SNP Links for Gene (Select 55147) - SNP

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Select item 14914830501.

rs1491483050 has merged into rs34197647 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCGCCCCCCCCCCC [Show Flanks]
Chromosome:: 14:22900337 (GRCh38)
14:23369546 (GRCh37)
Canonical SPDI:: NC_000014.9:22900329:CCCCCCCCCC:CCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000014.9:22900329:CCCCCCCCCC:CCCCCCCCCCCCCGCCCCCCCCCCC
Gene:: RBM23 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCCCCCCCCCCCCCC=0.0008/4 (ALFA)
-=0.1965/984 (1000Genomes)
CC=0.2698/1040 (ALSPAC)
HGVS:: NC_000014.9:g.22900337_22900339del, NC_000014.9:g.22900338_22900339del, NC_000014.9:g.22900339del, NC_000014.9:g.22900339dup, NC_000014.9:g.22900338_22900339dup, NC_000014.9:g.22900337_22900339dup, NC_000014.9:g.22900336_22900339dup, NC_000014.9:g.22900335_22900339dup, NC_000014.9:g.22900334_22900339dup, NC_000014.9:g.22900339_22900340insCCCCCCCCCCCCCCC, NC_000014.9:g.22900339_22900340insCCCCCCCCCCCCCCCC, NC_000014.9:g.22900339_22900340insCCCCCCCCCCCCCCCCC, NC_000014.9:g.22900339_22900340insCCCCCCCCCCCCCCCCCC, NC_000014.9:g.22900339_22900340insCCCCCCCCCCCCCCCCCCC, NC_000014.9:g.22900330_22900339C[13]GCCCCCCCCCCC[1], NC_000014.8:g.23369546_23369548del, NC_000014.8:g.23369547_23369548del, NC_000014.8:g.23369548del, NC_000014.8:g.23369548dup, NC_000014.8:g.23369547_23369548dup, NC_000014.8:g.23369546_23369548dup, NC_000014.8:g.23369545_23369548dup, NC_000014.8:g.23369544_23369548dup, NC_000014.8:g.23369543_23369548dup, NC_000014.8:g.23369548_23369549insCCCCCCCCCCCCCCC, NC_000014.8:g.23369548_23369549insCCCCCCCCCCCCCCCC, NC_000014.8:g.23369548_23369549insCCCCCCCCCCCCCCCCC, NC_000014.8:g.23369548_23369549insCCCCCCCCCCCCCCCCCC, NC_000014.8:g.23369548_23369549insCCCCCCCCCCCCCCCCCCC, NC_000014.8:g.23369539_23369548C[13]GCCCCCCCCCCC[1], NM_018107.5:c.*1398_*1400del, NM_018107.5:c.*1399_*1400del, NM_018107.5:c.*1400del, NM_018107.5:c.*1400dup, NM_018107.5:c.*1399_*1400dup, NM_018107.5:c.*1398_*1400dup, NM_018107.5:c.*1397_*1400dup, NM_018107.5:c.*1396_*1400dup, NM_018107.5:c.*1395_*1400dup, NM_018107.5:c.*1400_*1401insGGGGGGGGGGGGGGG, NM_018107.5:c.*1400_*1401insGGGGGGGGGGGGGGGG, NM_018107.5:c.*1400_*1401insGGGGGGGGGGGGGGGGG, NM_018107.5:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, NM_018107.5:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, NM_018107.5:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], XM_011536895.4:c.*1398_*1400del, XM_011536895.4:c.*1399_*1400del, XM_011536895.4:c.*1400del, XM_011536895.4:c.*1400dup, XM_011536895.4:c.*1399_*1400dup, XM_011536895.4:c.*1398_*1400dup, XM_011536895.4:c.*1397_*1400dup, XM_011536895.4:c.*1396_*1400dup, XM_011536895.4:c.*1395_*1400dup, XM_011536895.4:c.*1400_*1401insGGGGGGGGGGGGGGG, XM_011536895.4:c.*1400_*1401insGGGGGGGGGGGGGGGG, XM_011536895.4:c.*1400_*1401insGGGGGGGGGGGGGGGGG, XM_011536895.4:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, XM_011536895.4:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, XM_011536895.4:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], XM_011536897.3:c.*1398_*1400del, XM_011536897.3:c.*1399_*1400del, XM_011536897.3:c.*1400del, XM_011536897.3:c.*1400dup, XM_011536897.3:c.*1399_*1400dup, XM_011536897.3:c.*1398_*1400dup, XM_011536897.3:c.*1397_*1400dup, XM_011536897.3:c.*1396_*1400dup, XM_011536897.3:c.*1395_*1400dup, XM_011536897.3:c.*1400_*1401insGGGGGGGGGGGGGGG, XM_011536897.3:c.*1400_*1401insGGGGGGGGGGGGGGGG, XM_011536897.3:c.*1400_*1401insGGGGGGGGGGGGGGGGG, XM_011536897.3:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, XM_011536897.3:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, XM_011536897.3:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], XM_011536892.3:c.*1398_*1400del, XM_011536892.3:c.*1399_*1400del, XM_011536892.3:c.*1400del, XM_011536892.3:c.*1400dup, XM_011536892.3:c.*1399_*1400dup, XM_011536892.3:c.*1398_*1400dup, XM_011536892.3:c.*1397_*1400dup, XM_011536892.3:c.*1396_*1400dup, XM_011536892.3:c.*1395_*1400dup, XM_011536892.3:c.*1400_*1401insGGGGGGGGGGGGGGG, XM_011536892.3:c.*1400_*1401insGGGGGGGGGGGGGGGG, XM_011536892.3:c.