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, HLA-DPB1,
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)
HLA-DPB1 {Beryllium disease, chronic, susceptibility to} (3)

Genes at Clinical Genomics Database

ALDH3A2,
ALDH3A2 Sjogren-Larsson syndrome

Genes at HGMD

Summary

Number of Variants: 45
Number of Genes: 8

Export to: CSV

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 mm170241ct 17 rs7216
dbSNP
19578873 2643.77 A T . 0/1 204 SPLICE_SITE_REGION LOW 0.67851 0.67850 0.44933 None None None None None None None

CCDC74B

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 mm170241ct 2 rs2292302,rs60152285
dbSNP
130902194 169.77 C T . 0/1 47 SPLICE_SITE_REGION LOW 0.44369 0.44370 0.16 0.63 None None None None None None None

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 mm170241ct 14 rs1132644
dbSNP
20784718 773.77 G T . 0/1 63 SPLICE_SITE_REGION LOW 0.59565 0.59560 0.42880 0.06 0.00 None None None None None None None

HLA-DPB1

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 mm170241ct 6 rs1126506
dbSNP
33048459 334.77 T G . 0/1 43 SPLICE_SITE_REGION LOW 0.39916 0.39920 0.28536 None None None None None None None

RARRES2

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 mm170241ct 7 rs4721
dbSNP
150035526 287.77 T G . 0/1 19 SPLICE_SITE_REGION LOW 0.47863 0.47860 0.52 0.00 None None None None None None None

TLR8

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 mm170241ct X rs3764880
dbSNP
12924826 3948.77 A G . 1/1 119 SPLICE_SITE_REGION LOW 0.46384 0.46380 0.25343 0.32 0.00 None None None None None None None

TNS3

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 mm170241ct 7 rs11763044
dbSNP
47481602 1476.77 G A . 0/1 129 SPLICE_SITE_REGION LOW 0.34944 0.34940 0.04 0.61 None None None None None None None

