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Items: 1 to 20 of 6148

1.

rs1491576344 has merged into rs71121782 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    1:169463676 (GRCh38)
    1:169432914 (GRCh37)
    Canonical SPDI:
    NC_000001.11:169463663:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:169463663:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:169463663:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:169463663:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:169463663:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:169463663:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:169463663:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:169463663:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:169463663:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169463663:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169463663:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    SLC19A2 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAA=0./0 (ALFA)
    AA=0.4824/2416 (1000Genomes)
    HGVS:
    NC_000001.11:g.169463676_169463680del, NC_000001.11:g.169463677_169463680del, NC_000001.11:g.169463678_169463680del, NC_000001.11:g.169463679_169463680del, NC_000001.11:g.169463680del, NC_000001.11:g.169463680dup, NC_000001.11:g.169463679_169463680dup, NC_000001.11:g.169463678_169463680dup, NC_000001.11:g.169463676_169463680dup, NC_000001.11:g.169463673_169463680dup, NC_000001.11:g.169463669_169463680dup, NC_000001.10:g.169432914_169432918del, NC_000001.10:g.169432915_169432918del, NC_000001.10:g.169432916_169432918del, NC_000001.10:g.169432917_169432918del, NC_000001.10:g.169432918del, NC_000001.10:g.169432918dup, NC_000001.10:g.169432917_169432918dup, NC_000001.10:g.169432916_169432918dup, NC_000001.10:g.169432914_169432918dup, NC_000001.10:g.169432911_169432918dup, NC_000001.10:g.169432907_169432918dup, NG_008255.1:g.27303_27307del, NG_008255.1:g.27304_27307del, NG_008255.1:g.27305_27307del, NG_008255.1:g.27306_27307del, NG_008255.1:g.27307del, NG_008255.1:g.27307dup, NG_008255.1:g.27306_27307dup, NG_008255.1:g.27305_27307dup, NG_008255.1:g.27303_27307dup, NG_008255.1:g.27300_27307dup, NG_008255.1:g.27296_27307dup
    2.

    rs1491562715 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      1:169478524 (GRCh38)
      1:169447763 (GRCh37)
      Canonical SPDI:
      NC_000001.11:169478524::A
      Gene:
      SLC19A2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.0011/13 (ALFA)
      A=0.00782/313 (GnomAD)
      HGVS:
      3.

      rs1491393812 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        1:169490735 (GRCh38)
        1:169459973 (GRCh37)
        Canonical SPDI:
        NC_000001.11:169490734:CA:
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00042/5 (ALFA)
        -=0.00138/39 (TOMMO)
        HGVS:
        4.

        rs1491319669 has merged into rs35141285 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          1:169478535 (GRCh38)
          1:169447773 (GRCh37)
          Canonical SPDI:
          NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:169478523:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          SLC19A2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTT=0./0 (ALFA)
          -=0.3/12 (GENOME_DK)
          HGVS:
          NC_000001.11:g.169478535_169478552del, NC_000001.11:g.169478536_169478552del, NC_000001.11:g.169478537_169478552del, NC_000001.11:g.169478538_169478552del, NC_000001.11:g.169478539_169478552del, NC_000001.11:g.169478540_169478552del, NC_000001.11:g.169478541_169478552del, NC_000001.11:g.169478542_169478552del, NC_000001.11:g.169478543_169478552del, NC_000001.11:g.169478544_169478552del, NC_000001.11:g.169478545_169478552del, NC_000001.11:g.169478546_169478552del, NC_000001.11:g.169478547_169478552del, NC_000001.11:g.169478548_169478552del, NC_000001.11:g.169478549_169478552del, NC_000001.11:g.169478550_169478552del, NC_000001.11:g.169478551_169478552del, NC_000001.11:g.169478552del, NC_000001.11:g.169478552dup, NC_000001.11:g.169478551_169478552dup, NC_000001.11:g.169478550_169478552dup, NC_000001.11:g.169478549_169478552dup, NC_000001.11:g.169478548_169478552dup, NC_000001.11:g.169478547_169478552dup, NC_000001.11:g.169478545_169478552dup, NC_000001.11:g.169478544_169478552dup, NC_000001.11:g.169478536_169478552dup, NC_000001.10:g.169447773_169447790del, NC_000001.10:g.169447774_169447790del, NC_000001.10:g.169447775_169447790del, NC_000001.10:g.169447776_169447790del, NC_000001.10:g.169447777_169447790del, NC_000001.10:g.169447778_169447790del, NC_000001.10:g.169447779_169447790del, NC_000001.10:g.169447780_169447790del, NC_000001.10:g.169447781_169447790del, NC_000001.10:g.169447782_169447790del, NC_000001.10:g.169447783_169447790del, NC_000001.10:g.169447784_169447790del, NC_000001.10:g.169447785_169447790del, NC_000001.10:g.169447786_169447790del, NC_000001.10:g.169447787_169447790del, NC_000001.10:g.169447788_169447790del, NC_000001.10:g.169447789_169447790del, NC_000001.10:g.169447790del, NC_000001.10:g.169447790dup, NC_000001.10:g.169447789_169447790dup, NC_000001.10:g.169447788_169447790dup, NC_000001.10:g.169447787_169447790dup, NC_000001.10:g.169447786_169447790dup, NC_000001.10:g.169447785_169447790dup, NC_000001.10:g.169447783_169447790dup, NC_000001.10:g.169447782_169447790dup, NC_000001.10:g.169447774_169447790dup, NG_008255.1:g.12430_12447del, NG_008255.1:g.12431_12447del, NG_008255.1:g.12432_12447del, NG_008255.1:g.12433_12447del, NG_008255.1:g.12434_12447del, NG_008255.1:g.12435_12447del, NG_008255.1:g.12436_12447del, NG_008255.1:g.12437_12447del, NG_008255.1:g.12438_12447del, NG_008255.1:g.12439_12447del, NG_008255.1:g.12440_12447del, NG_008255.1:g.12441_12447del, NG_008255.1:g.12442_12447del, NG_008255.1:g.12443_12447del, NG_008255.1:g.12444_12447del, NG_008255.1:g.12445_12447del, NG_008255.1:g.12446_12447del, NG_008255.1:g.12447del, NG_008255.1:g.12447dup, NG_008255.1:g.12446_12447dup, NG_008255.1:g.12445_12447dup, NG_008255.1:g.12444_12447dup, NG_008255.1:g.12443_12447dup, NG_008255.1:g.12442_12447dup, NG_008255.1:g.12440_12447dup, NG_008255.1:g.12439_12447dup, NG_008255.1:g.12431_12447dup
          5.

          rs1491314902 has merged into rs34688678 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTT [Show Flanks]
            Chromosome:
            1:169473423 (GRCh38)
            1:169442661 (GRCh37)
            Canonical SPDI:
            NC_000001.11:169473409:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:169473409:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:169473409:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:169473409:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:169473409:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:169473409:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            SLC19A2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
            -=0.401/239 (NorthernSweden)
            -=0.4325/2166 (1000Genomes)
            -=0.475/19 (GENOME_DK)
            HGVS:
            6.

            rs1491312480 has merged into rs57420387 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              1:169490745 (GRCh38)
              1:169459983 (GRCh37)
              Canonical SPDI:
              NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169490735:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAA=0./0 (ALFA)
              HGVS:
              NC_000001.11:g.169490745_169490758del, NC_000001.11:g.169490747_169490758del, NC_000001.11:g.169490748_169490758del, NC_000001.11:g.169490749_169490758del, NC_000001.11:g.169490750_169490758del, NC_000001.11:g.169490751_169490758del, NC_000001.11:g.169490752_169490758del, NC_000001.11:g.169490753_169490758del, NC_000001.11:g.169490754_169490758del, NC_000001.11:g.169490755_169490758del, NC_000001.11:g.169490756_169490758del, NC_000001.11:g.169490757_169490758del, NC_000001.11:g.169490758del, NC_000001.11:g.169490758dup, NC_000001.11:g.169490757_169490758dup, NC_000001.11:g.169490756_169490758dup, NC_000001.11:g.169490755_169490758dup, NC_000001.11:g.169490754_169490758dup, NC_000001.11:g.169490738_169490758dup, NC_000001.10:g.169459983_169459996del, NC_000001.10:g.169459985_169459996del, NC_000001.10:g.169459986_169459996del, NC_000001.10:g.169459987_169459996del, NC_000001.10:g.169459988_169459996del, NC_000001.10:g.169459989_169459996del, NC_000001.10:g.169459990_169459996del, NC_000001.10:g.169459991_169459996del, NC_000001.10:g.169459992_169459996del, NC_000001.10:g.169459993_169459996del, NC_000001.10:g.169459994_169459996del, NC_000001.10:g.169459995_169459996del, NC_000001.10:g.169459996del, NC_000001.10:g.169459996dup, NC_000001.10:g.169459995_169459996dup, NC_000001.10:g.169459994_169459996dup, NC_000001.10:g.169459993_169459996dup, NC_000001.10:g.169459992_169459996dup, NC_000001.10:g.169459976_169459996dup, NG_008255.1:g.222_235del, NG_008255.1:g.224_235del, NG_008255.1:g.225_235del, NG_008255.1:g.226_235del, NG_008255.1:g.227_235del, NG_008255.1:g.228_235del, NG_008255.1:g.229_235del, NG_008255.1:g.230_235del, NG_008255.1:g.231_235del, NG_008255.1:g.232_235del, NG_008255.1:g.233_235del, NG_008255.1:g.234_235del, NG_008255.1:g.235del, NG_008255.1:g.235dup, NG_008255.1:g.234_235dup, NG_008255.1:g.233_235dup, NG_008255.1:g.232_235dup, NG_008255.1:g.231_235dup, NG_008255.1:g.215_235dup
              7.

              rs1491297150 has merged into rs1553212203 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TATATA>-,TA,TATA,TATATATA,TATATATATA [Show Flanks]
                Chromosome:
                1:169471701 (GRCh38)
                1:169440939 (GRCh37)
                Canonical SPDI:
                NC_000001.11:169471698:TATATATA:TA,NC_000001.11:169471698:TATATATA:TATA,NC_000001.11:169471698:TATATATA:TATATA,NC_000001.11:169471698:TATATATA:TATATATATA,NC_000001.11:169471698:TATATATA:TATATATATATA
                Gene:
                SLC19A2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TATATATATA=0./0 (ALFA)
                HGVS:
                8.

                rs1491074224 has merged into rs34821464 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  1:169471072 (GRCh38)
                  1:169440310 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:169471060:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:169471060:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:169471060:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:169471060:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:169471060:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:169471060:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:169471060:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:169471060:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  SLC19A2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAAA=0./0 (ALFA)
                  -=0.2174/793 (1000Genomes)
                  HGVS:
                  NC_000001.11:g.169471072_169471074del, NC_000001.11:g.169471073_169471074del, NC_000001.11:g.169471074del, NC_000001.11:g.169471074dup, NC_000001.11:g.169471073_169471074dup, NC_000001.11:g.169471072_169471074dup, NC_000001.11:g.169471064_169471074dup, NC_000001.11:g.169471074_169471075insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.169440310_169440312del, NC_000001.10:g.169440311_169440312del, NC_000001.10:g.169440312del, NC_000001.10:g.169440312dup, NC_000001.10:g.169440311_169440312dup, NC_000001.10:g.169440310_169440312dup, NC_000001.10:g.169440302_169440312dup, NC_000001.10:g.169440312_169440313insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008255.1:g.19908_19910del, NG_008255.1:g.19909_19910del, NG_008255.1:g.19910del, NG_008255.1:g.19910dup, NG_008255.1:g.19909_19910dup, NG_008255.1:g.19908_19910dup, NG_008255.1:g.19900_19910dup, NG_008255.1:g.19910_19911insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  9.

                  rs1491048208 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    1:169463681 (GRCh38)
                    1:169432919 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:169463679:ACA:A
                    Gene:
                    SLC19A2 (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.00135/16 (ALFA)
                    -=0.00127/21 (TOMMO)
                    HGVS:
                    10.

                    rs1490869159 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      1:169485245 (GRCh38)
                      1:169454483 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:169485244:CCCCC:CCCC
                      Gene:
                      SLC19A2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CCCC=0./0 (ALFA)
                      -=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1490832712 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        1:169476644 (GRCh38)
                        1:169445883 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:169476644:T:TT
                        Gene:
                        SLC19A2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TT=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1490832268 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          1:169485643 (GRCh38)
                          1:169454881 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:169485642:A:C
                          Gene:
                          SLC19A2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000006/1 (GnomAD_exomes)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490735541 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:169474435 (GRCh38)
                            1:169443673 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:169474434:G:A
                            Gene:
                            SLC19A2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000054/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            A=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1490629638 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              1:169468322 (GRCh38)
                              1:169437560 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:169468321:AAAA:AAA
                              Gene:
                              SLC19A2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAA=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              -=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1490339434 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                1:169466070 (GRCh38)
                                1:169435308 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:169466069:A:G,NC_000001.11:169466069:A:T
                                Gene:
                                SLC19A2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490282687 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:169464642 (GRCh38)
                                  1:169433880 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:169464641:T:C
                                  Gene:
                                  SLC19A2 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1490007887 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:169490715 (GRCh38)
                                    1:169459953 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:169490714:C:G
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/1 (GnomAD)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489811593 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      1:169482944 (GRCh38)
                                      1:169452182 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:169482943:G:C
                                      Gene:
                                      SLC19A2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000342/1 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1489596710 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        1:169470114 (GRCh38)
                                        1:169439352 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:169470113:G:C
                                        Gene:
                                        SLC19A2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1489540691 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          1:169482113 (GRCh38)
                                          1:169451351 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:169482112:A:C
                                          Gene:
                                          SLC19A2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000224/1 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000223/1 (Estonian)
                                          HGVS:

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