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Items: 1 to 20 of 4497

1.

rs1491535420 has merged into rs11369412 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,TTT,TTTT [Show Flanks]
    Chromosome:
    3:29281317 (GRCh38)
    3:29322808 (GRCh37)
    Canonical SPDI:
    NC_000003.12:29281311:TTTTTTT:TTTTT,NC_000003.12:29281311:TTTTTTT:TTTTTTTT,NC_000003.12:29281311:TTTTTTT:TTTTTTTTT
    Gene:
    RBMS3 (Varview), RBMS3-AS3 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTT=0.00044/2 (ALFA)
    -=0.05/2 (GENOME_DK)
    -=0.05657/253 (Estonian)
    -=0.08667/52 (NorthernSweden)
    -=0.17452/874 (1000Genomes)
    -=0.24749/4148 (TOMMO)
    -=0.25873/474 (Korea1K)
    HGVS:
    NC_000003.12:g.29281317_29281318del, NC_000003.12:g.29281318dup, NC_000003.12:g.29281317_29281318dup, NC_000003.11:g.29322808_29322809del, NC_000003.11:g.29322809dup, NC_000003.11:g.29322808_29322809dup, NM_014483.4:c.-365_-364del, NM_014483.4:c.-364dup, NM_014483.4:c.-365_-364dup, NM_014483.3:c.-365_-364del, NM_014483.3:c.-364dup, NM_014483.3:c.-365_-364dup, NM_001003793.3:c.-365_-364del, NM_001003793.3:c.-364dup, NM_001003793.3:c.-365_-364dup, NM_001003793.2:c.-365_-364del, NM_001003793.2:c.-364dup, NM_001003793.2:c.-365_-364dup, XM_005265061.3:c.-365_-364del, XM_005265061.3:c.-364dup, XM_005265061.3:c.-365_-364dup, XM_005265061.2:c.-365_-364del, XM_005265061.2:c.-364dup, XM_005265061.2:c.-365_-364dup, XM_005265061.1:c.-365_-364del, XM_005265061.1:c.-364dup, XM_005265061.1:c.-365_-364dup, NM_001003792.3:c.-365_-364del, NM_001003792.3:c.-364dup, NM_001003792.3:c.-365_-364dup, NM_001003792.2:c.-365_-364del, NM_001003792.2:c.-364dup, NM_001003792.2:c.-365_-364dup, XM_017006179.2:c.-365_-364del, XM_017006179.2:c.-364dup, XM_017006179.2:c.-365_-364dup, XM_017006179.1:c.-365_-364del, XM_017006179.1:c.-364dup, XM_017006179.1:c.-365_-364dup, NM_001177711.2:c.-365_-364del, NM_001177711.2:c.-364dup, NM_001177711.2:c.-365_-364dup, NM_001177711.1:c.-365_-364del, NM_001177711.1:c.-364dup, NM_001177711.1:c.-365_-364dup, XM_017006180.2:c.-365_-364del, XM_017006180.2:c.-364dup, XM_017006180.2:c.-365_-364dup, XM_017006180.1:c.-365_-364del, XM_017006180.1:c.-364dup, XM_017006180.1:c.-365_-364dup, XM_017006181.2:c.-365_-364del, XM_017006181.2:c.-364dup, XM_017006181.2:c.-365_-364dup, XM_017006181.1:c.-365_-364del, XM_017006181.1:c.-364dup, XM_017006181.1:c.-365_-364dup, NM_001177712.2:c.-365_-364del, NM_001177712.2:c.-364dup, NM_001177712.2:c.-365_-364dup, NM_001177712.1:c.-365_-364del, NM_001177712.1:c.-364dup, NM_001177712.1:c.-365_-364dup, XM_024453454.2:c.-365_-364del, XM_024453454.2:c.-364dup, XM_024453454.2:c.-365_-364dup, XM_024453454.1:c.-365_-364del, XM_024453454.1:c.-364dup, XM_024453454.1:c.-365_-364dup, XM_005265062.2:c.-365_-364del, XM_005265062.2:c.-364dup, XM_005265062.2:c.-365_-364dup, XM_005265062.1:c.-365_-364del, XM_005265062.1:c.-364dup, XM_005265062.1:c.-365_-364dup, NM_001330696.1:c.-365_-364del, NM_001330696.1:c.-364dup, NM_001330696.1:c.-365_-364dup
    2.

    rs1491374996 has merged into rs10627992 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CACACACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
      Chromosome:
      3:29266976 (GRCh38)
      3:29308467 (GRCh37)
      Canonical SPDI:
      NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:29266964:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA
      Gene:
      RBMS3-AS3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ACACACACACACA=0./0 (ALFA)
      HGVS:
      NC_000003.12:g.29266966CA[5], NC_000003.12:g.29266966CA[6], NC_000003.12:g.29266966CA[8], NC_000003.12:g.29266966CA[9], NC_000003.12:g.29266966CA[10], NC_000003.12:g.29266966CA[11], NC_000003.12:g.29266966CA[12], NC_000003.12:g.29266966CA[13], NC_000003.12:g.29266966CA[14], NC_000003.12:g.29266966CA[15], NC_000003.12:g.29266966CA[16], NC_000003.12:g.29266966CA[18], NC_000003.12:g.29266966CA[19], NC_000003.12:g.29266966CA[20], NC_000003.12:g.29266966CA[21], NC_000003.12:g.29266966CA[22], NC_000003.12:g.29266966CA[23], NC_000003.12:g.29266966CA[24], NC_000003.12:g.29266966CA[25], NC_000003.12:g.29266966CA[26], NC_000003.12:g.29266966CA[27], NC_000003.11:g.29308457CA[5], NC_000003.11:g.29308457CA[6], NC_000003.11:g.29308457CA[8], NC_000003.11:g.29308457CA[9], NC_000003.11:g.29308457CA[10], NC_000003.11:g.29308457CA[11], NC_000003.11:g.29308457CA[12], NC_000003.11:g.29308457CA[13], NC_000003.11:g.29308457CA[14], NC_000003.11:g.29308457CA[15], NC_000003.11:g.29308457CA[16], NC_000003.11:g.29308457CA[18], NC_000003.11:g.29308457CA[19], NC_000003.11:g.29308457CA[20], NC_000003.11:g.29308457CA[21], NC_000003.11:g.29308457CA[22], NC_000003.11:g.29308457CA[23], NC_000003.11:g.29308457CA[24], NC_000003.11:g.29308457CA[25], NC_000003.11:g.29308457CA[26], NC_000003.11:g.29308457CA[27]
      3.

      rs1491202351 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->GTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        3:29280362 (GRCh38)
        3:29321854 (GRCh37)
        Canonical SPDI:
        NC_000003.12:29280362::GTTTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTTTTTT,NC_000003.12:29280362::TTTTTTTTTTTTTTTTTTTTTT
        Gene:
        RBMS3 (Varview), RBMS3-AS3 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTT=0./0 (ALFA)
        TTTTTTTTTTTTTTTT=0.00021/4 (TOMMO)
        HGVS:
        NC_000003.12:g.29280362_29280363insGTTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280362_29280363insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insGTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321853_29321854insTTTTTTTTTTTTTTTTTTTTTT
        4.

        rs1491119486 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GC [Show Flanks]
          Chromosome:
          3:29266965 (GRCh38)
          3:29308457 (GRCh37)
          Canonical SPDI:
          NC_000003.12:29266965:C:CGC
          Gene:
          RBMS3-AS3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          CGC=0./0 (ALFA)
          CG=0.00082/4 (GnomAD)
          HGVS:
          5.

          rs1491055496 has merged into rs537903100 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTGGGTAATTGGAGGTTTTTTTAAAAATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCAAAATGTATTTTTTTTTTAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTCTAAATTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCATTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            3:29280375 (GRCh38)
            3:29321866 (GRCh37)
            Canonical SPDI:
            NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTAATTGGAGGTTTTTTTAAAAATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAAAATGTATTTTTTTTTTAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAAATTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:29280363:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            RBMS3 (Varview), RBMS3-AS3 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTT=0./0 (ALFA)
            -=0./0 (GENOME_DK)
            -=0.000008/2 (TOPMED)
            -=0.417931/2093 (1000Genomes)
            HGVS:
            NC_000003.12:g.29280375_29280383del, NC_000003.12:g.29280377_29280383del, NC_000003.12:g.29280378_29280383del, NC_000003.12:g.29280379_29280383del, NC_000003.12:g.29280380_29280383del, NC_000003.12:g.29280381_29280383del, NC_000003.12:g.29280382_29280383del, NC_000003.12:g.29280383del, NC_000003.12:g.29280383dup, NC_000003.12:g.29280382_29280383dup, NC_000003.12:g.29280381_29280383dup, NC_000003.12:g.29280380_29280383dup, NC_000003.12:g.29280379_29280383dup, NC_000003.12:g.29280378_29280383dup, NC_000003.12:g.29280377_29280383dup, NC_000003.12:g.29280376_29280383dup, NC_000003.12:g.29280375_29280383dup, NC_000003.12:g.29280374_29280383dup, NC_000003.12:g.29280373_29280383dup, NC_000003.12:g.29280372_29280383dup, NC_000003.12:g.29280371_29280383dup, NC_000003.12:g.29280370_29280383dup, NC_000003.12:g.29280369_29280383dup, NC_000003.12:g.29280364_29280383T[35]GGGTAATTGGAGGTTTTTTTAAAAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280368_29280383dup, NC_000003.12:g.29280367_29280383dup, NC_000003.12:g.29280364_29280383T[37]CAAAATGTATTTTTTTTTTAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280364_29280383T[37]CTAAATTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280364_29280383T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280366_29280383dup, NC_000003.12:g.29280364_29280383T[38]CATTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280364_29280383T[38]CTAGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280365_29280383dup, NC_000003.12:g.29280364_29280383dup, NC_000003.12:g.29280364_29280383T[40]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280364_29280383T[45]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280364_29280383T[48]GTTTT[2]T[39], NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.29280383_29280384insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321866_29321874del, NC_000003.11:g.29321868_29321874del, NC_000003.11:g.29321869_29321874del, NC_000003.11:g.29321870_29321874del, NC_000003.11:g.29321871_29321874del, NC_000003.11:g.29321872_29321874del, NC_000003.11:g.29321873_29321874del, NC_000003.11:g.29321874del, NC_000003.11:g.29321874dup, NC_000003.11:g.29321873_29321874dup, NC_000003.11:g.29321872_29321874dup, NC_000003.11:g.29321871_29321874dup, NC_000003.11:g.29321870_29321874dup, NC_000003.11:g.29321869_29321874dup, NC_000003.11:g.29321868_29321874dup, NC_000003.11:g.29321867_29321874dup, NC_000003.11:g.29321866_29321874dup, NC_000003.11:g.29321865_29321874dup, NC_000003.11:g.29321864_29321874dup, NC_000003.11:g.29321863_29321874dup, NC_000003.11:g.29321862_29321874dup, NC_000003.11:g.29321861_29321874dup, NC_000003.11:g.29321860_29321874dup, NC_000003.11:g.29321855_29321874T[35]GGGTAATTGGAGGTTTTTTTAAAAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321859_29321874dup, NC_000003.11:g.29321858_29321874dup, NC_000003.11:g.29321855_29321874T[37]CAAAATGTATTTTTTTTTTAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321855_29321874T[37]CTAAATTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321855_29321874T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321857_29321874dup, NC_000003.11:g.29321855_29321874T[38]CATTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321855_29321874T[38]CTAGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321856_29321874dup, NC_000003.11:g.29321855_29321874dup, NC_000003.11:g.29321855_29321874T[40]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321855_29321874T[45]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321855_29321874T[48]GTTTT[2]T[39], NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.29321874_29321875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            6.

            rs1491005751 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TA>- [Show Flanks]
              Chromosome:
              3:29267000 (GRCh38)
              3:29308491 (GRCh37)
              Canonical SPDI:
              NC_000003.12:29266998:ATA:A
              Gene:
              RBMS3-AS3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.005817/69 (ALFA)
              -=0.000142/2 (TOMMO)
              -=0.006689/900 (GnomAD)
              HGVS:
              7.

              rs1490924108 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                3:29271656 (GRCh38)
                3:29313147 (GRCh37)
                Canonical SPDI:
                NC_000003.12:29271655:C:T
                Gene:
                RBMS3-AS3 (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:
                8.

                rs1490641474 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  3:29264199 (GRCh38)
                  3:29305690 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:29264198:G:C
                  Gene:
                  RBMS3-AS3 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490073426 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:29279926 (GRCh38)
                    3:29321417 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:29279925:A:G
                    Gene:
                    RBMS3 (Varview), RBMS3-AS3 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489910719 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      3:29279458 (GRCh38)
                      3:29320949 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:29279457:A:T
                      Gene:
                      RBMS3 (Varview), RBMS3-AS3 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1489875036 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        3:29274864 (GRCh38)
                        3:29316355 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:29274863:C:T
                        Gene:
                        RBMS3-AS3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.00016/1 (1000Genomes)
                        HGVS:
                        12.

                        rs1489778114 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          3:29272094 (GRCh38)
                          3:29313585 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:29272093:T:C
                          Gene:
                          RBMS3-AS3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1489615658 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            3:29280611 (GRCh38)
                            3:29322102 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:29280610:TTTTTT:TTTTT
                            Gene:
                            RBMS3 (Varview), RBMS3-AS3 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TTTTT=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1489579352 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:29279496 (GRCh38)
                              3:29320987 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:29279495:A:G
                              Gene:
                              RBMS3 (Varview), RBMS3-AS3 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489473365 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                3:29269875 (GRCh38)
                                3:29311366 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:29269874:G:
                                Gene:
                                RBMS3-AS3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000007/1 (GnomAD)
                                -=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1489060226 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:29277114 (GRCh38)
                                  3:29318605 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:29277113:G:A
                                  Gene:
                                  RBMS3-AS3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1488975828 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    3:29277234 (GRCh38)
                                    3:29318725 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:29277233:G:A,NC_000003.12:29277233:G:T
                                    Gene:
                                    RBMS3-AS3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488804335 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      3:29280813 (GRCh38)
                                      3:29322304 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:29280812:G:A,NC_000003.12:29280812:G:T
                                      Gene:
                                      RBMS3 (Varview), RBMS3-AS3 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1488763038 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        3:29277771 (GRCh38)
                                        3:29319262 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:29277770:T:C,NC_000003.12:29277770:T:G
                                        Gene:
                                        RBMS3-AS3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1488652599 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          3:29276826 (GRCh38)
                                          3:29318317 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:29276825:G:C
                                          Gene:
                                          RBMS3-AS3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:

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