SNP Links for Gene (Select 55809) - SNP

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Select item 14915810811.

rs1491581081 has merged into rs10557615 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 6:42432854 (GRCh38)
6:42400592 (GRCh37)
Canonical SPDI:: NC_000006.12:42432842:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:42432842:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:42432842:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:42432842:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:42432842:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:42432842:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:42432842:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:42432842:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.488/2444 (1000Genomes)
HGVS:: NC_000006.12:g.42432854_42432861del, NC_000006.12:g.42432857_42432861del, NC_000006.12:g.42432858_42432861del, NC_000006.12:g.42432859_42432861del, NC_000006.12:g.42432860_42432861del, NC_000006.12:g.42432861del, NC_000006.12:g.42432861dup, NC_000006.12:g.42432860_42432861dup, NC_000006.11:g.42400592_42400599del, NC_000006.11:g.42400595_42400599del, NC_000006.11:g.42400596_42400599del, NC_000006.11:g.42400597_42400599del, NC_000006.11:g.42400598_42400599del, NC_000006.11:g.42400599del, NC_000006.11:g.42400599dup, NC_000006.11:g.42400598_42400599dup

Select item 14915783372.

rs1491578337 has merged into rs201333864 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 6:42379126 (GRCh38)
6:42346864 (GRCh37)
Canonical SPDI:: NC_000006.12:42379119:AAAAAAAAA:AAAAAA,NC_000006.12:42379119:AAAAAAAAA:AAAAAAA,NC_000006.12:42379119:AAAAAAAAA:AAAAAAAA,NC_000006.12:42379119:AAAAAAAAA:AAAAAAAAAA
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
-=0.000177/3 (TOMMO)
-=0.055/33 (NorthernSweden)
-=0.070089/314 (Estonian)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000006.12:g.42379126_42379128del, NC_000006.12:g.42379127_42379128del, NC_000006.12:g.42379128del, NC_000006.12:g.42379128dup, NC_000006.11:g.42346864_42346866del, NC_000006.11:g.42346865_42346866del, NC_000006.11:g.42346866del, NC_000006.11:g.42346866dup

Select item 14915525113.

rs1491552511 has merged into rs58223539 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 6:42238854 (GRCh38)
6:42206592 (GRCh37)
Canonical SPDI:: NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000006.12:42238835:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000006.12:g.42238836CA[9], NC_000006.12:g.42238836CA[11], NC_000006.12:g.42238836CA[12], NC_000006.12:g.42238836CA[13], NC_000006.12:g.42238836CA[14], NC_000006.12:g.42238836CA[15], NC_000006.12:g.42238836CA[16], NC_000006.12:g.42238836CA[17], NC_000006.12:g.42238836CA[19], NC_000006.12:g.42238836CA[20], NC_000006.12:g.42238836CA[21], NC_000006.12:g.42238836CA[22], NC_000006.12:g.42238836CA[23], NC_000006.12:g.42238836CA[24], NC_000006.12:g.42238836CA[25], NC_000006.12:g.42238836CA[26], NC_000006.12:g.42238836CA[27], NC_000006.12:g.42238836CA[28], NC_000006.11:g.42206574CA[9], NC_000006.11:g.42206574CA[11], NC_000006.11:g.42206574CA[12], NC_000006.11:g.42206574CA[13], NC_000006.11:g.42206574CA[14], NC_000006.11:g.42206574CA[15], NC_000006.11:g.42206574CA[16], NC_000006.11:g.42206574CA[17], NC_000006.11:g.42206574CA[19], NC_000006.11:g.42206574CA[20], NC_000006.11:g.42206574CA[21], NC_000006.11:g.42206574CA[22], NC_000006.11:g.42206574CA[23], NC_000006.11:g.42206574CA[24], NC_000006.11:g.42206574CA[25], NC_000006.11:g.42206574CA[26], NC_000006.11:g.42206574CA[27], NC_000006.11:g.42206574CA[28]

Select item 14915176364.

rs1491517636 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:42360770 (GRCh38)
6:42328509 (GRCh37)
Canonical SPDI:: NC_000006.12:42360770::A,NC_000006.12:42360770::AA,NC_000006.12:42360770::AAA,NC_000006.12:42360770::AAAA,NC_000006.12:42360770::AAAAA,NC_000006.12:42360770::AAAAAA,NC_000006.12:42360770::AAAAAAA,NC_000006.12:42360770::AAAAAAAA,NC_000006.12:42360770::AAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAAAAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360770::AAAAAAAAAAAAAAAAAAAAAAA
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000006.12:g.42360770_42360771insA, NC_000006.12:g.42360770_42360771insAA, NC_000006.12:g.42360770_42360771insAAA, NC_000006.12:g.42360770_42360771insAAAA, NC_000006.12:g.42360770_42360771insAAAAA, NC_000006.12:g.42360770_42360771insAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.42360770_42360771insAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.42328508_42328509insA, NC_000006.11:g.42328508_42328509insAA, NC_000006.11:g.42328508_42328509insAAA, NC_000006.11:g.42328508_42328509insAAAA, NC_000006.11:g.42328508_42328509insAAAAA, NC_000006.11:g.42328508_42328509insAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.42328508_42328509insAAAAAAAAAAAAAAAAAAAAAAA, NM_199220.1:c.*1588_*1589insA, NM_199220.1:c.*1588_*1589insAA, NM_199220.1:c.*1588_*1589insAAA, NM_199220.1:c.*1588_*1589insAAAA, NM_199220.1:c.*1588_*1589insAAAAA, NM_199220.1:c.*1588_*1589insAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAAAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAAAAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAAAAAAAAAAAAAA, NM_199220.1:c.*1588_*1589insAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915117965.

rs1491511796 has merged into rs397749940 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 6:42334026 (GRCh38)
6:42301764 (GRCh37)
Canonical SPDI:: NC_000006.12:42334025:CG:
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.006238/74 (ALFA)
-=0.006589/33 (1000Genomes)
-=0.007574/1010 (GnomAD)
HGVS:: NC_000006.12:g.42334026_42334027del, NC_000006.11:g.42301764_42301765del

Select item 14915077716.

rs1491507771 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:42238835 (GRCh38)
6:42206573 (GRCh37)
Canonical SPDI:: NC_000006.12:42238834:TC:
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00135/16 (ALFA)
-=0.00269/176 (GnomAD)
HGVS:: NC_000006.12:g.42238835_42238836del, NC_000006.11:g.42206573_42206574del

Select item 14914997247.

rs1491499724 has merged into rs3075920 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 6:42434690 (GRCh38)
6:42402428 (GRCh37)
Canonical SPDI:: NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:42434668:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACAC=0./0 (ALFA)
CACACA=0.2157/800 (TWINSUK)
CACACA=0.227/875 (ALSPAC)
HGVS:: NC_000006.12:g.42434670AC[10], NC_000006.12:g.42434670AC[11], NC_000006.12:g.42434670AC[12], NC_000006.12:g.42434670AC[13], NC_000006.12:g.42434670AC[14], NC_000006.12:g.42434670AC[15], NC_000006.12:g.42434670AC[16], NC_000006.12:g.42434670AC[17], NC_000006.12:g.42434670AC[18], NC_000006.12:g.42434670AC[19], NC_000006.12:g.42434670AC[20], NC_000006.12:g.42434670AC[22], NC_000006.12:g.42434670AC[23], NC_000006.12:g.42434670AC[24], NC_000006.12:g.42434670AC[25], NC_000006.12:g.42434670AC[26], NC_000006.12:g.42434670AC[27], NC_000006.12:g.42434670AC[28], NC_000006.12:g.42434670AC[29], NC_000006.11:g.42402408AC[10], NC_000006.11:g.42402408AC[11], NC_000006.11:g.42402408AC[12], NC_000006.11:g.42402408AC[13], NC_000006.11:g.42402408AC[14], NC_000006.11:g.42402408AC[15], NC_000006.11:g.42402408AC[16], NC_000006.11:g.42402408AC[17], NC_000006.11:g.42402408AC[18], NC_000006.11:g.42402408AC[19], NC_000006.11:g.42402408AC[20], NC_000006.11:g.42402408AC[22], NC_000006.11:g.42402408AC[23], NC_000006.11:g.42402408AC[24], NC_000006.11:g.42402408AC[25], NC_000006.11:g.42402408AC[26], NC_000006.11:g.42402408AC[27], NC_000006.11:g.42402408AC[28], NC_000006.11:g.42402408AC[29]

