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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: 44
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 mm180110lp 17 rs7216
dbSNP Clinvar 		19578873 57.77 A T . 0/1 32 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 mm180110lp 14 rs1132644
dbSNP Clinvar 		20784718 847.77 G T . 1/1 33 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%

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 mm180110lp 6 rs1126506
dbSNP Clinvar 		33048459 2157.77 T G . 0/1 218 SPLICE_SITE_REGION LOW None 0.39916 0.39920 0.28536 None None None None None None HLA-DPA1|0.007131154|83.36%,HLA-DPB1|0.007827013|82.73%

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 mm180110lp X rs3764880
dbSNP Clinvar 		12924826 1032.77 A G . 1/1 39 SPLICE_SITE_REGION LOW None 0.46384 0.46380 0.25343 0.32 0.00 None None None None None None TLR8|0.020704734|73.83%
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 mm180110lp 3 rs9831075
dbSNP Clinvar 		25836023 403.77 C T . 0/1 22 SPLICE_SITE_REGION LOW None 0.74101 0.74100 0.23543 None None None None None None OXSM|0.120851922|47.31%
View mm180110lp 7 rs7780056
dbSNP Clinvar 		97613998 130.77 T A . 0/1 8 SPLICE_SITE_REGION LOW None 0.29533 0.29530 None None None None None None OCM2|0.115058978|48.32%
View mm180110lp 7 rs11975640
dbSNP Clinvar 		123610348 751.77 C T . 0/1 87 SPLICE_SITE_REGION LOW None 0.29892 0.29890 0.38683 None None None None None None SPAM1|0.001851125|91.41%
View mm180110lp 11 rs497681
dbSNP Clinvar 		6807243 2377.77 G A . 1/1 89 SPLICE_SITE_REGION LOW None 0.56590 0.56590 0.42089 None None None None None None OR2AG1|0.031854216|68.67%
View mm180110lp 14 rs698028
dbSNP Clinvar 		62120575 2453.77 C T . 1/1 88 SPLICE_SITE_REGION LOW None 0.51418 0.51420 None None None None None None None
View mm180110lp 1 rs11589984
dbSNP Clinvar 		153043332 377.77 G A . 1/1 22 SPLICE_SITE_REGION LOW None None None None None None None SPRR2B|0.003812445|87.29%
View mm180110lp 17 rs145809511
dbSNP Clinvar 		44633014 35.74 G A . 1/1 53 SPLICE_SITE_REGION LOW None None None None None None None LRRC37A2|0.000531843|98.27%,ARL17A|0.01517681|77.02%
View mm180110lp 21 rs185407591
dbSNP Clinvar 		40178042 463.77 A G . 0/1 49 SPLICE_SITE_REGION LOW None 0.16334 0.16330 None None None None None None ETS2|0.453014646|18.03%
View mm180110lp 21 rs190801053
dbSNP Clinvar 		40178043 433.77 G C . 0/1 48 SPLICE_SITE_REGION LOW None 0.16314 0.16310 None None None None None None ETS2|0.453014646|18.03%
View mm180110lp 22 rs737868
dbSNP Clinvar 		19747082 3948.77 G C . 1/1 124 SPLICE_SITE_REGION LOW None 0.62141 0.62140 None None None None None None TBX1|0.837458407|4.92%
View mm180110lp 22 rs2010657
dbSNP Clinvar 		25003922 608.77 G A . 0/1 95 SPLICE_SITE_REGION LOW None None None None None None None SNRPD3|0.61591112|11.25%,GGT1|0.044291903|64.4%
View mm180110lp 15 rs1107179
dbSNP Clinvar 		85198362 407.77 G T . 0/1 54 SPLICE_SITE_REGION LOW None 0.72664 0.72660 None None None None None None NMB|0.018539893|74.96%
View mm180110lp 1 rs4244184
dbSNP Clinvar 		248486895 1365.77 G T . 0/1 102 SPLICE_SITE_REGION LOW None 0.82528 0.82530 0.22135 None None None None None None OR2M7|0.001481196|92.85%
View mm180110lp 1 rs74520550
dbSNP Clinvar 		155006450 296.77 C A . 0/1 31 SPLICE_SITE_REGION LOW None 0.11661 0.11660 0.17915 None None None None None None DCST1|0.042081714|65.1%
View mm180110lp 4 . 2230075 103.73 CT C . 0/1 19 SPLICE_SITE_REGION LOW None None None None None None None POLN|0.02012469|74.11%,HAUS3|0.12533021|46.58%
View mm180110lp 4 rs374857464
dbSNP Clinvar 		115748918 133.73 A AT . 0/1 13 SPLICE_SITE_REGION LOW None None None None None None None None
View mm180110lp 7 rs3857756
dbSNP Clinvar 		5800769 283.78 A G . 1/1 10 SPLICE_SITE_REGION LOW None 0.96486 0.96490 None None None None None None RNF216|0.202241405|36.49%
View mm180110lp 7 rs553882161
dbSNP Clinvar 		94989255 321.73 CT C . 0/1 41 SPLICE_SITE_REGION LOW None 0.43510 0.43510 None None None None None None PON1|0.345425216|24.46%
View mm180110lp 8 rs62495369
dbSNP Clinvar 		11872972 46.77 C G . 0/1 88 SPLICE_SITE_REGION LOW None None None None None None None None
View mm180110lp 10 rs1459996
dbSNP Clinvar 		61007534 348.77 A G . 1/1 11 SPLICE_SITE_REGION LOW None 0.73522 0.73520 0.26865 None None None None None None PHYHIPL|0.513316286|15.23%,FAM13C|0.181731447|38.82%
View mm180110lp 11 rs72851374
dbSNP Clinvar 		7686331 21.8 T A LowQual 0/1 8 SPLICE_SITE_REGION LOW None 0.23522 0.23520 None None None None None None CYB5R2|0.057621137|60.52%
View mm180110lp 11 rs2289921
dbSNP Clinvar 		8496611 126.03 G C . 1/1 4 SPLICE_SITE_REGION LOW None 0.40276 0.40280 None None None None None None STK33|0.074109929|56.51%
View mm180110lp 17 rs2243093
dbSNP Clinvar 		4835895 1675.77 T C . 0/1 101 SPLICE_SITE_REGION LOW None 0.18750 0.18750 0.14990 None None None None None None GP1BA|0.002123985|90.66%
View mm180110lp 17 rs9904043
dbSNP Clinvar 		27000391 1629.77 A G . 1/1 56 SPLICE_SITE_REGION LOW None 0.77197 0.77200 0.25665 None None None None None None SUPT6H|0.667925783|9.44%
View mm180110lp 19 rs3745469
dbSNP Clinvar 		50177171 155.77 G A . 0/1 23 SPLICE_SITE_REGION LOW None 0.07907 0.07907 None None None None None None BCL2L12|0.018682932|74.86%
View mm180110lp 1 rs9326115
dbSNP Clinvar 		75036783 3004.77 T C . 1/1 101 SPLICE_SITE_REGION LOW None 0.97504 0.97500 0.02768 None None None None None None ERICH3|0.0119525|79.27%
View mm180110lp 22 rs74701880
dbSNP Clinvar 		23482658 693.77 C T . 0/1 55 SPLICE_SITE_REGION LOW None 0.03315 0.03315 0.03360 None None None None None None RSPH14|0.01273033|78.69%
View mm180110lp 2 rs56038849
dbSNP Clinvar 		89156675 97.77 C T . 0/1 10 SPLICE_SITE_REGION LOW None 0.08167 0.08167 None None None None None None None
View mm180110lp 3 rs75800791
dbSNP Clinvar 		51863322 604.77 G A . 0/1 49 SPLICE_SITE_REGION LOW None 0.08087 0.08087 None None None None None None IQCF3|0.000498271|98.44%
View mm180110lp 4 rs1757935
dbSNP Clinvar 		130023759 776.77 A T . 0/1 64 SPLICE_SITE_REGION LOW None 0.68271 0.68270 0.31301 None None None None None None C4orf33|0.075968961|56.1%
View mm180110lp 4 rs3775296
dbSNP Clinvar 		186997767 422.77 C A . 0/1 36 SPLICE_SITE_REGION LOW None 0.18171 0.18170 0.18307 None None None None None None TLR3|0.269915833|29.89%
View mm180110lp 7 rs1269634
dbSNP Clinvar 		107880612 85.28 A G . 1/1 3 SPLICE_SITE_REGION LOW None 0.45168 0.45170 None None None None None None NRCAM|0.765632697|6.74%
View mm180110lp 11 rs11523504
dbSNP Clinvar 		55861760 253.77 A G . 0/1 24 SPLICE_SITE_REGION LOW None 0.23103 0.23100 None None None None None None OR8I2|0.005200273|85.58%
View mm180110lp 11 rs1263505
dbSNP Clinvar 		77811990 1407.77 T C . 1/1 49 SPLICE_SITE_REGION LOW None 0.83267 0.83270 0.11961 None None None None None None ALG8|0.271828489|29.77%
View mm180110lp 11 . 113146200 1416.73 GCACA G . 0/1 60 SPLICE_SITE_REGION LOW None None None None None None None NCAM1|0.995998055|0.75%
View mm180110lp 13 rs17790638
dbSNP Clinvar 		19761496 888.77 A G . 0/1 65 SPLICE_SITE_REGION LOW None 0.06470 0.06470 None None None None None None None
View mm180110lp 14 rs74062730
dbSNP Clinvar 		70991650 807.77 A C . 0/1 56 SPLICE_SITE_REGION LOW None 0.19309 0.19310 0.08770 None None None None None None ADAM20|0.000858397|96.3%
View mm180110lp 19 rs3848623
dbSNP Clinvar 		39522891 776.77 T C . 0/1 83 SPLICE_SITE_REGION LOW None 0.42752 0.42750 None None None None None None FBXO27|0.001898899|91.25%
View mm180110lp 1 rs879119884
dbSNP Clinvar 		1663680 245.73 CA C . 0/1 30 SPLICE_SITE_REGION LOW None None None None None None None SLC35E2|0.004983271|85.85%
View mm180110lp 21 rs62220886
dbSNP Clinvar 		46011149 137.77 T C . 0/1 75 SPLICE_SITE_REGION LOW None None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-6|0.002193363|90.43%
  • Page 1 of 1