SNP Links for Nucleotide (Select 1034664628) - SNP

Links from Nucleotide

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Select item 14895176851.

rs1489517685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136421879 (GRCh38)
9:139316331 (GRCh37)
Canonical SPDI:: NC_000009.12:136421878:G:A
Gene:: PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.136421879G>A, NC_000009.11:g.139316331G>A, NG_046789.1:g.16307G>A, NM_015160.3:c.1311G>A, NM_015160.2:c.1311G>A, NM_015160.1:c.1311G>A, NM_001282946.2:c.1011G>A, NM_001282946.1:c.1011G>A, NM_001282944.2:c.918G>A, NM_001282944.1:c.918G>A, XM_005266059.4:c.1311G>A, XM_005266059.3:c.1311G>A, XM_005266059.2:c.1311G>A, XM_005266059.1:c.1311G>A, XM_011518417.4:c.765G>A, XM_011518417.3:c.765G>A, XM_011518417.2:c.765G>A, XM_011518417.1:c.765G>A, NP_055975.1:p.Met437Ile, NP_001269875.1:p.Met337Ile, NP_001269873.1:p.Met306Ile, XP_005266116.1:p.Met437Ile, XP_011516719.1:p.Met255Ile

Select item 14888473802.

rs1488847380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136422446 (GRCh38)
9:139316898 (GRCh37)
Canonical SPDI:: NC_000009.12:136422445:T:C
Gene:: PMPCA (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.136422446T>C, NC_000009.11:g.139316898T>C, NG_046789.1:g.16874T>C, XM_005266059.4:c.*186T>C, XM_005266059.3:c.*186T>C, XM_005266059.2:c.*186T>C, XM_005266059.1:c.*186T>C, XM_011518417.4:c.*186T>C, XM_011518417.3:c.*186T>C, XM_011518417.2:c.*186T>C, XM_011518417.1:c.*186T>C

Select item 14886404213.

rs1488640421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136418867 (GRCh38)
9:139313319 (GRCh37)
Canonical SPDI:: NC_000009.12:136418866:C:T
Gene:: PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000009.12:g.136418867C>T, NC_000009.11:g.139313319C>T, NG_046789.1:g.13295C>T, NM_015160.3:c.1149C>T, NM_015160.2:c.1149C>T, NM_015160.1:c.1149C>T, NM_001282946.2:c.849C>T, NM_001282946.1:c.849C>T, NM_001282944.2:c.756C>T, NM_001282944.1:c.756C>T, XM_005266059.4:c.1149C>T, XM_005266059.3:c.1149C>T, XM_005266059.2:c.1149C>T, XM_005266059.1:c.1149C>T, XM_011518417.4:c.603C>T, XM_011518417.3:c.603C>T, XM_011518417.2:c.603C>T, XM_011518417.1:c.603C>T

Select item 14875539844.

rs1487553984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:136422200 (GRCh38)
9:139316652 (GRCh37)
Canonical SPDI:: NC_000009.12:136422199:G:T
Gene:: PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000009.12:g.136422200G>T, NC_000009.11:g.139316652G>T, NG_046789.1:g.16628G>T, XM_005266059.4:c.1632G>T, XM_005266059.3:c.1632G>T, XM_005266059.2:c.1632G>T, XM_005266059.1:c.1632G>T, XM_011518417.4:c.1086G>T, XM_011518417.3:c.1086G>T, XM_011518417.2:c.1086G>T, XM_011518417.1:c.1086G>T, XP_005266116.1:p.Trp544Cys, XP_011516719.1:p.Trp362Cys

Select item 14866592055.

rs1486659205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136422451 (GRCh38)
9:139316903 (GRCh37)
Canonical SPDI:: NC_000009.12:136422450:A:G
Gene:: PMPCA (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000009.12:g.136422451A>G, NC_000009.11:g.139316903A>G, NG_046789.1:g.16879A>G, XM_005266059.4:c.*191A>G, XM_005266059.3:c.*191A>G, XM_005266059.2:c.*191A>G, XM_005266059.1:c.*191A>G, XM_011518417.4:c.*191A>G, XM_011518417.3:c.*191A>G, XM_011518417.2:c.*191A>G, XM_011518417.1:c.*191A>G

Select item 14844942186.

rs1484494218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:136412532 (GRCh38)
9:139306984 (GRCh37)
Canonical SPDI:: NC_000009.12:136412531:G:C
Gene:: ENTR1 (Varview), PMPCA (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136412532G>C, NC_000009.11:g.139306984G>C, NG_046789.1:g.6960G>C, NM_015160.3:c.317G>C, NM_015160.2:c.317G>C, NM_015160.1:c.317G>C, NM_001282946.2:c.19G>C, NM_001282946.1:c.19G>C, NM_001282944.2:c.19G>C, NM_001282944.1:c.19G>C, XM_005266059.4:c.317G>C, XM_005266059.3:c.317G>C, XM_005266059.2:c.317G>C, XM_005266059.1:c.317G>C, NP_055975.1:p.Ser106Thr, NP_001269875.1:p.Val7Leu, NP_001269873.1:p.Val7Leu, XP_005266116.1:p.Ser106Thr

Select item 14833644097.

rs1483364409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136412040 (GRCh38)
9:139306492 (GRCh37)
Canonical SPDI:: NC_000009.12:136412039:T:C
Gene:: ENTR1 (Varview), PMPCA (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000009.12:g.136412040T>C, NC_000009.11:g.139306492T>C, NG_046789.1:g.6468T>C, NM_015160.3:c.115T>C, NM_015160.2:c.115T>C, NM_015160.1:c.115T>C, NM_001282946.2:c.-184T>C, NM_001282946.1:c.-184T>C, NM_001282944.2:c.-184T>C, NM_001282944.1:c.-184T>C, XM_005266059.4:c.115T>C, XM_005266059.3:c.115T>C, XM_005266059.2:c.115T>C, XM_005266059.1:c.115T>C, NP_055975.1:p.Tyr39His, XP_005266116.1:p.Tyr39His

Select item 14821785538.

rs1482178553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136422198 (GRCh38)
9:139316650 (GRCh37)
Canonical SPDI:: NC_000009.12:136422197:T:C
Gene:: PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000009.12:g.136422198T>C, NC_000009.11:g.139316650T>C, NG_046789.1:g.16626T>C, XM_005266059.4:c.1630T>C, XM_005266059.3:c.1630T>C, XM_005266059.2:c.1630T>C, XM_005266059.1:c.1630T>C, XM_011518417.4:c.1084T>C, XM_011518417.3:c.1084T>C, XM_011518417.2:c.1084T>C, XM_011518417.1:c.1084T>C, XP_005266116.1:p.Trp544Arg, XP_011516719.1:p.Trp362Arg

Select item 14811836709.

rs1481183670 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136416388 (GRCh38)
9:139310840 (GRCh37)
Canonical SPDI:: NC_000009.12:136416387:T:C
Gene:: PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.136416388T>C, NC_000009.11:g.139310840T>C, NG_046789.1:g.10816T>C, NM_015160.3:c.630T>C, NM_015160.2:c.630T>C, NM_015160.1:c.630T>C, NM_001282946.2:c.330T>C, NM_001282946.1:c.330T>C, NM_001282944.2:c.237T>C, NM_001282944.1:c.237T>C, XM_005266059.4:c.630T>C, XM_005266059.3:c.630T>C, XM_005266059.2:c.630T>C, XM_005266059.1:c.630T>C, XM_011518417.4:c.84T>C, XM_011518417.3:c.84T>C, XM_011518417.2:c.84T>C, XM_011518417.1:c.84T>C

Select item 148027250210.

rs1480272502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:136422572 (GRCh38)
9:139317024 (GRCh37)
Canonical SPDI:: NC_000009.12:136422571:G:C
Gene:: PMPCA (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.136422572G>C, NC_000009.11:g.139317024G>C, NG_046789.1:g.17000G>C, XM_005266059.4:c.*312G>C, XM_005266059.3:c.*312G>C, XM_005266059.2:c.*312G>C, XM_005266059.1:c.*312G>C, XM_011518417.4:c.*312G>C, XM_011518417.3:c.*312G>C, XM_011518417.2:c.*312G>C, XM_011518417.1:c.*312G>C

Select item 148012145311.

rs1480121453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136422459 (GRCh38)
9:139316911 (GRCh37)
Canonical SPDI:: NC_000009.12:136422458:C:T
Gene:: PMPCA (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.136422459C>T, NC_000009.11:g.139316911C>T, NG_046789.1:g.16887C>T, XM_005266059.4:c.*199C>T, XM_005266059.3:c.*199C>T, XM_005266059.2:c.*199C>T, XM_005266059.1:c.*199C>T, XM_011518417.4:c.*199C>T, XM_011518417.3:c.*199C>T, XM_011518417.2:c.*199C>T, XM_011518417.1:c.*199C>T

