Links from Gene
Items: 1 to 20 of 4141
1.
rs1491587535 has merged into rs112935232 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CGCGCG>-,CG,CGCG,CGCGCGCG
[Show Flanks]
- Chromosome:
- 3:195584157
(GRCh38)
3:195311028
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195584152:CGCGCGCGCG:CGCG,NC_000003.12:195584152:CGCGCGCGCG:CGCGCG,NC_000003.12:195584152:CGCGCGCGCG:CGCGCGCG,NC_000003.12:195584152:CGCGCGCGCG:CGCGCGCGCGCG
- Gene:
- APOD (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGCGCGCGCGCG=0./0
(
ALFA)
-=0.00819/15
(Korea1K)
-=0.1/4
(GENOME_DK)
-=0.11235/433
(ALSPAC)
- HGVS:
NC_000003.12:g.195584153CG[2], NC_000003.12:g.195584153CG[3], NC_000003.12:g.195584153CG[4], NC_000003.12:g.195584153CG[6], NC_000003.11:g.195311024CG[2], NC_000003.11:g.195311024CG[3], NC_000003.11:g.195311024CG[4], NC_000003.11:g.195311024CG[6], NM_001647.3:c.-319CG[2], NM_001647.3:c.-319CG[3], NM_001647.3:c.-319CG[4], NM_001647.3:c.-319CG[6]
2.
rs1491445950 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 3:195584152
(GRCh38)
3:195311023
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195584151:TC:
- Gene:
- APOD (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00109/7
(1000Genomes)
-=0.00299/244
(GnomAD)
- HGVS:
3.
rs1491403504 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TG
[Show Flanks]
- Chromosome:
- 3:195584152
(GRCh38)
3:195311024
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195584152::TG
- Gene:
- APOD (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TG=0.002951/35
(
ALFA)
TG=0.003393/458
(GnomAD)
- HGVS:
5.
rs1490604348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:195577842
(GRCh38)
3:195304713
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195577841:T:C
- Gene:
- APOD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
6.
rs1490481047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:195584842
(GRCh38)
3:195311713
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195584841:G:A
- Gene:
- APOD (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
7.
rs1490419757 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 3:195573660
(GRCh38)
3:195300531
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195573659:A:C,NC_000003.12:195573659:A:G
- Gene:
- APOD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000132/2
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000446/2
(Estonian)
- HGVS:
8.
rs1490385502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:195571819
(GRCh38)
3:195298690
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195571818:C:T
- Gene:
- APOD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490129800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:195578418
(GRCh38)
3:195305289
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195578417:T:A
- Gene:
- APOD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1490114730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:195577211
(GRCh38)
3:195304082
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195577210:A:G
- Gene:
- APOD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489976141 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 3:195585194
(GRCh38)
3:195312065
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195585192:CAC:C
- Gene:
- APOD (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
13.
rs1489507171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:195577964
(GRCh38)
3:195304835
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195577963:T:A
- Gene:
- APOD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489453995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:195576836
(GRCh38)
3:195303707
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195576835:A:G
- Gene:
- APOD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489240559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:195585040
(GRCh38)
3:195311911
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195585039:A:G
- Gene:
- APOD (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1488726595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:195571831
(GRCh38)
3:195298702
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195571830:G:A,NC_000003.12:195571830:G:T
- Gene:
- APOD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1488471419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:195576349
(GRCh38)
3:195303220
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195576348:T:C
- Gene:
- APOD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1488043663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:195575302
(GRCh38)
3:195302173
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195575301:C:T
- Gene:
- APOD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
19.
rs1487971003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:195584070
(GRCh38)
3:195310941
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195584069:C:G
- Gene:
- APOD (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000132/2
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000446/2
(Estonian)
- HGVS:
20.
rs1487880071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:195578163
(GRCh38)
3:195305034
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195578162:G:A
- Gene:
- APOD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: