SNP Links for Gene (Select 203197) - SNP

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Select item 14914925711.

rs1491492571 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GA
Chromosome:: no mapping
Canonical SPDI:

Select item 14913208182.

rs1491320818 has merged into rs3035421 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:114631288 (GRCh38)
9:117393568 (GRCh37)
Canonical SPDI:: NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:114631282:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAAA=0.0703/352 (1000Genomes)
HGVS:: NC_000009.12:g.114631288_114631306del, NC_000009.12:g.114631294_114631306del, NC_000009.12:g.114631295_114631306del, NC_000009.12:g.114631296_114631306del, NC_000009.12:g.114631297_114631306del, NC_000009.12:g.114631298_114631306del, NC_000009.12:g.114631299_114631306del, NC_000009.12:g.114631300_114631306del, NC_000009.12:g.114631301_114631306del, NC_000009.12:g.114631303_114631306del, NC_000009.12:g.114631304_114631306del, NC_000009.12:g.114631305_114631306del, NC_000009.12:g.114631306del, NC_000009.12:g.114631306dup, NC_000009.12:g.114631305_114631306dup, NC_000009.12:g.114631304_114631306dup, NC_000009.12:g.114631303_114631306dup, NC_000009.12:g.114631302_114631306dup, NC_000009.12:g.114631301_114631306dup, NC_000009.12:g.114631300_114631306dup, NC_000009.12:g.114631299_114631306dup, NC_000009.12:g.114631298_114631306dup, NC_000009.12:g.114631293_114631306dup, NC_000009.12:g.114631292_114631306dup, NC_000009.12:g.114631291_114631306dup, NC_000009.12:g.114631290_114631306dup, NC_000009.12:g.114631289_114631306dup, NC_000009.12:g.114631288_114631306dup, NC_000009.12:g.114631306_114631307insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.117393568_117393586del, NC_000009.11:g.117393574_117393586del, NC_000009.11:g.117393575_117393586del, NC_000009.11:g.117393576_117393586del, NC_000009.11:g.117393577_117393586del, NC_000009.11:g.117393578_117393586del, NC_000009.11:g.117393579_117393586del, NC_000009.11:g.117393580_117393586del, NC_000009.11:g.117393581_117393586del, NC_000009.11:g.117393583_117393586del, NC_000009.11:g.117393584_117393586del, NC_000009.11:g.117393585_117393586del, NC_000009.11:g.117393586del, NC_000009.11:g.117393586dup, NC_000009.11:g.117393585_117393586dup, NC_000009.11:g.117393584_117393586dup, NC_000009.11:g.117393583_117393586dup, NC_000009.11:g.117393582_117393586dup, NC_000009.11:g.117393581_117393586dup, NC_000009.11:g.117393580_117393586dup, NC_000009.11:g.117393579_117393586dup, NC_000009.11:g.117393578_117393586dup, NC_000009.11:g.117393573_117393586dup, NC_000009.11:g.117393572_117393586dup, NC_000009.11:g.117393571_117393586dup, NC_000009.11:g.117393570_117393586dup, NC_000009.11:g.117393569_117393586dup, NC_000009.11:g.117393568_117393586dup, NC_000009.11:g.117393586_117393587insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912732833.

rs1491273283 has merged into rs146399782 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:114609854 (GRCh38)
9:117372134 (GRCh37)
Canonical SPDI:: NC_000009.12:114609852:AAA:A
Gene:: TMEM268 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.363598/4313 (ALFA)
AA=0.36845/675 (Korea1K)
AA=0.424375/7110 (TOMMO)
-=0.43988/439 (GoNL)
-=0.454074/1750 (ALSPAC)
-=0.466559/1730 (TWINSUK)
-=0.475/19 (GENOME_DK)
-=0.476667/286 (NorthernSweden)
-=0.478195/65705 (GnomAD)
HGVS:: NC_000009.12:g.114609854_114609855del, NC_000009.11:g.117372134_117372135del

Select item 14912621544.

rs1491262154 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:114609488 (GRCh38)
9:117371768 (GRCh37)
Canonical SPDI:: NC_000009.12:114609487:GT:
Gene:: TMEM268 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.114609488_114609489del, NC_000009.11:g.117371768_117371769del

Select item 14911805595.

rs1491180559 has merged into rs78652701 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 9:114635359 (GRCh38)
9:117397639 (GRCh37)
Canonical SPDI:: NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0.000571/6 (ALFA)
-=0.064497/323 (1000Genomes)
-=0.214941/797 (TWINSUK)
-=0.221328/853 (ALSPAC)
-=0.278567/73734 (TOPMED)
HGVS:: NC_000009.12:g.114635359_114635361del, NC_000009.12:g.114635360_114635361del, NC_000009.12:g.114635361del, NC_000009.12:g.114635361dup, NC_000009.12:g.114635360_114635361dup, NC_000009.11:g.117397639_117397641del, NC_000009.11:g.117397640_117397641del, NC_000009.11:g.117397641del, NC_000009.11:g.117397641dup, NC_000009.11:g.117397640_117397641dup

Select item 14911794696.

rs1491179469 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:114609488 (GRCh38)
9:117371769 (GRCh37)
Canonical SPDI:: NC_000009.12:114609488:T:TT
Gene:: TMEM268 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.114609489dup, NC_000009.11:g.117371769dup

Select item 14911401597.

rs1491140159 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:114635349 (GRCh38)
9:117397629 (GRCh37)
Canonical SPDI:: NC_000009.12:114635348:CA:
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000042/5 (GnomAD)
-=0.000213/3 (TOMMO)
HGVS:: NC_000009.12:g.114635349_114635350del, NC_000009.11:g.117397629_117397630del

Select item 14910652478.

rs1491065247 has merged into rs34338222 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 9:114621356 (GRCh38)
9:117383636 (GRCh37)
Canonical SPDI:: NC_000009.12:114621345:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:114621345:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:114621345:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:114621345:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:114621345:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:114621345:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:114621345:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:114621345:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:114621345:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2487/922 (TWINSUK)
-=0.26/1002 (ALSPAC)
-=0.375/15 (GENOME_DK)
A=0.4443/2225 (1000Genomes)
HGVS:: NC_000009.12:g.114621356_114621359del, NC_000009.12:g.114621357_114621359del, NC_000009.12:g.114621358_114621359del, NC_000009.12:g.114621359del, NC_000009.12:g.114621359dup, NC_000009.12:g.114621358_114621359dup, NC_000009.12:g.114621357_114621359dup, NC_000009.12:g.114621356_114621359dup, NC_000009.12:g.114621353_114621359dup, NC_000009.11:g.117383636_117383639del, NC_000009.11:g.117383637_117383639del, NC_000009.11:g.117383638_117383639del, NC_000009.11:g.117383639del, NC_000009.11:g.117383639dup, NC_000009.11:g.117383638_117383639dup, NC_000009.11:g.117383637_117383639dup, NC_000009.11:g.117383636_117383639dup, NC_000009.11:g.117383633_117383639dup

Select item 14910651829.

rs1491065182 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:114637292 (GRCh38)
9:117399573 (GRCh37)
Canonical SPDI:: NC_000009.12:114637292::C
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000009.12:g.114637292_114637293insC, NC_000009.11:g.117399572_117399573insC

Select item 149104991110.

rs1491049911 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:114605239 (GRCh38)
9:117367519 (GRCh37)
Canonical SPDI:: NC_000009.12:114605238:CA:
Gene:: TMEM268 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.114605239_114605240del, NC_000009.11:g.117367519_117367520del

Select item 149096961011.

rs1490969610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:114646552 (GRCh38)
9:117408832 (GRCh37)
Canonical SPDI:: NC_000009.12:114646551:T:C
Gene:: TMEM268 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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.114646552T>C, NC_000009.11:g.117408832T>C

Select item 149081141312.

rs1490811413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:114624795 (GRCh38)
9:117387075 (GRCh37)
Canonical SPDI:: NC_000009.12:114624794:A:C
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.114624795A>C, NC_000009.11:g.117387075A>C

Select item 149068672013.

rs1490686720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:114638196 (GRCh38)
9:117400476 (GRCh37)
Canonical SPDI:: NC_000009.12:114638195:C:A
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.114638196C>A, NC_000009.11:g.117400476C>A

Select item 149067307814.

rs1490673078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:114623144 (GRCh38)
9:117385424 (GRCh37)
Canonical SPDI:: NC_000009.12:114623143:G:A
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.114623144G>A, NC_000009.11:g.117385424G>A

Select item 149064824015.

rs1490648240 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 9:114606256 (GRCh38)
9:117368536 (GRCh37)
Canonical SPDI:: NC_000009.12:114606255:GGGGGG:GGGGG
Gene:: TMEM268 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.114606261del, NC_000009.11:g.117368541del

Select item 149063760116.

rs1490637601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:114622204 (GRCh38)
9:117384484 (GRCh37)
Canonical SPDI:: NC_000009.12:114622203:A:C
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.114622204A>C, NC_000009.11:g.117384484A>C

Select item 149060114817.

rs1490601148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:114609234 (GRCh38)
9:117371514 (GRCh37)
Canonical SPDI:: NC_000009.12:114609233:C:G
Gene:: TMEM268 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.114609234C>G, NC_000009.11:g.117371514C>G

Select item 149052344218.

rs1490523442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:114637729 (GRCh38)
9:117400009 (GRCh37)
Canonical SPDI:: NC_000009.12:114637728:A:G
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_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.114637729A>G, NC_000009.11:g.117400009A>G

Select item 149039613119.

rs1490396131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:114642306 (GRCh38)
9:117404586 (GRCh37)
Canonical SPDI:: NC_000009.12:114642305:G:T
Gene:: TMEM268 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.114642306G>T, NC_000009.11:g.117404586G>T

Select item 149036651720.

rs1490366517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:114614951 (GRCh38)
9:117377231 (GRCh37)
Canonical SPDI:: NC_000009.12:114614950:C:A
Gene:: TMEM268 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.114614951C>A, NC_000009.11:g.117377231C>A

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