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Items: 1 to 20 of 1107

1.

rs1489199078 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:48920163 (GRCh38)
    3:48957596 (GRCh37)
    Canonical SPDI:
    NC_000003.12:48920162:T:C
    Gene:
    ARIH2 (Varview), ARIH2OS (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000071/1 (ALFA)
    C=0.000008/2 (TOPMED)
    C=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1489043824 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:48920777 (GRCh38)
      3:48958210 (GRCh37)
      Canonical SPDI:
      NC_000003.12:48920776:C:T
      Gene:
      ARIH2 (Varview), ARIH2OS (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.00002/1 (GnomAD)
      HGVS:
      3.

      rs1488632322 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        3:48917724 (GRCh38)
        3:48955157 (GRCh37)
        Canonical SPDI:
        NC_000003.12:48917723:C:T
        Gene:
        ARIH2 (Varview), ARIH2OS (Varview)
        Functional Consequence:
        upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1488450356 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:48920493 (GRCh38)
          3:48957926 (GRCh37)
          Canonical SPDI:
          NC_000003.12:48920492:T:C
          Gene:
          ARIH2 (Varview), ARIH2OS (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
          HGVS:
          5.

          rs1487726373 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            3:48918909 (GRCh38)
            3:48956342 (GRCh37)
            Canonical SPDI:
            NC_000003.12:48918908:G:C,NC_000003.12:48918908:G:T
            Gene:
            ARIH2 (Varview), ARIH2OS (Varview)
            Functional Consequence:
            non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            T=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.48918909G>C, NC_000003.12:g.48918909G>T, NC_000003.11:g.48956342G>C, NC_000003.11:g.48956342G>T, NM_006321.4:c.-251G>C, NM_006321.4:c.-251G>T, NM_006321.3:c.-251G>C, NM_006321.3:c.-251G>T, NM_006321.2:c.-251G>C, NM_006321.2:c.-251G>T, XM_024453309.2:c.-2995G>C, XM_024453309.2:c.-2995G>T, XM_024453309.1:c.-2995G>C, XM_024453309.1:c.-2995G>T, NR_146084.2:n.68G>C, NR_146084.2:n.68G>T, NR_146084.1:n.90G>C, NR_146084.1:n.90G>T, NM_001349220.2:c.-789G>C, NM_001349220.2:c.-789G>T, NM_001349220.1:c.-789G>C, NM_001349220.1:c.-789G>T, NR_146082.2:n.68G>C, NR_146082.2:n.68G>T, NR_146082.1:n.90G>C, NR_146082.1:n.90G>T, NM_001349210.2:c.-493G>C, NM_001349210.2:c.-493G>T, NM_001349210.1:c.-493G>C, NM_001349210.1:c.-493G>T, NM_001349225.2:c.-702G>C, NM_001349225.2:c.-702G>T, NM_001349225.1:c.-702G>C, NM_001349225.1:c.-702G>T, NM_001349213.2:c.-373G>C, NM_001349213.2:c.-373G>T, NM_001349213.1:c.-373G>C, NM_001349213.1:c.-373G>T, NR_146083.2:n.68G>C, NR_146083.2:n.68G>T, NR_146083.1:n.90G>C, NR_146083.1:n.90G>T, NM_001349222.2:c.-638G>C, NM_001349222.2:c.-638G>T, NM_001349222.1:c.-638G>C, NM_001349222.1:c.-638G>T, NM_001317333.2:c.-373G>C, NM_001317333.2:c.-373G>T, NM_001317333.1:c.-373G>C, NM_001317333.1:c.-373G>T, NM_001349216.2:c.-513G>C, NM_001349216.2:c.-513G>T, NM_001349216.1:c.-513G>C, NM_001349216.1:c.-513G>T, NM_001349219.2:c.-571G>C, NM_001349219.2:c.-571G>T, NM_001349219.1:c.-571G>C, NM_001349219.1:c.-571G>T, NM_001349223.2:c.-580G>C, NM_001349223.2:c.-580G>T, NM_001349223.1:c.-580G>C, NM_001349223.1:c.-580G>T, NM_001349214.2:c.-251G>C, NM_001349214.2:c.-251G>T, NM_001349214.1:c.-251G>C, NM_001349214.1:c.-251G>T, NM_001349209.2:c.-309G>C, NM_001349209.2:c.-309G>T, NM_001349209.1:c.-309G>C, NM_001349209.1:c.-309G>T, NM_001349217.2:c.-513G>C, NM_001349217.2:c.-513G>T, NM_001349217.1:c.-513G>C, NM_001349217.1:c.-513G>T, NM_001349215.2:c.-251G>C, NM_001349215.2:c.-251G>T, NM_001349215.1:c.-251G>C, NM_001349215.1:c.-251G>T, XM_011533268.2:c.-187G>C, XM_011533268.2:c.-187G>T, XM_011533268.1:c.-187G>C, XM_011533268.1:c.-187G>T, NM_001349218.2:c.-449G>C, NM_001349218.2:c.-449G>T, NM_001349218.1:c.-449G>C, NM_001349218.1:c.-449G>T, NM_001349211.2:c.-187G>C, NM_001349211.2:c.-187G>T, NM_001349211.1:c.-187G>C, NM_001349211.1:c.-187G>T, NM_001349227.2:c.-611G>C, NM_001349227.2:c.-611G>T, NM_001349227.1:c.-611G>C, NM_001349227.1:c.-611G>T, NR_146085.2:n.68G>C, NR_146085.2:n.68G>T, NR_146085.1:n.90G>C, NR_146085.1:n.90G>T, XM_011533271.2:c.-161G>C, XM_011533271.2:c.-161G>T, XM_011533271.1:c.-161G>C, XM_011533271.1:c.-161G>T, XM_017005534.2:c.-97G>C, XM_017005534.2:c.-97G>T, XM_017005534.1:c.-97G>C, XM_017005534.1:c.-97G>T, NM_001349221.2:c.-161G>C, NM_001349221.2:c.-161G>T, NM_001349221.1:c.-161G>C, NM_001349221.1:c.-161G>T, NM_001349224.2:c.-182G>C, NM_001349224.2:c.-182G>T, NM_001349224.1:c.-182G>C, NM_001349224.1:c.-182G>T, NM_001349226.2:c.-164G>C, NM_001349226.2:c.-164G>T, NM_001349226.1:c.-164G>C, NM_001349226.1:c.-164G>T, XM_024453311.2:c.-261G>C, XM_024453311.2:c.-261G>T, XM_024453311.1:c.-261G>C, XM_024453311.1:c.-261G>T, NM_001349212.2:c.-325G>C, NM_001349212.2:c.-325G>T, NM_001349212.1:c.-325G>C, NM_001349212.1:c.-325G>T, NM_001317334.2:c.-261G>C, NM_001317334.2:c.-261G>T, NM_001317334.1:c.-261G>C, NM_001317334.1:c.-261G>T, NM_001349230.2:c.-493G>C, NM_001349230.2:c.-493G>T, NM_001349230.1:c.-493G>C, NM_001349230.1:c.-493G>T, NM_001349228.2:c.-373G>C, NM_001349228.2:c.-373G>T, NM_001349228.1:c.-373G>C, NM_001349228.1:c.-373G>T, NM_001349229.2:c.-251G>C, NM_001349229.2:c.-251G>T, NM_001349229.1:c.-251G>C, NM_001349229.1:c.-251G>T, XM_047447278.1:c.-228G>C, XM_047447278.1:c.-228G>T, XM_047447283.1:c.-164G>C, XM_047447283.1:c.-164G>T, XM_047447284.1:c.-97G>C, XM_047447284.1:c.-97G>T, NR_161301.1:n.477C>G, NR_161301.1:n.477C>A, NM_001123040.1:c.241C>G, NM_001123040.1:c.241C>A
            6.

            rs1487663636 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CTCT>- [Show Flanks]
              Chromosome:
              3:48921357 (GRCh38)
              3:48958790 (GRCh37)
              Canonical SPDI:
              NC_000003.12:48921351:TCTCTCTCT:TCTCT
              Gene:
              ARIH2 (Varview), ARIH2OS (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TCTCT=0./0 (ALFA)
              -=0.000008/1 (GnomAD)
              HGVS:
              7.

              rs1485669855 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:48918813 (GRCh38)
                3:48956246 (GRCh37)
                Canonical SPDI:
                NC_000003.12:48918812:G:A
                Gene:
                ARIH2 (Varview), ARIH2OS (Varview)
                Functional Consequence:
                non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by cluster
                HGVS:
                8.

                rs1485631618 has merged into rs1242750147 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  3:48920504 (GRCh38)
                  3:48957937 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48920492:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  ARIH2 (Varview), ARIH2OS (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTT=0./0 (ALFA)
                  HGVS:
                  NC_000003.12:g.48920504_48920511del, NC_000003.12:g.48920505_48920511del, NC_000003.12:g.48920506_48920511del, NC_000003.12:g.48920507_48920511del, NC_000003.12:g.48920508_48920511del, NC_000003.12:g.48920509_48920511del, NC_000003.12:g.48920510_48920511del, NC_000003.12:g.48920511del, NC_000003.12:g.48920511dup, NC_000003.12:g.48920510_48920511dup, NC_000003.12:g.48920509_48920511dup, NC_000003.12:g.48920508_48920511dup, NC_000003.12:g.48920502_48920511dup, NC_000003.11:g.48957937_48957944del, NC_000003.11:g.48957938_48957944del, NC_000003.11:g.48957939_48957944del, NC_000003.11:g.48957940_48957944del, NC_000003.11:g.48957941_48957944del, NC_000003.11:g.48957942_48957944del, NC_000003.11:g.48957943_48957944del, NC_000003.11:g.48957944del, NC_000003.11:g.48957944dup, NC_000003.11:g.48957943_48957944dup, NC_000003.11:g.48957942_48957944dup, NC_000003.11:g.48957941_48957944dup, NC_000003.11:g.48957935_48957944dup
                  9.

                  rs1485417149 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    3:48920523 (GRCh38)
                    3:48957956 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:48920522:T:G
                    Gene:
                    ARIH2 (Varview), ARIH2OS (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1484812585 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      3:48918777 (GRCh38)
                      3:48956210 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:48918776:T:C,NC_000003.12:48918776:T:G
                      Gene:
                      ARIH2 (Varview), ARIH2OS (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      C=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1484215890 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        3:48921030 (GRCh38)
                        3:48958463 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:48921029:C:G
                        Gene:
                        ARIH2 (Varview), ARIH2OS (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.00001/1 (GnomAD)
                        HGVS:
                        12.

                        rs1484082776 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          3:48918066 (GRCh38)
                          3:48955499 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:48918065:A:C,NC_000003.12:48918065:A:G
                          Gene:
                          ARIH2 (Varview), ARIH2OS (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1482642227 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:48919577 (GRCh38)
                            3:48957010 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:48919576:C:T
                            Gene:
                            ARIH2 (Varview), ARIH2OS (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1481973246 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:48920087 (GRCh38)
                              3:48957520 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:48920086:C:T
                              Gene:
                              ARIH2 (Varview), ARIH2OS (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1480474095 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GCCCCTAGGGATGTGCGGC>- [Show Flanks]
                                Chromosome:
                                3:48919440 (GRCh38)
                                3:48956873 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:48919434:GCGGCGCCCCTAGGGATGTGCGGC:GCGGC
                                Gene:
                                ARIH2 (Varview), ARIH2OS (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GCGGC=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1480013062 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:48921136 (GRCh38)
                                  3:48958569 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:48921135:T:C
                                  Gene:
                                  ARIH2 (Varview), ARIH2OS (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.00001/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1479889337 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    3:48918900 (GRCh38)
                                    3:48956333 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:48918899:G:A,NC_000003.12:48918899:G:C
                                    Gene:
                                    ARIH2 (Varview), ARIH2OS (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000057/2 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.48918900G>A, NC_000003.12:g.48918900G>C, NC_000003.11:g.48956333G>A, NC_000003.11:g.48956333G>C, NM_006321.4:c.-260G>A, NM_006321.4:c.-260G>C, NM_006321.3:c.-260G>A, NM_006321.3:c.-260G>C, NM_006321.2:c.-260G>A, NM_006321.2:c.-260G>C, XM_024453309.2:c.-3004G>A, XM_024453309.2:c.-3004G>C, XM_024453309.1:c.-3004G>A, XM_024453309.1:c.-3004G>C, NR_146084.2:n.59G>A, NR_146084.2:n.59G>C, NR_146084.1:n.81G>A, NR_146084.1:n.81G>C, NM_001349220.2:c.-798G>A, NM_001349220.2:c.-798G>C, NM_001349220.1:c.-798G>A, NM_001349220.1:c.-798G>C, NR_146082.2:n.59G>A, NR_146082.2:n.59G>C, NR_146082.1:n.81G>A, NR_146082.1:n.81G>C, NM_001349210.2:c.-502G>A, NM_001349210.2:c.-502G>C, NM_001349210.1:c.-502G>A, NM_001349210.1:c.-502G>C, NM_001349225.2:c.