SNP Links for Protein (Select 31377618) - SNP

Links from Protein

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Select item 14914598251.

rs1491459825 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 2:233618281 (GRCh38)
2:234526928 (GRCh37)
Canonical SPDI:: NC_000002.12:233618281::AT
Gene:: UGT1A8 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
HGVS:: NC_000002.12:g.233618281_233618282insAT, NC_000002.11:g.234526927_234526928insAT, NG_002601.2:g.33538_33539insAT, NM_019076.4:c.574_575insAT, NM_019076.5:c.574_575insAT, NP_061949.3:p.Arg192fs

Select item 14908294532.

rs1490829453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:233617944 (GRCh38)
2:234526590 (GRCh37)
Canonical SPDI:: NC_000002.12:233617943:C:T
Gene:: UGT1A8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233617944C>T, NC_000002.11:g.234526590C>T, NG_002601.2:g.33201C>T, NM_019076.4:c.237C>T, NM_019076.5:c.237C>T

Select item 14874690973.

rs1487469097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:233618451 (GRCh38)
2:234527097 (GRCh37)
Canonical SPDI:: NC_000002.12:233618450:A:G
Gene:: UGT1A8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233618451A>G, NC_000002.11:g.234527097A>G, NG_002601.2:g.33708A>G, NM_019076.4:c.744A>G, NM_019076.5:c.744A>G

Select item 14865953024.

rs1486595302 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:233618312 (GRCh38)
2:234526958 (GRCh37)
Canonical SPDI:: NC_000002.12:233618311:C:
Gene:: UGT1A8 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.233618312del, NC_000002.11:g.234526958del, NG_002601.2:g.33569del, NM_019076.4:c.605del, NM_019076.5:c.605del, NP_061949.3:p.Thr202fs

Select item 14833316675.

rs1483331667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:233618009 (GRCh38)
2:234526655 (GRCh37)
Canonical SPDI:: NC_000002.12:233618008:A:G
Gene:: UGT1A8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000354/6 (TOMMO)
HGVS:: NC_000002.12:g.233618009A>G, NC_000002.11:g.234526655A>G, NG_002601.2:g.33266A>G, NM_019076.4:c.302A>G, NM_019076.5:c.302A>G, NP_061949.3:p.Gln101Arg

Select item 14824223126.

rs1482422312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:233772303 (GRCh38)
2:234680949 (GRCh37)
Canonical SPDI:: NC_000002.12:233772302:A:G
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A1 (Varview), UGT1A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000002.12:g.233772303A>G, NC_000002.11:g.234680949A>G, NG_002601.2:g.187560A>G, NM_019076.4:c.1337A>G, NM_019076.5:c.1337A>G, NM_001072.3:c.1343A>G, NM_001072.4:c.1343A>G, NM_019075.2:c.1337A>G, NM_019075.4:c.1337A>G, NM_019075.3:c.1337A>G, NM_021027.2:c.1337A>G, NM_021027.3:c.1337A>G, NM_007120.2:c.1349A>G, NM_007120.3:c.1349A>G, NM_000463.2:c.1346A>G, NM_000463.3:c.1346A>G, NM_019077.2:c.1337A>G, NM_019077.3:c.1337A>G, NM_019093.2:c.1349A>G, NM_019093.4:c.1349A>G, NM_019093.3:c.1349A>G, NM_019078.1:c.1349A>G, NM_019078.2:c.1349A>G, NM_205862.1:c.542A>G, NM_205862.3:c.542A>G, NM_205862.2:c.542A>G, NG_051337.1:g.1642A>G, NG_033238.1:g.17031A>G, NP_061949.3:p.Asp446Gly, NP_001063.2:p.Asp448Gly, NP_061948.1:p.Asp446Gly, NP_066307.1:p.Asp446Gly, NP_009051.1:p.Asp450Gly, NP_000454.1:p.Asp449Gly, NP_061950.2:p.Asp446Gly, NP_061966.1:p.Asp450Gly, NP_061951.1:p.Asp450Gly, NP_995584.1:p.Asp181Gly

Select item 14815225867.

