SNP Links for Protein (Select 45387947) - SNP

Links from Protein

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Select item 14874560531.

rs1487456053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:144882445 (GRCh38)
8:146107830 (GRCh37)
Canonical SPDI:: NC_000008.11:144882444:A:C
Gene:: ZNF250 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144882445A>C, NC_000008.10:g.146107830A>C, NM_021061.5:c.753T>G, NM_021061.4:c.753T>G, NM_001109689.4:c.738T>G, NM_001109689.3:c.738T>G, NM_001363099.2:c.753T>G, NM_001363099.1:c.753T>G, NM_001363100.2:c.738T>G, NM_001363100.1:c.738T>G, NM_001363105.2:c.675T>G, NM_001363105.1:c.675T>G, NM_001363103.2:c.738T>G, NM_001363103.1:c.738T>G, NM_001363102.2:c.738T>G, NM_001363102.1:c.738T>G, NM_001363098.2:c.753T>G, NM_001363098.1:c.753T>G, NM_001363101.2:c.738T>G, NM_001363101.1:c.738T>G, NM_001363107.2:c.675T>G, NM_001363107.1:c.675T>G, NM_001363104.2:c.690T>G, NM_001363104.1:c.690T>G, NM_001363106.2:c.675T>G, NM_001363106.1:c.675T>G, XM_047422064.1:c.753T>G, XM_047422065.1:c.675T>G

Select item 14871419932.

rs1487141993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144882295 (GRCh38)
8:146107680 (GRCh37)
Canonical SPDI:: NC_000008.11:144882294:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144882295G>A, NC_000008.10:g.146107680G>A, NM_021061.5:c.903C>T, NM_021061.4:c.903C>T, NM_001109689.4:c.888C>T, NM_001109689.3:c.888C>T, NM_001363099.2:c.903C>T, NM_001363099.1:c.903C>T, NM_001363100.2:c.888C>T, NM_001363100.1:c.888C>T, NM_001363105.2:c.825C>T, NM_001363105.1:c.825C>T, NM_001363103.2:c.888C>T, NM_001363103.1:c.888C>T, NM_001363102.2:c.888C>T, NM_001363102.1:c.888C>T, NM_001363098.2:c.903C>T, NM_001363098.1:c.903C>T, NM_001363101.2:c.888C>T, NM_001363101.1:c.888C>T, NM_001363107.2:c.825C>T, NM_001363107.1:c.825C>T, NM_001363104.2:c.840C>T, NM_001363104.1:c.840C>T, NM_001363106.2:c.825C>T, NM_001363106.1:c.825C>T, XM_047422064.1:c.903C>T, XM_047422065.1:c.825C>T

Select item 14870508163.

rs1487050816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:144882215 (GRCh38)
8:146107600 (GRCh37)
Canonical SPDI:: NC_000008.11:144882214:C:A
Gene:: ZNF250 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144882215C>A, NC_000008.10:g.146107600C>A, NM_021061.5:c.983G>T, NM_021061.4:c.983G>T, NM_001109689.4:c.968G>T, NM_001109689.3:c.968G>T, NM_001363099.2:c.983G>T, NM_001363099.1:c.983G>T, NM_001363100.2:c.968G>T, NM_001363100.1:c.968G>T, NM_001363105.2:c.905G>T, NM_001363105.1:c.905G>T, NM_001363103.2:c.968G>T, NM_001363103.1:c.968G>T, NM_001363102.2:c.968G>T, NM_001363102.1:c.968G>T, NM_001363098.2:c.983G>T, NM_001363098.1:c.983G>T, NM_001363101.2:c.968G>T, NM_001363101.1:c.968G>T, NM_001363107.2:c.905G>T, NM_001363107.1:c.905G>T, NM_001363104.2:c.920G>T, NM_001363104.1:c.920G>T, NM_001363106.2:c.905G>T, NM_001363106.1:c.905G>T, XM_047422064.1:c.983G>T, XM_047422065.1:c.905G>T, NP_066405.1:p.Ser328Ile, NP_001103159.1:p.Ser323Ile, NP_001350028.1:p.Ser328Ile, NP_001350029.1:p.Ser323Ile, NP_001350034.1:p.Ser302Ile, NP_001350032.1:p.Ser323Ile, NP_001350031.1:p.Ser323Ile, NP_001350027.1:p.Ser328Ile, NP_001350030.1:p.Ser323Ile, NP_001350036.1:p.Ser302Ile, NP_001350033.1:p.Ser307Ile, NP_001350035.1:p.Ser302Ile, XP_047278020.1:p.Ser328Ile, XP_047278021.1:p.Ser302Ile

Select item 14830900354.

rs1483090035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144882164 (GRCh38)
8:146107549 (GRCh37)
Canonical SPDI:: NC_000008.11:144882163:C:T
Gene:: ZNF250 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144882164C>T, NC_000008.10:g.146107549C>T, NM_021061.5:c.1034G>A, NM_021061.4:c.1034G>A, NM_001109689.4:c.1019G>A, NM_001109689.3:c.1019G>A, NM_001363099.2:c.1034G>A, NM_001363099.1:c.1034G>A, NM_001363100.2:c.1019G>A, NM_001363100.1:c.1019G>A, NM_001363105.2:c.956G>A, NM_001363105.1:c.956G>A, NM_001363103.2:c.1019G>A, NM_001363103.1:c.1019G>A, NM_001363102.2:c.1019G>A, NM_001363102.1:c.1019G>A, NM_001363098.2:c.1034G>A, NM_001363098.1:c.1034G>A, NM_001363101.2:c.1019G>A, NM_001363101.1:c.1019G>A, NM_001363107.2:c.956G>A, NM_001363107.1:c.956G>A, NM_001363104.2:c.971G>A, NM_001363104.1:c.971G>A, NM_001363106.2:c.956G>A, NM_001363106.1:c.956G>A, XM_047422064.1:c.1034G>A, XM_047422065.1:c.956G>A, NP_066405.1:p.Gly345Glu, NP_001103159.1:p.Gly340Glu, NP_001350028.1:p.Gly345Glu, NP_001350029.1:p.Gly340Glu, NP_001350034.1:p.Gly319Glu, NP_001350032.1:p.Gly340Glu, NP_001350031.1:p.Gly340Glu, NP_001350027.1:p.Gly345Glu, NP_001350030.1:p.Gly340Glu, NP_001350036.1:p.Gly319Glu, NP_001350033.1:p.Gly324Glu, NP_001350035.1:p.Gly319Glu, XP_047278020.1:p.Gly345Glu, XP_047278021.1:p.Gly319Glu

Select item 14824403815.

rs1482440381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144882234 (GRCh38)
8:146107619 (GRCh37)
Canonical SPDI:: NC_000008.11:144882233:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144882234G>A, NC_000008.10:g.146107619G>A, NM_021061.5:c.964C>T, NM_021061.4:c.964C>T, NM_001109689.4:c.949C>T, NM_001109689.3:c.949C>T, NM_001363099.2:c.964C>T, NM_001363099.1:c.964C>T, NM_001363100.2:c.949C>T, NM_001363100.1:c.949C>T, NM_001363105.2:c.886C>T, NM_001363105.1:c.886C>T, NM_001363103.2:c.949C>T, NM_001363103.1:c.949C>T, NM_001363102.2:c.949C>T, NM_001363102.1:c.949C>T, NM_001363098.2:c.964C>T, NM_001363098.1:c.964C>T, NM_001363101.2:c.949C>T, NM_001363101.1:c.949C>T, NM_001363107.2:c.886C>T, NM_001363107.1:c.886C>T, NM_001363104.2:c.901C>T, NM_001363104.1:c.901C>T, NM_001363106.2:c.886C>T, NM_001363106.1:c.886C>T, XM_047422064.1:c.964C>T, XM_047422065.1:c.886C>T, NP_066405.1:p.His322Tyr, NP_001103159.1:p.His317Tyr, NP_001350028.1:p.His322Tyr, NP_001350029.1:p.His317Tyr, NP_001350034.1:p.His296Tyr, NP_001350032.1:p.His317Tyr, NP_001350031.1:p.His317Tyr, NP_001350027.1:p.His322Tyr, NP_001350030.1:p.His317Tyr, NP_001350036.1:p.His296Tyr, NP_001350033.1:p.His301Tyr, NP_001350035.1:p.His296Tyr, XP_047278020.1:p.His322Tyr, XP_047278021.1:p.His296Tyr

Select item 14759657426.

rs1475965742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:144881926 (GRCh38)
8:146107311 (GRCh37)
Canonical SPDI:: NC_000008.11:144881925:T:C
Gene:: ZNF250 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144881926T>C, NC_000008.10:g.146107311T>C, NM_021061.5:c.1272A>G, NM_021061.4:c.1272A>G, NM_001109689.4:c.1257A>G, NM_001109689.3:c.1257A>G, NM_001363099.2:c.1272A>G, NM_001363099.1:c.1272A>G, NM_001363100.2:c.1257A>G, NM_001363100.1:c.1257A>G, NM_001363105.2:c.1194A>G, NM_001363105.1:c.1194A>G, NM_001363103.2:c.1257A>G, NM_001363103.1:c.1257A>G, NM_001363102.2:c.1257A>G, NM_001363102.1:c.1257A>G, NM_001363098.2:c.1272A>G, NM_001363098.1:c.1272A>G, NM_001363101.2:c.1257A>G, NM_001363101.1:c.1257A>G, NM_001363107.2:c.1194A>G, NM_001363107.1:c.1194A>G, NM_001363104.2:c.1209A>G, NM_001363104.1:c.1209A>G, NM_001363106.2:c.1194A>G, NM_001363106.1:c.1194A>G, XM_047422064.1:c.1272A>G, XM_047422065.1:c.1194A>G

Select item 14758609807.

rs1475860980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144882543 (GRCh38)
8:146107928 (GRCh37)
Canonical SPDI:: NC_000008.11:144882542:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144882543G>A, NC_000008.10:g.146107928G>A, NM_021061.5:c.655C>T, NM_021061.4:c.655C>T, NM_001109689.4:c.640C>T, NM_001109689.3:c.640C>T, NM_001363099.2:c.655C>T, NM_001363099.1:c.655C>T, NM_001363100.2:c.640C>T, NM_001363100.1:c.640C>T, NM_001363105.2:c.577C>T, NM_001363105.1:c.577C>T, NM_001363103.2:c.640C>T, NM_001363103.1:c.640C>T, NM_001363102.2:c.640C>T, NM_001363102.1:c.640C>T, NM_001363098.2:c.655C>T, NM_001363098.1:c.655C>T, NM_001363101.2:c.640C>T, NM_001363101.1:c.640C>T, NM_001363107.2:c.577C>T, NM_001363107.1:c.577C>T, NM_001363104.2:c.592C>T, NM_001363104.1:c.592C>T, NM_001363106.2:c.577C>T, NM_001363106.1:c.577C>T, XM_047422064.1:c.655C>T, XM_047422065.1:c.577C>T, NP_066405.1:p.Arg219Cys, NP_001103159.1:p.Arg214Cys, NP_001350028.1:p.Arg219Cys, NP_001350029.1:p.Arg214Cys, NP_001350034.1:p.Arg193Cys, NP_001350032.1:p.Arg214Cys, NP_001350031.1:p.Arg214Cys, NP_001350027.1:p.Arg219Cys, NP_001350030.1:p.Arg214Cys, NP_001350036.1:p.Arg193Cys, NP_001350033.1:p.Arg198Cys, NP_001350035.1:p.Arg193Cys, XP_047278020.1:p.Arg219Cys, XP_047278021.1:p.Arg193Cys

Select item 14732538638.

rs1473253863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144882633 (GRCh38)
8:146108018 (GRCh37)
Canonical SPDI:: NC_000008.11:144882632:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144882633G>A, NC_000008.10:g.146108018G>A, NM_021061.5:c.565C>T, NM_021061.4:c.565C>T, NM_001109689.4:c.550C>T, NM_001109689.3:c.550C>T, NM_001363099.2:c.565C>T, NM_001363099.1:c.565C>T, NM_001363100.2:c.550C>T, NM_001363100.1:c.550C>T, NM_001363105.2:c.487C>T, NM_001363105.1:c.487C>T, NM_001363103.2:c.550C>T, NM_001363103.1:c.550C>T, NM_001363102.2:c.550C>T, NM_001363102.1:c.550C>T, NM_001363098.2:c.565C>T, NM_001363098.1:c.565C>T, NM_001363101.2:c.550C>T, NM_001363101.1:c.550C>T, NM_001363107.2:c.487C>T, NM_001363107.1:c.487C>T, NM_001363104.2:c.502C>T, NM_001363104.1:c.502C>T, NM_001363106.2:c.487C>T, NM_001363106.1:c.487C>T, XM_047422064.1:c.565C>T, XM_047422065.1:c.487C>T, NP_066405.1:p.His189Tyr, NP_001103159.1:p.His184Tyr, NP_001350028.1:p.His189Tyr, NP_001350029.1:p.His184Tyr, NP_001350034.1:p.His163Tyr, NP_001350032.1:p.His184Tyr, NP_001350031.1:p.His184Tyr, NP_001350027.1:p.His189Tyr, NP_001350030.1:p.His184Tyr, NP_001350036.1:p.His163Tyr, NP_001350033.1:p.His168Tyr, NP_001350035.1:p.His163Tyr, XP_047278020.1:p.His189Tyr, XP_047278021.1:p.His163Tyr

Select item 14718907819.

rs1471890781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144882706 (GRCh38)
8:146108091 (GRCh37)
Canonical SPDI:: NC_000008.11:144882705:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144882706G>A, NC_000008.10:g.146108091G>A, NM_021061.5:c.492C>T, NM_021061.4:c.492C>T, NM_001109689.4:c.477C>T, NM_001109689.3:c.477C>T, NM_001363099.2:c.492C>T, NM_001363099.1:c.492C>T, NM_001363100.2:c.477C>T, NM_001363100.1:c.477C>T, NM_001363105.2:c.414C>T, NM_001363105.1:c.414C>T, NM_001363103.2:c.477C>T, NM_001363103.1:c.477C>T, NM_001363102.2:c.477C>T, NM_001363102.1:c.477C>T, NM_001363098.2:c.492C>T, NM_001363098.1:c.492C>T, NM_001363101.2:c.477C>T, NM_001363101.1:c.477C>T, NM_001363107.2:c.414C>T, NM_001363107.1:c.414C>T, NM_001363104.2:c.429C>T, NM_001363104.1:c.429C>T, NM_001363106.2:c.414C>T, NM_001363106.1:c.414C>T, XM_047422064.1:c.492C>T, XM_047422065.1:c.414C>T

Select item 146369677710.

rs1463696777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144881811 (GRCh38)
8:146107196 (GRCh37)
Canonical SPDI:: NC_000008.11:144881810:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.144881811G>A, NC_000008.10:g.146107196G>A, NM_021061.5:c.1387C>T, NM_021061.4:c.1387C>T, NM_001109689.4:c.1372C>T, NM_001109689.3:c.1372C>T, NM_001363099.2:c.1387C>T, NM_001363099.1:c.1387C>T, NM_001363100.2:c.1372C>T, NM_001363100.1:c.1372C>T, NM_001363105.2:c.1309C>T, NM_001363105.1:c.1309C>T, NM_001363103.2:c.1372C>T, NM_001363103.1:c.1372C>T, NM_001363102.2:c.1372C>T, NM_001363102.1:c.1372C>T, NM_001363098.2:c.1387C>T, NM_001363098.1:c.1387C>T, NM_001363101.2:c.1372C>T, NM_001363101.1:c.1372C>T, NM_001363107.2:c.1309C>T, NM_001363107.1:c.1309C>T, NM_001363104.2:c.1324C>T, NM_001363104.1:c.1324C>T, NM_001363106.2:c.1309C>T, NM_001363106.1:c.1309C>T, XM_047422064.1:c.1387C>T, XM_047422065.1:c.1309C>T, NP_066405.1:p.Arg463Cys, NP_001103159.1:p.Arg458Cys, NP_001350028.1:p.Arg463Cys, NP_001350029.1:p.Arg458Cys, NP_001350034.1:p.Arg437Cys, NP_001350032.1:p.Arg458Cys, NP_001350031.1:p.Arg458Cys, NP_001350027.1:p.Arg463Cys, NP_001350030.1:p.Arg458Cys, NP_001350036.1:p.Arg437Cys, NP_001350033.1:p.Arg442Cys, NP_001350035.1:p.Arg437Cys, XP_047278020.1:p.Arg463Cys, XP_047278021.1:p.Arg437Cys

Select item 145928143911.

rs1459281439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:144882495 (GRCh38)
8:146107880 (GRCh37)
Canonical SPDI:: NC_000008.11:144882494:C:A,NC_000008.11:144882494:C:T
Gene:: ZNF250 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144882495C>A, NC_000008.11:g.144882495C>T, NC_000008.10:g.146107880C>A, NC_000008.10:g.146107880C>T, NM_021061.5:c.703G>T, NM_021061.5:c.703G>A, NM_021061.4:c.703G>T, NM_021061.4:c.703G>A, NM_001109689.4:c.688G>T, NM_001109689.4:c.688G>A, NM_001109689.3:c.688G>T, NM_001109689.3:c.688G>A, NM_001363099.2:c.703G>T, NM_001363099.2:c.703G>A, NM_001363099.1:c.703G>T, NM_001363099.1:c.703G>A, NM_001363100.2:c.688G>T, NM_001363100.2:c.688G>A, NM_001363100.1:c.688G>T, NM_001363100.1:c.688G>A, NM_001363105.2:c.625G>T, NM_001363105.2:c.625G>A, NM_001363105.1:c.625G>T, NM_001363105.1:c.625G>A, NM_001363103.2:c.688G>T, NM_001363103.2:c.688G>A, NM_001363103.1:c.688G>T, NM_001363103.1:c.688G>A, NM_001363102.2:c.688G>T, NM_001363102.2:c.688G>A, NM_001363102.1:c.688G>T, NM_001363102.1:c.688G>A, NM_001363098.2:c.703G>T, NM_001363098.2:c.703G>A, NM_001363098.1:c.703G>T, NM_001363098.1:c.703G>A, NM_001363101.2:c.688G>T, NM_001363101.2:c.688G>A, NM_001363101.1:c.688G>T, NM_001363101.1:c.688G>A, NM_001363107.2:c.625G>T, NM_001363107.2:c.625G>A, NM_001363107.1:c.625G>T, NM_001363107.1:c.625G>A, NM_001363104.2:c.640G>T, NM_001363104.2:c.640G>A, NM_001363104.1:c.640G>T, NM_001363104.1:c.640G>A, NM_001363106.2:c.625G>T, NM_001363106.2:c.625G>A, NM_001363106.1:c.625G>T, NM_001363106.1:c.625G>A, XM_047422064.1:c.703G>T, XM_047422064.1:c.703G>A, XM_047422065.1:c.625G>T, XM_047422065.1:c.625G>A, NP_066405.1:p.Ala235Ser, NP_066405.1:p.Ala235Thr, NP_001103159.1:p.Ala230Ser, NP_001103159.1:p.Ala230Thr, NP_001350028.1:p.Ala235Ser, NP_001350028.1:p.Ala235Thr, NP_001350029.1:p.Ala230Ser, NP_001350029.1:p.Ala230Thr, NP_001350034.1:p.Ala209Ser, NP_001350034.1:p.Ala209Thr, NP_001350032.1:p.Ala230Ser, NP_001350032.1:p.Ala230Thr, NP_001350031.1:p.Ala230Ser, NP_001350031.1:p.Ala230Thr, NP_001350027.1:p.Ala235Ser, NP_001350027.1:p.Ala235Thr, NP_001350030.1:p.Ala230Ser, NP_001350030.1:p.Ala230Thr, NP_001350036.1:p.Ala209Ser, NP_001350036.1:p.Ala209Thr, NP_001350033.1:p.Ala214Ser, NP_001350033.1:p.Ala214Thr, NP_001350035.1:p.Ala209Ser, NP_001350035.1:p.Ala209Thr, XP_047278020.1:p.Ala235Ser, XP_047278020.1:p.Ala235Thr, XP_047278021.1:p.Ala209Ser, XP_047278021.1:p.Ala209Thr

Select item 145796097212.

rs1457960972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144890333 (GRCh38)
8:146115718 (GRCh37)
Canonical SPDI:: NC_000008.11:144890332:A:G
Gene:: ZNF250 (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)
G=0.003821/7 (Korea1K)
HGVS:: NC_000008.11:g.144890333A>G, NC_000008.10:g.146115718A>G, NM_021061.5:c.17T>C, NM_021061.4:c.17T>C, NM_001109689.4:c.17T>C, NM_001109689.3:c.17T>C, NM_001363099.2:c.17T>C, NM_001363099.1:c.17T>C, NM_001363100.2:c.17T>C, NM_001363100.1:c.17T>C, NM_001363105.2:c.17T>C, NM_001363105.1:c.17T>C, NM_001363103.2:c.17T>C, NM_001363103.1:c.17T>C, NM_001363102.2:c.17T>C, NM_001363102.1:c.17T>C, NM_001363098.2:c.17T>C, NM_001363098.1:c.17T>C, NM_001363101.2:c.17T>C, NM_001363101.1:c.17T>C, NM_001363107.2:c.17T>C, NM_001363107.1:c.17T>C, NM_001363104.2:c.17T>C, NM_001363104.1:c.17T>C, NM_001363106.2:c.17T>C, NM_001363106.1:c.17T>C, XM_047422064.1:c.17T>C, XM_047422065.1:c.17T>C, NP_066405.1:p.Leu6Pro, NP_001103159.1:p.Leu6Pro, NP_001350028.1:p.Leu6Pro, NP_001350029.1:p.Leu6Pro, NP_001350034.1:p.Leu6Pro, NP_001350032.1:p.Leu6Pro, NP_001350031.1:p.Leu6Pro, NP_001350027.1:p.Leu6Pro, NP_001350030.1:p.Leu6Pro, NP_001350036.1:p.Leu6Pro, NP_001350033.1:p.Leu6Pro, NP_001350035.1:p.Leu6Pro, XP_047278020.1:p.Leu6Pro, XP_047278021.1:p.Leu6Pro

Select item 145630269213.

rs1456302692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:144882137 (GRCh38)
8:146107522 (GRCh37)
Canonical SPDI:: NC_000008.11:144882136:A:T
Gene:: ZNF250 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144882137A>T, NC_000008.10:g.146107522A>T, NM_021061.5:c.1061T>A, NM_021061.4:c.1061T>A, NM_001109689.4:c.1046T>A, NM_001109689.3:c.1046T>A, NM_001363099.2:c.1061T>A, NM_001363099.1:c.1061T>A, NM_001363100.2:c.1046T>A, NM_001363100.1:c.1046T>A, NM_001363105.2:c.983T>A, NM_001363105.1:c.983T>A, NM_001363103.2:c.1046T>A, NM_001363103.1:c.1046T>A, NM_001363102.2:c.1046T>A, NM_001363102.1:c.1046T>A, NM_001363098.2:c.1061T>A, NM_001363098.1:c.1061T>A, NM_001363101.2:c.1046T>A, NM_001363101.1:c.1046T>A, NM_001363107.2:c.983T>A, NM_001363107.1:c.983T>A, NM_001363104.2:c.998T>A, NM_001363104.1:c.998T>A, NM_001363106.2:c.983T>A, NM_001363106.1:c.983T>A, XM_047422064.1:c.1061T>A, XM_047422065.1:c.983T>A, NP_066405.1:p.Leu354Gln, NP_001103159.1:p.Leu349Gln, NP_001350028.1:p.Leu354Gln, NP_001350029.1:p.Leu349Gln, NP_001350034.1:p.Leu328Gln, NP_001350032.1:p.Leu349Gln, NP_001350031.1:p.Leu349Gln, NP_001350027.1:p.Leu354Gln, NP_001350030.1:p.Leu349Gln, NP_001350036.1:p.Leu328Gln, NP_001350033.1:p.Leu333Gln, NP_001350035.1:p.Leu328Gln, XP_047278020.1:p.Leu354Gln, XP_047278021.1:p.Leu328Gln

Select item 145610162214.

rs1456101622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:144881625 (GRCh38)
8:146107010 (GRCh37)
Canonical SPDI:: NC_000008.11:144881624:G:T
Gene:: ZNF250 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144881625G>T, NC_000008.10:g.146107010G>T, NM_021061.5:c.1573C>A, NM_021061.4:c.1573C>A, NM_001109689.4:c.1558C>A, NM_001109689.3:c.1558C>A, NM_001363099.2:c.1573C>A, NM_001363099.1:c.1573C>A, NM_001363100.2:c.1558C>A, NM_001363100.1:c.1558C>A, NM_001363105.2:c.1495C>A, NM_001363105.1:c.1495C>A, NM_001363103.2:c.1558C>A, NM_001363103.1:c.1558C>A, NM_001363102.2:c.1558C>A, NM_001363102.1:c.1558C>A, NM_001363098.2:c.1573C>A, NM_001363098.1:c.1573C>A, NM_001363101.2:c.1558C>A, NM_001363101.1:c.1558C>A, NM_001363107.2:c.1495C>A, NM_001363107.1:c.1495C>A, NM_001363104.2:c.1510C>A, NM_001363104.1:c.1510C>A, NM_001363106.2:c.1495C>A, NM_001363106.1:c.1495C>A, XM_047422064.1:c.1573C>A, XM_047422065.1:c.1495C>A, NP_066405.1:p.His525Asn, NP_001103159.1:p.His520Asn, NP_001350028.1:p.His525Asn, NP_001350029.1:p.His520Asn, NP_001350034.1:p.His499Asn, NP_001350032.1:p.His520Asn, NP_001350031.1:p.His520Asn, NP_001350027.1:p.His525Asn, NP_001350030.1:p.His520Asn, NP_001350036.1:p.His499Asn, NP_001350033.1:p.His504Asn, NP_001350035.1:p.His499Asn, XP_047278020.1:p.His525Asn, XP_047278021.1:p.His499Asn

