SNP Links for Gene (Select 1650) - SNP

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Select item 14915629041.

rs1491562904 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGT [Show Flanks]
Chromosome:: 1:20651848 (GRCh38)
1:20978342 (GRCh37)
Canonical SPDI:: NC_000001.11:20651848:GAGT:GAGTGAGT
Gene:: DDOST (Varview), PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GAGTGAGT=0./0 (ALFA)
GAGT=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.20651849_20651852dup, NC_000001.10:g.20978342_20978345dup, NG_008164.1:g.23395_23398dup, NG_032064.1:g.14693_14696dup, NM_005216.5:c.*527_*530dup, NM_005216.4:c.*527_*530dup, NR_046507.1:n.342_345dup

Select item 14914746322.

rs1491474632 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:20655172 (GRCh38)
1:20981666 (GRCh37)
Canonical SPDI:: NC_000001.11:20655172::C
Gene:: DDOST (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.20655172_20655173insC, NC_000001.10:g.20981665_20981666insC, NG_032064.1:g.11372_11373insG

Select item 14914596003.

rs1491459600 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:20651850 (GRCh38)
1:20978343 (GRCh37)
Canonical SPDI:: NC_000001.11:20651847:AGAG:AG
Gene:: DDOST (Varview), PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.20651848AG[1], NC_000001.10:g.20978341AG[1], NG_008164.1:g.23394AG[1], NG_032064.1:g.14694CT[1], NM_005216.5:c.*528CT[1], NM_005216.4:c.*528CT[1], NR_046507.1:n.343CT[1]

Select item 14912536754.

rs1491253675 has merged into rs869053335 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:20655181 (GRCh38)
1:20981674 (GRCh37)
Canonical SPDI:: NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20655171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DDOST (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.20655181_20655195del, NC_000001.11:g.20655184_20655195del, NC_000001.11:g.20655185_20655195del, NC_000001.11:g.20655186_20655195del, NC_000001.11:g.20655187_20655195del, NC_000001.11:g.20655188_20655195del, NC_000001.11:g.20655189_20655195del, NC_000001.11:g.20655190_20655195del, NC_000001.11:g.20655191_20655195del, NC_000001.11:g.20655192_20655195del, NC_000001.11:g.20655193_20655195del, NC_000001.11:g.20655194_20655195del, NC_000001.11:g.20655195del, NC_000001.11:g.20655195dup, NC_000001.11:g.20655194_20655195dup, NC_000001.11:g.20655193_20655195dup, NC_000001.11:g.20655192_20655195dup, NC_000001.11:g.20655191_20655195dup, NC_000001.11:g.20655190_20655195dup, NC_000001.11:g.20655189_20655195dup, NC_000001.11:g.20655188_20655195dup, NC_000001.11:g.20655187_20655195dup, NC_000001.11:g.20655186_20655195dup, NC_000001.11:g.20655183_20655195dup, NC_000001.10:g.20981674_20981688del, NC_000001.10:g.20981677_20981688del, NC_000001.10:g.20981678_20981688del, NC_000001.10:g.20981679_20981688del, NC_000001.10:g.20981680_20981688del, NC_000001.10:g.20981681_20981688del, NC_000001.10:g.20981682_20981688del, NC_000001.10:g.20981683_20981688del, NC_000001.10:g.20981684_20981688del, NC_000001.10:g.20981685_20981688del, NC_000001.10:g.20981686_20981688del, NC_000001.10:g.20981687_20981688del, NC_000001.10:g.20981688del, NC_000001.10:g.20981688dup, NC_000001.10:g.20981687_20981688dup, NC_000001.10:g.20981686_20981688dup, NC_000001.10:g.20981685_20981688dup, NC_000001.10:g.20981684_20981688dup, NC_000001.10:g.20981683_20981688dup, NC_000001.10:g.20981682_20981688dup, NC_000001.10:g.20981681_20981688dup, NC_000001.10:g.20981680_20981688dup, NC_000001.10:g.20981679_20981688dup, NC_000001.10:g.20981676_20981688dup, NG_032064.1:g.11359_11373del, NG_032064.1:g.11362_11373del, NG_032064.1:g.11363_11373del, NG_032064.1:g.11364_11373del, NG_032064.1:g.11365_11373del, NG_032064.1:g.11366_11373del, NG_032064.1:g.11367_11373del, NG_032064.1:g.11368_11373del, NG_032064.1:g.11369_11373del, NG_032064.1:g.11370_11373del, NG_032064.1:g.11371_11373del, NG_032064.1:g.11372_11373del, NG_032064.1:g.11373del, NG_032064.1:g.11373dup, NG_032064.1:g.11372_11373dup, NG_032064.1:g.11371_11373dup, NG_032064.1:g.11370_11373dup, NG_032064.1:g.11369_11373dup, NG_032064.1:g.11368_11373dup, NG_032064.1:g.11367_11373dup, NG_032064.1:g.11366_11373dup, NG_032064.1:g.11365_11373dup, NG_032064.1:g.11364_11373dup, NG_032064.1:g.11361_11373dup