rs1481522586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:233618179 (GRCh38)
2:234526825 (GRCh37)
Canonical SPDI:: NC_000002.12:233618178:G:T
Gene:: UGT1A8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.233618179G>T, NC_000002.11:g.234526825G>T, NG_002601.2:g.33436G>T, NM_019076.4:c.472G>T, NM_019076.5:c.472G>T, NP_061949.3:p.Ala158Ser

Select item 14797350668.

rs1479735066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:233772400 (GRCh38)
2:234681046 (GRCh37)
Canonical SPDI:: NC_000002.12:233772399:C:T
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A1 (Varview), UGT1A3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233772400C>T, NC_000002.11:g.234681046C>T, NG_002601.2:g.187657C>T, NM_019076.4:c.1434C>T, NM_019076.5:c.1434C>T, NM_001072.3:c.1440C>T, NM_001072.4:c.1440C>T, NM_019075.2:c.1434C>T, NM_019075.4:c.1434C>T, NM_019075.3:c.1434C>T, NM_021027.2:c.1434C>T, NM_021027.3:c.1434C>T, NM_007120.2:c.1446C>T, NM_007120.3:c.1446C>T, NM_000463.2:c.1443C>T, NM_000463.3:c.1443C>T, NM_019077.2:c.1434C>T, NM_019077.3:c.1434C>T, NM_019093.2:c.1446C>T, NM_019093.4:c.1446C>T, NM_019093.3:c.1446C>T, NM_019078.1:c.1446C>T, NM_019078.2:c.1446C>T, NM_205862.1:c.639C>T, NM_205862.3:c.639C>T, NM_205862.2:c.639C>T, NG_051337.1:g.1739C>T, NG_033238.1:g.17128C>T

Select item 14769540989.

rs1476954098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:233617869 (GRCh38)
2:234526515 (GRCh37)
Canonical SPDI:: NC_000002.12:233617868:G:A,NC_000002.12:233617868:G:C
Gene:: UGT1A8 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.233617869G>A, NC_000002.12:g.233617869G>C, NC_000002.11:g.234526515G>A, NC_000002.11:g.234526515G>C, NG_002601.2:g.33126G>A, NG_002601.2:g.33126G>C, NM_019076.4:c.162G>A, NM_019076.4:c.162G>C, NM_019076.5:c.162G>A, NM_019076.5:c.162G>C, NP_061949.3:p.Glu54Asp

Select item 147658602110.

rs1476586021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:233618202 (GRCh38)
2:234526848 (GRCh37)
Canonical SPDI:: NC_000002.12:233618201:T:C
Gene:: UGT1A8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.233618202T>C, NC_000002.11:g.234526848T>C, NG_002601.2:g.33459T>C, NM_019076.4:c.495T>C, NM_019076.5:c.495T>C

Select item 147650032511.

rs1476500325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:233772338 (GRCh38)
2:234680984 (GRCh37)
Canonical SPDI:: NC_000002.12:233772337:T:C
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A1 (Varview), UGT1A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.233772338T>C, NC_000002.11:g.234680984T>C, NG_002601.2:g.187595T>C, NM_019076.4:c.1372T>C, NM_019076.5:c.1372T>C, NM_001072.3:c.1378T>C, NM_001072.4:c.1378T>C, NM_019075.2:c.1372T>C, NM_019075.4:c.1372T>C, NM_019075.3:c.1372T>C, NM_021027.2:c.1372T>C, NM_021027.3:c.1372T>C, NM_007120.2:c.1384T>C, NM_007120.3:c.1384T>C, NM_000463.2:c.1381T>C, NM_000463.3:c.1381T>C, NM_019077.2:c.1372T>C, NM_019077.3:c.1372T>C, NM_019093.2:c.1384T>C, NM_019093.4:c.1384T>C, NM_019093.3:c.1384T>C, NM_019078.1:c.1384T>C, NM_019078.2:c.1384T>C, NM_205862.1:c.577T>C, NM_205862.3:c.577T>C, NM_205862.2:c.577T>C, NG_051337.1:g.1677T>C, NG_033238.1:g.17066T>C, NP_061949.3:p.Trp458Arg, NP_001063.2:p.Trp460Arg, NP_061948.1:p.Trp458Arg, NP_066307.1:p.Trp458Arg, NP_009051.1:p.Trp462Arg, NP_000454.1:p.Trp461Arg, NP_061950.2:p.Trp458Arg, NP_061966.1:p.Trp462Arg, NP_061951.1:p.Trp462Arg, NP_995584.1:p.Trp193Arg