Select item 145601571815.

rs1456015718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:144882642 (GRCh38)
8:146108027 (GRCh37)
Canonical SPDI:: NC_000008.11:144882641:G:A,NC_000008.11:144882641:G:C
Gene:: ZNF250 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000162/3 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
C=0.00067/3 (Estonian)
HGVS:: NC_000008.11:g.144882642G>A, NC_000008.11:g.144882642G>C, NC_000008.10:g.146108027G>A, NC_000008.10:g.146108027G>C, NM_021061.5:c.556C>T, NM_021061.5:c.556C>G, NM_021061.4:c.556C>T, NM_021061.4:c.556C>G, NM_001109689.4:c.541C>T, NM_001109689.4:c.541C>G, NM_001109689.3:c.541C>T, NM_001109689.3:c.541C>G, NM_001363099.2:c.556C>T, NM_001363099.2:c.556C>G, NM_001363099.1:c.556C>T, NM_001363099.1:c.556C>G, NM_001363100.2:c.541C>T, NM_001363100.2:c.541C>G, NM_001363100.1:c.541C>T, NM_001363100.1:c.541C>G, NM_001363105.2:c.478C>T, NM_001363105.2:c.478C>G, NM_001363105.1:c.478C>T, NM_001363105.1:c.478C>G, NM_001363103.2:c.541C>T, NM_001363103.2:c.541C>G, NM_001363103.1:c.541C>T, NM_001363103.1:c.541C>G, NM_001363102.2:c.541C>T, NM_001363102.2:c.541C>G, NM_001363102.1:c.541C>T, NM_001363102.1:c.541C>G, NM_001363098.2:c.556C>T, NM_001363098.2:c.556C>G, NM_001363098.1:c.556C>T, NM_001363098.1:c.556C>G, NM_001363101.2:c.541C>T, NM_001363101.2:c.541C>G, NM_001363101.1:c.541C>T, NM_001363101.1:c.541C>G, NM_001363107.2:c.478C>T, NM_001363107.2:c.478C>G, NM_001363107.1:c.478C>T, NM_001363107.1:c.478C>G, NM_001363104.2:c.493C>T, NM_001363104.2:c.493C>G, NM_001363104.1:c.493C>T, NM_001363104.1:c.493C>G, NM_001363106.2:c.478C>T, NM_001363106.2:c.478C>G, NM_001363106.1:c.478C>T, NM_001363106.1:c.478C>G, XM_047422064.1:c.556C>T, XM_047422064.1:c.556C>G, XM_047422065.1:c.478C>T, XM_047422065.1:c.478C>G, NP_066405.1:p.Leu186Phe, NP_066405.1:p.Leu186Val, NP_001103159.1:p.Leu181Phe, NP_001103159.1:p.Leu181Val, NP_001350028.1:p.Leu186Phe, NP_001350028.1:p.Leu186Val, NP_001350029.1:p.Leu181Phe, NP_001350029.1:p.Leu181Val, NP_001350034.1:p.Leu160Phe, NP_001350034.1:p.Leu160Val, NP_001350032.1:p.Leu181Phe, NP_001350032.1:p.Leu181Val, NP_001350031.1:p.Leu181Phe, NP_001350031.1:p.Leu181Val, NP_001350027.1:p.Leu186Phe, NP_001350027.1:p.Leu186Val, NP_001350030.1:p.Leu181Phe, NP_001350030.1:p.Leu181Val, NP_001350036.1:p.Leu160Phe, NP_001350036.1:p.Leu160Val, NP_001350033.1:p.Leu165Phe, NP_001350033.1:p.Leu165Val, NP_001350035.1:p.Leu160Phe, NP_001350035.1:p.Leu160Val, XP_047278020.1:p.Leu186Phe, XP_047278020.1:p.Leu186Val, XP_047278021.1:p.Leu160Phe, XP_047278021.1:p.Leu160Val

Select item 145530061616.

rs1455300616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144882521 (GRCh38)
8:146107906 (GRCh37)
Canonical SPDI:: NC_000008.11:144882520:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144882521G>A, NC_000008.10:g.146107906G>A, NM_021061.5:c.677C>T, NM_021061.4:c.677C>T, NM_001109689.4:c.662C>T, NM_001109689.3:c.662C>T, NM_001363099.2:c.677C>T, NM_001363099.1:c.677C>T, NM_001363100.2:c.662C>T, NM_001363100.1:c.662C>T, NM_001363105.2:c.599C>T, NM_001363105.1:c.599C>T, NM_001363103.2:c.662C>T, NM_001363103.1:c.662C>T, NM_001363102.2:c.662C>T, NM_001363102.1:c.662C>T, NM_001363098.2:c.677C>T, NM_001363098.1:c.677C>T, NM_001363101.2:c.662C>T, NM_001363101.1:c.662C>T, NM_001363107.2:c.599C>T, NM_001363107.1:c.599C>T, NM_001363104.2:c.614C>T, NM_001363104.1:c.614C>T, NM_001363106.2:c.599C>T, NM_001363106.1:c.599C>T, XM_047422064.1:c.677C>T, XM_047422065.1:c.599C>T, NP_066405.1:p.Pro226Leu, NP_001103159.1:p.Pro221Leu, NP_001350028.1:p.Pro226Leu, NP_001350029.1:p.Pro221Leu, NP_001350034.1:p.Pro200Leu, NP_001350032.1:p.Pro221Leu, NP_001350031.1:p.Pro221Leu, NP_001350027.1:p.Pro226Leu, NP_001350030.1:p.Pro221Leu, NP_001350036.1:p.Pro200Leu, NP_001350033.1:p.Pro205Leu, NP_001350035.1:p.Pro200Leu, XP_047278020.1:p.Pro226Leu, XP_047278021.1:p.Pro200Leu

Select item 145433133917.

rs1454331339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144882070 (GRCh38)
8:146107455 (GRCh37)
Canonical SPDI:: NC_000008.11:144882069:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144882070G>A, NC_000008.10:g.146107455G>A, NM_021061.5:c.1128C>T, NM_021061.4:c.1128C>T, NM_001109689.4:c.1113C>T, NM_001109689.3:c.1113C>T, NM_001363099.2:c.1128C>T, NM_001363099.1:c.1128C>T, NM_001363100.2:c.1113C>T, NM_001363100.1:c.1113C>T, NM_001363105.2:c.1050C>T, NM_001363105.1:c.1050C>T, NM_001363103.2:c.1113C>T, NM_001363103.1:c.1113C>T, NM_001363102.2:c.1113C>T, NM_001363102.1:c.1113C>T, NM_001363098.2:c.1128C>T, NM_001363098.1:c.1128C>T, NM_001363101.2:c.1113C>T, NM_001363101.1:c.1113C>T, NM_001363107.2:c.1050C>T, NM_001363107.1:c.1050C>T, NM_001363104.2:c.1065C>T, NM_001363104.1:c.1065C>T, NM_001363106.2:c.1050C>T, NM_001363106.1:c.1050C>T, XM_047422064.1:c.1128C>T, XM_047422065.1:c.1050C>T

Select item 145288405618.

rs1452884056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:144882600 (GRCh38)
8:146107985 (GRCh37)
Canonical SPDI:: NC_000008.11:144882599:T:C,NC_000008.11:144882599:T:G
Gene:: ZNF250 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.144882600T>C, NC_000008.11:g.144882600T>G, NC_000008.10:g.146107985T>C, NC_000008.10:g.146107985T>G, NM_021061.5:c.598A>G, NM_021061.5:c.598A>C, NM_021061.4:c.598A>G, NM_021061.4:c.598A>C, NM_001109689.4:c.583A>G, NM_001109689.4:c.583A>C, NM_001109689.3:c.583A>G, NM_001109689.3:c.583A>C, NM_001363099.2:c.598A>G, NM_001363099.2:c.598A>C, NM_001363099.1:c.598A>G, NM_001363099.1:c.598A>C, NM_001363100.2:c.583A>G, NM_001363100.2:c.583A>C, NM_001363100.1:c.583A>G, NM_001363100.1:c.583A>C, NM_001363105.2:c.520A>G, NM_001363105.2:c.520A>C, NM_001363105.1:c.520A>G, NM_001363105.1:c.520A>C, NM_001363103.2:c.583A>G, NM_001363103.2:c.583A>C, NM_001363103.1:c.583A>G, NM_001363103.1:c.583A>C, NM_001363102.2:c.583A>G, NM_001363102.2:c.583A>C, NM_001363102.1:c.583A>G, NM_001363102.1:c.583A>C, NM_001363098.2:c.598A>G, NM_001363098.2:c.598A>C, NM_001363098.1:c.598A>G, NM_001363098.1:c.598A>C, NM_001363101.2:c.583A>G, NM_001363101.2:c.583A>C, NM_001363101.1:c.583A>G, NM_001363101.1:c.583A>C, NM_001363107.2:c.520A>G, NM_001363107.2:c.520A>C, NM_001363107.1:c.520A>G, NM_001363107.1:c.520A>C, NM_001363104.2:c.535A>G, NM_001363104.2:c.535A>C, NM_001363104.1:c.535A>G, NM_001363104.1:c.535A>C, NM_001363106.2:c.520A>G, NM_001363106.2:c.520A>C, NM_001363106.1:c.520A>G, NM_001363106.1:c.520A>C, XM_047422064.1:c.598A>G, XM_047422064.1:c.598A>C, XM_047422065.1:c.520A>G, XM_047422065.1:c.520A>C, NP_066405.1:p.Met200Val, NP_066405.1:p.Met200Leu, NP_001103159.1:p.Met195Val, NP_001103159.1:p.Met195Leu, NP_001350028.1:p.Met200Val, NP_001350028.1:p.Met200Leu, NP_001350029.1:p.Met195Val, NP_001350029.1:p.Met195Leu, NP_001350034.1:p.Met174Val, NP_001350034.1:p.Met174Leu, NP_001350032.1:p.Met195Val, NP_001350032.1:p.Met195Leu, NP_001350031.1:p.Met195Val, NP_001350031.1:p.Met195Leu, NP_001350027.1:p.Met200Val, NP_001350027.1:p.Met200Leu, NP_001350030.1:p.Met195Val, NP_001350030.1:p.Met195Leu, NP_001350036.1:p.Met174Val, NP_001350036.1:p.Met174Leu, NP_001350033.1:p.Met179Val, NP_001350033.1:p.Met179Leu, NP_001350035.1:p.Met174Val, NP_001350035.1:p.Met174Leu, XP_047278020.1:p.Met200Val, XP_047278020.1:p.Met200Leu, XP_047278021.1:p.Met174Val, XP_047278021.1:p.Met174Leu

Select item 145046771719.

rs1450467717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:144881902 (GRCh38)
8:146107287 (GRCh37)
Canonical SPDI:: NC_000008.11:144881901:G:A,NC_000008.11:144881901:G:T
Gene:: ZNF250 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000008.11:g.144881902G>A, NC_000008.11:g.144881902G>T, NC_000008.10:g.146107287G>A, NC_000008.10:g.146107287G>T, NM_021061.5:c.1296C>T, NM_021061.5:c.1296C>A, NM_021061.4:c.1296C>T, NM_021061.4:c.1296C>A, NM_001109689.4:c.1281C>T, NM_001109689.4:c.1281C>A, NM_001109689.3:c.1281C>T, NM_001109689.3:c.1281C>A, NM_001363099.2:c.1296C>T, NM_001363099.2:c.1296C>A, NM_001363099.1:c.1296C>T, NM_001363099.1:c.1296C>A, NM_001363100.2:c.1281C>T, NM_001363100.2:c.1281C>A, NM_001363100.1:c.1281C>T, NM_001363100.1:c.1281C>A, NM_001363105.2:c.1218C>T, NM_001363105.2:c.1218C>A, NM_001363105.1:c.1218C>T, NM_001363105.1:c.1218C>A, NM_001363103.2:c.1281C>T, NM_001363103.2:c.1281C>A, NM_001363103.1:c.1281C>T, NM_001363103.1:c.1281C>A, NM_001363102.2:c.1281C>T, NM_001363102.2:c.1281C>A, NM_001363102.1:c.1281C>T, NM_001363102.1:c.1281C>A, NM_001363098.2:c.1296C>T, NM_001363098.2:c.1296C>A, NM_001363098.1:c.1296C>T, NM_001363098.1:c.1296C>A, NM_001363101.2:c.1281C>T, NM_001363101.2:c.1281C>A, NM_001363101.1:c.1281C>T, NM_001363101.1:c.1281C>A, NM_001363107.2:c.1218C>T, NM_001363107.2:c.1218C>A, NM_001363107.1:c.1218C>T, NM_001363107.1:c.1218C>A, NM_001363104.2:c.1233C>T, NM_001363104.2:c.1233C>A, NM_001363104.1:c.1233C>T, NM_001363104.1:c.1233C>A, NM_001363106.2:c.1218C>T, NM_001363106.2:c.1218C>A, NM_001363106.1:c.1218C>T, NM_001363106.1:c.1218C>A, XM_047422064.1:c.1296C>T, XM_047422064.1:c.1296C>A, XM_047422065.1:c.1218C>T, XM_047422065.1:c.1218C>A, NP_066405.1:p.Phe432Leu, NP_001103159.1:p.Phe427Leu, NP_001350028.1:p.Phe432Leu, NP_001350029.1:p.Phe427Leu, NP_001350034.1:p.Phe406Leu, NP_001350032.1:p.Phe427Leu, NP_001350031.1:p.Phe427Leu, NP_001350027.1:p.Phe432Leu, NP_001350030.1:p.Phe427Leu, NP_001350036.1:p.Phe406Leu, NP_001350033.1:p.Phe411Leu, NP_001350035.1:p.Phe406Leu, XP_047278020.1:p.Phe432Leu, XP_047278021.1:p.Phe406Leu

Select item 144769491220.

rs1447694912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144881632 (GRCh38)
8:146107017 (GRCh37)
Canonical SPDI:: NC_000008.11:144881631:G:A
Gene:: ZNF250 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144881632G>A, NC_000008.10:g.146107017G>A, NM_021061.5:c.1566C>T, NM_021061.4:c.1566C>T, NM_001109689.4:c.1551C>T, NM_001109689.3:c.1551C>T, NM_001363099.2:c.1566C>T, NM_001363099.1:c.1566C>T, NM_001363100.2:c.1551C>T, NM_001363100.1:c.1551C>T, NM_001363105.2:c.1488C>T, NM_001363105.1:c.1488C>T, NM_001363103.2:c.1551C>T, NM_001363103.1:c.1551C>T, NM_001363102.2:c.1551C>T, NM_001363102.1:c.1551C>T, NM_001363098.2:c.1566C>T, NM_001363098.1:c.1566C>T, NM_001363101.2:c.1551C>T, NM_001363101.1:c.1551C>T, NM_001363107.2:c.1488C>T, NM_001363107.1:c.1488C>T, NM_001363104.2:c.1503C>T, NM_001363104.1:c.1503C>T, NM_001363106.2:c.1488C>T, NM_001363106.1:c.1488C>T, XM_047422064.1:c.1566C>T, XM_047422065.1:c.1488C>T

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