SNP Links for Protein (Select 4503465) - SNP

Links from Protein

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Select item 14890889281.

rs1489088928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:147540437 (GRCh38)
4:148461589 (GRCh37)
Canonical SPDI:: NC_000004.12:147540436:C:T
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_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)
HGVS:: NC_000004.12:g.147540437C>T, NC_000004.11:g.148461589C>T, NG_013343.1:g.64521C>T, NM_001957.4:c.1095C>T, NM_001957.3:c.1095C>T, NR_045958.2:n.1246C>T, NR_045958.1:n.1426C>T, NM_001166055.2:c.768C>T, NM_001166055.1:c.768C>T, NR_148963.2:n.955C>T, NR_148963.1:n.1135C>T, NR_148964.2:n.756C>T, NR_148964.1:n.936C>T, NR_028596.1:n.1135C>T, NM_001256283.1:c.420C>T

Select item 14868307272.

rs1486830727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:147532671 (GRCh38)
4:148453823 (GRCh37)
Canonical SPDI:: NC_000004.12:147532670:C:T
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.147532671C>T, NC_000004.11:g.148453823C>T, NG_013343.1:g.56755C>T, NM_001957.4:c.714C>T, NM_001957.3:c.714C>T, NR_148963.2:n.574C>T, NR_148963.1:n.754C>T, NR_028596.1:n.754C>T, NM_001256283.1:c.39C>T

Select item 14839661713.

rs1483966171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:147485936 (GRCh38)
4:148407088 (GRCh37)
Canonical SPDI:: NC_000004.12:147485935:G:T
Gene:: EDNRA (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.147485936G>T, NC_000004.11:g.148407088G>T, NG_013343.1:g.10020G>T, NM_001957.4:c.255G>T, NM_001957.3:c.255G>T, NR_045958.2:n.605G>T, NR_045958.1:n.785G>T, NM_001166055.2:c.255G>T, NM_001166055.1:c.255G>T, NM_001354797.2:c.255G>T, NM_001354797.1:c.255G>T

Select item 14822549304.

rs1482254930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:147485796 (GRCh38)
4:148406948 (GRCh37)
Canonical SPDI:: NC_000004.12:147485795:A:G
Gene:: EDNRA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.147485796A>G, NC_000004.11:g.148406948A>G, NG_013343.1:g.9880A>G, NM_001957.4:c.115A>G, NM_001957.3:c.115A>G, NR_045958.2:n.465A>G, NR_045958.1:n.645A>G, NM_001166055.2:c.115A>G, NM_001166055.1:c.115A>G, NM_001354797.2:c.115A>G, NM_001354797.1:c.115A>G, NP_001948.1:p.Thr39Ala, NP_001159527.1:p.Thr39Ala, NP_001341726.1:p.Thr39Ala

Select item 14713331995.

rs1471333199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:147540449 (GRCh38)
4:148461601 (GRCh37)
Canonical SPDI:: NC_000004.12:147540448:G:C
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,coding_sequence_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_000004.12:g.147540449G>C, NC_000004.11:g.148461601G>C, NG_013343.1:g.64533G>C, NM_001957.4:c.1107G>C, NM_001957.3:c.1107G>C, NR_045958.2:n.1258G>C, NR_045958.1:n.1438G>C, NM_001166055.2:c.780G>C, NM_001166055.1:c.780G>C, NR_148963.2:n.967G>C, NR_148963.1:n.1147G>C, NR_148964.2:n.768G>C, NR_148964.1:n.948G>C, NR_028596.1:n.1147G>C, NM_001256283.1:c.432G>C

Select item 14694533766.

rs1469453376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:147535885 (GRCh38)
4:148457037 (GRCh37)
Canonical SPDI:: NC_000004.12:147535884:A:C
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.147535885A>C, NC_000004.11:g.148457037A>C, NG_013343.1:g.59969A>C, NM_001957.4:c.756A>C, NM_001957.3:c.756A>C, NR_045958.2:n.907A>C, NR_045958.1:n.1087A>C, NM_001166055.2:c.429A>C, NM_001166055.1:c.429A>C, NR_148963.2:n.616A>C, NR_148963.1:n.796A>C, NR_148964.2:n.417A>C, NR_148964.1:n.597A>C, NR_028596.1:n.796A>C, NM_001256283.1:c.81A>C, NP_001948.1:p.Gln252His, NP_001159527.1:p.Gln143His

Select item 14620595377.

rs1462059537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:147535944 (GRCh38)
4:148457096 (GRCh37)
Canonical SPDI:: NC_000004.12:147535943:C:T
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.147535944C>T, NC_000004.11:g.148457096C>T, NG_013343.1:g.60028C>T, NM_001957.4:c.815C>T, NM_001957.3:c.815C>T, NR_045958.2:n.966C>T, NR_045958.1:n.1146C>T, NM_001166055.2:c.488C>T, NM_001166055.1:c.488C>T, NR_148963.2:n.675C>T, NR_148963.1:n.855C>T, NR_148964.2:n.476C>T, NR_148964.1:n.656C>T, NR_028596.1:n.855C>T, NM_001256283.1:c.140C>T, NP_001948.1:p.Ala272Val, NP_001159527.1:p.Ala163Val

Select item 14594358388.

rs1459435838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:147540422 (GRCh38)
4:148461574 (GRCh37)
Canonical SPDI:: NC_000004.12:147540421:G:T
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000004.12:g.147540422G>T, NC_000004.11:g.148461574G>T, NG_013343.1:g.64506G>T, NM_001957.4:c.1080G>T, NM_001957.3:c.1080G>T, NR_045958.2:n.1231G>T, NR_045958.1:n.1411G>T, NM_001166055.2:c.753G>T, NM_001166055.1:c.753G>T, NR_148963.2:n.940G>T, NR_148963.1:n.1120G>T, NR_148964.2:n.741G>T, NR_148964.1:n.921G>T, NR_028596.1:n.1120G>T, NM_001256283.1:c.405G>T, NP_001948.1:p.Met360Ile, NP_001159527.1:p.Met251Ile

Select item 14571109289.

rs1457110928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:147535936 (GRCh38)
4:148457088 (GRCh37)
Canonical SPDI:: NC_000004.12:147535935:G:A
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00006/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.147535936G>A, NC_000004.11:g.148457088G>A, NG_013343.1:g.60020G>A, NM_001957.4:c.807G>A, NM_001957.3:c.807G>A, NR_045958.2:n.958G>A, NR_045958.1:n.1138G>A, NM_001166055.2:c.480G>A, NM_001166055.1:c.480G>A, NR_148963.2:n.667G>A, NR_148963.1:n.847G>A, NR_148964.2:n.468G>A, NR_148964.1:n.648G>A, NR_028596.1:n.847G>A, NM_001256283.1:c.132G>A

Select item 145632879610.

rs1456328796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:147539931 (GRCh38)
4:148461083 (GRCh37)
Canonical SPDI:: NC_000004.12:147539930:A:G
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.147539931A>G, NC_000004.11:g.148461083A>G, NG_013343.1:g.64015A>G, NM_001957.4:c.1015A>G, NM_001957.3:c.1015A>G, NR_045958.2:n.1166A>G, NR_045958.1:n.1346A>G, NM_001166055.2:c.688A>G, NM_001166055.1:c.688A>G, NR_148963.2:n.875A>G, NR_148963.1:n.1055A>G, NR_148964.2:n.676A>G, NR_148964.1:n.856A>G, NR_028596.1:n.1055A>G, NM_001256283.1:c.340A>G, NP_001948.1:p.Asn339Asp, NP_001159527.1:p.Asn230Asp

Select item 144956183311.

