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+ Genes 4

+ Genes associated with diseases 2

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: 40
Number of Genes: 4

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 mm200802avc 17 rs7216
dbSNP Clinvar 		19578873 3000.94 A T PASS 0/1 56 SPLICE_SITE_REGION LOW 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 mm200802avc 14 rs1132644
dbSNP Clinvar 		20784718 199.12 G T PASS 0/1 20 SPLICE_SITE_REGION LOW 0.59565 0.59560 0.42880 0.06 0.00 None None None None None None CCNB1IP1|0.349909331|24.13%

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 mm200802avc 6 rs1126506
dbSNP Clinvar 		33048459 13677.89 T G PASS 1|1 141 SPLICE_SITE_REGION LOW 0.39916 0.39920 0.28536 None None None None None None HLA-DPA1|0.007131154|83.36%,HLA-DPB1|0.007827013|82.73%

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 mm200802avc 7 rs11763044
dbSNP Clinvar 		47481602 3737.12 G A PASS 0/1 145 SPLICE_SITE_REGION LOW 0.34944 0.34940 0.04 0.23 None None None None None None TNS3|0.04703279|63.56%
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 mm200802avc 19 rs3848623
dbSNP Clinvar 		39522891 728.12 T C PASS 0/1 38 SPLICE_SITE_REGION LOW 0.42752 0.42750 None None None None None None FBXO27|0.001898899|91.25%
View mm200802avc 19 rs531235834
dbSNP Clinvar 		17434107 139.04 ATAAT A PASS 0/1 11 SPLICE_SITE_REGION LOW 0.00180 0.00180 None None None None None None DDA1|0.142110141|44.13%,ANO8|0.037387399|66.65%
View mm200802avc 17 rs7214366
dbSNP Clinvar 		16340316 1529.12 A C PASS 0/1 65 SPLICE_SITE_REGION LOW 0.27516 0.27520 None None None None None None TRPV2|0.108548021|49.45%
View mm200802avc 15 rs1107179
dbSNP Clinvar 		85198362 4052.69 G T PASS 1/1 52 SPLICE_SITE_REGION LOW 0.72664 0.72660 None None None None None None NMB|0.018539893|74.96%
View mm200802avc 14 rs1138345
dbSNP Clinvar 		56078739 2226.12 T G PASS 0/1 90 SPLICE_SITE_REGION LOW 0.25939 0.25940 0.26706 None None None None None None KTN1|0.249053961|31.59%
View mm200802avc 11 rs1263505
dbSNP Clinvar 		77811990 2673.91 T C PASS 0/1 73 SPLICE_SITE_REGION LOW 0.83267 0.83270 0.11961 None None None None None None ALG8|0.271828489|29.77%
View mm200802avc 11 rs11523504
dbSNP Clinvar 		55861760 725.12 A G PASS 0/1 26 SPLICE_SITE_REGION LOW 0.23103 0.23100 None None None None None None OR8I2|0.005200273|85.58%
View mm200802avc 7 rs11975640
dbSNP Clinvar 		123610348 3652.93 C T PASS 0/1 112 SPLICE_SITE_REGION LOW 0.29892 0.29890 0.38683 None None None None None None SPAM1|0.001851125|91.41%
View mm200802avc 7 rs1269634
dbSNP Clinvar 		107880612 108.4 A G PASS 0/1 5 SPLICE_SITE_REGION LOW 0.45168 0.45170 None None None None None None NRCAM|0.765632697|6.74%
View mm200802avc 7 rs3857756
dbSNP Clinvar 		5800769 1452.89 A G PASS 1|1 20 SPLICE_SITE_REGION LOW 0.96486 0.96490 None None None None None None RNF216|0.202241405|36.49%
View mm200802avc 4 rs1757935
dbSNP Clinvar 		130023759 8059.69 A T PASS 1/1 83 SPLICE_SITE_REGION LOW 0.68271 0.68270 0.31301 None None None None None None C4orf33|0.075968961|56.1%
View mm200802avc 19 rs2659093
dbSNP Clinvar 		51456005 2928.93 T G PASS 0|1 62 SPLICE_SITE_REGION LOW 0.50280 0.50280 None None None None None None KLK5|0.00235022|90.05%
View mm200802avc 1 rs3738250
dbSNP Clinvar 		200843305 3186.93 G T PASS 0/1 138 SPLICE_SITE_REGION LOW 0.19349 0.19350 None None None None None None GPR25|0.015523137|76.79%
View mm200802avc 17 rs9904043
dbSNP Clinvar 		27000391 2432.94 A G PASS 0/1 46 SPLICE_SITE_REGION LOW 0.77197 0.77200 0.25665 None None None None None None SUPT6H|0.667925783|9.44%
View mm200802avc 17 rs2243093
dbSNP Clinvar 		4835895 4098.91 T C PASS 1/1 68 SPLICE_SITE_REGION LOW 0.18750 0.18750 0.14990 None None None None None None GP1BA|0.002123985|90.66%
View mm200802avc 14 rs698028
dbSNP Clinvar 		62120575 8123.69 C T PASS 1/1 86 SPLICE_SITE_REGION LOW 0.51418 0.51420 None None None None None None None
View mm200802avc 12 . 21623284 1490.98 CA C PASS 0/1 15 SPLICE_SITE_REGION LOW None None None None None None PYROXD1|0.128105885|46.18%,RECQL|0.337413865|25.01%
View mm200802avc 11 rs11219362
dbSNP Clinvar 		123811344 359.25 C T PASS 0/1 25 SPLICE_SITE_REGION LOW 0.19768 0.19770 None None None None None None OR4D5|0.054444971|61.36%
View mm200802avc 10 rs1459996
dbSNP Clinvar 		61007534 2257.94 A G PASS 0/1 49 SPLICE_SITE_REGION LOW 0.73522 0.73520 0.26865 None None None None None None PHYHIPL|0.513316286|15.23%,FAM13C|0.181731447|38.82%
View mm200802avc 8 rs62495369
dbSNP Clinvar 		11872972 1027.93 C G PASS 0|1 63 SPLICE_SITE_REGION LOW None None None None None None None
View mm200802avc 4 rs2070951
dbSNP Clinvar 		149358014 1434.12 G C PASS 0/1 45 SPLICE_SITE_REGION LOW 0.50080 0.50080 0.39743 None None None None None None NR3C2|0.850524024|4.63%
View mm200802avc 1 rs4244184
dbSNP Clinvar 		248486895 10560.89 G T PASS 0/1 132 SPLICE_SITE_REGION LOW 0.82528 0.82530 0.22135 None None None None None None OR2M7|0.001481196|92.85%
View mm200802avc 22 rs737868
dbSNP Clinvar 		19747082 5996.92 G C PASS 1/1 86 SPLICE_SITE_REGION LOW 0.62141 0.62140 None None None None None None TBX1|0.837458407|4.92%
View mm200802avc 1 rs9326115
dbSNP Clinvar 		75036783 10348.69 T C PASS 1/1 119 SPLICE_SITE_REGION LOW 0.97504 0.97500 0.02768 None None None None None None ERICH3|0.0119525|79.27%
View mm200802avc 19 rs4806187
dbSNP Clinvar 		36149761 264.26 A G PASS 0/1 17 SPLICE_SITE_REGION LOW 0.66514 0.66510 None None None None None None COX6B1|0.289318881|28.4%
View mm200802avc 17 rs12949907
dbSNP Clinvar 		27224799 149.46 T C PASS 0/1 9 SPLICE_SITE_REGION LOW 0.20308 0.20310 None None None None None None DHRS13|0.096554269|51.81%
View mm200802avc 14 rs3815500
dbSNP Clinvar 		73404680 2048.91 A C PASS 1/1 46 SPLICE_SITE_REGION LOW 0.23802 0.23800 0.15601 None None None None None None DCAF4|0.051038025|62.35%
View mm200802avc 11 rs497681
dbSNP Clinvar 		6807243 8497.89 G A PASS 1/1 124 SPLICE_SITE_REGION LOW 0.56590 0.56590 0.42089 None None None None None None OR2AG1|0.031854216|68.67%
View mm200802avc 7 rs7780056
dbSNP Clinvar 		97613998 157.61 T A PASS 1/1 5 SPLICE_SITE_REGION LOW 0.29533 0.29530 None None None None None None OCM2|0.115058978|48.32%
View mm200802avc 6 rs9394693
dbSNP Clinvar 		40400868 2961.12 C T PASS 0|1 79 SPLICE_SITE_REGION LOW 0.13898 0.13900 0.08193 None None None None None None LRFN2|0.297221276|27.86%
View mm200802avc 5 rs778696299
dbSNP Clinvar 		173473737 859.25 G A PASS 0/1 79 SPLICE_SITE_REGION LOW None None None None None None None
View mm200802avc 5 rs9857
dbSNP Clinvar 		10680547 191.48 T C PASS 1/1 5 SPLICE_SITE_REGION LOW 0.37840 0.37840 None None None None None None DAP|0.02612368|71.27%
View mm200802avc 4 rs374857464
dbSNP Clinvar 		115748918 344.61 A AT PASS 1/1 11 SPLICE_SITE_REGION LOW None None None None None None None
View mm200802avc 4 . 2230075 141.01 CT C PASS 1/1 6 SPLICE_SITE_REGION LOW None None None None None None POLN|0.02012469|74.11%,HAUS3|0.12533021|46.58%
View mm200802avc 3 rs3765005
dbSNP Clinvar 		150377674 203.26 C G PASS 0/1 17 SPLICE_SITE_REGION LOW 0.04692 0.04692 0.03260 None None None None None None ERICH6|0.001365722|93.54%
View mm200802avc 3 rs112773801
dbSNP Clinvar 		71008341 1131.29 G GT PASS 0/1 102 SPLICE_SITE_REGION LOW 0.31969 0.31970 None None None None None None FOXP1|0.999953218|0.14%
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