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 mm170241ct 14 rs1127392
dbSNP
74388908 633.77 T C . 0/1 43 SPLICE_SITE_REGION LOW 0.22804 0.22800 0.34015 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 mm170241ct 17 rs7214366
dbSNP
16340316 597.77 A C . 1/1 17 SPLICE_SITE_REGION LOW 0.27516 0.27520 None None None None None None None
View mm170241ct 17 rs2243093
dbSNP
4835895 309.77 T C . 0/1 35 SPLICE_SITE_REGION LOW 0.18750 0.18750 0.14990 None None None None None None None
View mm170241ct 15 rs1107179
dbSNP
85198362 783.77 G T . 1/1 24 SPLICE_SITE_REGION LOW 0.72664 0.72660 None None None None None None None
View mm170241ct 14 rs3815500
dbSNP
73404680 1919.77 A C . 1/1 53 SPLICE_SITE_REGION LOW 0.23802 0.23800 0.15601 None None None None None None None
View mm170241ct 14 rs698028
dbSNP
62120575 706.77 C T . 1/1 20 SPLICE_SITE_REGION LOW 0.51418 0.51420 None None None None None None None
View mm170241ct 12 rs73417486
dbSNP
125398319 1957.77 G A . 0/1 130 SPLICE_SITE_REGION LOW 0.02616 0.02616 0.03060 None None None None None None None
View mm170241ct 11 rs11219362
dbSNP
123811344 854.77 C T . 0/1 47 SPLICE_SITE_REGION LOW 0.19768 0.19770 None None None None None None None
View mm170241ct 11 rs1263505
dbSNP
77811990 2350.77 T C . 1/1 64 SPLICE_SITE_REGION LOW 0.83267 0.83270 0.11961 None None None None None None None
View mm170241ct 11 rs3741245
dbSNP
62105441 23.79 T C LowQual 0/1 11 SPLICE_SITE_REGION LOW 0.28255 0.28250 0.25620 None None None None None None None
View mm170241ct 11 rs751483404
dbSNP
60107435 807.77 T C . 0/1 65 SPLICE_SITE_REGION LOW None None None None None None None
View mm170241ct 11 rs11523504
dbSNP
55861760 73.77 A G . 0/1 5 SPLICE_SITE_REGION LOW 0.23103 0.23100 None None None None None None None
View mm170241ct 11 rs497681
dbSNP
6807243 599.77 G A . 0/1 59 SPLICE_SITE_REGION LOW 0.56590 0.56590 0.42089 None None None None None None None
View mm170241ct 11 rs2289921
dbSNP
8496611 456.77 G C . 1/1 12 SPLICE_SITE_REGION LOW 0.40276 0.40280 None None None None None None None
View mm170241ct 10 rs11597439
dbSNP
104184953 198.77 C G . 0/1 17 SPLICE_SITE_REGION LOW 0.28435 0.28430 0.27606 None None None None None None None
View mm170241ct 10 rs1459996
dbSNP
61007534 4531.77 A G . 1/1 124 SPLICE_SITE_REGION LOW 0.73522 0.73520 0.26865 None None None None None None None
View mm170241ct 8 rs113442835,rs377076255
dbSNP
145998499 641.73 TT... T . 0/1 23 SPLICE_SITE_REGION LOW 0.08686 0.08686 None None None None None None None
View mm170241ct 7 rs1269634
dbSNP
107880612 155.77 A G . 0/1 17 SPLICE_SITE_REGION LOW 0.45168 0.45170 None None None None None None None
View mm170241ct 7 rs11975640
dbSNP
123610348 1570.77 C T . 0/1 129 SPLICE_SITE_REGION LOW 0.29892 0.29890 0.38683 None None None None None None None
View mm170241ct 7 rs137910416
dbSNP
100486285 1401.77 G T . 0/1 103 SPLICE_SITE_REGION LOW 0.00659 0.00659 None None None None None None None
View mm170241ct 7 rs3857756
dbSNP
5800769 2405.77 A G . 1/1 71 SPLICE_SITE_REGION LOW 0.96486 0.96490 None None None None None None None
View mm170241ct 5 rs2563298
dbSNP
140011315 244.77 C A . 0/1 13 SPLICE_SITE_REGION LOW 0.20807 0.20810 None None None None None None None
View mm170241ct 4 rs3775296
dbSNP
186997767 1645.77 C A . 0/1 135 SPLICE_SITE_REGION LOW 0.18171 0.18170 0.18307 None None None None None None None
View mm170241ct 4 rs1757935
dbSNP
130023759 4759.77 A T . 1/1 147 SPLICE_SITE_REGION LOW 0.68271 0.68270 0.31301 None None None None None None None
View mm170241ct 4 rs2070951
dbSNP
149358014 2317.77 G C . 1/1 63 SPLICE_SITE_REGION LOW 0.50080 0.50080 0.39743 None None None None None None None
View mm170241ct 3 rs3765005
dbSNP
150377674 978.77 C G . 0/1 61 SPLICE_SITE_REGION LOW 0.04692 0.04692 0.03260 None None None None None None None
View mm170241ct 3 rs9831075
dbSNP
25836023 2120.77 C T . 1/1 58 SPLICE_SITE_REGION LOW 0.74101 0.74100 0.23543 None None None None None None None
View mm170241ct 2 rs56038849
dbSNP
89156675 142.8 C T . 0/1 6 SPLICE_SITE_REGION LOW 0.08167 0.08167 None None None None None None None
View mm170241ct 1 rs4244184
dbSNP
248486895 5557.77 G T . 1/1 158 SPLICE_SITE_REGION LOW 0.82528 0.82530 0.22135 None None None None None None None
View mm170241ct 1 rs3738250
dbSNP
200843305 375.77 G T . 0/1 21 SPLICE_SITE_REGION LOW 0.19349 0.19350 None None None None None None None
View mm170241ct 1 rs9326115
dbSNP
75036783 1182.77 T C . 1/1 36 SPLICE_SITE_REGION LOW 0.97504 0.97500 0.02768 None None None None None None None
View mm170241ct 22 rs737868
dbSNP
19747082 128.77 G C . 0/1 13 SPLICE_SITE_REGION LOW 0.62141 0.62140 None None None None None None None
View mm170241ct 19 rs116423890
dbSNP
57176611 1194.77 G C . 0/1 78 SPLICE_SITE_REGION LOW 0.00339 0.00340 0.00375 None None None None None None None
View mm170241ct 19 rs2659093
dbSNP
51456005 171.77 T G . 0/1 14 SPLICE_SITE_REGION LOW 0.50280 0.50280 None None None None None None None
View mm170241ct 19 rs3848623
dbSNP
39522891 148.77 T C . 0/1 10 SPLICE_SITE_REGION LOW 0.42752 0.42750 None None None None None None None
View mm170241ct 17 rs140438341
dbSNP
79784391 30.77 C T . 0/1 5 SPLICE_SITE_REGION LOW 0.20008 0.20010 None None None None None None None
View mm170241ct 17 rs12949907
dbSNP
27224799 116.78 T C . 0/1 5 SPLICE_SITE_REGION LOW 0.20308 0.20310 None None None None None None None
View mm170241ct 17 rs9904043
dbSNP
27000391 457.77 A G . 0/1 39 SPLICE_SITE_REGION LOW 0.77197 0.77200 0.25665 None None None None None None None