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

ALDH3A2,
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)

Genes at Clinical Genomics Database

ALDH3A2,
ALDH3A2 Sjogren-Larsson syndrome

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

ALDH3A2

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 24_genetics_snv_99 8 slt 17 rs7216
dbSNP Clinvar
19578873 566.77 A T PASS 0/1 47 SPLICE_SITE_REGION LOW None 0.67851 0.67850 0.44933 None None None None None None ALDH3A2|0.089181599|53.41%

ZNF410

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 24_genetics_snv_99 8 slt 14 rs1127392
dbSNP Clinvar
74388908 1139.77 T C PASS 0/1 102 SPLICE_SITE_REGION LOW None 0.22804 0.22800 0.34015 None None None None None None ZNF410|0.342720036|24.64%
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 24_genetics_snv_99 8 slt 1 rs74520550
dbSNP Clinvar
155006450 901.77 C A PASS 0/1 34 SPLICE_SITE_REGION LOW None 0.11661 0.11660 0.17915 None None None None None None DCST1|0.042081714|65.1%
View 24_genetics_snv_99 8 slt 10 rs9665610
dbSNP Clinvar
116008464 1390.77 T A PASS 1/1 48 SPLICE_SITE_REGION LOW None 0.08327 0.08327 0.09234 None None None None None None VWA2|0.096363159|51.86%
View 24_genetics_snv_99 8 slt 17 rs9904043
dbSNP Clinvar
27000391 877.77 A G PASS 0/1 78 SPLICE_SITE_REGION LOW None 0.77197 0.77200 0.25665 None None None None None None SUPT6H|0.667925783|9.44%
View 24_genetics_snv_99 8 slt 19 rs3848623
dbSNP Clinvar
39522891 1851.77 T C PASS 1/1 61 SPLICE_SITE_REGION LOW None 0.42752 0.42750 None None None None None None FBXO27|0.001898899|91.25%
View 24_genetics_snv_99 8 slt 4 rs1757935
dbSNP Clinvar
130023759 897.77 A T PASS 0/1 82 SPLICE_SITE_REGION LOW None 0.68271 0.68270 0.31301 None None None None None None C4orf33|0.075968961|56.1%
View 24_genetics_snv_99 8 slt 11 rs1263505
dbSNP Clinvar
77811990 1598.77 T C PASS 1/1 51 SPLICE_SITE_REGION LOW None 0.83267 0.83270 0.11961 None None None None None None ALG8|0.271828489|29.77%
View 24_genetics_snv_99 8 slt 7 rs11975640
dbSNP Clinvar
123610348 731.77 C T PASS 0/1 70 SPLICE_SITE_REGION LOW None 0.29892 0.29890 0.38683 None None None None None None SPAM1|0.001851125|91.41%
  • Page 1 of 1