*1400_*1401insGGGGGGGGGGGGGGGGG, XM_011536892.3:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, XM_011536892.3:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, XM_011536892.3:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], XM_011536894.3:c.*1398_*1400del, XM_011536894.3:c.*1399_*1400del, XM_011536894.3:c.*1400del, XM_011536894.3:c.*1400dup, XM_011536894.3:c.*1399_*1400dup, XM_011536894.3:c.*1398_*1400dup, XM_011536894.3:c.*1397_*1400dup, XM_011536894.3:c.*1396_*1400dup, XM_011536894.3:c.*1395_*1400dup, XM_011536894.3:c.*1400_*1401insGGGGGGGGGGGGGGG, XM_011536894.3:c.*1400_*1401insGGGGGGGGGGGGGGGG, XM_011536894.3:c.*1400_*1401insGGGGGGGGGGGGGGGGG, XM_011536894.3:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, XM_011536894.3:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, XM_011536894.3:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], NM_001352766.2:c.*1398_*1400del, NM_001352766.2:c.*1399_*1400del, NM_001352766.2:c.*1400del, NM_001352766.2:c.*1400dup, NM_001352766.2:c.*1399_*1400dup, NM_001352766.2:c.*1398_*1400dup, NM_001352766.2:c.*1397_*1400dup, NM_001352766.2:c.*1396_*1400dup, NM_001352766.2:c.*1395_*1400dup, NM_001352766.2:c.*1400_*1401insGGGGGGGGGGGGGGG, NM_001352766.2:c.*1400_*1401insGGGGGGGGGGGGGGGG, NM_001352766.2:c.*1400_*1401insGGGGGGGGGGGGGGGGG, NM_001352766.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, NM_001352766.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, NM_001352766.2:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], NM_001352762.2:c.*1398_*1400del, NM_001352762.2:c.*1399_*1400del, NM_001352762.2:c.*1400del, NM_001352762.2:c.*1400dup, NM_001352762.2:c.*1399_*1400dup, NM_001352762.2:c.*1398_*1400dup, NM_001352762.2:c.*1397_*1400dup, NM_001352762.2:c.*1396_*1400dup, NM_001352762.2:c.*1395_*1400dup, NM_001352762.2:c.*1400_*1401insGGGGGGGGGGGGGGG, NM_001352762.2:c.*1400_*1401insGGGGGGGGGGGGGGGG, NM_001352762.2:c.*1400_*1401insGGGGGGGGGGGGGGGGG, NM_001352762.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, NM_001352762.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, NM_001352762.2:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], NM_001352764.2:c.*1398_*1400del, NM_001352764.2:c.*1399_*1400del, NM_001352764.2:c.*1400del, NM_001352764.2:c.*1400dup, NM_001352764.2:c.*1399_*1400dup, NM_001352764.2:c.*1398_*1400dup, NM_001352764.2:c.*1397_*1400dup, NM_001352764.2:c.*1396_*1400dup, NM_001352764.2:c.*1395_*1400dup, NM_001352764.2:c.*1400_*1401insGGGGGGGGGGGGGGG, NM_001352764.2:c.*1400_*1401insGGGGGGGGGGGGGGGG, NM_001352764.2:c.*1400_*1401insGGGGGGGGGGGGGGGGG, NM_001352764.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, NM_001352764.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, NM_001352764.2:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], NM_001352763.2:c.*1398_*1400del, NM_001352763.2:c.*1399_*1400del, NM_001352763.2:c.*1400del, NM_001352763.2:c.*1400dup, NM_001352763.2:c.*1399_*1400dup, NM_001352763.2:c.*1398_*1400dup, NM_001352763.2:c.*1397_*1400dup, NM_001352763.2:c.*1396_*1400dup, NM_001352763.2:c.*1395_*1400dup, NM_001352763.2:c.*1400_*1401insGGGGGGGGGGGGGGG, NM_001352763.2:c.*1400_*1401insGGGGGGGGGGGGGGGG, NM_001352763.2:c.*1400_*1401insGGGGGGGGGGGGGGGGG, NM_001352763.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, NM_001352763.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, NM_001352763.2:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], NM_001352765.2:c.*1398_*1400del, NM_001352765.2:c.*1399_*1400del, NM_001352765.2:c.*1400del, NM_001352765.2:c.*1400dup, NM_001352765.2:c.*1399_*1400dup, NM_001352765.2:c.*1398_*1400dup, NM_001352765.2:c.*1397_*1400dup, NM_001352765.2:c.*1396_*1400dup, NM_001352765.2:c.*1395_*1400dup, NM_001352765.2:c.*1400_*1401insGGGGGGGGGGGGGGG, NM_001352765.2:c.*1400_*1401insGGGGGGGGGGGGGGGG, NM_001352765.2:c.*1400_*1401insGGGGGGGGGGGGGGGGG, NM_001352765.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, NM_001352765.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, NM_001352765.2:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], NM_001077351.2:c.*1398_*1400del, NM_001077351.2:c.*1399_*1400del, NM_001077351.2:c.*1400del, NM_001077351.2:c.*1400dup, NM_001077351.2:c.*1399_*1400dup, NM_001077351.2:c.*1398_*1400dup, NM_001077351.2:c.