Links from Gene
Items: 1 to 20 of 1605
1.
rs1490507111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:121283704
(GRCh38)
9:124045982
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121283703:T:C
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490460618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:121284917
(GRCh38)
9:124047195
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121284916:C:T
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490271198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:121285264
(GRCh38)
9:124047542
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121285263:G:A
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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:
4.
rs1490203951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:121286106
(GRCh38)
9:124048384
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121286105:T:C
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000008/1
(GnomAD_exomes)
- HGVS:
NC_000009.12:g.121286106T>C, NC_000009.11:g.124048384T>C, NG_012872.2:g.90025T>C, NM_001353069.2:c.-127T>C, NM_001353069.1:c.-127T>C, NM_001258029.2:c.-38T>C, NM_001258029.1:c.-38T>C, XM_017014645.2:c.-225T>C, XM_011518585.2:c.-38T>C, XM_011518585.1:c.-38T>C, XM_047423271.1:c.-118T>C
5.
rs1489550396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:121282626
(GRCh38)
9:124044904
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121282625:A:G
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000446/2
(Estonian)
- HGVS:
6.
rs1489258858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:121284798
(GRCh38)
9:124047076
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121284797:A:C
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_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:
7.
rs1488913969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:121286984
(GRCh38)
9:124049262
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121286983:G:T
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488792266 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:121286353
(GRCh38)
9:124048631
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121286352:G:T
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1488501087 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:121286261
(GRCh38)
9:124048539
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121286260:C:T
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487989533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:121280420
(GRCh38)
9:124042698
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121280419:C:A,NC_000009.12:121280419:C:T
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
11.
rs1486262533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:121281300
(GRCh38)
9:124043578
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121281299:A:G
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1484884765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:121285886
(GRCh38)
9:124048164
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121285885:G:C
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_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:
13.
rs1484617181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:121281785
(GRCh38)
9:124044063
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121281784:A:C
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS:
14.
rs1484071050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:121281218
(GRCh38)
9:124043496
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121281217:C:A
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000009.12:g.121281218C>A, NC_000009.11:g.124043496C>A, NG_012872.2:g.85137C>A, NM_001353066.2:c.-146C>A, NM_001353066.1:c.-146C>A, NM_001353061.2:c.-108C>A, NM_001353061.1:c.-108C>A, NM_001353058.2:c.-100C>A, NM_001353058.1:c.-100C>A, NR_103560.1:n.4313G>T, NM_020250.1:c.*341G>T
15.
rs1483793409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:121282396
(GRCh38)
9:124044674
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121282395:G:A,NC_000009.12:121282395:G:T
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000009.12:g.121282396G>A, NC_000009.12:g.121282396G>T, NC_000009.11:g.124044674G>A, NC_000009.11:g.124044674G>T, NG_012872.2:g.86315G>A, NG_012872.2:g.86315G>T, NM_001353059.2:c.-156G>A, NM_001353059.2:c.-156G>T, NM_001353059.1:c.-156G>A, NM_001353059.1:c.-156G>T, NR_103560.1:n.3135C>T, NR_103560.1:n.3135C>A, NM_020250.1:c.-346C>T, NM_020250.1:c.-346C>A
16.
rs1482429718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:121283848
(GRCh38)
9:124046126
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121283847:A:T
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1481836582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:121283361
(GRCh38)
9:124045639
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121283360:G:A
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1481552946 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGTCATGG
[Show Flanks]
- Chromosome:
- 9:121282024
(GRCh38)
9:124044303
(GRCh37)
- Canonical SPDI:
- NC_000009.12:121282024:GAGTCATGG:GAGTCATGGAGTCATGG
- Gene:
- GSN (Varview), GSN-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
GAGTCATG=0.000007/1
(GnomAD_exomes)
- HGVS: