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+ Genes 2

Genes:
ATP5A1, MRPS7,

+ Genes associated with diseases 2

Genes at Omim

ATP5A1, MRPS7,
ATP5A1 ?Combined oxidative phosphorylation deficiency 22, 616045 (3)
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3)
MRPS7 ?Combined oxidative phosphorylation deficiency 34, 617872 (3)

Genes at Clinical Genomics Database

ATP5A1,
ATP5A1 Combined oxidative phosphorylation deficiency 22
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4

Genes at HGMD

Summary

Number of Variants: 18
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

ATP5A1
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 combined sample_95.variant40 18 rs56181324
dbSNP Clinvar 		43678024 872.37 G A PASS 0/1 28 MOTIF[MA0095.1:Yy1] LOW None 0.23882 0.23880 None None None None None None ATP5A1|0.559577689|13.38%

MRPS7
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 combined sample_95.variant40 17 rs8075276
dbSNP Clinvar 		73257986 6461.15 C T PASS 0/1 206 MOTIF[MA0095.1:Yy1] LOW None 0.65735 0.65730 0.34005 0.00 1.00 None None None None None None GGA3|0.125773495|46.52%,MRPS7|0.30443526|27.34%
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 combined sample_95.variant40 6 rs3094614
dbSNP Clinvar 		30181275 417.52 A G PASS 0/1 57 MOTIF[MA0095.1:Yy1] LOW None 0.39756 0.39760 None None None None None None None
View combined sample_95.variant40 8 rs13261590
dbSNP Clinvar 		123793984 236.99 T C PASS 1/1 31 MOTIF[MA0095.1:Yy1] MODIFIER None 0.88339 0.88340 None None None None None None ZHX2|0.985755188|1.26%
View combined sample_95.variant40 2 rs41285977
dbSNP Clinvar 		73461553 1410.6 C T PASS 0/1 140 MOTIF[MA0095.1:Yy1] LOW None 0.03654 0.03654 0.05770 None None None None None None CCT7|0.514685663|15.17%
View combined sample_95.variant40 20 rs2072961
dbSNP Clinvar 		1099666 1490.33 G C PASS 0/1 51 MOTIF[MA0095.1:Yy1] LOW None 0.73003 0.73000 None None None None None None PSMF1|0.201334889|36.61%
View combined sample_95.variant40 X rs55914635
dbSNP Clinvar 		102470553 1047.78 C G PASS 1/1 44 MOTIF[MA0095.1:Yy1] MODIFIER None 0.17536 0.17540 None None None None None None BEX4|0.007503312|83.06%
View combined sample_95.variant40 17 rs4788868
dbSNP Clinvar 		73127971 1206.6 A T PASS 1/1 60 MOTIF[MA0095.1:Yy1] MODIFIER None 0.99760 0.99760 None None None None None None None
View combined sample_95.variant40 11 rs907611
dbSNP Clinvar 		1874072 43.52 G A PASS 0/1 10 MOTIF[MA0095.1:Yy1] LOW None 0.23223 0.23220 None None None None None None None
View combined sample_95.variant40 21 rs772357297
dbSNP Clinvar 		11098685 2671.12 CT... C PASS 0/1 793 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
View combined sample_95.variant40 14 rs4982710
dbSNP Clinvar 		23398902 115.68 C T PASS 1/1 12 MOTIF[MA0095.1:Yy1] LOW None 0.63199 0.63200 None None None None None None None
View combined sample_95.variant40 15 rs4374117
dbSNP Clinvar 		63340647 2247.68 A G PASS 1/1 47 MOTIF[MA0095.1:Yy1] LOW None 0.99361 0.99360 None None None None None None TPM1|0.978525529|1.5%
View combined sample_95.variant40 16 rs42139
dbSNP Clinvar 		21531609 5046.88 C T PASS 0/1 379 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
View combined sample_95.variant40 17 rs3785793
dbSNP Clinvar 		6659324 1004.8 A G PASS 0/1 67 MOTIF[MA0095.1:Yy1] LOW None 0.60723 0.60720 0.46343 None None None None None None XAF1|0.002684279|89.28%
View combined sample_95.variant40 19 rs7260578
dbSNP Clinvar 		5910095 832.02 G A PASS 0/1 103 MOTIF[MA0095.1:Yy1] LOW None 0.56310 0.56310 None None None None None None VMAC|0.011245463|79.85%
View combined sample_95.variant40 19 rs76211352
dbSNP Clinvar 		12886478 35.96 G A PASS 0/1 5 MOTIF[MA0095.1:Yy1] LOW None 0.02456 0.02456 None None None None None None HOOK2|0.048125387|63.28%
View combined sample_95.variant40 1 rs61776584
dbSNP Clinvar 		26438455 758.65 T C PASS 0/1 65 MOTIF[MA0095.1:Yy1] LOW None 0.21426 0.21430 None None None None None None PDIK1L|0.785073671|6.22%
View combined sample_95.variant40 20 rs60461814
dbSNP Clinvar 		62887012 115.55 C T PASS 0/1 45 MOTIF[MA0095.1:Yy1] LOW None 0.14058 0.14060 None None None None None None None
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