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

ARMC4,
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)

Genes at Clinical Genomics Database

ARMC4,
ARMC4 Ciliary dyskinesia, primary, 23

Genes at HGMD

Summary

Number of Variants: 24
Number of Genes: 3

Export to: CSV
  • Page 1 of 1

ARMC4

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 19508-01-01_s2 10 rs7893462
dbSNP Clinvar
28228865 4241.6 A G PASS 0/1 452 SYNONYMOUS_CODING LOW SILENT 0.53315 0.53310 0.49193 None None None None None None ARMC4|0.02617115|71.23%

C10orf107

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 19508-01-01_s2 10 rs1992625
dbSNP Clinvar
63520698 11626.04 T C PASS 1/1 442 SYNONYMOUS_CODING LOW SILENT 0.87201 0.87200 0.18156 None None None None None None C10orf107|0.277213376|29.34%

TTC40

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 19508-01-01_s2 10 rs4880288
dbSNP Clinvar
134736076 3890.75 T G PASS 0/1 395 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56350 0.56350 1.00 0.00 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs4880287
dbSNP Clinvar
134736052 3379.98 G T PASS 0/1 338 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35923 0.35920 0.15 0.06 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs4880286
dbSNP Clinvar
134736026 2363.14 G A PASS 0/1 234 SYNONYMOUS_CODING LOW SILENT 0.35903 0.35900 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs7915371
dbSNP Clinvar
134735672 7734.32 A G PASS 0/1 626 SYNONYMOUS_CODING LOW SILENT 0.53474 0.53470 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs4880467
dbSNP Clinvar
134726621 9057.44 G C PASS 0/1 761 SYNONYMOUS_CODING LOW SILENT 0.28654 0.28650 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs12781609
dbSNP Clinvar
134748331 812.22 C T PASS 0/1 147 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37340 0.37340 0.37114 0.86 0.00 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 . 134723431 2296.57 C T PASS 0/1 232 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14 0.38 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs7075277
dbSNP Clinvar
134722022 4565.67 A G PASS 0/1 410 SYNONYMOUS_CODING LOW SILENT 0.58107 0.58110 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs142539335
dbSNP Clinvar
134691434 6717.37 T C PASS 0/1 568 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00519 0.00519 0.16 0.01 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs10870341
dbSNP Clinvar
134659626 2921.76 A G PASS 0/1 319 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16873 0.16870 0.16680 0.65 0.00 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs2274429
dbSNP Clinvar
134624504 5407.29 C T PASS 0/1 418 SYNONYMOUS_CODING LOW SILENT 0.33107 0.33110 0.27080 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs2254419
dbSNP Clinvar
134623959 11577.6 T C PASS 1/1 445 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75699 0.75700 0.22643 0.78 0.00 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs2767434
dbSNP Clinvar
134622408 10063.37 T C PASS 1/1 373 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.74261 0.74260 0.24688 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs4075501
dbSNP Clinvar
134738232 4534.75 A G PASS 0/1 412 SYNONYMOUS_CODING LOW SILENT 0.53315 0.53310 None None None None None None CFAP46|0.002457988|89.78%
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 19508-01-01_s2 10 rs2307047
dbSNP Clinvar
25271270 4592.62 G A PASS 0/1 446 None None None 0.38039 0.38040 None None None None None None ENKUR|0.101739476|50.82%
View 19508-01-01_s2 10 rs12254100
dbSNP Clinvar
134726335 4428.02 T C PASS 0/1 414 None None None 0.38459 0.38460 None None None None None None CFAP46|0.002457988|89.78%
View 19508-01-01_s2 10 rs151189963
dbSNP Clinvar
63422754 1691.65 G GG... LowDP 1/1 12 None None None 0.98982 0.98980 None None None None None None C10orf107|0.277213376|29.34%
View 19508-01-01_s2 10 rs10599433
dbSNP Clinvar
28274145 171.73 CA C R8 0/1 57 None None None None None None None None None ARMC4|0.02617115|71.23%
View 19508-01-01_s2 10 rs147333449,rs869075883
dbSNP Clinvar
28101113 14768.04 CTT C PASS 1/1 335 None None None 0.56410 0.56410 None None None None None None ARMC4|0.02617115|71.23%
View 19508-01-01_s2 10 rs902906
dbSNP Clinvar
25351196 1499.08 C T PASS 0/1 186 None None None 0.37879 0.37880 None None None None None None None
View 19508-01-01_s2 10 rs397694337
dbSNP Clinvar
25273311 614.32 G GA R8 0/1 193 None None None None None None None None None ENKUR|0.101739476|50.82%
View 19508-01-01_s2 10 rs7898115
dbSNP Clinvar
134756013 77.23 T C LowDP 0/1 18 None None None 0.49701 0.49700 0.41032 None None None None None None CFAP46|0.002457988|89.78%
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