-711G>A, NM_001349225.2:c.-711G>C, NM_001349225.1:c.-711G>A, NM_001349225.1:c.-711G>C, NM_001349213.2:c.-382G>A, NM_001349213.2:c.-382G>C, NM_001349213.1:c.-382G>A, NM_001349213.1:c.-382G>C, NR_146083.2:n.59G>A, NR_146083.2:n.59G>C, NR_146083.1:n.81G>A, NR_146083.1:n.81G>C, NM_001349222.2:c.-647G>A, NM_001349222.2:c.-647G>C, NM_001349222.1:c.-647G>A, NM_001349222.1:c.-647G>C, NM_001317333.2:c.-382G>A, NM_001317333.2:c.-382G>C, NM_001317333.1:c.-382G>A, NM_001317333.1:c.-382G>C, NM_001349216.2:c.-522G>A, NM_001349216.2:c.-522G>C, NM_001349216.1:c.-522G>A, NM_001349216.1:c.-522G>C, NM_001349219.2:c.-580G>A, NM_001349219.2:c.-580G>C, NM_001349219.1:c.-580G>A, NM_001349219.1:c.-580G>C, NM_001349223.2:c.-589G>A, NM_001349223.2:c.-589G>C, NM_001349223.1:c.-589G>A, NM_001349223.1:c.-589G>C, NM_001349214.2:c.-260G>A, NM_001349214.2:c.-260G>C, NM_001349214.1:c.-260G>A, NM_001349214.1:c.-260G>C, NM_001349209.2:c.-318G>A, NM_001349209.2:c.-318G>C, NM_001349209.1:c.-318G>A, NM_001349209.1:c.-318G>C, NM_001349217.2:c.-522G>A, NM_001349217.2:c.-522G>C, NM_001349217.1:c.-522G>A, NM_001349217.1:c.-522G>C, NM_001349215.2:c.-260G>A, NM_001349215.2:c.-260G>C, NM_001349215.1:c.-260G>A, NM_001349215.1:c.-260G>C, XM_011533268.2:c.-196G>A, XM_011533268.2:c.-196G>C, XM_011533268.1:c.-196G>A, XM_011533268.1:c.-196G>C, NM_001349218.2:c.-458G>A, NM_001349218.2:c.-458G>C, NM_001349218.1:c.-458G>A, NM_001349218.1:c.-458G>C, NM_001349211.2:c.-196G>A, NM_001349211.2:c.-196G>C, NM_001349211.1:c.-196G>A, NM_001349211.1:c.-196G>C, NM_001349227.2:c.-620G>A, NM_001349227.2:c.-620G>C, NM_001349227.1:c.-620G>A, NM_001349227.1:c.-620G>C, NR_146085.2:n.59G>A, NR_146085.2:n.59G>C, NR_146085.1:n.81G>A, NR_146085.1:n.81G>C, XM_011533271.2:c.-170G>A, XM_011533271.2:c.-170G>C, XM_011533271.1:c.-170G>A, XM_011533271.1:c.-170G>C, XM_017005534.2:c.-106G>A, XM_017005534.2:c.-106G>C, XM_017005534.1:c.-106G>A, XM_017005534.1:c.-106G>C, NM_001349221.2:c.-170G>A, NM_001349221.2:c.-170G>C, NM_001349221.1:c.-170G>A, NM_001349221.1:c.-170G>C, NM_001349224.2:c.-191G>A, NM_001349224.2:c.-191G>C, NM_001349224.1:c.-191G>A, NM_001349224.1:c.-191G>C, NM_001349226.2:c.-173G>A, NM_001349226.2:c.-173G>C, NM_001349226.1:c.-173G>A, NM_001349226.1:c.-173G>C, XM_024453311.2:c.-270G>A, XM_024453311.2:c.-270G>C, XM_024453311.1:c.-270G>A, XM_024453311.1:c.-270G>C, NM_001349212.2:c.-334G>A, NM_001349212.2:c.-334G>C, NM_001349212.1:c.-334G>A, NM_001349212.1:c.-334G>C, NM_001317334.2:c.-270G>A, NM_001317334.2:c.-270G>C, NM_001317334.1:c.-270G>A, NM_001317334.1:c.-270G>C, NM_001349230.2:c.-502G>A, NM_001349230.2:c.-502G>C, NM_001349230.1:c.-502G>A, NM_001349230.1:c.-502G>C, NM_001349228.2:c.-382G>A, NM_001349228.2:c.-382G>C, NM_001349228.1:c.-382G>A, NM_001349228.1:c.-382G>C, NM_001349229.2:c.-260G>A, NM_001349229.2:c.-260G>C, NM_001349229.1:c.-260G>A, NM_001349229.1:c.-260G>C, XM_047447278.1:c.-237G>A, XM_047447278.1:c.-237G>C, XM_047447283.1:c.-173G>A, XM_047447283.1:c.-173G>C, XM_047447284.1:c.-106G>A, XM_047447284.1:c.-106G>C, NR_161301.1:n.486C>T, NR_161301.1:n.486C>G, NM_001123040.1:c.250C>T, NM_001123040.1:c.250C>G
                                    18.

                                    rs1478748459 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:48918505 (GRCh38)
                                      3:48955938 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:48918504:A:G
                                      Gene:
                                      ARIH2 (Varview), ARIH2OS (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1478515766 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        3:48920257 (GRCh38)
                                        3:48957690 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:48920256:A:T
                                        Gene:
                                        ARIH2 (Varview), ARIH2OS (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1477619917 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:48919521 (GRCh38)
                                          3:48956954 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:48919520:T:C
                                          Gene:
                                          ARIH2 (Varview), ARIH2OS (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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