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+ Genes 5

Genes:
C6, ITPR1, PRKDC, RNF213, VSIG4,

+ Genes associated with diseases 4

Genes at Omim

C6, ITPR1, PRKDC, RNF213,
C6 C6 deficiency, 612446 (3)
Combined C6/C7 deficiency (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)

Genes at Clinical Genomics Database

C6, ITPR1, PRKDC, RNF213,
C6 Complement component 6 deficiency
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RNF213 Moyamoya disease 2

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 5

Export to: CSV
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C6
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 eb409_unique 5 rs145422926
dbSNP Clinvar 		41203190 3216.25 C T PASS 0/1 161 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00031 0.01 0.60 None None None None None None C6|0.050272819|62.58%

ITPR1
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 eb409_unique 3 . 4777036 937.78 C A PASS 0/1 70 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01 0.24 None None None None None None None

PRKDC
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 eb409_unique 8 rs767043347
dbSNP Clinvar 		48749978 1091.78 A G PASS 0/1 99 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00 None None None None None None PRKDC|0.642781418|10.36%

RNF213
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 eb409_unique 17 rs147785564
dbSNP Clinvar 		78323570 1276.26 A G PASS 0/1 51 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00180 0.00180 0.00215 0.06 None None None None None None RNF213|0.001313454|93.8%

VSIG4
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 eb409_unique X rs753786786
dbSNP Clinvar 		65253316 793.77 G A PASS 0/1 69 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.43 0.02 None None None None None None VSIG4|0.036250013|67.02%
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