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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 4

Genes:
ADH1B, HELQ, KIT, PHOX2B,

+ Genes associated with diseases 3

Genes at Omim

ADH1B, KIT, PHOX2B,
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, somatic, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mastocytosis, cutaneous, 154800 (3)
Mastocytosis, systemic, somatic, 154800 (3)
Piebaldism, 172800 (3)
PHOX2B Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)
{Neuroblastoma, susceptibility to, 2}, 613013 (3)
Neuroblastoma with Hirschsprung disease, 613013 (3)

Genes at Clinical Genomics Database

KIT, PHOX2B,
KIT Gastrointestinal stromal tumor
PHOX2B Central hypoventilation syndrome, congenital
Neuroblastoma with Hirschsprung disease
Neuroblastoma, susceptiblity to, 2

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 4

Export to: CSV
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ADH1B
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 larissa_s11 4 rs1229984
dbSNP Clinvar 		100239319 100.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None ADH1B|0.074839204|56.32%

HELQ
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 larissa_s11 4 rs1494961
dbSNP Clinvar 		84374480 100.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.66454 0.66450 0.40558 1.00 0.00 None None None None None None HELQ|0.057496382|60.56%

KIT
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 larissa_s11 4 rs55717477
dbSNP Clinvar 		55598083 100.0 C T PASS 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None KIT|0.689603428|8.78%

PHOX2B
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 larissa_s11 4 . 41748034 100.0 C T SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%
View larissa_s11 4 . 41748037 100.0 C G SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%
View larissa_s11 4 rs757355779
dbSNP Clinvar 		41748043 100.0 T C SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%
View larissa_s11 4 . 41747944 25.0 G A LowGQ 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%
View larissa_s11 4 . 41748043 65.0 T G SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%
View larissa_s11 4 . 41748034 68.0 C G SB 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None PHOX2B|0.180277382|39.01%
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 larissa_s11 4 rs7679673
dbSNP Clinvar 		106061534 100.0 C A PASS 0/1 0 None None None 0.59165 0.59170 None None None None None None None
View larissa_s11 4 rs798766
dbSNP Clinvar 		1734239 100.0 T C PASS 1/1 0 None None None 0.76258 0.76260 None None None None None None None
View larissa_s11 4 rs12500426
dbSNP Clinvar 		95514609 100.0 A C PASS 0/1 0 None None None 0.47804 0.47800 None None None None None None PDLIM5|0.641612713|10.4%
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