SNP Links for Protein (Select 114431236) - SNP

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Links from Protein

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Select item 14909398501.

rs1490939850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:106927234 (GRCh38)
9:109689515 (GRCh37)
Canonical SPDI:: NC_000009.12:106927233:G:A,NC_000009.12:106927233:G:C
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00011/1 (ALFA)
C=0.00025/4 (TOMMO)
A=0.00055/1 (Korea1K)
HGVS:: NC_000009.12:g.106927234G>A, NC_000009.12:g.106927234G>C, NC_000009.11:g.109689515G>A, NC_000009.11:g.109689515G>C, NG_052913.1:g.69138G>A, NG_052913.1:g.69138G>C, NM_021224.6:c.3322G>A, NM_021224.6:c.3322G>C, NM_021224.5:c.3322G>A, NM_021224.5:c.3322G>C, NM_021224.4:c.3322G>A, NM_021224.4:c.3322G>C, XM_006717215.5:c.3322G>A, XM_006717215.5:c.3322G>C, XM_006717215.4:c.3322G>A, XM_006717215.4:c.3322G>C, XM_006717215.3:c.3322G>A, XM_006717215.3:c.3322G>C, XM_006717215.2:c.3322G>A, XM_006717215.2:c.3322G>C, XM_006717215.1:c.3322G>A, XM_006717215.1:c.3322G>C, XM_006717216.5:c.3322G>A, XM_006717216.5:c.3322G>C, XM_006717216.4:c.3322G>A, XM_006717216.4:c.3322G>C, XM_006717216.3:c.3322G>A, XM_006717216.3:c.3322G>C, XM_006717216.2:c.3322G>A, XM_006717216.2:c.3322G>C, XM_006717216.1:c.3322G>A, XM_006717216.1:c.3322G>C, XM_006717211.5:c.3322G>A, XM_006717211.5:c.3322G>C, XM_006717211.4:c.3322G>A, XM_006717211.4:c.3322G>C, XM_006717211.3:c.3322G>A, XM_006717211.3:c.3322G>C, XM_006717211.2:c.3322G>A, XM_006717211.2:c.3322G>C, XM_006717211.1:c.3322G>A, XM_006717211.1:c.3322G>C, XM_006717209.5:c.3322G>A, XM_006717209.5:c.3322G>C, XM_006717209.4:c.3322G>A, XM_006717209.4:c.3322G>C, XM_006717209.3:c.3322G>A, XM_006717209.3:c.3322G>C, XM_006717209.2:c.3322G>A, XM_006717209.2:c.3322G>C, XM_006717209.1:c.3322G>A, XM_006717209.1:c.3322G>C, XM_006717212.5:c.3322G>A, XM_006717212.5:c.3322G>C, XM_006717212.4:c.3322G>A, XM_006717212.4:c.3322G>C, XM_006717212.3:c.3322G>A, XM_006717212.3:c.3322G>C, XM_006717212.2:c.3322G>A, XM_006717212.2:c.3322G>C, XM_006717212.1:c.3322G>A, XM_006717212.1:c.3322G>C, XM_017014997.3:c.3322G>A, XM_017014997.3:c.3322G>C, XM_017014997.2:c.3322G>A, XM_017014997.2:c.3322G>C, XM_017014997.1:c.3322G>A, XM_017014997.1:c.3322G>C, XM_017014996.3:c.3322G>A, XM_017014996.3:c.3322G>C, XM_017014996.2:c.3322G>A, XM_017014996.2:c.3322G>C, XM_017014996.1:c.3322G>A, XM_017014996.1:c.3322G>C, XM_047423671.1:c.3322G>A, XM_047423671.1:c.3322G>C, XM_047423678.1:c.3322G>A, XM_047423678.1:c.3322G>C, XM_047423666.1:c.3322G>A, XM_047423666.1:c.3322G>C, XM_047423674.1:c.3322G>A, XM_047423674.1:c.3322G>C, XM_047423661.1:c.3322G>A, XM_047423661.1:c.3322G>C, XM_047423667.1:c.3322G>A, XM_047423667.1:c.3322G>C, XM_047423663.1:c.3322G>A, XM_047423663.1:c.3322G>C, XM_024447629.1:c.3322G>A, XM_024447629.1:c.3322G>C, XM_047423664.1:c.3322G>A, XM_047423664.1:c.3322G>C, XM_047423675.1:c.3322G>A, XM_047423675.1:c.3322G>C, XM_047423662.1:c.3322G>A, XM_047423662.1:c.3322G>C, XM_047423677.1:c.3322G>A, XM_047423677.1:c.3322G>C, XM_047423670.1:c.3322G>A, XM_047423670.1:c.3322G>C, XM_047423672.1:c.3322G>A, XM_047423672.1:c.3322G>C, XM_047423665.1:c.3322G>A, XM_047423665.1:c.3322G>C, XM_047423673.1:c.3322G>A, XM_047423673.1:c.3322G>C, XM_047423668.1:c.3322G>A, XM_047423668.1:c.3322G>C, XM_047423669.1:c.3322G>A, XM_047423669.1:c.3322G>C, XM_047423676.1:c.3322G>A, XM_047423676.1:c.3322G>C, NP_067047.4:p.Asp1108Asn, NP_067047.4:p.Asp1108His, XP_006717278.1:p.Asp1108Asn, XP_006717278.1:p.Asp1108His, XP_006717279.1:p.Asp1108Asn, XP_006717279.1:p.Asp1108His, XP_006717274.1:p.Asp1108Asn, XP_006717274.1:p.Asp1108His, XP_006717272.1:p.Asp1108Asn, XP_006717272.1:p.Asp1108His, XP_006717275.1:p.Asp1108Asn, XP_006717275.1:p.Asp1108His, XP_016870486.1:p.Asp1108Asn, XP_016870486.1:p.Asp1108His, XP_016870485.1:p.Asp1108Asn, XP_016870485.1:p.Asp1108His, XP_047279627.1:p.Asp1108Asn, XP_047279627.1:p.Asp1108His, XP_047279634.1:p.Asp1108Asn, XP_047279634.1:p.Asp1108His, XP_047279622.1:p.Asp1108Asn, XP_047279622.1:p.Asp1108His, XP_047279630.1:p.Asp1108Asn, XP_047279630.1:p.Asp1108His, XP_047279617.1:p.Asp1108Asn, XP_047279617.1:p.Asp1108His, XP_047279623.1:p.Asp1108Asn, XP_047279623.1:p.Asp1108His, XP_047279619.1:p.Asp1108Asn, XP_047279619.1:p.Asp1108His, XP_024303397.1:p.Asp1108Asn, XP_024303397.1:p.Asp1108His, XP_047279620.1:p.Asp1108Asn, XP_047279620.1:p.Asp1108His, XP_047279631.1:p.Asp1108Asn, XP_047279631.1:p.Asp1108His, XP_047279618.1:p.Asp1108Asn, XP_047279618.1:p.Asp1108His, XP_047279633.1:p.Asp1108Asn, XP_047279633.1:p.Asp1108His, XP_047279626.1:p.Asp1108Asn, XP_047279626.1:p.Asp1108His, XP_047279628.1:p.Asp1108Asn, XP_047279628.1:p.Asp1108His, XP_047279621.1:p.Asp1108Asn, XP_047279621.1:p.Asp1108His, XP_047279629.1:p.Asp1108Asn, XP_047279629.1:p.Asp1108His, XP_047279624.1:p.Asp1108Asn, XP_047279624.1:p.Asp1108His, XP_047279625.1:p.Asp1108Asn, XP_047279625.1:p.Asp1108His, XP_047279632.1:p.Asp1108Asn, XP_047279632.1:p.Asp1108His

Select item 14901209632.

rs1490120963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:106927561 (GRCh38)
9:109689842 (GRCh37)
Canonical SPDI:: NC_000009.12:106927560:C:G,NC_000009.12:106927560:C:T
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant,missense_variant
Clinical significance:: pathogenic
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.106927561C>G, NC_000009.12:g.106927561C>T, NC_000009.11:g.109689842C>G, NC_000009.11:g.109689842C>T, NG_052913.1:g.69465C>G, NG_052913.1:g.69465C>T, NM_021224.6:c.3649C>G, NM_021224.6:c.3649C>T, NM_021224.5:c.3649C>G, NM_021224.5:c.3649C>T, NM_021224.4:c.3649C>G, NM_021224.4:c.3649C>T, XM_006717215.5:c.3649C>G, XM_006717215.5:c.3649C>T, XM_006717215.4:c.3649C>G, XM_006717215.4:c.3649C>T, XM_006717215.3:c.3649C>G, XM_006717215.3:c.3649C>T, XM_006717215.2:c.3649C>G, XM_006717215.2:c.3649C>T, XM_006717215.1:c.3649C>G, XM_006717215.1:c.3649C>T, XM_006717216.5:c.3649C>G, XM_006717216.5:c.3649C>T, XM_006717216.4:c.3649C>G, XM_006717216.4:c.3649C>T, XM_006717216.3:c.3649C>G, XM_006717216.3:c.3649C>T, XM_006717216.2:c.3649C>G, XM_006717216.2:c.3649C>T, XM_006717216.1:c.3649C>G, XM_006717216.1:c.3649C>T, XM_006717211.5:c.3649C>G, XM_006717211.5:c.3649C>T, XM_006717211.4:c.3649C>G, XM_006717211.4:c.3649C>T, XM_006717211.3:c.3649C>G, XM_006717211.3:c.3649C>T, XM_006717211.2:c.3649C>G, XM_006717211.2:c.3649C>T, XM_006717211.1:c.3649C>G, XM_006717211.1:c.3649C>T, XM_006717209.5:c.3649C>G, XM_006717209.5:c.3649C>T, XM_006717209.4:c.3649C>G, XM_006717209.4:c.3649C>T, XM_006717209.3:c.3649C>G, XM_006717209.3:c.3649C>T, XM_006717209.2:c.3649C>G, XM_006717209.2:c.3649C>T, XM_006717209.1:c.3649C>G, XM_006717209.1:c.3649C>T, XM_006717212.5:c.3649C>G, XM_006717212.5:c.3649C>T, XM_006717212.4:c.3649C>G, XM_006717212.4:c.3649C>T, XM_006717212.3:c.3649C>G, XM_006717212.3:c.3649C>T, XM_006717212.2:c.3649C>G, XM_006717212.2:c.3649C>T, XM_006717212.1:c.3649C>G, XM_006717212.1:c.3649C>T, XM_017014997.3:c.3649C>G, XM_017014997.3:c.3649C>T, XM_017014997.2:c.3649C>G, XM_017014997.2:c.3649C>T, XM_017014997.1:c.3649C>G, XM_017014997.1:c.3649C>T, XM_017014996.3:c.3649C>G, XM_017014996.3:c.3649C>T, XM_017014996.2:c.3649C>G, XM_017014996.2:c.3649C>T, XM_017014996.1:c.3649C>G, XM_017014996.1:c.3649C>T, XM_047423671.1:c.3649C>G, XM_047423671.1:c.3649C>T, XM_047423678.1:c.3649C>G, XM_047423678.1:c.3649C>T, XM_047423666.1:c.3649C>G, XM_047423666.1:c.3649C>T, XM_047423674.1:c.3649C>G, XM_047423674.1:c.3649C>T, XM_047423661.1:c.3649C>G, XM_047423661.1:c.3649C>T, XM_047423667.1:c.3649C>G, XM_047423667.1:c.3649C>T, XM_047423663.1:c.3649C>G, XM_047423663.1:c.3649C>T, XM_024447629.1:c.3649C>G, XM_024447629.1:c.3649C>T, XM_047423664.1:c.3649C>G, XM_047423664.1:c.3649C>T, XM_047423675.1:c.3649C>G, XM_047423675.1:c.3649C>T, XM_047423662.1:c.3649C>G, XM_047423662.1:c.3649C>T, XM_047423677.1:c.3649C>G, XM_047423677.1:c.3649C>T, XM_047423670.1:c.3649C>G, XM_047423670.1:c.3649C>T, XM_047423672.1:c.3649C>G, XM_047423672.1:c.3649C>T, XM_047423665.1:c.3649C>G, XM_047423665.1:c.3649C>T, XM_047423673.1:c.3649C>G, XM_047423673.1:c.3649C>T, XM_047423668.1:c.3649C>G, XM_047423668.1:c.3649C>T, XM_047423669.1:c.3649C>G, XM_047423669.1:c.3649C>T, XM_047423676.1:c.3649C>G, XM_047423676.1:c.3649C>T, NP_067047.4:p.Arg1217Gly, NP_067047.4:p.Arg1217Ter, XP_006717278.1:p.Arg1217Gly, XP_006717278.1:p.Arg1217Ter, XP_006717279.1:p.Arg1217Gly, XP_006717279.1:p.Arg1217Ter, XP_006717274.1:p.Arg1217Gly, XP_006717274.1:p.Arg1217Ter, XP_006717272.1:p.Arg1217Gly, XP_006717272.1:p.Arg1217Ter, XP_006717275.1:p.Arg1217Gly, XP_006717275.1:p.Arg1217Ter, XP_016870486.1:p.Arg1217Gly, XP_016870486.1:p.Arg1217Ter, XP_016870485.1:p.Arg1217Gly, XP_016870485.1:p.Arg1217Ter, XP_047279627.1:p.Arg1217Gly, XP_047279627.1:p.Arg1217Ter, XP_047279634.1:p.Arg1217Gly, XP_047279634.1:p.Arg1217Ter, XP_047279622.1:p.Arg1217Gly, XP_047279622.1:p.Arg1217Ter, XP_047279630.1:p.Arg1217Gly, XP_047279630.1:p.Arg1217Ter, XP_047279617.1:p.Arg1217Gly, XP_047279617.1:p.Arg1217Ter, XP_047279623.1:p.Arg1217Gly, XP_047279623.1:p.Arg1217Ter, XP_047279619.1:p.Arg1217Gly, XP_047279619.1:p.Arg1217Ter, XP_024303397.1:p.Arg1217Gly, XP_024303397.1:p.Arg1217Ter, XP_047279620.1:p.Arg1217Gly, XP_047279620.1:p.Arg1217Ter, XP_047279631.1:p.Arg1217Gly, XP_047279631.1:p.Arg1217Ter, XP_047279618.1:p.Arg1217Gly, XP_047279618.1:p.Arg1217Ter, XP_047279633.1:p.Arg1217Gly, XP_047279633.1:p.Arg1217Ter, XP_047279626.1:p.Arg1217Gly, XP_047279626.1:p.Arg1217Ter, XP_047279628.1:p.Arg1217Gly, XP_047279628.1:p.Arg1217Ter, XP_047279621.1:p.Arg1217Gly, XP_047279621.1:p.Arg1217Ter, XP_047279629.1:p.Arg1217Gly, XP_047279629.1:p.Arg1217Ter, XP_047279624.1:p.Arg1217Gly, XP_047279624.1:p.Arg1217Ter, XP_047279625.1:p.Arg1217Gly, XP_047279625.1:p.Arg1217Ter, XP_047279632.1:p.Arg1217Gly, XP_047279632.1:p.Arg1217Ter

Select item 14897809653.

rs1489780965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:106926346 (GRCh38)
9:109688627 (GRCh37)
Canonical SPDI:: NC_000009.12:106926345:G:A
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.106926346G>A, NC_000009.11:g.109688627G>A, NG_052913.1:g.68250G>A, NM_021224.6:c.2434G>A, NM_021224.5:c.2434G>A, NM_021224.4:c.2434G>A, NM_001347997.2:c.2434G>A, NM_001347997.1:c.2434G>A, XM_006717215.5:c.2434G>A, XM_006717215.4:c.2434G>A, XM_006717215.3:c.2434G>A, XM_006717215.2:c.2434G>A, XM_006717215.1:c.2434G>A, XM_006717216.5:c.2434G>A, XM_006717216.4:c.2434G>A, XM_006717216.3:c.2434G>A, XM_006717216.2:c.2434G>A, XM_006717216.1:c.2434G>A, XM_006717211.5:c.2434G>A, XM_006717211.4:c.2434G>A, XM_006717211.3:c.2434G>A, XM_006717211.2:c.2434G>A, XM_006717211.1:c.2434G>A, XM_006717209.5:c.2434G>A, XM_006717209.4:c.2434G>A, XM_006717209.3:c.2434G>A, XM_006717209.2:c.2434G>A, XM_006717209.1:c.2434G>A, XM_006717212.5:c.2434G>A, XM_006717212.4:c.2434G>A, XM_006717212.3:c.2434G>A, XM_006717212.2:c.2434G>A, XM_006717212.1:c.2434G>A, XM_017014997.3:c.2434G>A, XM_017014997.2:c.2434G>A, XM_017014997.1:c.2434G>A, XM_017014996.3:c.2434G>A, XM_017014996.2:c.2434G>A, XM_017014996.1:c.2434G>A, XM_017014998.3:c.2434G>A, XM_017014998.2:c.2434G>A, XM_017014998.1:c.2434G>A, XM_047423671.1:c.2434G>A, XM_047423678.1:c.2434G>A, XM_047423666.1:c.2434G>A, XM_047423674.1:c.2434G>A, XM_047423661.1:c.2434G>A, XM_047423667.1:c.2434G>A, XM_047423663.1:c.2434G>A, XM_024447629.1:c.2434G>A, XM_047423664.1:c.2434G>A, XM_047423675.1:c.2434G>A, XM_047423662.1:c.2434G>A, XM_047423677.1:c.2434G>A, XM_047423670.1:c.2434G>A, XM_047423672.1:c.2434G>A, XM_047423665.1:c.2434G>A, XM_047423673.1:c.2434G>A, XM_047423668.1:c.2434G>A, XM_047423669.1:c.2434G>A, XM_047423676.1:c.2434G>A, XM_047423680.1:c.2434G>A, XM_047423685.1:c.2434G>A, XM_047423679.1:c.2434G>A, XM_047423682.1:c.2434G>A, XM_047423681.1:c.2434G>A, XM_047423683.1:c.2434G>A, XM_047423684.1:c.2434G>A, NP_067047.4:p.Val812Ile, NP_001334926.1:p.Val812Ile, XP_006717278.1:p.Val812Ile, XP_006717279.1:p.Val812Ile, XP_006717274.1:p.Val812Ile, XP_006717272.1:p.Val812Ile, XP_006717275.1:p.Val812Ile, XP_016870486.1:p.Val812Ile, XP_016870485.1:p.Val812Ile, XP_016870487.1:p.Val812Ile, XP_047279627.1:p.Val812Ile, XP_047279634.1:p.Val812Ile, XP_047279622.1:p.Val812Ile, XP_047279630.1:p.Val812Ile, XP_047279617.1:p.Val812Ile, XP_047279623.1:p.Val812Ile, XP_047279619.1:p.Val812Ile, XP_024303397.1:p.Val812Ile, XP_047279620.1:p.Val812Ile, XP_047279631.1:p.Val812Ile, XP_047279618.1:p.Val812Ile, XP_047279633.1:p.Val812Ile, XP_047279626.1:p.Val812Ile, XP_047279628.1:p.Val812Ile, XP_047279621.1:p.Val812Ile, XP_047279629.1:p.Val812Ile, XP_047279624.1:p.Val812Ile, XP_047279625.1:p.Val812Ile, XP_047279632.1:p.Val812Ile, XP_047279636.1:p.Val812Ile, XP_047279641.1:p.Val812Ile, XP_047279635.1:p.Val812Ile, XP_047279638.1:p.Val812Ile, XP_047279637.1:p.Val812Ile, XP_047279639.1:p.Val812Ile, XP_047279640.1:p.Val812Ile

Select item 14886064314.

rs1488606431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:106924340 (GRCh38)
9:109686621 (GRCh37)
Canonical SPDI:: NC_000009.12:106924339:C:G
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.106924340C>G, NC_000009.11:g.109686621C>G, NG_052913.1:g.66244C>G, NM_021224.6:c.428C>G, NM_021224.5:c.428C>G, NM_021224.4:c.428C>G, NM_001347997.2:c.428C>G, NM_001347997.1:c.428C>G, XM_006717215.5:c.428C>G, XM_006717215.4:c.428C>G, XM_006717215.3:c.428C>G, XM_006717215.2:c.428C>G, XM_006717215.1:c.428C>G, XM_006717216.5:c.428C>G, XM_006717216.4:c.428C>G, XM_006717216.3:c.428C>G, XM_006717216.2:c.428C>G, XM_006717216.1:c.428C>G, XM_006717211.5:c.428C>G, XM_006717211.4:c.428C>G, XM_006717211.3:c.428C>G, XM_006717211.2:c.428C>G, XM_006717211.1:c.428C>G, XM_006717209.5:c.428C>G, XM_006717209.4:c.428C>G, XM_006717209.3:c.428C>G, XM_006717209.2:c.428C>G, XM_006717209.1:c.428C>G, XM_006717212.5:c.428C>G, XM_006717212.4:c.428C>G, XM_006717212.3:c.428C>G, XM_006717212.2:c.428C>G, XM_006717212.1:c.428C>G, XM_017014997.3:c.428C>G, XM_017014997.2:c.428C>G, XM_017014997.1:c.428C>G, XM_017014996.3:c.428C>G, XM_017014996.2:c.428C>G, XM_017014996.1:c.428C>G, XM_017014998.3:c.428C>G, XM_017014998.2:c.428C>G, XM_017014998.1:c.428C>G, XM_047423671.1:c.428C>G, XM_047423678.1:c.428C>G, XM_047423666.1:c.428C>G, XM_047423674.1:c.428C>G, XM_047423661.1:c.428C>G, XM_047423667.1:c.428C>G, XM_047423663.1:c.428C>G, XM_024447629.1:c.428C>G, XM_047423664.1:c.428C>G, XM_047423675.1:c.428C>G, XM_047423662.1:c.428C>G, XM_047423677.1:c.428C>G, XM_047423670.1:c.428C>G, XM_047423672.1:c.428C>G, XM_047423665.1:c.428C>G, XM_047423673.1:c.428C>G, XM_047423668.1:c.428C>G, XM_047423669.1:c.428C>G, XM_047423676.1:c.428C>G, XM_047423680.1:c.428C>G, XM_047423685.1:c.428C>G, XM_047423679.1:c.428C>G, XM_047423682.1:c.428C>G, XM_047423681.1:c.428C>G, XM_047423683.1:c.428C>G, XM_047423684.1:c.428C>G, NP_067047.4:p.Pro143Arg, NP_001334926.1:p.Pro143Arg, XP_006717278.1:p.Pro143Arg, XP_006717279.1:p.Pro143Arg, XP_006717274.1:p.Pro143Arg, XP_006717272.1:p.Pro143Arg, XP_006717275.1:p.Pro143Arg, XP_016870486.1:p.Pro143Arg, XP_016870485.1:p.Pro143Arg, XP_016870487.1:p.Pro143Arg, XP_047279627.1:p.Pro143Arg, XP_047279634.1:p.Pro143Arg, XP_047279622.1:p.Pro143Arg, XP_047279630.1:p.Pro143Arg, XP_047279617.1:p.Pro143Arg, XP_047279623.1:p.Pro143Arg, XP_047279619.1:p.Pro143Arg, XP_024303397.1:p.Pro143Arg, XP_047279620.1:p.Pro143Arg, XP_047279631.1:p.Pro143Arg, XP_047279618.1:p.Pro143Arg, XP_047279633.1:p.Pro143Arg, XP_047279626.1:p.Pro143Arg, XP_047279628.1:p.Pro143Arg, XP_047279621.1:p.Pro143Arg, XP_047279629.1:p.Pro143Arg, XP_047279624.1:p.Pro143Arg, XP_047279625.1:p.Pro143Arg, XP_047279632.1:p.Pro143Arg, XP_047279636.1:p.Pro143Arg, XP_047279641.1:p.Pro143Arg, XP_047279635.1:p.Pro143Arg, XP_047279638.1:p.Pro143Arg, XP_047279637.1:p.Pro143Arg, XP_047279639.1:p.Pro143Arg, XP_047279640.1:p.Pro143Arg

Select item 14881340775.

rs1488134077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:106926246 (GRCh38)
9:109688527 (GRCh37)
Canonical SPDI:: NC_000009.12:106926245:C:T
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.106926246C>T, NC_000009.11:g.109688527C>T, NG_052913.1:g.68150C>T, NM_021224.6:c.2334C>T, NM_021224.5:c.2334C>T, NM_021224.4:c.2334C>T, NM_001347997.2:c.2334C>T, NM_001347997.1:c.2334C>T, XM_006717215.5:c.2334C>T, XM_006717215.4:c.2334C>T, XM_006717215.3:c.2334C>T, XM_006717215.2:c.2334C>T, XM_006717215.1:c.2334C>T, XM_006717216.5:c.2334C>T, XM_006717216.4:c.2334C>T, XM_006717216.3:c.2334C>T, XM_006717216.2:c.2334C>T, XM_006717216.1:c.2334C>T, XM_006717211.5:c.2334C>T, XM_006717211.4:c.2334C>T, XM_006717211.3:c.2334C>T, XM_006717211.2:c.2334C>T, XM_006717211.1:c.2334C>T, XM_006717209.5:c.2334C>T, XM_006717209.4:c.2334C>T, XM_006717209.3:c.2334C>T, XM_006717209.2:c.2334C>T, XM_006717209.1:c.2334C>T, XM_006717212.5:c.2334C>T, XM_006717212.4:c.2334C>T, XM_006717212.3:c.2334C>T, XM_006717212.2:c.2334C>T, XM_006717212.1:c.2334C>T, XM_017014997.3:c.2334C>T, XM_017014997.2:c.2334C>T, XM_017014997.1:c.2334C>T, XM_017014996.3:c.2334C>T, XM_017014996.2:c.2334C>T, XM_017014996.1:c.2334C>T, XM_017014998.3:c.2334C>T, XM_017014998.2:c.2334C>T, XM_017014998.1:c.2334C>T, XM_047423671.1:c.2334C>T, XM_047423678.1:c.2334C>T, XM_047423666.1:c.2334C>T, XM_047423674.1:c.2334C>T, XM_047423661.1:c.2334C>T, XM_047423667.1:c.2334C>T, XM_047423663.1:c.2334C>T, XM_024447629.1:c.2334C>T, XM_047423664.1:c.2334C>T, XM_047423675.1:c.2334C>T, XM_047423662.1:c.2334C>T, XM_047423677.1:c.2334C>T, XM_047423670.1:c.2334C>T, XM_047423672.1:c.2334C>T, XM_047423665.1:c.2334C>T, XM_047423673.1:c.2334C>T, XM_047423668.1:c.2334C>T, XM_047423669.1:c.2334C>T, XM_047423676.1:c.2334C>T, XM_047423680.1:c.2334C>T, XM_047423685.1:c.2334C>T, XM_047423679.1:c.2334C>T, XM_047423682.1:c.2334C>T, XM_047423681.1:c.2334C>T, XM_047423683.1:c.2334C>T, XM_047423684.1:c.2334C>T

Select item 14875776046.

rs1487577604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:106925568 (GRCh38)
9:109687849 (GRCh37)
Canonical SPDI:: NC_000009.12:106925567:A:G
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.106925568A>G, NC_000009.11:g.109687849A>G, NG_052913.1:g.67472A>G, NM_021224.6:c.1656A>G, NM_021224.5:c.1656A>G, NM_021224.4:c.1656A>G, NM_001347997.2:c.1656A>G, NM_001347997.1:c.1656A>G, XM_006717215.5:c.1656A>G, XM_006717215.4:c.1656A>G, XM_006717215.3:c.1656A>G, XM_006717215.2:c.1656A>G, XM_006717215.1:c.1656A>G, XM_006717216.5:c.1656A>G, XM_006717216.4:c.1656A>G, XM_006717216.3:c.1656A>G, XM_006717216.2:c.1656A>G, XM_006717216.1:c.1656A>G, XM_006717211.5:c.1656A>G, XM_006717211.4:c.1656A>G, XM_006717211.3:c.1656A>G, XM_006717211.2:c.1656A>G, XM_006717211.1:c.1656A>G, XM_006717209.5:c.1656A>G, XM_006717209.4:c.1656A>G, XM_006717209.3:c.1656A>G, XM_006717209.2:c.1656A>G, XM_006717209.1:c.1656A>G, XM_006717212.5:c.1656A>G, XM_006717212.4:c.1656A>G, XM_006717212.3:c.1656A>G, XM_006717212.2:c.1656A>G, XM_006717212.1:c.1656A>G, XM_017014997.3:c.1656A>G, XM_017014997.2:c.1656A>G, XM_017014997.1:c.1656A>G, XM_017014996.3:c.1656A>G, XM_017014996.2:c.1656A>G, XM_017014996.1:c.1656A>G, XM_017014998.3:c.1656A>G, XM_017014998.2:c.1656A>G, XM_017014998.1:c.1656A>G, XM_047423671.1:c.1656A>G, XM_047423678.1:c.1656A>G, XM_047423666.1:c.1656A>G, XM_047423674.1:c.1656A>G, XM_047423661.1:c.1656A>G, XM_047423667.1:c.1656A>G, XM_047423663.1:c.1656A>G, XM_024447629.1:c.1656A>G, XM_047423664.1:c.1656A>G, XM_047423675.1:c.1656A>G, XM_047423662.1:c.1656A>G, XM_047423677.1:c.1656A>G, XM_047423670.1:c.1656A>G, XM_047423672.1:c.1656A>G, XM_047423665.1:c.1656A>G, XM_047423673.1:c.1656A>G, XM_047423668.1:c.1656A>G, XM_047423669.1:c.1656A>G, XM_047423676.1:c.1656A>G, XM_047423680.1:c.1656A>G, XM_047423685.1:c.1656A>G, XM_047423679.1:c.1656A>G, XM_047423682.1:c.1656A>G, XM_047423681.1:c.1656A>G, XM_047423683.1:c.1656A>G, XM_047423684.1:c.1656A>G

Select item 14870520787.

rs1487052078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:106924602 (GRCh38)
9:109686883 (GRCh37)
Canonical SPDI:: NC_000009.12:106924601:G:A,NC_000009.12:106924601:G:T
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.106924602G>A, NC_000009.12:g.106924602G>T, NC_000009.11:g.109686883G>A, NC_000009.11:g.109686883G>T, NG_052913.1:g.66506G>A, NG_052913.1:g.66506G>T, NM_021224.6:c.690G>A, NM_021224.6:c.690G>T, NM_021224.5:c.690G>A, NM_021224.5:c.690G>T, NM_021224.4:c.690G>A, NM_021224.4:c.690G>T, NM_001347997.2:c.690G>A, NM_001347997.2:c.690G>T, NM_001347997.1:c.690G>A, NM_001347997.1:c.690G>T, XM_006717215.5:c.690G>A, XM_006717215.5:c.690G>T, XM_006717215.4:c.690G>A, XM_006717215.4:c.690G>T, XM_006717215.3:c.690G>A, XM_006717215.3:c.690G>T, XM_006717215.2:c.690G>A, XM_006717215.2:c.690G>T, XM_006717215.1:c.690G>A, XM_006717215.1:c.690G>T, XM_006717216.5:c.690G>A, XM_006717216.5:c.690G>T, XM_006717216.4:c.690G>A, XM_006717216.4:c.690G>T, XM_006717216.3:c.690G>A, XM_006717216.3:c.690G>T, XM_006717216.2:c.690G>A, XM_006717216.2:c.690G>T, XM_006717216.1:c.690G>A, XM_006717216.1:c.690G>T, XM_006717211.5:c.690G>A, XM_006717211.5:c.690G>T, XM_006717211.4:c.690G>A, XM_006717211.4:c.690G>T, XM_006717211.3:c.690G>A, XM_006717211.3:c.690G>T, XM_006717211.2:c.690G>A, XM_006717211.2:c.690G>T, XM_006717211.1:c.690G>A, XM_006717211.1:c.690G>T, XM_006717209.5:c.690G>A, XM_006717209.5:c.690G>T, XM_006717209.4:c.690G>A, XM_006717209.4:c.690G>T, XM_006717209.3:c.690G>A, XM_006717209.3:c.690G>T, XM_006717209.2:c.690G>A, XM_006717209.2:c.690G>T, XM_006717209.1:c.690G>A, XM_006717209.1:c.690G>T, XM_006717212.5:c.690G>A, XM_006717212.5:c.690G>T, XM_006717212.4:c.690G>A, XM_006717212.4:c.690G>T, XM_006717212.3:c.690G>A, XM_006717212.3:c.690G>T, XM_006717212.2:c.690G>A, XM_006717212.2:c.690G>T, XM_006717212.1:c.690G>A, XM_006717212.1:c.690G>T, XM_017014997.3:c.690G>A, XM_017014997.3:c.690G>T, XM_017014997.2:c.690G>A, XM_017014997.2:c.690G>T, XM_017014997.1:c.690G>A, XM_017014997.1:c.690G>T, XM_017014996.3:c.690G>A, XM_017014996.3:c.690G>T, XM_017014996.2:c.690G>A, XM_017014996.2:c.690G>T, XM_017014996.1:c.690G>A, XM_017014996.1:c.690G>T, XM_017014998.3:c.690G>A, XM_017014998.3:c.690G>T, XM_017014998.2:c.690G>A, XM_017014998.2:c.690G>T, XM_017014998.1:c.690G>A, XM_017014998.1:c.690G>T, XM_047423671.1:c.690G>A, XM_047423671.1:c.690G>T, XM_047423678.1:c.690G>A, XM_047423678.1:c.690G>T, XM_047423666.1:c.690G>A, XM_047423666.1:c.690G>T, XM_047423674.1:c.690G>A, XM_047423674.1:c.690G>T, XM_047423661.1:c.690G>A, XM_047423661.1:c.690G>T, XM_047423667.1:c.690G>A, XM_047423667.1:c.690G>T, XM_047423663.1:c.690G>A, XM_047423663.1:c.690G>T, XM_024447629.1:c.690G>A, XM_024447629.1:c.690G>T, XM_047423664.1:c.690G>A, XM_047423664.1:c.690G>T, XM_047423675.1:c.690G>A, XM_047423675.1:c.690G>T, XM_047423662.1:c.690G>A, XM_047423662.1:c.690G>T, XM_047423677.1:c.690G>A, XM_047423677.1:c.690G>T, XM_047423670.1:c.690G>A, XM_047423670.1:c.690G>T, XM_047423672.1:c.690G>A, XM_047423672.1:c.690G>T, XM_047423665.1:c.690G>A, XM_047423665.1:c.690G>T, XM_047423673.1:c.690G>A, XM_047423673.1:c.690G>T, XM_047423668.1:c.690G>A, XM_047423668.1:c.690G>T, XM_047423669.1:c.690G>A, XM_047423669.1:c.690G>T, XM_047423676.1:c.690G>A, XM_047423676.1:c.690G>T, XM_047423680.1:c.690G>A, XM_047423680.1:c.690G>T, XM_047423685.1:c.690G>A, XM_047423685.1:c.690G>T, XM_047423679.1:c.690G>A, XM_047423679.1:c.690G>T, XM_047423682.1:c.690G>A, XM_047423682.1:c.690G>T, XM_047423681.1:c.690G>A, XM_047423681.1:c.690G>T, XM_047423683.1:c.690G>A, XM_047423683.1:c.690G>T, XM_047423684.1:c.690G>A, XM_047423684.1:c.690G>T, NP_067047.4:p.Glu230Asp, NP_001334926.1:p.Glu230Asp, XP_006717278.1:p.Glu230Asp, XP_006717279.1:p.Glu230Asp, XP_006717274.1:p.Glu230Asp, XP_006717272.1:p.Glu230Asp, XP_006717275.1:p.Glu230Asp, XP_016870486.1:p.Glu230Asp, XP_016870485.1:p.Glu230Asp, XP_016870487.1:p.Glu230Asp, XP_047279627.1:p.Glu230Asp, XP_047279634.1:p.Glu230Asp, XP_047279622.1:p.Glu230Asp, XP_047279630.1:p.Glu230Asp, XP_047279617.1:p.Glu230Asp, XP_047279623.1:p.Glu230Asp, XP_047279619.1:p.Glu230Asp, XP_024303397.1:p.Glu230Asp, XP_047279620.1:p.Glu230Asp, XP_047279631.1:p.Glu230Asp, XP_047279618.1:p.Glu230Asp, XP_047279633.1:p.Glu230Asp, XP_047279626.1:p.Glu230Asp, XP_047279628.1:p.Glu230Asp, XP_047279621.1:p.Glu230Asp, XP_047279629.1:p.Glu230Asp, XP_047279624.1:p.Glu230Asp, XP_047279625.1:p.Glu230Asp, XP_047279632.1:p.Glu230Asp, XP_047279636.1:p.Glu230Asp, XP_047279641.1:p.Glu230Asp, XP_047279635.1:p.Glu230Asp, XP_047279638.1:p.Glu230Asp, XP_047279637.1:p.Glu230Asp, XP_047279639.1:p.Glu230Asp, XP_047279640.1:p.Glu230Asp