Select item 147972226612.

rs1479722266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136422605 (GRCh38)
9:139317057 (GRCh37)
Canonical SPDI:: NC_000009.12:136422604:A:G
Gene:: PMPCA (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000009.12:g.136422605A>G, NC_000009.11:g.139317057A>G, NG_046789.1:g.17033A>G, XM_005266059.4:c.*345A>G, XM_005266059.3:c.*345A>G, XM_005266059.2:c.*345A>G, XM_005266059.1:c.*345A>G, XM_011518417.4:c.*345A>G, XM_011518417.3:c.*345A>G, XM_011518417.2:c.*345A>G, XM_011518417.1:c.*345A>G

Select item 147935291213.

rs1479352912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136416971 (GRCh38)
9:139311423 (GRCh37)
Canonical SPDI:: NC_000009.12:136416970:A:G
Gene:: PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000009.12:g.136416971A>G, NC_000009.11:g.139311423A>G, NG_046789.1:g.11399A>G, NM_015160.3:c.654A>G, NM_015160.2:c.654A>G, NM_015160.1:c.654A>G, NM_001282946.2:c.354A>G, NM_001282946.1:c.354A>G, NM_001282944.2:c.261A>G, NM_001282944.1:c.261A>G, XM_005266059.4:c.654A>G, XM_005266059.3:c.654A>G, XM_005266059.2:c.654A>G, XM_005266059.1:c.654A>G, XM_011518417.4:c.108A>G, XM_011518417.3:c.108A>G, XM_011518417.2:c.108A>G, XM_011518417.1:c.108A>G

Select item 147795534214.

rs1477955342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:136422085 (GRCh38)
9:139316537 (GRCh37)
Canonical SPDI:: NC_000009.12:136422084:C:G,NC_000009.12:136422084:C:T
Gene:: PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136422085C>G, NC_000009.12:g.136422085C>T, NC_000009.11:g.139316537C>G, NC_000009.11:g.139316537C>T, NG_046789.1:g.16513C>G, NG_046789.1:g.16513C>T, XM_005266059.4:c.1517C>G, XM_005266059.4:c.1517C>T, XM_005266059.3:c.1517C>G, XM_005266059.3:c.1517C>T, XM_005266059.2:c.1517C>G, XM_005266059.2:c.1517C>T, XM_005266059.1:c.1517C>G, XM_005266059.1:c.1517C>T, XM_011518417.4:c.971C>G, XM_011518417.4:c.971C>T, XM_011518417.3:c.971C>G, XM_011518417.3:c.971C>T, XM_011518417.2:c.971C>G, XM_011518417.2:c.971C>T, XM_011518417.1:c.971C>G, XM_011518417.1:c.971C>T, XP_005266116.1:p.Thr506Ser, XP_005266116.1:p.Thr506Ile, XP_011516719.1:p.Thr324Ser, XP_011516719.1:p.Thr324Ile

Select item 147736008815.

rs1477360088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:136421888 (GRCh38)
9:139316340 (GRCh37)
Canonical SPDI:: NC_000009.12:136421887:A:C
Gene:: PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136421888A>C, NC_000009.11:g.139316340A>C, NG_046789.1:g.16316A>C, NM_015160.3:c.1320A>C, NM_015160.2:c.1320A>C, NM_015160.1:c.1320A>C, NM_001282946.2:c.1020A>C, NM_001282946.1:c.1020A>C, NM_001282944.2:c.927A>C, NM_001282944.1:c.927A>C, XM_005266059.4:c.1320A>C, XM_005266059.3:c.1320A>C, XM_005266059.2:c.1320A>C, XM_005266059.1:c.1320A>C, XM_011518417.4:c.774A>C, XM_011518417.3:c.774A>C, XM_011518417.2:c.774A>C, XM_011518417.1:c.774A>C, NP_055975.1:p.Glu440Asp, NP_001269875.1:p.Glu340Asp, NP_001269873.1:p.Glu309Asp, XP_005266116.1:p.Glu440Asp, XP_011516719.1:p.Glu258Asp

Select item 147581776616.