Select item 14912499505.

rs1491249950 has merged into rs1311048863 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 1:20651442 (GRCh38)
1:20977935 (GRCh37)
Canonical SPDI:: NC_000001.11:20651440:TTT:T,NC_000001.11:20651440:TTT:TTTTT
Gene:: DDOST (Varview), PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.20651442_20651443del, NC_000001.11:g.20651442_20651443dup, NC_000001.10:g.20977935_20977936del, NC_000001.10:g.20977935_20977936dup, NG_008164.1:g.22988_22989del, NG_008164.1:g.22988_22989dup, NM_032409.3:c.*751_*752del, NM_032409.3:c.*751_*752dup, NM_032409.2:c.*751_*752del, NM_032409.2:c.*751_*752dup, NG_032064.1:g.15103_15104del, NG_032064.1:g.15103_15104dup, NR_046507.1:n.752_753del, NR_046507.1:n.752_753dup

Select item 14909273186.

rs1490927318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20661813 (GRCh38)
1:20988306 (GRCh37)
Canonical SPDI:: NC_000001.11:20661812:C:T
Gene:: DDOST (Varview), KIF17 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.20661813C>T, NC_000001.10:g.20988306C>T, NG_032064.1:g.4732G>A, XR_007062426.1:n.3617G>A

Select item 14902682837.

rs1490268283 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GG [Show Flanks]
Chromosome:: 1:20655186 (GRCh38)
1:20981680 (GRCh37)
Canonical SPDI:: NC_000001.11:20655186::G,NC_000001.11:20655186::GG
Gene:: DDOST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.20655186_20655187insG, NC_000001.11:g.20655186_20655187insGG, NC_000001.10:g.20981679_20981680insG, NC_000001.10:g.20981679_20981680insGG, NG_032064.1:g.11358_11359insC, NG_032064.1:g.11358_11359insCC

Select item 14901725788.

rs1490172578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20661472 (GRCh38)
1:20987965 (GRCh37)
Canonical SPDI:: NC_000001.11:20661471:G:A
Gene:: DDOST (Varview), KIF17 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.20661472G>A, NC_000001.10:g.20987965G>A, NG_032064.1:g.5073C>T, NM_005216.4:c.-71C>T

Select item 14901444139.

rs1490144413 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:20662124 (GRCh38)
1:20988617 (GRCh37)
Canonical SPDI:: NC_000001.11:20662123:G:
Gene:: DDOST (Varview), KIF17 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.004673/1 (Vietnamese)
HGVS:: NC_000001.11:g.20662124del, NC_000001.10:g.20988617del, NG_032064.1:g.4421del, XM_047426148.1:c.*182del, XM_047426149.1:c.*182del, XM_047426150.1:c.*193del, XM_047426153.1:c.*182del, XM_047426154.1:c.*182del, XM_047426155.1:c.*193del

Select item 148963760110.

rs1489637601 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20662770 (GRCh38)
1:20989263 (GRCh37)
Canonical SPDI:: NC_000001.11:20662769:T:C
Gene:: DDOST (Varview), KIF17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.20662770T>C, NC_000001.10:g.20989263T>C, NG_032064.1:g.3775A>G

Select item 148938582311.

