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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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CADD

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+ Genes 2

Genes:
HYDIN, SPAG1,

+ Genes associated with diseases 2

Genes at Omim

HYDIN, SPAG1,
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 36
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

HYDIN
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 20167-01-01_s21-kopie 16 rs929312
dbSNP Clinvar 		71163606 462.08 C T LowVariantFreq 0/1 438 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs375654301
dbSNP Clinvar 		70926312 901.47 A G LowVariantFreq 0/1 306 SYNONYMOUS_CODING LOW SILENT 0.00025 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs929311
dbSNP Clinvar 		71163579 215.62 C T LowVariantFreq 0/1 373 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1774311
dbSNP Clinvar 		70908239 562.02 G A LowVariantFreq 0/1 210 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs11075798
dbSNP Clinvar 		70894024 974.74 C T LowVariantFreq 0/1 299 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20 0.26 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs577066918
dbSNP Clinvar 		71127770 227.59 C T LowVariantFreq 0/1 191 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00060 0.00060 0.01 0.39 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs1774423
dbSNP Clinvar 		70926334 991.64 G C LowVariantFreq 0/1 316 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.96 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs62040318
dbSNP Clinvar 		71122408 332.07 C T LowVariantFreq 0/1 258 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs2271453
dbSNP Clinvar 		71094434 161.69 G A LowVariantFreq 0/1 175 SYNONYMOUS_CODING LOW SILENT None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 16 rs200979879
dbSNP Clinvar 		70993639 913.73 C T LowVariantFreq 0/1 300 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None HYDIN|0.080749251|55.02%

SPAG1
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 20167-01-01_s21-kopie 8 rs17335870
dbSNP Clinvar 		101206391 312.2 G A LowVariantFreq 0/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15056 0.15060 0.15785 1.00 0.00 None None None None None None SPAG1|0.055472579|61.06%
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 20167-01-01_s21-kopie 11 . 73661496 106.48 A T LowVariantFreq 0/1 206 None None None None None None None None None DNAJB13|0.167244914|40.62%
View 20167-01-01_s21-kopie 8 . 49636498 296.13 C T LowVariantFreq 0/1 327 None None None None None None None None None EFCAB1|0.138695847|44.58%
View 20167-01-01_s21-kopie 8 . 49636497 258.83 G C LowVariantFreq 0/1 326 None None None None None None None None None EFCAB1|0.138695847|44.58%
View 20167-01-01_s21-kopie 8 . 49636460 573.89 T A LowVariantFreq 0/1 360 None None None None None None None None None EFCAB1|0.138695847|44.58%
View 20167-01-01_s21-kopie 8 rs748219472
dbSNP Clinvar 		49636443 433.83 G A LowVariantFreq 0/1 384 None None None None None None None None None EFCAB1|0.138695847|44.58%
View 20167-01-01_s21-kopie 8 . 49636423 10.36 C T LowVariantFreq 0/1 367 None None None None None None None None None EFCAB1|0.138695847|44.58%
View 20167-01-01_s21-kopie 8 . 49636421 34.37 A G LowVariantFreq 0/1 367 None None None None None None None None None EFCAB1|0.138695847|44.58%
View 20167-01-01_s21-kopie 8 . 49636379 527.73 C T LowVariantFreq 0/1 364 None None None None None None None None None EFCAB1|0.138695847|44.58%
View 20167-01-01_s21-kopie 8 . 49636372 400.68 G A LowVariantFreq 0/1 345 None None None None None None None None None EFCAB1|0.138695847|44.58%
View 20167-01-01_s21-kopie 17 . 78040534 94.4 A G LowVariantFreq 0/1 118 None None None None None None None None None CCDC40|0.000987297|95.52%
View 20167-01-01_s21-kopie 3 rs11130795
dbSNP Clinvar 		60898434 70.33 T C LowVariantFreq 0/1 40 None None None 0.44569 0.44570 0.31531 None None None None None None FHIT|0.998900024|0.43%
View 20167-01-01_s21-kopie 1 . 245285329 134.68 C T LowVariantFreq 0/1 152 None None None None None None None None None EFCAB2|0.09874582|51.4%
View 20167-01-01_s21-kopie 1 rs955277113
dbSNP Clinvar 		38030724 298.16 C T LowVariantFreq 0/1 151 None None None None None None None None None DNALI1|0.256307067|31.03%
View 20167-01-01_s21-kopie 1 rs1028033713
dbSNP Clinvar 		38030712 281.27 G A LowVariantFreq 0/1 176 None None None None None None None None None DNALI1|0.256307067|31.03%
View 20167-01-01_s21-kopie 1 rs2748976
dbSNP Clinvar 		1886501 246.12 C A LowVariantFreq 0/1 314 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None CFAP74|0.001720148|91.8%
View 20167-01-01_s21-kopie 16 rs7190934
dbSNP Clinvar 		70916816 404.98 G A LowVariantFreq 0/1 126 None None None None None None None None None HYDIN|0.080749251|55.02%
View 20167-01-01_s21-kopie 14 . 74169109 293.36 A G LowVariantFreq 0/1 93 None None None None None None None None None DNAL1|0.410951405|20.13%
View 20167-01-01_s21-kopie 14 . 74169106 159.61 G A LowVariantFreq 0/1 96 None None None None None None None None None DNAL1|0.410951405|20.13%
View 20167-01-01_s21-kopie 14 . 74169105 171.17 A C LowVariantFreq 0/1 98 None None None None None None None None None DNAL1|0.410951405|20.13%
View 20167-01-01_s21-kopie 14 . 74166794 623.43 C T LowVariantFreq 0/1 258 None None None None None None None None None DNAL1|0.410951405|20.13%
View 20167-01-01_s21-kopie 14 rs758020623
dbSNP Clinvar 		74166792 727.86 T C LowVariantFreq 0/1 248 None None None None None None None None None DNAL1|0.410951405|20.13%
View 20167-01-01_s21-kopie 14 . 74166146 85.45 C T LowVariantFreq 0/1 171 None None None None None None None None None DNAL1|0.410951405|20.13%
View 20167-01-01_s21-kopie 14 . 74165420 177.99 T G LowVariantFreq 0/1 212 None None None None None None None None None DNAL1|0.410951405|20.13%
View 20167-01-01_s21-kopie 14 . 74164190 412.01 C A LowVariantFreq 0/1 135 None None None None None None None None None DNAL1|0.410951405|20.13%
View 20167-01-01_s21-kopie 11 . 73661500 104.95 C A LowVariantFreq 0/1 204 None None None None None None None None None DNAJB13|0.167244914|40.62%
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