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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 1

Genes:
FANCA,

+ Genes associated with diseases 1

Genes at Omim

FANCA,
FANCA Fanconi anemia, complementation group A, 227650 (3)

Genes at Clinical Genomics Database

FANCA,
FANCA Fanconi anemia, complementation group A

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

FANCA
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 62393865_s40 mvar 62393865_S40.FREEBAYES 16 rs72631431
dbSNP Clinvar 		89882826 428.77 C T PASS 1/1 11 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.57368 0.57370 None None None None None None FANCA|0.007695026|82.85%
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 62393865_s40 mvar 62393865_S40.FREEBAYES 10 rs61842918
dbSNP Clinvar 		47746978 171.29 C A PASS 1/1 7 MOTIF[MA0003.1:Ap2alpha] LOW None 0.49062 0.49060 None None None None None None None
View 62393865_s40 mvar 62393865_S40.FREEBAYES 5 rs34647
dbSNP Clinvar 		72112430 2026.77 C G PASS 1/1 52 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.84325 0.84330 None None None None None None TNPO1|0.577927625|12.67%
View 62393865_s40 mvar 62393865_S40.FREEBAYES 17 . 33307700 2276.73 GCCC GCC PASS 1/1 70 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None CCT6B|0.170692374|40.2%,LIG3|0.912616535|3.17%
View 62393865_s40 mvar 62393865_S40.FREEBAYES 19 . 35491326 713.73 AG... AG... PASS 1/1 11 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None GRAMD1A|0.103950782|50.42%
View 62393865_s40 mvar 62393865_S40.FREEBAYES 1 . 156561557 1101.19 GG... GG... PASS 1/1 7 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None APOA1BP|0.065641707|58.46%
View 62393865_s40 mvar 62393865_S40.FREEBAYES 16 rs28418438
dbSNP Clinvar 		15068908 1554.77 C G PASS 0/1 75 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.42931 0.42930 None None None None None None PDXDC1|0.09983334|51.21%
View 62393865_s40 mvar 62393865_S40.FREEBAYES 17 rs79923367
dbSNP Clinvar 		1388656 236.96 G T PASS 0/1 13 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.00280 None None None None None None MYO1C|0.50378708|15.67%
View 62393865_s40 mvar 62393865_S40.FREEBAYES 13 rs9517155
dbSNP Clinvar 		98629334 385.77 G C PASS 0/1 22 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.63858 0.63860 None None None None None None IPO5|0.498949955|15.88%
View 62393865_s40 mvar 62393865_S40.FREEBAYES 15 rs3803354
dbSNP Clinvar 		40856989 2305.77 C T PASS 1/1 65 MOTIF[MA0003.1:Ap2alpha] LOW None 0.85603 0.85600 0.11712 None None None None None None C15orf57|0.10303008|50.61%
View 62393865_s40 mvar 62393865_S40.FREEBAYES 19 . 16186813 757.73 AC... AC... PASS 0/1 93 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None TPM4|0.108056274|49.56%
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