*1397_*1400dup, NM_001077351.2:c.*1396_*1400dup, NM_001077351.2:c.*1395_*1400dup, NM_001077351.2:c.*1400_*1401insGGGGGGGGGGGGGGG, NM_001077351.2:c.*1400_*1401insGGGGGGGGGGGGGGGG, NM_001077351.2:c.*1400_*1401insGGGGGGGGGGGGGGGGG, NM_001077351.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, NM_001077351.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, NM_001077351.2:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], NM_001077352.2:c.*1398_*1400del, NM_001077352.2:c.*1399_*1400del, NM_001077352.2:c.*1400del, NM_001077352.2:c.*1400dup, NM_001077352.2:c.*1399_*1400dup, NM_001077352.2:c.*1398_*1400dup, NM_001077352.2:c.*1397_*1400dup, NM_001077352.2:c.*1396_*1400dup, NM_001077352.2:c.*1395_*1400dup, NM_001077352.2:c.*1400_*1401insGGGGGGGGGGGGGGG, NM_001077352.2:c.*1400_*1401insGGGGGGGGGGGGGGGG, NM_001077352.2:c.*1400_*1401insGGGGGGGGGGGGGGGGG, NM_001077352.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, NM_001077352.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, NM_001077352.2:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], XM_011536902.2:c.*1398_*1400del, XM_011536902.2:c.*1399_*1400del, XM_011536902.2:c.*1400del, XM_011536902.2:c.*1400dup, XM_011536902.2:c.*1399_*1400dup, XM_011536902.2:c.*1398_*1400dup, XM_011536902.2:c.*1397_*1400dup, XM_011536902.2:c.*1396_*1400dup, XM_011536902.2:c.*1395_*1400dup, XM_011536902.2:c.*1400_*1401insGGGGGGGGGGGGGGG, XM_011536902.2:c.*1400_*1401insGGGGGGGGGGGGGGGG, XM_011536902.2:c.*1400_*1401insGGGGGGGGGGGGGGGGG, XM_011536902.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, XM_011536902.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, XM_011536902.2:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], NM_001308044.2:c.*1398_*1400del, NM_001308044.2:c.*1399_*1400del, NM_001308044.2:c.*1400del, NM_001308044.2:c.*1400dup, NM_001308044.2:c.*1399_*1400dup, NM_001308044.2:c.*1398_*1400dup, NM_001308044.2:c.*1397_*1400dup, NM_001308044.2:c.*1396_*1400dup, NM_001308044.2:c.*1395_*1400dup, NM_001308044.2:c.*1400_*1401insGGGGGGGGGGGGGGG, NM_001308044.2:c.*1400_*1401insGGGGGGGGGGGGGGGG, NM_001308044.2:c.*1400_*1401insGGGGGGGGGGGGGGGGG, NM_001308044.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, NM_001308044.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, NM_001308044.2:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], XM_011536903.2:c.*1398_*1400del, XM_011536903.2:c.*1399_*1400del, XM_011536903.2:c.*1400del, XM_011536903.2:c.*1400dup, XM_011536903.2:c.*1399_*1400dup, XM_011536903.2:c.*1398_*1400dup, XM_011536903.2:c.*1397_*1400dup, XM_011536903.2:c.*1396_*1400dup, XM_011536903.2:c.*1395_*1400dup, XM_011536903.2:c.*1400_*1401insGGGGGGGGGGGGGGG, XM_011536903.2:c.*1400_*1401insGGGGGGGGGGGGGGGG, XM_011536903.2:c.*1400_*1401insGGGGGGGGGGGGGGGGG, XM_011536903.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, XM_011536903.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, XM_011536903.2:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], XM_011536906.2:c.*1398_*1400del, XM_011536906.2:c.*1399_*1400del, XM_011536906.2:c.*1400del, XM_011536906.2:c.*1400dup, XM_011536906.2:c.*1399_*1400dup, XM_011536906.2:c.*1398_*1400dup, XM_011536906.2:c.*1397_*1400dup, XM_011536906.2:c.*1396_*1400dup, XM_011536906.2:c.*1395_*1400dup, XM_011536906.2:c.*1400_*1401insGGGGGGGGGGGGGGG, XM_011536906.2:c.*1400_*1401insGGGGGGGGGGGGGGGG, XM_011536906.2:c.*1400_*1401insGGGGGGGGGGGGGGGGG, XM_011536906.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, XM_011536906.2:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, XM_011536906.2:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1], XM_047431521.1:c.*1398_*1400del, XM_047431521.1:c.*1399_*1400del, XM_047431521.1:c.*1400del, XM_047431521.1:c.*1400dup, XM_047431521.1:c.*1399_*1400dup, XM_047431521.1:c.*1398_*1400dup, XM_047431521.1:c.*1397_*1400dup, XM_047431521.1:c.*1396_*1400dup, XM_047431521.1:c.*1395_*1400dup, XM_047431521.1:c.*1400_*1401insGGGGGGGGGGGGGGG, XM_047431521.1:c.*1400_*1401insGGGGGGGGGGGGGGGG, XM_047431521.1:c.*1400_*1401insGGGGGGGGGGGGGGGGG, XM_047431521.1:c.*1400_*1401insGGGGGGGGGGGGGGGGGG, XM_047431521.1:c.*1400_*1401insGGGGGGGGGGGGGGGGGGG, XM_047431521.1:c.*1391_*1400G[11]CGGGGGGGGGGGGG[1]

Select item 14914755352.

rs1491475535 has merged into rs112725825 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT [Show Flanks]
Chromosome:: 14:22900783 (GRCh38)
14:23369992 (GRCh37)
Canonical SPDI:: NC_000014.9:22900781:TAT:T,NC_000014.9:22900781:TAT:TATAT,NC_000014.9:22900781:TAT:TATATAT,NC_000014.9:22900781:TAT:TATATATAT,NC_000014.9:22900781:TAT:TATATATATAT,NC_000014.9:22900781:TAT:TATATATATATAT,NC_000014.9:22900781:TAT:TATATATATATATAT
Gene:: RBM23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
TA=0.225/9 (GENOME_DK)
TA=0.2692/1348 (1000Genomes)
HGVS:: NC_000014.9:g.22900783_22900784del, NC_000014.9:g.22900783_22900784dup, NC_000014.9:g.22900783AT[3], NC_000014.9:g.22900783AT[4], NC_000014.9:g.22900783AT[5], NC_000014.9:g.22900783AT[6], NC_000014.9:g.22900783AT[7], NC_000014.8:g.23369992_23369993del, NC_000014.8:g.23369992_23369993dup, NC_000014.8:g.23369992AT[3], NC_000014.8:g.23369992AT[4], NC_000014.8:g.23369992AT[5], NC_000014.8:g.23369992AT[6], NC_000014.8:g.23369992AT[7], NM_018107.5:c.*947_*948del, NM_018107.5:c.*947_*948dup, NM_018107.5:c.*947TA[3], NM_018107.5:c.*947TA[4], NM_018107.5:c.*947TA[5], NM_018107.5:c.*947TA[6], NM_018107.5:c.*947TA[7], NM_018107.4:c.*947_*948del, NM_018107.4:c.*947_*948dup, NM_018107.4:c.*947TA[3], NM_018107.4:c.*947TA[4], NM_018107.4:c.*947TA[5], NM_018107.4:c.*947TA[6], NM_018107.4:c.*947TA[7], XM_011536895.4:c.*947_*948del, XM_011536895.4:c.*947_*948dup, XM_011536895.4:c.*947TA[3], XM_011536895.4:c.*947TA[4], XM_011536895.4:c.*947TA[5], XM_011536895.4:c.*947TA[6], XM_011536895.4:c.*947TA[7], XM_011536895.3:c.*947_*948del, XM_011536895.3:c.*947_*948dup, XM_011536895.3:c.*947TA[3], XM_011536895.3:c.*947TA[4], XM_011536895.3:c.*947TA[5], XM_011536895.3:c.*947TA[6], XM_011536895.3:c.*947TA[7], XM_011536895.2:c.*947_*948del, XM_011536895.2:c.*947_*948dup, XM_011536895.2:c.*947TA[3], XM_011536895.2:c.*947TA[4], XM_011536895.2:c.*947TA[5], XM_011536895.2:c.*947TA[6], XM_011536895.2:c.*947TA[7], XM_011536895.1:c.*947_*948del, XM_011536895.1:c.*947_*948dup, XM_011536895.1:c.*947TA[3], XM_011536895.1:c.*947TA[4], XM_011536895.1:c.*947TA[5], XM_011536895.1:c.*947TA[6], XM_011536895.1:c.*947TA[7], XM_011536897.3:c.*947_*948del, XM_011536897.3:c.*947_*948dup, XM_011536897.3:c.*947TA[3], XM_011536897.3:c.*947TA[4], XM_011536897.3:c.*947TA[5], XM_011536897.3:c.*947TA[6], XM_011536897.3:c.*947TA[7], XM_011536897.2:c.*947_*948del, XM_011536897.2:c.*947_*948dup, XM_011536897.2:c.*947TA[3], XM_011536897.2:c.*947TA[4], XM_011536897.2:c.*947TA[5], XM_011536897.2:c.*947TA[6], XM_011536897.2:c.*947TA[7], XM_011536897.1:c.*947_*948del, XM_011536897.1:c.*947_*948dup, XM_011536897.1:c.*947TA[3], XM_011536897.1:c.*947TA[4], XM_011536897.1:c.*947TA[5], XM_011536897.1:c.*947TA[6], XM_011536897.1:c.*947TA[7], XM_011536892.3:c.*947_*948del, XM_011536892.3:c.*947_*948dup, XM_011536892.3:c.*947TA[3], XM_011536892.3:c.*947TA[4], XM_011536892.3:c.*947TA[5], XM_011536892.3:c.*947TA[6], XM_011536892.3:c.*947TA[7], XM_011536892.2:c.*947_*948del, XM_011536892.2:c.*947_*948dup, XM_011536892.2:c.*947TA[3], XM_011536892.2:c.*947TA[4], XM_011536892.2:c.*947TA[5], XM_011536892.2:c.*947TA[6], XM_011536892.2:c.*947TA[7], XM_011536892.1:c.*947_*948del, XM_011536892.1:c.*947_*948dup, XM_011536892.1:c.*947TA[3], XM_011536892.1:c.*947TA[4], XM_011536892.1:c.*947TA[5], XM_011536892.1:c.*947TA[6], XM_011536892.1:c.*947TA[7], XM_011536894.3:c.*947_*948del, XM_011536894.3:c.*947_*948dup, XM_011536894.3:c.*947TA[3], XM_011536894.3:c.*947TA[4], XM_011536894.3:c.*947TA[5], XM_011536894.3:c.*947TA[6], XM_011536894.3:c.*947TA[7], XM_011536894.2:c.*947_*948del, XM_011536894.2:c.*947_*948dup, XM_011536894.2:c.*947TA[3], XM_011536894.2:c.*947TA[4], XM_011536894.2:c.*947TA[5], XM_011536894.2:c.*947TA[6], XM_011536894.2:c.*947TA[7], XM_011536894.1:c.*947_*948del, XM_011536894.1:c.*947_*948dup, XM_011536894.1:c.*947TA[3], XM_011536894.1:c.*947TA[4], XM_011536894.1:c.*947TA[5], XM_011536894.1:c.*947TA[6], XM_011536894.1:c.*947TA[7], NM_001352766.2:c.*947_*948del, NM_001352766.2:c.*947_*948dup, NM_001352766.2:c.*947TA[3], NM_001352766.2:c.*947TA[4], NM_001352766.2:c.*947TA[5], NM_001352766.2:c.*947TA[6], NM_001352766.2:c.*947TA[7], NM_001352766.1:c.*947_*948del, NM_001352766.1:c.*947_*948dup, NM_001352766.1:c.*947TA[3], NM_001352766.1:c.*947TA[4], NM_001352766.1:c.*947TA[5], NM_001352766.1:c.*947TA[6], NM_001352766.1:c.*947TA[7], NM_001352762.2:c.*947_*948del, NM_001352762.2:c.*947_*948dup, NM_001352762.2:c.*947TA[3], NM_001352762.2:c.*947TA[4], NM_001352762.2:c.*947TA[5], NM_001352762.2:c.*947TA[6], NM_001352762.2:c.*947TA[7], NM_001352762.1:c.*947_*948del, NM_001352762.1:c.*947_*948dup, NM_001352762.1:c.*947TA[3], NM_001352762.1:c.*947TA[4], NM_001352762.1:c.*947TA[5], NM_001352762.1:c.*947TA[6], NM_001352762.1:c.*947TA[7], NM_001352764.2:c.*947_*948del, NM_001352764.2:c.*947_*948dup, NM_001352764.2:c.*947TA[3], NM_001352764.2:c.*947TA[4], NM_001352764.2:c.*947TA[5], NM_001352764.2:c.*947TA[6], NM_001352764.2:c.*947TA[7], NM_001352764.1:c.*947_*948del, NM_001352764.1:c.*947_*948dup, NM_001352764.1:c.*947TA[3], NM_001352764.1:c.*947TA[4], NM_001352764.1:c.*947TA[5], NM_001352764.1:c.*947TA[6], NM_001352764.1:c.*947TA[7], NM_001352763.2:c.*947_*948del, NM_001352763.2:c.*947_*948dup, NM_001352763.2:c.*947TA[3], NM_001352763.2:c.*947TA[4], NM_001352763.2:c.*947TA[5], NM_001352763.2:c.*947TA[6], NM_001352763.2:c.*947TA[7], NM_001352763.1:c.*947_*948del, NM_001352763.1:c.*947_*948dup, NM_001352763.1:c.*947TA[3], NM_001352763.1:c.*947TA[4], NM_001352763.1:c.*947TA[5], NM_001352763.1:c.*947TA[6], NM_001352763.1:c.*947TA[7], NM_001352765.2:c.*947_*948del, NM_001352765.2:c.*947_*948dup, NM_001352765.2:c.*947TA[3], NM_001352765.2:c.*947TA[4], NM_001352765.2:c.*947TA[5], NM_001352765.2:c.*947TA[6], NM_001352765.2:c.*947TA[7], NM_001352765.1:c.*947_*948del, NM_001352765.1:c.*947_*948dup, NM_001352765.1:c.*947TA[3], NM_001352765.1:c.*947TA[4], NM_001352765.1:c.*947TA[5], NM_001352765.1:c.*947TA[6], NM_001352765.1:c.*947TA[7], NM_001077351.2:c.*947_*948del, NM_001077351.2:c.*947_*948dup, NM_001077351.2:c.*947TA[3], NM_001077351.2:c.*947TA[4], NM_001077351.2:c.*947TA[5], NM_001077351.2:c.*947TA[6], NM_001077351.2:c.*947TA[7], NM_001077351.1:c.*947_*948del, NM_001077351.1:c.*947_*948dup, NM_001077351.1:c.*947TA[3], NM_001077351.1:c.*947TA[4], NM_001077351.1:c.*947TA[5], NM_001077351.1:c.*947TA[6], NM_001077351.1:c.*947TA[7], NM_001077352.2:c.*947_*948del, NM_001077352.2:c.*947_*948dup, NM_001077352.2:c.*947TA[3], NM_001077352.2:c.*947TA[4], NM_001077352.2:c.*947TA[5], NM_001077352.2:c.*947TA[6], NM_001077352.2:c.*947TA[7], NM_001077352.1:c.*947_*948del, NM_001077352.1:c.*947_*948dup, NM_001077352.1:c.*947TA[3], NM_001077352.1:c.*947TA[4], NM_001077352.1:c.*947TA[5], NM_001077352.1:c.*947TA[6], NM_001077352.1:c.*947TA[7], XM_011536902.2:c.*947_*948del, XM_011536902.2:c.*947_*948dup, XM_011536902.2:c.*947TA[3], XM_011536902.2:c.*947TA[4], XM_011536902.2:c.*947TA[5], XM_011536902.2:c.*947TA[6], XM_011536902.2:c.*947TA[7], XM_011536902.1:c.*947_*948del, XM_011536902.1:c.*947_*948dup, XM_011536902.1:c.*947TA[3], XM_011536902.1:c.*947TA[4], XM_011536902.1:c.*947TA[5], XM_011536902.1:c.*947TA[6], XM_011536902.1:c.*947TA[7], NM_001308044.2:c.*947_*948del, NM_001308044.2:c.*947_*948dup, NM_001308044.2:c.*947TA[3], NM_001308044.2:c.*947TA[4], NM_001308044.2:c.*947TA[5], NM_001308044.2:c.*947TA[6], NM_001308044.2:c.*947TA[7], NM_001308044.1:c.*947_*948del, NM_001308044.1:c.*947_*948dup, NM_001308044.1:c.*947TA[3], NM_001308044.1:c.*947TA[4], NM_001308044.1:c.*947TA[5], NM_001308044.1:c.*947TA[6], NM_001308044.1:c.*947TA[7], XM_011536903.2:c.*947_*948del, XM_011536903.2:c.*947_*948dup, XM_011536903.2:c.*947TA[3], XM_011536903.2:c.*947TA[4], XM_011536903.2:c.*947TA[5], XM_011536903.2:c.*947TA[6], XM_011536903.2:c.*947TA[7], XM_011536903.1:c.*947_*948del, XM_011536903.1:c.*947_*948dup, XM_011536903.1:c.*947TA[3], XM_011536903.1:c.*947TA[4], XM_011536903.1:c.*947TA[5], XM_011536903.1:c.*947TA[6], XM_011536903.1:c.*947TA[7], XM_011536906.2:c.*947_*948del, XM_011536906.2:c.*947_*948dup, XM_011536906.2:c.*947TA[3], XM_011536906.2:c.*947TA[4], XM_011536906.2:c.*947TA[5], XM_011536906.2:c.*947TA[6], XM_011536906.2:c.*947TA[7], XM_011536906.1:c.*947_*948del, XM_011536906.1:c.*947_*948dup, XM_011536906.1:c.*947TA[3], XM_011536906.1:c.*947TA[4], XM_011536906.1:c.*947TA[5], XM_011536906.1:c.*947TA[6], XM_011536906.1:c.*947TA[7], XM_047431521.1:c.*947_*948del, XM_047431521.1:c.*947_*948dup, XM_047431521.1:c.*947TA[3], XM_047431521.1:c.*947TA[4], XM_047431521.1:c.*947TA[5], XM_047431521.1:c.*947TA[6], XM_047431521.1:c.*947TA[7]