Select item 14914987418.

rs1491498741 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:42436799 (GRCh38)
6:42404538 (GRCh37)
Canonical SPDI:: NC_000006.12:42436799:C:CC
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42436800dup, NC_000006.11:g.42404538dup

Select item 14914821469.

rs1491482146 has merged into rs55924002 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:42360785 (GRCh38)
6:42328523 (GRCh37)
Canonical SPDI:: NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42360771:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.42360785_42360802del, NC_000006.12:g.42360786_42360802del, NC_000006.12:g.42360787_42360802del, NC_000006.12:g.42360788_42360802del, NC_000006.12:g.42360789_42360802del, NC_000006.12:g.42360790_42360802del, NC_000006.12:g.42360791_42360802del, NC_000006.12:g.42360792_42360802del, NC_000006.12:g.42360793_42360802del, NC_000006.12:g.42360794_42360802del, NC_000006.12:g.42360795_42360802del, NC_000006.12:g.42360796_42360802del, NC_000006.12:g.42360797_42360802del, NC_000006.12:g.42360798_42360802del, NC_000006.12:g.42360799_42360802del, NC_000006.12:g.42360800_42360802del, NC_000006.12:g.42360801_42360802del, NC_000006.12:g.42360802del, NC_000006.12:g.42360802dup, NC_000006.12:g.42360801_42360802dup, NC_000006.12:g.42360800_42360802dup, NC_000006.12:g.42360799_42360802dup, NC_000006.12:g.42360798_42360802dup, NC_000006.12:g.42360797_42360802dup, NC_000006.12:g.42360792_42360802dup, NC_000006.11:g.42328523_42328540del, NC_000006.11:g.42328524_42328540del, NC_000006.11:g.42328525_42328540del, NC_000006.11:g.42328526_42328540del, NC_000006.11:g.42328527_42328540del, NC_000006.11:g.42328528_42328540del, NC_000006.11:g.42328529_42328540del, NC_000006.11:g.42328530_42328540del, NC_000006.11:g.42328531_42328540del, NC_000006.11:g.42328532_42328540del, NC_000006.11:g.42328533_42328540del, NC_000006.11:g.42328534_42328540del, NC_000006.11:g.42328535_42328540del, NC_000006.11:g.42328536_42328540del, NC_000006.11:g.42328537_42328540del, NC_000006.11:g.42328538_42328540del, NC_000006.11:g.42328539_42328540del, NC_000006.11:g.42328540del, NC_000006.11:g.42328540dup, NC_000006.11:g.42328539_42328540dup, NC_000006.11:g.42328538_42328540dup, NC_000006.11:g.42328537_42328540dup, NC_000006.11:g.42328536_42328540dup, NC_000006.11:g.42328535_42328540dup, NC_000006.11:g.42328530_42328540dup, NM_199220.1:c.*1603_*1620del, NM_199220.1:c.*1604_*1620del, NM_199220.1:c.*1605_*1620del, NM_199220.1:c.*1606_*1620del, NM_199220.1:c.*1607_*1620del, NM_199220.1:c.*1608_*1620del, NM_199220.1:c.*1609_*1620del, NM_199220.1:c.*1610_*1620del, NM_199220.1:c.*1611_*1620del, NM_199220.1:c.*1612_*1620del, NM_199220.1:c.*1613_*1620del, NM_199220.1:c.*1614_*1620del, NM_199220.1:c.*1615_*1620del, NM_199220.1:c.*1616_*1620del, NM_199220.1:c.*1617_*1620del, NM_199220.1:c.*1618_*1620del, NM_199220.1:c.*1619_*1620del, NM_199220.1:c.*1620del, NM_199220.1:c.*1620dup, NM_199220.1:c.*1619_*1620dup, NM_199220.1:c.*1618_*1620dup, NM_199220.1:c.*1617_*1620dup, NM_199220.1:c.*1616_*1620dup, NM_199220.1:c.*1615_*1620dup, NM_199220.1:c.*1610_*1620dup

