SNP Links for Gene (Select 11023) - SNP

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Select item 14915321381.

rs1491532138 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 10:117138095 (GRCh38)
10:118897606 (GRCh37)
Canonical SPDI:: NC_000010.11:117138094:GC:
Gene:: VAX1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00013/3 (ExAC)
HGVS:: NC_000010.11:g.117138095_117138096del, NC_000010.10:g.118897606_118897607del, NG_012317.1:g.5206_5207del, NM_199131.3:c.-40_-39del, NM_199131.2:c.-40_-39del, NM_001112704.2:c.-40_-39del, NM_001112704.1:c.-40_-39del

Select item 14914928922.

rs1491492892 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:117131200 (GRCh38)
10:118890711 (GRCh37)
Canonical SPDI:: NC_000010.11:117131199:AG:
Gene:: VAX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.117131200_117131201del, NC_000010.10:g.118890711_118890712del, NG_012317.1:g.12101_12102del, NM_199131.3:c.*1008_*1009del, NM_199131.2:c.*1008_*1009del

Select item 14914661443.

rs1491466144 [Homo sapiens]

Variant type:: SNV:
Alleles:: TC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14914462374.

rs1491446237 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:117131200 (GRCh38)
10:118890712 (GRCh37)
Canonical SPDI:: NC_000010.11:117131200:GGGGG:GGGGGG
Gene:: VAX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.117131205dup, NC_000010.10:g.118890716dup, NG_012317.1:g.12101dup, NM_199131.3:c.*1008dup, NM_199131.2:c.*1008dup

Select item 14913178105.

rs1491317810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 10:117129648 (GRCh38)
10:118889160 (GRCh37)
Canonical SPDI:: NC_000010.11:117129648:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: VAX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
HGVS:: NC_000010.11:g.117129649_117129677dup, NC_000010.10:g.118889160_118889188dup, NG_012317.1:g.13625_13653dup, NM_199131.3:c.*2532_*2560dup, NM_199131.2:c.*2532_*2560dup

Select item 14912929106.

rs1491292910 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA [Show Flanks]
Chromosome:: 10:117139196 (GRCh38)
10:118898708 (GRCh37)
Canonical SPDI:: NC_000010.11:117139196::A,NC_000010.11:117139196::AA,NC_000010.11:117139196::AAA
Gene:: VAX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AA=0.00485/137 (TOMMO)
HGVS:: NC_000010.11:g.117139196_117139197insA, NC_000010.11:g.117139196_117139197insAA, NC_000010.11:g.117139196_117139197insAAA, NC_000010.10:g.118898707_118898708insA, NC_000010.10:g.118898707_118898708insAA, NC_000010.10:g.118898707_118898708insAAA, NG_012317.1:g.4105_4106insT, NG_012317.1:g.4105_4106insTT, NG_012317.1:g.4105_4106insTTT

Select item 14912659697.

rs1491265969 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:117138126 (GRCh38)
10:118897637 (GRCh37)
Canonical SPDI:: NC_000010.11:117138125:AA:
Gene:: VAX1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.117138126_117138127del, NC_000010.10:g.118897637_118897638del, NG_012317.1:g.5175_5176del, NM_199131.3:c.-71_-70del, NM_199131.2:c.-71_-70del, NM_001112704.2:c.-71_-70del, NM_001112704.1:c.-71_-70del

Select item 14911967358.

rs1491196735 has merged into rs1443317614 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 10:117138118 (GRCh38)
10:118897629 (GRCh37)
Canonical SPDI:: NC_000010.11:117138110:GGGGGGGGGG:GGGGGGG,NC_000010.11:117138110:GGGGGGGGGG:GGGGGGGG,NC_000010.11:117138110:GGGGGGGGGG:GGGGGGGGG,NC_000010.11:117138110:GGGGGGGGGG:GGGGGGGGGGG,NC_000010.11:117138110:GGGGGGGGGG:GGGGGGGGGGGG,NC_000010.11:117138110:GGGGGGGGGG:GGGGGGGGGGGGG
Gene:: VAX1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000010.11:g.117138118_117138120del, NC_000010.11:g.117138119_117138120del, NC_000010.11:g.117138120del, NC_000010.11:g.117138120dup, NC_000010.11:g.117138119_117138120dup, NC_000010.11:g.117138118_117138120dup, NC_000010.10:g.118897629_118897631del, NC_000010.10:g.118897630_118897631del, NC_000010.10:g.118897631del, NC_000010.10:g.118897631dup, NC_000010.10:g.118897630_118897631dup, NC_000010.10:g.118897629_118897631dup, NG_012317.1:g.5189_5191del, NG_012317.1:g.5190_5191del, NG_012317.1:g.5191del, NG_012317.1:g.5191dup, NG_012317.1:g.5190_5191dup, NG_012317.1:g.5189_5191dup, NM_199131.3:c.-57_-55del, NM_199131.3:c.-56_-55del, NM_199131.3:c.-55del, NM_199131.3:c.-55dup, NM_199131.3:c.-56_-55dup, NM_199131.3:c.-57_-55dup, NM_199131.2:c.-57_-55del, NM_199131.2:c.-56_-55del, NM_199131.2:c.-55del, NM_199131.2:c.-55dup, NM_199131.2:c.-56_-55dup, NM_199131.2:c.-57_-55dup, NM_001112704.2:c.-57_-55del, NM_001112704.2:c.-56_-55del, NM_001112704.2:c.-55del, NM_001112704.2:c.-55dup, NM_001112704.2:c.-56_-55dup, NM_001112704.2:c.-57_-55dup, NM_001112704.1:c.-57_-55del, NM_001112704.1:c.-56_-55del, NM_001112704.1:c.-55del, NM_001112704.1:c.-55dup, NM_001112704.1:c.-56_-55dup, NM_001112704.1:c.-57_-55dup

