SNP Links for Protein (Select 767932638) - SNP

Links from Protein

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Select item 14895767251.

rs1489576725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:68951604 (GRCh38)
4:69817322 (GRCh37)
Canonical SPDI:: NC_000004.12:68951603:C:A,NC_000004.12:68951603:C:T
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68951604C>A, NC_000004.12:g.68951604C>T, NC_000004.11:g.69817322C>A, NC_000004.11:g.69817322C>T, NT_167250.2:g.527623C>A, NT_167250.2:g.527623C>T, NT_167250.1:g.529573C>A, NT_167250.1:g.529573C>T, NM_024743.4:c.157G>T, NM_024743.4:c.157G>A, NM_024743.3:c.157G>T, NM_024743.3:c.157G>A, XM_011532247.3:c.157G>T, XM_011532247.3:c.157G>A, XM_011532247.2:c.157G>T, XM_011532247.2:c.157G>A, XM_011532247.1:c.157G>T, XM_011532247.1:c.157G>A, NR_024010.2:n.201G>T, NR_024010.2:n.201G>A, NR_024010.1:n.188G>T, NR_024010.1:n.188G>A, NP_079019.3:p.Val53Leu, NP_079019.3:p.Val53Ile, XP_011530549.1:p.Val53Leu, XP_011530549.1:p.Val53Ile

Select item 14895423012.

rs1489542301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:68930702 (GRCh38)
4:69796420 (GRCh37)
Canonical SPDI:: NC_000004.12:68930701:T:G
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68930702T>G, NC_000004.11:g.69796420T>G, NG_083391.1:g.1343T>G, NT_167250.2:g.506721T>G, NT_167250.1:g.508671T>G, NM_024743.4:c.1148A>C, NM_024743.3:c.1148A>C, XM_011532247.3:c.1166A>C, XM_011532247.2:c.1166A>C, XM_011532247.1:c.1166A>C, NR_024010.2:n.1289A>C, NR_024010.1:n.1276A>C, XM_047416177.1:c.281A>C, NP_079019.3:p.Tyr383Ser, XP_011530549.1:p.Tyr389Ser, XP_047272133.1:p.Tyr94Ser

Select item 14872724103.

rs1487272410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:68951653 (GRCh38)
4:69817371 (GRCh37)
Canonical SPDI:: NC_000004.12:68951652:C:T
Gene:: UGT2A3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68951653C>T, NC_000004.11:g.69817371C>T, NT_167250.2:g.527672C>T, NT_167250.1:g.529622C>T, NM_024743.4:c.108G>A, NM_024743.3:c.108G>A, XM_011532247.3:c.108G>A, XM_011532247.2:c.108G>A, XM_011532247.1:c.108G>A, NR_024010.2:n.152G>A, NR_024010.1:n.139G>A, NP_079019.3:p.Trp36Ter, XP_011530549.1:p.Trp36Ter

Select item 14870966864.

rs1487096686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:68951639 (GRCh38)
4:69817357 (GRCh37)
Canonical SPDI:: NC_000004.12:68951638:A:T
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68951639A>T, NC_000004.11:g.69817357A>T, NT_167250.2:g.527658A>T, NT_167250.1:g.529608A>T, NM_024743.4:c.122T>A, NM_024743.3:c.122T>A, XM_011532247.3:c.122T>A, XM_011532247.2:c.122T>A, XM_011532247.1:c.122T>A, NR_024010.2:n.166T>A, NR_024010.1:n.153T>A, NP_079019.3:p.Val41Asp, XP_011530549.1:p.Val41Asp

Select item 14869462255.

rs1486946225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68951333 (GRCh38)
4:69817051 (GRCh37)
Canonical SPDI:: NC_000004.12:68951332:T:C
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68951333T>C, NC_000004.11:g.69817051T>C, NT_167250.2:g.527352T>C, NT_167250.1:g.529302T>C, NM_024743.4:c.428A>G, NM_024743.3:c.428A>G, XM_011532247.3:c.428A>G, XM_011532247.2:c.428A>G, XM_011532247.1:c.428A>G, NR_024010.2:n.472A>G, NR_024010.1:n.459A>G, NP_079019.3:p.Tyr143Cys, XP_011530549.1:p.Tyr143Cys

Select item 14849868356.

rs1484986835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:68945365 (GRCh38)
4:69811083 (GRCh37)
Canonical SPDI:: NC_000004.12:68945364:G:A
Gene:: UGT2A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68945365G>A, NC_000004.11:g.69811083G>A, NT_167250.2:g.521384G>A, NT_167250.1:g.523334G>A, NM_024743.4:c.805C>T, NM_024743.3:c.805C>T, XM_011532247.3:c.805C>T, XM_011532247.2:c.805C>T, XM_011532247.1:c.805C>T, NR_024010.2:n.849C>T, NR_024010.1:n.836C>T, XM_047416177.1:c.-63C>T, NP_079019.3:p.Gln269Ter, XP_011530549.1:p.Gln269Ter

Select item 14838435767.

rs1483843576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:68931166 (GRCh38)
4:69796884 (GRCh37)
Canonical SPDI:: NC_000004.12:68931165:T:G
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68931166T>G, NC_000004.11:g.69796884T>G, NT_167250.2:g.507185T>G, NT_167250.1:g.509135T>G, NM_024743.4:c.1073A>C, NM_024743.3:c.1073A>C, XM_011532247.3:c.1091A>C, XM_011532247.2:c.1091A>C, XM_011532247.1:c.1091A>C, NR_024010.2:n.1214A>C, NR_024010.1:n.1201A>C, XM_047416177.1:c.206A>C, NP_079019.3:p.Asn358Thr, XP_011530549.1:p.Asn364Thr, XP_047272133.1:p.Asn69Thr

Select item 14834898178.

rs1483489817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:68929939 (GRCh38)
4:69795657 (GRCh37)
Canonical SPDI:: NC_000004.12:68929938:G:A
Gene:: UGT2A3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000004.12:g.68929939G>A, NC_000004.11:g.69795657G>A, NG_083391.1:g.580G>A, NT_167250.2:g.505958G>A, NT_167250.1:g.507908G>A, NM_024743.4:c.1458C>T, NM_024743.3:c.1458C>T, XM_011532247.3:c.1476C>T, XM_011532247.2:c.1476C>T, XM_011532247.1:c.1476C>T, NR_024010.2:n.1599C>T, NR_024010.1:n.1586C>T, XM_047416177.1:c.591C>T

Select item 14825419579.

rs1482541957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:68951400 (GRCh38)
4:69817118 (GRCh37)
Canonical SPDI:: NC_000004.12:68951399:A:G,NC_000004.12:68951399:A:T
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.68951400A>G, NC_000004.12:g.68951400A>T, NC_000004.11:g.69817118A>G, NC_000004.11:g.69817118A>T, NT_167250.2:g.527419A>G, NT_167250.2:g.527419A>T, NT_167250.1:g.529369A>G, NT_167250.1:g.529369A>T, NM_024743.4:c.361T>C, NM_024743.4:c.361T>A, NM_024743.3:c.361T>C, NM_024743.3:c.361T>A, XM_011532247.3:c.361T>C, XM_011532247.3:c.361T>A, XM_011532247.2:c.361T>C, XM_011532247.2:c.361T>A, XM_011532247.1:c.361T>C, XM_011532247.1:c.361T>A, NR_024010.2:n.405T>C, NR_024010.2:n.405T>A, NR_024010.1:n.392T>C, NR_024010.1:n.392T>A, NP_079019.3:p.Leu121Ile, XP_011530549.1:p.Leu121Ile

Select item 148187604410.

rs1481876044 [Homo sapiens]

Variant type:: INS
Alleles:: ->AATGTTTTT [Show Flanks]
Chromosome:: 4:68930070 (GRCh38)
4:69795789 (GRCh37)
Canonical SPDI:: NC_000004.12:68930070::AATGTTTTT
Gene:: UGT2A3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_insertion
HGVS:: NC_000004.12:g.68930070_68930071insAATGTTTTT, NC_000004.11:g.69795788_69795789insAATGTTTTT, NG_083391.1:g.711_712insAATGTTTTT, NT_167250.2:g.506089_506090insAATGTTTTT, NT_167250.1:g.508039_508040insAATGTTTTT, NM_024743.4:c.1326_1327insAAAAACATT, NM_024743.3:c.1326_1327insAAAAACATT, XM_011532247.3:c.1344_1345insAAAAACATT, XM_011532247.2:c.1344_1345insAAAAACATT, XM_011532247.1:c.1344_1345insAAAAACATT, NR_024010.2:n.1467_1468insAAAAACATT, NR_024010.1:n.1454_1455insAAAAACATT, XM_047416177.1:c.459_460insAAAAACATT, NP_079019.3:p.Leu443_Ser444insLysAsnIle, XP_011530549.1:p.Leu449_Ser450insLysAsnIle, XP_047272133.1:p.Leu154_Ser155insLysAsnIle

Select item 148107795511.

rs1481077955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68931225 (GRCh38)
4:69796943 (GRCh37)
Canonical SPDI:: NC_000004.12:68931224:T:C
Gene:: UGT2A3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_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_000004.12:g.68931225T>C, NC_000004.11:g.69796943T>C, NT_167250.2:g.507244T>C, NT_167250.1:g.509194T>C, NM_024743.4:c.1014A>G, NM_024743.3:c.1014A>G, XM_011532247.3:c.1032A>G, XM_011532247.2:c.1032A>G, XM_011532247.1:c.1032A>G, NR_024010.2:n.1155A>G, NR_024010.1:n.1142A>G, XM_047416177.1:c.147A>G

Select item 148057562212.

rs1480575622 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTGAAAGATT [Show Flanks]
Chromosome:: 4:68945426 (GRCh38)
4:69811145 (GRCh37)
Canonical SPDI:: NC_000004.12:68945426::TTGAAAGATT
Gene:: UGT2A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
HGVS:: NC_000004.12:g.68945426_68945427insTTGAAAGATT, NC_000004.11:g.69811144_69811145insTTGAAAGATT, NT_167250.2:g.521445_521446insTTGAAAGATT, NT_167250.1:g.523395_523396insTTGAAAGATT, NM_024743.4:c.743_744insAATCTTTCAA, NM_024743.3:c.743_744insAATCTTTCAA, XM_011532247.3:c.743_744insAATCTTTCAA, XM_011532247.2:c.743_744insAATCTTTCAA, XM_011532247.1:c.743_744insAATCTTTCAA, NR_024010.2:n.787_788insAATCTTTCAA, NR_024010.1:n.774_775insAATCTTTCAA, XM_047416177.1:c.-125_-124insAATCTTTCAA, NP_079019.3:p.Gly249fs, XP_011530549.1:p.Gly249fs

Select item 147862572613.

rs1478625726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68930076 (GRCh38)
4:69795794 (GRCh37)
Canonical SPDI:: NC_000004.12:68930075:T:C
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68930076T>C, NC_000004.11:g.69795794T>C, NG_083391.1:g.717T>C, NT_167250.2:g.506095T>C, NT_167250.1:g.508045T>C, NM_024743.4:c.1321A>G, NM_024743.3:c.1321A>G, XM_011532247.3:c.1339A>G, XM_011532247.2:c.1339A>G, XM_011532247.1:c.1339A>G, NR_024010.2:n.1462A>G, NR_024010.1:n.1449A>G, XM_047416177.1:c.454A>G, NP_079019.3:p.Met441Val, XP_011530549.1:p.Met447Val, XP_047272133.1:p.Met152Val

Select item 147821614114.

rs1478216141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:68945383 (GRCh38)
4:69811101 (GRCh37)
Canonical SPDI:: NC_000004.12:68945382:C:A,NC_000004.12:68945382:C:T
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.68945383C>A, NC_000004.12:g.68945383C>T, NC_000004.11:g.69811101C>A, NC_000004.11:g.69811101C>T, NT_167250.2:g.521402C>A, NT_167250.2:g.521402C>T, NT_167250.1:g.523352C>A, NT_167250.1:g.523352C>T, NM_024743.4:c.787G>T, NM_024743.4:c.787G>A, NM_024743.3:c.787G>T, NM_024743.3:c.787G>A, XM_011532247.3:c.787G>T, XM_011532247.3:c.787G>A, XM_011532247.2:c.787G>T, XM_011532247.2:c.787G>A, XM_011532247.1:c.787G>T, XM_011532247.1:c.787G>A, NR_024010.2:n.831G>T, NR_024010.2:n.831G>A, NR_024010.1:n.818G>T, NR_024010.1:n.818G>A, XM_047416177.1:c.-81G>T, XM_047416177.1:c.-81G>A, NP_079019.3:p.Glu263Ter, NP_079019.3:p.Glu263Lys, XP_011530549.1:p.Glu263Ter, XP_011530549.1:p.Glu263Lys

Select item 147663969315.

rs1476639693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:68951386 (GRCh38)
4:69817104 (GRCh37)
Canonical SPDI:: NC_000004.12:68951385:A:C
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68951386A>C, NC_000004.11:g.69817104A>C, NT_167250.2:g.527405A>C, NT_167250.1:g.529355A>C, NM_024743.4:c.375T>G, NM_024743.3:c.375T>G, XM_011532247.3:c.375T>G, XM_011532247.2:c.375T>G, XM_011532247.1:c.375T>G, NR_024010.2:n.419T>G, NR_024010.1:n.406T>G, NP_079019.3:p.Cys125Trp, XP_011530549.1:p.Cys125Trp

Select item 147645023616.

rs1476450236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68951291 (GRCh38)
4:69817009 (GRCh37)
Canonical SPDI:: NC_000004.12:68951290:A:G
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68951291A>G, NC_000004.11:g.69817009A>G, NT_167250.2:g.527310A>G, NT_167250.1:g.529260A>G, NM_024743.4:c.470T>C, NM_024743.3:c.470T>C, XM_011532247.3:c.470T>C, XM_011532247.2:c.470T>C, XM_011532247.1:c.470T>C, NR_024010.2:n.514T>C, NR_024010.1:n.501T>C, NP_079019.3:p.Leu157Pro, XP_011530549.1:p.Leu157Pro

Select item 147603125917.

rs1476031259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:68951237 (GRCh38)
4:69816955 (GRCh37)
Canonical SPDI:: NC_000004.12:68951236:C:A
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.68951237C>A, NC_000004.11:g.69816955C>A, NT_167250.2:g.527256C>A, NT_167250.1:g.529206C>A, NM_024743.4:c.524G>T, NM_024743.3:c.524G>T, XM_011532247.3:c.524G>T, XM_011532247.2:c.524G>T, XM_011532247.1:c.524G>T, NR_024010.2:n.568G>T, NR_024010.1:n.555G>T, NP_079019.3:p.Gly175Val, XP_011530549.1:p.Gly175Val

Select item 147449255518.

rs1474492555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:68945325 (GRCh38)
4:69811043 (GRCh37)
Canonical SPDI:: NC_000004.12:68945324:G:A
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.68945325G>A, NC_000004.11:g.69811043G>A, NT_167250.2:g.521344G>A, NT_167250.1:g.523294G>A, NM_024743.4:c.845C>T, NM_024743.3:c.845C>T, XM_011532247.3:c.845C>T, XM_011532247.2:c.845C>T, XM_011532247.1:c.845C>T, NR_024010.2:n.889C>T, NR_024010.1:n.876C>T, XM_047416177.1:c.-23C>T, NP_079019.3:p.Pro282Leu, XP_011530549.1:p.Pro282Leu

Select item 147237232019.

rs1472372320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:68951659 (GRCh38)
4:69817377 (GRCh37)
Canonical SPDI:: NC_000004.12:68951658:G:A
Gene:: UGT2A3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.68951659G>A, NC_000004.11:g.69817377G>A, NT_167250.2:g.527678G>A, NT_167250.1:g.529628G>A, NM_024743.4:c.102C>T, NM_024743.3:c.102C>T, XM_011532247.3:c.102C>T, XM_011532247.2:c.102C>T, XM_011532247.1:c.102C>T, NR_024010.2:n.146C>T, NR_024010.1:n.133C>T

Select item 147097035120.

rs1470970351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:68930718 (GRCh38)
4:69796436 (GRCh37)
Canonical SPDI:: NC_000004.12:68930717:T:A
Gene:: UGT2A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.68930718T>A, NC_000004.11:g.69796436T>A, NG_083391.1:g.1359T>A, NT_167250.2:g.506737T>A, NT_167250.1:g.508687T>A, NM_024743.4:c.1132A>T, NM_024743.3:c.1132A>T, XM_011532247.3:c.1150A>T, XM_011532247.2:c.1150A>T, XM_011532247.1:c.1150A>T, NR_024010.2:n.1273A>T, NR_024010.1:n.1260A>T, XM_047416177.1:c.265A>T, NP_079019.3:p.Ile378Phe, XP_011530549.1:p.Ile384Phe, XP_047272133.1:p.Ile89Phe

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