Links from Gene
Items: 1 to 20 of 1000
1.
rs1491503411 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:16856977
(GRCh38)
7:16896602
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16856977::G
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00118/14
(
ALFA)
G=0.00014/4
(TOMMO)
G=0.00938/195
(GnomAD)
- HGVS:
4.
rs1491250373 has merged into rs71007797 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:16869688
(GRCh38)
7:16909312
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16869673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:16869673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:16869673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:16869673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:16869673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:16869673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:16869673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:16869673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:16869673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:16869673:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000007.14:g.16869688_16869694del, NC_000007.14:g.16869689_16869694del, NC_000007.14:g.16869691_16869694del, NC_000007.14:g.16869692_16869694del, NC_000007.14:g.16869693_16869694del, NC_000007.14:g.16869694del, NC_000007.14:g.16869694dup, NC_000007.14:g.16869693_16869694dup, NC_000007.14:g.16869692_16869694dup, NC_000007.14:g.16869691_16869694dup, NC_000007.13:g.16909312_16909318del, NC_000007.13:g.16909313_16909318del, NC_000007.13:g.16909315_16909318del, NC_000007.13:g.16909316_16909318del, NC_000007.13:g.16909317_16909318del, NC_000007.13:g.16909318del, NC_000007.13:g.16909318dup, NC_000007.13:g.16909317_16909318dup, NC_000007.13:g.16909316_16909318dup, NC_000007.13:g.16909315_16909318dup
5.
rs1491197589 has merged into rs34712776 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 7:16856991
(GRCh38)
7:16896615
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16856976:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:16856976:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:16856976:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:16856976:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:16856976:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:16856976:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.4221/2114
(1000Genomes)
- HGVS:
NC_000007.14:g.16856991_16856992del, NC_000007.14:g.16856992del, NC_000007.14:g.16856992dup, NC_000007.14:g.16856991_16856992dup, NC_000007.14:g.16856990_16856992dup, NC_000007.14:g.16856989_16856992dup, NC_000007.13:g.16896615_16896616del, NC_000007.13:g.16896616del, NC_000007.13:g.16896616dup, NC_000007.13:g.16896615_16896616dup, NC_000007.13:g.16896614_16896616dup, NC_000007.13:g.16896613_16896616dup
7.
rs1491163593 has merged into rs111311358 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 7:16856848
(GRCh38)
7:16896472
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16856838:ACACACACACACACACACACA:ACACACACA,NC_000007.14:16856838:ACACACACACACACACACACA:ACACACACACA,NC_000007.14:16856838:ACACACACACACACACACACA:ACACACACACACA,NC_000007.14:16856838:ACACACACACACACACACACA:ACACACACACACACA,NC_000007.14:16856838:ACACACACACACACACACACA:ACACACACACACACACA,NC_000007.14:16856838:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000007.14:16856838:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000007.14:16856838:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000007.14:16856838:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000007.14:16856838:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
AC=0.025/1
(GENOME_DK)
AC=0.113219/567
(1000Genomes)
AC=0.116822/25
(Vietnamese)
AC=0.166667/100
(NorthernSweden)
- HGVS:
NC_000007.14:g.16856840CA[4], NC_000007.14:g.16856840CA[5], NC_000007.14:g.16856840CA[6], NC_000007.14:g.16856840CA[7], NC_000007.14:g.16856840CA[8], NC_000007.14:g.16856840CA[9], NC_000007.14:g.16856840CA[11], NC_000007.14:g.16856840CA[12], NC_000007.14:g.16856840CA[13], NC_000007.14:g.16856840CA[14], NC_000007.13:g.16896464CA[4], NC_000007.13:g.16896464CA[5], NC_000007.13:g.16896464CA[6], NC_000007.13:g.16896464CA[7], NC_000007.13:g.16896464CA[8], NC_000007.13:g.16896464CA[9], NC_000007.13:g.16896464CA[11], NC_000007.13:g.16896464CA[12], NC_000007.13:g.16896464CA[13], NC_000007.13:g.16896464CA[14]
9.
rs1491139941 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 7:16880468
(GRCh38)
7:16920093
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16880468:T:TTT
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TT=0.001076/131
(GnomAD)
- HGVS:
10.
rs1491049362 has merged into rs34203592 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:16878127
(GRCh38)
7:16917751
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16878116:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:16878116:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:16878116:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:16878116:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:16878116:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:16878116:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:16878116:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:16878116:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.175/7
(GENOME_DK)
T=0.1855/929
(1000Genomes)
T=0.19616/756
(ALSPAC)
T=0.20388/756
(TWINSUK)
T=0.25167/151
(NorthernSweden)
- HGVS:
NC_000007.14:g.16878127_16878129del, NC_000007.14:g.16878128_16878129del, NC_000007.14:g.16878129del, NC_000007.14:g.16878129dup, NC_000007.14:g.16878128_16878129dup, NC_000007.14:g.16878127_16878129dup, NC_000007.14:g.16878121_16878129dup, NC_000007.14:g.16878118_16878129dup, NC_000007.13:g.16917751_16917753del, NC_000007.13:g.16917752_16917753del, NC_000007.13:g.16917753del, NC_000007.13:g.16917753dup, NC_000007.13:g.16917752_16917753dup, NC_000007.13:g.16917751_16917753dup, NC_000007.13:g.16917745_16917753dup, NC_000007.13:g.16917742_16917753dup
11.
rs1491047501 has merged into rs199999903 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCTAC
[Show Flanks]
- Chromosome:
- 7:16880529
(GRCh38)
7:16920154
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16880529:C:CTCTAC
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCTAC=0./0
(
ALFA)
CTCTA=0.0003/22
(GnomAD)
- HGVS:
12.
rs1491027159 has merged into rs1554282183 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA
[Show Flanks]
- Chromosome:
- 7:16877880
(GRCh38)
7:16917504
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16877876:AGAGAGA:AGA,NC_000007.14:16877876:AGAGAGA:AGAGA,NC_000007.14:16877876:AGAGAGA:AGAGAGAGA
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGA=0./0
(
ALFA)
AG=0.00011/2
(TOMMO)
- HGVS:
13.
rs1490966632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:16875485
(GRCh38)
7:16915109
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16875484:C:T
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
14.
rs1490923716 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 7:16869676
(GRCh38)
7:16909301
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16869676:T:TGT
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0.000325/6
(
ALFA)
TG=0.000632/82
(GnomAD)
TG=0.003079/50
(TOMMO)
- HGVS:
15.
rs1490903826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:16864477
(GRCh38)
7:16904101
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16864476:A:C
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490684627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 7:16870206
(GRCh38)
7:16909830
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16870205:T:C,NC_000007.14:16870205:T:G
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
19.
rs1490541038 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:16857362
(GRCh38)
7:16896986
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16857361:A:G
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490468576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:16872383
(GRCh38)
7:16912007
(GRCh37)
- Canonical SPDI:
- NC_000007.14:16872382:C:T
- Gene:
- AGR3 (Varview)
- Functional Consequence:
- 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: