SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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OMIM:
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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

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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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: 15
Number of Genes: 3

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 042_tsvc_variants 17 rs7216
dbSNP Clinvar
19578873 25.91 A T PASS 0/1 12 SPLICE_SITE_REGION LOW None 0.67851 0.67850 0.44933 None None None None None None ALDH3A2|0.089181599|53.41%

CCNB1IP1

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 042_tsvc_variants 14 rs1132644
dbSNP Clinvar
20784718 137.81 G T PASS 0/1 100 SPLICE_SITE_REGION LOW None 0.59565 0.59560 0.42880 0.06 0.00 None None None None None None CCNB1IP1|0.349909331|24.13%

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 042_tsvc_variants 14 rs1127392
dbSNP Clinvar
74388908 56.2 T C PASS 0/1 25 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 042_tsvc_variants 3 rs9831075
dbSNP Clinvar
25836023 137.33 C T PASS 0/1 52 SPLICE_SITE_REGION LOW None 0.74101 0.74100 0.23543 None None None None None None OXSM|0.120851922|47.31%
View 042_tsvc_variants 7 rs3857756
dbSNP Clinvar
5800769 769.12 A G PASS 1/1 81 SPLICE_SITE_REGION LOW None 0.96486 0.96490 None None None None None None RNF216|0.202241405|36.49%
View 042_tsvc_variants 11 rs497681
dbSNP Clinvar
6807243 269.22 G A PASS 0/1 75 SPLICE_SITE_REGION LOW None 0.56590 0.56590 0.42089 None None None None None None OR2AG1|0.031854216|68.67%
View 042_tsvc_variants 11 rs1263505
dbSNP Clinvar
77811990 1158.42 T C PASS 1/1 120 SPLICE_SITE_REGION LOW None 0.83267 0.83270 0.11961 None None None None None None ALG8|0.271828489|29.77%
View 042_tsvc_variants 22 rs737868
dbSNP Clinvar
19747082 1360.03 G C PASS 1/1 145 SPLICE_SITE_REGION LOW None 0.62141 0.62140 None None None None None None TBX1|0.837458407|4.92%
View 042_tsvc_variants 4 rs1757935
dbSNP Clinvar
130023759 673.02 A T PASS 1/1 71 SPLICE_SITE_REGION LOW None 0.68271 0.68270 0.31301 None None None None None None C4orf33|0.075968961|56.1%
View 042_tsvc_variants 10 rs11014875
dbSNP Clinvar
26241025 127.99 T A PASS 0/1 52 SPLICE_SITE_REGION LOW None 0.07408 0.07408 0.09400 None None None None None None MYO3A|0.317182273|26.3%
View 042_tsvc_variants 19 rs3848623
dbSNP Clinvar
39522891 1264.98 T C PASS 1/1 135 SPLICE_SITE_REGION LOW None 0.42752 0.42750 None None None None None None FBXO27|0.001898899|91.25%
View 042_tsvc_variants 19 rs2659093
dbSNP Clinvar
51456005 109.99 T G PASS 0/1 37 SPLICE_SITE_REGION LOW None 0.50280 0.50280 None None None None None None KLK5|0.00235022|90.05%
View 042_tsvc_variants 7 rs11975640
dbSNP Clinvar
123610348 157.89 C T PASS 0/1 59 SPLICE_SITE_REGION LOW None 0.29892 0.29890 0.38683 None None None None None None SPAM1|0.001851125|91.41%
View 042_tsvc_variants 14 rs1138345
dbSNP Clinvar
56078739 41.05 T G PASS 0/1 30 SPLICE_SITE_REGION LOW None 0.25939 0.25940 0.26706 None None None None None None KTN1|0.249053961|31.59%
View 042_tsvc_variants 17 rs9904043
dbSNP Clinvar
27000391 820.11 A G PASS 1/1 86 SPLICE_SITE_REGION LOW None 0.77197 0.77200 0.25665 None None None None None None SUPT6H|0.667925783|9.44%
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