rs1449561833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:147532683 (GRCh38)
4:148453835 (GRCh37)
Canonical SPDI:: NC_000004.12:147532682:T:C
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.147532683T>C, NC_000004.11:g.148453835T>C, NG_013343.1:g.56767T>C, NM_001957.4:c.726T>C, NM_001957.3:c.726T>C, NR_148963.2:n.586T>C, NR_148963.1:n.766T>C, NR_028596.1:n.766T>C, NM_001256283.1:c.51T>C

Select item 144806081712.

rs1448060817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:147519947 (GRCh38)
4:148441099 (GRCh37)
Canonical SPDI:: NC_000004.12:147519946:G:A
Gene:: EDNRA (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.147519947G>A, NC_000004.11:g.148441099G>A, NG_013343.1:g.44031G>A, NM_001957.4:c.517G>A, NM_001957.3:c.517G>A, NR_045958.2:n.867G>A, NR_045958.1:n.1047G>A, NR_148963.2:n.377G>A, NR_148963.1:n.557G>A, NR_148964.2:n.377G>A, NR_148964.1:n.557G>A, NM_001354797.2:c.517G>A, NM_001354797.1:c.517G>A, NR_028596.1:n.557G>A, NM_001256283.1:c.-159G>A, NP_001948.1:p.Val173Ile, NP_001341726.1:p.Val173Ile

Select item 144321965013.

rs1443219650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:147485697 (GRCh38)
4:148406849 (GRCh37)
Canonical SPDI:: NC_000004.12:147485696:C:T
Gene:: EDNRA (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000032/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.147485697C>T, NC_000004.11:g.148406849C>T, NG_013343.1:g.9781C>T, NM_001957.4:c.16C>T, NM_001957.3:c.16C>T, NR_045958.2:n.366C>T, NR_045958.1:n.546C>T, NM_001166055.2:c.16C>T, NM_001166055.1:c.16C>T, NM_001354797.2:c.16C>T, NM_001354797.1:c.16C>T, NP_001948.1:p.Leu6Phe, NP_001159527.1:p.Leu6Phe, NP_001341726.1:p.Leu6Phe

Select item 144181970014.

rs1441819700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:147542486 (GRCh38)
4:148463638 (GRCh37)
Canonical SPDI:: NC_000004.12:147542485:C:T
Gene:: EDNRA (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_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.147542486C>T, NC_000004.11:g.148463638C>T, NG_013343.1:g.66570C>T, NM_001957.4:c.1152C>T, NM_001957.3:c.1152C>T, NR_045958.2:n.1303C>T, NR_045958.1:n.1483C>T, NM_001166055.2:c.825C>T, NM_001166055.1:c.825C>T, NR_148963.2:n.1012C>T, NR_148963.1:n.1192C>T, NR_148964.2:n.813C>T, NR_148964.1:n.993C>T, NR_028596.1:n.1192C>T, NM_001256283.1:c.477C>T

Select item 144165156015.

rs1441651560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:147485988 (GRCh38)
4:148407140 (GRCh37)
Canonical SPDI:: NC_000004.12:147485987:A:G
Gene:: EDNRA (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.147485988A>G, NC_000004.11:g.148407140A>G, NG_013343.1:g.10072A>G, NM_001957.4:c.307A>G, NM_001957.3:c.307A>G, NR_045958.2:n.657A>G, NR_045958.1:n.837A>G, NM_001166055.2:c.307A>G, NM_001166055.1:c.307A>G, NM_001354797.2:c.307A>G, NM_001354797.1:c.307A>G, NP_001948.1:p.Arg103Gly, NP_001159527.1:p.Arg103Gly, NP_001341726.1:p.Arg103Gly

Select item 143726207416.

