SNP Links for Gene (Select 154007) - SNP

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Select item 14915076351.

rs1491507635 has merged into rs148304945 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:7597874 (GRCh38)
6:7598107 (GRCh37)
Canonical SPDI:: NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7597865:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SNRNP48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TT=0.3249/1627 (1000Genomes)
HGVS:: NC_000006.12:g.7597874_7597883del, NC_000006.12:g.7597877_7597883del, NC_000006.12:g.7597878_7597883del, NC_000006.12:g.7597879_7597883del, NC_000006.12:g.7597880_7597883del, NC_000006.12:g.7597881_7597883del, NC_000006.12:g.7597882_7597883del, NC_000006.12:g.7597883del, NC_000006.12:g.7597883dup, NC_000006.12:g.7597882_7597883dup, NC_000006.12:g.7597880_7597883dup, NC_000006.12:g.7597878_7597883dup, NC_000006.12:g.7597877_7597883dup, NC_000006.12:g.7597876_7597883dup, NC_000006.11:g.7598107_7598116del, NC_000006.11:g.7598110_7598116del, NC_000006.11:g.7598111_7598116del, NC_000006.11:g.7598112_7598116del, NC_000006.11:g.7598113_7598116del, NC_000006.11:g.7598114_7598116del, NC_000006.11:g.7598115_7598116del, NC_000006.11:g.7598116del, NC_000006.11:g.7598116dup, NC_000006.11:g.7598115_7598116dup, NC_000006.11:g.7598113_7598116dup, NC_000006.11:g.7598111_7598116dup, NC_000006.11:g.7598110_7598116dup, NC_000006.11:g.7598109_7598116dup

Select item 14914786062.

rs1491478606 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:7601130 (GRCh38)
6:7601363 (GRCh37)
Canonical SPDI:: NC_000006.12:7601129:AT:
Gene:: SNRNP48 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.7601130_7601131del, NC_000006.11:g.7601363_7601364del

Select item 14914629113.

rs1491462911 has merged into rs57730968 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:7588623 (GRCh38)
6:7588856 (GRCh37)
Canonical SPDI:: NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SNRNP48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3229/1617 (1000Genomes)
HGVS:: NC_000006.12:g.7588623_7588626del, NC_000006.12:g.7588624_7588626del, NC_000006.12:g.7588625_7588626del, NC_000006.12:g.7588626del, NC_000006.12:g.7588626dup, NC_000006.12:g.7588625_7588626dup, NC_000006.12:g.7588624_7588626dup, NC_000006.12:g.7588622_7588626dup, NC_000006.12:g.7588618_7588626dup, NC_000006.11:g.7588856_7588859del, NC_000006.11:g.7588857_7588859del, NC_000006.11:g.7588858_7588859del, NC_000006.11:g.7588859del, NC_000006.11:g.7588859dup, NC_000006.11:g.7588858_7588859dup, NC_000006.11:g.7588857_7588859dup, NC_000006.11:g.7588855_7588859dup, NC_000006.11:g.7588851_7588859dup, NG_008803.1:g.51987_51990del, NG_008803.1:g.51988_51990del, NG_008803.1:g.51989_51990del, NG_008803.1:g.51990del, NG_008803.1:g.51990dup, NG_008803.1:g.51989_51990dup, NG_008803.1:g.51988_51990dup, NG_008803.1:g.51986_51990dup, NG_008803.1:g.51982_51990dup

Select item 14914608704.

rs1491460870 has merged into rs11306344 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 6:7601142 (GRCh38)
6:7601375 (GRCh37)
Canonical SPDI:: NC_000006.12:7601130:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:7601130:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:7601130:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:7601130:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:7601130:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: SNRNP48 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.3/12 (GENOME_DK)
T=0.3111/1199 (ALSPAC)
T=0.329/1220 (TWINSUK)
T=0.3435/1720 (1000Genomes)
T=0.4565/273 (NorthernSweden)
HGVS:: NC_000006.12:g.7601142_7601144del, NC_000006.12:g.7601143_7601144del, NC_000006.12:g.7601144del, NC_000006.12:g.7601144dup, NC_000006.12:g.7601143_7601144dup, NC_000006.11:g.7601375_7601377del, NC_000006.11:g.7601376_7601377del, NC_000006.11:g.7601377del, NC_000006.11:g.7601377dup, NC_000006.11:g.7601376_7601377dup

Select item 14911510185.

rs1491151018 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:7597865 (GRCh38)
6:7598098 (GRCh37)
Canonical SPDI:: NC_000006.12:7597864:CT:
Gene:: SNRNP48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.7597865_7597866del, NC_000006.11:g.7598098_7598099del

Select item 14910792596.

rs1491079259 has merged into rs1232660908 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 6:7598515 (GRCh38)
6:7598748 (GRCh37)
Canonical SPDI:: NC_000006.12:7598511:TTTTTTTTT:TTT,NC_000006.12:7598511:TTTTTTTTT:TTTTTTTT,NC_000006.12:7598511:TTTTTTTTT:TTTTTTTTTT
Gene:: SNRNP48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.7598515_7598520del, NC_000006.12:g.7598520del, NC_000006.12:g.7598520dup, NC_000006.11:g.7598748_7598753del, NC_000006.11:g.7598753del, NC_000006.11:g.7598753dup

Select item 14910143637.

rs1491014363 has merged into rs57730968 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:7588623 (GRCh38)
6:7588856 (GRCh37)
Canonical SPDI:: NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7588609:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SNRNP48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3229/1617 (1000Genomes)
HGVS:: NC_000006.12:g.7588623_7588626del, NC_000006.12:g.7588624_7588626del, NC_000006.12:g.7588625_7588626del, NC_000006.12:g.7588626del, NC_000006.12:g.7588626dup, NC_000006.12:g.7588625_7588626dup, NC_000006.12:g.7588624_7588626dup, NC_000006.12:g.7588622_7588626dup, NC_000006.12:g.7588618_7588626dup, NC_000006.11:g.7588856_7588859del, NC_000006.11:g.7588857_7588859del, NC_000006.11:g.7588858_7588859del, NC_000006.11:g.7588859del, NC_000006.11:g.7588859dup, NC_000006.11:g.7588858_7588859dup, NC_000006.11:g.7588857_7588859dup, NC_000006.11:g.7588855_7588859dup, NC_000006.11:g.7588851_7588859dup, NG_008803.1:g.51987_51990del, NG_008803.1:g.51988_51990del, NG_008803.1:g.51989_51990del, NG_008803.1:g.51990del, NG_008803.1:g.51990dup, NG_008803.1:g.51989_51990dup, NG_008803.1:g.51988_51990dup, NG_008803.1:g.51986_51990dup, NG_008803.1:g.51982_51990dup

Select item 14906993808.

rs1490699380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:7610890 (GRCh38)
6:7611123 (GRCh37)
Canonical SPDI:: NC_000006.12:7610889:C:G,NC_000006.12:7610889:C:T
Gene:: SNRNP48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000018/2 (GnomAD)
HGVS:: NC_000006.12:g.7610890C>G, NC_000006.12:g.7610890C>T, NC_000006.11:g.7611123C>G, NC_000006.11:g.7611123C>T, NM_152551.4:c.*2017C>G, NM_152551.4:c.*2017C>T, NM_152551.3:c.*2017C>G, NM_152551.3:c.*2017C>T, XM_011514312.4:c.*2017C>G, XM_011514312.4:c.*2017C>T, XM_011514312.3:c.*2017C>G, XM_011514312.3:c.*2017C>T, XM_011514312.2:c.*2017C>G, XM_011514312.2:c.*2017C>T, XM_011514312.1:c.*2017C>G, XM_011514312.1:c.*2017C>T

Select item 14906773849.

rs1490677384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:7605616 (GRCh38)
6:7605849 (GRCh37)
Canonical SPDI:: NC_000006.12:7605615:G:C,NC_000006.12:7605615:G:T
Gene:: SNRNP48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000162/3 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000006.12:g.7605616G>C, NC_000006.12:g.7605616G>T, NC_000006.11:g.7605849G>C, NC_000006.11:g.7605849G>T

Select item 149053720110.

rs1490537201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7611424 (GRCh38)
6:7611657 (GRCh37)
Canonical SPDI:: NC_000006.12:7611423:G:A
Gene:: SNRNP48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.7611424G>A, NC_000006.11:g.7611657G>A, NM_152551.4:c.*2551G>A, NM_152551.3:c.*2551G>A, XM_011514312.4:c.*2551G>A, XM_011514312.3:c.*2551G>A, XM_011514312.2:c.*2551G>A, XM_011514312.1:c.*2551G>A

Select item 149046168411.

rs1490461684 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:7595230 (GRCh38)
6:7595463 (GRCh37)
Canonical SPDI:: NC_000006.12:7595229:A:G
Gene:: SNRNP48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.7595230A>G, NC_000006.11:g.7595463A>G

Select item 149020803912.

rs1490208039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:7610447 (GRCh38)
6:7610680 (GRCh37)
Canonical SPDI:: NC_000006.12:7610446:G:A
Gene:: SNRNP48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.7610447G>A, NC_000006.11:g.7610680G>A, NM_152551.4:c.*1574G>A, NM_152551.3:c.*1574G>A, XM_011514312.4:c.*1574G>A, XM_011514312.3:c.*1574G>A, XM_011514312.2:c.*1574G>A, XM_011514312.1:c.*1574G>A

Select item 149017860013.

rs1490178600 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:7609450 (GRCh38)
6:7609683 (GRCh37)
Canonical SPDI:: NC_000006.12:7609448:ATA:A
Gene:: SNRNP48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.7609450_7609451del, NC_000006.11:g.7609683_7609684del, NM_152551.4:c.*577_*578del, NM_152551.3:c.*577_*578del, XM_011514312.4:c.*577_*578del, XM_011514312.3:c.*577_*578del, XM_011514312.2:c.*577_*578del, XM_011514312.1:c.*577_*578del

Select item 149007854714.

rs1490078547 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:7593006 (GRCh38)
6:7593239 (GRCh37)
Canonical SPDI:: NC_000006.12:7593005:T:A
Gene:: SNRNP48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.7593006T>A, NC_000006.11:g.7593239T>A

Select item 148995678415.

rs1489956784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:7590204 (GRCh38)
6:7590437 (GRCh37)
Canonical SPDI:: NC_000006.12:7590203:C:T
Gene:: SNRNP48 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.7590204C>T, NC_000006.11:g.7590437C>T, NM_152551.4:c.-54C>T, NM_152551.3:c.-54C>T, XM_011514312.4:c.-54C>T, XM_011514312.3:c.-54C>T, XM_011514312.2:c.-54C>T, XM_011514312.1:c.-54C>T, XM_047418238.1:c.-54C>T

Select item 148973137716.

rs1489731377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:7602562 (GRCh38)
6:7602795 (GRCh37)
Canonical SPDI:: NC_000006.12:7602561:A:G,NC_000006.12:7602561:A:T
Gene:: SNRNP48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000006.12:g.7602562A>G, NC_000006.12:g.7602562A>T, NC_000006.11:g.7602795A>G, NC_000006.11:g.7602795A>T

Select item 148964463017.

rs1489644630 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:7607786 (GRCh38)
6:7608019 (GRCh37)
Canonical SPDI:: NC_000006.12:7607785:T:C
Gene:: SNRNP48 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7607786T>C, NC_000006.11:g.7608019T>C

Select item 148963534518.

rs1489635345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:7590069 (GRCh38)
6:7590302 (GRCh37)
Canonical SPDI:: NC_000006.12:7590068:A:C,NC_000006.12:7590068:A:T
Gene:: SNRNP48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.7590069A>C, NC_000006.12:g.7590069A>T, NC_000006.11:g.7590302A>C, NC_000006.11:g.7590302A>T

Select item 148956381819.

rs1489563818 has merged into rs1432913166 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 6:7600527 (GRCh38)
6:7600760 (GRCh37)
Canonical SPDI:: NC_000006.12:7600526:TTTTTTT:TTTTTT,NC_000006.12:7600526:TTTTTTT:TTTTTTTT
Gene:: SNRNP48 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.00124/21 (TOMMO)
HGVS:: NC_000006.12:g.7600533del, NC_000006.12:g.7600533dup, NC_000006.11:g.7600766del, NC_000006.11:g.7600766dup

Select item 148955397920.

rs1489553979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:7598069 (GRCh38)
6:7598302 (GRCh37)
Canonical SPDI:: NC_000006.12:7598068:G:A,NC_000006.12:7598068:G:T
Gene:: SNRNP48 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.7598069G>A, NC_000006.12:g.7598069G>T, NC_000006.11:g.7598302G>A, NC_000006.11:g.7598302G>T

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