SNP Links for Gene (Select 23306) - SNP

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Select item 14915314821.

rs1491531482 has merged into rs35908183 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCC>-,CC,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
Chromosome:: 12:57086534 (GRCh38)
12:57480317 (GRCh37)
Canonical SPDI:: NC_000012.12:57086527:CCCCCCCCCCC:CCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: NEMP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
-=0.0931/359 (ALSPAC)
C=0.15/6 (GENOME_DK)
C=0.233/1167 (1000Genomes)
HGVS:: NC_000012.12:g.57086534_57086538del, NC_000012.12:g.57086536_57086538del, NC_000012.12:g.57086537_57086538del, NC_000012.12:g.57086538del, NC_000012.12:g.57086538dup, NC_000012.12:g.57086537_57086538dup, NC_000012.12:g.57086536_57086538dup, NC_000012.11:g.57480317_57480321del, NC_000012.11:g.57480319_57480321del, NC_000012.11:g.57480320_57480321del, NC_000012.11:g.57480321del, NC_000012.11:g.57480321dup, NC_000012.11:g.57480320_57480321dup, NC_000012.11:g.57480319_57480321dup

Select item 14913694032.

rs1491369403 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,ACA [Show Flanks]
Chromosome:: 12:57086537 (GRCh38)
12:57480321 (GRCh37)
Canonical SPDI:: NC_000012.12:57086537::A,NC_000012.12:57086537::AA,NC_000012.12:57086537::ACA
Gene:: NEMP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
ACA=0.00012/2 (TOMMO)
HGVS:: NC_000012.12:g.57086537_57086538insA, NC_000012.12:g.57086537_57086538insAA, NC_000012.12:g.57086537_57086538insACA, NC_000012.11:g.57480320_57480321insA, NC_000012.11:g.57480320_57480321insAA, NC_000012.11:g.57480320_57480321insACA

Select item 14913454953.

rs1491345495 has merged into rs1442141628 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,GG,GGGG [Show Flanks]
Chromosome:: 12:57089783 (GRCh38)
12:57483566 (GRCh37)
Canonical SPDI:: NC_000012.12:57089778:GGGGGGG:GGGG,NC_000012.12:57089778:GGGGGGG:GGGGGG,NC_000012.12:57089778:GGGGGGG:GGGGGGGG
Gene:: NAB2 (Varview), NEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
HGVS:: NC_000012.12:g.57089783_57089785del, NC_000012.12:g.57089785del, NC_000012.12:g.57089785dup, NC_000012.11:g.57483566_57483568del, NC_000012.11:g.57483568del, NC_000012.11:g.57483568dup

Select item 14913292174.

rs1491329217 has merged into rs35908183 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCC>-,CC,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
Chromosome:: 12:57086534 (GRCh38)
12:57480317 (GRCh37)
Canonical SPDI:: NC_000012.12:57086527:CCCCCCCCCCC:CCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000012.12:57086527:CCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: NEMP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
-=0.0931/359 (ALSPAC)
C=0.15/6 (GENOME_DK)
C=0.233/1167 (1000Genomes)
HGVS:: NC_000012.12:g.57086534_57086538del, NC_000012.12:g.57086536_57086538del, NC_000012.12:g.57086537_57086538del, NC_000012.12:g.57086538del, NC_000012.12:g.57086538dup, NC_000012.12:g.57086537_57086538dup, NC_000012.12:g.57086536_57086538dup, NC_000012.11:g.57480317_57480321del, NC_000012.11:g.57480319_57480321del, NC_000012.11:g.57480320_57480321del, NC_000012.11:g.57480321del, NC_000012.11:g.57480321dup, NC_000012.11:g.57480320_57480321dup, NC_000012.11:g.57480319_57480321dup

Select item 14911721605.

rs1491172160 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:57089778 (GRCh38)
12:57483561 (GRCh37)
Canonical SPDI:: NC_000012.12:57089777:AG:
Gene:: NAB2 (Varview), NEMP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57089778_57089779del, NC_000012.11:g.57483561_57483562del

Select item 14910320656.

rs1491032065 has merged into rs60838518 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:57080905 (GRCh38)
12:57474688 (GRCh37)
Canonical SPDI:: NC_000012.12:57080893:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:57080893:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:57080893:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:57080893:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:57080893:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:57080893:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:57080893:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:57080893:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:57080893:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:57080893:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEMP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.0346/20 (NorthernSweden)
-=0.1879/941 (1000Genomes)
HGVS:: NC_000012.12:g.57080905_57080910del, NC_000012.12:g.57080906_57080910del, NC_000012.12:g.57080907_57080910del, NC_000012.12:g.57080908_57080910del, NC_000012.12:g.57080909_57080910del, NC_000012.12:g.57080910del, NC_000012.12:g.57080910dup, NC_000012.12:g.57080909_57080910dup, NC_000012.12:g.57080908_57080910dup, NC_000012.12:g.57080903_57080910dup, NC_000012.11:g.57474688_57474693del, NC_000012.11:g.57474689_57474693del, NC_000012.11:g.57474690_57474693del, NC_000012.11:g.57474691_57474693del, NC_000012.11:g.57474692_57474693del, NC_000012.11:g.57474693del, NC_000012.11:g.57474693dup, NC_000012.11:g.57474692_57474693dup, NC_000012.11:g.57474691_57474693dup, NC_000012.11:g.57474686_57474693dup

Select item 14908906817.

rs1490890681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57058837 (GRCh38)
12:57452620 (GRCh37)
Canonical SPDI:: NC_000012.12:57058836:G:A
Gene:: NEMP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.57058837G>A, NC_000012.11:g.57452620G>A, XM_011538058.4:c.*1042C>T, XM_011538058.3:c.*1042C>T, XM_011538058.2:c.*1042C>T, XM_011538058.1:c.*1042C>T, XM_011538056.3:c.*1042C>T, XM_011538056.2:c.*1042C>T, XM_011538056.1:c.*1042C>T, NM_015257.3:c.*1042C>T, NM_015257.2:c.*1042C>T, NM_001130963.2:c.*1042C>T, NM_001130963.1:c.*1042C>T, XM_047428587.1:c.*1042C>T, XM_024448900.1:c.*1042C>T, XM_047428589.1:c.*1042C>T, XM_047428590.1:c.*1042C>T

Select item 14908119668.

rs1490811966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:57065866 (GRCh38)
12:57459649 (GRCh37)
Canonical SPDI:: NC_000012.12:57065865:G:A,NC_000012.12:57065865:G:C
Gene:: NEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57065866G>A, NC_000012.12:g.57065866G>C, NC_000012.11:g.57459649G>A, NC_000012.11:g.57459649G>C

Select item 14907221699.

rs1490722169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:57086878 (GRCh38)
12:57480661 (GRCh37)
Canonical SPDI:: NC_000012.12:57086877:G:A,NC_000012.12:57086877:G:T
Gene:: NEMP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.57086878G>A, NC_000012.12:g.57086878G>T, NC_000012.11:g.57480661G>A, NC_000012.11:g.57480661G>T, XM_047428587.1:c.-179C>T, XM_047428587.1:c.-179C>A

Select item 149069218210.

rs1490692182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:57084428 (GRCh38)
12:57478211 (GRCh37)
Canonical SPDI:: NC_000012.12:57084427:C:A
Gene:: NEMP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.57084428C>A, NC_000012.11:g.57478211C>A

Select item 149063552011.

rs1490635520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:57088410 (GRCh38)
12:57482193 (GRCh37)
Canonical SPDI:: NC_000012.12:57088409:C:A,NC_000012.12:57088409:C:G
Gene:: NAB2 (Varview), NEMP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00014/2 (TOMMO)
G=0.00034/1 (KOREAN)
G=0.00055/1 (Korea1K)
HGVS:: NC_000012.12:g.57088410C>A, NC_000012.12:g.57088410C>G, NC_000012.11:g.57482193C>A, NC_000012.11:g.57482193C>G, XM_011538058.4:c.-326G>T, XM_011538058.4:c.-326G>C, XM_011538058.3:c.-326G>T, XM_011538058.3:c.-326G>C, XM_011538058.2:c.-326G>T, XM_011538058.2:c.-326G>C, XM_011538058.1:c.-326G>T, XM_011538058.1:c.-326G>C, XM_011538056.3:c.-326G>T, XM_011538056.3:c.-326G>C, XM_011538056.2:c.-326G>T, XM_011538056.2:c.-326G>C, XM_011538056.1:c.-326G>T, XM_011538056.1:c.-326G>C, XM_011538060.3:c.-326G>T, XM_011538060.3:c.-326G>C, XM_011538060.2:c.-326G>T, XM_011538060.2:c.-326G>C, XM_011538060.1:c.-326G>T, XM_011538060.1:c.-326G>C

Select item 149055475612.

rs1490554756 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:57087567 (GRCh38)
12:57481350 (GRCh37)
Canonical SPDI:: NC_000012.12:57087566:A:G
Gene:: NAB2 (Varview), NEMP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57087567A>G, NC_000012.11:g.57481350A>G

Select item 149046890613.

rs1490468906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57070304 (GRCh38)
12:57464087 (GRCh37)
Canonical SPDI:: NC_000012.12:57070303:C:T
Gene:: NEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.57070304C>T, NC_000012.11:g.57464087C>T

Select item 149045724614.

rs1490457246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57057206 (GRCh38)
12:57450989 (GRCh37)
Canonical SPDI:: NC_000012.12:57057205:T:C
Gene:: NEMP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.57057206T>C, NC_000012.11:g.57450989T>C, XM_011538058.4:c.*2673A>G, XM_011538058.3:c.*2673A>G, XM_011538058.2:c.*2673A>G, XM_011538058.1:c.*2673A>G, XM_011538056.3:c.*2673A>G, XM_011538056.2:c.*2673A>G, XM_011538056.1:c.*2673A>G, NM_015257.3:c.*2673A>G, NM_015257.2:c.*2673A>G, NM_001130963.2:c.*2673A>G, NM_001130963.1:c.*2673A>G, XM_047428587.1:c.*2673A>G, XM_024448900.1:c.*2673A>G, XM_047428589.1:c.*2673A>G, XM_047428590.1:c.*2673A>G

Select item 149026371815.

rs1490263718 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTAGTTTAAAAAAACGAGGCTGGGCAC>- [Show Flanks]
Chromosome:: 12:57081608 (GRCh38)
12:57475391 (GRCh37)
Canonical SPDI:: NC_000012.12:57081604:CACATTAGTTTAAAAAAACGAGGCTGGGCAC:CAC
Gene:: NEMP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CAC=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.57081608_57081635del, NC_000012.11:g.57475391_57475418del

Select item 149023124716.

rs1490231247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:57085809 (GRCh38)
12:57479592 (GRCh37)
Canonical SPDI:: NC_000012.12:57085808:A:C,NC_000012.12:57085808:A:G
Gene:: NEMP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57085809A>C, NC_000012.12:g.57085809A>G, NC_000012.11:g.57479592A>C, NC_000012.11:g.57479592A>G

Select item 149010576417.

rs1490105764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:57088011 (GRCh38)
12:57481794 (GRCh37)
Canonical SPDI:: NC_000012.12:57088010:A:C
Gene:: NAB2 (Varview), NEMP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57088011A>C, NC_000012.11:g.57481794A>C, XM_011538058.4:c.74T>G, XM_011538058.3:c.74T>G, XM_011538058.2:c.74T>G, XM_011538058.1:c.74T>G, XM_011538056.3:c.74T>G, XM_011538056.2:c.74T>G, XM_011538056.1:c.74T>G, XM_011538060.3:c.74T>G, XM_011538060.2:c.74T>G, XM_011538060.1:c.74T>G, XP_011536360.1:p.Leu25Arg, XP_011536358.1:p.Leu25Arg, XP_011536362.1:p.Leu25Arg

Select item 148997494418.

rs1489974944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:57068722 (GRCh38)
12:57462505 (GRCh37)
Canonical SPDI:: NC_000012.12:57068721:C:A,NC_000012.12:57068721:C:G,NC_000012.12:57068721:C:T
Gene:: NEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00055/1 (Korea1K)
T=0.00068/2 (KOREAN)
HGVS:: NC_000012.12:g.57068722C>A, NC_000012.12:g.57068722C>G, NC_000012.12:g.57068722C>T, NC_000012.11:g.57462505C>A, NC_000012.11:g.57462505C>G, NC_000012.11:g.57462505C>T

Select item 148996099619.

rs1489960996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:57056851 (GRCh38)
12:57450634 (GRCh37)
Canonical SPDI:: NC_000012.12:57056850:C:A,NC_000012.12:57056850:C:T
Gene:: NEMP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.57056851C>A, NC_000012.12:g.57056851C>T, NC_000012.11:g.57450634C>A, NC_000012.11:g.57450634C>T, XM_011538058.4:c.*3028G>T, XM_011538058.4:c.*3028G>A, XM_011538058.3:c.*3028G>T, XM_011538058.3:c.*3028G>A, XM_011538058.2:c.*3028G>T, XM_011538058.2:c.*3028G>A, XM_011538058.1:c.*3028G>T, XM_011538058.1:c.*3028G>A, XM_011538056.3:c.*3028G>T, XM_011538056.3:c.*3028G>A, XM_011538056.2:c.*3028G>T, XM_011538056.2:c.*3028G>A, XM_011538056.1:c.*3028G>T, XM_011538056.1:c.*3028G>A, NM_015257.3:c.*3028G>T, NM_015257.3:c.*3028G>A, NM_015257.2:c.*3028G>T, NM_015257.2:c.*3028G>A, NM_001130963.2:c.*3028G>T, NM_001130963.2:c.*3028G>A, NM_001130963.1:c.*3028G>T, NM_001130963.1:c.*3028G>A, XM_047428587.1:c.*3028G>T, XM_047428587.1:c.*3028G>A, XM_024448900.1:c.*3028G>T, XM_024448900.1:c.*3028G>A, XM_047428589.1:c.*3028G>T, XM_047428589.1:c.*3028G>A, XM_047428590.1:c.*3028G>T, XM_047428590.1:c.*3028G>A

Select item 148990925120.

rs1489909251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:57057899 (GRCh38)
12:57451682 (GRCh37)
Canonical SPDI:: NC_000012.12:57057898:C:A
Gene:: NEMP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_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_000012.12:g.57057899C>A, NC_000012.11:g.57451682C>A, XM_011538058.4:c.*1980G>T, XM_011538058.3:c.*1980G>T, XM_011538058.2:c.*1980G>T, XM_011538058.1:c.*1980G>T, XM_011538056.3:c.*1980G>T, XM_011538056.2:c.*1980G>T, XM_011538056.1:c.*1980G>T, NM_015257.3:c.*1980G>T, NM_015257.2:c.*1980G>T, NM_001130963.2:c.*1980G>T, NM_001130963.1:c.*1980G>T, XM_047428587.1:c.*1980G>T, XM_024448900.1:c.*1980G>T, XM_047428589.1:c.*1980G>T, XM_047428590.1:c.*1980G>T

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