Select item 14911225919.

rs1491122591 has merged into rs60617895 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 10:117129664 (GRCh38)
10:118889175 (GRCh37)
Canonical SPDI:: NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:117129647:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: VAX1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.4237/2122 (1000Genomes)
HGVS:: NC_000010.11:g.117129648GT[8], NC_000010.11:g.117129648GT[9], NC_000010.11:g.117129648GT[10], NC_000010.11:g.117129648GT[11], NC_000010.11:g.117129648GT[12], NC_000010.11:g.117129648GT[13], NC_000010.11:g.117129648GT[14], NC_000010.11:g.117129648GT[16], NC_000010.11:g.117129648GT[17], NC_000010.11:g.117129648GT[18], NC_000010.11:g.117129648GT[19], NC_000010.11:g.117129648GT[20], NC_000010.11:g.117129648GT[21], NC_000010.11:g.117129648GT[22], NC_000010.11:g.117129648GT[23], NC_000010.11:g.117129648GT[24], NC_000010.11:g.117129648GT[25], NC_000010.11:g.117129648GT[28], NC_000010.10:g.118889159GT[8], NC_000010.10:g.118889159GT[9], NC_000010.10:g.118889159GT[10], NC_000010.10:g.118889159GT[11], NC_000010.10:g.118889159GT[12], NC_000010.10:g.118889159GT[13], NC_000010.10:g.118889159GT[14], NC_000010.10:g.118889159GT[16], NC_000010.10:g.118889159GT[17], NC_000010.10:g.118889159GT[18], NC_000010.10:g.118889159GT[19], NC_000010.10:g.118889159GT[20], NC_000010.10:g.118889159GT[21], NC_000010.10:g.118889159GT[22], NC_000010.10:g.118889159GT[23], NC_000010.10:g.118889159GT[24], NC_000010.10:g.118889159GT[25], NC_000010.10:g.118889159GT[28], NG_012317.1:g.13625AC[8], NG_012317.1:g.13625AC[9], NG_012317.1:g.13625AC[10], NG_012317.1:g.13625AC[11], NG_012317.1:g.13625AC[12], NG_012317.1:g.13625AC[13], NG_012317.1:g.13625AC[14], NG_012317.1:g.13625AC[16], NG_012317.1:g.13625AC[17], NG_012317.1:g.13625AC[18], NG_012317.1:g.13625AC[19], NG_012317.1:g.13625AC[20], NG_012317.1:g.13625AC[21], NG_012317.1:g.13625AC[22], NG_012317.1:g.13625AC[23], NG_012317.1:g.13625AC[24], NG_012317.1:g.13625AC[25], NG_012317.1:g.13625AC[28], NM_199131.3:c.*2532AC[8], NM_199131.3:c.*2532AC[9], NM_199131.3:c.*2532AC[10], NM_199131.3:c.*2532AC[11], NM_199131.3:c.*2532AC[12], NM_199131.3:c.*2532AC[13], NM_199131.3:c.*2532AC[14], NM_199131.3:c.*2532AC[16], NM_199131.3:c.*2532AC[17], NM_199131.3:c.*2532AC[18], NM_199131.3:c.*2532AC[19], NM_199131.3:c.*2532AC[20], NM_199131.3:c.*2532AC[21], NM_199131.3:c.*2532AC[22], NM_199131.3:c.*2532AC[23], NM_199131.3:c.*2532AC[24], NM_199131.3:c.*2532AC[25], NM_199131.3:c.*2532AC[28], NM_199131.2:c.*2532AC[8], NM_199131.2:c.*2532AC[9], NM_199131.2:c.*2532AC[10], NM_199131.2:c.*2532AC[11], NM_199131.2:c.*2532AC[12], NM_199131.2:c.*2532AC[13], NM_199131.2:c.*2532AC[14], NM_199131.2:c.*2532AC[16], NM_199131.2:c.*2532AC[17], NM_199131.2:c.*2532AC[18], NM_199131.2:c.*2532AC[19], NM_199131.2:c.*2532AC[20], NM_199131.2:c.*2532AC[21], NM_199131.2:c.*2532AC[22], NM_199131.2:c.*2532AC[23], NM_199131.2:c.*2532AC[24], NM_199131.2:c.*2532AC[25], NM_199131.2:c.*2532AC[28]

