SNP Links for Nucleotide (Select 767932348) - SNP

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Select item 14910697581.

rs1491069758 has merged into rs34925773 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 4:162163692 (GRCh38)
4:163084844 (GRCh37)
Canonical SPDI:: NC_000004.12:162163681:AAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:162163681:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:162163681:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:162163681:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: FSTL5 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.150678/39883 (TOPMED)
-=0.178555/781 (1000Genomes)
HGVS:: NC_000004.12:g.162163692_162163693del, NC_000004.12:g.162163693del, NC_000004.12:g.162163693dup, NC_000004.12:g.162163692_162163693dup, NC_000004.11:g.163084844_163084845del, NC_000004.11:g.163084845del, NC_000004.11:g.163084845dup, NC_000004.11:g.163084844_163084845dup, NM_020116.5:c.-85_-84del, NM_020116.5:c.-84del, NM_020116.5:c.-84dup, NM_020116.5:c.-85_-84dup, NM_020116.4:c.-85_-84del, NM_020116.4:c.-84del, NM_020116.4:c.-84dup, NM_020116.4:c.-85_-84dup, NM_001128427.3:c.-85_-84del, NM_001128427.3:c.-84del, NM_001128427.3:c.-84dup, NM_001128427.3:c.-85_-84dup, NM_001128427.2:c.-85_-84del, NM_001128427.2:c.-84del, NM_001128427.2:c.-84dup, NM_001128427.2:c.-85_-84dup, NM_001128428.3:c.-85_-84del, NM_001128428.3:c.-84del, NM_001128428.3:c.-84dup, NM_001128428.3:c.-85_-84dup, NM_001128428.2:c.-85_-84del, NM_001128428.2:c.-84del, NM_001128428.2:c.-84dup, NM_001128428.2:c.-85_-84dup, XM_011532126.1:c.-85_-84del, XM_011532126.1:c.-84del, XM_011532126.1:c.-84dup, XM_011532126.1:c.-85_-84dup

Select item 14902595562.

rs1490259556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:161500107 (GRCh38)
4:162421259 (GRCh37)
Canonical SPDI:: NC_000004.12:161500106:A:T
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.161500107A>T, NC_000004.11:g.162421259A>T, NM_020116.5:c.1367T>A, NM_020116.4:c.1367T>A, NM_001128427.3:c.1364T>A, NM_001128427.2:c.1364T>A, NM_001128428.3:c.1337T>A, NM_001128428.2:c.1337T>A, XM_011532126.1:c.1340T>A, NP_064501.2:p.Val456Asp, NP_001121899.1:p.Val455Asp, NP_001121900.1:p.Val446Asp, XP_011530428.1:p.Val447Asp

Select item 14893730593.

rs1489373059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:161386061 (GRCh38)
4:162307213 (GRCh37)
Canonical SPDI:: NC_000004.12:161386060:A:G
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.161386061A>G, NC_000004.11:g.162307213A>G, NM_020116.5:c.2230T>C, NM_020116.4:c.2230T>C, NM_001128427.3:c.2227T>C, NM_001128427.2:c.2227T>C, NM_001128428.3:c.2200T>C, NM_001128428.2:c.2200T>C, XM_011532126.1:c.2203T>C, NP_064501.2:p.Phe744Leu, NP_001121899.1:p.Phe743Leu, NP_001121900.1:p.Phe734Leu, XP_011530428.1:p.Phe735Leu

Select item 14887760124.

rs1488776012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:161538269 (GRCh38)
4:162459421 (GRCh37)
Canonical SPDI:: NC_000004.12:161538268:C:T
Gene:: FSTL5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.161538269C>T, NC_000004.11:g.162459421C>T, NM_020116.5:c.1209G>A, NM_020116.4:c.1209G>A, NM_001128427.3:c.1206G>A, NM_001128427.2:c.1206G>A, NM_001128428.3:c.1206G>A, NM_001128428.2:c.1206G>A, XM_011532126.1:c.1209G>A

Select item 14877166865.

rs1487716686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:161538286 (GRCh38)
4:162459438 (GRCh37)
Canonical SPDI:: NC_000004.12:161538285:C:A
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.161538286C>A, NC_000004.11:g.162459438C>A, NM_020116.5:c.1192G>T, NM_020116.4:c.1192G>T, NM_001128427.3:c.1189G>T, NM_001128427.2:c.1189G>T, NM_001128428.3:c.1189G>T, NM_001128428.2:c.1189G>T, XM_011532126.1:c.1192G>T, NP_064501.2:p.Val398Phe, NP_001121899.1:p.Val397Phe, NP_001121900.1:p.Val397Phe, XP_011530428.1:p.Val398Phe

Select item 14877069326.

rs1487706932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:161656491 (GRCh38)
4:162577643 (GRCh37)
Canonical SPDI:: NC_000004.12:161656490:A:G
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.161656491A>G, NC_000004.11:g.162577643A>G, NM_020116.5:c.731T>C, NM_020116.4:c.731T>C, NM_001128427.3:c.728T>C, NM_001128427.2:c.728T>C, NM_001128428.3:c.728T>C, NM_001128428.2:c.728T>C, XM_011532126.1:c.731T>C, NP_064501.2:p.Val244Ala, NP_001121899.1:p.Val243Ala, NP_001121900.1:p.Val243Ala, XP_011530428.1:p.Val244Ala

Select item 14867434167.

rs1486743416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:162163834 (GRCh38)
4:163084986 (GRCh37)
Canonical SPDI:: NC_000004.12:162163833:A:G
Gene:: FSTL5 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.162163834A>G, NC_000004.11:g.163084986A>G, NM_020116.5:c.-236T>C, NM_020116.4:c.-236T>C, NM_001128427.3:c.-236T>C, NM_001128427.2:c.-236T>C, NM_001128428.3:c.-236T>C, NM_001128428.2:c.-236T>C, XM_011532126.1:c.-236T>C

Select item 14863473518.

rs1486347351 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 4:161920627 (GRCh38)
4:162841779 (GRCh37)
Canonical SPDI:: NC_000004.12:161920626:AAAA:AAA,NC_000004.12:161920626:AAAA:AAAAA
Gene:: FSTL5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.161920630del, NC_000004.12:g.161920630dup, NC_000004.11:g.162841782del, NC_000004.11:g.162841782dup, NM_020116.5:c.186del, NM_020116.5:c.186dup, NM_020116.4:c.186del, NM_020116.4:c.186dup, NM_001128427.3:c.183del, NM_001128427.3:c.183dup, NM_001128427.2:c.183del, NM_001128427.2:c.183dup, NM_001128428.3:c.183del, NM_001128428.3:c.183dup, NM_001128428.2:c.183del, NM_001128428.2:c.183dup, XM_011532126.1:c.186del, XM_011532126.1:c.186dup, NP_064501.2:p.Phe62fs, NP_064501.2:p.Gly63fs, NP_001121899.1:p.Phe61fs, NP_001121899.1:p.Gly62fs, NP_001121900.1:p.Phe61fs, NP_001121900.1:p.Gly62fs, XP_011530428.1:p.Phe62fs, XP_011530428.1:p.Gly63fs

Select item 14859839189.

rs1485983918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:161384166 (GRCh38)
4:162305318 (GRCh37)
Canonical SPDI:: NC_000004.12:161384165:C:A,NC_000004.12:161384165:C:G
Gene:: FSTL5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
G=0.000142/2 (TOMMO)
HGVS:: NC_000004.12:g.161384166C>A, NC_000004.12:g.161384166C>G, NC_000004.11:g.162305318C>A, NC_000004.11:g.162305318C>G, NM_020116.5:c.*1581G>T, NM_020116.5:c.*1581G>C, NM_020116.4:c.*1581G>T, NM_020116.4:c.*1581G>C, NM_001128427.3:c.*1581G>T, NM_001128427.3:c.*1581G>C, NM_001128427.2:c.*1581G>T, NM_001128427.2:c.*1581G>C, NM_001128428.3:c.*1581G>T, NM_001128428.3:c.*1581G>C, NM_001128428.2:c.*1581G>T, NM_001128428.2:c.*1581G>C, XM_011532126.1:c.*1581G>T, XM_011532126.1:c.*1581G>C

Select item 148575409710.

rs1485754097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:161481109 (GRCh38)
4:162402261 (GRCh37)
Canonical SPDI:: NC_000004.12:161481108:C:A
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.161481109C>A, NC_000004.11:g.162402261C>A, NM_020116.5:c.1519G>T, NM_020116.4:c.1519G>T, NM_001128427.3:c.1516G>T, NM_001128427.2:c.1516G>T, NM_001128428.3:c.1489G>T, NM_001128428.2:c.1489G>T, XM_011532126.1:c.1492G>T, NP_064501.2:p.Val507Phe, NP_001121899.1:p.Val506Phe, NP_001121900.1:p.Val497Phe, XP_011530428.1:p.Val498Phe