Select item 14914681673.

rs1491468167 has merged into rs546748436 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:22910456 (GRCh38)
14:23379665 (GRCh37)
Canonical SPDI:: NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22910450:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RBM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
AAAAAAAA=0./0 (GENOME_DK)
AAAAAAA=0.000004/1 (TOPMED)
-=0.304359/1173 (ALSPAC)
AAAAAAAAAAAAAA=0.320288/1604 (1000Genomes)
HGVS:: NC_000014.9:g.22910456_22910475del, NC_000014.9:g.22910460_22910475del, NC_000014.9:g.22910461_22910475del, NC_000014.9:g.22910462_22910475del, NC_000014.9:g.22910463_22910475del, NC_000014.9:g.22910464_22910475del, NC_000014.9:g.22910465_22910475del, NC_000014.9:g.22910466_22910475del, NC_000014.9:g.22910467_22910475del, NC_000014.9:g.22910468_22910475del, NC_000014.9:g.22910469_22910475del, NC_000014.9:g.22910470_22910475del, NC_000014.9:g.22910471_22910475del, NC_000014.9:g.22910472_22910475del, NC_000014.9:g.22910473_22910475del, NC_000014.9:g.22910474_22910475del, NC_000014.9:g.22910475del, NC_000014.9:g.22910475dup, NC_000014.9:g.22910474_22910475dup, NC_000014.9:g.22910473_22910475dup, NC_000014.9:g.22910472_22910475dup, NC_000014.9:g.22910471_22910475dup, NC_000014.9:g.22910470_22910475dup, NC_000014.9:g.22910469_22910475dup, NC_000014.9:g.22910468_22910475dup, NC_000014.9:g.22910467_22910475dup, NC_000014.9:g.22910466_22910475dup, NC_000014.9:g.22910465_22910475dup, NC_000014.9:g.22910464_22910475dup, NC_000014.9:g.22910463_22910475dup, NC_000014.8:g.23379665_23379684del, NC_000014.8:g.23379669_23379684del, NC_000014.8:g.23379670_23379684del, NC_000014.8:g.23379671_23379684del, NC_000014.8:g.23379672_23379684del, NC_000014.8:g.23379673_23379684del, NC_000014.8:g.23379674_23379684del, NC_000014.8:g.23379675_23379684del, NC_000014.8:g.23379676_23379684del, NC_000014.8:g.23379677_23379684del, NC_000014.8:g.23379678_23379684del, NC_000014.8:g.23379679_23379684del, NC_000014.8:g.23379680_23379684del, NC_000014.8:g.23379681_23379684del, NC_000014.8:g.23379682_23379684del, NC_000014.8:g.23379683_23379684del, NC_000014.8:g.23379684del, NC_000014.8:g.23379684dup, NC_000014.8:g.23379683_23379684dup, NC_000014.8:g.23379682_23379684dup, NC_000014.8:g.23379681_23379684dup, NC_000014.8:g.23379680_23379684dup, NC_000014.8:g.23379679_23379684dup, NC_000014.8:g.23379678_23379684dup, NC_000014.8:g.23379677_23379684dup, NC_000014.8:g.23379676_23379684dup, NC_000014.8:g.23379675_23379684dup, NC_000014.8:g.23379674_23379684dup, NC_000014.8:g.23379673_23379684dup, NC_000014.8:g.23379672_23379684dup

Select item 14913835234.

rs1491383523 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 14:22920120 (GRCh38)
14:23389329 (GRCh37)
Canonical SPDI:: NC_000014.9:22920118:TGT:T
Gene:: PRMT5 (Varview), RBM23 (Varview), PRMT5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000014.9:g.22920120_22920121del, NC_000014.8:g.23389329_23389330del, NR_120599.1:n.665_666del, NR_120600.1:n.665_666del

Select item 14913127615.

rs1491312761 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 14:22900329 (GRCh38)
14:23369538 (GRCh37)
Canonical SPDI:: NC_000014.9:22900328:AC:
Gene:: RBM23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00101/12 (ALFA)
HGVS:: NC_000014.9:g.22900329_22900330del, NC_000014.8:g.23369538_23369539del, NM_018107.5:c.*1400_*1401del, XM_011536895.4:c.*1400_*1401del, XM_011536897.3:c.*1400_*1401del, XM_011536892.3:c.*1400_*1401del, XM_011536894.3:c.*1400_*1401del, NM_001352766.2:c.*1400_*1401del, NM_001352762.2:c.*1400_*1401del, NM_001352764.2:c.*1400_*1401del, NM_001352763.2:c.*1400_*1401del, NM_001352765.2:c.*1400_*1401del, NM_001077351.2:c.*1400_*1401del, NM_001077352.2:c.*1400_*1401del, XM_011536902.2:c.*1400_*1401del, NM_001308044.2:c.*1400_*1401del, XM_011536903.2:c.*1400_*1401del, XM_011536906.2:c.*1400_*1401del, XM_047431521.1:c.*1400_*1401del

Select item 14912893156.

rs1491289315 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:22910450 (GRCh38)
14:23379659 (GRCh37)
Canonical SPDI:: NC_000014.9:22910449:CA:
Gene:: RBM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.22910450_22910451del, NC_000014.8:g.23379659_23379660del

Select item 14912164067.

rs1491216406 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:22912998 (GRCh38)
14:23382207 (GRCh37)
Canonical SPDI:: NC_000014.9:22912997:CA:
Gene:: RBM23 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00048/5 (GnomAD)
HGVS:: NC_000014.9:g.22912998_22912999del, NC_000014.8:g.23382207_23382208del

Select item 14911763828.

rs1491176382 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAA [Show Flanks]
Chromosome:: 14:22920119 (GRCh38)
14:23389329 (GRCh37)
Canonical SPDI:: NC_000014.9:22920119:GTAA:GTAAGTAA
Gene:: PRMT5 (Varview), RBM23 (Varview), PRMT5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTAAGTAA=0./0 (ALFA)
GTAA=0.000004/1 (TOPMED)
GTAA=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.22920120_22920123dup, NC_000014.8:g.23389329_23389332dup, NR_120599.1:n.665_668dup, NR_120600.1:n.665_668dup

Select item 14910953799.

rs1491095379 has merged into rs58361546 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:22913008 (GRCh38)
14:23382217 (GRCh37)
Canonical SPDI:: NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22912998:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RBM23 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.22913008_22913025del, NC_000014.9:g.22913009_22913025del, NC_000014.9:g.22913010_22913025del, NC_000014.9:g.22913011_22913025del, NC_000014.9:g.22913012_22913025del, NC_000014.9:g.22913013_22913025del, NC_000014.9:g.22913014_22913025del, NC_000014.9:g.22913015_22913025del, NC_000014.9:g.22913016_22913025del, NC_000014.9:g.22913017_22913025del, NC_000014.9:g.22913018_22913025del, NC_000014.9:g.22913019_22913025del, NC_000014.9:g.22913020_22913025del, NC_000014.9:g.22913021_22913025del, NC_000014.9:g.22913022_22913025del, NC_000014.9:g.22913023_22913025del, NC_000014.9:g.22913024_22913025del, NC_000014.9:g.22913025del, NC_000014.9:g.22913025dup, NC_000014.9:g.22913024_22913025dup, NC_000014.9:g.22913023_22913025dup, NC_000014.9:g.22913022_22913025dup, NC_000014.9:g.22913021_22913025dup, NC_000014.9:g.22913020_22913025dup, NC_000014.9:g.22913019_22913025dup, NC_000014.9:g.22913018_22913025dup, NC_000014.9:g.22913017_22913025dup, NC_000014.9:g.22913016_22913025dup, NC_000014.9:g.22913015_22913025dup, NC_000014.9:g.22913025_22913026insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.23382217_23382234del, NC_000014.8:g.23382218_23382234del, NC_000014.8:g.23382219_23382234del, NC_000014.8:g.23382220_23382234del, NC_000014.8:g.23382221_23382234del, NC_000014.8:g.23382222_23382234del, NC_000014.8:g.23382223_23382234del, NC_000014.8:g.23382224_23382234del, NC_000014.8:g.23382225_23382234del, NC_000014.8:g.23382226_23382234del, NC_000014.8:g.23382227_23382234del, NC_000014.8:g.23382228_23382234del, NC_000014.8:g.23382229_23382234del, NC_000014.8:g.23382230_23382234del, NC_000014.8:g.23382231_23382234del, NC_000014.8:g.23382232_23382234del, NC_000014.8:g.23382233_23382234del, NC_000014.8:g.23382234del, NC_000014.8:g.23382234dup, NC_000014.8:g.23382233_23382234dup, NC_000014.8:g.23382232_23382234dup, NC_000014.8:g.23382231_23382234dup, NC_000014.8:g.23382230_23382234dup, NC_000014.8:g.23382229_23382234dup, NC_000014.8:g.23382228_23382234dup, NC_000014.8:g.23382227_23382234dup, NC_000014.8:g.23382226_23382234dup, NC_000014.8:g.23382225_23382234dup, NC_000014.8:g.23382224_23382234dup, NC_000014.8:g.23382234_23382235insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149104487110.

rs1491044871 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTTTTTTTTTTTTTTTTTTTTTCT
Chromosome:: no mapping
Canonical SPDI:

Select item 149095897111.

rs1490958971 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:22900780 (GRCh38)
14:23369990 (GRCh37)
Canonical SPDI:: NC_000014.9:22900780::A
Gene:: RBM23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000035/1 (TOMMO)
A=0.000101/12 (GnomAD)
HGVS:: NC_000014.9:g.22900780_22900781insA, NC_000014.8:g.23369989_23369990insA, NM_018107.5:c.*949_*950insT, NM_018107.4:c.*949_*950insT, XM_011536895.4:c.*949_*950insT, XM_011536895.3:c.*949_*950insT, XM_011536895.2:c.*949_*950insT, XM_011536895.1:c.*949_*950insT, XM_011536897.3:c.*949_*950insT, XM_011536897.2:c.*949_*950insT, XM_011536897.1:c.*949_*950insT, XM_011536892.3:c.*949_*950insT, XM_011536892.2:c.*949_*950insT, XM_011536892.1:c.*949_*950insT, XM_011536894.3:c.*949_*950insT, XM_011536894.2:c.*949_*950insT, XM_011536894.1:c.*949_*950insT, NM_001352766.2:c.*949_*950insT, NM_001352766.1:c.*949_*950insT, NM_001352762.2:c.*949_*950insT, NM_001352762.1:c.*949_*950insT, NM_001352764.2:c.*949_*950insT, NM_001352764.1:c.*949_*950insT, NM_001352763.2:c.*949_*950insT, NM_001352763.1:c.*949_*950insT, NM_001352765.2:c.*949_*950insT, NM_001352765.1:c.*949_*950insT, NM_001077351.2:c.*949_*950insT, NM_001077351.1:c.*949_*950insT, NM_001077352.2:c.*949_*950insT, NM_001077352.1:c.*949_*950insT, XM_011536902.2:c.*949_*950insT, XM_011536902.1:c.*949_*950insT, NM_001308044.2:c.*949_*950insT, NM_001308044.1:c.*949_*950insT, XM_011536903.2:c.*949_*950insT, XM_011536903.1:c.*949_*950insT, XM_011536906.2:c.*949_*950insT, XM_011536906.1:c.*949_*950insT, XM_047431521.1:c.*949_*950insT