Select item 149148113210.

rs1491481132 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:42436848 (GRCh38)
6:42404586 (GRCh37)
Canonical SPDI:: NC_000006.12:42436847:TG:
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.42436848_42436849del, NC_000006.11:g.42404586_42404587del

Select item 149147226611.

rs1491472266 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 6:42262609 (GRCh38)
6:42230347 (GRCh37)
Canonical SPDI:: NC_000006.12:42262608:CG:
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.02786/363 (TOMMO)
-=0.15047/14308 (GnomAD)
HGVS:: NC_000006.12:g.42262609_42262610del, NC_000006.11:g.42230347_42230348del

Select item 149147085712.

rs1491470857 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:42379119 (GRCh38)
6:42346857 (GRCh37)
Canonical SPDI:: NC_000006.12:42379118:CA:
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00025/35 (GnomAD)
HGVS:: NC_000006.12:g.42379119_42379120del, NC_000006.11:g.42346857_42346858del

Select item 149146827013.

rs1491468270 has merged into rs35651008 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:42357342 (GRCh38)
6:42325080 (GRCh37)
Canonical SPDI:: NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:42357328:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.42357342_42357353del, NC_000006.12:g.42357343_42357353del, NC_000006.12:g.42357344_42357353del, NC_000006.12:g.42357345_42357353del, NC_000006.12:g.42357346_42357353del, NC_000006.12:g.42357347_42357353del, NC_000006.12:g.42357350_42357353del, NC_000006.12:g.42357351_42357353del, NC_000006.12:g.42357352_42357353del, NC_000006.12:g.42357353del, NC_000006.12:g.42357353dup, NC_000006.12:g.42357352_42357353dup, NC_000006.12:g.42357351_42357353dup, NC_000006.12:g.42357350_42357353dup, NC_000006.12:g.42357349_42357353dup, NC_000006.12:g.42357343_42357353dup, NC_000006.12:g.42357342_42357353dup, NC_000006.12:g.42357336_42357353dup, NC_000006.12:g.42357353_42357354insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.42357353_42357354insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.42357353_42357354insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.42357353_42357354insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.42357329_42357353A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.42325080_42325091del, NC_000006.11:g.42325081_42325091del, NC_000006.11:g.42325082_42325091del, NC_000006.11:g.42325083_42325091del, NC_000006.11:g.42325084_42325091del, NC_000006.11:g.42325085_42325091del, NC_000006.11:g.42325088_42325091del, NC_000006.11:g.42325089_42325091del, NC_000006.11:g.42325090_42325091del, NC_000006.11:g.42325091del, NC_000006.11:g.42325091dup, NC_000006.11:g.42325090_42325091dup, NC_000006.11:g.42325089_42325091dup, NC_000006.11:g.42325088_42325091dup, NC_000006.11:g.42325087_42325091dup, NC_000006.11:g.42325081_42325091dup, NC_000006.11:g.42325080_42325091dup, NC_000006.11:g.42325074_42325091dup, NC_000006.11:g.42325091_42325092insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.42325091_42325092insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.42325091_42325092insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.42325091_42325092insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.42325067_42325091A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149146613114.

rs1491466131 has merged into rs70987593 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 6:42408229 (GRCh38)
6:42375967 (GRCh37)
Canonical SPDI:: NC_000006.12:42408227:TGTGTGTGTGT:T,NC_000006.12:42408227:TGTGTGTGTGT:TGT,NC_000006.12:42408227:TGTGTGTGTGT:TGTGT,NC_000006.12:42408227:TGTGTGTGTGT:TGTGTGT,NC_000006.12:42408227:TGTGTGTGTGT:TGTGTGTGT,NC_000006.12:42408227:TGTGTGTGTGT:TGTGTGTGTGTGT,NC_000006.12:42408227:TGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
TG=0.07619/16 (Vietnamese)
TG=0.15136/758 (1000Genomes)
HGVS:: NC_000006.12:g.42408229_42408238del, NC_000006.12:g.42408229GT[1], NC_000006.12:g.42408229GT[2], NC_000006.12:g.42408229GT[3], NC_000006.12:g.42408229GT[4], NC_000006.12:g.42408229GT[6], NC_000006.12:g.42408229GT[7], NC_000006.11:g.42375967_42375976del, NC_000006.11:g.42375967GT[1], NC_000006.11:g.42375967GT[2], NC_000006.11:g.42375967GT[3], NC_000006.11:g.42375967GT[4], NC_000006.11:g.42375967GT[6], NC_000006.11:g.42375967GT[7]