rs1489385823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:20656343 (GRCh38)
1:20982836 (GRCh37)
Canonical SPDI:: NC_000001.11:20656342:T:A
Gene:: DDOST (Varview)
Functional Consequence:: 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_000001.11:g.20656343T>A, NC_000001.10:g.20982836T>A, NG_032064.1:g.10202A>T

Select item 148925815112.

rs1489258151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20659188 (GRCh38)
1:20985681 (GRCh37)
Canonical SPDI:: NC_000001.11:20659187:T:C
Gene:: DDOST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.20659188T>C, NC_000001.10:g.20985681T>C, NG_032064.1:g.7357A>G

Select item 148910662713.

rs1489106627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:20655630 (GRCh38)
1:20982123 (GRCh37)
Canonical SPDI:: NC_000001.11:20655629:C:G,NC_000001.11:20655629:C:T
Gene:: DDOST (Varview)
Functional Consequence:: intron_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_000001.11:g.20655630C>G, NC_000001.11:g.20655630C>T, NC_000001.10:g.20982123C>G, NC_000001.10:g.20982123C>T, NG_032064.1:g.10915G>C, NG_032064.1:g.10915G>A

Select item 148883817414.

rs1488838174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20652497 (GRCh38)
1:20978990 (GRCh37)
Canonical SPDI:: NC_000001.11:20652496:T:C
Gene:: DDOST (Varview), PINK1-AS (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20652497T>C, NC_000001.10:g.20978990T>C, NG_008164.1:g.24043T>C, NG_032064.1:g.14048A>G, NM_005216.5:c.1202A>G, NM_005216.4:c.1253A>G, NP_005207.3:p.Tyr401Cys

Select item 148821466915.

rs1488214669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:20663022 (GRCh38)
1:20989515 (GRCh37)
Canonical SPDI:: NC_000001.11:20663021:G:A,NC_000001.11:20663021:G:C
Gene:: DDOST (Varview), KIF17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.20663022G>A, NC_000001.11:g.20663022G>C, NC_000001.10:g.20989515G>A, NC_000001.10:g.20989515G>C, NG_032064.1:g.3523C>T, NG_032064.1:g.3523C>G

Select item 148794240116.

rs1487942401 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAG>- [Show Flanks]
Chromosome:: 1:20663128 (GRCh38)
1:20989621 (GRCh37)
Canonical SPDI:: NC_000001.11:20663125:AGACAG:AG
Gene:: DDOST (Varview), KIF17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.20663128_20663131del, NC_000001.10:g.20989621_20989624del, NG_032064.1:g.3416_3419del

Select item 148767311017.

rs1487673110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20660646 (GRCh38)
1:20987139 (GRCh37)
Canonical SPDI:: NC_000001.11:20660645:T:C
Gene:: DDOST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000142/2 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.001027/3 (KOREAN)
HGVS:: NC_000001.11:g.20660646T>C, NC_000001.10:g.20987139T>C, NG_032064.1:g.5899A>G

Select item 148745115118.

rs1487451151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:20661254 (GRCh38)
1:20987747 (GRCh37)
Canonical SPDI:: NC_000001.11:20661253:G:A,NC_000001.11:20661253:G:C
Gene:: DDOST (Varview), KIF17 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20661254G>A, NC_000001.11:g.20661254G>C, NC_000001.10:g.20987747G>A, NC_000001.10:g.20987747G>C, NG_032064.1:g.5291C>T, NG_032064.1:g.5291C>G, NM_005216.5:c.97C>T, NM_005216.5:c.97C>G, NM_005216.4:c.148C>T, NM_005216.4:c.148C>G, NP_005207.3:p.Leu33Val

Select item 148733086619.

rs1487330866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:20660322 (GRCh38)
1:20986815 (GRCh37)
Canonical SPDI:: NC_000001.11:20660321:A:C
Gene:: DDOST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.20660322A>C, NC_000001.10:g.20986815A>C, NG_032064.1:g.6223T>G

Select item 148724059420.

rs1487240594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20661929 (GRCh38)
1:20988422 (GRCh37)
Canonical SPDI:: NC_000001.11:20661928:T:C
Gene:: DDOST (Varview), KIF17 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.20661929T>C, NC_000001.10:g.20988422T>C, NG_032064.1:g.4616A>G

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