SNP Links for Protein (Select 62632771) - SNP

Links from Protein

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Select item 14882613981.

rs1488261398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:85727 (GRCh38)
16:135726 (GRCh37)
Canonical SPDI:: NC_000016.10:85726:C:T
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
HGVS:: NC_000016.10:g.85727C>T, NC_000016.9:g.135726C>T, NG_029669.2:g.57946G>A, NG_029669.1:g.57973G>A, NM_001039476.3:c.*978G>A, NM_001077350.3:c.*978G>A, NM_001243249.2:c.*978G>A, NM_001243248.2:c.*978G>A, NM_001243247.2:c.*978G>A, NM_002434.4:c.847C>T, NM_002434.3:c.847C>T, NM_001015054.3:c.796C>T, NM_001015054.2:c.796C>T, NM_001015052.3:c.832C>T, NM_001015052.2:c.832C>T, NP_002425.2:p.Pro283Ser, NP_001015054.1:p.Pro266Ser, NP_001015052.1:p.Pro278Ser

Select item 14872555422.

rs1487255542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:85619 (GRCh38)
16:135618 (GRCh37)
Canonical SPDI:: NC_000016.10:85618:G:C
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.85619G>C, NC_000016.9:g.135618G>C, NG_029669.2:g.58054C>G, NG_029669.1:g.58081C>G, NM_001039476.3:c.*1086C>G, NM_001077350.3:c.*1086C>G, NM_001243249.2:c.*1086C>G, NM_001243248.2:c.*1086C>G, NM_001243247.2:c.*1086C>G, NM_002434.4:c.739G>C, NM_002434.3:c.739G>C, NM_001015054.3:c.688G>C, NM_001015054.2:c.688G>C, NM_001015052.3:c.724G>C, NM_001015052.2:c.724G>C, NP_002425.2:p.Gly247Arg, NP_001015054.1:p.Gly230Arg, NP_001015052.1:p.Gly242Arg

Select item 14871789843.

rs1487178984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:83198 (GRCh38)
16:133197 (GRCh37)
Canonical SPDI:: NC_000016.10:83197:G:A
Gene:: MPG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.83198G>A, NC_000016.9:g.133197G>A, NM_002434.4:c.462G>A, NM_002434.3:c.462G>A, NM_001015054.3:c.411G>A, NM_001015054.2:c.411G>A, NM_001015052.3:c.447G>A, NM_001015052.2:c.447G>A

Select item 14868509294.

rs1486850929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:79548 (GRCh38)
16:129547 (GRCh37)
Canonical SPDI:: NC_000016.10:79547:C:T
Gene:: MPG (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000016.10:g.79548C>T, NC_000016.9:g.129547C>T, NM_002434.4:c.163C>T, NM_002434.3:c.163C>T, NM_001015054.3:c.112C>T, NM_001015054.2:c.112C>T, NM_001015052.3:c.148C>T, NM_001015052.2:c.148C>T, NP_002425.2:p.Pro55Ser, NP_001015054.1:p.Pro38Ser, NP_001015052.1:p.Pro50Ser

Select item 14867819225.

rs1486781922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:85535 (GRCh38)
16:135534 (GRCh37)
Canonical SPDI:: NC_000016.10:85534:T:C
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
C=0.000684/2 (KOREAN)
HGVS:: NC_000016.10:g.85535T>C, NC_000016.9:g.135534T>C, NG_029669.2:g.58138A>G, NG_029669.1:g.58165A>G, NM_001039476.3:c.*1170A>G, NM_001077350.3:c.*1170A>G, NM_001243249.2:c.*1170A>G, NM_001243248.2:c.*1170A>G, NM_001243247.2:c.*1170A>G, NM_002434.4:c.655T>C, NM_002434.3:c.655T>C, NM_001015054.3:c.604T>C, NM_001015054.2:c.604T>C, NM_001015052.3:c.640T>C, NM_001015052.2:c.640T>C, NP_002425.2:p.Ser219Pro, NP_001015054.1:p.Ser202Pro, NP_001015052.1:p.Ser214Pro

Select item 14865266216.

rs1486526621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:85511 (GRCh38)
16:135510 (GRCh37)
Canonical SPDI:: NC_000016.10:85510:G:C
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.85511G>C, NC_000016.9:g.135510G>C, NG_029669.2:g.58162C>G, NG_029669.1:g.58189C>G, NM_001039476.3:c.*1194C>G, NM_001077350.3:c.*1194C>G, NM_001243249.2:c.*1194C>G, NM_001243248.2:c.*1194C>G, NM_001243247.2:c.*1194C>G, NM_002434.4:c.631G>C, NM_002434.3:c.631G>C, NM_001015054.3:c.580G>C, NM_001015054.2:c.580G>C, NM_001015052.3:c.616G>C, NM_001015052.2:c.616G>C, NP_002425.2:p.Asp211His, NP_001015054.1:p.Asp194His, NP_001015052.1:p.Asp206His

Select item 14859868377.

rs1485986837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:83085 (GRCh38)
16:133084 (GRCh37)
Canonical SPDI:: NC_000016.10:83084:C:T
Gene:: MPG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000016.10:g.83085C>T, NC_000016.9:g.133084C>T, NM_002434.4:c.349C>T, NM_002434.3:c.349C>T, NM_001015054.3:c.298C>T, NM_001015054.2:c.298C>T, NM_001015052.3:c.334C>T, NM_001015052.2:c.334C>T, NP_002425.2:p.Leu117Phe, NP_001015054.1:p.Leu100Phe, NP_001015052.1:p.Leu112Phe

Select item 14844036668.

rs1484403666 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:79535 (GRCh38)
16:129534 (GRCh37)
Canonical SPDI:: NC_000016.10:79534:TG:
Gene:: MPG (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000016.10:g.79535_79536del, NC_000016.9:g.129534_129535del, NM_002434.4:c.150_151del, NM_002434.3:c.150_151del, NM_001015054.3:c.99_100del, NM_001015054.2:c.99_100del, NM_001015052.3:c.135_136del, NM_001015052.2:c.135_136del, NP_002425.2:p.Ala51fs, NP_001015054.1:p.Ala34fs, NP_001015052.1:p.Ala46fs

Select item 14833490639.

rs1483349063 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 16:85699 (GRCh38)
16:135698 (GRCh37)
Canonical SPDI:: NC_000016.10:85698:A:C,NC_000016.10:85698:A:T
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
C=0.002729/5 (Korea1K)
HGVS:: NC_000016.10:g.85699A>C, NC_000016.10:g.85699A>T, NC_000016.9:g.135698A>C, NC_000016.9:g.135698A>T, NG_029669.2:g.57974T>G, NG_029669.2:g.57974T>A, NG_029669.1:g.58001T>G, NG_029669.1:g.58001T>A, NM_001039476.3:c.*1006T>G, NM_001039476.3:c.*1006T>A, NM_001077350.3:c.*1006T>G, NM_001077350.3:c.*1006T>A, NM_001243249.2:c.*1006T>G, NM_001243249.2:c.*1006T>A, NM_001243248.2:c.*1006T>G, NM_001243248.2:c.*1006T>A, NM_001243247.2:c.*1006T>G, NM_001243247.2:c.*1006T>A, NM_002434.4:c.819A>C, NM_002434.4:c.819A>T, NM_002434.3:c.819A>C, NM_002434.3:c.819A>T, NM_001015054.3:c.768A>C, NM_001015054.3:c.768A>T, NM_001015054.2:c.768A>C, NM_001015054.2:c.768A>T, NM_001015052.3:c.804A>C, NM_001015052.3:c.804A>T, NM_001015052.2:c.804A>C, NM_001015052.2:c.804A>T, NP_002425.2:p.Lys273Asn, NP_002425.2:p.Lys273Asn, NP_001015054.1:p.Lys256Asn, NP_001015054.1:p.Lys256Asn, NP_001015052.1:p.Lys268Asn, NP_001015052.1:p.Lys268Asn

Select item 148112793810.

rs1481127938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:83250 (GRCh38)
16:133249 (GRCh37)
Canonical SPDI:: NC_000016.10:83249:A:T
Gene:: MPG (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=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.83250A>T, NC_000016.9:g.133249A>T, NM_002434.4:c.514A>T, NM_002434.3:c.514A>T, NM_001015054.3:c.463A>T, NM_001015054.2:c.463A>T, NM_001015052.3:c.499A>T, NM_001015052.2:c.499A>T, NP_002425.2:p.Ser172Cys, NP_001015054.1:p.Ser155Cys, NP_001015052.1:p.Ser167Cys

Select item 147617358711.

