SNP Links for Gene (Select 10533) - SNP

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Select item 14915756721.

rs1491575672 has merged into rs1201010073 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 3:11375053 (GRCh38)
3:11416527 (GRCh37)
Canonical SPDI:: NC_000003.12:11375039:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:11375039:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:11375039:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:11375039:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:11375039:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.11375053_11375056del, NC_000003.12:g.11375055_11375056del, NC_000003.12:g.11375056del, NC_000003.12:g.11375056dup, NC_000003.12:g.11375055_11375056dup, NC_000003.11:g.11416527_11416530del, NC_000003.11:g.11416529_11416530del, NC_000003.11:g.11416530del, NC_000003.11:g.11416530dup, NC_000003.11:g.11416529_11416530dup

Select item 14915654822.

rs1491565482 has merged into rs55893689 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:11303926 (GRCh38)
3:11345400 (GRCh37)
Canonical SPDI:: NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11303917:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATG7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.11303926_11303941del, NC_000003.12:g.11303928_11303941del, NC_000003.12:g.11303929_11303941del, NC_000003.12:g.11303931_11303941del, NC_000003.12:g.11303932_11303941del, NC_000003.12:g.11303934_11303941del, NC_000003.12:g.11303935_11303941del, NC_000003.12:g.11303936_11303941del, NC_000003.12:g.11303937_11303941del, NC_000003.12:g.11303938_11303941del, NC_000003.12:g.11303939_11303941del, NC_000003.12:g.11303940_11303941del, NC_000003.12:g.11303941del, NC_000003.12:g.11303941dup, NC_000003.12:g.11303940_11303941dup, NC_000003.12:g.11303939_11303941dup, NC_000003.12:g.11303938_11303941dup, NC_000003.12:g.11303937_11303941dup, NC_000003.12:g.11303936_11303941dup, NC_000003.12:g.11303934_11303941dup, NC_000003.12:g.11303933_11303941dup, NC_000003.12:g.11303932_11303941dup, NC_000003.12:g.11303931_11303941dup, NC_000003.12:g.11303930_11303941dup, NC_000003.12:g.11303927_11303941dup, NC_000003.11:g.11345400_11345415del, NC_000003.11:g.11345402_11345415del, NC_000003.11:g.11345403_11345415del, NC_000003.11:g.11345405_11345415del, NC_000003.11:g.11345406_11345415del, NC_000003.11:g.11345408_11345415del, NC_000003.11:g.11345409_11345415del, NC_000003.11:g.11345410_11345415del, NC_000003.11:g.11345411_11345415del, NC_000003.11:g.11345412_11345415del, NC_000003.11:g.11345413_11345415del, NC_000003.11:g.11345414_11345415del, NC_000003.11:g.11345415del, NC_000003.11:g.11345415dup, NC_000003.11:g.11345414_11345415dup, NC_000003.11:g.11345413_11345415dup, NC_000003.11:g.11345412_11345415dup, NC_000003.11:g.11345411_11345415dup, NC_000003.11:g.11345410_11345415dup, NC_000003.11:g.11345408_11345415dup, NC_000003.11:g.11345407_11345415dup, NC_000003.11:g.11345406_11345415dup, NC_000003.11:g.11345405_11345415dup, NC_000003.11:g.11345404_11345415dup, NC_000003.11:g.11345401_11345415dup

Select item 14915608153.

rs1491560815 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:11431389 (GRCh38)
3:11472863 (GRCh37)
Canonical SPDI:: NC_000003.12:11431388:GA:
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.11431389_11431390del, NC_000003.11:g.11472863_11472864del

Select item 14915521054.

rs1491552105 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATTAT [Show Flanks]
Chromosome:: 3:11417801 (GRCh38)
3:11459276 (GRCh37)
Canonical SPDI:: NC_000003.12:11417801:T:TAT,NC_000003.12:11417801:T:TATTAT
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTAT=0./0 (ALFA)
TA=0.00065/9 (TOMMO)
TA=0.0023/64 (GnomAD)
HGVS:: NC_000003.12:g.11417802_11417803insAT, NC_000003.12:g.11417802_11417803insATTAT, NC_000003.11:g.11459276_11459277insAT, NC_000003.11:g.11459276_11459277insATTAT

Select item 14915293505.

rs1491529350 [Homo sapiens]

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

Select item 14915085266.

rs1491508526 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:11506585 (GRCh38)
3:11548060 (GRCh37)
Canonical SPDI:: NC_000003.12:11506585::A
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.11506585_11506586insA, NC_000003.11:g.11548059_11548060insA

Select item 14915025117.

rs1491502511 has merged into rs1314378737 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTGTTTTTTTTTTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:11417803 (GRCh38)
3:11459277 (GRCh37)
Canonical SPDI:: NC_000003.12:11417800:TTTT:TT,NC_000003.12:11417800:TTTT:TTTTT,NC_000003.12:11417800:TTTT:TTTTTT,NC_000003.12:11417800:TTTT:TTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTGTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11417800:TTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.33213/184 (NorthernSweden)
HGVS:: NC_000003.12:g.11417803_11417804del, NC_000003.12:g.11417804dup, NC_000003.12:g.11417803_11417804dup, NC_000003.12:g.11417802_11417804dup, NC_000003.12:g.11417801_11417804dup, NC_000003.12:g.11417801_11417804T[8]GTTTTTTTTTTTTTT[1], NC_000003.12:g.11417804_11417805insTTTTT, NC_000003.12:g.11417804_11417805insTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11417804_11417805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11459277_11459278del, NC_000003.11:g.11459278dup, NC_000003.11:g.11459277_11459278dup, NC_000003.11:g.11459276_11459278dup, NC_000003.11:g.11459275_11459278dup, NC_000003.11:g.11459275_11459278T[8]GTTTTTTTTTTTTTT[1], NC_000003.11:g.11459278_11459279insTTTTT, NC_000003.11:g.11459278_11459279insTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11459278_11459279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914931508.

rs1491493150 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:11452384 (GRCh38)
3:11493858 (GRCh37)
Canonical SPDI:: NC_000003.12:11452383:CA:
Gene:: ATG7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.11452384_11452385del, NC_000003.11:g.11493858_11493859del, XM_047447293.1:c.*2162_*2163del

Select item 14914915819.

rs1491491581 has merged into rs370910174 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC [Show Flanks]
Chromosome:: 3:11506586 (GRCh38)
3:11548060 (GRCh37)
Canonical SPDI:: NC_000003.12:11506584:CCC:C,NC_000003.12:11506584:CCC:CC,NC_000003.12:11506584:CCC:CCCC
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.11542/578 (1000Genomes)
HGVS:: NC_000003.12:g.11506586_11506587del, NC_000003.12:g.11506587del, NC_000003.12:g.11506587dup, NC_000003.11:g.11548060_11548061del, NC_000003.11:g.11548061del, NC_000003.11:g.11548061dup

Select item 149148430410.

rs1491484304 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:11289867 (GRCh38)
3:11331554 (GRCh37)
Canonical SPDI:: NC_000003.12:11289867:C:CC
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.11289868dup, NC_000003.11:g.11331554dup, NG_082922.1:g.1391dup

Select item 149148065411.

rs1491480654 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:11478989 (GRCh38)
3:11520463 (GRCh37)
Canonical SPDI:: NC_000003.12:11478988:AA:
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000023/1 (GnomAD)
HGVS:: NC_000003.12:g.11478989_11478990del, NC_000003.11:g.11520463_11520464del

Select item 149147830712.

rs1491478307 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:11433289 (GRCh38)
3:11474763 (GRCh37)
Canonical SPDI:: NC_000003.12:11433288:TA:
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.11433289_11433290del, NC_000003.11:g.11474763_11474764del

Select item 149147671013.

rs1491476710 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:11378685 (GRCh38)
3:11420159 (GRCh37)
Canonical SPDI:: NC_000003.12:11378684:CA:
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00032/7 (GnomAD)
HGVS:: NC_000003.12:g.11378685_11378686del, NC_000003.11:g.11420159_11420160del

Select item 149146018614.

rs1491460186 has merged into rs36100546 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:11409786 (GRCh38)
3:11451260 (GRCh37)
Canonical SPDI:: NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:11409775:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3804/1466 (ALSPAC)
-=0.3867/1434 (TWINSUK)
-=0.4/16 (GENOME_DK)
-=0.4924/2466 (1000Genomes)
HGVS:: NC_000003.12:g.11409786_11409789del, NC_000003.12:g.11409788_11409789del, NC_000003.12:g.11409789del, NC_000003.12:g.11409789dup, NC_000003.12:g.11409788_11409789dup, NC_000003.12:g.11409787_11409789dup, NC_000003.12:g.11409786_11409789dup, NC_000003.12:g.11409776_11409789T[21]GTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.11451260_11451263del, NC_000003.11:g.11451262_11451263del, NC_000003.11:g.11451263del, NC_000003.11:g.11451263dup, NC_000003.11:g.11451262_11451263dup, NC_000003.11:g.11451261_11451263dup, NC_000003.11:g.11451260_11451263dup, NC_000003.11:g.11451250_11451263T[21]GTTTTTTTTTTTTTTTTTTT[1]

Select item 149145698615.

rs1491456986 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:11303917 (GRCh38)
3:11345391 (GRCh37)
Canonical SPDI:: NC_000003.12:11303916:CA:
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.11303917_11303918del, NC_000003.11:g.11345391_11345392del

Select item 149145491616.

rs1491454916 has merged into rs11377789 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:11528834 (GRCh38)
3:11570308 (GRCh37)
Canonical SPDI:: NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:11528825:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.223842/1121 (1000Genomes)
HGVS:: NC_000003.12:g.11528834_11528846del, NC_000003.12:g.11528835_11528846del, NC_000003.12:g.11528838_11528846del, NC_000003.12:g.11528839_11528846del, NC_000003.12:g.11528840_11528846del, NC_000003.12:g.11528841_11528846del, NC_000003.12:g.11528842_11528846del, NC_000003.12:g.11528843_11528846del, NC_000003.12:g.11528844_11528846del, NC_000003.12:g.11528845_11528846del, NC_000003.12:g.11528846del, NC_000003.12:g.11528846dup, NC_000003.12:g.11528845_11528846dup, NC_000003.12:g.11528844_11528846dup, NC_000003.12:g.11528843_11528846dup, NC_000003.12:g.11528842_11528846dup, NC_000003.11:g.11570308_11570320del, NC_000003.11:g.11570309_11570320del, NC_000003.11:g.11570312_11570320del, NC_000003.11:g.11570313_11570320del, NC_000003.11:g.11570314_11570320del, NC_000003.11:g.11570315_11570320del, NC_000003.11:g.11570316_11570320del, NC_000003.11:g.11570317_11570320del, NC_000003.11:g.11570318_11570320del, NC_000003.11:g.11570319_11570320del, NC_000003.11:g.11570320del, NC_000003.11:g.11570320dup, NC_000003.11:g.11570319_11570320dup, NC_000003.11:g.11570318_11570320dup, NC_000003.11:g.11570317_11570320dup, NC_000003.11:g.11570316_11570320dup

Select item 149145406717.

rs1491454067 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTT [Show Flanks]
Chromosome:: 3:11521558 (GRCh38)
3:11563033 (GRCh37)
Canonical SPDI:: NC_000003.12:11521558:TTTTTT:TTTTTTGTTTTTT
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTGTTTTTT=0./0 (ALFA)
TTTTTTG=0.00077/3 (GnomAD)
HGVS:: NC_000003.12:g.11521559_11521564T[6]GTTTTTT[1], NC_000003.11:g.11563033_11563038T[6]GTTTTTT[1]

Select item 149143765818.

rs1491437658 has merged into rs67206280 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:11439079 (GRCh38)
3:11480553 (GRCh37)
Canonical SPDI:: NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:11439069:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.11439079_11439086del, NC_000003.12:g.11439080_11439086del, NC_000003.12:g.11439081_11439086del, NC_000003.12:g.11439082_11439086del, NC_000003.12:g.11439083_11439086del, NC_000003.12:g.11439084_11439086del, NC_000003.12:g.11439085_11439086del, NC_000003.12:g.11439086del, NC_000003.12:g.11439086dup, NC_000003.12:g.11439085_11439086dup, NC_000003.12:g.11439084_11439086dup, NC_000003.12:g.11439083_11439086dup, NC_000003.12:g.11439082_11439086dup, NC_000003.12:g.11439081_11439086dup, NC_000003.12:g.11439080_11439086dup, NC_000003.12:g.11439079_11439086dup, NC_000003.12:g.11439078_11439086dup, NC_000003.12:g.11439077_11439086dup, NC_000003.12:g.11439076_11439086dup, NC_000003.12:g.11439075_11439086dup, NC_000003.12:g.11439074_11439086dup, NC_000003.12:g.11439073_11439086dup, NC_000003.12:g.11439072_11439086dup, NC_000003.12:g.11439071_11439086dup, NC_000003.12:g.11439070_11439086dup, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.11439086_11439087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480553_11480560del, NC_000003.11:g.11480554_11480560del, NC_000003.11:g.11480555_11480560del, NC_000003.11:g.11480556_11480560del, NC_000003.11:g.11480557_11480560del, NC_000003.11:g.11480558_11480560del, NC_000003.11:g.11480559_11480560del, NC_000003.11:g.11480560del, NC_000003.11:g.11480560dup, NC_000003.11:g.11480559_11480560dup, NC_000003.11:g.11480558_11480560dup, NC_000003.11:g.11480557_11480560dup, NC_000003.11:g.11480556_11480560dup, NC_000003.11:g.11480555_11480560dup, NC_000003.11:g.11480554_11480560dup, NC_000003.11:g.11480553_11480560dup, NC_000003.11:g.11480552_11480560dup, NC_000003.11:g.11480551_11480560dup, NC_000003.11:g.11480550_11480560dup, NC_000003.11:g.11480549_11480560dup, NC_000003.11:g.11480548_11480560dup, NC_000003.11:g.11480547_11480560dup, NC_000003.11:g.11480546_11480560dup, NC_000003.11:g.11480545_11480560dup, NC_000003.11:g.11480544_11480560dup, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.11480560_11480561insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149143594119.

rs1491435941 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:11400840 (GRCh38)
3:11442314 (GRCh37)
Canonical SPDI:: NC_000003.12:11400839:CA:
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000094/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.11400840_11400841del, NC_000003.11:g.11442314_11442315del

Select item 149140929120.

rs1491409291 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:11546189 (GRCh38)
3:11587663 (GRCh37)
Canonical SPDI:: NC_000003.12:11546188:TG:
Gene:: ATG7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.11546189_11546190del, NC_000003.11:g.11587663_11587664del

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