SNP Links for Gene (Select 100652999) - SNP

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 12:53517546 (GRCh38)
12:53911330 (GRCh37)
Canonical SPDI:: NC_000012.12:53517542:AAGAAG:AAG
Gene:: ATF7 (Varview), LOC100652999 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.53517543AAG[1], NC_000012.11:g.53911327AAG[1], NR_046221.1:n.2232AAG[1]

Select item 148585857411.

rs1485858574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:53517698 (GRCh38)
12:53911482 (GRCh37)
Canonical SPDI:: NC_000012.12:53517697:T:C,NC_000012.12:53517697:T:G
Gene:: ATF7 (Varview), LOC100652999 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.53517698T>C, NC_000012.12:g.53517698T>G, NC_000012.11:g.53911482T>C, NC_000012.11:g.53911482T>G

Select item 148520740512.

rs1485207405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:53516993 (GRCh38)
12:53910777 (GRCh37)
Canonical SPDI:: NC_000012.12:53516992:C:A
Gene:: ATF7 (Varview), LOC100652999 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_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_000012.12:g.53516993C>A, NC_000012.11:g.53910777C>A, NM_006856.3:c.*144G>T, NM_006856.2:c.*144G>T, NM_001366558.2:c.*144G>T, NM_001366558.1:c.*144G>T, NM_001366555.2:c.*144G>T, NM_001366555.1:c.*144G>T, NM_001130060.2:c.*144G>T, NM_001130060.1:c.*144G>T, NM_001366556.2:c.*144G>T, NM_001366556.1:c.*144G>T, NM_001366561.2:c.*144G>T, NM_001366561.1:c.*144G>T, NM_001130059.1:c.*144G>T, NR_046221.1:n.1682C>A

Select item 148495149113.

rs1484951491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:53517739 (GRCh38)
12:53911523 (GRCh37)
Canonical SPDI:: NC_000012.12:53517738:C:G
Gene:: ATF7 (Varview), LOC100652999 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.53517739C>G, NC_000012.11:g.53911523C>G

Select item 148487858014.

rs1484878580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53516454 (GRCh38)
12:53910238 (GRCh37)
Canonical SPDI:: NC_000012.12:53516453:G:C
Gene:: ATF7 (Varview), LOC100652999 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53516454G>C, NC_000012.11:g.53910238G>C, NM_006856.3:c.*683C>G, NM_006856.2:c.*683C>G, NM_001366558.2:c.*683C>G, NM_001366558.1:c.*683C>G, NM_001366555.2:c.*683C>G, NM_001366555.1:c.*683C>G, NM_001130060.2:c.*683C>G, NM_001130060.1:c.*683C>G, NM_001366556.2:c.*683C>G, NM_001366556.1:c.*683C>G, NM_001366561.2:c.*683C>G, NM_001366561.1:c.*683C>G, NM_001130059.1:c.*683C>G, NR_046221.1:n.1143G>C

Select item 148182917415.

rs1481829174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53513919 (GRCh38)
12:53907703 (GRCh37)
Canonical SPDI:: NC_000012.12:53513918:G:A
Gene:: ATF7 (Varview), LOC100652999 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,genic_downstream_transcript_variant,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_000012.12:g.53513919G>A, NC_000012.11:g.53907703G>A, NM_006856.3:c.*3218C>T, NM_006856.2:c.*3218C>T, NM_001366558.2:c.*3218C>T, NM_001366558.1:c.*3218C>T, NM_001366555.2:c.*3218C>T, NM_001366555.1:c.*3218C>T, NM_001130060.2:c.*3218C>T, NM_001130060.1:c.*3218C>T, NM_001366556.2:c.*3218C>T, NM_001366556.1:c.*3218C>T, NM_001366561.2:c.*3218C>T, NM_001366561.1:c.*3218C>T, NM_001130059.1:c.*3218C>T

Select item 148099864916.

rs1480998649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53514089 (GRCh38)
12:53907873 (GRCh37)
Canonical SPDI:: NC_000012.12:53514088:C:T
Gene:: ATF7 (Varview), LOC100652999 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_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_000012.12:g.53514089C>T, NC_000012.11:g.53907873C>T, NM_006856.3:c.*3048G>A, NM_006856.2:c.*3048G>A, NM_001366558.2:c.*3048G>A, NM_001366558.1:c.*3048G>A, NM_001366555.2:c.*3048G>A, NM_001366555.1:c.*3048G>A, NM_001130060.2:c.*3048G>A, NM_001130060.1:c.*3048G>A, NM_001366556.2:c.*3048G>A, NM_001366556.1:c.*3048G>A, NM_001366561.2:c.*3048G>A, NM_001366561.1:c.*3048G>A, NM_001130059.1:c.*3048G>A

Select item 148089101317.

rs1480891013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53517093 (GRCh38)
12:53910877 (GRCh37)
Canonical SPDI:: NC_000012.12:53517092:G:A
Gene:: ATF7 (Varview), LOC100652999 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53517093G>A, NC_000012.11:g.53910877G>A, NM_006856.3:c.*44C>T, NM_006856.2:c.*44C>T, NM_001366558.2:c.*44C>T, NM_001366558.1:c.*44C>T, NM_001366555.2:c.*44C>T, NM_001366555.1:c.*44C>T, NM_001130060.2:c.*44C>T, NM_001130060.1:c.*44C>T, NM_001366556.2:c.*44C>T, NM_001366556.1:c.*44C>T, NM_001366561.2:c.*44C>T, NM_001366561.1:c.*44C>T, NR_073163.2:n.1654C>T, NR_073163.1:n.1687C>T, NM_001130059.1:c.*44C>T, NR_046221.1:n.1782G>A, NR_159377.1:n.1621C>T

Select item 147991248618.

rs1479912486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53512883 (GRCh38)
12:53906667 (GRCh37)
Canonical SPDI:: NC_000012.12:53512882:G:A
Gene:: ATF7 (Varview), LOC100652999 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.53512883G>A, NC_000012.11:g.53906667G>A, NM_006856.3:c.*4254C>T, NM_006856.2:c.*4254C>T, NM_001366558.2:c.*4254C>T, NM_001366558.1:c.*4254C>T, NM_001366555.2:c.*4254C>T, NM_001366555.1:c.*4254C>T, NM_001130060.2:c.*4254C>T, NM_001130060.1:c.*4254C>T, NM_001366556.2:c.*4254C>T, NM_001366556.1:c.*4254C>T, NM_001366561.2:c.*4254C>T, NM_001366561.1:c.*4254C>T, NM_001130059.1:c.*4254C>T

Select item 147877129919.

rs1478771299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53512456 (GRCh38)
12:53906240 (GRCh37)
Canonical SPDI:: NC_000012.12:53512455:A:G
Gene:: ATF7 (Varview), LOC100652999 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53512456A>G, NC_000012.11:g.53906240A>G, NM_006856.3:c.*4681T>C, NM_006856.2:c.*4681T>C, NM_001366558.2:c.*4681T>C, NM_001366558.1:c.*4681T>C, NM_001366555.2:c.*4681T>C, NM_001366555.1:c.*4681T>C, NM_001130060.2:c.*4681T>C, NM_001130060.1:c.*4681T>C, NM_001366556.2:c.*4681T>C, NM_001366556.1:c.*4681T>C, NM_001366561.2:c.*4681T>C, NM_001366561.1:c.*4681T>C, NM_001130059.1:c.*4681T>C

Select item 147749852520.

rs1477498525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53512157 (GRCh38)
12:53905941 (GRCh37)
Canonical SPDI:: NC_000012.12:53512156:G:T
Gene:: ATF7 (Varview), LOC100652999 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53512157G>T, NC_000012.11:g.53905941G>T, NM_006856.3:c.*4980C>A, NM_006856.2:c.*4980C>A, NM_001366558.2:c.*4980C>A, NM_001366558.1:c.*4980C>A, NM_001366555.2:c.*4980C>A, NM_001366555.1:c.*4980C>A, NM_001130060.2:c.*4980C>A, NM_001130060.1:c.*4980C>A, NM_001366556.2:c.*4980C>A, NM_001366556.1:c.*4980C>A, NM_001366561.2:c.*4980C>A, NM_001366561.1:c.*4980C>A, NM_001130059.1:c.*4980C>A

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