Select item 148484614511.

rs1484846145 has merged into rs1179312023 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AAA,AAAAA [Show Flanks]
Chromosome:: 4:162163725 (GRCh38)
4:163084877 (GRCh37)
Canonical SPDI:: NC_000004.12:162163719:AAAAAAAAA:AAAAA,NC_000004.12:162163719:AAAAAAAAA:AAAAAAAA,NC_000004.12:162163719:AAAAAAAAA:AAAAAAAAAA
Gene:: FSTL5 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.162163725_162163728del, NC_000004.12:g.162163728del, NC_000004.12:g.162163728dup, NC_000004.11:g.163084877_163084880del, NC_000004.11:g.163084880del, NC_000004.11:g.163084880dup, NM_020116.5:c.-125_-122del, NM_020116.5:c.-122del, NM_020116.5:c.-122dup, NM_020116.4:c.-125_-122del, NM_020116.4:c.-122del, NM_020116.4:c.-122dup, NM_001128427.3:c.-125_-122del, NM_001128427.3:c.-122del, NM_001128427.3:c.-122dup, NM_001128427.2:c.-125_-122del, NM_001128427.2:c.-122del, NM_001128427.2:c.-122dup, NM_001128428.3:c.-125_-122del, NM_001128428.3:c.-122del, NM_001128428.3:c.-122dup, NM_001128428.2:c.-125_-122del, NM_001128428.2:c.-122del, NM_001128428.2:c.-122dup, XM_011532126.1:c.-125_-122del, XM_011532126.1:c.-122del, XM_011532126.1:c.-122dup

Select item 148449692012.

rs1484496920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:161385081 (GRCh38)
4:162306233 (GRCh37)
Canonical SPDI:: NC_000004.12:161385080:T:C
Gene:: FSTL5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.161385081T>C, NC_000004.11:g.162306233T>C, NM_020116.5:c.*666A>G, NM_020116.4:c.*666A>G, NM_001128427.3:c.*666A>G, NM_001128427.2:c.*666A>G, NM_001128428.3:c.*666A>G, NM_001128428.2:c.*666A>G, XM_011532126.1:c.*666A>G

Select item 148427248413.

rs1484272484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:161542556 (GRCh38)
4:162463708 (GRCh37)
Canonical SPDI:: NC_000004.12:161542555:G:A
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.161542556G>A, NC_000004.11:g.162463708G>A, NM_020116.5:c.1153C>T, NM_020116.4:c.1153C>T, NM_001128427.3:c.1150C>T, NM_001128427.2:c.1150C>T, NM_001128428.3:c.1150C>T, NM_001128428.2:c.1150C>T, XM_011532126.1:c.1153C>T, NP_064501.2:p.Leu385Phe, NP_001121899.1:p.Leu384Phe, NP_001121900.1:p.Leu384Phe, XP_011530428.1:p.Leu385Phe

Select item 148425248714.

rs1484252487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:161656403 (GRCh38)
4:162577555 (GRCh37)
Canonical SPDI:: NC_000004.12:161656402:T:G
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.161656403T>G, NC_000004.11:g.162577555T>G, NM_020116.5:c.819A>C, NM_020116.4:c.819A>C, NM_001128427.3:c.816A>C, NM_001128427.2:c.816A>C, NM_001128428.3:c.816A>C, NM_001128428.2:c.816A>C, XM_011532126.1:c.819A>C, NP_064501.2:p.Gln273His, NP_001121899.1:p.Gln272His, NP_001121900.1:p.Gln272His, XP_011530428.1:p.Gln273His

Select item 148417137415.

rs1484171374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:161385511 (GRCh38)
4:162306663 (GRCh37)
Canonical SPDI:: NC_000004.12:161385510:C:T
Gene:: FSTL5 (Varview)
Functional Consequence:: 3_prime_UTR_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_000004.12:g.161385511C>T, NC_000004.11:g.162306663C>T, NM_020116.5:c.*236G>A, NM_020116.4:c.*236G>A, NM_001128427.3:c.*236G>A, NM_001128427.2:c.*236G>A, NM_001128428.3:c.*236G>A, NM_001128428.2:c.*236G>A, XM_011532126.1:c.*236G>A

Select item 148311233716.

rs1483112337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:161920635 (GRCh38)
4:162841787 (GRCh37)
Canonical SPDI:: NC_000004.12:161920634:C:T
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.161920635C>T, NC_000004.11:g.162841787C>T, NM_020116.5:c.178G>A, NM_020116.4:c.178G>A, NM_001128427.3:c.175G>A, NM_001128427.2:c.175G>A, NM_001128428.3:c.175G>A, NM_001128428.2:c.175G>A, XM_011532126.1:c.178G>A, NP_064501.2:p.Gly60Ser, NP_001121899.1:p.Gly59Ser, NP_001121900.1:p.Gly59Ser, XP_011530428.1:p.Gly60Ser

Select item 148253824117.

rs1482538241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:161386113 (GRCh38)
4:162307265 (GRCh37)
Canonical SPDI:: NC_000004.12:161386112:T:A
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.161386113T>A, NC_000004.11:g.162307265T>A, NM_020116.5:c.2178A>T, NM_020116.4:c.2178A>T, NM_001128427.3:c.2175A>T, NM_001128427.2:c.2175A>T, NM_001128428.3:c.2148A>T, NM_001128428.2:c.2148A>T, XM_011532126.1:c.2151A>T, NP_064501.2:p.Glu726Asp, NP_001121899.1:p.Glu725Asp, NP_001121900.1:p.Glu716Asp, XP_011530428.1:p.Glu717Asp

Select item 148207126418.

rs1482071264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:161386247 (GRCh38)
4:162307399 (GRCh37)
Canonical SPDI:: NC_000004.12:161386246:C:T
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.161386247C>T, NC_000004.11:g.162307399C>T, NM_020116.5:c.2044G>A, NM_020116.4:c.2044G>A, NM_001128427.3:c.2041G>A, NM_001128427.2:c.2041G>A, NM_001128428.3:c.2014G>A, NM_001128428.2:c.2014G>A, XM_011532126.1:c.2017G>A, NP_064501.2:p.Val682Ile, NP_001121899.1:p.Val681Ile, NP_001121900.1:p.Val672Ile, XP_011530428.1:p.Val673Ile

Select item 148178702619.

rs1481787026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:161920446 (GRCh38)
4:162841598 (GRCh37)
Canonical SPDI:: NC_000004.12:161920445:G:A,NC_000004.12:161920445:G:T
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.161920446G>A, NC_000004.12:g.161920446G>T, NC_000004.11:g.162841598G>A, NC_000004.11:g.162841598G>T, NM_020116.5:c.367C>T, NM_020116.5:c.367C>A, NM_020116.4:c.367C>T, NM_020116.4:c.367C>A, NM_001128427.3:c.364C>T, NM_001128427.3:c.364C>A, NM_001128427.2:c.364C>T, NM_001128427.2:c.364C>A, NM_001128428.3:c.364C>T, NM_001128428.3:c.364C>A, NM_001128428.2:c.364C>T, NM_001128428.2:c.364C>A, XM_011532126.1:c.367C>T, XM_011532126.1:c.367C>A, NP_064501.2:p.Gln123Ter, NP_064501.2:p.Gln123Lys, NP_001121899.1:p.Gln122Ter, NP_001121899.1:p.Gln122Lys, NP_001121900.1:p.Gln122Ter, NP_001121900.1:p.Gln122Lys, XP_011530428.1:p.Gln123Ter, XP_011530428.1:p.Gln123Lys

Select item 148130244120.

rs1481302441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:161455100 (GRCh38)
4:162376252 (GRCh37)
Canonical SPDI:: NC_000004.12:161455099:G:A
Gene:: FSTL5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000004.12:g.161455100G>A, NC_000004.11:g.162376252G>A, NM_020116.5:c.1745C>T, NM_020116.4:c.1745C>T, NM_001128427.3:c.1742C>T, NM_001128427.2:c.1742C>T, NM_001128428.3:c.1715C>T, NM_001128428.2:c.1715C>T, XM_011532126.1:c.1718C>T, NP_064501.2:p.Pro582Leu, NP_001121899.1:p.Pro581Leu, NP_001121900.1:p.Pro572Leu, XP_011530428.1:p.Pro573Leu

dbSNP

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