SNP Links for Protein (Select 29337286) - SNP

Links from Protein

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Select item 14903627481.

rs1490362748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:36040314 (GRCh38)
1:36505915 (GRCh37)
Canonical SPDI:: NC_000001.11:36040313:A:G
Gene:: AGO3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.36040314A>G, NC_000001.10:g.36505915A>G, XM_005270576.5:c.1220A>G, XM_005270576.4:c.1220A>G, XM_005270576.3:c.1220A>G, XM_005270576.2:c.1220A>G, XM_005270576.1:c.1220A>G, XM_005270575.5:c.2045A>G, XM_005270575.4:c.2045A>G, XM_005270575.3:c.2045A>G, XM_005270575.2:c.2045A>G, XM_005270575.1:c.2045A>G, XM_011540879.4:c.2000A>G, XM_011540879.3:c.2000A>G, XM_011540879.2:c.2000A>G, XM_011540879.1:c.2000A>G, NM_024852.4:c.2045A>G, NM_024852.3:c.2045A>G, XM_017000524.3:c.1343A>G, XM_017000524.2:c.1343A>G, XM_017000524.1:c.1343A>G, XM_017000523.3:c.2045A>G, XM_017000523.2:c.2045A>G, XM_017000523.1:c.2045A>G, NM_177422.3:c.1343A>G, NM_177422.2:c.1343A>G, XM_017000526.3:c.1343A>G, XM_017000526.2:c.1343A>G, XM_017000526.1:c.1343A>G, XM_047448134.1:c.1343A>G, XP_005270633.1:p.Tyr407Cys, XP_005270632.1:p.Tyr682Cys, XP_011539181.1:p.Tyr667Cys, NP_079128.2:p.Tyr682Cys, XP_016856013.1:p.Tyr448Cys, XP_016856012.1:p.Tyr682Cys, NP_803171.1:p.Tyr448Cys, XP_016856015.1:p.Tyr448Cys, XP_047304090.1:p.Tyr448Cys

Select item 14818553212.

rs1481855321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:36039853 (GRCh38)
1:36505454 (GRCh37)
Canonical SPDI:: NC_000001.11:36039852:C:T
Gene:: AGO3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000001.11:g.36039853C>T, NC_000001.10:g.36505454C>T, XM_005270576.5:c.1081C>T, XM_005270576.4:c.1081C>T, XM_005270576.3:c.1081C>T, XM_005270576.2:c.1081C>T, XM_005270576.1:c.1081C>T, XM_005270575.5:c.1906C>T, XM_005270575.4:c.1906C>T, XM_005270575.3:c.1906C>T, XM_005270575.2:c.1906C>T, XM_005270575.1:c.1906C>T, XM_011540879.4:c.1861C>T, XM_011540879.3:c.1861C>T, XM_011540879.2:c.1861C>T, XM_011540879.1:c.1861C>T, NM_024852.4:c.1906C>T, NM_024852.3:c.1906C>T, XM_017000524.3:c.1204C>T, XM_017000524.2:c.1204C>T, XM_017000524.1:c.1204C>T, XM_017000523.3:c.1906C>T, XM_017000523.2:c.1906C>T, XM_017000523.1:c.1906C>T, NM_177422.3:c.1204C>T, NM_177422.2:c.1204C>T, XM_017000526.3:c.1204C>T, XM_017000526.2:c.1204C>T, XM_017000526.1:c.1204C>T, XM_047448134.1:c.1204C>T, XP_005270633.1:p.Arg361Ter, XP_005270632.1:p.Arg636Ter, XP_011539181.1:p.Arg621Ter, NP_079128.2:p.Arg636Ter, XP_016856013.1:p.Arg402Ter, XP_016856012.1:p.Arg636Ter, NP_803171.1:p.Arg402Ter, XP_016856015.1:p.Arg402Ter, XP_047304090.1:p.Arg402Ter

Select item 14805141253.

rs1480514125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:36039955 (GRCh38)
1:36505556 (GRCh37)
Canonical SPDI:: NC_000001.11:36039954:G:A
Gene:: AGO3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36039955G>A, NC_000001.10:g.36505556G>A, XM_005270576.5:c.1183G>A, XM_005270576.4:c.1183G>A, XM_005270576.3:c.1183G>A, XM_005270576.2:c.1183G>A, XM_005270576.1:c.1183G>A, XM_005270575.5:c.2008G>A, XM_005270575.4:c.2008G>A, XM_005270575.3:c.2008G>A, XM_005270575.2:c.2008G>A, XM_005270575.1:c.2008G>A, XM_011540879.4:c.1963G>A, XM_011540879.3:c.1963G>A, XM_011540879.2:c.1963G>A, XM_011540879.1:c.1963G>A, NM_024852.4:c.2008G>A, NM_024852.3:c.2008G>A, XM_017000524.3:c.1306G>A, XM_017000524.2:c.1306G>A, XM_017000524.1:c.1306G>A, XM_017000523.3:c.2008G>A, XM_017000523.2:c.2008G>A, XM_017000523.1:c.2008G>A, NM_177422.3:c.1306G>A, NM_177422.2:c.1306G>A, XM_017000526.3:c.1306G>A, XM_017000526.2:c.1306G>A, XM_017000526.1:c.1306G>A, XM_047448134.1:c.1306G>A, XP_005270633.1:p.Asp395Asn, XP_005270632.1:p.Asp670Asn, XP_011539181.1:p.Asp655Asn, NP_079128.2:p.Asp670Asn, XP_016856013.1:p.Asp436Asn, XP_016856012.1:p.Asp670Asn, NP_803171.1:p.Asp436Asn, XP_016856015.1:p.Asp436Asn, XP_047304090.1:p.Asp436Asn

Select item 14795291354.

rs1479529135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:36034235 (GRCh38)
1:36499836 (GRCh37)
Canonical SPDI:: NC_000001.11:36034234:G:A
Gene:: AGO3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36034235G>A, NC_000001.10:g.36499836G>A, NG_082020.1:g.43G>A, XM_005270576.5:c.828G>A, XM_005270576.4:c.828G>A, XM_005270576.3:c.828G>A, XM_005270576.2:c.828G>A, XM_005270576.1:c.828G>A, XM_005270575.5:c.1653G>A, XM_005270575.4:c.1653G>A, XM_005270575.3:c.1653G>A, XM_005270575.2:c.1653G>A, XM_005270575.1:c.1653G>A, XM_011540879.4:c.1608G>A, XM_011540879.3:c.1608G>A, XM_011540879.2:c.1608G>A, XM_011540879.1:c.1608G>A, NM_024852.4:c.1653G>A, NM_024852.3:c.1653G>A, XM_017000524.3:c.951G>A, XM_017000524.2:c.951G>A, XM_017000524.1:c.951G>A, XM_017000523.3:c.1653G>A, XM_017000523.2:c.1653G>A, XM_017000523.1:c.1653G>A, NM_177422.3:c.951G>A, NM_177422.2:c.951G>A, XM_017000526.3:c.951G>A, XM_017000526.2:c.951G>A, XM_017000526.1:c.951G>A, XM_047448134.1:c.951G>A

Select item 14789853495.

rs1478985349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:36008968 (GRCh38)
1:36474569 (GRCh37)
Canonical SPDI:: NC_000001.11:36008967:C:G
Gene:: AGO3 (Varview), LOC105378647 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36008968C>G, NC_000001.10:g.36474569C>G, XM_005270576.5:c.128C>G, XM_005270576.4:c.128C>G, XM_005270576.3:c.128C>G, XM_005270576.2:c.128C>G, XM_005270576.1:c.128C>G, XM_005270575.5:c.953C>G, XM_005270575.4:c.953C>G, XM_005270575.3:c.953C>G, XM_005270575.2:c.953C>G, XM_005270575.1:c.953C>G, XM_011540879.4:c.908C>G, XM_011540879.3:c.908C>G, XM_011540879.2:c.908C>G, XM_011540879.1:c.908C>G, NM_024852.4:c.953C>G, NM_024852.3:c.953C>G, XM_017000524.3:c.251C>G, XM_017000524.2:c.251C>G, XM_017000524.1:c.251C>G, XM_017000523.3:c.953C>G, XM_017000523.2:c.953C>G, XM_017000523.1:c.953C>G, NM_177422.3:c.251C>G, NM_177422.2:c.251C>G, XM_017000526.3:c.251C>G, XM_017000526.2:c.251C>G, XM_017000526.1:c.251C>G, XM_047448134.1:c.251C>G, XP_005270633.1:p.Thr43Ser, XP_005270632.1:p.Thr318Ser, XP_011539181.1:p.Thr303Ser, NP_079128.2:p.Thr318Ser, XP_016856013.1:p.Thr84Ser, XP_016856012.1:p.Thr318Ser, NP_803171.1:p.Thr84Ser, XP_016856015.1:p.Thr84Ser, XP_047304090.1:p.Thr84Ser

Select item 14776909606.

rs1477690960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:36027174 (GRCh38)
1:36492775 (GRCh37)
Canonical SPDI:: NC_000001.11:36027173:G:T
Gene:: AGO3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.36027174G>T, NC_000001.10:g.36492775G>T, XM_005270576.5:c.642G>T, XM_005270576.4:c.642G>T, XM_005270576.3:c.642G>T, XM_005270576.2:c.642G>T, XM_005270576.1:c.642G>T, XM_005270575.5:c.1467G>T, XM_005270575.4:c.1467G>T, XM_005270575.3:c.1467G>T, XM_005270575.2:c.1467G>T, XM_005270575.1:c.1467G>T, XM_011540879.4:c.1422G>T, XM_011540879.3:c.1422G>T, XM_011540879.2:c.1422G>T, XM_011540879.1:c.1422G>T, NM_024852.4:c.1467G>T, NM_024852.3:c.1467G>T, XM_017000524.3:c.765G>T, XM_017000524.2:c.765G>T, XM_017000524.1:c.765G>T, XM_017000523.3:c.1467G>T, XM_017000523.2:c.1467G>T, XM_017000523.1:c.1467G>T, NM_177422.3:c.765G>T, NM_177422.2:c.765G>T, XM_017000526.3:c.765G>T, XM_017000526.2:c.765G>T, XM_017000526.1:c.765G>T, XM_047448134.1:c.765G>T, XP_005270633.1:p.Gln214His, XP_005270632.1:p.Gln489His, XP_011539181.1:p.Gln474His, NP_079128.2:p.Gln489His, XP_016856013.1:p.Gln255His, XP_016856012.1:p.Gln489His, NP_803171.1:p.Gln255His, XP_016856015.1:p.Gln255His, XP_047304090.1:p.Gln255His

Select item 14771942607.

rs1477194260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:36009519 (GRCh38)
1:36475120 (GRCh37)
Canonical SPDI:: NC_000001.11:36009518:A:G
Gene:: AGO3 (Varview), LOC105378647 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.36009519A>G, NC_000001.10:g.36475120A>G, XM_005270576.5:c.249A>G, XM_005270576.4:c.249A>G, XM_005270576.3:c.249A>G, XM_005270576.2:c.249A>G, XM_005270576.1:c.249A>G, XM_005270575.5:c.1074A>G, XM_005270575.4:c.1074A>G, XM_005270575.3:c.1074A>G, XM_005270575.2:c.1074A>G, XM_005270575.1:c.1074A>G, XM_011540879.4:c.1029A>G, XM_011540879.3:c.1029A>G, XM_011540879.2:c.1029A>G, XM_011540879.1:c.1029A>G, NM_024852.4:c.1074A>G, NM_024852.3:c.1074A>G, XM_017000524.3:c.372A>G, XM_017000524.2:c.372A>G, XM_017000524.1:c.372A>G, XM_017000523.3:c.1074A>G, XM_017000523.2:c.1074A>G, XM_017000523.1:c.1074A>G, NM_177422.3:c.372A>G, NM_177422.2:c.372A>G, XM_017000526.3:c.372A>G, XM_017000526.2:c.372A>G, XM_017000526.1:c.372A>G, XR_001737972.2:n.3166T>C, XM_047448134.1:c.372A>G

Select item 14761908838.

rs1476190883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:36040341 (GRCh38)
1:36505942 (GRCh37)
Canonical SPDI:: NC_000001.11:36040340:C:G
Gene:: AGO3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36040341C>G, NC_000001.10:g.36505942C>G, XM_005270576.5:c.1247C>G, XM_005270576.4:c.1247C>G, XM_005270576.3:c.1247C>G, XM_005270576.2:c.1247C>G, XM_005270576.1:c.1247C>G, XM_005270575.5:c.2072C>G, XM_005270575.4:c.2072C>G, XM_005270575.3:c.2072C>G, XM_005270575.2:c.2072C>G, XM_005270575.1:c.2072C>G, XM_011540879.4:c.2027C>G, XM_011540879.3:c.2027C>G, XM_011540879.2:c.2027C>G, XM_011540879.1:c.2027C>G, NM_024852.4:c.2072C>G, NM_024852.3:c.2072C>G, XM_017000524.3:c.1370C>G, XM_017000524.2:c.1370C>G, XM_017000524.1:c.1370C>G, XM_017000523.3:c.2072C>G, XM_017000523.2:c.2072C>G, XM_017000523.1:c.2072C>G, NM_177422.3:c.1370C>G, NM_177422.2:c.1370C>G, XM_017000526.3:c.1370C>G, XM_017000526.2:c.1370C>G, XM_017000526.1:c.1370C>G, XM_047448134.1:c.1370C>G, XP_005270633.1:p.Ala416Gly, XP_005270632.1:p.Ala691Gly, XP_011539181.1:p.Ala676Gly, NP_079128.2:p.Ala691Gly, XP_016856013.1:p.Ala457Gly, XP_016856012.1:p.Ala691Gly, NP_803171.1:p.Ala457Gly, XP_016856015.1:p.Ala457Gly, XP_047304090.1:p.Ala457Gly

Select item 14751985699.

rs1475198569 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:36039860 (GRCh38)
1:36505461 (GRCh37)
Canonical SPDI:: NC_000001.11:36039859:A:G
Gene:: AGO3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.36039860A>G, NC_000001.10:g.36505461A>G, XM_005270576.5:c.1088A>G, XM_005270576.4:c.1088A>G, XM_005270576.3:c.1088A>G, XM_005270576.2:c.1088A>G, XM_005270576.1:c.1088A>G, XM_005270575.5:c.1913A>G, XM_005270575.4:c.1913A>G, XM_005270575.3:c.1913A>G, XM_005270575.2:c.1913A>G, XM_005270575.1:c.1913A>G, XM_011540879.4:c.1868A>G, XM_011540879.3:c.1868A>G, XM_011540879.2:c.1868A>G, XM_011540879.1:c.1868A>G, NM_024852.4:c.1913A>G, NM_024852.3:c.1913A>G, XM_017000524.3:c.1211A>G, XM_017000524.2:c.1211A>G, XM_017000524.1:c.1211A>G, XM_017000523.3:c.1913A>G, XM_017000523.2:c.1913A>G, XM_017000523.1:c.1913A>G, NM_177422.3:c.1211A>G, NM_177422.2:c.1211A>G, XM_017000526.3:c.1211A>G, XM_017000526.2:c.1211A>G, XM_017000526.1:c.1211A>G, XM_047448134.1:c.1211A>G, XP_005270633.1:p.Glu363Gly, XP_005270632.1:p.Glu638Gly, XP_011539181.1:p.Glu623Gly, NP_079128.2:p.Glu638Gly, XP_016856013.1:p.Glu404Gly, XP_016856012.1:p.Glu638Gly, NP_803171.1:p.Glu404Gly, XP_016856015.1:p.Glu404Gly, XP_047304090.1:p.Glu404Gly

Select item 147500779010.

rs1475007790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:36036229 (GRCh38)
1:36501830 (GRCh37)
Canonical SPDI:: NC_000001.11:36036228:C:G
Gene:: AGO3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.36036229C>G, NC_000001.10:g.36501830C>G, XM_005270576.5:c.979C>G, XM_005270576.4:c.979C>G, XM_005270576.3:c.979C>G, XM_005270576.2:c.979C>G, XM_005270576.1:c.979C>G, XM_005270575.5:c.1804C>G, XM_005270575.4:c.1804C>G, XM_005270575.3:c.1804C>G, XM_005270575.2:c.1804C>G, XM_005270575.1:c.1804C>G, XM_011540879.4:c.1759C>G, XM_011540879.3:c.1759C>G, XM_011540879.2:c.1759C>G, XM_011540879.1:c.1759C>G, NM_024852.4:c.1804C>G, NM_024852.3:c.1804C>G, XM_017000524.3:c.1102C>G, XM_017000524.2:c.1102C>G, XM_017000524.1:c.1102C>G, XM_017000523.3:c.1804C>G, XM_017000523.2:c.1804C>G, XM_017000523.1:c.1804C>G, NM_177422.3:c.1102C>G, NM_177422.2:c.1102C>G, XM_017000526.3:c.1102C>G, XM_017000526.2:c.1102C>G, XM_017000526.1:c.1102C>G, XM_047448134.1:c.1102C>G, XP_005270633.1:p.Pro327Ala, XP_005270632.1:p.Pro602Ala, XP_011539181.1:p.Pro587Ala, NP_079128.2:p.Pro602Ala, XP_016856013.1:p.Pro368Ala, XP_016856012.1:p.Pro602Ala, NP_803171.1:p.Pro368Ala, XP_016856015.1:p.Pro368Ala, XP_047304090.1:p.Pro368Ala