Select item 14869302228.

rs1486930222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:106928296 (GRCh38)
9:109690577 (GRCh37)
Canonical SPDI:: NC_000009.12:106928295:A:C
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.106928296A>C, NC_000009.11:g.109690577A>C, NG_052913.1:g.70200A>C, NM_021224.6:c.4384A>C, NM_021224.5:c.4384A>C, NM_021224.4:c.4384A>C, XM_006717215.5:c.4384A>C, XM_006717215.4:c.4384A>C, XM_006717215.3:c.4384A>C, XM_006717215.2:c.4384A>C, XM_006717215.1:c.4384A>C, XM_006717216.5:c.4384A>C, XM_006717216.4:c.4384A>C, XM_006717216.3:c.4384A>C, XM_006717216.2:c.4384A>C, XM_006717216.1:c.4384A>C, XM_006717211.5:c.4384A>C, XM_006717211.4:c.4384A>C, XM_006717211.3:c.4384A>C, XM_006717211.2:c.4384A>C, XM_006717211.1:c.4384A>C, XM_006717209.5:c.4384A>C, XM_006717209.4:c.4384A>C, XM_006717209.3:c.4384A>C, XM_006717209.2:c.4384A>C, XM_006717209.1:c.4384A>C, XM_006717212.5:c.4384A>C, XM_006717212.4:c.4384A>C, XM_006717212.3:c.4384A>C, XM_006717212.2:c.4384A>C, XM_006717212.1:c.4384A>C, XM_017014997.3:c.4384A>C, XM_017014997.2:c.4384A>C, XM_017014997.1:c.4384A>C, XM_017014996.3:c.4384A>C, XM_017014996.2:c.4384A>C, XM_017014996.1:c.4384A>C, XM_047423671.1:c.4384A>C, XM_047423678.1:c.4384A>C, XM_047423666.1:c.4384A>C, XM_047423674.1:c.4384A>C, XM_047423661.1:c.4384A>C, XM_047423667.1:c.4384A>C, XM_047423663.1:c.4384A>C, XM_024447629.1:c.4384A>C, XM_047423664.1:c.4384A>C, XM_047423675.1:c.4384A>C, XM_047423662.1:c.4384A>C, XM_047423677.1:c.4384A>C, XM_047423670.1:c.4384A>C, XM_047423672.1:c.4384A>C, XM_047423665.1:c.4384A>C, XM_047423673.1:c.4384A>C, XM_047423668.1:c.4384A>C, XM_047423669.1:c.4384A>C, XM_047423676.1:c.4384A>C, NP_067047.4:p.Asn1462His, XP_006717278.1:p.Asn1462His, XP_006717279.1:p.Asn1462His, XP_006717274.1:p.Asn1462His, XP_006717272.1:p.Asn1462His, XP_006717275.1:p.Asn1462His, XP_016870486.1:p.Asn1462His, XP_016870485.1:p.Asn1462His, XP_047279627.1:p.Asn1462His, XP_047279634.1:p.Asn1462His, XP_047279622.1:p.Asn1462His, XP_047279630.1:p.Asn1462His, XP_047279617.1:p.Asn1462His, XP_047279623.1:p.Asn1462His, XP_047279619.1:p.Asn1462His, XP_024303397.1:p.Asn1462His, XP_047279620.1:p.Asn1462His, XP_047279631.1:p.Asn1462His, XP_047279618.1:p.Asn1462His, XP_047279633.1:p.Asn1462His, XP_047279626.1:p.Asn1462His, XP_047279628.1:p.Asn1462His, XP_047279621.1:p.Asn1462His, XP_047279629.1:p.Asn1462His, XP_047279624.1:p.Asn1462His, XP_047279625.1:p.Asn1462His, XP_047279632.1:p.Asn1462His

Select item 14865330079.

rs1486533007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:106924393 (GRCh38)
9:109686674 (GRCh37)
Canonical SPDI:: NC_000009.12:106924392:G:T
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.106924393G>T, NC_000009.11:g.109686674G>T, NG_052913.1:g.66297G>T, NM_021224.6:c.481G>T, NM_021224.5:c.481G>T, NM_021224.4:c.481G>T, NM_001347997.2:c.481G>T, NM_001347997.1:c.481G>T, XM_006717215.5:c.481G>T, XM_006717215.4:c.481G>T, XM_006717215.3:c.481G>T, XM_006717215.2:c.481G>T, XM_006717215.1:c.481G>T, XM_006717216.5:c.481G>T, XM_006717216.4:c.481G>T, XM_006717216.3:c.481G>T, XM_006717216.2:c.481G>T, XM_006717216.1:c.481G>T, XM_006717211.5:c.481G>T, XM_006717211.4:c.481G>T, XM_006717211.3:c.481G>T, XM_006717211.2:c.481G>T, XM_006717211.1:c.481G>T, XM_006717209.5:c.481G>T, XM_006717209.4:c.481G>T, XM_006717209.3:c.481G>T, XM_006717209.2:c.481G>T, XM_006717209.1:c.481G>T, XM_006717212.5:c.481G>T, XM_006717212.4:c.481G>T, XM_006717212.3:c.481G>T, XM_006717212.2:c.481G>T, XM_006717212.1:c.481G>T, XM_017014997.3:c.481G>T, XM_017014997.2:c.481G>T, XM_017014997.1:c.481G>T, XM_017014996.3:c.481G>T, XM_017014996.2:c.481G>T, XM_017014996.1:c.481G>T, XM_017014998.3:c.481G>T, XM_017014998.2:c.481G>T, XM_017014998.1:c.481G>T, XM_047423671.1:c.481G>T, XM_047423678.1:c.481G>T, XM_047423666.1:c.481G>T, XM_047423674.1:c.481G>T, XM_047423661.1:c.481G>T, XM_047423667.1:c.481G>T, XM_047423663.1:c.481G>T, XM_024447629.1:c.481G>T, XM_047423664.1:c.481G>T, XM_047423675.1:c.481G>T, XM_047423662.1:c.481G>T, XM_047423677.1:c.481G>T, XM_047423670.1:c.481G>T, XM_047423672.1:c.481G>T, XM_047423665.1:c.481G>T, XM_047423673.1:c.481G>T, XM_047423668.1:c.481G>T, XM_047423669.1:c.481G>T, XM_047423676.1:c.481G>T, XM_047423680.1:c.481G>T, XM_047423685.1:c.481G>T, XM_047423679.1:c.481G>T, XM_047423682.1:c.481G>T, XM_047423681.1:c.481G>T, XM_047423683.1:c.481G>T, XM_047423684.1:c.481G>T, NP_067047.4:p.Val161Phe, NP_001334926.1:p.Val161Phe, XP_006717278.1:p.Val161Phe, XP_006717279.1:p.Val161Phe, XP_006717274.1:p.Val161Phe, XP_006717272.1:p.Val161Phe, XP_006717275.1:p.Val161Phe, XP_016870486.1:p.Val161Phe, XP_016870485.1:p.Val161Phe, XP_016870487.1:p.Val161Phe, XP_047279627.1:p.Val161Phe, XP_047279634.1:p.Val161Phe, XP_047279622.1:p.Val161Phe, XP_047279630.1:p.Val161Phe, XP_047279617.1:p.Val161Phe, XP_047279623.1:p.Val161Phe, XP_047279619.1:p.Val161Phe, XP_024303397.1:p.Val161Phe, XP_047279620.1:p.Val161Phe, XP_047279631.1:p.Val161Phe, XP_047279618.1:p.Val161Phe, XP_047279633.1:p.Val161Phe, XP_047279626.1:p.Val161Phe, XP_047279628.1:p.Val161Phe, XP_047279621.1:p.Val161Phe, XP_047279629.1:p.Val161Phe, XP_047279624.1:p.Val161Phe, XP_047279625.1:p.Val161Phe, XP_047279632.1:p.Val161Phe, XP_047279636.1:p.Val161Phe, XP_047279641.1:p.Val161Phe, XP_047279635.1:p.Val161Phe, XP_047279638.1:p.Val161Phe, XP_047279637.1:p.Val161Phe, XP_047279639.1:p.Val161Phe, XP_047279640.1:p.Val161Phe

Select item 148625656310.

rs1486256563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:106924751 (GRCh38)
9:109687032 (GRCh37)
Canonical SPDI:: NC_000009.12:106924750:A:G
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.106924751A>G, NC_000009.11:g.109687032A>G, NG_052913.1:g.66655A>G, NM_021224.6:c.839A>G, NM_021224.5:c.839A>G, NM_021224.4:c.839A>G, NM_001347997.2:c.839A>G, NM_001347997.1:c.839A>G, XM_006717215.5:c.839A>G, XM_006717215.4:c.839A>G, XM_006717215.3:c.839A>G, XM_006717215.2:c.839A>G, XM_006717215.1:c.839A>G, XM_006717216.5:c.839A>G, XM_006717216.4:c.839A>G, XM_006717216.3:c.839A>G, XM_006717216.2:c.839A>G, XM_006717216.1:c.839A>G, XM_006717211.5:c.839A>G, XM_006717211.4:c.839A>G, XM_006717211.3:c.839A>G, XM_006717211.2:c.839A>G, XM_006717211.1:c.839A>G, XM_006717209.5:c.839A>G, XM_006717209.4:c.839A>G, XM_006717209.3:c.839A>G, XM_006717209.2:c.839A>G, XM_006717209.1:c.839A>G, XM_006717212.5:c.839A>G, XM_006717212.4:c.839A>G, XM_006717212.3:c.839A>G, XM_006717212.2:c.839A>G, XM_006717212.1:c.839A>G, XM_017014997.3:c.839A>G, XM_017014997.2:c.839A>G, XM_017014997.1:c.839A>G, XM_017014996.3:c.839A>G, XM_017014996.2:c.839A>G, XM_017014996.1:c.839A>G, XM_017014998.3:c.839A>G, XM_017014998.2:c.839A>G, XM_017014998.1:c.839A>G, XM_047423671.1:c.839A>G, XM_047423678.1:c.839A>G, XM_047423666.1:c.839A>G, XM_047423674.1:c.839A>G, XM_047423661.1:c.839A>G, XM_047423667.1:c.839A>G, XM_047423663.1:c.839A>G, XM_024447629.1:c.839A>G, XM_047423664.1:c.839A>G, XM_047423675.1:c.839A>G, XM_047423662.1:c.839A>G, XM_047423677.1:c.839A>G, XM_047423670.1:c.839A>G, XM_047423672.1:c.839A>G, XM_047423665.1:c.839A>G, XM_047423673.1:c.839A>G, XM_047423668.1:c.839A>G, XM_047423669.1:c.839A>G, XM_047423676.1:c.839A>G, XM_047423680.1:c.839A>G, XM_047423685.1:c.839A>G, XM_047423679.1:c.839A>G, XM_047423682.1:c.839A>G, XM_047423681.1:c.839A>G, XM_047423683.1:c.839A>G, XM_047423684.1:c.839A>G, NP_067047.4:p.Gln280Arg, NP_001334926.1:p.Gln280Arg, XP_006717278.1:p.Gln280Arg, XP_006717279.1:p.Gln280Arg, XP_006717274.1:p.Gln280Arg, XP_006717272.1:p.Gln280Arg, XP_006717275.1:p.Gln280Arg, XP_016870486.1:p.Gln280Arg, XP_016870485.1:p.Gln280Arg, XP_016870487.1:p.Gln280Arg, XP_047279627.1:p.Gln280Arg, XP_047279634.1:p.Gln280Arg, XP_047279622.1:p.Gln280Arg, XP_047279630.1:p.Gln280Arg, XP_047279617.1:p.Gln280Arg, XP_047279623.1:p.Gln280Arg, XP_047279619.1:p.Gln280Arg, XP_024303397.1:p.Gln280Arg, XP_047279620.1:p.Gln280Arg, XP_047279631.1:p.Gln280Arg, XP_047279618.1:p.Gln280Arg, XP_047279633.1:p.Gln280Arg, XP_047279626.1:p.Gln280Arg, XP_047279628.1:p.Gln280Arg, XP_047279621.1:p.Gln280Arg, XP_047279629.1:p.Gln280Arg, XP_047279624.1:p.Gln280Arg, XP_047279625.1:p.Gln280Arg, XP_047279632.1:p.Gln280Arg, XP_047279636.1:p.Gln280Arg, XP_047279641.1:p.Gln280Arg, XP_047279635.1:p.Gln280Arg, XP_047279638.1:p.Gln280Arg, XP_047279637.1:p.Gln280Arg, XP_047279639.1:p.Gln280Arg, XP_047279640.1:p.Gln280Arg

Select item 148625054511.

rs1486250545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:107009577 (GRCh38)
9:109771858 (GRCh37)
Canonical SPDI:: NC_000009.12:107009576:C:G
Gene:: ZNF462 (Varview), LOC340512 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.107009577C>G, NC_000009.11:g.109771858C>G, NG_052913.1:g.151481C>G, NM_021224.6:c.7222C>G, NM_021224.5:c.7222C>G, NM_021224.4:c.7222C>G, NM_001347997.2:c.4627C>G, NM_001347997.1:c.4627C>G, XM_006717215.5:c.7402C>G, XM_006717215.4:c.7402C>G, XM_006717215.3:c.7402C>G, XM_006717215.2:c.7402C>G, XM_006717215.1:c.7402C>G, XM_006717216.5:c.7222C>G, XM_006717216.4:c.7222C>G, XM_006717216.3:c.7222C>G, XM_006717216.2:c.7222C>G, XM_006717216.1:c.7222C>G, XM_006717211.5:c.7405C>G, XM_006717211.4:c.7405C>G, XM_006717211.3:c.7405C>G, XM_006717211.2:c.7405C>G, XM_006717211.1:c.7405C>G, XM_006717209.5:c.7405C>G, XM_006717209.4:c.7405C>G, XM_006717209.3:c.7405C>G, XM_006717209.2:c.7405C>G, XM_006717209.1:c.7405C>G, XM_006717212.5:c.7405C>G, XM_006717212.4:c.7405C>G, XM_006717212.3:c.7405C>G, XM_006717212.2:c.7405C>G, XM_006717212.1:c.7405C>G, XM_017014997.3:c.7405C>G, XM_017014997.2:c.7405C>G, XM_017014997.1:c.7405C>G, XM_017014996.3:c.7405C>G, XM_017014996.2:c.7405C>G, XM_017014996.1:c.7405C>G, XM_017014998.3:c.4627C>G, XM_017014998.2:c.4627C>G, XM_017014998.1:c.4627C>G, XM_047423671.1:c.7402C>G, XM_047423678.1:c.7222C>G, XM_047423666.1:c.7405C>G, XM_047423674.1:c.7222C>G, XM_047423661.1:c.7405C>G, XM_047423667.1:c.7405C>G, XM_047423663.1:c.7405C>G, XM_024447629.1:c.7405C>G, XM_047423664.1:c.7405C>G, XM_047423675.1:c.7222C>G, XM_047423662.1:c.7405C>G, XM_047423677.1:c.7222C>G, XM_047423670.1:c.7402C>G, XM_047423672.1:c.7222C>G, XM_047423665.1:c.7405C>G, XM_047423673.1:c.7222C>G, XM_047423668.1:c.7402C>G, XM_047423669.1:c.7402C>G, XM_047423676.1:c.7222C>G, XM_047423680.1:c.4810C>G, XM_047423685.1:c.4627C>G, XM_047423679.1:c.4810C>G, XM_047423682.1:c.4807C>G, XM_047423681.1:c.4810C>G, XM_047423683.1:c.4807C>G, XM_047423684.1:c.4627C>G, NP_067047.4:p.Leu2408Val, NP_001334926.1:p.Leu1543Val, XP_006717278.1:p.Leu2468Val, XP_006717279.1:p.Leu2408Val, XP_006717274.1:p.Leu2469Val, XP_006717272.1:p.Leu2469Val, XP_006717275.1:p.Leu2469Val, XP_016870486.1:p.Leu2469Val, XP_016870485.1:p.Leu2469Val, XP_016870487.1:p.Leu1543Val, XP_047279627.1:p.Leu2468Val, XP_047279634.1:p.Leu2408Val, XP_047279622.1:p.Leu2469Val, XP_047279630.1:p.Leu2408Val, XP_047279617.1:p.Leu2469Val, XP_047279623.1:p.Leu2469Val, XP_047279619.1:p.Leu2469Val, XP_024303397.1:p.Leu2469Val, XP_047279620.1:p.Leu2469Val, XP_047279631.1:p.Leu2408Val, XP_047279618.1:p.Leu2469Val, XP_047279633.1:p.Leu2408Val, XP_047279626.1:p.Leu2468Val, XP_047279628.1:p.Leu2408Val, XP_047279621.1:p.Leu2469Val, XP_047279629.1:p.Leu2408Val, XP_047279624.1:p.Leu2468Val, XP_047279625.1:p.Leu2468Val, XP_047279632.1:p.Leu2408Val, XP_047279636.1:p.Leu1604Val, XP_047279641.1:p.Leu1543Val, XP_047279635.1:p.Leu1604Val, XP_047279638.1:p.Leu1603Val, XP_047279637.1:p.Leu1604Val, XP_047279639.1:p.Leu1603Val, XP_047279640.1:p.Leu1543Val

Select item 148358913812.

rs1483589138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:106928694 (GRCh38)
9:109690975 (GRCh37)
Canonical SPDI:: NC_000009.12:106928693:C:A,NC_000009.12:106928693:C:G
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.106928694C>A, NC_000009.12:g.106928694C>G, NC_000009.11:g.109690975C>A, NC_000009.11:g.109690975C>G, NG_052913.1:g.70598C>A, NG_052913.1:g.70598C>G, NM_021224.6:c.4782C>A, NM_021224.6:c.4782C>G, NM_021224.5:c.4782C>A, NM_021224.5:c.4782C>G, NM_021224.4:c.4782C>A, NM_021224.4:c.4782C>G, XM_006717215.5:c.4782C>A, XM_006717215.5:c.4782C>G, XM_006717215.4:c.4782C>A, XM_006717215.4:c.4782C>G, XM_006717215.3:c.4782C>A, XM_006717215.3:c.4782C>G, XM_006717215.2:c.4782C>A, XM_006717215.2:c.4782C>G, XM_006717215.1:c.4782C>A, XM_006717215.1:c.4782C>G, XM_006717216.5:c.4782C>A, XM_006717216.5:c.4782C>G, XM_006717216.4:c.4782C>A, XM_006717216.4:c.4782C>G, XM_006717216.3:c.4782C>A, XM_006717216.3:c.4782C>G, XM_006717216.2:c.4782C>A, XM_006717216.2:c.4782C>G, XM_006717216.1:c.4782C>A, XM_006717216.1:c.4782C>G, XM_006717211.5:c.4782C>A, XM_006717211.5:c.4782C>G, XM_006717211.4:c.4782C>A, XM_006717211.4:c.4782C>G, XM_006717211.3:c.4782C>A, XM_006717211.3:c.4782C>G, XM_006717211.2:c.4782C>A, XM_006717211.2:c.4782C>G, XM_006717211.1:c.4782C>A, XM_006717211.1:c.4782C>G, XM_006717209.5:c.4782C>A, XM_006717209.5:c.4782C>G, XM_006717209.4:c.4782C>A, XM_006717209.4:c.4782C>G, XM_006717209.3:c.4782C>A, XM_006717209.3:c.4782C>G, XM_006717209.2:c.4782C>A, XM_006717209.2:c.4782C>G, XM_006717209.1:c.4782C>A, XM_006717209.1:c.4782C>G, XM_006717212.5:c.4782C>A, XM_006717212.5:c.4782C>G, XM_006717212.4:c.4782C>A, XM_006717212.4:c.4782C>G, XM_006717212.3:c.4782C>A, XM_006717212.3:c.4782C>G, XM_006717212.2:c.4782C>A, XM_006717212.2:c.4782C>G, XM_006717212.1:c.4782C>A, XM_006717212.1:c.4782C>G, XM_017014997.3:c.4782C>A, XM_017014997.3:c.4782C>G, XM_017014997.2:c.4782C>A, XM_017014997.2:c.4782C>G, XM_017014997.1:c.4782C>A, XM_017014997.1:c.4782C>G, XM_017014996.3:c.4782C>A, XM_017014996.3:c.4782C>G, XM_017014996.2:c.4782C>A, XM_017014996.2:c.4782C>G, XM_017014996.1:c.4782C>A, XM_017014996.1:c.4782C>G, XM_047423671.1:c.4782C>A, XM_047423671.1:c.4782C>G, XM_047423678.1:c.4782C>A, XM_047423678.1:c.4782C>G, XM_047423666.1:c.4782C>A, XM_047423666.1:c.4782C>G, XM_047423674.1:c.4782C>A, XM_047423674.1:c.4782C>G, XM_047423661.1:c.4782C>A, XM_047423661.1:c.4782C>G, XM_047423667.1:c.4782C>A, XM_047423667.1:c.4782C>G, XM_047423663.1:c.4782C>A, XM_047423663.1:c.4782C>G, XM_024447629.1:c.4782C>A, XM_024447629.1:c.4782C>G, XM_047423664.1:c.4782C>A, XM_047423664.1:c.4782C>G, XM_047423675.1:c.4782C>A, XM_047423675.1:c.4782C>G, XM_047423662.1:c.4782C>A, XM_047423662.1:c.4782C>G, XM_047423677.1:c.4782C>A, XM_047423677.1:c.4782C>G, XM_047423670.1:c.4782C>A, XM_047423670.1:c.4782C>G, XM_047423672.1:c.4782C>A, XM_047423672.1:c.4782C>G, XM_047423665.1:c.4782C>A, XM_047423665.1:c.4782C>G, XM_047423673.1:c.4782C>A, XM_047423673.1:c.4782C>G, XM_047423668.1:c.4782C>A, XM_047423668.1:c.4782C>G, XM_047423669.1:c.4782C>A, XM_047423669.1:c.4782C>G, XM_047423676.1:c.4782C>A, XM_047423676.1:c.4782C>G, NP_067047.4:p.Ile1594Met, XP_006717278.1:p.Ile1594Met, XP_006717279.1:p.Ile1594Met, XP_006717274.1:p.Ile1594Met, XP_006717272.1:p.Ile1594Met, XP_006717275.1:p.Ile1594Met, XP_016870486.1:p.Ile1594Met, XP_016870485.1:p.Ile1594Met, XP_047279627.1:p.Ile1594Met, XP_047279634.1:p.Ile1594Met, XP_047279622.1:p.Ile1594Met, XP_047279630.1:p.Ile1594Met, XP_047279617.1:p.Ile1594Met, XP_047279623.1:p.Ile1594Met, XP_047279619.1:p.Ile1594Met, XP_024303397.1:p.Ile1594Met, XP_047279620.1:p.Ile1594Met, XP_047279631.1:p.Ile1594Met, XP_047279618.1:p.Ile1594Met, XP_047279633.1:p.Ile1594Met, XP_047279626.1:p.Ile1594Met, XP_047279628.1:p.Ile1594Met, XP_047279621.1:p.Ile1594Met, XP_047279629.1:p.Ile1594Met, XP_047279624.1:p.Ile1594Met, XP_047279625.1:p.Ile1594Met, XP_047279632.1:p.Ile1594Met

Select item 148317106313.

rs1483171063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:106938999 (GRCh38)
9:109701280 (GRCh37)
Canonical SPDI:: NC_000009.12:106938998:G:A
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.106938999G>A, NC_000009.11:g.109701280G>A, NG_052913.1:g.80903G>A, NM_021224.6:c.6319G>A, NM_021224.5:c.6319G>A, NM_021224.4:c.6319G>A, NM_001347997.2:c.3724G>A, NM_001347997.1:c.3724G>A, XM_006717215.5:c.6499G>A, XM_006717215.4:c.6499G>A, XM_006717215.3:c.6499G>A, XM_006717215.2:c.6499G>A, XM_006717215.1:c.6499G>A, XM_006717216.5:c.6319G>A, XM_006717216.4:c.6319G>A, XM_006717216.3:c.6319G>A, XM_006717216.2:c.6319G>A, XM_006717216.1:c.6319G>A, XM_006717211.5:c.6502G>A, XM_006717211.4:c.6502G>A, XM_006717211.3:c.6502G>A, XM_006717211.2:c.6502G>A, XM_006717211.1:c.6502G>A, XM_006717209.5:c.6502G>A, XM_006717209.4:c.6502G>A, XM_006717209.3:c.6502G>A, XM_006717209.2:c.6502G>A, XM_006717209.1:c.6502G>A, XM_006717212.5:c.6502G>A, XM_006717212.4:c.6502G>A, XM_006717212.3:c.6502G>A, XM_006717212.2:c.6502G>A, XM_006717212.1:c.6502G>A, XM_017014997.3:c.6502G>A, XM_017014997.2:c.6502G>A, XM_017014997.1:c.6502G>A, XM_017014996.3:c.6502G>A, XM_017014996.2:c.6502G>A, XM_017014996.1:c.6502G>A, XM_017014998.3:c.3724G>A, XM_017014998.2:c.3724G>A, XM_017014998.1:c.3724G>A, XM_047423671.1:c.6499G>A, XM_047423678.1:c.6319G>A, XM_047423666.1:c.6502G>A, XM_047423674.1:c.6319G>A, XM_047423661.1:c.6502G>A, XM_047423667.1:c.6502G>A, XM_047423663.1:c.6502G>A, XM_024447629.1:c.6502G>A, XM_047423664.1:c.6502G>A, XM_047423675.1:c.6319G>A, XM_047423662.1:c.6502G>A, XM_047423677.1:c.6319G>A, XM_047423670.1:c.6499G>A, XM_047423672.1:c.6319G>A, XM_047423665.1:c.6502G>A, XM_047423673.1:c.6319G>A, XM_047423668.1:c.6499G>A, XM_047423669.1:c.6499G>A, XM_047423676.1:c.6319G>A, XM_047423680.1:c.3907G>A, XM_047423685.1:c.3724G>A, XM_047423679.1:c.3907G>A, XM_047423682.1:c.3904G>A, XM_047423681.1:c.3907G>A, XM_047423683.1:c.3904G>A, XM_047423684.1:c.3724G>A, NP_067047.4:p.Gly2107Arg, NP_001334926.1:p.Gly1242Arg, XP_006717278.1:p.Gly2167Arg, XP_006717279.1:p.Gly2107Arg, XP_006717274.1:p.Gly2168Arg, XP_006717272.1:p.Gly2168Arg, XP_006717275.1:p.Gly2168Arg, XP_016870486.1:p.Gly2168Arg, XP_016870485.1:p.Gly2168Arg, XP_016870487.1:p.Gly1242Arg, XP_047279627.1:p.Gly2167Arg, XP_047279634.1:p.Gly2107Arg, XP_047279622.1:p.Gly2168Arg, XP_047279630.1:p.Gly2107Arg, XP_047279617.1:p.Gly2168Arg, XP_047279623.1:p.Gly2168Arg, XP_047279619.1:p.Gly2168Arg, XP_024303397.1:p.Gly2168Arg, XP_047279620.1:p.Gly2168Arg, XP_047279631.1:p.Gly2107Arg, XP_047279618.1:p.Gly2168Arg, XP_047279633.1:p.Gly2107Arg, XP_047279626.1:p.Gly2167Arg, XP_047279628.1:p.Gly2107Arg, XP_047279621.1:p.Gly2168Arg, XP_047279629.1:p.Gly2107Arg, XP_047279624.1:p.Gly2167Arg, XP_047279625.1:p.Gly2167Arg, XP_047279632.1:p.Gly2107Arg, XP_047279636.1:p.Gly1303Arg, XP_047279641.1:p.Gly1242Arg, XP_047279635.1:p.Gly1303Arg, XP_047279638.1:p.Gly1302Arg, XP_047279637.1:p.Gly1303Arg, XP_047279639.1:p.Gly1302Arg, XP_047279640.1:p.Gly1242Arg

Select item 148253717114.

rs1482537171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:106928557 (GRCh38)
9:109690838 (GRCh37)
Canonical SPDI:: NC_000009.12:106928556:G:A
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.106928557G>A, NC_000009.11:g.109690838G>A, NG_052913.1:g.70461G>A, NM_021224.6:c.4645G>A, NM_021224.5:c.4645G>A, NM_021224.4:c.4645G>A, XM_006717215.5:c.4645G>A, XM_006717215.4:c.4645G>A, XM_006717215.3:c.4645G>A, XM_006717215.2:c.4645G>A, XM_006717215.1:c.4645G>A, XM_006717216.5:c.4645G>A, XM_006717216.4:c.4645G>A, XM_006717216.3:c.4645G>A, XM_006717216.2:c.4645G>A, XM_006717216.1:c.4645G>A, XM_006717211.5:c.4645G>A, XM_006717211.4:c.4645G>A, XM_006717211.3:c.4645G>A, XM_006717211.2:c.4645G>A, XM_006717211.1:c.4645G>A, XM_006717209.5:c.4645G>A, XM_006717209.4:c.4645G>A, XM_006717209.3:c.4645G>A, XM_006717209.2:c.4645G>A, XM_006717209.1:c.4645G>A, XM_006717212.5:c.4645G>A, XM_006717212.4:c.4645G>A, XM_006717212.3:c.4645G>A, XM_006717212.2:c.4645G>A, XM_006717212.1:c.4645G>A, XM_017014997.3:c.4645G>A, XM_017014997.2:c.4645G>A, XM_017014997.1:c.4645G>A, XM_017014996.3:c.4645G>A, XM_017014996.2:c.4645G>A, XM_017014996.1:c.4645G>A, XM_047423671.1:c.4645G>A, XM_047423678.1:c.4645G>A, XM_047423666.1:c.4645G>A, XM_047423674.1:c.4645G>A, XM_047423661.1:c.4645G>A, XM_047423667.1:c.4645G>A, XM_047423663.1:c.4645G>A, XM_024447629.1:c.4645G>A, XM_047423664.1:c.4645G>A, XM_047423675.1:c.4645G>A, XM_047423662.1:c.4645G>A, XM_047423677.1:c.4645G>A, XM_047423670.1:c.4645G>A, XM_047423672.1:c.4645G>A, XM_047423665.1:c.4645G>A, XM_047423673.1:c.4645G>A, XM_047423668.1:c.4645G>A, XM_047423669.1:c.4645G>A, XM_047423676.1:c.4645G>A, NP_067047.4:p.Val1549Met, XP_006717278.1:p.Val1549Met, XP_006717279.1:p.Val1549Met, XP_006717274.1:p.Val1549Met, XP_006717272.1:p.Val1549Met, XP_006717275.1:p.Val1549Met, XP_016870486.1:p.Val1549Met, XP_016870485.1:p.Val1549Met, XP_047279627.1:p.Val1549Met, XP_047279634.1:p.Val1549Met, XP_047279622.1:p.Val1549Met, XP_047279630.1:p.Val1549Met, XP_047279617.1:p.Val1549Met, XP_047279623.1:p.Val1549Met, XP_047279619.1:p.Val1549Met, XP_024303397.1:p.Val1549Met, XP_047279620.1:p.Val1549Met, XP_047279631.1:p.Val1549Met, XP_047279618.1:p.Val1549Met, XP_047279633.1:p.Val1549Met, XP_047279626.1:p.Val1549Met, XP_047279628.1:p.Val1549Met, XP_047279621.1:p.Val1549Met, XP_047279629.1:p.Val1549Met, XP_047279624.1:p.Val1549Met, XP_047279625.1:p.Val1549Met, XP_047279632.1:p.Val1549Met

Select item 148246496215.

rs1482464962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:106929324 (GRCh38)
9:109691605 (GRCh37)
Canonical SPDI:: NC_000009.12:106929323:G:A
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.106929324G>A, NC_000009.11:g.109691605G>A, NG_052913.1:g.71228G>A, NM_021224.6:c.5412G>A, NM_021224.5:c.5412G>A, NM_021224.4:c.5412G>A, XM_006717215.5:c.5412G>A, XM_006717215.4:c.5412G>A, XM_006717215.3:c.5412G>A, XM_006717215.2:c.5412G>A, XM_006717215.1:c.5412G>A, XM_006717216.5:c.5412G>A, XM_006717216.4:c.5412G>A, XM_006717216.3:c.5412G>A, XM_006717216.2:c.5412G>A, XM_006717216.1:c.5412G>A, XM_006717211.5:c.5412G>A, XM_006717211.4:c.5412G>A, XM_006717211.3:c.5412G>A, XM_006717211.2:c.5412G>A, XM_006717211.1:c.5412G>A, XM_006717209.5:c.5412G>A, XM_006717209.4:c.5412G>A, XM_006717209.3:c.5412G>A, XM_006717209.2:c.5412G>A, XM_006717209.1:c.5412G>A, XM_006717212.5:c.5412G>A, XM_006717212.4:c.5412G>A, XM_006717212.3:c.5412G>A, XM_006717212.2:c.5412G>A, XM_006717212.1:c.5412G>A, XM_017014997.3:c.5412G>A, XM_017014997.2:c.5412G>A, XM_017014997.1:c.5412G>A, XM_017014996.3:c.5412G>A, XM_017014996.2:c.5412G>A, XM_017014996.1:c.5412G>A, XM_047423671.1:c.5412G>A, XM_047423678.1:c.5412G>A, XM_047423666.1:c.5412G>A, XM_047423674.1:c.5412G>A, XM_047423661.1:c.5412G>A, XM_047423667.1:c.5412G>A, XM_047423663.1:c.5412G>A, XM_024447629.1:c.5412G>A, XM_047423664.1:c.5412G>A, XM_047423675.1:c.5412G>A, XM_047423662.1:c.5412G>A, XM_047423677.1:c.5412G>A, XM_047423670.1:c.5412G>A, XM_047423672.1:c.5412G>A, XM_047423665.1:c.5412G>A, XM_047423673.1:c.5412G>A, XM_047423668.1:c.5412G>A, XM_047423669.1:c.5412G>A, XM_047423676.1:c.5412G>A

Select item 148208672516.

rs1482086725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:107003378 (GRCh38)
9:109765659 (GRCh37)
Canonical SPDI:: NC_000009.12:107003377:G:A
Gene:: ZNF462 (Varview), LOC340512 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.107003378G>A, NC_000009.11:g.109765659G>A, NG_052913.1:g.145282G>A, NM_021224.6:c.7141G>A, NM_021224.5:c.7141G>A, NM_021224.4:c.7141G>A, NM_001347997.2:c.4546G>A, NM_001347997.1:c.4546G>A, XM_006717215.5:c.7321G>A, XM_006717215.4:c.7321G>A, XM_006717215.3:c.7321G>A, XM_006717215.2:c.7321G>A, XM_006717215.1:c.7321G>A, XM_006717216.5:c.7141G>A, XM_006717216.4:c.7141G>A, XM_006717216.3:c.7141G>A, XM_006717216.2:c.7141G>A, XM_006717216.1:c.7141G>A, XM_006717211.5:c.7324G>A, XM_006717211.4:c.7324G>A, XM_006717211.3:c.7324G>A, XM_006717211.2:c.7324G>A, XM_006717211.1:c.7324G>A, XM_006717209.5:c.7324G>A, XM_006717209.4:c.7324G>A, XM_006717209.3:c.7324G>A, XM_006717209.2:c.7324G>A, XM_006717209.1:c.7324G>A, XM_006717212.5:c.7324G>A, XM_006717212.4:c.7324G>A, XM_006717212.3:c.7324G>A, XM_006717212.2:c.7324G>A, XM_006717212.1:c.7324G>A, XM_017014997.3:c.7324G>A, XM_017014997.2:c.7324G>A, XM_017014997.1:c.7324G>A, XM_017014996.3:c.7324G>A, XM_017014996.2:c.7324G>A, XM_017014996.1:c.7324G>A, XM_017014998.3:c.4546G>A, XM_017014998.2:c.4546G>A, XM_017014998.1:c.4546G>A, XM_047423671.1:c.7321G>A, XM_047423678.1:c.7141G>A, XM_047423666.1:c.7324G>A, XM_047423674.1:c.7141G>A, XM_047423661.1:c.7324G>A, XM_047423667.1:c.7324G>A, XM_047423663.1:c.7324G>A, XM_024447629.1:c.7324G>A, XM_047423664.1:c.7324G>A, XM_047423675.1:c.7141G>A, XM_047423662.1:c.7324G>A, XM_047423677.1:c.7141G>A, XM_047423670.1:c.7321G>A, XM_047423672.1:c.7141G>A, XM_047423665.1:c.7324G>A, XM_047423673.1:c.7141G>A, XM_047423668.1:c.7321G>A, XM_047423669.1:c.7321G>A, XM_047423676.1:c.7141G>A, XM_047423680.1:c.4729G>A, XM_047423685.1:c.4546G>A, XM_047423679.1:c.4729G>A, XM_047423682.1:c.4726G>A, XM_047423681.1:c.4729G>A, XM_047423683.1:c.4726G>A, XM_047423684.1:c.4546G>A, NP_067047.4:p.Asp2381Asn, NP_001334926.1:p.Asp1516Asn, XP_006717278.1:p.Asp2441Asn, XP_006717279.1:p.Asp2381Asn, XP_006717274.1:p.Asp2442Asn, XP_006717272.1:p.Asp2442Asn, XP_006717275.1:p.Asp2442Asn, XP_016870486.1:p.Asp2442Asn, XP_016870485.1:p.Asp2442Asn, XP_016870487.1:p.Asp1516Asn, XP_047279627.1:p.Asp2441Asn, XP_047279634.1:p.Asp2381Asn, XP_047279622.1:p.Asp2442Asn, XP_047279630.1:p.Asp2381Asn, XP_047279617.1:p.Asp2442Asn, XP_047279623.1:p.Asp2442Asn, XP_047279619.1:p.Asp2442Asn, XP_024303397.1:p.Asp2442Asn, XP_047279620.1:p.Asp2442Asn, XP_047279631.1:p.Asp2381Asn, XP_047279618.1:p.Asp2442Asn, XP_047279633.1:p.Asp2381Asn, XP_047279626.1:p.Asp2441Asn, XP_047279628.1:p.Asp2381Asn, XP_047279621.1:p.Asp2442Asn, XP_047279629.1:p.Asp2381Asn, XP_047279624.1:p.Asp2441Asn, XP_047279625.1:p.Asp2441Asn, XP_047279632.1:p.Asp2381Asn, XP_047279636.1:p.Asp1577Asn, XP_047279641.1:p.Asp1516Asn, XP_047279635.1:p.Asp1577Asn, XP_047279638.1:p.Asp1576Asn, XP_047279637.1:p.Asp1577Asn, XP_047279639.1:p.Asp1576Asn, XP_047279640.1:p.Asp1516Asn

Select item 148116882017.

rs1481168820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:106929750 (GRCh38)
9:109692031 (GRCh37)
Canonical SPDI:: NC_000009.12:106929749:A:G
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.106929750A>G, NC_000009.11:g.109692031A>G, NG_052913.1:g.71654A>G, NM_021224.6:c.5838A>G, NM_021224.5:c.5838A>G, NM_021224.4:c.5838A>G, XM_006717215.5:c.5838A>G, XM_006717215.4:c.5838A>G, XM_006717215.3:c.5838A>G, XM_006717215.2:c.5838A>G, XM_006717215.1:c.5838A>G, XM_006717216.5:c.5838A>G, XM_006717216.4:c.5838A>G, XM_006717216.3:c.5838A>G, XM_006717216.2:c.5838A>G, XM_006717216.1:c.5838A>G, XM_006717211.5:c.5838A>G, XM_006717211.4:c.5838A>G, XM_006717211.3:c.5838A>G, XM_006717211.2:c.5838A>G, XM_006717211.1:c.5838A>G, XM_006717209.5:c.5838A>G, XM_006717209.4:c.5838A>G, XM_006717209.3:c.5838A>G, XM_006717209.2:c.5838A>G, XM_006717209.1:c.5838A>G, XM_006717212.5:c.5838A>G, XM_006717212.4:c.5838A>G, XM_006717212.3:c.5838A>G, XM_006717212.2:c.5838A>G, XM_006717212.1:c.5838A>G, XM_017014997.3:c.5838A>G, XM_017014997.2:c.5838A>G, XM_017014997.1:c.5838A>G, XM_017014996.3:c.5838A>G, XM_017014996.2:c.5838A>G, XM_017014996.1:c.5838A>G, XM_047423671.1:c.5838A>G, XM_047423678.1:c.5838A>G, XM_047423666.1:c.5838A>G, XM_047423674.1:c.5838A>G, XM_047423661.1:c.5838A>G, XM_047423667.1:c.5838A>G, XM_047423663.1:c.5838A>G, XM_024447629.1:c.5838A>G, XM_047423664.1:c.5838A>G, XM_047423675.1:c.5838A>G, XM_047423662.1:c.5838A>G, XM_047423677.1:c.5838A>G, XM_047423670.1:c.5838A>G, XM_047423672.1:c.5838A>G, XM_047423665.1:c.5838A>G, XM_047423673.1:c.5838A>G, XM_047423668.1:c.5838A>G, XM_047423669.1:c.5838A>G, XM_047423676.1:c.5838A>G

Select item 148021579318.

