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+ Genes 4

Genes:
ATP5A1, DHRS4L2, DLC1, MRPS7,

+ Genes associated with diseases 3

Genes at Omim

ATP5A1, DLC1, MRPS7,
ATP5A1 ?Combined oxidative phosphorylation deficiency 22, 616045 (3)
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3)
DLC1 Colorectal cancer, somatic, 114500 (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: 4

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 snps raw 18 rs56181324
dbSNP Clinvar 		43678024 1585.77 G A . 1/1 43 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 snps raw 14 rs2273946
dbSNP Clinvar 		24458162 837.77 G C . 0/1 60 MOTIF[MA0095.1:Yy1] LOW None 0.67392 0.67390 0.48408 0.95 0.00 -2.83 None None None None None None DHRS4L2|0.007168249|83.32%

DLC1
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 snps raw 8 rs144792804
dbSNP Clinvar 		13133881 1483.77 G T . 0/1 119 MOTIF[MA0095.1:Yy1] LOW None 0.02776 0.02776 0.51 0.00 2.03 None None None None None None DLC1|0.140256235|44.36%

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 snps raw 17 rs8075276
dbSNP Clinvar 		73257986 2652.77 C T . 1/1 79 MOTIF[MA0095.1:Yy1] LOW None 0.65735 0.65730 0.34005 0.00 0.01 6.43 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 snps raw 15 rs4374117
dbSNP Clinvar 		63340647 2230.77 A G . 1/1 63 MOTIF[MA0095.1:Yy1] LOW None 0.99361 0.99360 None None None None None None TPM1|0.978525529|1.5%
View snps raw 2 . 114647955 53.77 C G . 0/1 6 MOTIF[MA0095.1:Yy1] MODIFIER None None None None None None None ACTR3|0.477276734|16.88%
View snps raw 20 rs2261177
dbSNP Clinvar 		25388186 478.77 G C . 0/1 37 MOTIF[MA0095.1:Yy1] MODIFIER None 0.84026 0.84030 None None None None None None None
View snps raw 5 rs4072852
dbSNP Clinvar 		77656300 1582.77 G C . 0/1 91 MOTIF[MA0095.1:Yy1] LOW None 0.30591 0.30590 None None None None None None None
View snps raw 14 rs4982710
dbSNP Clinvar 		23398902 72.78 C T . 0/1 4 MOTIF[MA0095.1:Yy1] LOW None 0.63199 0.63200 None None None None None None None
View snps raw 6 rs62390377
dbSNP Clinvar 		29895039 214.77 A C . 0/1 27 MOTIF[MA0095.1:Yy1] MODIFIER None 0.11981 0.11980 None None None None None None None
View snps raw 10 rs4980304
dbSNP Clinvar 		125319107 88.28 C A . 1/1 3 MOTIF[MA0095.1:Yy1] LOW None 0.89577 0.89580 None None None None None None None
View snps raw 20 rs2072961
dbSNP Clinvar 		1099666 2203.77 G C . 1/1 60 MOTIF[MA0095.1:Yy1] LOW None 0.73003 0.73000 None None None None None None PSMF1|0.201334889|36.61%
View snps raw 7 rs4342524
dbSNP Clinvar 		102082286 297.03 A G . 0/1 13 MOTIF[MA0095.1:Yy1] LOW None 0.47205 0.47200 None None None None None None ORAI2|0.274321728|29.57%
View snps raw 16 rs42139
dbSNP Clinvar 		21531609 1343.77 C T . 0/1 87 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
View snps raw 17 rs3785793
dbSNP Clinvar 		6659324 368.77 A G . 0/1 29 MOTIF[MA0095.1:Yy1] LOW None 0.60723 0.60720 0.46343 None None None None None None XAF1|0.002684279|89.28%
View snps raw 17 rs4788868
dbSNP Clinvar 		73127971 82.28 A T . 1/1 3 MOTIF[MA0095.1:Yy1] MODIFIER None 0.99760 0.99760 None None None None None None None
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