rs1476173587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:85420 (GRCh38)
16:135419 (GRCh37)
Canonical SPDI:: NC_000016.10:85419:G:A
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.85420G>A, NC_000016.9:g.135419G>A, NG_029669.2:g.58253C>T, NG_029669.1:g.58280C>T, NM_001039476.3:c.*1285C>T, NM_001077350.3:c.*1285C>T, NM_001243249.2:c.*1285C>T, NM_001243248.2:c.*1285C>T, NM_001243247.2:c.*1285C>T, NM_002434.4:c.540G>A, NM_002434.3:c.540G>A, NM_001015054.3:c.489G>A, NM_001015054.2:c.489G>A, NM_001015052.3:c.525G>A, NM_001015052.2:c.525G>A

Select item 147279231512.

rs1472792315 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:85571 (GRCh38)
16:135570 (GRCh37)
Canonical SPDI:: NC_000016.10:85570:T:A
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.85571T>A, NC_000016.9:g.135570T>A, NG_029669.2:g.58102A>T, NG_029669.1:g.58129A>T, NM_001039476.3:c.*1134A>T, NM_001077350.3:c.*1134A>T, NM_001243249.2:c.*1134A>T, NM_001243248.2:c.*1134A>T, NM_001243247.2:c.*1134A>T, NM_002434.4:c.691T>A, NM_002434.3:c.691T>A, NM_001015054.3:c.640T>A, NM_001015054.2:c.640T>A, NM_001015052.3:c.676T>A, NM_001015052.2:c.676T>A, NP_002425.2:p.Phe231Ile, NP_001015054.1:p.Phe214Ile, NP_001015052.1:p.Phe226Ile

Select item 147273968713.

rs1472739687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:85453 (GRCh38)
16:135452 (GRCh37)
Canonical SPDI:: NC_000016.10:85452:G:A
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.85453G>A, NC_000016.9:g.135452G>A, NG_029669.2:g.58220C>T, NG_029669.1:g.58247C>T, NM_001039476.3:c.*1252C>T, NM_001077350.3:c.*1252C>T, NM_001243249.2:c.*1252C>T, NM_001243248.2:c.*1252C>T, NM_001243247.2:c.*1252C>T, NM_002434.4:c.573G>A, NM_002434.3:c.573G>A, NM_001015054.3:c.522G>A, NM_001015054.2:c.522G>A, NM_001015052.3:c.558G>A, NM_001015052.2:c.558G>A

Select item 147261599814.

rs1472615998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:83173 (GRCh38)
16:133172 (GRCh37)
Canonical SPDI:: NC_000016.10:83172:A:C,NC_000016.10:83172:A:G
Gene:: MPG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.83173A>C, NC_000016.10:g.83173A>G, NC_000016.9:g.133172A>C, NC_000016.9:g.133172A>G, NM_002434.4:c.437A>C, NM_002434.4:c.437A>G, NM_002434.3:c.437A>C, NM_002434.3:c.437A>G, NM_001015054.3:c.386A>C, NM_001015054.3:c.386A>G, NM_001015054.2:c.386A>C, NM_001015054.2:c.386A>G, NM_001015052.3:c.422A>C, NM_001015052.3:c.422A>G, NM_001015052.2:c.422A>C, NM_001015052.2:c.422A>G, NP_002425.2:p.Asn146Thr, NP_002425.2:p.Asn146Ser, NP_001015054.1:p.Asn129Thr, NP_001015054.1:p.Asn129Ser, NP_001015052.1:p.Asn141Thr, NP_001015052.1:p.Asn141Ser

Select item 146953773015.

rs1469537730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:79551 (GRCh38)
16:129550 (GRCh37)
Canonical SPDI:: NC_000016.10:79550:T:A
Gene:: MPG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.79551T>A, NC_000016.9:g.129550T>A, NM_002434.4:c.166T>A, NM_002434.3:c.166T>A, NM_001015054.3:c.115T>A, NM_001015054.2:c.115T>A, NM_001015052.3:c.151T>A, NM_001015052.2:c.151T>A, NP_002425.2:p.Cys56Ser, NP_001015054.1:p.Cys39Ser, NP_001015052.1:p.Cys51Ser

Select item 146343246716.

rs1463432467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:79681 (GRCh38)
16:129680 (GRCh37)
Canonical SPDI:: NC_000016.10:79680:C:T
Gene:: MPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.79681C>T, NC_000016.9:g.129680C>T, NM_002434.4:c.296C>T, NM_002434.3:c.296C>T, NM_001015054.3:c.245C>T, NM_001015054.2:c.245C>T, NM_001015052.3:c.281C>T, NM_001015052.2:c.281C>T, NP_002425.2:p.Ala99Val, NP_001015054.1:p.Ala82Val, NP_001015052.1:p.Ala94Val

Select item 145755285917.

rs1457552859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:85576 (GRCh38)
16:135575 (GRCh37)
Canonical SPDI:: NC_000016.10:85575:C:T
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.85576C>T, NC_000016.9:g.135575C>T, NG_029669.2:g.58097G>A, NG_029669.1:g.58124G>A, NM_001039476.3:c.*1129G>A, NM_001077350.3:c.*1129G>A, NM_001243249.2:c.*1129G>A, NM_001243248.2:c.*1129G>A, NM_001243247.2:c.*1129G>A, NM_002434.4:c.696C>T, NM_002434.3:c.696C>T, NM_001015054.3:c.645C>T, NM_001015054.2:c.645C>T, NM_001015052.3:c.681C>T, NM_001015052.2:c.681C>T

Select item 145214725018.

rs1452147250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:79503 (GRCh38)
16:129502 (GRCh37)
Canonical SPDI:: NC_000016.10:79502:G:A,NC_000016.10:79502:G:C,NC_000016.10:79502:G:T
Gene:: MPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.79503G>A, NC_000016.10:g.79503G>C, NC_000016.10:g.79503G>T, NC_000016.9:g.129502G>A, NC_000016.9:g.129502G>C, NC_000016.9:g.129502G>T, NM_002434.4:c.118G>A, NM_002434.4:c.118G>C, NM_002434.4:c.118G>T, NM_002434.3:c.118G>A, NM_002434.3:c.118G>C, NM_002434.3:c.118G>T, NM_001015054.3:c.67G>A, NM_001015054.3:c.67G>C, NM_001015054.3:c.67G>T, NM_001015054.2:c.67G>A, NM_001015054.2:c.67G>C, NM_001015054.2:c.67G>T, NM_001015052.3:c.103G>A, NM_001015052.3:c.103G>C, NM_001015052.3:c.103G>T, NM_001015052.2:c.103G>A, NM_001015052.2:c.103G>C, NM_001015052.2:c.103G>T, NP_002425.2:p.Ala40Thr, NP_002425.2:p.Ala40Pro, NP_002425.2:p.Ala40Ser, NP_001015054.1:p.Ala23Thr, NP_001015054.1:p.Ala23Pro, NP_001015054.1:p.Ala23Ser, NP_001015052.1:p.Ala35Thr, NP_001015052.1:p.Ala35Pro, NP_001015052.1:p.Ala35Ser

Select item 145096663619.

rs1450966636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:85537 (GRCh38)
16:135536 (GRCh37)
Canonical SPDI:: NC_000016.10:85536:C:T
Gene:: MPG (Varview), NPRL3 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_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_000016.10:g.85537C>T, NC_000016.9:g.135536C>T, NG_029669.2:g.58136G>A, NG_029669.1:g.58163G>A, NM_001039476.3:c.*1168G>A, NM_001077350.3:c.*1168G>A, NM_001243249.2:c.*1168G>A, NM_001243248.2:c.*1168G>A, NM_001243247.2:c.*1168G>A, NM_002434.4:c.657C>T, NM_002434.3:c.657C>T, NM_001015054.3:c.606C>T, NM_001015054.2:c.606C>T, NM_001015052.3:c.642C>T, NM_001015052.2:c.642C>T

Select item 144988870920.

rs1449888709 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCTTGGGACCGC [Show Flanks]
Chromosome:: 16:79562 (GRCh38)
16:129562 (GRCh37)
Canonical SPDI:: NC_000016.10:79562:CGCTGCTTGGGACCGC:CGCTGCTTGGGACCGCTGCTTGGGACCGC
Gene:: MPG (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: CGCTGCTTGGGAC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.79566_79578dup, NC_000016.9:g.129565_129577dup, NM_002434.4:c.181_193dup, NM_002434.3:c.181_193dup, NM_001015054.3:c.130_142dup, NM_001015054.2:c.130_142dup, NM_001015052.3:c.166_178dup, NM_001015052.2:c.166_178dup, NP_002425.2:p.Pro65fs, NP_001015054.1:p.Pro48fs, NP_001015052.1:p.Pro60fs

dbSNP

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