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+ Genes 11

+ Genes associated with diseases 2

Genes at Omim

COL18A1, POR,
COL18A1 Knobloch syndrome, type 1, 267750 (3)
POR Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)

Genes at Clinical Genomics Database

COL18A1, POR,
COL18A1 Knobloch syndrome 1
POR Antley-Bixler syndrome
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency

Genes at HGMD

Summary

Number of Variants: 23
Number of Genes: 11

Export to: CSV
  • Page 1 of 1

ABCA2
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 el-exome_s1 9 rs2271862
dbSNP Clinvar 		139906359 602.55 G A LowGQ 0/1 31 SYNONYMOUS_CODING LOW None 0.68730 0.68730 0.32231 None None None None None None ABCA2|0.074227496|56.47%

COL18A1
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 el-exome_s1 21 rs11702494
dbSNP Clinvar 		46876306 128.58 G A LowGQ 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.20088 0.20090 0.25340 0.57 0.00 None None None None None None COL18A1|0.045578537|64.02%

ENTPD2
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 el-exome_s1 9 rs2292925
dbSNP Clinvar 		139945363 123.1 G A LowGQ 0/1 10 SYNONYMOUS_CODING LOW None 0.21905 0.21900 0.17893 None None None None None None ENTPD2|0.020384427|73.98%

FBLL1
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 el-exome_s1 5 rs12654410
dbSNP Clinvar 		167957055 134.04 G A LowGQ 0/1 10 SYNONYMOUS_CODING LOW None 0.30192 0.30190 0.20646 None None None None None None FBLL1|0.032150773|68.54%

LILRA4
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 el-exome_s1 19 rs7256494
dbSNP Clinvar 		54849481 114.49 T G LowGQ 0/1 8 SYNONYMOUS_CODING LOW None 0.38958 0.38960 0.39966 None None None None None None LILRA4|0.000558203|98.12%

LRRC4B
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 el-exome_s1 19 rs61751956
dbSNP Clinvar 		51020903 134.03 A G LowGQ 0/1 10 SYNONYMOUS_CODING LOW None 0.25120 0.25120 0.33372 None None None None None None LRRC4B|0.051553793|62.17%

MUC4
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 el-exome_s1 3 rs868408725
dbSNP Clinvar 		195506185 31.47 G A LowGQ 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.64 0.11 None None None None None None MUC4|0.005441696|85.29%
View el-exome_s1 3 rs79461778
dbSNP Clinvar 		195514379 123.1 T C LowGQ 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.51 0.22 None None None None None None MUC4|0.005441696|85.29%

OR5P3
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 el-exome_s1 11 rs1482793
dbSNP Clinvar 		7847472 128.58 C T LowGQ 0/1 9 SYNONYMOUS_CODING LOW None 0.44389 0.44390 0.46502 None None None None None None OR5P3|0.002347739|90.06%

POLI
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 el-exome_s1 18 rs10584411,rs763063557,rs3729509
dbSNP Clinvar 		51795957 451.38 GCGA G LowGQ 1/1 10 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.78395 0.78390 0.23883 None None None None None None POLI|0.500737847|15.78%

POR
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 el-exome_s1 7 rs1057870
dbSNP Clinvar 		75615287 119.94 G A LowGQ 0/1 9 SYNONYMOUS_CODING LOW None 0.19529 0.19530 0.28530 None None None None None None POR|0.031075792|68.94%

TMEM132C
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 el-exome_s1 12 rs11059841
dbSNP Clinvar 		129190021 809.37 A G LowGQ 1/1 33 SYNONYMOUS_CODING LOW None 0.97883 0.97880 0.02146 None None None None None None TMEM132C|0.016179262|76.34%
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 el-exome_s1 8 rs75781905
dbSNP Clinvar 		120886054 119.94 C A LowGQ 0/1 8 None None None 0.06609 0.06609 0.06561 None None None None None None DEPTOR|0.243075737|32.18%
View el-exome_s1 16 rs3809641
dbSNP Clinvar 		89574166 125.38 C G LowGQ 0/1 9 None None None 0.51178 0.51180 None None None None None None SPG7|0.052707902|61.82%
View el-exome_s1 22 rs12329956
dbSNP Clinvar 		38535946 128.58 G A LowGQ 0/1 11 None None None 0.27975 0.27980 0.28792 None None None None None None PLA2G6|0.209948636|35.59%
View el-exome_s1 3 rs34645149,rs397800189
dbSNP Clinvar 		130734887 1813.16 G GT LowGQ 1/1 100 None None None None None None None None None ATP2C1|0.628730902|10.83%,ASTE1|0.04522067|64.16%
View el-exome_s1 7 rs4719687
dbSNP Clinvar 		22242535 128.58 T C LowGQ 0/1 9 None None None 0.53075 0.53080 0.46108 None None None None None None RAPGEF5|0.388315025|21.51%
View el-exome_s1 1 rs192783463
dbSNP Clinvar 		6845564 109.51 G A LowGQ 0/1 9 None None None 0.03714 0.03714 0.05854 None None None None None None CAMTA1|0.951338773|2.22%
View el-exome_s1 14 rs71120197,rs398077964,rs398026190
dbSNP Clinvar 		92264080 348.34 TA T LowGQ 1/1 18 None None None 0.71026 0.71030 None None None None None None TC2N|0.162817659|41.17%
View el-exome_s1 14 rs1956726
dbSNP Clinvar 		101439916 128.58 T G LowGQ 0/1 10 None None None 0.49341 0.49340 0.40042 None None None None None None None
View el-exome_s1 17 rs13341114
dbSNP Clinvar 		62025238 116.76 G T LowGQ 0/1 8 None None None 0.25439 0.25440 0.26366 None None None None None None SCN4A|0.296782735|27.91%
View el-exome_s1 14 rs55748911
dbSNP Clinvar 		74394674 134.04 G A LowGQ 0/1 10 None None None 0.22844 0.22840 None None None None None None ZNF410|0.342720036|24.64%
View el-exome_s1 1 rs747818869
dbSNP Clinvar 		10041298 73.01 AT A LowGQ 0/1 7 None None None None None None None None None NMNAT1|0.04956483|62.8%
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