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+ Genes 3

Genes:
ATP5A1, DHRS4L2, 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: 16
Number of Genes: 3

Export to: CSV
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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_43.variant7 18 rs56181324
dbSNP Clinvar 		43678024 872.37 G A PASS 0/1 19 MOTIF[MA0095.1:Yy1] LOW None 0.23882 0.23880 None None None None None None ATP5A1|0.559577689|13.38%

DHRS4L2
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_43.variant7 14 rs2273946
dbSNP Clinvar 		24458162 1608.88 G C PASS 0/1 288 MOTIF[MA0095.1:Yy1] LOW None 0.67392 0.67390 0.48408 0.95 0.00 None None None None None None DHRS4L2|0.007168249|83.32%

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_43.variant7 17 rs8075276
dbSNP Clinvar 		73257986 6461.15 C T PASS 1/1 193 MOTIF[MA0095.1:Yy1] LOW None 0.65735 0.65730 0.34005 0.00 0.01 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_43.variant7 11 rs907611
dbSNP Clinvar 		1874072 43.52 G A PASS 0/1 9 MOTIF[MA0095.1:Yy1] LOW None 0.23223 0.23220 None None None None None None None
View combined sample_43.variant7 11 rs114076082
dbSNP Clinvar 		124670383 906.62 C G PASS 0/1 92 MOTIF[MA0095.1:Yy1] MODIFIER None 0.08007 0.08007 None None None None None None MSANTD2|0.510799275|15.34%
View combined sample_43.variant7 6 rs3094614
dbSNP Clinvar 		30181275 417.52 A G PASS 0/1 30 MOTIF[MA0095.1:Yy1] LOW None 0.39756 0.39760 None None None None None None None
View combined sample_43.variant7 17 rs4788868
dbSNP Clinvar 		73127971 1206.6 A T PASS 1/1 40 MOTIF[MA0095.1:Yy1] MODIFIER None 0.99760 0.99760 None None None None None None None
View combined sample_43.variant7 20 rs2072961
dbSNP Clinvar 		1099666 1490.33 G C PASS 1/1 43 MOTIF[MA0095.1:Yy1] LOW None 0.73003 0.73000 None None None None None None PSMF1|0.201334889|36.61%
View combined sample_43.variant7 3 rs62234703
dbSNP Clinvar 		31574258 84.06 A C PASS 0/1 19 MOTIF[MA0095.1:Yy1] MODIFIER None 0.20008 0.20010 None None None None None None STT3B|0.425372304|19.32%
View combined sample_43.variant7 15 rs4374117
dbSNP Clinvar 		63340647 2247.68 A G PASS 1/1 52 MOTIF[MA0095.1:Yy1] LOW None 0.99361 0.99360 None None None None None None TPM1|0.978525529|1.5%
View combined sample_43.variant7 17 rs3859189
dbSNP Clinvar 		38137033 964.03 A G PASS 1/1 55 MOTIF[MA0095.1:Yy1] LOW None 0.52536 0.52540 None None None None None None None
View combined sample_43.variant7 7 rs886062462
dbSNP Clinvar 		91570197 2131.82 T TGGC PASS 0/1 123 MOTIF[MA0095.1:Yy1] LOW None None None None None None None AKAP9|0.267262044|30.07%
View combined sample_43.variant7 8 rs13261590
dbSNP Clinvar 		123793984 236.99 T C PASS 1/1 14 MOTIF[MA0095.1:Yy1] MODIFIER None 0.88339 0.88340 None None None None None None ZHX2|0.985755188|1.26%
View combined sample_43.variant7 16 rs42139
dbSNP Clinvar 		21531609 5046.88 C T PASS 0/1 419 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
View combined sample_43.variant7 19 rs7260578
dbSNP Clinvar 		5910095 832.02 G A PASS 0/1 128 MOTIF[MA0095.1:Yy1] LOW None 0.56310 0.56310 None None None None None None VMAC|0.011245463|79.85%
View combined sample_43.variant7 21 rs772357297
dbSNP Clinvar 		11098685 2671.12 CT... C PASS 0/1 575 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
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