SNP Links for Nucleotide (Select 1128611492) - SNP

Links from Nucleotide

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Select item 14880366331.

rs1488036633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155318298 (GRCh38)
1:155288089 (GRCh37)
Canonical SPDI:: NC_000001.11:155318297:T:C
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155318298T>C, NC_000001.10:g.155288089T>C, NG_045218.1:g.14551T>C, NM_173639.1:c.*61A>G, NR_145424.1:n.594A>G, NR_145425.1:n.319A>G

Select item 14863918882.

rs1486391888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155322344 (GRCh38)
1:155292135 (GRCh37)
Canonical SPDI:: NC_000001.11:155322343:G:A
Gene:: RUSC1 (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155322344G>A, NC_000001.10:g.155292135G>A, NG_045218.1:g.18597G>A, XM_006711254.3:c.571G>A, XM_006711254.2:c.571G>A, XM_006711254.1:c.571G>A, XM_006711256.3:c.571G>A, XM_006711256.2:c.571G>A, XM_006711256.1:c.571G>A, XM_017000891.2:c.571G>A, XM_017000891.1:c.571G>A, NM_001105203.2:c.571G>A, NM_001105203.1:c.571G>A, NM_001105204.2:c.571G>A, NM_001105204.1:c.571G>A, XM_047416644.1:c.571G>A, XR_007058572.1:n.755G>A, NR_145424.1:n.193C>T, XP_006711317.1:p.Val191Ile, XP_006711319.1:p.Val191Ile, XP_016856380.1:p.Val191Ile, NP_001098673.1:p.Val191Ile, NP_001098674.1:p.Val191Ile, XP_047272600.1:p.Val191Ile

Select item 14858617933.

rs1485861793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:155317233 (GRCh38)
1:155287024 (GRCh37)
Canonical SPDI:: NC_000001.11:155317232:A:G
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_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_000001.11:g.155317233A>G, NC_000001.10:g.155287024A>G, NG_045218.1:g.13486A>G, NM_173639.1:c.*867T>C, NR_145424.1:n.1400T>C, NR_145425.1:n.1125T>C

Select item 14839118504.

rs1483911850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155316906 (GRCh38)
1:155286697 (GRCh37)
Canonical SPDI:: NC_000001.11:155316905:T:C
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000001.11:g.155316906T>C, NC_000001.10:g.155286697T>C, NG_045218.1:g.13159T>C, NM_173639.1:c.*1194A>G, NR_145424.1:n.1727A>G, NR_145425.1:n.1452A>G

Select item 14805585135.

rs1480558513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:155322415 (GRCh38)
1:155292206 (GRCh37)
Canonical SPDI:: NC_000001.11:155322414:G:A,NC_000001.11:155322414:G:C
Gene:: RUSC1 (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155322415G>A, NC_000001.11:g.155322415G>C, NC_000001.10:g.155292206G>A, NC_000001.10:g.155292206G>C, NG_045218.1:g.18668G>A, NG_045218.1:g.18668G>C, XM_006711254.3:c.642G>A, XM_006711254.3:c.642G>C, XM_006711254.2:c.642G>A, XM_006711254.2:c.642G>C, XM_006711254.1:c.642G>A, XM_006711254.1:c.642G>C, XM_006711256.3:c.642G>A, XM_006711256.3:c.642G>C, XM_006711256.2:c.642G>A, XM_006711256.2:c.642G>C, XM_006711256.1:c.642G>A, XM_006711256.1:c.642G>C, XM_017000891.2:c.642G>A, XM_017000891.2:c.642G>C, XM_017000891.1:c.642G>A, XM_017000891.1:c.642G>C, NM_001105203.2:c.642G>A, NM_001105203.2:c.642G>C, NM_001105203.1:c.642G>A, NM_001105203.1:c.642G>C, NM_001105204.2:c.642G>A, NM_001105204.2:c.642G>C, NM_001105204.1:c.642G>A, NM_001105204.1:c.642G>C, XM_047416644.1:c.642G>A, XM_047416644.1:c.642G>C, XR_007058572.1:n.826G>A, XR_007058572.1:n.826G>C, NR_145424.1:n.122C>T, NR_145424.1:n.122C>G, XP_006711317.1:p.Glu214Asp, XP_006711319.1:p.Glu214Asp, XP_016856380.1:p.Glu214Asp, NP_001098673.1:p.Glu214Asp, NP_001098674.1:p.Glu214Asp, XP_047272600.1:p.Glu214Asp

Select item 14796294106.

rs1479629410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:155317255 (GRCh38)
1:155287046 (GRCh37)
Canonical SPDI:: NC_000001.11:155317254:A:T
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.155317255A>T, NC_000001.10:g.155287046A>T, NG_045218.1:g.13508A>T, NM_173639.1:c.*845T>A, NR_145424.1:n.1378T>A, NR_145425.1:n.1103T>A

Select item 14791660967.

rs1479166096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155317571 (GRCh38)
1:155287362 (GRCh37)
Canonical SPDI:: NC_000001.11:155317570:C:T
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.155317571C>T, NC_000001.10:g.155287362C>T, NG_045218.1:g.13824C>T, NM_173639.1:c.*529G>A, NR_145424.1:n.1062G>A, NR_145425.1:n.787G>A

Select item 14789645118.

rs1478964511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:155318271 (GRCh38)
1:155288062 (GRCh37)
Canonical SPDI:: NC_000001.11:155318270:C:G
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000001.11:g.155318271C>G, NC_000001.10:g.155288062C>G, NG_045218.1:g.14524C>G, NM_002004.4:c.664C>G, NM_002004.3:c.664C>G, NM_001135821.2:c.664C>G, NM_001135821.1:c.664C>G, NM_001242824.2:c.466C>G, NM_001242824.1:c.466C>G, NM_001135822.2:c.466C>G, NM_001135822.1:c.466C>G, NM_001242825.2:c.151C>G, NM_001242825.1:c.151C>G, NM_001378425.1:c.466C>G, NM_001378424.1:c.466C>G, NM_173639.1:c.*88G>C, NR_145424.1:n.621G>C, NR_145425.1:n.346G>C, NP_001995.1:p.Leu222Val, NP_001129293.1:p.Leu222Val, NP_001229753.1:p.Leu156Val, NP_001129294.1:p.Leu156Val, NP_001229754.1:p.Leu51Val, NP_001365354.1:p.Leu156Val, NP_001365353.1:p.Leu156Val

Select item 14766133429.

rs1476613342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155317143 (GRCh38)
1:155286934 (GRCh37)
Canonical SPDI:: NC_000001.11:155317142:G:A
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.155317143G>A, NC_000001.10:g.155286934G>A, NG_045218.1:g.13396G>A, NM_173639.1:c.*957C>T, NR_145424.1:n.1490C>T, NR_145425.1:n.1215C>T

Select item 147448700310.

rs1474487003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155322270 (GRCh38)
1:155292061 (GRCh37)
Canonical SPDI:: NC_000001.11:155322269:C:T
Gene:: RUSC1 (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155322270C>T, NC_000001.10:g.155292061C>T, NG_045218.1:g.18523C>T, XM_006711254.3:c.497C>T, XM_006711254.2:c.497C>T, XM_006711254.1:c.497C>T, XM_006711256.3:c.497C>T, XM_006711256.2:c.497C>T, XM_006711256.1:c.497C>T, XM_017000891.2:c.497C>T, XM_017000891.1:c.497C>T, NM_001105203.2:c.497C>T, NM_001105203.1:c.497C>T, NM_001105204.2:c.497C>T, NM_001105204.1:c.497C>T, XM_047416644.1:c.497C>T, XR_007058572.1:n.681C>T, NR_145424.1:n.267G>A, XP_006711317.1:p.Ser166Phe, XP_006711319.1:p.Ser166Phe, XP_016856380.1:p.Ser166Phe, NP_001098673.1:p.Ser166Phe, NP_001098674.1:p.Ser166Phe, XP_047272600.1:p.Ser166Phe

Select item 147322764011.

rs1473227640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155322410 (GRCh38)
1:155292201 (GRCh37)
Canonical SPDI:: NC_000001.11:155322409:T:C
Gene:: RUSC1 (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000001.11:g.155322410T>C, NC_000001.10:g.155292201T>C, NG_045218.1:g.18663T>C, XM_006711254.3:c.637T>C, XM_006711254.2:c.637T>C, XM_006711254.1:c.637T>C, XM_006711256.3:c.637T>C, XM_006711256.2:c.637T>C, XM_006711256.1:c.637T>C, XM_017000891.2:c.637T>C, XM_017000891.1:c.637T>C, NM_001105203.2:c.637T>C, NM_001105203.1:c.637T>C, NM_001105204.2:c.637T>C, NM_001105204.1:c.637T>C, XM_047416644.1:c.637T>C, XR_007058572.1:n.821T>C, NR_145424.1:n.127A>G

Select item 146971128512.

rs1469711285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:155317268 (GRCh38)
1:155287059 (GRCh37)
Canonical SPDI:: NC_000001.11:155317267:G:C
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,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_000001.11:g.155317268G>C, NC_000001.10:g.155287059G>C, NG_045218.1:g.13521G>C, NM_173639.1:c.*832C>G, NR_145424.1:n.1365C>G, NR_145425.1:n.1090C>G

Select item 146886661213.

rs1468866612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155319852 (GRCh38)
1:155289643 (GRCh37)
Canonical SPDI:: NC_000001.11:155319851:T:C
Gene:: FDPS (Varview), RUSC1 (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000142/2 (TOMMO)
HGVS:: NC_000001.11:g.155319852T>C, NC_000001.10:g.155289643T>C, NG_045218.1:g.16105T>C, NM_002004.4:c.983T>C, NM_002004.3:c.983T>C, NM_001135821.2:c.983T>C, NM_001135821.1:c.983T>C, NM_001242824.2:c.785T>C, NM_001242824.1:c.785T>C, NM_001135822.2:c.785T>C, NM_001135822.1:c.785T>C, NM_001242825.2:c.470T>C, NM_001242825.1:c.470T>C, NM_001378425.1:c.785T>C, NM_001378424.1:c.785T>C, NM_173639.1:c.456A>G, NR_145424.1:n.446A>G, NR_145425.1:n.171A>G, NP_001995.1:p.Ile328Thr, NP_001129293.1:p.Ile328Thr, NP_001229753.1:p.Ile262Thr, NP_001129294.1:p.Ile262Thr, NP_001229754.1:p.Ile157Thr, NP_001365354.1:p.Ile262Thr, NP_001365353.1:p.Ile262Thr

Select item 146849767614.

rs1468497676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155317063 (GRCh38)
1:155286854 (GRCh37)
Canonical SPDI:: NC_000001.11:155317062:T:C
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.155317063T>C, NC_000001.10:g.155286854T>C, NG_045218.1:g.13316T>C, NM_173639.1:c.*1037A>G, NR_145424.1:n.1570A>G, NR_145425.1:n.1295A>G

Select item 146444347415.

rs1464443474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:155324163 (GRCh38)
1:155293954 (GRCh37)
Canonical SPDI:: NC_000001.11:155324162:G:A,NC_000001.11:155324162:G:C
Gene:: RUSC1 (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.155324163G>A, NC_000001.11:g.155324163G>C, NC_000001.10:g.155293954G>A, NC_000001.10:g.155293954G>C, NM_014328.4:c.-475G>A, NM_014328.4:c.-475G>C, XM_047416653.1:c.-255G>A, XM_047416653.1:c.-255G>C, NR_145424.1:n.14C>T, NR_145424.1:n.14C>G, NR_145426.1:n.14C>T, NR_145426.1:n.14C>G, NM_001278228.1:c.-630G>A, NM_001278228.1:c.-630G>C, NM_001105205.1:c.-255G>A, NM_001105205.1:c.-255G>C, NM_001278227.1:c.-475G>A, NM_001278227.1:c.-475G>C, NM_001278229.1:c.-475G>A, NM_001278229.1:c.-475G>C

