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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
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+ Genes 1

Genes:
ACO1,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 21
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

ACO1
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 v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs3780473
dbSNP Clinvar 		32425910 2733.16 A G PASS 1/1 285 SYNONYMOUS_CODING LOW None 0.35383 0.35380 0.32693 None None None None None None None
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 v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs2026739
dbSNP Clinvar 		32418237 1671.11 G T PASS 1/1 177 None None None 0.66094 0.66090 0.32485 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs3814521
dbSNP Clinvar 		32424353 306.111 G C PASS 1/1 33 None None None 0.65595 0.65600 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs3814520
dbSNP Clinvar 		32424362 296.799 G A PASS 1/1 32 None None None 0.23762 0.23760 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs3780474
dbSNP Clinvar 		32425676 158.921 T G PASS 1/1 17 None None None 0.42432 0.42430 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs12985
dbSNP Clinvar 		32450187 2863.94 T C PASS 1/1 297 None None None 0.39796 0.39800 0.40530 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs2375965
dbSNP Clinvar 		32427600 101.957 A G PASS 1/1 11 None None None 0.91733 0.91730 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs10970975
dbSNP Clinvar 		32431931 1049.41 A G PASS 1/1 109 None None None 0.35563 0.35560 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs10970976
dbSNP Clinvar 		32433526 34.4943 T C PASS 0/1 6 None None None 0.34066 0.34070 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs7855113
dbSNP Clinvar 		32433965 1145.8 T C PASS 1/1 119 None None None 0.87480 0.87480 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs2068116
dbSNP Clinvar 		32435978 1003.32 C T PASS 1/1 106 None None None 0.34105 0.34110 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs7022554
dbSNP Clinvar 		32436014 928.467 A G PASS 1/1 97 None None None 0.56230 0.56230 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs10813817
dbSNP Clinvar 		32448745 61.4032 T C PASS 1/1 7 None None None 0.38658 0.38660 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs10813818
dbSNP Clinvar 		32449244 1181.74 T C PASS 1/1 124 None None None 0.56110 0.56110 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs663367
dbSNP Clinvar 		136153451 1000.7 A G PASS 1/1 105 None None None 0.72264 0.72260 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs552148
dbSNP Clinvar 		136153481 1000.76 T C PASS 1/1 105 None None None 0.72165 0.72160 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs651007
dbSNP Clinvar 		136153875 659.397 C T PASS 0/1 346 None None None 0.16134 0.16130 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs11244061
dbSNP Clinvar 		136153981 1168.17 C T PASS 0/1 531 None None None 0.03814 0.03814 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs579459
dbSNP Clinvar 		136154168 756.014 T C PASS 0/1 158 None None None 0.16134 0.16130 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs913762
dbSNP Clinvar 		32384843 1722.34 A C PASS 1/1 178 None None None 0.79713 0.79710 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 9 rs649129
dbSNP Clinvar 		136154304 735.199 C T PASS 1/1 84 None None None 0.16134 0.16130 None None None None None None None
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