Select item 149146268215.

rs1491462682 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATATACATACTCGTGTGTGTAT,GTATATATACTCGTGTGTGTAT [Show Flanks]
Chromosome:: 6:42408314 (GRCh38)
6:42376053 (GRCh37)
Canonical SPDI:: NC_000006.12:42408314:GTGTGTGTAT:GTGTGTGTATGTATATATACATACTCGTGTGTGTAT,NC_000006.12:42408314:GTGTGTGTAT:GTGTGTGTATGTATATATACTCGTGTGTGTAT
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.42408315_42408324GT[4]ATGTATATATACATACTCGTGTGTGTAT[1], NC_000006.12:g.42408315_42408324GT[4]ATGTATATATACTCGTGTGTGTAT[1], NC_000006.11:g.42376053_42376062GT[4]ATGTATATATACATACTCGTGTGTGTAT[1], NC_000006.11:g.42376053_42376062GT[4]ATGTATATATACTCGTGTGTGTAT[1]

Select item 149145653516.

rs1491456535 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 6:42315707 (GRCh38)
6:42283446 (GRCh37)
Canonical SPDI:: NC_000006.12:42315707:C:CAC
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAC=0./0 (ALFA)
HGVS:: NC_000006.12:g.42315708_42315709insAC, NC_000006.11:g.42283446_42283447insAC

Select item 149144763217.

rs1491447632 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTCTT,CTT [Show Flanks]
Chromosome:: 6:42418267 (GRCh38)
6:42386006 (GRCh37)
Canonical SPDI:: NC_000006.12:42418267:TT:TTCTCTT,NC_000006.12:42418267:TT:TTCTT
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.42418269_42418270insCTCTT, NC_000006.12:g.42418269_42418270insCTT, NC_000006.11:g.42386007_42386008insCTCTT, NC_000006.11:g.42386007_42386008insCTT

Select item 149143915818.

rs1491439158 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:42374137 (GRCh38)
6:42341875 (GRCh37)
Canonical SPDI:: NC_000006.12:42374136:TA:
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.028663/340 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.42374137_42374138del, NC_000006.11:g.42341875_42341876del

Select item 149141866219.

rs1491418662 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATTT,T,TT,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 6:42418217 (GRCh38)
6:42385956 (GRCh37)
Canonical SPDI:: NC_000006.12:42418217::ATTT,NC_000006.12:42418217::T,NC_000006.12:42418217::TT,NC_000006.12:42418217::TTT,NC_000006.12:42418217::TTTT,NC_000006.12:42418217::TTTTT,NC_000006.12:42418217::TTTTTT
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000006.12:g.42418217_42418218insATTT, NC_000006.12:g.42418217_42418218insT, NC_000006.12:g.42418217_42418218insTT, NC_000006.12:g.42418217_42418218insTTT, NC_000006.12:g.42418217_42418218insTTTT, NC_000006.12:g.42418217_42418218insTTTTT, NC_000006.12:g.42418217_42418218insTTTTTT, NC_000006.11:g.42385955_42385956insATTT, NC_000006.11:g.42385955_42385956insT, NC_000006.11:g.42385955_42385956insTT, NC_000006.11:g.42385955_42385956insTTT, NC_000006.11:g.42385955_42385956insTTTT, NC_000006.11:g.42385955_42385956insTTTTT, NC_000006.11:g.42385955_42385956insTTTTTT

Select item 149141380520.

rs1491413805 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:42319812 (GRCh38)
6:42287550 (GRCh37)
Canonical SPDI:: NC_000006.12:42319811:CA:
Gene:: TRERF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.42319812_42319813del, NC_000006.11:g.42287550_42287551del

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