Links from Gene
Items: 1 to 20 of 1000
2.
rs1490573800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:22982903
(GRCh38)
14:23452112
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22982902:G:A
- Gene:
- AJUBA (Varview), AJUBA-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490269830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:22977968
(GRCh38)
14:23447177
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22977967:A:C
- Gene:
- AJUBA (Varview), LOC124903287 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00599/71
(
ALFA)
C=0.00078/22
(TOMMO)
C=0.04227/122
(KOREAN)
- HGVS:
4.
rs1489800128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:22972859
(GRCh38)
14:23442068
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22972858:C:A,NC_000014.9:22972858:C:T
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.22972859C>A, NC_000014.9:g.22972859C>T, NC_000014.8:g.23442068C>A, NC_000014.8:g.23442068C>T, NM_032876.6:c.*584G>T, NM_032876.6:c.*584G>A, NM_032876.5:c.*584G>T, NM_032876.5:c.*584G>A, NM_032876.4:c.*584G>T, NM_032876.4:c.*584G>A, NM_198086.3:c.*584G>T, NM_198086.3:c.*584G>A, NM_198086.2:c.*584G>T, NM_198086.2:c.*584G>A, NM_198086.1:c.*584G>T, NM_198086.1:c.*584G>A
5.
rs1489592745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:22976627
(GRCh38)
14:23445836
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22976626:C:G
- Gene:
- AJUBA (Varview), LOC124903287 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
7.
rs1489088433 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:22981945
(GRCh38)
14:23451155
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22981945:GGGGGG:GGGGGGG
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00004/1
(TOMMO)
- HGVS:
8.
rs1489019636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:22980219
(GRCh38)
14:23449428
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22980218:A:G
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00005/7
(GnomAD)
- HGVS:
9.
rs1488718002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:22975069
(GRCh38)
14:23444278
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22975068:G:A
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1488405191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:22972381
(GRCh38)
14:23441590
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22972380:C:T
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
12.
rs1488399030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:22978493
(GRCh38)
14:23447702
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22978492:G:A
- Gene:
- AJUBA (Varview), LOC124903287 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000142/2
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
13.
rs1488055032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:22971886
(GRCh38)
14:23441095
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22971885:A:G
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487841578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:22978294
(GRCh38)
14:23447503
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22978293:G:A
- Gene:
- AJUBA (Varview), LOC124903287 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1487570257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:22973289
(GRCh38)
14:23442498
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22973288:A:G
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1487560758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:22970817
(GRCh38)
14:23440026
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22970816:C:A
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00049/8
(
ALFA)
A=0.025/73
(KOREAN)
- HGVS:
17.
rs1487496923 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:22974184
(GRCh38)
14:23443393
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22974183:C:G,NC_000014.9:22974183:C:T
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1487054254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:22979208
(GRCh38)
14:23448417
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22979207:A:C
- Gene:
- AJUBA (Varview), LOC124903287 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000142/2
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
19.
rs1486909840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:22970799
(GRCh38)
14:23440008
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22970798:A:G
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.0007/3
(
ALFA)
G=0.0007/2
(KOREAN)
- HGVS:
20.
rs1486843879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:22971361
(GRCh38)
14:23440570
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22971360:T:C
- Gene:
- AJUBA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: