SNP Links for Nucleotide (Select 1051792809) - SNP

Links from Nucleotide

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Select item 14910178611.

rs1491017861 has merged into rs34666221 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:143602105 (GRCh38)
8:144684275 (GRCh37)
Canonical SPDI:: NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:143602095:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TIGD5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.143602105_143602113del, NC_000008.11:g.143602106_143602113del, NC_000008.11:g.143602107_143602113del, NC_000008.11:g.143602108_143602113del, NC_000008.11:g.143602109_143602113del, NC_000008.11:g.143602110_143602113del, NC_000008.11:g.143602111_143602113del, NC_000008.11:g.143602112_143602113del, NC_000008.11:g.143602113del, NC_000008.11:g.143602113dup, NC_000008.11:g.143602112_143602113dup, NC_000008.11:g.143602111_143602113dup, NC_000008.11:g.143602110_143602113dup, NC_000008.11:g.143602109_143602113dup, NC_000008.11:g.143602108_143602113dup, NC_000008.11:g.143602107_143602113dup, NC_000008.11:g.143602106_143602113dup, NC_000008.10:g.144684275_144684283del, NC_000008.10:g.144684276_144684283del, NC_000008.10:g.144684277_144684283del, NC_000008.10:g.144684278_144684283del, NC_000008.10:g.144684279_144684283del, NC_000008.10:g.144684280_144684283del, NC_000008.10:g.144684281_144684283del, NC_000008.10:g.144684282_144684283del, NC_000008.10:g.144684283del, NC_000008.10:g.144684283dup, NC_000008.10:g.144684282_144684283dup, NC_000008.10:g.144684281_144684283dup, NC_000008.10:g.144684280_144684283dup, NC_000008.10:g.144684279_144684283dup, NC_000008.10:g.144684278_144684283dup, NC_000008.10:g.144684277_144684283dup, NC_000008.10:g.144684276_144684283dup, NG_051357.1:g.12511_12519del, NG_051357.1:g.12512_12519del, NG_051357.1:g.12513_12519del, NG_051357.1:g.12514_12519del, NG_051357.1:g.12515_12519del, NG_051357.1:g.12516_12519del, NG_051357.1:g.12517_12519del, NG_051357.1:g.12518_12519del, NG_051357.1:g.12519del, NG_051357.1:g.12519dup, NG_051357.1:g.12518_12519dup, NG_051357.1:g.12517_12519dup, NG_051357.1:g.12516_12519dup, NG_051357.1:g.12515_12519dup, NG_051357.1:g.12514_12519dup, NG_051357.1:g.12513_12519dup, NG_051357.1:g.12512_12519dup, NT_187571.1:g.92145_92153del, NT_187571.1:g.92146_92153del, NT_187571.1:g.92147_92153del, NT_187571.1:g.92148_92153del, NT_187571.1:g.92149_92153del, NT_187571.1:g.92150_92153del, NT_187571.1:g.92151_92153del, NT_187571.1:g.92152_92153del, NT_187571.1:g.92153del, NT_187571.1:g.92153dup, NT_187571.1:g.92152_92153dup, NT_187571.1:g.92151_92153dup, NT_187571.1:g.92150_92153dup, NT_187571.1:g.92149_92153dup, NT_187571.1:g.92148_92153dup, NT_187571.1:g.92147_92153dup, NT_187571.1:g.92146_92153dup, NM_032862.5:c.*2273_*2281del, NM_032862.5:c.*2274_*2281del, NM_032862.5:c.*2275_*2281del, NM_032862.5:c.*2276_*2281del, NM_032862.5:c.*2277_*2281del, NM_032862.5:c.*2278_*2281del, NM_032862.5:c.*2279_*2281del, NM_032862.5:c.*2280_*2281del, NM_032862.5:c.*2281del, NM_032862.5:c.*2281dup, NM_032862.5:c.*2280_*2281dup, NM_032862.5:c.*2279_*2281dup, NM_032862.5:c.*2278_*2281dup, NM_032862.5:c.*2277_*2281dup, NM_032862.5:c.*2276_*2281dup, NM_032862.5:c.*2275_*2281dup, NM_032862.5:c.*2274_*2281dup

Select item 14906467772.

rs1490646777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143609084 (GRCh38)
8:144691254 (GRCh37)
Canonical SPDI:: NC_000008.11:143609083:G:A
Gene:: PYCR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.143609084G>A, NC_000008.10:g.144691254G>A, NG_051357.1:g.5531C>T, NT_187571.1:g.99124G>A

Select item 14902065413.

rs1490206541 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 8:143612135 (GRCh38)
8:144694305 (GRCh37)
Canonical SPDI:: NC_000008.11:143612134:A:
Gene:: GFUS (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.143612135del, NC_000008.10:g.144694305del, NG_051357.1:g.2480del, NT_187571.1:g.102175del

Select item 14901506674.

rs1490150667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:143613919 (GRCh38)
8:144696089 (GRCh37)
Canonical SPDI:: NC_000008.11:143613918:C:A
Gene:: GFUS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.143613919C>A, NC_000008.10:g.144696089C>A, NG_051357.1:g.696G>T, NT_187571.1:g.103959C>A

Select item 14900209705.

rs1490020970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:143614145 (GRCh38)
8:144696315 (GRCh37)
Canonical SPDI:: NC_000008.11:143614144:T:C
Gene:: GFUS (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000008.11:g.143614145T>C, NC_000008.10:g.144696315T>C, NG_051357.1:g.470A>G, NT_187571.1:g.104185T>C

Select item 14893586706.

rs1489358670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:143610712 (GRCh38)
8:144692882 (GRCh37)
Canonical SPDI:: NC_000008.11:143610711:A:T
Gene:: PYCR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000008.11:g.143610712A>T, NC_000008.10:g.144692882A>T, NG_051357.1:g.3903T>A, NT_187571.1:g.100752A>T

Select item 14889886007.

rs1488988600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:143609612 (GRCh38)
8:144691782 (GRCh37)
Canonical SPDI:: NC_000008.11:143609611:T:G
Gene:: PYCR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000156/1 (1000Genomes)
G=0.000694/2 (KOREAN)
G=0.002513/42 (TOMMO)
HGVS:: NC_000008.11:g.143609612T>G, NC_000008.10:g.144691782T>G, NG_051357.1:g.5003A>C, NT_187571.1:g.99652T>G, NM_023078.4:c.-28A>C, NM_023078.3:c.-28A>C, NR_138144.1:n.3A>C, NM_001329866.1:c.-28A>C

Select item 14889669668.

rs1488966966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143604654 (GRCh38)
8:144686824 (GRCh37)
Canonical SPDI:: NC_000008.11:143604653:G:A
Gene:: PYCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000685/2 (KOREAN)
HGVS:: NC_000008.11:g.143604654G>A, NC_000008.10:g.144686824G>A, NG_051357.1:g.9961C>T, NM_023078.6:c.*1046C>T, NM_023078.5:c.*1046C>T, NM_023078.4:c.*1046C>T, NM_023078.3:c.*1046C>T, NR_138144.3:n.2011C>T, NR_138144.2:n.2011C>T, NR_138144.1:n.2050C>T, NM_001329866.3:c.*1046C>T, NM_001329866.2:c.*1046C>T, NM_001329866.1:c.*1046C>T, NT_187571.1:g.94694G>A

Select item 14888558679.

rs1488855867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143602880 (GRCh38)
8:144685050 (GRCh37)
Canonical SPDI:: NC_000008.11:143602879:G:A
Gene:: PYCR3 (Varview), TIGD5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.143602880G>A, NC_000008.10:g.144685050G>A, NG_051357.1:g.11735C>T, NT_187571.1:g.92920G>A, NM_032862.5:c.*3048G>A

Select item 148879956710.

rs1488799567 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGGCCCCATCAGGC [Show Flanks]
Chromosome:: 8:143605154 (GRCh38)
8:144687325 (GRCh37)
Canonical SPDI:: NC_000008.11:143605154:GGGGGCCCCATCAGGC:GGGGGCCCCATCAGGCGGGGGCCCCATCAGGC
Gene:: PYCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GGGGGCCCCATCAGGCGGGGGCCCCATCAGGC=0.0011/13 (ALFA)
HGVS:: NC_000008.11:g.143605155_143605170dup, NC_000008.10:g.144687325_144687340dup, NG_051357.1:g.9445_9460dup, NM_023078.6:c.*530_*545dup, NM_023078.5:c.*530_*545dup, NM_023078.4:c.*530_*545dup, NM_023078.3:c.*530_*545dup, NR_138144.3:n.1495_1510dup, NR_138144.2:n.1495_1510dup, NR_138144.1:n.1534_1549dup, NM_001329866.3:c.*530_*545dup, NM_001329866.2:c.*530_*545dup, NM_001329866.1:c.*530_*545dup, NT_187571.1:g.95195_95210dup

Select item 148868645211.

rs1488686452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:143609356 (GRCh38)
8:144691526 (GRCh37)
Canonical SPDI:: NC_000008.11:143609355:C:G,NC_000008.11:143609355:C:T
Gene:: PYCR3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000008.11:g.143609356C>G, NC_000008.11:g.143609356C>T, NC_000008.10:g.144691526C>G, NC_000008.10:g.144691526C>T, NG_051357.1:g.5259G>C, NG_051357.1:g.5259G>A, NT_187571.1:g.99396C>G, NT_187571.1:g.99396C>T

Select item 148866058512.

rs1488660585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143610471 (GRCh38)
8:144692641 (GRCh37)
Canonical SPDI:: NC_000008.11:143610470:C:T
Gene:: PYCR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.143610471C>T, NC_000008.10:g.144692641C>T, NG_051357.1:g.4144G>A, NT_187571.1:g.100511C>T

Select item 148864602513.

rs1488646025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143605405 (GRCh38)
8:144687575 (GRCh37)
Canonical SPDI:: NC_000008.11:143605404:G:A
Gene:: PYCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000008.11:g.143605405G>A, NC_000008.10:g.144687575G>A, NG_051357.1:g.9210C>T, NM_023078.6:c.*295C>T, NM_023078.5:c.*295C>T, NM_023078.4:c.*295C>T, NM_023078.3:c.*295C>T, NR_138144.3:n.1260C>T, NR_138144.2:n.1260C>T, NR_138144.1:n.1299C>T, NM_001329866.3:c.*295C>T, NM_001329866.2:c.*295C>T, NM_001329866.1:c.*295C>T, NT_187571.1:g.95445G>A

Select item 148857286514.

rs1488572865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:143613359 (GRCh38)
8:144695529 (GRCh37)
Canonical SPDI:: NC_000008.11:143613358:T:G
Gene:: GFUS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.143613359T>G, NC_000008.10:g.144695529T>G, NG_051357.1:g.1256A>C, NT_187571.1:g.103399T>G

Select item 148785435415.

rs1487854354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143605088 (GRCh38)
8:144687258 (GRCh37)
Canonical SPDI:: NC_000008.11:143605087:A:G
Gene:: PYCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.143605088A>G, NC_000008.10:g.144687258A>G, NG_051357.1:g.9527T>C, NM_023078.6:c.*612T>C, NM_023078.5:c.*612T>C, NM_023078.4:c.*612T>C, NM_023078.3:c.*612T>C, NR_138144.3:n.1577T>C, NR_138144.2:n.1577T>C, NR_138144.1:n.1616T>C, NM_001329866.3:c.*612T>C, NM_001329866.2:c.*612T>C, NM_001329866.1:c.*612T>C, NT_187571.1:g.95128A>G

Select item 148777091316.

rs1487770913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:143601899 (GRCh38)
8:144684069 (GRCh37)
Canonical SPDI:: NC_000008.11:143601898:A:C
Gene:: TIGD5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.143601899A>C, NC_000008.10:g.144684069A>C, NG_051357.1:g.12716T>G, NT_187571.1:g.91939A>C, NM_032862.5:c.*2067A>C

Select item 148771941817.

rs1487719418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:143611100 (GRCh38)
8:144693270 (GRCh37)
Canonical SPDI:: NC_000008.11:143611099:C:G,NC_000008.11:143611099:C:T
Gene:: PYCR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000008.11:g.143611100C>G, NC_000008.11:g.143611100C>T, NC_000008.10:g.144693270C>G, NC_000008.10:g.144693270C>T, NG_051357.1:g.3515G>C, NG_051357.1:g.3515G>A, NT_187571.1:g.101140C>G, NT_187571.1:g.101140C>T

Select item 148767770118.

rs1487677701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143603714 (GRCh38)
8:144685884 (GRCh37)
Canonical SPDI:: NC_000008.11:143603713:C:T
Gene:: PYCR3 (Varview), TIGD5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.143603714C>T, NC_000008.10:g.144685884C>T, NG_051357.1:g.10901G>A, NM_023078.6:c.*1986G>A, NM_023078.5:c.*1986G>A, NM_023078.4:c.*1986G>A, NR_138144.3:n.2951G>A, NR_138144.2:n.2951G>A, NR_138144.1:n.2990G>A, NM_001329866.3:c.*1986G>A, NM_001329866.2:c.*1986G>A, NM_001329866.1:c.*1986G>A, NT_187571.1:g.93754C>T

Select item 148752253019.

rs1487522530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143608798 (GRCh38)
8:144690968 (GRCh37)
Canonical SPDI:: NC_000008.11:143608797:G:A
Gene:: PYCR3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.143608798G>A, NC_000008.10:g.144690968G>A, NG_051357.1:g.5817C>T, NR_138144.3:n.197C>T, NR_138144.2:n.197C>T, NR_138144.1:n.236C>T, NT_187571.1:g.98838G>A

Select item 148729967620.

rs1487299676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:143612899 (GRCh38)
8:144695069 (GRCh37)
Canonical SPDI:: NC_000008.11:143612898:G:A,NC_000008.11:143612898:G:T
Gene:: GFUS (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_000008.11:g.143612899G>A, NC_000008.11:g.143612899G>T, NC_000008.10:g.144695069G>A, NC_000008.10:g.144695069G>T, NG_051357.1:g.1716C>T, NG_051357.1:g.1716C>A, NT_187571.1:g.102939G>A, NT_187571.1:g.102939G>T, XM_005251051.4:c.*11C>T, XM_005251051.4:c.*11C>A, XM_005251051.3:c.*11C>T, XM_005251051.3:c.*11C>A, XM_005251051.2:c.*11C>T, XM_005251051.2:c.*11C>A, XM_005251051.1:c.*11C>T, XM_005251051.1:c.*11C>A, NM_003313.4:c.*11C>T, NM_003313.4:c.*11C>A, NM_003313.3:c.*11C>T, NM_003313.3:c.*11C>A, XM_011517269.2:c.*11C>T, XM_011517269.2:c.*11C>A, XM_011517269.1:c.*11C>T, XM_011517269.1:c.*11C>A, NM_001317783.2:c.*11C>T, NM_001317783.2:c.*11C>A, NM_001317783.1:c.*11C>T, NM_001317783.1:c.*11C>A

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

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