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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
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 GROUPS:

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GENE LIST:
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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

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
SLC22A12,

+ Genes associated with diseases 1

Genes at Omim

SLC22A12,
SLC22A12 Hypouricemia, renal, 220150 (3)

Genes at Clinical Genomics Database

SLC22A12,
SLC22A12 Hypouricemia, renal 1

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 1

Export to: CSV
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SLC22A12
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 mp91583 both 11 rs755253783
dbSNP Clinvar 		64359236 1530.77 G A . 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.51 0.01 None None None None None None SLC22A12|0.008752586|81.91%
View mp91583 both 11 rs3825016
dbSNP Clinvar 		64359286 581.77 C T . 0/1 64 SYNONYMOUS_CODING LOW None 0.38718 0.38720 0.46167 None None None None None None SLC22A12|0.008752586|81.91%
View mp91583 both 11 rs11231825
dbSNP Clinvar 		64360274 1564.77 T C . 0/1 120 SYNONYMOUS_CODING LOW None 0.38598 0.38600 0.46384 None None None None None None SLC22A12|0.008752586|81.91%
View mp91583 both 11 rs7932775
dbSNP Clinvar 		64367862 822.77 T C . 0/1 58 SYNONYMOUS_CODING LOW None 0.39736 0.39740 0.31882 None None None None None None SLC22A12|0.008752586|81.91%
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