rs1475817766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136422867 (GRCh38)
9:139317319 (GRCh37)
Canonical SPDI:: NC_000009.12:136422866:A:G
Gene:: PMPCA (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136422867A>G, NC_000009.11:g.139317319A>G, NG_046789.1:g.17295A>G, XM_005266059.4:c.*607A>G, XM_005266059.3:c.*607A>G, XM_005266059.2:c.*607A>G, XM_005266059.1:c.*607A>G, XM_011518417.4:c.*607A>G, XM_011518417.3:c.*607A>G, XM_011518417.2:c.*607A>G, XM_011518417.1:c.*607A>G

Select item 147525825817.

rs1475258258 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:136416992 (GRCh38)
9:139311444 (GRCh37)
Canonical SPDI:: NC_000009.12:136416991:CCCC:CCC
Gene:: PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136416995del, NC_000009.11:g.139311447del, NG_046789.1:g.11423del, NM_015160.3:c.678del, NM_015160.2:c.678del, NM_015160.1:c.678del, NM_001282946.2:c.378del, NM_001282946.1:c.378del, NM_001282944.2:c.285del, NM_001282944.1:c.285del, XM_005266059.4:c.678del, XM_005266059.3:c.678del, XM_005266059.2:c.678del, XM_005266059.1:c.678del, XM_011518417.4:c.132del, XM_011518417.3:c.132del, XM_011518417.2:c.132del, XM_011518417.1:c.132del, NP_055975.1:p.Thr227fs, NP_001269875.1:p.Thr127fs, NP_001269873.1:p.Thr96fs, XP_005266116.1:p.Thr227fs, XP_011516719.1:p.Thr45fs

Select item 147372463518.

rs1473724635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136422791 (GRCh38)
9:139317243 (GRCh37)
Canonical SPDI:: NC_000009.12:136422790:C:T
Gene:: PMPCA (Varview)
Functional Consequence:: 3_prime_UTR_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)
HGVS:: NC_000009.12:g.136422791C>T, NC_000009.11:g.139317243C>T, NG_046789.1:g.17219C>T, XM_005266059.4:c.*531C>T, XM_005266059.3:c.*531C>T, XM_005266059.2:c.*531C>T, XM_005266059.1:c.*531C>T, XM_011518417.4:c.*531C>T, XM_011518417.3:c.*531C>T, XM_011518417.2:c.*531C>T, XM_011518417.1:c.*531C>T

Select item 147248609819.

rs1472486098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136416318 (GRCh38)
9:139310770 (GRCh37)
Canonical SPDI:: NC_000009.12:136416317:C:T
Gene:: PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.136416318C>T, NC_000009.11:g.139310770C>T, NG_046789.1:g.10746C>T, NM_015160.3:c.560C>T, NM_015160.2:c.560C>T, NM_015160.1:c.560C>T, NM_001282946.2:c.260C>T, NM_001282946.1:c.260C>T, NM_001282944.2:c.167C>T, NM_001282944.1:c.167C>T, XM_005266059.4:c.560C>T, XM_005266059.3:c.560C>T, XM_005266059.2:c.560C>T, XM_005266059.1:c.560C>T, XM_011518417.4:c.14C>T, XM_011518417.3:c.14C>T, XM_011518417.2:c.14C>T, XM_011518417.1:c.14C>T, NP_055975.1:p.Ala187Val, NP_001269875.1:p.Ala87Val, NP_001269873.1:p.Ala56Val, XP_005266116.1:p.Ala187Val, XP_011516719.1:p.Ala5Val

Select item 147010841720.

rs1470108417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136417144 (GRCh38)
9:139311596 (GRCh37)
Canonical SPDI:: NC_000009.12:136417143:C:T
Gene:: PMPCA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136417144C>T, NC_000009.11:g.139311596C>T, NG_046789.1:g.11572C>T, NM_015160.3:c.827C>T, NM_015160.2:c.827C>T, NM_015160.1:c.827C>T, NM_001282946.2:c.527C>T, NM_001282946.1:c.527C>T, NM_001282944.2:c.434C>T, NM_001282944.1:c.434C>T, XM_005266059.4:c.827C>T, XM_005266059.3:c.827C>T, XM_005266059.2:c.827C>T, XM_005266059.1:c.827C>T, XM_011518417.4:c.281C>T, XM_011518417.3:c.281C>T, XM_011518417.2:c.281C>T, XM_011518417.1:c.281C>T, NP_055975.1:p.Pro276Leu, NP_001269875.1:p.Pro176Leu, NP_001269873.1:p.Pro145Leu, XP_005266116.1:p.Pro276Leu, XP_011516719.1:p.Pro94Leu

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