Select item 147260772512.

rs1472607725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:233617999 (GRCh38)
2:234526645 (GRCh37)
Canonical SPDI:: NC_000002.12:233617998:T:C
Gene:: UGT1A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233617999T>C, NC_000002.11:g.234526645T>C, NG_002601.2:g.33256T>C, NM_019076.4:c.292T>C, NM_019076.5:c.292T>C, NP_061949.3:p.Trp98Arg

Select item 146873874813.

rs1468738748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:233772356 (GRCh38)
2:234681002 (GRCh37)
Canonical SPDI:: NC_000002.12:233772355:A:C
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A1 (Varview), UGT1A3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233772356A>C, NC_000002.11:g.234681002A>C, NG_002601.2:g.187613A>C, NM_019076.4:c.1390A>C, NM_019076.5:c.1390A>C, NM_001072.3:c.1396A>C, NM_001072.4:c.1396A>C, NM_019075.2:c.1390A>C, NM_019075.4:c.1390A>C, NM_019075.3:c.1390A>C, NM_021027.2:c.1390A>C, NM_021027.3:c.1390A>C, NM_007120.2:c.1402A>C, NM_007120.3:c.1402A>C, NM_000463.2:c.1399A>C, NM_000463.3:c.1399A>C, NM_019077.2:c.1390A>C, NM_019077.3:c.1390A>C, NM_019093.2:c.1402A>C, NM_019093.4:c.1402A>C, NM_019093.3:c.1402A>C, NM_019078.1:c.1402A>C, NM_019078.2:c.1402A>C, NM_205862.1:c.595A>C, NM_205862.3:c.595A>C, NM_205862.2:c.595A>C, NG_051337.1:g.1695A>C, NG_033238.1:g.17084A>C

Select item 146868328014.

rs1468683280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:233767881 (GRCh38)
2:234676527 (GRCh37)
Canonical SPDI:: NC_000002.12:233767880:G:A,NC_000002.12:233767880:G:T
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A1 (Varview), UGT1A3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.233767881G>A, NC_000002.12:g.233767881G>T, NC_000002.11:g.234676527G>A, NC_000002.11:g.234676527G>T, NG_002601.2:g.183138G>A, NG_002601.2:g.183138G>T, NM_019076.4:c.1020G>A, NM_019076.4:c.1020G>T, NM_019076.5:c.1020G>A, NM_019076.5:c.1020G>T, NM_001072.3:c.1026G>A, NM_001072.3:c.1026G>T, NM_001072.4:c.1026G>A, NM_001072.4:c.1026G>T, NM_019075.2:c.1020G>A, NM_019075.2:c.1020G>T, NM_019075.4:c.1020G>A, NM_019075.4:c.1020G>T, NM_019075.3:c.1020G>A, NM_019075.3:c.1020G>T, NM_021027.2:c.1020G>A, NM_021027.2:c.1020G>T, NM_021027.3:c.1020G>A, NM_021027.3:c.1020G>T, NM_007120.2:c.1032G>A, NM_007120.2:c.1032G>T, NM_007120.3:c.1032G>A, NM_007120.3:c.1032G>T, NM_000463.2:c.1029G>A, NM_000463.2:c.1029G>T, NM_000463.3:c.1029G>A, NM_000463.3:c.1029G>T, NM_019093.2:c.1032G>A, NM_019093.2:c.1032G>T, NM_019093.4:c.1032G>A, NM_019093.4:c.1032G>T, NM_019093.3:c.1032G>A, NM_019093.3:c.1032G>T, NM_019077.2:c.1020G>A, NM_019077.2:c.1020G>T, NM_019077.3:c.1020G>A, NM_019077.3:c.1020G>T, NM_019078.1:c.1032G>A, NM_019078.1:c.1032G>T, NM_019078.2:c.1032G>A, NM_019078.2:c.1032G>T, NM_205862.1:c.225G>A, NM_205862.1:c.225G>T, NM_205862.3:c.225G>A, NM_205862.3:c.225G>T, NM_205862.2:c.225G>A, NM_205862.2:c.225G>T, NG_033238.1:g.12609G>A, NG_033238.1:g.12609G>T

Select item 146830281815.

rs1468302818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:233618530 (GRCh38)
2:234527176 (GRCh37)
Canonical SPDI:: NC_000002.12:233618529:A:C
Gene:: UGT1A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.233618530A>C, NC_000002.11:g.234527176A>C, NG_002601.2:g.33787A>C, NM_019076.4:c.823A>C, NM_019076.5:c.823A>C, NP_061949.3:p.Ile275Leu

Select item 146634181716.

rs1466341817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:233617901 (GRCh38)
2:234526547 (GRCh37)
Canonical SPDI:: NC_000002.12:233617900:A:T
Gene:: UGT1A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.233617901A>T, NC_000002.11:g.234526547A>T, NG_002601.2:g.33158A>T, NM_019076.4:c.194A>T, NM_019076.5:c.194A>T, NP_061949.3:p.Gln65Leu

Select item 146458686317.

rs1464586863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:233617762 (GRCh38)
2:234526408 (GRCh37)
Canonical SPDI:: NC_000002.12:233617761:A:G
Gene:: UGT1A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.233617762A>G, NC_000002.11:g.234526408A>G, NG_002601.2:g.33019A>G, NM_019076.4:c.55A>G, NM_019076.5:c.55A>G, NP_061949.3:p.Thr19Ala

Select item 146449048818.

rs1464490488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:233772373 (GRCh38)
2:234681019 (GRCh37)
Canonical SPDI:: NC_000002.12:233772372:A:C
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A1 (Varview), UGT1A3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000002.12:g.233772373A>C, NC_000002.11:g.234681019A>C, NG_002601.2:g.187630A>C, NM_019076.4:c.1407A>C, NM_019076.5:c.1407A>C, NM_001072.3:c.1413A>C, NM_001072.4:c.1413A>C, NM_019075.2:c.1407A>C, NM_019075.4:c.1407A>C, NM_019075.3:c.1407A>C, NM_021027.2:c.1407A>C, NM_021027.3:c.1407A>C, NM_007120.2:c.1419A>C, NM_007120.3:c.1419A>C, NM_000463.2:c.1416A>C, NM_000463.3:c.1416A>C, NM_019077.2:c.1407A>C, NM_019077.3:c.1407A>C, NM_019093.2:c.1419A>C, NM_019093.4:c.1419A>C, NM_019093.3:c.1419A>C, NM_019078.1:c.1419A>C, NM_019078.2:c.1419A>C, NM_205862.1:c.612A>C, NM_205862.3:c.612A>C, NM_205862.2:c.612A>C, NG_051337.1:g.1712A>C, NG_033238.1:g.17101A>C

Select item 146080126919.

rs1460801269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:233618056 (GRCh38)
2:234526702 (GRCh37)
Canonical SPDI:: NC_000002.12:233618055:T:C
Gene:: UGT1A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.233618056T>C, NC_000002.11:g.234526702T>C, NG_002601.2:g.33313T>C, NM_019076.4:c.349T>C, NM_019076.5:c.349T>C, NP_061949.3:p.Phe117Leu

Select item 145895824320.

rs1458958243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:233618254 (GRCh38)
2:234526900 (GRCh37)
Canonical SPDI:: NC_000002.12:233618253:T:G
Gene:: UGT1A8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.233618254T>G, NC_000002.11:g.234526900T>G, NG_002601.2:g.33511T>G, NM_019076.4:c.547T>G, NM_019076.5:c.547T>G, NP_061949.3:p.Cys183Gly

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