SNP Links for Gene (Select 3881) - SNP

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Select item 14914386641.

rs1491438664 has merged into rs770889396 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:41398916 (GRCh38)
17:39555168 (GRCh37)
Canonical SPDI:: NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:41398911:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KRT31 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.41398916_41398926del, NC_000017.11:g.41398918_41398926del, NC_000017.11:g.41398920_41398926del, NC_000017.11:g.41398921_41398926del, NC_000017.11:g.41398922_41398926del, NC_000017.11:g.41398923_41398926del, NC_000017.11:g.41398924_41398926del, NC_000017.11:g.41398925_41398926del, NC_000017.11:g.41398926del, NC_000017.11:g.41398926dup, NC_000017.11:g.41398925_41398926dup, NC_000017.11:g.41398924_41398926dup, NC_000017.11:g.41398923_41398926dup, NC_000017.11:g.41398922_41398926dup, NC_000017.11:g.41398921_41398926dup, NC_000017.11:g.41398920_41398926dup, NC_000017.11:g.41398919_41398926dup, NC_000017.11:g.41398918_41398926dup, NC_000017.10:g.39555168_39555178del, NC_000017.10:g.39555170_39555178del, NC_000017.10:g.39555172_39555178del, NC_000017.10:g.39555173_39555178del, NC_000017.10:g.39555174_39555178del, NC_000017.10:g.39555175_39555178del, NC_000017.10:g.39555176_39555178del, NC_000017.10:g.39555177_39555178del, NC_000017.10:g.39555178del, NC_000017.10:g.39555178dup, NC_000017.10:g.39555177_39555178dup, NC_000017.10:g.39555176_39555178dup, NC_000017.10:g.39555175_39555178dup, NC_000017.10:g.39555174_39555178dup, NC_000017.10:g.39555173_39555178dup, NC_000017.10:g.39555172_39555178dup, NC_000017.10:g.39555171_39555178dup, NC_000017.10:g.39555170_39555178dup, NG_012288.1:g.3671_3681del, NG_012288.1:g.3673_3681del, NG_012288.1:g.3675_3681del, NG_012288.1:g.3676_3681del, NG_012288.1:g.3677_3681del, NG_012288.1:g.3678_3681del, NG_012288.1:g.3679_3681del, NG_012288.1:g.3680_3681del, NG_012288.1:g.3681del, NG_012288.1:g.3681dup, NG_012288.1:g.3680_3681dup, NG_012288.1:g.3679_3681dup, NG_012288.1:g.3678_3681dup, NG_012288.1:g.3677_3681dup, NG_012288.1:g.3676_3681dup, NG_012288.1:g.3675_3681dup, NG_012288.1:g.3674_3681dup, NG_012288.1:g.3673_3681dup, NW_025791801.1:g.338820_338830del, NW_025791801.1:g.338822_338830del, NW_025791801.1:g.338824_338830del, NW_025791801.1:g.338825_338830del, NW_025791801.1:g.338826_338830del, NW_025791801.1:g.338827_338830del, NW_025791801.1:g.338828_338830del, NW_025791801.1:g.338829_338830del, NW_025791801.1:g.338830del, NW_025791801.1:g.338830dup, NW_025791801.1:g.338829_338830dup, NW_025791801.1:g.338828_338830dup, NW_025791801.1:g.338827_338830dup, NW_025791801.1:g.338826_338830dup, NW_025791801.1:g.338825_338830dup, NW_025791801.1:g.338824_338830dup, NW_025791801.1:g.338823_338830dup, NW_025791801.1:g.338822_338830dup

Select item 14910510122.

rs1491051012 has merged into rs10711172 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:41396114 (GRCh38)
17:39552366 (GRCh37)
Canonical SPDI:: NC_000017.11:41396105:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:41396105:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:41396105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:41396105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:41396105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:41396105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:41396105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:41396105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: KRT31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.26038/1304 (1000Genomes)
HGVS:: NC_000017.11:g.41396114_41396121del, NC_000017.11:g.41396115_41396121del, NC_000017.11:g.41396118_41396121del, NC_000017.11:g.41396119_41396121del, NC_000017.11:g.41396120_41396121del, NC_000017.11:g.41396121del, NC_000017.11:g.41396121dup, NC_000017.11:g.41396120_41396121dup, NC_000017.10:g.39552366_39552373del, NC_000017.10:g.39552367_39552373del, NC_000017.10:g.39552370_39552373del, NC_000017.10:g.39552371_39552373del, NC_000017.10:g.39552372_39552373del, NC_000017.10:g.39552373del, NC_000017.10:g.39552373dup, NC_000017.10:g.39552372_39552373dup, NG_012288.1:g.6480_6487del, NG_012288.1:g.6481_6487del, NG_012288.1:g.6484_6487del, NG_012288.1:g.6485_6487del, NG_012288.1:g.6486_6487del, NG_012288.1:g.6487del, NG_012288.1:g.6487dup, NG_012288.1:g.6486_6487dup, NW_003315953.2:g.36848_36855del, NW_003315953.2:g.36849_36855del, NW_003315953.2:g.36852_36855del, NW_003315953.2:g.36853_36855del, NW_003315953.2:g.36854_36855del, NW_003315953.2:g.36855del, NW_003315953.2:g.36855dup, NW_003315953.2:g.36854_36855dup, NW_003315953.1:g.36848_36855del, NW_003315953.1:g.36849_36855del, NW_003315953.1:g.36852_36855del, NW_003315953.1:g.36853_36855del, NW_003315953.1:g.36854_36855del, NW_003315953.1:g.36855del, NW_003315953.1:g.36855dup, NW_003315953.1:g.36854_36855dup, NW_025791801.1:g.336018_336025del, NW_025791801.1:g.336019_336025del, NW_025791801.1:g.336022_336025del, NW_025791801.1:g.336023_336025del, NW_025791801.1:g.336024_336025del, NW_025791801.1:g.336025del, NW_025791801.1:g.336025dup, NW_025791801.1:g.336024_336025dup

Select item 14903502193.

rs1490350219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41397245 (GRCh38)
17:39553497 (GRCh37)
Canonical SPDI:: NC_000017.11:41397244:G:C
Gene:: KRT31 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41397245G>C, NC_000017.10:g.39553497G>C, NG_012288.1:g.5348C>G, NM_002277.3:c.295C>G, NM_002277.2:c.295C>G, NW_003315953.2:g.35716C>G, NW_003315953.1:g.35716C>G, NW_025791801.1:g.337149G>C, NP_002268.2:p.Leu99Val

Select item 14901164694.

rs1490116469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:41399567 (GRCh38)
17:39555819 (GRCh37)
Canonical SPDI:: NC_000017.11:41399566:A:T
Gene:: KRT31 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41399567A>T, NC_000017.10:g.39555819A>T, NG_012288.1:g.3026T>A, NW_003315953.2:g.33369T>A, NW_003315953.1:g.33369T>A, NW_025791801.1:g.339471A>T

Select item 14898619185.

rs1489861918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:41396587 (GRCh38)
17:39552839 (GRCh37)
Canonical SPDI:: NC_000017.11:41396586:A:G,NC_000017.11:41396586:A:T
Gene:: KRT31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.41396587A>G, NC_000017.11:g.41396587A>T, NC_000017.10:g.39552839A>G, NC_000017.10:g.39552839A>T, NG_012288.1:g.6006T>C, NG_012288.1:g.6006T>A, NW_003315953.2:g.36374T>C, NW_003315953.2:g.36374T>A, NW_003315953.1:g.36374T>C, NW_003315953.1:g.36374T>A, NW_025791801.1:g.336491A>G, NW_025791801.1:g.336491A>T

Select item 14873002806.

rs1487300280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41397429 (GRCh38)
17:39553681 (GRCh37)
Canonical SPDI:: NC_000017.11:41397428:G:A
Gene:: KRT31 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41397429G>A, NC_000017.10:g.39553681G>A, NG_012288.1:g.5164C>T, NM_002277.3:c.111C>T, NM_002277.2:c.111C>T, NW_003315953.2:g.35532C>T, NW_003315953.1:g.35532C>T, NW_025791801.1:g.337333G>A

Select item 14870917197.

rs1487091719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41394257 (GRCh38)
17:39550509 (GRCh37)
Canonical SPDI:: NC_000017.11:41394256:G:A
Gene:: KRT31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41394257G>A, NC_000017.10:g.39550509G>A, NG_012288.1:g.8336C>T, NW_003315953.2:g.38704C>T, NW_003315953.1:g.38704C>T, NW_025791801.1:g.334161G>A

Select item 14870282528.

rs1487028252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41398697 (GRCh38)
17:39554949 (GRCh37)
Canonical SPDI:: NC_000017.11:41398696:A:G
Gene:: KRT31 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000895/4 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000893/4 (Estonian)
HGVS:: NC_000017.11:g.41398697A>G, NC_000017.10:g.39554949A>G, NG_012288.1:g.3896T>C, NW_003315953.2:g.34264T>C, NW_003315953.1:g.34264T>C, NW_025791801.1:g.338601A>G

Select item 14869838289.

rs1486983828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41395154 (GRCh38)
17:39551406 (GRCh37)
Canonical SPDI:: NC_000017.11:41395153:G:C
Gene:: KRT31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41395154G>C, NC_000017.10:g.39551406G>C, NG_012288.1:g.7439C>G, NW_003315953.2:g.37807C>G, NW_003315953.1:g.37807C>G, NW_025791801.1:g.335058G>C

Select item 148646508710.