Select item 146232158616.

rs1462321586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:155317347 (GRCh38)
1:155287138 (GRCh37)
Canonical SPDI:: NC_000001.11:155317346:A:G,NC_000001.11:155317346:A:T
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.155317347A>G, NC_000001.11:g.155317347A>T, NC_000001.10:g.155287138A>G, NC_000001.10:g.155287138A>T, NG_045218.1:g.13600A>G, NG_045218.1:g.13600A>T, NM_173639.1:c.*753T>C, NM_173639.1:c.*753T>A, NR_145424.1:n.1286T>C, NR_145424.1:n.1286T>A, NR_145425.1:n.1011T>C, NR_145425.1:n.1011T>A

Select item 145490734017.

rs1454907340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:155319878 (GRCh38)
1:155289669 (GRCh37)
Canonical SPDI:: NC_000001.11:155319877:G:C
Gene:: FDPS (Varview), RUSC1 (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155319878G>C, NC_000001.10:g.155289669G>C, NG_045218.1:g.16131G>C, NM_002004.4:c.1009G>C, NM_002004.3:c.1009G>C, NM_001135821.2:c.1009G>C, NM_001135821.1:c.1009G>C, NM_001242824.2:c.811G>C, NM_001242824.1:c.811G>C, NM_001135822.2:c.811G>C, NM_001135822.1:c.811G>C, NM_001242825.2:c.496G>C, NM_001242825.1:c.496G>C, NM_001378425.1:c.811G>C, NM_001378424.1:c.811G>C, NM_173639.1:c.430C>G, NR_145424.1:n.420C>G, NR_145425.1:n.145C>G, NP_001995.1:p.Val337Leu, NP_001129293.1:p.Val337Leu, NP_001229753.1:p.Val271Leu, NP_001129294.1:p.Val271Leu, NP_001229754.1:p.Val166Leu, NP_001365354.1:p.Val271Leu, NP_001365353.1:p.Val271Leu

Select item 145362545018.

rs1453625450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:155317851 (GRCh38)
1:155287642 (GRCh37)
Canonical SPDI:: NC_000001.11:155317850:A:G
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.155317851A>G, NC_000001.10:g.155287642A>G, NG_045218.1:g.14104A>G, NM_173639.1:c.*249T>C, NR_145424.1:n.782T>C, NR_145425.1:n.507T>C

Select item 145243354319.

rs1452433543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155317423 (GRCh38)
1:155287214 (GRCh37)
Canonical SPDI:: NC_000001.11:155317422:G:A
Gene:: FDPS (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_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_000001.11:g.155317423G>A, NC_000001.10:g.155287214G>A, NG_045218.1:g.13676G>A, NM_173639.1:c.*677C>T, NR_145424.1:n.1210C>T, NR_145425.1:n.935C>T

Select item 145213209920.

rs1452132099 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155321667 (GRCh38)
1:155291458 (GRCh37)
Canonical SPDI:: NC_000001.11:155321666:T:C
Gene:: RUSC1 (Varview), RUSC1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,non_coding_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_000001.11:g.155321667T>C, NC_000001.10:g.155291458T>C, NG_045218.1:g.17920T>C, XM_017000891.2:c.-107T>C, XM_017000891.1:c.-107T>C, XM_047416644.1:c.-107T>C, NR_145424.1:n.323A>G, NR_145426.1:n.128A>G, NM_001039517.1:c.-179A>G

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