SNP Links for Nucleotide (Select 574956966) - SNP

Select item 14878435611.

rs1487843561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:81900063 (GRCh38)
17:79857939 (GRCh37)
Canonical SPDI:: NC_000017.11:81900062:T:C,NC_000017.11:81900062:T:G
Gene:: ANAPC11 (Varview)
Functional Consequence:: coding_sequence_variant,stop_lost,synonymous_variant,missense_variant,terminator_codon_variant
Validated:: by frequency,by cluster
MAF:: G=0.0016/3 (Korea1K)
HGVS:: NC_000017.11:g.81900063T>C, NC_000017.11:g.81900063T>G, NC_000017.10:g.79857939T>C, NC_000017.10:g.79857939T>G, NM_016476.11:c.253T>C, NM_016476.11:c.253T>G, NM_016476.10:c.253T>C, NM_016476.10:c.253T>G, NM_001002248.3:c.253T>C, NM_001002248.3:c.253T>G, NM_001002248.2:c.253T>C, NM_001002248.2:c.253T>G, NM_001002248.1:c.253T>C, NM_001002248.1:c.253T>G, NM_001002244.2:c.554T>C, NM_001002244.2:c.554T>G, NM_001002244.1:c.554T>C, NM_001002244.1:c.554T>G, NM_001002249.2:c.253T>C, NM_001002249.2:c.253T>G, NM_001002249.1:c.253T>C, NM_001002249.1:c.253T>G, NM_001002246.2:c.253T>C, NM_001002246.2:c.253T>G, NM_001002246.1:c.253T>C, NM_001002246.1:c.253T>G, NM_001002247.2:c.253T>C, NM_001002247.2:c.253T>G, NM_001002247.1:c.253T>C, NM_001002247.1:c.253T>G, NM_001002245.2:c.253T>C, NM_001002245.2:c.253T>G, NM_001002245.1:c.253T>C, NM_001002245.1:c.253T>G, NM_001289420.1:c.339T>C, NM_001289420.1:c.339T>G, NM_001289417.1:c.253T>C, NM_001289417.1:c.253T>G, NM_001289419.1:c.233T>C, NM_001289419.1:c.233T>G, NM_001289416.1:c.253T>C, NM_001289416.1:c.253T>G, NM_001289418.1:c.233T>C, NM_001289418.1:c.233T>G, NM_001289415.1:c.253T>C, NM_001289415.1:c.253T>G, NM_001289414.1:c.253T>C, NM_001289414.1:c.253T>G, NP_057560.8:p.Ter85Arg, NP_057560.8:p.Ter85Gly, NP_001002248.1:p.Ter85Arg, NP_001002248.1:p.Ter85Gly, NP_001002244.1:p.Val185Ala, NP_001002244.1:p.Val185Gly, NP_001002249.1:p.Ter85Arg, NP_001002249.1:p.Ter85Gly, NP_001002246.1:p.Ter85Arg, NP_001002246.1:p.Ter85Gly, NP_001002247.1:p.Ter85Arg, NP_001002247.1:p.Ter85Gly, NP_001002245.1:p.Ter85Arg, NP_001002245.1:p.Ter85Gly, NP_001276349.1:p.Ser113Arg, NP_001276346.1:p.Ter85Arg, NP_001276346.1:p.Ter85Gly, NP_001276345.1:p.Ter85Arg, NP_001276345.1:p.Ter85Gly, NP_001276344.1:p.Ter85Arg, NP_001276344.1:p.Ter85Gly, NP_001276343.1:p.Ter85Arg, NP_001276343.1:p.Ter85Gly

Select item 14876495072.

rs1487649507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:81891747 (GRCh38)
17:79849623 (GRCh37)
Canonical SPDI:: NC_000017.11:81891746:G:A,NC_000017.11:81891746:G:C
Gene:: ALYREF (Varview), ANAPC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.81891747G>A, NC_000017.11:g.81891747G>C, NC_000017.10:g.79849623G>A, NC_000017.10:g.79849623G>C, NM_016476.11:c.-191G>A, NM_016476.11:c.-191G>C, NM_016476.10:c.-191G>A, NM_016476.10:c.-191G>C, NM_001002248.3:c.-169G>A, NM_001002248.3:c.-169G>C, NM_001002248.2:c.-169G>A, NM_001002248.2:c.-169G>C, NM_001002248.1:c.-169G>A, NM_001002248.1:c.-169G>C, NM_001002244.2:c.-128G>A, NM_001002244.2:c.-128G>C, NM_001002244.1:c.-128G>A, NM_001002244.1:c.-128G>C, NM_001002246.2:c.-161G>A, NM_001002246.2:c.-161G>C, NM_001002246.1:c.-161G>A, NM_001002246.1:c.-161G>C, NM_001002247.2:c.-106G>A, NM_001002247.2:c.-106G>C, NM_001002247.1:c.-106G>A, NM_001002247.1:c.-106G>C, NM_001002245.2:c.-98G>A, NM_001002245.2:c.-98G>C, NM_001002245.1:c.-98G>A, NM_001002245.1:c.-98G>C, NM_001289417.1:c.-253G>A, NM_001289417.1:c.-253G>C, NM_001289419.1:c.-227G>A, NM_001289419.1:c.-227G>C, NM_001289418.1:c.-156G>A, NM_001289418.1:c.-156G>C, NM_001289415.1:c.-128G>A, NM_001289415.1:c.-128G>C

Select item 14865950533.

rs1486595053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81900248 (GRCh38)
17:79858124 (GRCh37)
Canonical SPDI:: NC_000017.11:81900247:A:G
Gene:: ANAPC11 (Varview), NPB (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81900248A>G, NC_000017.10:g.79858124A>G, NM_016476.11:c.*183A>G, NM_016476.10:c.*183A>G, NM_001002248.3:c.*183A>G, NM_001002248.2:c.*183A>G, NM_001002248.1:c.*183A>G, NM_001002244.2:c.*148A>G, NM_001002244.1:c.*148A>G, NM_001002249.2:c.*183A>G, NM_001002249.1:c.*183A>G, NM_001002246.2:c.*183A>G, NM_001002246.1:c.*183A>G, NM_001002247.2:c.*183A>G, NM_001002247.1:c.*183A>G, NM_001002245.2:c.*183A>G, NM_001002245.1:c.*183A>G, NM_001289420.1:c.*98A>G, NM_001289417.1:c.*183A>G, NM_001289419.1:c.*148A>G, NM_001289416.1:c.*183A>G, NM_001289418.1:c.*148A>G, NM_001289415.1:c.*183A>G, NM_001289414.1:c.*183A>G

Select item 14856976734.

rs1485697673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:81891767 (GRCh38)
17:79849643 (GRCh37)
Canonical SPDI:: NC_000017.11:81891766:C:G,NC_000017.11:81891766:C:T
Gene:: ALYREF (Varview), ANAPC11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.81891767C>G, NC_000017.11:g.81891767C>T, NC_000017.10:g.79849643C>G, NC_000017.10:g.79849643C>T, NM_016476.11:c.-171C>G, NM_016476.11:c.-171C>T, NM_016476.10:c.-171C>G, NM_016476.10:c.-171C>T, NM_001002248.3:c.-149C>G, NM_001002248.3:c.-149C>T, NM_001002248.2:c.-149C>G, NM_001002248.2:c.-149C>T, NM_001002248.1:c.-149C>G, NM_001002248.1:c.-149C>T, NM_001002244.2:c.-108C>G, NM_001002244.2:c.-108C>T, NM_001002244.1:c.-108C>G, NM_001002244.1:c.-108C>T, NM_001002246.2:c.-141C>G, NM_001002246.2:c.-141C>T, NM_001002246.1:c.-141C>G, NM_001002246.1:c.-141C>T, NM_001002247.2:c.-86C>G, NM_001002247.2:c.-86C>T, NM_001002247.1:c.-86C>G, NM_001002247.1:c.-86C>T, NM_001002245.2:c.-78C>G, NM_001002245.2:c.-78C>T, NM_001002245.1:c.-78C>G, NM_001002245.1:c.-78C>T, NM_001289417.1:c.-233C>G, NM_001289417.1:c.-233C>T, NM_001289419.1:c.-207C>G, NM_001289419.1:c.-207C>T, NM_001289418.1:c.-136C>G, NM_001289418.1:c.-136C>T, NM_001289415.1:c.-108C>G, NM_001289415.1:c.-108C>T

Select item 14844458435.

rs1484445843 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81894582 (GRCh38)
17:79852458 (GRCh37)
Canonical SPDI:: NC_000017.11:81894581:T:C
Gene:: ANAPC11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81894582T>C, NC_000017.10:g.79852458T>C, NM_016476.11:c.105T>C, NM_016476.10:c.105T>C, NM_001002248.3:c.105T>C, NM_001002248.2:c.105T>C, NM_001002248.1:c.105T>C, NM_001002244.2:c.105T>C, NM_001002244.1:c.105T>C, NM_001002249.2:c.105T>C, NM_001002249.1:c.105T>C, NM_001002246.2:c.105T>C, NM_001002246.1:c.105T>C, NM_001002247.2:c.105T>C, NM_001002247.1:c.105T>C, NM_001002245.2:c.105T>C, NM_001002245.1:c.105T>C, NM_001289420.1:c.105T>C, NM_001289417.1:c.105T>C, NM_001289419.1:c.47T>C, NM_001289416.1:c.105T>C, NM_001289418.1:c.47T>C, NM_001289415.1:c.105T>C, NM_001289414.1:c.105T>C

Select item 14748225186.

rs1474822518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:81900323 (GRCh38)
17:79858199 (GRCh37)
Canonical SPDI:: NC_000017.11:81900322:C:G,NC_000017.11:81900322:C:T
Gene:: ANAPC11 (Varview), NPB (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000017.11:g.81900323C>G, NC_000017.11:g.81900323C>T, NC_000017.10:g.79858199C>G, NC_000017.10:g.79858199C>T, NM_016476.11:c.*258C>G, NM_016476.11:c.*258C>T, NM_016476.10:c.*258C>G, NM_016476.10:c.*258C>T, NM_001002244.2:c.*223C>G, NM_001002244.2:c.*223C>T, NM_001002244.1:c.*223C>G, NM_001002244.1:c.*223C>T, NM_001002249.2:c.*258C>G, NM_001002249.2:c.*258C>T, NM_001002249.1:c.*258C>G, NM_001002249.1:c.*258C>T, NM_001002248.2:c.*258C>G, NM_001002248.2:c.*258C>T, NM_001002246.2:c.*258C>G, NM_001002246.2:c.*258C>T, NM_001002246.1:c.*258C>G, NM_001002246.1:c.*258C>T, NM_001002247.2:c.*258C>G, NM_001002247.2:c.*258C>T, NM_001002247.1:c.*258C>G, NM_001002247.1:c.*258C>T, NM_001002245.2:c.*258C>G, NM_001002245.2:c.*258C>T, NM_001002245.1:c.*258C>G, NM_001002245.1:c.*258C>T, NM_001289420.1:c.*173C>G, NM_001289420.1:c.*173C>T, NM_001289417.1:c.*258C>G, NM_001289417.1:c.*258C>T, NM_001289419.1:c.*223C>G, NM_001289419.1:c.*223C>T, NM_001289416.1:c.*258C>G, NM_001289416.1:c.*258C>T, NM_001289418.1:c.*223C>G, NM_001289418.1:c.*223C>T, NM_001289415.1:c.*258C>G, NM_001289415.1:c.*258C>T, NM_001002248.1:c.*258C>G, NM_001002248.1:c.*258C>T, NM_001289414.1:c.*258C>G, NM_001289414.1:c.*258C>T

Select item 14711628587.

rs1471162858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:81900272 (GRCh38)
17:79858148 (GRCh37)
Canonical SPDI:: NC_000017.11:81900271:G:C
Gene:: ANAPC11 (Varview), NPB (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81900272G>C, NC_000017.10:g.79858148G>C, NM_016476.11:c.*207G>C, NM_016476.10:c.*207G>C, NM_001002244.2:c.*172G>C, NM_001002244.1:c.*172G>C, NM_001002249.2:c.*207G>C, NM_001002249.1:c.*207G>C, NM_001002248.2:c.*207G>C, NM_001002246.2:c.*207G>C, NM_001002246.1:c.*207G>C, NM_001002247.2:c.*207G>C, NM_001002247.1:c.*207G>C, NM_001002245.2:c.*207G>C, NM_001002245.1:c.*207G>C, NM_001289420.1:c.*122G>C, NM_001289417.1:c.*207G>C, NM_001289419.1:c.*172G>C, NM_001289416.1:c.*207G>C, NM_001289418.1:c.*172G>C, NM_001289415.1:c.*207G>C, NM_001002248.1:c.*207G>C, NM_001289414.1:c.*207G>C

Select item 14645602348.

rs1464560234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:81891813 (GRCh38)
17:79849689 (GRCh37)
Canonical SPDI:: NC_000017.11:81891812:G:T
Gene:: ALYREF (Varview), ANAPC11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_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_000017.11:g.81891813G>T, NC_000017.10:g.79849689G>T, NM_016476.11:c.-125G>T, NM_016476.10:c.-125G>T, NM_001002248.3:c.-103G>T, NM_001002248.2:c.-103G>T, NM_001002248.1:c.-103G>T, NM_001002244.2:c.-62G>T, NM_001002244.1:c.-62G>T, NM_001002246.2:c.-95G>T, NM_001002246.1:c.-95G>T, NM_001002247.2:c.-40G>T, NM_001002247.1:c.-40G>T, NM_001002245.2:c.-32G>T, NM_001002245.1:c.-32G>T, NM_001289417.1:c.-187G>T, NM_001289419.1:c.-161G>T, NM_001289418.1:c.-90G>T, NM_001289415.1:c.-62G>T

Select item 14632444129.

rs1463244412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:81900019 (GRCh38)
17:79857895 (GRCh37)
Canonical SPDI:: NC_000017.11:81900018:A:C
Gene:: ANAPC11 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81900019A>C, NC_000017.10:g.79857895A>C, NM_016476.11:c.209A>C, NM_016476.10:c.209A>C, NM_001002248.3:c.209A>C, NM_001002248.2:c.209A>C, NM_001002248.1:c.209A>C, NM_001002244.2:c.510A>C, NM_001002244.1:c.510A>C, NM_001002249.2:c.209A>C, NM_001002249.1:c.209A>C, NM_001002246.2:c.209A>C, NM_001002246.1:c.209A>C, NM_001002247.2:c.209A>C, NM_001002247.1:c.209A>C, NM_001002245.2:c.209A>C, NM_001002245.1:c.209A>C, NM_001289420.1:c.295A>C, NM_001289417.1:c.209A>C, NM_001289419.1:c.189A>C, NM_001289416.1:c.209A>C, NM_001289418.1:c.189A>C, NM_001289415.1:c.209A>C, NM_001289414.1:c.209A>C, NP_057560.8:p.Gln70Pro, NP_001002248.1:p.Gln70Pro, NP_001002249.1:p.Gln70Pro, NP_001002246.1:p.Gln70Pro, NP_001002247.1:p.Gln70Pro, NP_001002245.1:p.Gln70Pro, NP_001276349.1:p.Ser99Arg, NP_001276346.1:p.Gln70Pro, NP_001276345.1:p.Gln70Pro, NP_001276344.1:p.Gln70Pro, NP_001276343.1:p.Gln70Pro

Select item 146245330210.

rs1462453302 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 17:81900148 (GRCh38)
17:79858024 (GRCh37)
Canonical SPDI:: NC_000017.11:81900147:T:
Gene:: ANAPC11 (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81900148del, NC_000017.10:g.79858024del, NM_016476.11:c.*83del, NM_016476.10:c.*83del, NM_001002248.3:c.*83del, NM_001002248.2:c.*83del, NM_001002248.1:c.*83del, NM_001002244.2:c.*48del, NM_001002244.1:c.*48del, NM_001002249.2:c.*83del, NM_001002249.1:c.*83del, NM_001002246.2:c.*83del, NM_001002246.1:c.*83del, NM_001002247.2:c.*83del, NM_001002247.1:c.*83del, NM_001002245.2:c.*83del, NM_001002245.1:c.*83del, NM_001289420.1:c.424del, NM_001289417.1:c.*83del, NM_001289419.1:c.*48del, NM_001289416.1:c.*83del, NM_001289418.1:c.*48del, NM_001289415.1:c.*83del, NM_001289414.1:c.*83del, NP_001276349.1:p.Ter142GluextTer?

