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 CHR:

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EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 7

+ Genes associated with diseases 1

Genes at Omim

GM2A,
GM2A GM2-gangliosidosis, AB variant, 272750 (3)

Genes at Clinical Genomics Database

GM2A,
GM2A GM2-gangliosidosis, AB variant

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 7

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 7341maas0357_annotated 3 rs2170309
dbSNP Clinvar 		137843106 2708.77 T C PASS 1/1 86 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 7341maas0357_annotated 17 rs11079520
dbSNP Clinvar 		62079334 674.77 A G PASS 0/1 45 SYNONYMOUS_STOP LOW None 0.24820 0.24820 None None None None None None PRR29|0.003440848|87.87%

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 7341maas0357_annotated 12 rs3204541
dbSNP Clinvar 		124104686 3466.77 G A PASS 0/1 281 SYNONYMOUS_STOP LOW None 0.25220 0.25220 0.32324 None None None None None None DDX55|0.138519375|44.62%

GM2A
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 7341maas0357_annotated 5 rs1048723
dbSNP Clinvar 		150647012 2839.77 A G PASS 0/1 196 SYNONYMOUS_STOP LOW None 0.26558 0.26560 0.22913 None None None None None None GM2A|0.00525441|85.49%

IDI2
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 7341maas0357_annotated 10 rs17851563
dbSNP Clinvar 		1065458 784.77 C T PASS 0/1 71 SYNONYMOUS_STOP LOW None 0.01098 0.01098 0.02607 None None None None None None GTPBP4|0.204407833|36.18%,IDI2|0.000337441|99.25%

NUSAP1
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 7341maas0357_annotated 15 rs7168431
dbSNP Clinvar 		41672384 1201.77 A G PASS 0/1 81 SYNONYMOUS_STOP LOW None 0.11562 0.11560 0.19375 None None None None None None NUSAP1|0.064166774|58.84%

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 7341maas0357_annotated 19 rs888932
dbSNP Clinvar 		4292597 217.77 C T PASS 0/1 21 SYNONYMOUS_STOP LOW None 0.46046 0.46050 0.41981 None None None None None None TMIGD2|0.000488929|98.49%
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