Select item 149110845810.

rs1491108458 has merged into rs148359585 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 10:117138121 (GRCh38)
10:118897632 (GRCh37)
Canonical SPDI:: NC_000010.11:117138119:GCG:G
Gene:: VAX1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.2148/2548 (ALFA)
-=0.30316/4302 (TOMMO)
GC=0.40076/31975 (GnomAD)
HGVS:: NC_000010.11:g.117138121_117138122del, NC_000010.10:g.118897632_118897633del, NG_012317.1:g.5181_5182del, NM_199131.3:c.-65_-64del, NM_199131.2:c.-65_-64del, NM_001112704.2:c.-65_-64del, NM_001112704.1:c.-65_-64del

Select item 149109232311.

rs1491092323 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AAAAAGAGGAAAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 149105139912.

rs1491051399 [Homo sapiens]

Variant type:: SNV:
Alleles:: GT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149079616513.

rs1490796165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:117136054 (GRCh38)
10:118895565 (GRCh37)
Canonical SPDI:: NC_000010.11:117136053:G:A,NC_000010.11:117136053:G:C
Gene:: VAX1 (Varview)
Functional Consequence:: intron_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_000010.11:g.117136054G>A, NC_000010.11:g.117136054G>C, NC_000010.10:g.118895565G>A, NC_000010.10:g.118895565G>C, NG_012317.1:g.7248C>T, NG_012317.1:g.7248C>G

Select item 149076947414.

rs1490769474 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:117136114 (GRCh38)
10:118895625 (GRCh37)
Canonical SPDI:: NC_000010.11:117136113:GGGG:GGG
Gene:: VAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.117136117del, NC_000010.10:g.118895628del, NG_012317.1:g.7188del

Select item 149064280815.

rs1490642808 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGGC [Show Flanks]
Chromosome:: 10:117137516 (GRCh38)
10:118897028 (GRCh37)
Canonical SPDI:: NC_000010.11:117137516::AGGC
Gene:: VAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGGC=0.0002/1 (ALFA)
HGVS:: NC_000010.11:g.117137516_117137517insAGGC, NC_000010.10:g.118897027_118897028insAGGC, NG_012317.1:g.5785_5786insGCCT

Select item 149060707616.

rs1490607076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:117135027 (GRCh38)
10:118894538 (GRCh37)
Canonical SPDI:: NC_000010.11:117135026:A:G,NC_000010.11:117135026:A:T
Gene:: VAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.117135027A>G, NC_000010.11:g.117135027A>T, NC_000010.10:g.118894538A>G, NC_000010.10:g.118894538A>T, NG_012317.1:g.8275T>C, NG_012317.1:g.8275T>A

Select item 149031613617.

rs1490316136 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:117139128 (GRCh38)
10:118898640 (GRCh37)
Canonical SPDI:: NC_000010.11:117139128:A:AA
Gene:: VAX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.117139129dup, NC_000010.10:g.118898640dup, NG_012317.1:g.4173dup

Select item 148955217918.

rs1489552179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:117129314 (GRCh38)
10:118888825 (GRCh37)
Canonical SPDI:: NC_000010.11:117129313:T:C
Gene:: VAX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_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_000010.11:g.117129314T>C, NC_000010.10:g.118888825T>C, NG_012317.1:g.13988A>G, NM_199131.3:c.*2895A>G, NM_199131.2:c.*2895A>G

Select item 148918709119.

rs1489187091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:117131513 (GRCh38)
10:118891024 (GRCh37)
Canonical SPDI:: NC_000010.11:117131512:G:C
Gene:: VAX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.117131513G>C, NC_000010.10:g.118891024G>C, NG_012317.1:g.11789C>G, NM_199131.3:c.*696C>G, NM_199131.2:c.*696C>G

Select item 148914786320.

rs1489147863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:117137054 (GRCh38)
10:118896565 (GRCh37)
Canonical SPDI:: NC_000010.11:117137053:C:A,NC_000010.11:117137053:C:G
Gene:: VAX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.117137054C>A, NC_000010.11:g.117137054C>G, NC_000010.10:g.118896565C>A, NC_000010.10:g.118896565C>G, NG_012317.1:g.6248G>T, NG_012317.1:g.6248G>C

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