Select item 145812824411.

rs1458128244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81891798 (GRCh38)
17:79849674 (GRCh37)
Canonical SPDI:: NC_000017.11:81891797:C:T
Gene:: ALYREF (Varview), ANAPC11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81891798C>T, NC_000017.10:g.79849674C>T, NM_016476.11:c.-140C>T, NM_016476.10:c.-140C>T, NM_001002248.3:c.-118C>T, NM_001002248.2:c.-118C>T, NM_001002248.1:c.-118C>T, NM_001002244.2:c.-77C>T, NM_001002244.1:c.-77C>T, NM_001002246.2:c.-110C>T, NM_001002246.1:c.-110C>T, NM_001002247.2:c.-55C>T, NM_001002247.1:c.-55C>T, NM_001002245.2:c.-47C>T, NM_001002245.1:c.-47C>T, NM_001289417.1:c.-202C>T, NM_001289419.1:c.-176C>T, NM_001289418.1:c.-105C>T, NM_001289415.1:c.-77C>T

Select item 145664024512.

rs1456640245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81900293 (GRCh38)
17:79858169 (GRCh37)
Canonical SPDI:: NC_000017.11:81900292:A:G
Gene:: ANAPC11 (Varview), NPB (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81900293A>G, NC_000017.10:g.79858169A>G, NM_016476.11:c.*228A>G, NM_016476.10:c.*228A>G, NM_001002244.2:c.*193A>G, NM_001002244.1:c.*193A>G, NM_001002249.2:c.*228A>G, NM_001002249.1:c.*228A>G, NM_001002248.2:c.*228A>G, NM_001002246.2:c.*228A>G, NM_001002246.1:c.*228A>G, NM_001002247.2:c.*228A>G, NM_001002247.1:c.*228A>G, NM_001002245.2:c.*228A>G, NM_001002245.1:c.*228A>G, NM_001289420.1:c.*143A>G, NM_001289417.1:c.*228A>G, NM_001289419.1:c.*193A>G, NM_001289416.1:c.*228A>G, NM_001289418.1:c.*193A>G, NM_001289415.1:c.*228A>G, NM_001002248.1:c.*228A>G, NM_001289414.1:c.*228A>G

Select item 145644454413.

rs1456444544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81891765 (GRCh38)
17:79849641 (GRCh37)
Canonical SPDI:: NC_000017.11:81891764:G:A
Gene:: ALYREF (Varview), ANAPC11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.81891765G>A, NC_000017.10:g.79849641G>A, NM_016476.11:c.-173G>A, NM_016476.10:c.-173G>A, NM_001002248.3:c.-151G>A, NM_001002248.2:c.-151G>A, NM_001002248.1:c.-151G>A, NM_001002244.2:c.-110G>A, NM_001002244.1:c.-110G>A, NM_001002246.2:c.-143G>A, NM_001002246.1:c.-143G>A, NM_001002247.2:c.-88G>A, NM_001002247.1:c.-88G>A, NM_001002245.2:c.-80G>A, NM_001002245.1:c.-80G>A, NM_001289417.1:c.-235G>A, NM_001289419.1:c.-209G>A, NM_001289418.1:c.-138G>A, NM_001289415.1:c.-110G>A

Select item 145612851014.

rs1456128510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:81891734 (GRCh38)
17:79849610 (GRCh37)
Canonical SPDI:: NC_000017.11:81891733:C:A
Gene:: ALYREF (Varview), ANAPC11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81891734C>A, NC_000017.10:g.79849610C>A, NM_016476.11:c.-204C>A, NM_016476.10:c.-204C>A, NM_001002248.3:c.-182C>A, NM_001002248.2:c.-182C>A, NM_001002248.1:c.-182C>A, NM_001002244.2:c.-141C>A, NM_001002244.1:c.-141C>A, NM_001002246.2:c.-174C>A, NM_001002246.1:c.-174C>A, NM_001002247.2:c.-119C>A, NM_001002247.1:c.-119C>A, NM_001002245.2:c.-111C>A, NM_001002245.1:c.-111C>A, NM_001289417.1:c.-266C>A, NM_001289419.1:c.-240C>A, NM_001289418.1:c.-169C>A, NM_001289415.1:c.-141C>A

Select item 145464997415.

rs1454649974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:81900073 (GRCh38)
17:79857949 (GRCh37)
Canonical SPDI:: NC_000017.11:81900072:C:A,NC_000017.11:81900072:C:T
Gene:: ANAPC11 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001119/5 (ALFA)
T=0.000021/3 (GnomAD)
T=0.001116/5 (Estonian)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.81900073C>A, NC_000017.11:g.81900073C>T, NC_000017.10:g.79857949C>A, NC_000017.10:g.79857949C>T, NM_016476.11:c.*8C>A, NM_016476.11:c.*8C>T, NM_016476.10:c.*8C>A, NM_016476.10:c.*8C>T, NM_001002248.3:c.*8C>A, NM_001002248.3:c.*8C>T, NM_001002248.2:c.*8C>A, NM_001002248.2:c.*8C>T, NM_001002248.1:c.*8C>A, NM_001002248.1:c.*8C>T, NM_001002244.2:c.564C>A, NM_001002244.2:c.564C>T, NM_001002244.1:c.564C>A, NM_001002244.1:c.564C>T, NM_001002249.2:c.*8C>A, NM_001002249.2:c.*8C>T, NM_001002249.1:c.*8C>A, NM_001002249.1:c.*8C>T, NM_001002246.2:c.*8C>A, NM_001002246.2:c.*8C>T, NM_001002246.1:c.*8C>A, NM_001002246.1:c.*8C>T, NM_001002247.2:c.*8C>A, NM_001002247.2:c.*8C>T, NM_001002247.1:c.*8C>A, NM_001002247.1:c.*8C>T, NM_001002245.2:c.*8C>A, NM_001002245.2:c.*8C>T, NM_001002245.1:c.*8C>A, NM_001002245.1:c.*8C>T, NM_001289420.1:c.349C>A, NM_001289420.1:c.349C>T, NM_001289417.1:c.*8C>A, NM_001289417.1:c.*8C>T, NM_001289419.1:c.243C>A, NM_001289419.1:c.243C>T, NM_001289416.1:c.*8C>A, NM_001289416.1:c.*8C>T, NM_001289418.1:c.243C>A, NM_001289418.1:c.243C>T, NM_001289415.1:c.*8C>A, NM_001289415.1:c.*8C>T, NM_001289414.1:c.*8C>A, NM_001289414.1:c.*8C>T, NP_001002244.1:p.Asp188Glu, NP_001276349.1:p.Pro117Thr, NP_001276349.1:p.Pro117Ser

Select item 145407514916.

rs1454075149 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:81900374 (GRCh38)
17:79858250 (GRCh37)
Canonical SPDI:: NC_000017.11:81900372:GAG:G
Gene:: ANAPC11 (Varview), NPB (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81900374_81900375del, NC_000017.10:g.79858250_79858251del, NM_016476.11:c.*309_*310del, NM_016476.10:c.*309_*310del, NM_001002244.2:c.*274_*275del, NM_001002244.1:c.*274_*275del, NM_001002249.2:c.*309_*310del, NM_001002249.1:c.*309_*310del, NM_001002248.2:c.*309_*310del, NM_001002246.2:c.*309_*310del, NM_001002246.1:c.*309_*310del, NM_001002247.2:c.*309_*310del, NM_001002247.1:c.*309_*310del, NM_001002245.2:c.*309_*310del, NM_001002245.1:c.*309_*310del, NM_001289420.1:c.*224_*225del, NM_001289417.1:c.*309_*310del, NM_001289419.1:c.*274_*275del, NM_001289416.1:c.*309_*310del, NM_001289418.1:c.*274_*275del, NM_001289415.1:c.*309_*310del, NM_001002248.1:c.*309_*310del, NM_001289414.1:c.*309_*310del

Select item 145325690917.

rs1453256909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:81891804 (GRCh38)
17:79849680 (GRCh37)
Canonical SPDI:: NC_000017.11:81891803:C:G
Gene:: ALYREF (Varview), ANAPC11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000106/2 (TOMMO)
HGVS:: NC_000017.11:g.81891804C>G, NC_000017.10:g.79849680C>G, NM_016476.11:c.-134C>G, NM_016476.10:c.-134C>G, NM_001002248.3:c.-112C>G, NM_001002248.2:c.-112C>G, NM_001002248.1:c.-112C>G, NM_001002244.2:c.-71C>G, NM_001002244.1:c.-71C>G, NM_001002246.2:c.-104C>G, NM_001002246.1:c.-104C>G, NM_001002247.2:c.-49C>G, NM_001002247.1:c.-49C>G, NM_001002245.2:c.-41C>G, NM_001002245.1:c.-41C>G, NM_001289417.1:c.-196C>G, NM_001289419.1:c.-170C>G, NM_001289418.1:c.-99C>G, NM_001289415.1:c.-71C>G

Select item 144225373818.

rs1442253738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81900101 (GRCh38)
17:79857977 (GRCh37)
Canonical SPDI:: NC_000017.11:81900100:G:A
Gene:: ANAPC11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
HGVS:: NC_000017.11:g.81900101G>A, NC_000017.10:g.79857977G>A, NM_016476.11:c.*36G>A, NM_016476.10:c.*36G>A, NM_001002248.3:c.*36G>A, NM_001002248.2:c.*36G>A, NM_001002248.1:c.*36G>A, NM_001002244.2:c.*1G>A, NM_001002244.1:c.*1G>A, NM_001002249.2:c.*36G>A, NM_001002249.1:c.*36G>A, NM_001002246.2:c.*36G>A, NM_001002246.1:c.*36G>A, NM_001002247.2:c.*36G>A, NM_001002247.1:c.*36G>A, NM_001002245.2:c.*36G>A, NM_001002245.1:c.*36G>A, NM_001289420.1:c.377G>A, NM_001289417.1:c.*36G>A, NM_001289419.1:c.*1G>A, NM_001289416.1:c.*36G>A, NM_001289418.1:c.*1G>A, NM_001289415.1:c.*36G>A, NM_001289414.1:c.*36G>A, NP_001276349.1:p.Arg126Lys

Select item 143695027019.

rs1436950270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81891730 (GRCh38)
17:79849606 (GRCh37)
Canonical SPDI:: NC_000017.11:81891729:C:T
Gene:: ALYREF (Varview), ANAPC11 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81891730C>T, NC_000017.10:g.79849606C>T, NM_016476.11:c.-208C>T, NM_016476.10:c.-208C>T, NM_001002248.3:c.-186C>T, NM_001002248.2:c.-186C>T, NM_001002248.1:c.-186C>T, NM_001002244.2:c.-145C>T, NM_001002244.1:c.-145C>T, NM_001002246.2:c.-178C>T, NM_001002246.1:c.-178C>T, NM_001002247.2:c.-123C>T, NM_001002247.1:c.-123C>T, NM_001002245.2:c.-115C>T, NM_001002245.1:c.-115C>T, NM_001289417.1:c.-270C>T, NM_001289419.1:c.-244C>T, NM_001289418.1:c.-173C>T, NM_001289415.1:c.-145C>T

Select item 143439419020.

rs1434394190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81900451 (GRCh38)
17:79858327 (GRCh37)
Canonical SPDI:: NC_000017.11:81900450:T:C
Gene:: ANAPC11 (Varview), NPB (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81900451T>C, NC_000017.10:g.79858327T>C, NM_016476.11:c.*386T>C, NM_016476.10:c.*386T>C, NM_001002244.2:c.*351T>C, NM_001002244.1:c.*351T>C, NM_001002249.2:c.*386T>C, NM_001002249.1:c.*386T>C, NM_001002248.2:c.*386T>C, NM_001002246.2:c.*386T>C, NM_001002246.1:c.*386T>C, NM_001002247.2:c.*386T>C, NM_001002247.1:c.*386T>C, NM_001002245.2:c.*386T>C, NM_001002245.1:c.*386T>C, NM_001289420.1:c.*301T>C, NM_001289417.1:c.*386T>C, NM_001289419.1:c.*351T>C, NM_001289416.1:c.*386T>C, NM_001289418.1:c.*351T>C, NM_001289415.1:c.*386T>C, NM_001002248.1:c.*386T>C, NM_001289414.1:c.*386T>C

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