rs1480215793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:106935542 (GRCh38)
9:109697823 (GRCh37)
Canonical SPDI:: NC_000009.12:106935541:A:G
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.106935542A>G, NC_000009.11:g.109697823A>G, NG_052913.1:g.77446A>G, NM_021224.6:c.6156A>G, NM_021224.5:c.6156A>G, NM_021224.4:c.6156A>G, NM_001347997.2:c.3561A>G, NM_001347997.1:c.3561A>G, XM_006717215.5:c.6336A>G, XM_006717215.4:c.6336A>G, XM_006717215.3:c.6336A>G, XM_006717215.2:c.6336A>G, XM_006717215.1:c.6336A>G, XM_006717216.5:c.6156A>G, XM_006717216.4:c.6156A>G, XM_006717216.3:c.6156A>G, XM_006717216.2:c.6156A>G, XM_006717216.1:c.6156A>G, XM_006717211.5:c.6339A>G, XM_006717211.4:c.6339A>G, XM_006717211.3:c.6339A>G, XM_006717211.2:c.6339A>G, XM_006717211.1:c.6339A>G, XM_006717209.5:c.6339A>G, XM_006717209.4:c.6339A>G, XM_006717209.3:c.6339A>G, XM_006717209.2:c.6339A>G, XM_006717209.1:c.6339A>G, XM_006717212.5:c.6339A>G, XM_006717212.4:c.6339A>G, XM_006717212.3:c.6339A>G, XM_006717212.2:c.6339A>G, XM_006717212.1:c.6339A>G, XM_017014997.3:c.6339A>G, XM_017014997.2:c.6339A>G, XM_017014997.1:c.6339A>G, XM_017014996.3:c.6339A>G, XM_017014996.2:c.6339A>G, XM_017014996.1:c.6339A>G, XM_017014998.3:c.3561A>G, XM_017014998.2:c.3561A>G, XM_017014998.1:c.3561A>G, XM_047423671.1:c.6336A>G, XM_047423678.1:c.6156A>G, XM_047423666.1:c.6339A>G, XM_047423674.1:c.6156A>G, XM_047423661.1:c.6339A>G, XM_047423667.1:c.6339A>G, XM_047423663.1:c.6339A>G, XM_024447629.1:c.6339A>G, XM_047423664.1:c.6339A>G, XM_047423675.1:c.6156A>G, XM_047423662.1:c.6339A>G, XM_047423677.1:c.6156A>G, XM_047423670.1:c.6336A>G, XM_047423672.1:c.6156A>G, XM_047423665.1:c.6339A>G, XM_047423673.1:c.6156A>G, XM_047423668.1:c.6336A>G, XM_047423669.1:c.6336A>G, XM_047423676.1:c.6156A>G, XM_047423680.1:c.3744A>G, XM_047423685.1:c.3561A>G, XM_047423679.1:c.3744A>G, XM_047423682.1:c.3741A>G, XM_047423681.1:c.3744A>G, XM_047423683.1:c.3741A>G, XM_047423684.1:c.3561A>G

Select item 148016143519.

rs1480161435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:106924505 (GRCh38)
9:109686786 (GRCh37)
Canonical SPDI:: NC_000009.12:106924504:C:T
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.106924505C>T, NC_000009.11:g.109686786C>T, NG_052913.1:g.66409C>T, NM_021224.6:c.593C>T, NM_021224.5:c.593C>T, NM_021224.4:c.593C>T, NM_001347997.2:c.593C>T, NM_001347997.1:c.593C>T, XM_006717215.5:c.593C>T, XM_006717215.4:c.593C>T, XM_006717215.3:c.593C>T, XM_006717215.2:c.593C>T, XM_006717215.1:c.593C>T, XM_006717216.5:c.593C>T, XM_006717216.4:c.593C>T, XM_006717216.3:c.593C>T, XM_006717216.2:c.593C>T, XM_006717216.1:c.593C>T, XM_006717211.5:c.593C>T, XM_006717211.4:c.593C>T, XM_006717211.3:c.593C>T, XM_006717211.2:c.593C>T, XM_006717211.1:c.593C>T, XM_006717209.5:c.593C>T, XM_006717209.4:c.593C>T, XM_006717209.3:c.593C>T, XM_006717209.2:c.593C>T, XM_006717209.1:c.593C>T, XM_006717212.5:c.593C>T, XM_006717212.4:c.593C>T, XM_006717212.3:c.593C>T, XM_006717212.2:c.593C>T, XM_006717212.1:c.593C>T, XM_017014997.3:c.593C>T, XM_017014997.2:c.593C>T, XM_017014997.1:c.593C>T, XM_017014996.3:c.593C>T, XM_017014996.2:c.593C>T, XM_017014996.1:c.593C>T, XM_017014998.3:c.593C>T, XM_017014998.2:c.593C>T, XM_017014998.1:c.593C>T, XM_047423671.1:c.593C>T, XM_047423678.1:c.593C>T, XM_047423666.1:c.593C>T, XM_047423674.1:c.593C>T, XM_047423661.1:c.593C>T, XM_047423667.1:c.593C>T, XM_047423663.1:c.593C>T, XM_024447629.1:c.593C>T, XM_047423664.1:c.593C>T, XM_047423675.1:c.593C>T, XM_047423662.1:c.593C>T, XM_047423677.1:c.593C>T, XM_047423670.1:c.593C>T, XM_047423672.1:c.593C>T, XM_047423665.1:c.593C>T, XM_047423673.1:c.593C>T, XM_047423668.1:c.593C>T, XM_047423669.1:c.593C>T, XM_047423676.1:c.593C>T, XM_047423680.1:c.593C>T, XM_047423685.1:c.593C>T, XM_047423679.1:c.593C>T, XM_047423682.1:c.593C>T, XM_047423681.1:c.593C>T, XM_047423683.1:c.593C>T, XM_047423684.1:c.593C>T, NP_067047.4:p.Ala198Val, NP_001334926.1:p.Ala198Val, XP_006717278.1:p.Ala198Val, XP_006717279.1:p.Ala198Val, XP_006717274.1:p.Ala198Val, XP_006717272.1:p.Ala198Val, XP_006717275.1:p.Ala198Val, XP_016870486.1:p.Ala198Val, XP_016870485.1:p.Ala198Val, XP_016870487.1:p.Ala198Val, XP_047279627.1:p.Ala198Val, XP_047279634.1:p.Ala198Val, XP_047279622.1:p.Ala198Val, XP_047279630.1:p.Ala198Val, XP_047279617.1:p.Ala198Val, XP_047279623.1:p.Ala198Val, XP_047279619.1:p.Ala198Val, XP_024303397.1:p.Ala198Val, XP_047279620.1:p.Ala198Val, XP_047279631.1:p.Ala198Val, XP_047279618.1:p.Ala198Val, XP_047279633.1:p.Ala198Val, XP_047279626.1:p.Ala198Val, XP_047279628.1:p.Ala198Val, XP_047279621.1:p.Ala198Val, XP_047279629.1:p.Ala198Val, XP_047279624.1:p.Ala198Val, XP_047279625.1:p.Ala198Val, XP_047279632.1:p.Ala198Val, XP_047279636.1:p.Ala198Val, XP_047279641.1:p.Ala198Val, XP_047279635.1:p.Ala198Val, XP_047279638.1:p.Ala198Val, XP_047279637.1:p.Ala198Val, XP_047279639.1:p.Ala198Val, XP_047279640.1:p.Ala198Val

Select item 148003634720.

rs1480036347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:106926377 (GRCh38)
9:109688658 (GRCh37)
Canonical SPDI:: NC_000009.12:106926376:C:T
Gene:: ZNF462 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.106926377C>T, NC_000009.11:g.109688658C>T, NG_052913.1:g.68281C>T, NM_021224.6:c.2465C>T, NM_021224.5:c.2465C>T, NM_021224.4:c.2465C>T, NM_001347997.2:c.2465C>T, NM_001347997.1:c.2465C>T, XM_006717215.5:c.2465C>T, XM_006717215.4:c.2465C>T, XM_006717215.3:c.2465C>T, XM_006717215.2:c.2465C>T, XM_006717215.1:c.2465C>T, XM_006717216.5:c.2465C>T, XM_006717216.4:c.2465C>T, XM_006717216.3:c.2465C>T, XM_006717216.2:c.2465C>T, XM_006717216.1:c.2465C>T, XM_006717211.5:c.2465C>T, XM_006717211.4:c.2465C>T, XM_006717211.3:c.2465C>T, XM_006717211.2:c.2465C>T, XM_006717211.1:c.2465C>T, XM_006717209.5:c.2465C>T, XM_006717209.4:c.2465C>T, XM_006717209.3:c.2465C>T, XM_006717209.2:c.2465C>T, XM_006717209.1:c.2465C>T, XM_006717212.5:c.2465C>T, XM_006717212.4:c.2465C>T, XM_006717212.3:c.2465C>T, XM_006717212.2:c.2465C>T, XM_006717212.1:c.2465C>T, XM_017014997.3:c.2465C>T, XM_017014997.2:c.2465C>T, XM_017014997.1:c.2465C>T, XM_017014996.3:c.2465C>T, XM_017014996.2:c.2465C>T, XM_017014996.1:c.2465C>T, XM_017014998.3:c.2465C>T, XM_017014998.2:c.2465C>T, XM_017014998.1:c.2465C>T, XM_047423671.1:c.2465C>T, XM_047423678.1:c.2465C>T, XM_047423666.1:c.2465C>T, XM_047423674.1:c.2465C>T, XM_047423661.1:c.2465C>T, XM_047423667.1:c.2465C>T, XM_047423663.1:c.2465C>T, XM_024447629.1:c.2465C>T, XM_047423664.1:c.2465C>T, XM_047423675.1:c.2465C>T, XM_047423662.1:c.2465C>T, XM_047423677.1:c.2465C>T, XM_047423670.1:c.2465C>T, XM_047423672.1:c.2465C>T, XM_047423665.1:c.2465C>T, XM_047423673.1:c.2465C>T, XM_047423668.1:c.2465C>T, XM_047423669.1:c.2465C>T, XM_047423676.1:c.2465C>T, XM_047423680.1:c.2465C>T, XM_047423685.1:c.2465C>T, XM_047423679.1:c.2465C>T, XM_047423682.1:c.2465C>T, XM_047423681.1:c.2465C>T, XM_047423683.1:c.2465C>T, XM_047423684.1:c.2465C>T, NP_067047.4:p.Thr822Ile, NP_001334926.1:p.Thr822Ile, XP_006717278.1:p.Thr822Ile, XP_006717279.1:p.Thr822Ile, XP_006717274.1:p.Thr822Ile, XP_006717272.1:p.Thr822Ile, XP_006717275.1:p.Thr822Ile, XP_016870486.1:p.Thr822Ile, XP_016870485.1:p.Thr822Ile, XP_016870487.1:p.Thr822Ile, XP_047279627.1:p.Thr822Ile, XP_047279634.1:p.Thr822Ile, XP_047279622.1:p.Thr822Ile, XP_047279630.1:p.Thr822Ile, XP_047279617.1:p.Thr822Ile, XP_047279623.1:p.Thr822Ile, XP_047279619.1:p.Thr822Ile, XP_024303397.1:p.Thr822Ile, XP_047279620.1:p.Thr822Ile, XP_047279631.1:p.Thr822Ile, XP_047279618.1:p.Thr822Ile, XP_047279633.1:p.Thr822Ile, XP_047279626.1:p.Thr822Ile, XP_047279628.1:p.Thr822Ile, XP_047279621.1:p.Thr822Ile, XP_047279629.1:p.Thr822Ile, XP_047279624.1:p.Thr822Ile, XP_047279625.1:p.Thr822Ile, XP_047279632.1:p.Thr822Ile, XP_047279636.1:p.Thr822Ile, XP_047279641.1:p.Thr822Ile, XP_047279635.1:p.Thr822Ile, XP_047279638.1:p.Thr822Ile, XP_047279637.1:p.Thr822Ile, XP_047279639.1:p.Thr822Ile, XP_047279640.1:p.Thr822Ile

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SNP Links for Protein (Select 114431236) (2133)
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