rs1486465087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41395242 (GRCh38)
17:39551494 (GRCh37)
Canonical SPDI:: NC_000017.11:41395241:C:T
Gene:: KRT31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41395242C>T, NC_000017.10:g.39551494C>T, NG_012288.1:g.7351G>A, NW_003315953.2:g.37719G>A, NW_003315953.1:g.37719G>A, NW_025791801.1:g.335146C>T

Select item 148621371911.

rs1486213719 [Homo sapiens]

Variant type:: DEL
Alleles:: ATATATA>- [Show Flanks]
Chromosome:: 17:41398905 (GRCh38)
17:39555157 (GRCh37)
Canonical SPDI:: NC_000017.11:41398904:ATATATA:
Gene:: KRT31 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.41398905_41398911del, NC_000017.10:g.39555157_39555163del, NG_012288.1:g.3682_3688del, NW_003315953.2:g.34050_34056del, NW_003315953.1:g.34050_34056del, NW_025791801.1:g.338809_338815del

Select item 148556633912.

rs1485566339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:41395723 (GRCh38)
17:39551975 (GRCh37)
Canonical SPDI:: NC_000017.11:41395722:A:C
Gene:: KRT31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.41395723A>C, NC_000017.10:g.39551975A>C, NG_012288.1:g.6870T>G, NW_003315953.2:g.37238T>G, NW_003315953.1:g.37238T>G, NW_025791801.1:g.335627A>C

Select item 148532948113.

rs1485329481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41397150 (GRCh38)
17:39553402 (GRCh37)
Canonical SPDI:: NC_000017.11:41397149:C:G
Gene:: KRT31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41397150C>G, NC_000017.10:g.39553402C>G, NG_012288.1:g.5443G>C, NW_003315953.2:g.35811G>C, NW_003315953.1:g.35811G>C, NW_025791801.1:g.337054C>G

Select item 148502767114.

rs1485027671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41395892 (GRCh38)
17:39552144 (GRCh37)
Canonical SPDI:: NC_000017.11:41395891:C:T
Gene:: KRT31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.41395892C>T, NC_000017.10:g.39552144C>T, NG_012288.1:g.6701G>A, NW_003315953.2:g.37069G>A, NW_003315953.1:g.37069G>A, NW_025791801.1:g.335796C>T

Select item 148425703915.

rs1484257039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41399350 (GRCh38)
17:39555602 (GRCh37)
Canonical SPDI:: NC_000017.11:41399349:T:C
Gene:: KRT31 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000017.11:g.41399350T>C, NC_000017.10:g.39555602T>C, NG_012288.1:g.3243A>G, NW_003315953.2:g.33586A>G, NW_003315953.1:g.33586A>G, NW_025791801.1:g.339254T>C

Select item 148301273216.

rs1483012732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41397854 (GRCh38)
17:39554106 (GRCh37)
Canonical SPDI:: NC_000017.11:41397853:G:A
Gene:: KRT31 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.41397854G>A, NC_000017.10:g.39554106G>A, NG_012288.1:g.4739C>T, NW_003315953.2:g.35107C>T, NW_003315953.1:g.35107C>T, NW_025791801.1:g.337758G>A

Select item 148147227717.

rs1481472277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41398213 (GRCh38)
17:39554465 (GRCh37)
Canonical SPDI:: NC_000017.11:41398212:G:A
Gene:: KRT31 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41398213G>A, NC_000017.10:g.39554465G>A, NG_012288.1:g.4380C>T, NW_003315953.2:g.34748C>T, NW_003315953.1:g.34748C>T, NW_025791801.1:g.338117G>A

Select item 148110564118.

rs1481105641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41398729 (GRCh38)
17:39554981 (GRCh37)
Canonical SPDI:: NC_000017.11:41398728:A:G
Gene:: KRT31 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.41398729A>G, NC_000017.10:g.39554981A>G, NG_012288.1:g.3864T>C, NW_003315953.2:g.34232T>C, NW_003315953.1:g.34232T>C, NW_025791801.1:g.338633A>G

Select item 148108184119.

rs1481081841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41397162 (GRCh38)
17:39553414 (GRCh37)
Canonical SPDI:: NC_000017.11:41397161:T:C
Gene:: KRT31 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41397162T>C, NC_000017.10:g.39553414T>C, NG_012288.1:g.5431A>G, NW_003315953.2:g.35799A>G, NW_003315953.1:g.35799A>G, NW_025791801.1:g.337066T>C

Select item 147992994720.

rs1479929947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41393546 (GRCh38)
17:39549798 (GRCh37)
Canonical SPDI:: NC_000017.11:41393545:T:C
Gene:: KRT31 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000017.11:g.41393546T>C, NC_000017.10:g.39549798T>C, NG_012288.1:g.9047A>G, NW_003315953.2:g.39415A>G, NW_003315953.1:g.39415A>G, NW_025791801.1:g.333450T>C

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