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:

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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
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Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 14
Number of Genes: 1

Export to: CSV
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DNAH12

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 94533-0209701724_ms_onbait 3 rs6806444
dbSNP Clinvar
57475351 2232436.41 T G PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.63359 0.63360 0.33136 0.55 0.00 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs4060726
dbSNP Clinvar
57335876 3089228.19 C T PASS 0/1 149 NON_SYNONYMOUS_CODING MODERATE None 0.66514 0.66510 0.42313 0.89 0.13 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs140326175
dbSNP Clinvar
57401178 100689.88 G C PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.01518 0.01518 0.02519 0.01 1.00 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs4681982
dbSNP Clinvar
57414071 749907.81 G A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.59046 0.59050 0.05 0.00 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs17793014
dbSNP Clinvar
57414097 826487.85 T A PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.23742 0.23740 0.49 0.00 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs17736736
dbSNP Clinvar
57414525 145119.92 A G PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.01558 0.01558 0.02519 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs6773904
dbSNP Clinvar
57419497 2121039.08 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.40415 0.40420 0.40210 0.17 0.91 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs6768943
dbSNP Clinvar
57430988 2311483.96 G A PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.42093 0.42090 0.42860 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs2121743
dbSNP Clinvar
57431985 2831288.51 G A PASS 1/1 112 SYNONYMOUS_CODING LOW None 0.42512 0.42510 0.43408 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs146242022
dbSNP Clinvar
57432330 133367.58 T C PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.01737 0.01737 0.02716 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs116615500
dbSNP Clinvar
57438588 69449.67 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.01737 0.01737 0.02716 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs62621232
dbSNP Clinvar
57448553 109156.25 C T PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.01877 0.01877 0.03022 0.02 0.04 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs6445902
dbSNP Clinvar
57494138 400050.21 A C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.23562 0.23560 0.28526 0.27 0.08 None None None None None None DNAH12|0.248045233|31.71%
View 94533-0209701724_ms_onbait 3 rs10510794
dbSNP Clinvar
57494165 64390.37 C G PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.04872 0.04872 0.05930 None None None None None None DNAH12|0.248045233|31.71%
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