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Links from Protein

Items: 1 to 20 of 319

2.
3.

rs1482181154 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    4:87981511 (GRCh38)
    4:88902663 (GRCh37)
    Canonical SPDI:
    NC_000004.12:87981510:A:G
    Gene:
    SPP1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:
    4.

    rs1480749910 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      4:87981714 (GRCh38)
      4:88902866 (GRCh37)
      Canonical SPDI:
      NC_000004.12:87981713:A:G
      Gene:
      SPP1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      5.

      rs1479657428 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        4:87982683 (GRCh38)
        4:88903835 (GRCh37)
        Canonical SPDI:
        NC_000004.12:87982682:A:T
        Gene:
        SPP1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000021/3 (GnomAD)
        HGVS:
        7.

        rs1469084786 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          4:87981561 (GRCh38)
          4:88902713 (GRCh37)
          Canonical SPDI:
          NC_000004.12:87981560:C:T
          Gene:
          SPP1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          9.
          10.

          rs1460712381 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            4:87980108 (GRCh38)
            4:88901260 (GRCh37)
            Canonical SPDI:
            NC_000004.12:87980107:G:T
            Gene:
            SPP1 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            11.

            rs1459510314 has merged into rs1275350978 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTCACAGCCATGAA>-,TTTCACAGCCATGAATTTCACAGCCATGAA [Show Flanks]
              Chromosome:
              4:87982783 (GRCh38)
              4:88903935 (GRCh37)
              Canonical SPDI:
              NC_000004.12:87982770:CACAGCCATGAATTTCACAGCCATGAA:CACAGCCATGAA,NC_000004.12:87982770:CACAGCCATGAATTTCACAGCCATGAA:CACAGCCATGAATTTCACAGCCATGAATTTCACAGCCATGAA
              Gene:
              SPP1 (Varview)
              Functional Consequence:
              coding_sequence_variant,inframe_deletion,inframe_insertion
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CACAGCCATGAA=0.00007/1 (ALFA)
              HGVS:
              NC_000004.12:g.87982783_87982797del, NC_000004.12:g.87982783_87982797dup, NC_000004.11:g.88903935_88903949del, NC_000004.11:g.88903935_88903949dup, NG_030362.1:g.12134_12148del, NG_030362.1:g.12134_12148dup, NM_000582.3:c.790_804del, NM_000582.3:c.790_804dup, NM_000582.2:c.790_804del, NM_000582.2:c.790_804dup, NM_001251830.2:c.871_885del, NM_001251830.2:c.871_885dup, NM_001251830.1:c.871_885del, NM_001251830.1:c.871_885dup, NM_001040058.2:c.832_846del, NM_001040058.2:c.832_846dup, NM_001040058.1:c.832_846del, NM_001040058.1:c.832_846dup, NM_001040060.2:c.751_765del, NM_001040060.2:c.751_765dup, NM_001040060.1:c.751_765del, NM_001040060.1:c.751_765dup, NM_001251829.2:c.709_723del, NM_001251829.2:c.709_723dup, NM_001251829.1:c.709_723del, NM_001251829.1:c.709_723dup, NP_000573.1:p.259FHSHE[1], NP_000573.1:p.259FHSHE[3], NP_001238759.1:p.286FHSHE[1], NP_001238759.1:p.286FHSHE[3], NP_001035147.1:p.273FHSHE[1], NP_001035147.1:p.273FHSHE[3], NP_001035149.1:p.246FHSHE[1], NP_001035149.1:p.246FHSHE[3], NP_001238758.1:p.232FHSHE[1], NP_001238758.1:p.232FHSHE[3]
              12.
              13.

              rs1444082583 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                4:87981566 (GRCh38)
                4:88902718 (GRCh37)
                Canonical SPDI:
                NC_000004.12:87981565:T:C
                Gene:
                SPP1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.000007/1 (GnomAD)
                C=0.000012/3 (GnomAD_exomes)
                C=0.000546/1 (Korea1K)
                HGVS:
                14.

                rs1438647102 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  4:87982813 (GRCh38)
                  4:88903965 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:87982812:G:A
                  Gene:
                  SPP1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000015/4 (TOPMED)
                  A=0.000029/4 (GnomAD)
                  HGVS:
                  15.

                  rs1434002879 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    4:87982712 (GRCh38)
                    4:88903864 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:87982711:G:A
                    Gene:
                    SPP1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000106/3 (TOMMO)
                    HGVS:
                    16.
                    17.

                    rs1424641605 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:87981494 (GRCh38)
                      4:88902646 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:87981493:A:G
                      Gene:
                      SPP1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      18.

                      rs1418078561 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:87982597 (GRCh38)
                        4:88903749 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:87982596:G:A
                        Gene:
                        SPP1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        19.

                        rs1415896236 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          4:87982647 (GRCh38)
                          4:88903799 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:87982646:C:T
                          Gene:
                          SPP1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          20.

                          rs1415015268 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:87977079 (GRCh38)
                            4:88898231 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:87977078:A:G
                            Gene:
                            SPP1 (Varview)
                            Functional Consequence:
                            synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:

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