Select item 147418786711.

rs1474187867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:36008758 (GRCh38)
1:36474359 (GRCh37)
Canonical SPDI:: NC_000001.11:36008757:A:C
Gene:: AGO3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36008758A>C, NC_000001.10:g.36474359A>C, XM_005270576.5:c.37A>C, XM_005270576.4:c.37A>C, XM_005270576.3:c.37A>C, XM_005270576.2:c.37A>C, XM_005270576.1:c.37A>C, XM_005270575.5:c.862A>C, XM_005270575.4:c.862A>C, XM_005270575.3:c.862A>C, XM_005270575.2:c.862A>C, XM_005270575.1:c.862A>C, XM_011540879.4:c.817A>C, XM_011540879.3:c.817A>C, XM_011540879.2:c.817A>C, XM_011540879.1:c.817A>C, NM_024852.4:c.862A>C, NM_024852.3:c.862A>C, XM_017000524.3:c.160A>C, XM_017000524.2:c.160A>C, XM_017000524.1:c.160A>C, XM_017000523.3:c.862A>C, XM_017000523.2:c.862A>C, XM_017000523.1:c.862A>C, NM_177422.3:c.160A>C, NM_177422.2:c.160A>C, XM_017000526.3:c.160A>C, XM_017000526.2:c.160A>C, XM_017000526.1:c.160A>C, XM_047448134.1:c.160A>C

Select item 147049034012.

rs1470490340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:36027162 (GRCh38)
1:36492763 (GRCh37)
Canonical SPDI:: NC_000001.11:36027161:C:T
Gene:: AGO3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36027162C>T, NC_000001.10:g.36492763C>T, XM_005270576.5:c.630C>T, XM_005270576.4:c.630C>T, XM_005270576.3:c.630C>T, XM_005270576.2:c.630C>T, XM_005270576.1:c.630C>T, XM_005270575.5:c.1455C>T, XM_005270575.4:c.1455C>T, XM_005270575.3:c.1455C>T, XM_005270575.2:c.1455C>T, XM_005270575.1:c.1455C>T, XM_011540879.4:c.1410C>T, XM_011540879.3:c.1410C>T, XM_011540879.2:c.1410C>T, XM_011540879.1:c.1410C>T, NM_024852.4:c.1455C>T, NM_024852.3:c.1455C>T, XM_017000524.3:c.753C>T, XM_017000524.2:c.753C>T, XM_017000524.1:c.753C>T, XM_017000523.3:c.1455C>T, XM_017000523.2:c.1455C>T, XM_017000523.1:c.1455C>T, NM_177422.3:c.753C>T, NM_177422.2:c.753C>T, XM_017000526.3:c.753C>T, XM_017000526.2:c.753C>T, XM_017000526.1:c.753C>T, XM_047448134.1:c.753C>T

Select item 147004010013.

rs1470040100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:36034304 (GRCh38)
1:36499905 (GRCh37)
Canonical SPDI:: NC_000001.11:36034303:G:T
Gene:: AGO3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.36034304G>T, NC_000001.10:g.36499905G>T, NG_082020.1:g.112G>T, XM_005270576.5:c.897G>T, XM_005270576.4:c.897G>T, XM_005270576.3:c.897G>T, XM_005270576.2:c.897G>T, XM_005270576.1:c.897G>T, XM_005270575.5:c.1722G>T, XM_005270575.4:c.1722G>T, XM_005270575.3:c.1722G>T, XM_005270575.2:c.1722G>T, XM_005270575.1:c.1722G>T, XM_011540879.4:c.1677G>T, XM_011540879.3:c.1677G>T, XM_011540879.2:c.1677G>T, XM_011540879.1:c.1677G>T, NM_024852.4:c.1722G>T, NM_024852.3:c.1722G>T, XM_017000524.3:c.1020G>T, XM_017000524.2:c.1020G>T, XM_017000524.1:c.1020G>T, XM_017000523.3:c.1722G>T, XM_017000523.2:c.1722G>T, XM_017000523.1:c.1722G>T, NM_177422.3:c.1020G>T, NM_177422.2:c.1020G>T, XM_017000526.3:c.1020G>T, XM_017000526.2:c.1020G>T, XM_017000526.1:c.1020G>T, XM_047448134.1:c.1020G>T

Select item 147000274614.

rs1470002746 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCAGGACT>- [Show Flanks]
Chromosome:: 1:36039867 (GRCh38)
1:36505468 (GRCh37)
Canonical SPDI:: NC_000001.11:36039865:TCCAGGACT:T
Gene:: AGO3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.36039867_36039874del, NC_000001.10:g.36505468_36505475del, XM_005270576.5:c.1095_1102del, XM_005270576.4:c.1095_1102del, XM_005270576.3:c.1095_1102del, XM_005270576.2:c.1095_1102del, XM_005270576.1:c.1095_1102del, XM_005270575.5:c.1920_1927del, XM_005270575.4:c.1920_1927del, XM_005270575.3:c.1920_1927del, XM_005270575.2:c.1920_1927del, XM_005270575.1:c.1920_1927del, XM_011540879.4:c.1875_1882del, XM_011540879.3:c.1875_1882del, XM_011540879.2:c.1875_1882del, XM_011540879.1:c.1875_1882del, NM_024852.4:c.1920_1927del, NM_024852.3:c.1920_1927del, XM_017000524.3:c.1218_1225del, XM_017000524.2:c.1218_1225del, XM_017000524.1:c.1218_1225del, XM_017000523.3:c.1920_1927del, XM_017000523.2:c.1920_1927del, XM_017000523.1:c.1920_1927del, NM_177422.3:c.1218_1225del, NM_177422.2:c.1218_1225del, XM_017000526.3:c.1218_1225del, XM_017000526.2:c.1218_1225del, XM_017000526.1:c.1218_1225del, XM_047448134.1:c.1218_1225del, XP_005270633.1:p.Gln366fs, XP_005270632.1:p.Gln641fs, XP_011539181.1:p.Gln626fs, NP_079128.2:p.Gln641fs, XP_016856013.1:p.Gln407fs, XP_016856012.1:p.Gln641fs, NP_803171.1:p.Gln407fs, XP_016856015.1:p.Gln407fs, XP_047304090.1:p.Gln407fs

Select item 146681008915.

rs1466810089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:36004420 (GRCh38)
1:36470021 (GRCh37)
Canonical SPDI:: NC_000001.11:36004419:G:A
Gene:: AGO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
HGVS:: NC_000001.11:g.36004420G>A, NC_000001.10:g.36470021G>A, XM_005270575.5:c.738G>A, XM_005270575.4:c.738G>A, XM_005270575.3:c.738G>A, XM_005270575.2:c.738G>A, XM_005270575.1:c.738G>A, XM_011540879.4:c.693G>A, XM_011540879.3:c.693G>A, XM_011540879.2:c.693G>A, XM_011540879.1:c.693G>A, NM_024852.4:c.738G>A, NM_024852.3:c.738G>A, XM_017000524.3:c.36G>A, XM_017000524.2:c.36G>A, XM_017000524.1:c.36G>A, XM_017000523.3:c.738G>A, XM_017000523.2:c.738G>A, XM_017000523.1:c.738G>A, NM_177422.3:c.36G>A, NM_177422.2:c.36G>A, XM_017000526.3:c.36G>A, XM_017000526.2:c.36G>A, XM_017000526.1:c.36G>A, XM_047448134.1:c.36G>A

Select item 146615816216.

rs1466158162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:36013687 (GRCh38)
1:36479288 (GRCh37)
Canonical SPDI:: NC_000001.11:36013686:C:T
Gene:: AGO3 (Varview), LOC105378647 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.36013687C>T, NC_000001.10:g.36479288C>T, XM_005270576.5:c.382C>T, XM_005270576.4:c.382C>T, XM_005270576.3:c.382C>T, XM_005270576.2:c.382C>T, XM_005270576.1:c.382C>T, XM_005270575.5:c.1207C>T, XM_005270575.4:c.1207C>T, XM_005270575.3:c.1207C>T, XM_005270575.2:c.1207C>T, XM_005270575.1:c.1207C>T, XM_011540879.4:c.1162C>T, XM_011540879.3:c.1162C>T, XM_011540879.2:c.1162C>T, XM_011540879.1:c.1162C>T, NM_024852.4:c.1207C>T, NM_024852.3:c.1207C>T, XM_017000524.3:c.505C>T, XM_017000524.2:c.505C>T, XM_017000524.1:c.505C>T, XM_017000523.3:c.1207C>T, XM_017000523.2:c.1207C>T, XM_017000523.1:c.1207C>T, NM_177422.3:c.505C>T, NM_177422.2:c.505C>T, XM_017000526.3:c.505C>T, XM_017000526.2:c.505C>T, XM_017000526.1:c.505C>T, XM_047448134.1:c.505C>T, XP_005270633.1:p.Arg128Trp, XP_005270632.1:p.Arg403Trp, XP_011539181.1:p.Arg388Trp, NP_079128.2:p.Arg403Trp, XP_016856013.1:p.Arg169Trp, XP_016856012.1:p.Arg403Trp, NP_803171.1:p.Arg169Trp, XP_016856015.1:p.Arg169Trp, XP_047304090.1:p.Arg169Trp

Select item 146481486317.

rs1464814863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:36055038 (GRCh38)
1:36520639 (GRCh37)
Canonical SPDI:: NC_000001.11:36055037:C:T
Gene:: AGO3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.36055038C>T, NC_000001.10:g.36520639C>T, XM_005270576.5:c.1542C>T, XM_005270576.4:c.1542C>T, XM_005270576.3:c.1542C>T, XM_005270576.2:c.1542C>T, XM_005270576.1:c.1542C>T, XM_005270575.5:c.2367C>T, XM_005270575.4:c.2367C>T, XM_005270575.3:c.2367C>T, XM_005270575.2:c.2367C>T, XM_005270575.1:c.2367C>T, XM_011540879.4:c.2322C>T, XM_011540879.3:c.2322C>T, XM_011540879.2:c.2322C>T, XM_011540879.1:c.2322C>T, NM_024852.4:c.2367C>T, NM_024852.3:c.2367C>T, XM_017000524.3:c.1665C>T, XM_017000524.2:c.1665C>T, XM_017000524.1:c.1665C>T, XM_017000523.3:c.2367C>T, XM_017000523.2:c.2367C>T, XM_017000523.1:c.2367C>T, NM_177422.3:c.1665C>T, NM_177422.2:c.1665C>T, XM_017000526.3:c.1665C>T, XM_017000526.2:c.1665C>T, XM_017000526.1:c.1665C>T, XM_047448134.1:c.1665C>T

Select item 146319951918.

rs1463199519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:36039957 (GRCh38)
1:36505558 (GRCh37)
Canonical SPDI:: NC_000001.11:36039956:T:C
Gene:: AGO3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.36039957T>C, NC_000001.10:g.36505558T>C, XM_005270576.5:c.1185T>C, XM_005270576.4:c.1185T>C, XM_005270576.3:c.1185T>C, XM_005270576.2:c.1185T>C, XM_005270576.1:c.1185T>C, XM_005270575.5:c.2010T>C, XM_005270575.4:c.2010T>C, XM_005270575.3:c.2010T>C, XM_005270575.2:c.2010T>C, XM_005270575.1:c.2010T>C, XM_011540879.4:c.1965T>C, XM_011540879.3:c.1965T>C, XM_011540879.2:c.1965T>C, XM_011540879.1:c.1965T>C, NM_024852.4:c.2010T>C, NM_024852.3:c.2010T>C, XM_017000524.3:c.1308T>C, XM_017000524.2:c.1308T>C, XM_017000524.1:c.1308T>C, XM_017000523.3:c.2010T>C, XM_017000523.2:c.2010T>C, XM_017000523.1:c.2010T>C, NM_177422.3:c.1308T>C, NM_177422.2:c.1308T>C, XM_017000526.3:c.1308T>C, XM_017000526.2:c.1308T>C, XM_017000526.1:c.1308T>C, XM_047448134.1:c.1308T>C

Select item 146207213419.

rs1462072134 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:36027224 (GRCh38)
1:36492825 (GRCh37)
Canonical SPDI:: NC_000001.11:36027223:T:G
Gene:: AGO3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.36027224T>G, NC_000001.10:g.36492825T>G, XM_005270576.5:c.692T>G, XM_005270576.4:c.692T>G, XM_005270576.3:c.692T>G, XM_005270576.2:c.692T>G, XM_005270576.1:c.692T>G, XM_005270575.5:c.1517T>G, XM_005270575.4:c.1517T>G, XM_005270575.3:c.1517T>G, XM_005270575.2:c.1517T>G, XM_005270575.1:c.1517T>G, XM_011540879.4:c.1472T>G, XM_011540879.3:c.1472T>G, XM_011540879.2:c.1472T>G, XM_011540879.1:c.1472T>G, NM_024852.4:c.1517T>G, NM_024852.3:c.1517T>G, XM_017000524.3:c.815T>G, XM_017000524.2:c.815T>G, XM_017000524.1:c.815T>G, XM_017000523.3:c.1517T>G, XM_017000523.2:c.1517T>G, XM_017000523.1:c.1517T>G, NM_177422.3:c.815T>G, NM_177422.2:c.815T>G, XM_017000526.3:c.815T>G, XM_017000526.2:c.815T>G, XM_017000526.1:c.815T>G, XM_047448134.1:c.815T>G, XP_005270633.1:p.Phe231Cys, XP_005270632.1:p.Phe506Cys, XP_011539181.1:p.Phe491Cys, NP_079128.2:p.Phe506Cys, XP_016856013.1:p.Phe272Cys, XP_016856012.1:p.Phe506Cys, NP_803171.1:p.Phe272Cys, XP_016856015.1:p.Phe272Cys, XP_047304090.1:p.Phe272Cys

Select item 146178040220.

rs1461780402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:36034250 (GRCh38)
1:36499851 (GRCh37)
Canonical SPDI:: NC_000001.11:36034249:A:G,NC_000001.11:36034249:A:T
Gene:: AGO3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.36034250A>G, NC_000001.11:g.36034250A>T, NC_000001.10:g.36499851A>G, NC_000001.10:g.36499851A>T, NG_082020.1:g.58A>G, NG_082020.1:g.58A>T, XM_005270576.5:c.843A>G, XM_005270576.5:c.843A>T, XM_005270576.4:c.843A>G, XM_005270576.4:c.843A>T, XM_005270576.3:c.843A>G, XM_005270576.3:c.843A>T, XM_005270576.2:c.843A>G, XM_005270576.2:c.843A>T, XM_005270576.1:c.843A>G, XM_005270576.1:c.843A>T, XM_005270575.5:c.1668A>G, XM_005270575.5:c.1668A>T, XM_005270575.4:c.1668A>G, XM_005270575.4:c.1668A>T, XM_005270575.3:c.1668A>G, XM_005270575.3:c.1668A>T, XM_005270575.2:c.1668A>G, XM_005270575.2:c.1668A>T, XM_005270575.1:c.1668A>G, XM_005270575.1:c.1668A>T, XM_011540879.4:c.1623A>G, XM_011540879.4:c.1623A>T, XM_011540879.3:c.1623A>G, XM_011540879.3:c.1623A>T, XM_011540879.2:c.1623A>G, XM_011540879.2:c.1623A>T, XM_011540879.1:c.1623A>G, XM_011540879.1:c.1623A>T, NM_024852.4:c.1668A>G, NM_024852.4:c.1668A>T, NM_024852.3:c.1668A>G, NM_024852.3:c.1668A>T, XM_017000524.3:c.966A>G, XM_017000524.3:c.966A>T, XM_017000524.2:c.966A>G, XM_017000524.2:c.966A>T, XM_017000524.1:c.966A>G, XM_017000524.1:c.966A>T, XM_017000523.3:c.1668A>G, XM_017000523.3:c.1668A>T, XM_017000523.2:c.1668A>G, XM_017000523.2:c.1668A>T, XM_017000523.1:c.1668A>G, XM_017000523.1:c.1668A>T, NM_177422.3:c.966A>G, NM_177422.3:c.966A>T, NM_177422.2:c.966A>G, NM_177422.2:c.966A>T, XM_017000526.3:c.966A>G, XM_017000526.3:c.966A>T, XM_017000526.2:c.966A>G, XM_017000526.2:c.966A>T, XM_017000526.1:c.966A>G, XM_017000526.1:c.966A>T, XM_047448134.1:c.966A>G, XM_047448134.1:c.966A>T

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