Links from Nucleotide
Items: 1 to 20 of 341
1.
rs1489280443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:36132373
(GRCh38)
21:37504671
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132372:G:A
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
2.
rs1488527464 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GAGTATGGG>-
[Show Flanks]
- Chromosome:
- 21:36132549
(GRCh38)
21:37504847
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132548:GAGTATGGG:
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1486504292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:36132673
(GRCh38)
21:37504971
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132672:T:C
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1485302803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:36131775
(GRCh38)
21:37504073
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36131774:A:G
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1484515628 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:36133010
(GRCh38)
21:37505308
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36133009:G:A
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
6.
rs1483265799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 21:36132023
(GRCh38)
21:37504321
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132022:C:A
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1473295332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 21:36132730
(GRCh38)
21:37505028
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132729:T:A
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_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:
8.
rs1472739925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:36131829
(GRCh38)
21:37504127
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36131828:A:G
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000036/5
(GnomAD)
G=0.000156/1
(1000Genomes)
G=0.000546/1
(Korea1K)
G=0.001027/3
(KOREAN)
- HGVS:
9.
rs1466487926 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 21:36131795
(GRCh38)
21:37504093
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36131794:G:A,NC_000021.9:36131794:G:C
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000021.9:g.36131795G>A, NC_000021.9:g.36131795G>C, NC_000021.8:g.37504093G>A, NC_000021.8:g.37504093G>C, NG_005842.4:g.1424G>A, NG_005842.4:g.1424G>C, NG_052818.1:g.1895G>A, NG_052818.1:g.1895G>C, NR_038892.1:n.1547C>T, NR_038892.1:n.1547C>G, NR_038893.1:n.1472C>T, NR_038893.1:n.1472C>G
10.
rs1462818216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:36132161
(GRCh38)
21:37504459
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132160:A:G
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1462018720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 21:36132773
(GRCh38)
21:37505071
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132772:T:G
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1459601519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 21:36131860
(GRCh38)
21:37504158
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36131859:T:C,NC_000021.9:36131859:T:G
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.5/1
(SGDP_PRJ)
- HGVS:
NC_000021.9:g.36131860T>C, NC_000021.9:g.36131860T>G, NC_000021.8:g.37504158T>C, NC_000021.8:g.37504158T>G, NG_005842.4:g.1489T>C, NG_005842.4:g.1489T>G, NG_052818.1:g.1960T>C, NG_052818.1:g.1960T>G, NR_038892.1:n.1482A>G, NR_038892.1:n.1482A>C, NR_038893.1:n.1407A>G, NR_038893.1:n.1407A>C
13.
rs1459516005 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:36132510
(GRCh38)
21:37504808
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132509:G:A
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_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:
14.
rs1458551427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 21:36132844
(GRCh38)
21:37505142
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132843:T:C,NC_000021.9:36132843:T:G
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000021.9:g.36132844T>C, NC_000021.9:g.36132844T>G, NC_000021.8:g.37505142T>C, NC_000021.8:g.37505142T>G, NG_003259.7:g.551T>C, NG_003259.7:g.551T>G, NG_052818.1:g.2944T>C, NG_052818.1:g.2944T>G, NR_038892.1:n.498A>G, NR_038892.1:n.498A>C, NR_038893.1:n.423A>G, NR_038893.1:n.423A>C
15.
rs1458017595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:36132380
(GRCh38)
21:37504678
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132379:A:G
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1457875237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 21:36133759
(GRCh38)
21:37506057
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36133758:A:C
- Gene:
- CBR3 (Varview), CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000019/2
(GnomAD)
- HGVS:
17.
rs1457022413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:36132245
(GRCh38)
21:37504543
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132244:G:A
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1453083268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 21:36132854
(GRCh38)
21:37505152
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132853:G:A,NC_000021.9:36132853:G:C
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000108/2
(
ALFA)
A=0.000034/9
(TOPMED)
A=0.000064/9
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
NC_000021.9:g.36132854G>A, NC_000021.9:g.36132854G>C, NC_000021.8:g.37505152G>A, NC_000021.8:g.37505152G>C, NG_003259.7:g.561G>A, NG_003259.7:g.561G>C, NG_052818.1:g.2954G>A, NG_052818.1:g.2954G>C, NR_038892.1:n.488C>T, NR_038892.1:n.488C>G, NR_038893.1:n.413C>T, NR_038893.1:n.413C>G
20.
rs1445629266 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:36132864
(GRCh38)
21:37505162
(GRCh37)
- Canonical SPDI:
- NC_000021.9:36132863:G:A
- Gene:
- CBR3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: