SNP Links for Nucleotide (Select 557129056) - SNP

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Select item 14892851601.

rs1489285160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:46318166 (GRCh38)
21:47738080 (GRCh37)
Canonical SPDI:: NC_000021.9:46318165:G:T
Gene:: C21orf58 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.46318166G>T, NC_000021.8:g.47738080G>T, XM_005261148.6:c.155C>A, XM_005261148.5:c.155C>A, XM_005261148.4:c.155C>A, XM_005261148.3:c.155C>A, XM_005261148.2:c.155C>A, XM_005261148.1:c.155C>A, NM_058180.5:c.155C>A, NM_058180.4:c.155C>A, NM_058180.3:c.155C>A, XM_006724018.5:c.155C>A, XM_006724018.4:c.155C>A, XM_006724018.3:c.155C>A, XM_006724018.2:c.155C>A, XM_006724018.1:c.155C>A, XM_011529619.4:c.155C>A, XM_011529619.3:c.155C>A, XM_011529619.2:c.155C>A, XM_011529619.1:c.155C>A, XM_011529620.4:c.155C>A, XM_011529620.3:c.155C>A, XM_011529620.2:c.155C>A, XM_011529620.1:c.155C>A, XM_011529623.4:c.74C>A, XM_011529623.3:c.74C>A, XM_011529623.2:c.74C>A, XM_011529623.1:c.74C>A, XM_011529624.3:c.-294C>A, XM_011529628.3:c.155C>A, XM_011529628.2:c.155C>A, XM_011529628.1:c.155C>A, NM_001286476.2:c.-413C>A, NM_001286476.1:c.-413C>A, NM_001286477.2:c.-333C>A, NM_001286477.1:c.-333C>A, XM_017028393.2:c.-705C>A, XM_017028392.2:c.-532C>A, XM_017028392.1:c.-532C>A, NM_001286462.2:c.-413C>A, NM_001286462.1:c.-413C>A, NM_199071.2:c.155C>A, XM_047440892.1:c.155C>A, NM_199071.1:c.155C>A, XM_047440893.1:c.155C>A, XM_047440895.1:c.-95C>A, XM_047440896.1:c.155C>A, XM_047440894.1:c.74C>A, NM_001286463.1:c.-413C>A, XP_005261205.1:p.Pro52His, NP_478060.2:p.Pro52His, XP_006724081.1:p.Pro52His, XP_011527921.1:p.Pro52His, XP_011527922.1:p.Pro52His, XP_011527925.1:p.Pro25His, XP_011527930.1:p.Pro52His, XP_047296848.1:p.Pro52His, XP_047296849.1:p.Pro52His, XP_047296852.1:p.Pro52His, XP_047296850.1:p.Pro25His

Select item 14875631472.

rs1487563147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:46301963 (GRCh38)
21:47721877 (GRCh37)
Canonical SPDI:: NC_000021.9:46301962:G:A
Gene:: C21orf58 (Varview), YBEY (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
HGVS:: NC_000021.9:g.46301963G>A, NC_000021.8:g.47721877G>A, NM_058180.5:c.*36C>T, NM_058180.4:c.*36C>T, NM_058180.3:c.*36C>T, XM_011529623.4:c.*36C>T, XM_011529623.3:c.*36C>T, XM_011529623.2:c.*36C>T, XM_011529623.1:c.*36C>T, XM_011529624.3:c.*36C>T, XM_011529624.2:c.*36C>T, XM_011529624.1:c.*36C>T, NM_001286477.2:c.*36C>T, NM_001286477.1:c.*36C>T, XM_017028393.2:c.*36C>T, XM_017028393.1:c.*36C>T, XM_017028392.2:c.*36C>T, XM_017028392.1:c.*36C>T, XM_047440892.1:c.*36C>T, XM_047440895.1:c.*36C>T, NM_001286463.1:c.*36C>T

Select item 14830389493.

rs1483038949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:46301642 (GRCh38)
21:47721556 (GRCh37)
Canonical SPDI:: NC_000021.9:46301641:C:T
Gene:: C21orf58 (Varview), YBEY (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.46301642C>T, NC_000021.8:g.47721556C>T, XM_005261148.6:c.*74G>A, XM_005261148.5:c.*74G>A, XM_005261148.4:c.*74G>A, XM_005261148.3:c.*74G>A, XM_005261148.2:c.*74G>A, XM_005261148.1:c.*74G>A, NM_058180.5:c.*357G>A, NM_058180.4:c.*357G>A, NM_058180.3:c.*357G>A, XM_011529623.4:c.*357G>A, XM_011529623.3:c.*357G>A, XM_011529623.2:c.*357G>A, XM_011529623.1:c.*357G>A, XM_011529624.3:c.*357G>A, XM_011529624.2:c.*357G>A, XM_011529624.1:c.*357G>A, NM_001286476.2:c.*74G>A, NM_001286476.1:c.*74G>A, NM_001286477.2:c.*357G>A, NM_001286477.1:c.*357G>A, XM_017028393.2:c.*357G>A, XM_017028393.1:c.*357G>A, XM_017028392.2:c.*357G>A, XM_017028392.1:c.*357G>A, NM_199071.2:c.*971G>A, XM_047440892.1:c.*357G>A, NM_199071.1:c.*969G>A, XM_047440893.1:c.*74G>A, XM_047440895.1:c.*357G>A, NM_001286463.1:c.*357G>A

Select item 14806687114.

rs1480668711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:46301579 (GRCh38)
21:47721493 (GRCh37)
Canonical SPDI:: NC_000021.9:46301578:C:A
Gene:: C21orf58 (Varview), YBEY (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.46301579C>A, NC_000021.8:g.47721493C>A, XM_005261148.6:c.*137G>T, XM_005261148.5:c.*137G>T, XM_005261148.4:c.*137G>T, XM_005261148.3:c.*137G>T, XM_005261148.2:c.*137G>T, XM_005261148.1:c.*137G>T, NM_058180.5:c.*420G>T, NM_058180.4:c.*420G>T, NM_058180.3:c.*420G>T, XM_011529623.4:c.*420G>T, XM_011529623.3:c.*420G>T, XM_011529623.2:c.*420G>T, XM_011529623.1:c.*420G>T, XM_011529624.3:c.*420G>T, XM_011529624.2:c.*420G>T, XM_011529624.1:c.*420G>T, NM_001286476.2:c.*137G>T, NM_001286476.1:c.*137G>T, NM_001286477.2:c.*420G>T, NM_001286477.1:c.*420G>T, XM_017028393.2:c.*420G>T, XM_017028393.1:c.*420G>T, XM_017028392.2:c.*420G>T, XM_017028392.1:c.*420G>T, NM_199071.2:c.*1034G>T, XM_047440892.1:c.*420G>T, NM_199071.1:c.*1032G>T, XM_047440893.1:c.*137G>T, XM_047440895.1:c.*420G>T, NM_001286463.1:c.*420G>T

Select item 14778512635.

rs1477851263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:46314823 (GRCh38)
21:47734737 (GRCh37)
Canonical SPDI:: NC_000021.9:46314822:C:A
Gene:: C21orf58 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000013/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000021.9:g.46314823C>A, NC_000021.8:g.47734737C>A, XM_005261148.6:c.502G>T, XM_005261148.5:c.502G>T, XM_005261148.4:c.502G>T, XM_005261148.3:c.502G>T, XM_005261148.2:c.502G>T, XM_005261148.1:c.502G>T, NM_058180.5:c.502G>T, NM_058180.4:c.502G>T, NM_058180.3:c.502G>T, XM_006724018.5:c.502G>T, XM_006724018.4:c.502G>T, XM_006724018.3:c.502G>T, XM_006724018.2:c.502G>T, XM_006724018.1:c.502G>T, XM_011529619.4:c.502G>T, XM_011529619.3:c.502G>T, XM_011529619.2:c.502G>T, XM_011529619.1:c.502G>T, XM_011529620.4:c.502G>T, XM_011529620.3:c.502G>T, XM_011529620.2:c.502G>T, XM_011529620.1:c.502G>T, XM_011529623.4:c.421G>T, XM_011529623.3:c.421G>T, XM_011529623.2:c.421G>T, XM_011529623.1:c.421G>T, XM_011529624.3:c.307G>T, XM_011529624.2:c.307G>T, XM_011529624.1:c.307G>T, NM_001286476.2:c.184G>T, NM_001286476.1:c.184G>T, NM_001286477.2:c.184G>T, NM_001286477.1:c.184G>T, XM_017028393.2:c.184G>T, XM_017028393.1:c.184G>T, XM_017028392.2:c.184G>T, XM_017028392.1:c.184G>T, NM_001286462.2:c.184G>T, NM_001286462.1:c.184G>T, NM_199071.2:c.*430G>T, XM_047440892.1:c.499G>T, NM_199071.1:c.*428G>T, XM_047440893.1:c.499G>T, XM_047440895.1:c.253G>T, XM_047440896.1:c.*134G>T, XM_047440894.1:c.421G>T, NM_001286463.1:c.184G>T, XP_005261205.1:p.Gly168Ter, NP_478060.2:p.Gly168Ter, XP_006724081.1:p.Gly168Ter, XP_011527921.1:p.Gly168Ter, XP_011527922.1:p.Gly168Ter, XP_011527925.1:p.Gly141Ter, XP_011527926.1:p.Gly103Ter, NP_001273405.1:p.Gly62Ter, NP_001273406.1:p.Gly62Ter, XP_016883882.1:p.Gly62Ter, XP_016883881.1:p.Gly62Ter, NP_001273391.1:p.Gly62Ter, XP_047296848.1:p.Gly167Ter, XP_047296849.1:p.Gly167Ter, XP_047296851.1:p.Gly85Ter, XP_047296850.1:p.Gly141Ter, NP_001273392.1:p.Gly62Ter

Select item 14776911766.

rs1477691176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:46314762 (GRCh38)
21:47734676 (GRCh37)
Canonical SPDI:: NC_000021.9:46314761:G:A
Gene:: C21orf58 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.46314762G>A, NC_000021.8:g.47734676G>A, XM_005261148.6:c.563C>T, XM_005261148.5:c.563C>T, XM_005261148.4:c.563C>T, XM_005261148.3:c.563C>T, XM_005261148.2:c.563C>T, XM_005261148.1:c.563C>T, NM_058180.5:c.563C>T, NM_058180.4:c.563C>T, NM_058180.3:c.563C>T, XM_006724018.5:c.563C>T, XM_006724018.4:c.563C>T, XM_006724018.3:c.563C>T, XM_006724018.2:c.563C>T, XM_006724018.1:c.563C>T, XM_011529619.4:c.563C>T, XM_011529619.3:c.563C>T, XM_011529619.2:c.563C>T, XM_011529619.1:c.563C>T, XM_011529620.4:c.563C>T, XM_011529620.3:c.563C>T, XM_011529620.2:c.563C>T, XM_011529620.1:c.563C>T, XM_011529623.4:c.482C>T, XM_011529623.3:c.482C>T, XM_011529623.2:c.482C>T, XM_011529623.1:c.482C>T, XM_011529624.3:c.368C>T, XM_011529624.2:c.368C>T, XM_011529624.1:c.368C>T, NM_001286476.2:c.245C>T, NM_001286476.1:c.245C>T, NM_001286477.2:c.245C>T, NM_001286477.1:c.245C>T, XM_017028393.2:c.245C>T, XM_017028393.1:c.245C>T, XM_017028392.2:c.245C>T, XM_017028392.1:c.245C>T, NM_001286462.2:c.245C>T, NM_001286462.1:c.245C>T, NM_199071.2:c.*491C>T, XM_047440892.1:c.560C>T, NM_199071.1:c.*489C>T, XM_047440893.1:c.560C>T, XM_047440895.1:c.314C>T, XM_047440896.1:c.*195C>T, XM_047440894.1:c.482C>T, NM_001286463.1:c.245C>T, XP_005261205.1:p.Ser188Phe, NP_478060.2:p.Ser188Phe, XP_006724081.1:p.Ser188Phe, XP_011527921.1:p.Ser188Phe, XP_011527922.1:p.Ser188Phe, XP_011527925.1:p.Ser161Phe, XP_011527926.1:p.Ser123Phe, NP_001273405.1:p.Ser82Phe, NP_001273406.1:p.Ser82Phe, XP_016883882.1:p.Ser82Phe, XP_016883881.1:p.Ser82Phe, NP_001273391.1:p.Ser82Phe, XP_047296848.1:p.Ser187Phe, XP_047296849.1:p.Ser187Phe, XP_047296851.1:p.Ser105Phe, XP_047296850.1:p.Ser161Phe, NP_001273392.1:p.Ser82Phe

Select item 14749476097.

rs1474947609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:46314859 (GRCh38)
21:47734773 (GRCh37)
Canonical SPDI:: NC_000021.9:46314858:G:A
Gene:: C21orf58 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.46314859G>A, NC_000021.8:g.47734773G>A, XM_005261148.6:c.466C>T, XM_005261148.5:c.466C>T, XM_005261148.4:c.466C>T, XM_005261148.3:c.466C>T, XM_005261148.2:c.466C>T, XM_005261148.1:c.466C>T, NM_058180.5:c.466C>T, NM_058180.4:c.466C>T, NM_058180.3:c.466C>T, XM_006724018.5:c.466C>T, XM_006724018.4:c.466C>T, XM_006724018.3:c.466C>T, XM_006724018.2:c.466C>T, XM_006724018.1:c.466C>T, XM_011529619.4:c.466C>T, XM_011529619.3:c.466C>T, XM_011529619.2:c.466C>T, XM_011529619.1:c.466C>T, XM_011529620.4:c.466C>T, XM_011529620.3:c.466C>T, XM_011529620.2:c.466C>T, XM_011529620.1:c.466C>T, XM_011529623.4:c.385C>T, XM_011529623.3:c.385C>T, XM_011529623.2:c.385C>T, XM_011529623.1:c.385C>T, XM_011529624.3:c.271C>T, XM_011529624.2:c.271C>T, XM_011529624.1:c.271C>T, NM_001286476.2:c.148C>T, NM_001286476.1:c.148C>T, NM_001286477.2:c.148C>T, NM_001286477.1:c.148C>T, XM_017028393.2:c.148C>T, XM_017028393.1:c.148C>T, XM_017028392.2:c.148C>T, XM_017028392.1:c.148C>T, NM_001286462.2:c.148C>T, NM_001286462.1:c.148C>T, NM_199071.2:c.*394C>T, XM_047440892.1:c.463C>T, NM_199071.1:c.*392C>T, XM_047440893.1:c.463C>T, XM_047440895.1:c.217C>T, XM_047440896.1:c.*98C>T, XM_047440894.1:c.385C>T, NM_001286463.1:c.148C>T, XP_005261205.1:p.Leu156Phe, NP_478060.2:p.Leu156Phe, XP_006724081.1:p.Leu156Phe, XP_011527921.1:p.Leu156Phe, XP_011527922.1:p.Leu156Phe, XP_011527925.1:p.Leu129Phe, XP_011527926.1:p.Leu91Phe, NP_001273405.1:p.Leu50Phe, NP_001273406.1:p.Leu50Phe, XP_016883882.1:p.Leu50Phe, XP_016883881.1:p.Leu50Phe, NP_001273391.1:p.Leu50Phe, XP_047296848.1:p.Leu155Phe, XP_047296849.1:p.Leu155Phe, XP_047296851.1:p.Leu73Phe, XP_047296850.1:p.Leu129Phe, NP_001273392.1:p.Leu50Phe

Select item 14735266528.

rs1473526652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:46302111 (GRCh38)
21:47722025 (GRCh37)
Canonical SPDI:: NC_000021.9:46302110:G:C
Gene:: C21orf58 (Varview), YBEY (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.46302111G>C, NC_000021.8:g.47722025G>C, XM_005261148.6:c.857C>G, XM_005261148.5:c.857C>G, XM_005261148.4:c.857C>G, XM_005261148.3:c.857C>G, XM_005261148.2:c.857C>G, XM_005261148.1:c.857C>G, NM_058180.5:c.857C>G, NM_058180.4:c.857C>G, NM_058180.3:c.857C>G, XM_011529619.4:c.857C>G, XM_011529619.3:c.857C>G, XM_011529619.2:c.857C>G, XM_011529619.1:c.857C>G, XM_011529620.4:c.857C>G, XM_011529620.3:c.857C>G, XM_011529620.2:c.857C>G, XM_011529620.1:c.857C>G, XM_011529623.4:c.776C>G, XM_011529623.3:c.776C>G, XM_011529623.2:c.776C>G, XM_011529623.1:c.776C>G, XM_011529624.3:c.662C>G, XM_011529624.2:c.662C>G, XM_011529624.1:c.662C>G, NM_001286476.2:c.539C>G, NM_001286476.1:c.539C>G, NM_001286477.2:c.539C>G, NM_001286477.1:c.539C>G, XM_017028393.2:c.539C>G, XM_017028393.1:c.539C>G, XM_017028392.2:c.539C>G, XM_017028392.1:c.539C>G, NM_001286462.2:c.539C>G, NM_001286462.1:c.539C>G, NM_199071.2:c.*785C>G, XM_047440892.1:c.854C>G, NM_199071.1:c.*783C>G, XM_047440893.1:c.854C>G, XM_047440895.1:c.608C>G, NM_001286463.1:c.539C>G, XP_005261205.1:p.Pro286Arg, NP_478060.2:p.Pro286Arg, XP_011527921.1:p.Pro286Arg, XP_011527922.1:p.Pro286Arg, XP_011527925.1:p.Pro259Arg, XP_011527926.1:p.Pro221Arg, NP_001273405.1:p.Pro180Arg, NP_001273406.1:p.Pro180Arg, XP_016883882.1:p.Pro180Arg, XP_016883881.1:p.Pro180Arg, NP_001273391.1:p.Pro180Arg, XP_047296848.1:p.Pro285Arg, XP_047296849.1:p.Pro285Arg, XP_047296851.1:p.Pro203Arg, NP_001273392.1:p.Pro180Arg

Select item 14718124289.

rs1471812428 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:46301393 (GRCh38)
21:47721307 (GRCh37)
Canonical SPDI:: NC_000021.9:46301392:T:A
Gene:: C21orf58 (Varview), YBEY (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.46301393T>A, NC_000021.8:g.47721307T>A, XM_005261148.6:c.*323A>T, XM_005261148.5:c.*323A>T, XM_005261148.4:c.*323A>T, XM_005261148.3:c.*323A>T, XM_005261148.2:c.*323A>T, XM_005261148.1:c.*323A>T, NM_058180.5:c.*606A>T, NM_058180.4:c.*607A>T, NM_058180.3:c.*607A>T, XM_011529623.4:c.*606A>T, XM_011529623.3:c.*606A>T, XM_011529623.2:c.*606A>T, XM_011529623.1:c.*606A>T, XM_011529624.3:c.*606A>T, XM_011529624.2:c.*606A>T, XM_011529624.1:c.*606A>T, NM_001286476.2:c.*323A>T, NM_001286476.1:c.*324A>T, NM_001286477.2:c.*606A>T, NM_001286477.1:c.*607A>T, XM_017028393.2:c.*606A>T, XM_017028393.1:c.*606A>T, XM_017028392.2:c.*606A>T, XM_017028392.1:c.*606A>T, NM_199071.2:c.*1221A>T, XM_047440892.1:c.*606A>T, NM_199071.1:c.*1218A>T, XM_047440893.1:c.*323A>T, XM_047440895.1:c.*606A>T, NM_001286463.1:c.*607A>T

Select item 147060155010.

rs1470601550 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 21:46302026 (GRCh38)
21:47721940 (GRCh37)
Canonical SPDI:: NC_000021.9:46302025:GGGGG:GGGG
Gene:: C21orf58 (Varview), YBEY (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,intron_variant
HGVS:: NC_000021.9:g.46302030del, NC_000021.8:g.47721944del, XM_005261148.6:c.942del, XM_005261148.5:c.942del, XM_005261148.4:c.942del, XM_005261148.3:c.942del, XM_005261148.2:c.942del, XM_005261148.1:c.942del, NM_058180.5:c.942del, NM_058180.4:c.942del, NM_058180.3:c.942del, XM_011529619.4:c.942del, XM_011529619.3:c.942del, XM_011529619.2:c.942del, XM_011529619.1:c.942del, XM_011529620.4:c.942del, XM_011529620.3:c.942del, XM_011529620.2:c.942del, XM_011529620.1:c.942del, XM_011529623.4:c.861del, XM_011529623.3:c.861del, XM_011529623.2:c.861del, XM_011529623.1:c.861del, XM_011529624.3:c.747del, XM_011529624.2:c.747del, XM_011529624.1:c.747del, NM_001286476.2:c.624del, NM_001286476.1:c.624del, NM_001286477.2:c.624del, NM_001286477.1:c.624del, XM_017028393.2:c.624del, XM_017028393.1:c.624del, XM_017028392.2:c.624del, XM_017028392.1:c.624del, NM_001286462.2:c.624del, NM_001286462.1:c.624del, NM_199071.2:c.*870del, XM_047440892.1:c.939del, NM_199071.1:c.*868del, XM_047440893.1:c.939del, XM_047440895.1:c.693del, NM_001286463.1:c.624del, XP_005261205.1:p.Ser315fs, NP_478060.2:p.Ser315fs, XP_011527921.1:p.Ser315fs, XP_011527922.1:p.Ser315fs, XP_011527925.1:p.Ser288fs, XP_011527926.1:p.Ser250fs, NP_001273405.1:p.Ser209fs, NP_001273406.1:p.Ser209fs, XP_016883882.1:p.Ser209fs, XP_016883881.1:p.Ser209fs, NP_001273391.1:p.Ser209fs, XP_047296848.1:p.Ser314fs, XP_047296849.1:p.Ser314fs, XP_047296851.1:p.Ser232fs, NP_001273392.1:p.Ser209fs

Select item 146979614511.

rs1469796145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 21:46301310 (GRCh38)
21:47721224 (GRCh37)
Canonical SPDI:: NC_000021.9:46301309:T:A,NC_000021.9:46301309:T:G
Gene:: C21orf58 (Varview), YBEY (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000021.9:g.46301310T>A, NC_000021.9:g.46301310T>G, NC_000021.8:g.47721224T>A, NC_000021.8:g.47721224T>G, XM_005261148.6:c.*406A>T, XM_005261148.6:c.*406A>C, XM_005261148.5:c.*406A>T, XM_005261148.5:c.*406A>C, XM_005261148.4:c.*406A>T, XM_005261148.4:c.*406A>C, XM_005261148.3:c.*406A>T, XM_005261148.3:c.*406A>C, XM_005261148.2:c.*406A>T, XM_005261148.2:c.*406A>C, XM_005261148.1:c.*406A>T, XM_005261148.1:c.*406A>C, NM_058180.5:c.*689A>T, NM_058180.5:c.*689A>C, NM_058180.4:c.*690A>T, NM_058180.4:c.*690A>C, NM_058180.3:c.*690A>T, NM_058180.3:c.*690A>C, XM_011529623.4:c.*689A>T, XM_011529623.4:c.*689A>C, XM_011529623.3:c.*689A>T, XM_011529623.3:c.*689A>C, XM_011529623.2:c.*689A>T, XM_011529623.2:c.*689A>C, XM_011529623.1:c.*689A>T, XM_011529623.1:c.*689A>C, XM_011529624.3:c.*689A>T, XM_011529624.3:c.*689A>C, XM_011529624.2:c.*689A>T, XM_011529624.2:c.*689A>C, XM_011529624.1:c.*689A>T, XM_011529624.1:c.*689A>C, NM_001286476.2:c.*406A>T, NM_001286476.2:c.*406A>C, NM_001286476.1:c.*407A>T, NM_001286476.1:c.*407A>C, NM_001286477.2:c.*689A>T, NM_001286477.2:c.*689A>C, NM_001286477.1:c.*690A>T, NM_001286477.1:c.*690A>C, XM_017028393.2:c.*689A>T, XM_017028393.2:c.*689A>C, XM_017028393.1:c.*689A>T, XM_017028393.1:c.*689A>C, XM_017028392.2:c.*689A>T, XM_017028392.2:c.*689A>C, XM_017028392.1:c.*689A>T, XM_017028392.1:c.*689A>C, NM_199071.2:c.*1304A>T, NM_199071.2:c.*1304A>C, XM_047440892.1:c.*689A>T, XM_047440892.1:c.*689A>C, NM_199071.1:c.*1301A>T, NM_199071.1:c.*1301A>C, XM_047440893.1:c.*406A>T, XM_047440893.1:c.*406A>C, XM_047440895.1:c.*689A>T, XM_047440895.1:c.*689A>C, NM_001286463.1:c.*690A>T, NM_001286463.1:c.*690A>C

Select item 146847659812.

rs1468476598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:46314734 (GRCh38)
21:47734648 (GRCh37)
Canonical SPDI:: NC_000021.9:46314733:T:C
Gene:: C21orf58 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.46314734T>C, NC_000021.8:g.47734648T>C, XM_005261148.6:c.591A>G, XM_005261148.5:c.591A>G, XM_005261148.4:c.591A>G, XM_005261148.3:c.591A>G, XM_005261148.2:c.591A>G, XM_005261148.1:c.591A>G, NM_058180.5:c.591A>G, NM_058180.4:c.591A>G, NM_058180.3:c.591A>G, XM_006724018.5:c.591A>G, XM_006724018.4:c.591A>G, XM_006724018.3:c.591A>G, XM_006724018.2:c.591A>G, XM_006724018.1:c.591A>G, XM_011529619.4:c.591A>G, XM_011529619.3:c.591A>G, XM_011529619.2:c.591A>G, XM_011529619.1:c.591A>G, XM_011529620.4:c.591A>G, XM_011529620.3:c.591A>G, XM_011529620.2:c.591A>G, XM_011529620.1:c.591A>G, XM_011529623.4:c.510A>G, XM_011529623.3:c.510A>G, XM_011529623.2:c.510A>G, XM_011529623.1:c.510A>G, XM_011529624.3:c.396A>G, XM_011529624.2:c.396A>G, XM_011529624.1:c.396A>G, NM_001286476.2:c.273A>G, NM_001286476.1:c.273A>G, NM_001286477.2:c.273A>G, NM_001286477.1:c.273A>G, XM_017028393.2:c.273A>G, XM_017028393.1:c.273A>G, XM_017028392.2:c.273A>G, XM_017028392.1:c.273A>G, NM_001286462.2:c.273A>G, NM_001286462.1:c.273A>G, NM_199071.2:c.*519A>G, XM_047440892.1:c.588A>G, NM_199071.1:c.*517A>G, XM_047440893.1:c.588A>G, XM_047440895.1:c.342A>G, XM_047440896.1:c.*223A>G, XM_047440894.1:c.510A>G, NM_001286463.1:c.273A>G

Select item 146578624613.

rs1465786246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:46314774 (GRCh38)
21:47734688 (GRCh37)
Canonical SPDI:: NC_000021.9:46314773:A:G
Gene:: C21orf58 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
HGVS:: NC_000021.9:g.46314774A>G, NC_000021.8:g.47734688A>G, XM_005261148.6:c.551T>C, XM_005261148.5:c.551T>C, XM_005261148.4:c.551T>C, XM_005261148.3:c.551T>C, XM_005261148.2:c.551T>C, XM_005261148.1:c.551T>C, NM_058180.5:c.551T>C, NM_058180.4:c.551T>C, NM_058180.3:c.551T>C, XM_006724018.5:c.551T>C, XM_006724018.4:c.551T>C, XM_006724018.3:c.551T>C, XM_006724018.2:c.551T>C, XM_006724018.1:c.551T>C, XM_011529619.4:c.551T>C, XM_011529619.3:c.551T>C, XM_011529619.2:c.551T>C, XM_011529619.1:c.551T>C, XM_011529620.4:c.551T>C, XM_011529620.3:c.551T>C, XM_011529620.2:c.551T>C, XM_011529620.1:c.551T>C, XM_011529623.4:c.470T>C, XM_011529623.3:c.470T>C, XM_011529623.2:c.470T>C, XM_011529623.1:c.470T>C, XM_011529624.3:c.356T>C, XM_011529624.2:c.356T>C, XM_011529624.1:c.356T>C, NM_001286476.2:c.233T>C, NM_001286476.1:c.233T>C, NM_001286477.2:c.233T>C, NM_001286477.1:c.233T>C, XM_017028393.2:c.233T>C, XM_017028393.1:c.233T>C, XM_017028392.2:c.233T>C, XM_017028392.1:c.233T>C, NM_001286462.2:c.233T>C, NM_001286462.1:c.233T>C, NM_199071.2:c.*479T>C, XM_047440892.1:c.548T>C, NM_199071.1:c.*477T>C, XM_047440893.1:c.548T>C, XM_047440895.1:c.302T>C, XM_047440896.1:c.*183T>C, XM_047440894.1:c.470T>C, NM_001286463.1:c.233T>C, XP_005261205.1:p.Leu184Pro, NP_478060.2:p.Leu184Pro, XP_006724081.1:p.Leu184Pro, XP_011527921.1:p.Leu184Pro, XP_011527922.1:p.Leu184Pro, XP_011527925.1:p.Leu157Pro, XP_011527926.1:p.Leu119Pro, NP_001273405.1:p.Leu78Pro, NP_001273406.1:p.Leu78Pro, XP_016883882.1:p.Leu78Pro, XP_016883881.1:p.Leu78Pro, NP_001273391.1:p.Leu78Pro, XP_047296848.1:p.Leu183Pro, XP_047296849.1:p.Leu183Pro, XP_047296851.1:p.Leu101Pro, XP_047296850.1:p.Leu157Pro, NP_001273392.1:p.Leu78Pro

Select item 146460022014.

rs1464600220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:46314759 (GRCh38)
21:47734673 (GRCh37)
Canonical SPDI:: NC_000021.9:46314758:G:T
Gene:: C21orf58 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.46314759G>T, NC_000021.8:g.47734673G>T, XM_005261148.6:c.566C>A, XM_005261148.5:c.566C>A, XM_005261148.4:c.566C>A, XM_005261148.3:c.566C>A, XM_005261148.2:c.566C>A, XM_005261148.1:c.566C>A, NM_058180.5:c.566C>A, NM_058180.4:c.566C>A, NM_058180.3:c.566C>A, XM_006724018.5:c.566C>A, XM_006724018.4:c.566C>A, XM_006724018.3:c.566C>A, XM_006724018.2:c.566C>A, XM_006724018.1:c.566C>A, XM_011529619.4:c.566C>A, XM_011529619.3:c.566C>A, XM_011529619.2:c.566C>A, XM_011529619.1:c.566C>A, XM_011529620.4:c.566C>A, XM_011529620.3:c.566C>A, XM_011529620.2:c.566C>A, XM_011529620.1:c.566C>A, XM_011529623.4:c.485C>A, XM_011529623.3:c.485C>A, XM_011529623.2:c.485C>A, XM_011529623.1:c.485C>A, XM_011529624.3:c.371C>A, XM_011529624.2:c.371C>A, XM_011529624.1:c.371C>A, NM_001286476.2:c.248C>A, NM_001286476.1:c.248C>A, NM_001286477.2:c.248C>A, NM_001286477.1:c.248C>A, XM_017028393.2:c.248C>A, XM_017028393.1:c.248C>A, XM_017028392.2:c.248C>A, XM_017028392.1:c.248C>A, NM_001286462.2:c.248C>A, NM_001286462.1:c.248C>A, NM_199071.2:c.*494C>A, XM_047440892.1:c.563C>A, NM_199071.1:c.*492C>A, XM_047440893.1:c.563C>A, XM_047440895.1:c.317C>A, XM_047440896.1:c.*198C>A, XM_047440894.1:c.485C>A, NM_001286463.1:c.248C>A, XP_005261205.1:p.Pro189Gln, NP_478060.2:p.Pro189Gln, XP_006724081.1:p.Pro189Gln, XP_011527921.1:p.Pro189Gln, XP_011527922.1:p.Pro189Gln, XP_011527925.1:p.Pro162Gln, XP_011527926.1:p.Pro124Gln, NP_001273405.1:p.Pro83Gln, NP_001273406.1:p.Pro83Gln, XP_016883882.1:p.Pro83Gln, XP_016883881.1:p.Pro83Gln, NP_001273391.1:p.Pro83Gln, XP_047296848.1:p.Pro188Gln, XP_047296849.1:p.Pro188Gln, XP_047296851.1:p.Pro106Gln, XP_047296850.1:p.Pro162Gln, NP_001273392.1:p.Pro83Gln

Select item 146432891415.

rs1464328914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:46301942 (GRCh38)
21:47721856 (GRCh37)
Canonical SPDI:: NC_000021.9:46301941:G:A
Gene:: C21orf58 (Varview), YBEY (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.46301942G>A, NC_000021.8:g.47721856G>A, NM_058180.5:c.*57C>T, NM_058180.4:c.*57C>T, NM_058180.3:c.*57C>T, XM_011529623.4:c.*57C>T, XM_011529623.3:c.*57C>T, XM_011529623.2:c.*57C>T, XM_011529623.1:c.*57C>T, XM_011529624.3:c.*57C>T, XM_011529624.2:c.*57C>T, XM_011529624.1:c.*57C>T, NM_001286477.2:c.*57C>T, NM_001286477.1:c.*57C>T, XM_017028393.2:c.*57C>T, XM_017028393.1:c.*57C>T, XM_017028392.2:c.*57C>T, XM_017028392.1:c.*57C>T, XM_047440892.1:c.*57C>T, XM_047440895.1:c.*57C>T, NM_001286463.1:c.*57C>T