Select item 149093367712.

rs1490933677 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTC
Chromosome:: no mapping
Canonical SPDI:

Select item 149063413713.

rs1490634137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:22910321 (GRCh38)
14:23379530 (GRCh37)
Canonical SPDI:: NC_000014.9:22910320:T:C,NC_000014.9:22910320:T:G
Gene:: RBM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
G=0.039492/115 (KOREAN)
HGVS:: NC_000014.9:g.22910321T>C, NC_000014.9:g.22910321T>G, NC_000014.8:g.23379530T>C, NC_000014.8:g.23379530T>G

Select item 149048785914.

rs1490487859 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:22902797 (GRCh38)
14:23372007 (GRCh37)
Canonical SPDI:: NC_000014.9:22902797:A:AA
Gene:: RBM23 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000016/2 (GnomAD)
HGVS:: NC_000014.9:g.22902798dup, NC_000014.8:g.23372007dup, XM_024449644.2:c.*1363dup

Select item 149044452515.

rs1490444525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:22903701 (GRCh38)
14:23372910 (GRCh37)
Canonical SPDI:: NC_000014.9:22903700:T:A
Gene:: RBM23 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.22903701T>A, NC_000014.8:g.23372910T>A, XM_024449644.2:c.*460A>T, XM_024449644.1:c.*460A>T

Select item 149037841216.

rs1490378412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:22904620 (GRCh38)
14:23373829 (GRCh37)
Canonical SPDI:: NC_000014.9:22904619:C:T
Gene:: RBM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.22904620C>T, NC_000014.8:g.23373829C>T

Select item 149028839917.

rs1490288399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:22901839 (GRCh38)
14:23371048 (GRCh37)
Canonical SPDI:: NC_000014.9:22901838:A:G
Gene:: RBM23 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000014.9:g.22901839A>G, NC_000014.8:g.23371048A>G, NM_018107.5:c.1243T>C, NM_018107.4:c.1243T>C, XM_011536895.4:c.1321T>C, XM_011536895.3:c.1321T>C, XM_011536895.2:c.1321T>C, XM_011536895.1:c.1321T>C, XM_011536893.4:c.1375T>C, XM_011536893.3:c.1375T>C, XM_011536893.2:c.1375T>C, XM_011536893.1:c.1375T>C, XM_011536897.3:c.1297T>C, XM_011536897.2:c.1297T>C, XM_011536897.1:c.1297T>C, XM_011536892.3:c.1375T>C, XM_011536892.2:c.1375T>C, XM_011536892.1:c.1375T>C, XM_011536894.3:c.1369T>C, XM_011536894.2:c.1369T>C, XM_011536894.1:c.1369T>C, XM_011536896.3:c.1321T>C, XM_011536896.2:c.1321T>C, XM_011536896.1:c.1321T>C, NM_001352766.2:c.1291T>C, NM_001352766.1:c.1291T>C, NM_001352762.2:c.781T>C, NM_001352762.1:c.781T>C, NM_001352764.2:c.1423T>C, NM_001352764.1:c.1423T>C, NM_001352763.2:c.1291T>C, NM_001352763.1:c.1291T>C, NM_001352765.2:c.1243T>C, NM_001352765.1:c.1243T>C, NM_001077351.2:c.1291T>C, NM_001077351.1:c.1291T>C, NM_001077352.2:c.1189T>C, NM_001077352.1:c.1189T>C, XM_011536902.2:c.781T>C, XM_011536902.1:c.781T>C, NM_001308044.2:c.781T>C, NM_001308044.1:c.781T>C, XM_011536903.2:c.781T>C, XM_011536903.1:c.781T>C, XM_011536906.2:c.781T>C, XM_011536906.1:c.781T>C, XM_047431521.1:c.781T>C, NP_060577.3:p.Ser415Pro, XP_011535197.1:p.Ser441Pro, XP_011535195.1:p.Ser459Pro, XP_011535199.1:p.Ser433Pro, XP_011535194.1:p.Ser459Pro, XP_011535196.1:p.Ser457Pro, XP_011535198.1:p.Ser441Pro, NP_001339695.1:p.Ser431Pro, NP_001339691.1:p.Ser261Pro, NP_001339693.1:p.Ser475Pro, NP_001339692.1:p.Ser431Pro, NP_001339694.1:p.Ser415Pro, NP_001070819.1:p.Ser431Pro, NP_001070820.1:p.Ser397Pro, XP_011535204.1:p.Ser261Pro, NP_001294973.1:p.Ser261Pro, XP_011535205.1:p.Ser261Pro, XP_011535208.1:p.Ser261Pro, XP_047287477.1:p.Ser261Pro

Select item 149019346818.

rs1490193468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:22915113 (GRCh38)
14:23384322 (GRCh37)
Canonical SPDI:: NC_000014.9:22915112:C:T
Gene:: RBM23 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.22915113C>T, NC_000014.8:g.23384322C>T

Select item 148991157219.

rs1489911572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:22913379 (GRCh38)
14:23382588 (GRCh37)
Canonical SPDI:: NC_000014.9:22913378:A:G
Gene:: RBM23 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00157/7 (ALFA)
G=0.00092/26 (TOMMO)
G=0.00156/7 (Estonian)
G=0.0024/7 (KOREAN)
HGVS:: NC_000014.9:g.22913379A>G, NC_000014.8:g.23382588A>G

Select item 148981902920.

rs1489819029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:22910090 (GRCh38)
14:23379299 (GRCh37)
Canonical SPDI:: NC_000014.9:22910089:T:C,NC_000014.9:22910089:T:G
Gene:: RBM23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000106/3 (TOMMO)
G=0.001639/3 (Korea1K)
HGVS:: NC_000014.9:g.22910090T>C, NC_000014.9:g.22910090T>G, NC_000014.8:g.23379299T>C, NC_000014.8:g.23379299T>G

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