SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

BCKDHA,
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)

Genes at Clinical Genomics Database

BCKDHA,
BCKDHA Maple syrup urine disease, type Ia

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 1

Export to: CSV

BCKDHA

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 hp37_1_filt_10x 19 rs4674
dbSNP
41930396 462.77 A G PASS 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.61701 0.61700 0.32301 None None None None None None None
View hp37_1_filt_10x 19 rs3217385,rs398101222
dbSNP
41928867 176.73 G GC PASS 0/1 20 None None None 0.00060 0.61660 0.32630 None None None None None None None
View hp37_1_filt_10x 19 rs284652
dbSNP
41928652 228.77 C T PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.61641 0.61640 0.32393 None None None None None None None
View hp37_1_filt_10x 19 rs17173144
dbSNP
41903747 131.77 C T PASS 0/1 16 None None None 0.00439 0.00439 0.00031 None None None None None None None