SNP Links for Gene (Select 8398) - SNP

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Select item 14915737511.

rs1491573751 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAAG [Show Flanks]
Chromosome:: 22:38159725 (GRCh38)
22:38555733 (GRCh37)
Canonical SPDI:: NC_000022.11:38159725::GAAG
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000022.11:g.38159725_38159726insGAAG, NC_000022.10:g.38555732_38555733insGAAG, NG_007094.3:g.60053_60054insCTTC

Select item 14915596372.

rs1491559637 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:38181256 (GRCh38)
22:38577263 (GRCh37)
Canonical SPDI:: NC_000022.11:38181250:GAGAGAG:GAGAG
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAGAG=0./0 (ALFA)
HGVS:: NC_000022.11:g.38181252AG[2], NC_000022.10:g.38577259AG[2], NG_007094.3:g.38523TC[2]

Select item 14915552923.

rs1491555292 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:38184027 (GRCh38)
22:38580035 (GRCh37)
Canonical SPDI:: NC_000022.11:38184027::G
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.38184027_38184028insG, NC_000022.10:g.38580034_38580035insG, NG_007094.3:g.35751_35752insC

Select item 14915442344.

rs1491544234 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:38145783 (GRCh38)
22:38541791 (GRCh37)
Canonical SPDI:: NC_000022.11:38145783::C
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000054/6 (GnomAD)
HGVS:: NC_000022.11:g.38145783_38145784insC, NC_000022.10:g.38541790_38541791insC, NG_007094.3:g.73995_73996insG

Select item 14915339605.

rs1491533960 has merged into rs968832533 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:38145042 (GRCh38)
22:38541049 (GRCh37)
Canonical SPDI:: NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:38145032:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.38145042_38145055del, NC_000022.11:g.38145044_38145055del, NC_000022.11:g.38145045_38145055del, NC_000022.11:g.38145046_38145055del, NC_000022.11:g.38145047_38145055del, NC_000022.11:g.38145048_38145055del, NC_000022.11:g.38145049_38145055del, NC_000022.11:g.38145050_38145055del, NC_000022.11:g.38145051_38145055del, NC_000022.11:g.38145052_38145055del, NC_000022.11:g.38145053_38145055del, NC_000022.11:g.38145054_38145055del, NC_000022.11:g.38145055del, NC_000022.11:g.38145055dup, NC_000022.11:g.38145054_38145055dup, NC_000022.11:g.38145053_38145055dup, NC_000022.11:g.38145052_38145055dup, NC_000022.11:g.38145051_38145055dup, NC_000022.11:g.38145055_38145056insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.38145055_38145056insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.38145055_38145056insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.38541049_38541062del, NC_000022.10:g.38541051_38541062del, NC_000022.10:g.38541052_38541062del, NC_000022.10:g.38541053_38541062del, NC_000022.10:g.38541054_38541062del, NC_000022.10:g.38541055_38541062del, NC_000022.10:g.38541056_38541062del, NC_000022.10:g.38541057_38541062del, NC_000022.10:g.38541058_38541062del, NC_000022.10:g.38541059_38541062del, NC_000022.10:g.38541060_38541062del, NC_000022.10:g.38541061_38541062del, NC_000022.10:g.38541062del, NC_000022.10:g.38541062dup, NC_000022.10:g.38541061_38541062dup, NC_000022.10:g.38541060_38541062dup, NC_000022.10:g.38541059_38541062dup, NC_000022.10:g.38541058_38541062dup, NC_000022.10:g.38541062_38541063insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.38541062_38541063insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.38541062_38541063insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007094.3:g.74733_74746del, NG_007094.3:g.74735_74746del, NG_007094.3:g.74736_74746del, NG_007094.3:g.74737_74746del, NG_007094.3:g.74738_74746del, NG_007094.3:g.74739_74746del, NG_007094.3:g.74740_74746del, NG_007094.3:g.74741_74746del, NG_007094.3:g.74742_74746del, NG_007094.3:g.74743_74746del, NG_007094.3:g.74744_74746del, NG_007094.3:g.74745_74746del, NG_007094.3:g.74746del, NG_007094.3:g.74746dup, NG_007094.3:g.74745_74746dup, NG_007094.3:g.74744_74746dup, NG_007094.3:g.74743_74746dup, NG_007094.3:g.74742_74746dup, NG_007094.3:g.74746_74747insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007094.3:g.74746_74747insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007094.3:g.74746_74747insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915207106.

