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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: 10
Number of Genes: 3

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 ns2-10 final 18 rs56181324
dbSNP Clinvar 		43678024 70.77 G A PASS 0/1 6 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 ns2-10 final 14 rs2273946
dbSNP Clinvar 		24458162 4064.77 G C PASS 1/1 131 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 ns2-10 final 17 rs8075276
dbSNP Clinvar 		73257986 1234.77 C T PASS 0/1 84 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 ns2-10 final 17 rs3785793
dbSNP Clinvar 		6659324 354.77 A G PASS 1/1 11 MOTIF[MA0095.1:Yy1] LOW None 0.60723 0.60720 0.46343 None None None None None None XAF1|0.002684279|89.28%
View ns2-10 final 16 rs42139
dbSNP Clinvar 		21531609 857.77 C T PASS 0/1 132 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
View ns2-10 final 15 rs4374117
dbSNP Clinvar 		63340647 425.77 A G PASS 1/1 15 MOTIF[MA0095.1:Yy1] LOW None 0.99361 0.99360 None None None None None None TPM1|0.978525529|1.5%
View ns2-10 final 21 rs772357297
dbSNP Clinvar 		11098685 296.77 CT... C MG_INDEL_Filter 0/1 216 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
View ns2-10 final 15 rs549428883
dbSNP Clinvar 		102264591 140.77 C A PASS 0/1 16 MOTIF[MA0095.1:Yy1] LOW None 0.00879 0.00879 None None None None None None TARSL2|0.080133214|55.14%
View ns2-10 final 20 rs2072961
dbSNP Clinvar 		1099666 361.77 G C PASS 1/1 10 MOTIF[MA0095.1:Yy1] LOW None 0.73003 0.73000 None None None None None None PSMF1|0.201334889|36.61%
View ns2-10 final 17 . 20435787 108.9 C T MG_SNP_Filter 1/1 5 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
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