0.16270 None None None None None None None
View dt39_s5 11 rs7925784
dbSNP
2188400 8887.6 C T PASS 1/1 224 None None None 0.91594 0.91590 None None None None None None None
View dt39_s5 11 rs7942881
dbSNP
2188388 8852.77 G C PASS 1/1 224 None None None 0.91554 0.91550 None None None None None None None
View dt39_s5 11 rs12419447
dbSNP
2187855 65.02 G C PASS 0/1 9 None None None 0.17991 0.17990 0.26189 None None None None None None None
View dt39_s5 11 rs4072826
dbSNP
2187482 593.8 C G PASS 0/1 34 None None None 0.67951 0.67950 None None None None None None None
View dt39_s5 11 rs7483805
dbSNP
2187477 1247.19 C T PASS 1/1 34 None None None 0.91574 0.91570 None None None None None None None
View dt39_s5 11 rs7479936
dbSNP
2187455 593.8 T G PASS 0/1 34 None None None 0.67931 0.67930 None None None None None None None
View dt39_s5 11 rs4072824
dbSNP
2187439 578.0 C A PASS 0/1 66 None None None 0.73423 0.73420 None None None None None None None
View dt39_s5 11 rs4072823
dbSNP
2187398 1383.12 T G PASS 1/1 66 None None None 0.91653 0.91650 None None None None None None None
View dt39_s5 11 rs6578990
dbSNP
2187071 4373.87 T C PASS 1/1 206 None None None 0.91174 0.91170 None None None None None None None
View dt39_s5 11 rs113119327,rs397970533
dbSNP
26683861 7524.52 T TC PASS 0/1 762 None None None 0.22900 None None None None None None None
View dt39_s5 11 . 2186847 9.3 T C LowGQX 0/1 4 None None None None None None None None None None
View dt39_s5 11 rs3802755
dbSNP
26682834 5031.88 T A PASS 0/1 302 None None None 0.80212 0.80210 None None None None None None None
View dt39_s5 11 rs3802754
dbSNP
26682434 3502.96 T C PASS 0/1 324 None None None 0.23323 0.23320 None None None None None None None