rs1491520710 has merged into rs1372685560 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 22:38145784 (GRCh38)
22:38541791 (GRCh37)
Canonical SPDI:: NC_000022.11:38145782:AAA:A,NC_000022.11:38145782:AAA:AAAAA
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.00006/1 (ALFA)
HGVS:: NC_000022.11:g.38145784_38145785del, NC_000022.11:g.38145784_38145785dup, NC_000022.10:g.38541791_38541792del, NC_000022.10:g.38541791_38541792dup, NG_007094.3:g.73995_73996del, NG_007094.3:g.73995_73996dup

Select item 14915056667.

rs1491505666 [Homo sapiens]

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

Select item 14914918188.

rs1491491818 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:38171172 (GRCh38)
22:38567179 (GRCh37)
Canonical SPDI:: NC_000022.11:38171171:CA:
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.38171172_38171173del, NC_000022.10:g.38567179_38567180del, NG_007094.3:g.48606_48607del

Select item 14914791749.

rs1491479174 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:38146782 (GRCh38)
22:38542789 (GRCh37)
Canonical SPDI:: NC_000022.11:38146780:TCT:T
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00051/6 (ALFA)
-=0.00141/127 (GnomAD)
HGVS:: NC_000022.11:g.38146782_38146783del, NC_000022.10:g.38542789_38542790del, NG_007094.3:g.72997_72998del

Select item 149146953310.

rs1491469533 has merged into rs58540170 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 22:38193582 (GRCh38)
22:38589589 (GRCh37)
Canonical SPDI:: NC_000022.11:38193568:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:38193568:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:38193568:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:38193568:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:38193568:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:38193568:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:38193568:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.38193582_38193585del, NC_000022.11:g.38193583_38193585del, NC_000022.11:g.38193584_38193585del, NC_000022.11:g.38193585del, NC_000022.11:g.38193585dup, NC_000022.11:g.38193584_38193585dup, NC_000022.11:g.38193579_38193585dup, NC_000022.10:g.38589589_38589592del, NC_000022.10:g.38589590_38589592del, NC_000022.10:g.38589591_38589592del, NC_000022.10:g.38589592del, NC_000022.10:g.38589592dup, NC_000022.10:g.38589591_38589592dup, NC_000022.10:g.38589586_38589592dup, NG_007094.3:g.26207_26210del, NG_007094.3:g.26208_26210del, NG_007094.3:g.26209_26210del, NG_007094.3:g.26210del, NG_007094.3:g.26210dup, NG_007094.3:g.26209_26210dup, NG_007094.3:g.26204_26210dup

Select item 149146718011.

rs1491467180 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACACACACACACACACACCC,ACACACACACACACACACACCC,ACACACACACACACACACCC,ACACACACACACACACCC,ACACACACACACACCC,ACACACACACACCC,ACACACACACCC,ACACACACCC,ACACACACCCC,ACACACCC,ACACCC,ACCC [Show Flanks]
Chromosome:: 22:38145833 (GRCh38)
22:38541841 (GRCh37)
Canonical SPDI:: NC_000022.11:38145833:C:CACACACACACACACACACACACACCC,NC_000022.11:38145833:C:CACACACACACACACACACACCC,NC_000022.11:38145833:C:CACACACACACACACACACCC,NC_000022.11:38145833:C:CACACACACACACACACCC,NC_000022.11:38145833:C:CACACACACACACACCC,NC_000022.11:38145833:C:CACACACACACACCC,NC_000022.11:38145833:C:CACACACACACCC,NC_000022.11:38145833:C:CACACACACCC,NC_000022.11:38145833:C:CACACACACCCC,NC_000022.11:38145833:C:CACACACCC,NC_000022.11:38145833:C:CACACCC,NC_000022.11:38145833:C:CACCC
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACCC=0./0 (ALFA)
CACACC=0.005/3 (NorthernSweden)
HGVS:: NC_000022.11:g.38145834CA[12]CCC[1], NC_000022.11:g.38145834CA[10]CCC[1], NC_000022.11:g.38145834CA[9]CCC[1], NC_000022.11:g.38145834CA[8]CCC[1], NC_000022.11:g.38145834CA[7]CCC[1], NC_000022.11:g.38145834CA[6]CCC[1], NC_000022.11:g.38145834CA[5]CCC[1], NC_000022.11:g.38145834CA[4]CCC[1], NC_000022.11:g.38145834CA[4]C[4], NC_000022.11:g.38145834CA[3]CCC[1], NC_000022.11:g.38145834CA[2]CCC[1], NC_000022.11:g.38145834_38145835insACCC, NC_000022.10:g.38541841CA[12]CCC[1], NC_000022.10:g.38541841CA[10]CCC[1], NC_000022.10:g.38541841CA[9]CCC[1], NC_000022.10:g.38541841CA[8]CCC[1], NC_000022.10:g.38541841CA[7]CCC[1], NC_000022.10:g.38541841CA[6]CCC[1], NC_000022.10:g.38541841CA[5]CCC[1], NC_000022.10:g.38541841CA[4]CCC[1], NC_000022.10:g.38541841CA[4]C[4], NC_000022.10:g.38541841CA[3]CCC[1], NC_000022.10:g.38541841CA[2]CCC[1], NC_000022.10:g.38541841_38541842insACCC, NG_007094.3:g.73945_73946insGGTGTGTGTGTGTGTGTGTGTGTGTG, NG_007094.3:g.73945_73946insGGTGTGTGTGTGTGTGTGTGTG, NG_007094.3:g.73945_73946insGGTGTGTGTGTGTGTGTGTG, NG_007094.3:g.73945_73946insGGTGTGTGTGTGTGTGTG, NG_007094.3:g.73945_73946insGGTGTGTGTGTGTGTG, NG_007094.3:g.73945_73946insGGTGTGTGTGTGTG, NG_007094.3:g.73945_73946insGGTGTGTGTGTG, NG_007094.3:g.73945_73946insGGTGTGTGTG, NG_007094.3:g.73945G[4]TG[4], NG_007094.3:g.73945_73946insGGTGTGTG, NG_007094.3:g.73945_73946insGGTGTG, NG_007094.3:g.73945_73946insGGTG

Select item 149142692912.

rs1491426929 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:38112908 (GRCh38)
22:38508916 (GRCh37)
Canonical SPDI:: NC_000022.11:38112908::C
Gene:: PLA2G6 (Varview), BAIAP2L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000275/38 (GnomAD)
HGVS:: NC_000022.11:g.38112908_38112909insC, NC_000022.10:g.38508915_38508916insC, NG_007094.3:g.106870_106871insG, NG_033059.2:g.2761_2762insG

Select item 149132171713.

rs1491321717 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:38145033 (GRCh38)
22:38541041 (GRCh37)
Canonical SPDI:: NC_000022.11:38145033::C
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000035/3 (GnomAD)
HGVS:: NC_000022.11:g.38145033_38145034insC, NC_000022.10:g.38541040_38541041insC, NG_007094.3:g.74745_74746insG

Select item 149131831514.

rs1491318315 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:38193569 (GRCh38)
22:38589577 (GRCh37)
Canonical SPDI:: NC_000022.11:38193569::T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000403/1 (GnomAD)
HGVS:: NC_000022.11:g.38193569_38193570insT, NC_000022.10:g.38589576_38589577insT, NG_007094.3:g.26209_26210insA

Select item 149129864515.

rs1491298645 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:38116851 (GRCh38)
22:38512858 (GRCh37)
Canonical SPDI:: NC_000022.11:38116850:CA:
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.38116851_38116852del, NC_000022.10:g.38512858_38512859del, NG_007094.3:g.102927_102928del

Select item 149126040116.

rs1491260401 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:38158169 (GRCh38)
22:38554177 (GRCh37)
Canonical SPDI:: NC_000022.11:38158169:C:CC
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.38158170dup, NC_000022.10:g.38554177dup, NG_007094.3:g.61609dup

Select item 149123143117.

rs1491231431 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 22:38134600 (GRCh38)
22:38530608 (GRCh37)
Canonical SPDI:: NC_000022.11:38134600:TATATATATAT:TATATATATATAT
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.000029/4 (GnomAD)
TA=0.000053/14 (TOPMED)
HGVS:: NC_000022.11:g.38134602AT[6], NC_000022.10:g.38530609AT[6], NG_007094.3:g.85169TA[6]

Select item 149117920218.

rs1491179202 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:38155397 (GRCh38)
22:38551404 (GRCh37)
Canonical SPDI:: NC_000022.11:38155393:ATATA:ATA
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0.000071/1 (ALFA)
-=0./0 (TWINSUK)
-=0.000014/2 (GnomAD)
-=0.00006/16 (TOPMED)
-=0.000519/2 (ALSPAC)
HGVS:: NC_000022.11:g.38155395TA[1], NC_000022.10:g.38551402TA[1], NG_007094.3:g.64382AT[1]

Select item 149114373419.

rs1491143734 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:38139417 (GRCh38)
22:38535424 (GRCh37)
Canonical SPDI:: NC_000022.11:38139413:TTTTT:TTT
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.38139417_38139418del, NC_000022.10:g.38535424_38535425del, NG_007094.3:g.80364_80365del

Select item 149112524220.

rs1491125242 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:38139414 (GRCh38)
22:38535422 (GRCh37)
Canonical SPDI:: NC_000022.11:38139414::A
Gene:: PLA2G6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00015/20 (GnomAD)
A=0.000177/3 (TOMMO)
HGVS:: NC_000022.11:g.38139414_38139415insA, NC_000022.10:g.38535421_38535422insA, NG_007094.3:g.80364_80365insT

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