Select item 146422985416.

rs1464229854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:46311460 (GRCh38)
21:47731374 (GRCh37)
Canonical SPDI:: NC_000021.9:46311459:C:T
Gene:: C21orf58 (Varview), YBEY (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.46311460C>T, NC_000021.8:g.47731374C>T, XM_005261148.6:c.717G>A, XM_005261148.5:c.717G>A, XM_005261148.4:c.717G>A, XM_005261148.3:c.717G>A, XM_005261148.2:c.717G>A, XM_005261148.1:c.717G>A, NM_058180.5:c.717G>A, NM_058180.4:c.717G>A, NM_058180.3:c.717G>A, XM_006724018.5:c.717G>A, XM_006724018.4:c.717G>A, XM_006724018.3:c.717G>A, XM_006724018.2:c.717G>A, XM_006724018.1:c.717G>A, XM_011529619.4:c.717G>A, XM_011529619.3:c.717G>A, XM_011529619.2:c.717G>A, XM_011529619.1:c.717G>A, XM_011529620.4:c.717G>A, XM_011529620.3:c.717G>A, XM_011529620.2:c.717G>A, XM_011529620.1:c.717G>A, XM_011529623.4:c.636G>A, XM_011529623.3:c.636G>A, XM_011529623.2:c.636G>A, XM_011529623.1:c.636G>A, XM_011529624.3:c.522G>A, XM_011529624.2:c.522G>A, XM_011529624.1:c.522G>A, NM_001286476.2:c.399G>A, NM_001286476.1:c.399G>A, NM_001286477.2:c.399G>A, NM_001286477.1:c.399G>A, XM_017028393.2:c.399G>A, XM_017028393.1:c.399G>A, XM_017028392.2:c.399G>A, XM_017028392.1:c.399G>A, NM_001286462.2:c.399G>A, NM_001286462.1:c.399G>A, NM_199071.2:c.*645G>A, XM_047440892.1:c.714G>A, NM_199071.1:c.*643G>A, XM_047440893.1:c.714G>A, XM_047440895.1:c.468G>A, XM_047440894.1:c.636G>A, NM_001286463.1:c.399G>A

Select item 146230830017.

rs1462308300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:46318067 (GRCh38)
21:47737981 (GRCh37)
Canonical SPDI:: NC_000021.9:46318066:A:G
Gene:: C21orf58 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.46318067A>G, NC_000021.8:g.47737981A>G, XM_005261148.6:c.254T>C, XM_005261148.5:c.254T>C, XM_005261148.4:c.254T>C, XM_005261148.3:c.254T>C, XM_005261148.2:c.254T>C, XM_005261148.1:c.254T>C, NM_058180.5:c.254T>C, NM_058180.4:c.254T>C, NM_058180.3:c.254T>C, XM_006724018.5:c.254T>C, XM_006724018.4:c.254T>C, XM_006724018.3:c.254T>C, XM_006724018.2:c.254T>C, XM_006724018.1:c.254T>C, XM_011529619.4:c.254T>C, XM_011529619.3:c.254T>C, XM_011529619.2:c.254T>C, XM_011529619.1:c.254T>C, XM_011529620.4:c.254T>C, XM_011529620.3:c.254T>C, XM_011529620.2:c.254T>C, XM_011529620.1:c.254T>C, XM_011529623.4:c.173T>C, XM_011529623.3:c.173T>C, XM_011529623.2:c.173T>C, XM_011529623.1:c.173T>C, XM_011529624.3:c.-195T>C, XM_011529624.2:c.-195T>C, XM_011529624.1:c.-195T>C, XM_011529628.3:c.254T>C, XM_011529628.2:c.254T>C, XM_011529628.1:c.254T>C, NM_001286476.2:c.-314T>C, NM_001286476.1:c.-314T>C, NM_001286477.2:c.-234T>C, NM_001286477.1:c.-234T>C, XM_017028393.2:c.-606T>C, XM_017028393.1:c.-606T>C, XM_017028392.2:c.-433T>C, XM_017028392.1:c.-433T>C, NM_001286462.2:c.-314T>C, NM_001286462.1:c.-314T>C, NM_199071.2:c.254T>C, XM_047440892.1:c.254T>C, NM_199071.1:c.254T>C, XM_047440893.1:c.254T>C, XM_047440895.1:c.5T>C, XM_047440896.1:c.254T>C, XM_047440894.1:c.173T>C, NM_001286463.1:c.-314T>C, XP_005261205.1:p.Leu85Pro, NP_478060.2:p.Leu85Pro, XP_006724081.1:p.Leu85Pro, XP_011527921.1:p.Leu85Pro, XP_011527922.1:p.Leu85Pro, XP_011527925.1:p.Leu58Pro, XP_011527930.1:p.Leu85Pro, XP_047296848.1:p.Leu85Pro, XP_047296849.1:p.Leu85Pro, XP_047296851.1:p.Leu2Pro, XP_047296852.1:p.Leu85Pro, XP_047296850.1:p.Leu58Pro

Select item 146116968618.

rs1461169686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:46302108 (GRCh38)
21:47722022 (GRCh37)
Canonical SPDI:: NC_000021.9:46302107:C:T
Gene:: C21orf58 (Varview), YBEY (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.46302108C>T, NC_000021.8:g.47722022C>T, XM_005261148.6:c.860G>A, XM_005261148.5:c.860G>A, XM_005261148.4:c.860G>A, XM_005261148.3:c.860G>A, XM_005261148.2:c.860G>A, XM_005261148.1:c.860G>A, NM_058180.5:c.860G>A, NM_058180.4:c.860G>A, NM_058180.3:c.860G>A, XM_011529619.4:c.860G>A, XM_011529619.3:c.860G>A, XM_011529619.2:c.860G>A, XM_011529619.1:c.860G>A, XM_011529620.4:c.860G>A, XM_011529620.3:c.860G>A, XM_011529620.2:c.860G>A, XM_011529620.1:c.860G>A, XM_011529623.4:c.779G>A, XM_011529623.3:c.779G>A, XM_011529623.2:c.779G>A, XM_011529623.1:c.779G>A, XM_011529624.3:c.665G>A, XM_011529624.2:c.665G>A, XM_011529624.1:c.665G>A, NM_001286476.2:c.542G>A, NM_001286476.1:c.542G>A, NM_001286477.2:c.542G>A, NM_001286477.1:c.542G>A, XM_017028393.2:c.542G>A, XM_017028393.1:c.542G>A, XM_017028392.2:c.542G>A, XM_017028392.1:c.542G>A, NM_001286462.2:c.542G>A, NM_001286462.1:c.542G>A, NM_199071.2:c.*788G>A, XM_047440892.1:c.857G>A, NM_199071.1:c.*786G>A, XM_047440893.1:c.857G>A, XM_047440895.1:c.611G>A, NM_001286463.1:c.542G>A, XP_005261205.1:p.Arg287Lys, NP_478060.2:p.Arg287Lys, XP_011527921.1:p.Arg287Lys, XP_011527922.1:p.Arg287Lys, XP_011527925.1:p.Arg260Lys, XP_011527926.1:p.Arg222Lys, NP_001273405.1:p.Arg181Lys, NP_001273406.1:p.Arg181Lys, XP_016883882.1:p.Arg181Lys, XP_016883881.1:p.Arg181Lys, NP_001273391.1:p.Arg181Lys, XP_047296848.1:p.Arg286Lys, XP_047296849.1:p.Arg286Lys, XP_047296851.1:p.Arg204Lys, NP_001273392.1:p.Arg181Lys

Select item 145785490319.

rs1457854903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:46315519 (GRCh38)
21:47735433 (GRCh37)
Canonical SPDI:: NC_000021.9:46315518:C:T
Gene:: C21orf58 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.46315519C>T, NC_000021.8:g.47735433C>T, XM_005261148.6:c.399G>A, XM_005261148.5:c.399G>A, XM_005261148.4:c.399G>A, XM_005261148.3:c.399G>A, XM_005261148.2:c.399G>A, XM_005261148.1:c.399G>A, NM_058180.5:c.399G>A, NM_058180.4:c.399G>A, NM_058180.3:c.399G>A, XM_006724018.5:c.399G>A, XM_006724018.4:c.399G>A, XM_006724018.3:c.399G>A, XM_006724018.2:c.399G>A, XM_006724018.1:c.399G>A, XM_011529619.4:c.399G>A, XM_011529619.3:c.399G>A, XM_011529619.2:c.399G>A, XM_011529619.1:c.399G>A, XM_011529620.4:c.399G>A, XM_011529620.3:c.399G>A, XM_011529620.2:c.399G>A, XM_011529620.1:c.399G>A, XM_011529623.4:c.318G>A, XM_011529623.3:c.318G>A, XM_011529623.2:c.318G>A, XM_011529623.1:c.318G>A, XM_011529624.3:c.204G>A, XM_011529624.2:c.204G>A, XM_011529624.1:c.204G>A, XM_011529628.3:c.*22G>A, XM_011529628.2:c.*22G>A, XM_011529628.1:c.*22G>A, NM_001286476.2:c.-89G>A, NM_001286476.1:c.-89G>A, NM_001286477.2:c.-89G>A, NM_001286477.1:c.-89G>A, XM_017028393.2:c.-89G>A, XM_017028393.1:c.-89G>A, XM_017028392.2:c.-89G>A, XM_017028392.1:c.-89G>A, NM_001286462.2:c.-89G>A, NM_001286462.1:c.-89G>A, NM_199071.2:c.*158G>A, XM_047440892.1:c.396G>A, NM_199071.1:c.*158G>A, XM_047440893.1:c.396G>A, XM_047440895.1:c.150G>A, XM_047440896.1:c.399G>A, XM_047440894.1:c.318G>A, NM_001286463.1:c.-89G>A

Select item 145748888720.

rs1457488887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:46301704 (GRCh38)
21:47721618 (GRCh37)
Canonical SPDI:: NC_000021.9:46301703:C:T
Gene:: C21orf58 (Varview), YBEY (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000021.9:g.46301704C>T, NC_000021.8:g.47721618C>T, XM_005261148.6:c.*12G>A, XM_005261148.5:c.*12G>A, XM_005261148.4:c.*12G>A, XM_005261148.3:c.*12G>A, XM_005261148.2:c.*12G>A, XM_005261148.1:c.*12G>A, NM_058180.5:c.*295G>A, NM_058180.4:c.*295G>A, NM_058180.3:c.*295G>A, XM_011529623.4:c.*295G>A, XM_011529623.3:c.*295G>A, XM_011529623.2:c.*295G>A, XM_011529623.1:c.*295G>A, XM_011529624.3:c.*295G>A, XM_011529624.2:c.*295G>A, XM_011529624.1:c.*295G>A, NM_001286476.2:c.*12G>A, NM_001286476.1:c.*12G>A, NM_001286477.2:c.*295G>A, NM_001286477.1:c.*295G>A, XM_017028393.2:c.*295G>A, XM_017028393.1:c.*295G>A, XM_017028392.2:c.*295G>A, XM_017028392.1:c.*295G>A, NM_199071.2:c.*909G>A, XM_047440892.1:c.*295G>A, NM_199071.1:c.*907G>A, XM_047440893.1:c.*12G>A, XM_047440895.1:c.*295G>A, NM_001286463.1:c.*295G>A

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