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+ Genes 9

+ Genes associated with diseases 2

Genes at Omim

CEACAM16, COG2,
CEACAM16 Deafness, autosomal dominant 4B, 614614 (3)
COG2 ?Congenital disorder of glycosylation, type IIq, 617395 (3)

Genes at Clinical Genomics Database

CEACAM16,
CEACAM16 Deafness, autosomal dominant 4B

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 9

Export to: CSV
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A4GNT
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 3 rs2170309
dbSNP Clinvar 		137843106 329.21 T C PASS 1|1 7 SYNONYMOUS_STOP LOW None 0.65415 0.65420 0.33931 None None None None None None A4GNT|0.020635171|73.87%

C17orf72
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 17 rs11079520
dbSNP Clinvar 		62079334 1305.16 A G PASS 1|0 43 SYNONYMOUS_STOP LOW None 0.24820 0.24820 None None None None None None PRR29|0.003440848|87.87%

CABS1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 4 rs13039
dbSNP Clinvar 		71201943 597.16 A G PASS 0|1 22 SYNONYMOUS_STOP LOW None 0.19788 0.19790 0.16933 None None None None None None CABS1|0.003869686|87.19%

CEACAM16
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 19 rs146757817
dbSNP Clinvar 		45213778 459.13 A G PASS 0|1 68 SYNONYMOUS_STOP LOW None 0.00919 0.00919 0.01319 None None None None None None CEACAM16|0.066749187|58.2%

COG2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 1 rs1051038
dbSNP Clinvar 		230829139 763.16 A G PASS 1|0 28 SYNONYMOUS_STOP LOW None 0.34465 0.34460 0.21359 None None None None None None COG2|0.130135468|45.85%

DAD1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 14 rs1051154
dbSNP Clinvar 		23044004 1429.92 C T PASS 0/1 37 SYNONYMOUS_STOP LOW None 0.09185 0.09185 0.10741 None None None None None None DAD1|0.762075801|6.8%

HDAC7
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 12 rs7306788
dbSNP Clinvar 		48177906 1918.16 C T PASS 1|0 89 SYNONYMOUS_STOP LOW None 0.07149 0.07149 0.13901 None None None None None None HDAC7|0.157662345|41.92%

KCNJ12
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 17 rs76506689
dbSNP Clinvar 		21319955 777.92 G A PASS 0/1 54 SYNONYMOUS_STOP LOW None None None None None None None KCNJ12|0.437556296|18.82%

NBPF9
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 1 rs78667364
dbSNP Clinvar 		144828784 815.92 A G HARD_TO_VALIDATE 0/1 150 SYNONYMOUS_STOP LOW None None None None None None None NBPF9|0.001397166|93.36%
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