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+ Genes 11

+ Genes associated with diseases 1

Genes at Omim

COG2,
COG2 ?Congenital disorder of glycosylation, type IIq, 617395 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 11

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 3 rs2170309
dbSNP Clinvar 		137843106 4477.9 T C . 0/1 138 SYNONYMOUS_STOP LOW None 0.65415 0.65420 0.33931 None None None None None None A4GNT|0.020635171|73.87%

C11orf45
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 11 rs11221503
dbSNP Clinvar 		128772452 3577.9 C T . 0/1 88 SYNONYMOUS_STOP LOW None 0.11761 0.11760 0.15684 None None None None None None KCNJ5|0.219304401|34.46%,C11orf45|0.000267075|99.55%

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 17 rs11079520
dbSNP Clinvar 		62079334 4490.9 A G . 0/1 81 SYNONYMOUS_STOP LOW None 0.24820 0.24820 None None None None None None PRR29|0.003440848|87.87%

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 1 rs1051038
dbSNP Clinvar 		230829139 1913.9 A G . 0/1 35 SYNONYMOUS_STOP LOW None 0.34465 0.34460 0.21359 None None None None None None COG2|0.130135468|45.85%

DDX55
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 12 rs3204541
dbSNP Clinvar 		124104686 13838.9 G A . 1/1 143 SYNONYMOUS_STOP LOW None 0.25220 0.25220 0.32324 None None None None None None DDX55|0.138519375|44.62%

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 17-11096s1 germline-multisample gatk annotated 17-11097s2 1 rs78667364
dbSNP Clinvar 		144828784 2133.94 A G . 0/1 104 SYNONYMOUS_STOP LOW None None None None None None None NBPF9|0.001397166|93.36%

PAQR6
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 1 rs7513351
dbSNP Clinvar 		156213921 10269.9 C T,* . 0/1 179 SYNONYMOUS_STOP LOW None 0.21925 0.21920 0.16231 0.00 0.02 2.55 None None None None None None PAQR6|0.040541685|65.62%

PTPRH
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 19 rs2288420
dbSNP Clinvar 		55693123 6175.9 T C . 0/1 86 SYNONYMOUS_STOP LOW None 0.14397 0.14400 0.04629 None None None None None None PTPRH|0.001001705|95.42%

SPOCK3
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 4 rs1057377
dbSNP Clinvar 		167656073 2996.9 C T . 0/1 86 SYNONYMOUS_STOP LOW None 0.12899 0.12900 0.18984 None None None None None None SPOCK3|0.107600954|49.67%

TMIGD2
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 19 rs888932
dbSNP Clinvar 		4292597 9828.88 C T . 0/1 109 SYNONYMOUS_STOP LOW None 0.46046 0.46050 0.41981 None None None None None None TMIGD2|0.000488929|98.49%

UPK2
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 17-11096s1 germline-multisample gatk annotated 17-11097s2 11 rs623500
dbSNP Clinvar 		118828942 3971.9 A G . 0/1 90 SYNONYMOUS_STOP LOW None 0.24082 0.24080 0.23464 None None None None None None UPK2|0.095892889|51.96%
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