rs1437262074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:147535955 (GRCh38)
4:148457107 (GRCh37)
Canonical SPDI:: NC_000004.12:147535954:A:G
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.147535955A>G, NC_000004.11:g.148457107A>G, NG_013343.1:g.60039A>G, NM_001957.4:c.826A>G, NM_001957.3:c.826A>G, NR_045958.2:n.977A>G, NR_045958.1:n.1157A>G, NM_001166055.2:c.499A>G, NM_001166055.1:c.499A>G, NR_148963.2:n.686A>G, NR_148963.1:n.866A>G, NR_148964.2:n.487A>G, NR_148964.1:n.667A>G, NR_028596.1:n.866A>G, NM_001256283.1:c.151A>G, NP_001948.1:p.Thr276Ala, NP_001159527.1:p.Thr167Ala

Select item 142938897917.

rs1429388979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:147539948 (GRCh38)
4:148461100 (GRCh37)
Canonical SPDI:: NC_000004.12:147539947:T:G
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_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_000004.12:g.147539948T>G, NC_000004.11:g.148461100T>G, NG_013343.1:g.64032T>G, NM_001957.4:c.1032T>G, NM_001957.3:c.1032T>G, NR_045958.2:n.1183T>G, NR_045958.1:n.1363T>G, NM_001166055.2:c.705T>G, NM_001166055.1:c.705T>G, NR_148963.2:n.892T>G, NR_148963.1:n.1072T>G, NR_148964.2:n.693T>G, NR_148964.1:n.873T>G, NR_028596.1:n.1072T>G, NM_001256283.1:c.357T>G

Select item 142752078018.

rs1427520780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:147485838 (GRCh38)
4:148406990 (GRCh37)
Canonical SPDI:: NC_000004.12:147485837:C:T
Gene:: EDNRA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.147485838C>T, NC_000004.11:g.148406990C>T, NG_013343.1:g.9922C>T, NM_001957.4:c.157C>T, NM_001957.3:c.157C>T, NR_045958.2:n.507C>T, NR_045958.1:n.687C>T, NM_001166055.2:c.157C>T, NM_001166055.1:c.157C>T, NM_001354797.2:c.157C>T, NM_001354797.1:c.157C>T, NP_001948.1:p.Gln53Ter, NP_001159527.1:p.Gln53Ter, NP_001341726.1:p.Gln53Ter

Select item 142217639419.

rs1422176394 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:147540405 (GRCh38)
4:148461557 (GRCh37)
Canonical SPDI:: NC_000004.12:147540404:A:G
Gene:: EDNRA (Varview), LOC124900795 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.147540405A>G, NC_000004.11:g.148461557A>G, NG_013343.1:g.64489A>G, NM_001957.4:c.1063A>G, NM_001957.3:c.1063A>G, NR_045958.2:n.1214A>G, NR_045958.1:n.1394A>G, NM_001166055.2:c.736A>G, NM_001166055.1:c.736A>G, NR_148963.2:n.923A>G, NR_148963.1:n.1103A>G, NR_148964.2:n.724A>G, NR_148964.1:n.904A>G, NR_028596.1:n.1103A>G, NM_001256283.1:c.388A>G, NP_001948.1:p.Ile355Val, NP_001159527.1:p.Ile246Val

Select item 142000880520.

rs1420008805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:147542581 (GRCh38)
4:148463733 (GRCh37)
Canonical SPDI:: NC_000004.12:147542580:A:G
Gene:: EDNRA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.147542581A>G, NC_000004.11:g.148463733A>G, NG_013343.1:g.66665A>G, NM_001957.4:c.1247A>G, NM_001957.3:c.1247A>G, NR_045958.2:n.1398A>G, NR_045958.1:n.1578A>G, NM_001166055.2:c.920A>G, NM_001166055.1:c.920A>G, NR_148963.2:n.1107A>G, NR_148963.1:n.1287A>G, NR_148964.2:n.908A>G, NR_148964.1:n.1088A>G, NR_028596.1:n.1287A>G, NM_001256283.1:c.572A>G, NP_001948.1:p.Asn416Ser, NP_001159527.1:p.Asn307Ser

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