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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: 20
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 62388010_s7 mvar 62388010_S7.SAMTOOLS 16 rs72631431
dbSNP Clinvar 		89882826 556.77 C T PASS 1/1 12 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 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 . 156561558 217.0 GGG GG... PASS 0/1 52 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None APOA1BP|0.065641707|58.46%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 5 . 1801426 1398.23 GC... GC... PASS 3/3 27 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None MRPL36|0.002012562|90.97%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 5 rs34372448
dbSNP Clinvar 		1801427 4527.73 C CG PASS 1/1 39 MOTIF[MA0003.1:Ap2alpha] LOW None 0.61542 0.61540 None None None None None None MRPL36|0.002012562|90.97%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 5 rs11745573
dbSNP Clinvar 		1801432 3723.77 A G PASS 1/1 3 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.61542 0.61540 None None None None None None MRPL36|0.002012562|90.97%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 17 rs79923367
dbSNP Clinvar 		1388656 436.13 G T PASS 0/1 25 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.00280 None None None None None None MYO1C|0.50378708|15.67%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 17 rs12945428
dbSNP Clinvar 		33307586 3451.77 G A PASS 0/1 192 MOTIF[MA0003.1:Ap2alpha] LOW None 0.30671 0.30670 None None None None None None CCT6B|0.170692374|40.2%,LIG3|0.912616535|3.17%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 1 . 156561557 1590.19 GG... GG... PASS 0/2 40 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None APOA1BP|0.065641707|58.46%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 17 . 33307700 2223.73 GCCC GCC PASS 1/1 64 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None CCT6B|0.170692374|40.2%,LIG3|0.912616535|3.17%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 5 rs2303048
dbSNP Clinvar 		122181225 1833.77 G A PASS 1/1 52 MOTIF[MA0003.1:Ap2alpha] LOW None 0.30611 0.30610 None None None None None None SNX24|0.577823246|12.68%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 17 rs28365944
dbSNP Clinvar 		80416377 109.77 C G PASS 0/1 11 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.58826 0.58830 None None None None None None NARF|0.028729266|70.07%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 19 . 35491326 598.73 AG... AG... PASS 1/1 11 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None GRAMD1A|0.103950782|50.42%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 19 . 35491353 217.0 C CC... PASS 0/1 21 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None GRAMD1A|0.103950782|50.42%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 5 rs34647
dbSNP Clinvar 		72112430 2162.77 C G PASS 1/1 50 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.84325 0.84330 None None None None None None TNPO1|0.577927625|12.67%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 10 rs61842918
dbSNP Clinvar 		47746978 211.84 C A PASS 0/1 27 MOTIF[MA0003.1:Ap2alpha] LOW None 0.49062 0.49060 None None None None None None None
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 13 rs9517155
dbSNP Clinvar 		98629334 518.77 G C PASS 1/1 13 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.63858 0.63860 None None None None None None IPO5|0.498949955|15.88%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 15 rs3803354
dbSNP Clinvar 		40856989 1004.77 C T PASS 0/1 79 MOTIF[MA0003.1:Ap2alpha] LOW None 0.85603 0.85600 0.11712 None None None None None None C15orf57|0.10303008|50.61%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 16 rs28418438
dbSNP Clinvar 		15068908 520.77 C G PASS 0/1 107 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.42931 0.42930 None None None None None None PDXDC1|0.09983334|51.21%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 17 . 48277059 280.21 AG... AG... PASS 1/1 11 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None COL1A1|0.749779298|7.09%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 20 . 43977066 430.73 GCCCC GCCC PASS 0/1 39 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None None
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