Links from Nucleotide
Items: 1 to 20 of 529
1.
rs1486289282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:92421765
(GRCh38)
12:92815541
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92421764:A:G
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
2.
rs1485875983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:92429049
(GRCh38)
12:92822825
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92429048:C:A,NC_000012.12:92429048:C:T
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.92429049C>A, NC_000012.12:g.92429049C>T, NC_000012.11:g.92822825C>A, NC_000012.11:g.92822825C>T, NM_001025233.2:c.*904C>A, NM_001025233.2:c.*904C>T, NR_027931.1:n.1992C>A, NR_027931.1:n.1992C>T, NM_001025233.1:c.*904C>A, NM_001025233.1:c.*904C>T, NR_027932.1:n.878C>A, NR_027932.1:n.878C>T, NR_027933.1:n.321C>A, NR_027933.1:n.321C>T
3.
rs1485211041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:92430015
(GRCh38)
12:92823791
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92430014:A:G
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_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:
4.
rs1483163899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:92421649
(GRCh38)
12:92815425
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92421648:C:T
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
5.
rs1477139247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:92430014
(GRCh38)
12:92823790
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92430013:C:T
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
6.
rs1475006847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:92430554
(GRCh38)
12:92824330
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92430553:C:T
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_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:
7.
rs1474449557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:92430986
(GRCh38)
12:92824762
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92430985:C:G,NC_000012.12:92430985:C:T
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000012.12:g.92430986C>G, NC_000012.12:g.92430986C>T, NC_000012.11:g.92824762C>G, NC_000012.11:g.92824762C>T, NM_001025233.2:c.*2841C>G, NM_001025233.2:c.*2841C>T, NR_027931.1:n.3929C>G, NR_027931.1:n.3929C>T, NR_027932.1:n.2815C>G, NR_027932.1:n.2815C>T, NR_027933.1:n.2258C>G, NR_027933.1:n.2258C>T
8.
rs1473112987 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:92430882
(GRCh38)
12:92824658
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92430881:G:A
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
9.
rs1472301877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:92429888
(GRCh38)
12:92823664
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92429887:A:G
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1470987202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:92430361
(GRCh38)
12:92824137
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92430360:G:T
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1469544039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:92430570
(GRCh38)
12:92824346
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92430569:A:G
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_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.
rs1469399645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:92429610
(GRCh38)
12:92823386
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92429609:A:C
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_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.
rs1469121242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:92430224
(GRCh38)
12:92824000
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92430223:A:T
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_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:
14.
rs1468172277 has merged into rs1202010466 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTATTA>-,TTA
[Show Flanks]
- Chromosome:
- 12:92430027
(GRCh38)
12:92823803
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92430023:TTATTATTA:TTA,NC_000012.12:92430023:TTATTATTA:TTATTA
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTA=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
NC_000012.12:g.92430024TTA[1], NC_000012.12:g.92430024TTA[2], NC_000012.11:g.92823800TTA[1], NC_000012.11:g.92823800TTA[2], NM_001025233.2:c.*1879TTA[1], NM_001025233.2:c.*1879TTA[2], NR_027931.1:n.2967TTA[1], NR_027931.1:n.2967TTA[2], NM_001025233.1:c.*1879TTA[1], NM_001025233.1:c.*1879TTA[2], NR_027932.1:n.1853TTA[1], NR_027932.1:n.1853TTA[2], NR_027933.1:n.1296TTA[1], NR_027933.1:n.1296TTA[2]
15.
rs1465910609 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 12:92430753
(GRCh38)
12:92824529
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92430752:G:
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1465758097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:92421566
(GRCh38)
12:92815342
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92421565:T:G
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_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:
17.
rs1465339669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:92429585
(GRCh38)
12:92823361
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92429584:T:C,NC_000012.12:92429584:T:G
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.92429585T>C, NC_000012.12:g.92429585T>G, NC_000012.11:g.92823361T>C, NC_000012.11:g.92823361T>G, NM_001025233.2:c.*1440T>C, NM_001025233.2:c.*1440T>G, NR_027931.1:n.2528T>C, NR_027931.1:n.2528T>G, NM_001025233.1:c.*1440T>C, NM_001025233.1:c.*1440T>G, NR_027932.1:n.1414T>C, NR_027932.1:n.1414T>G, NR_027933.1:n.857T>C, NR_027933.1:n.857T>G
18.
rs1464327392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:92429838
(GRCh38)
12:92823614
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92429837:T:C
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1460019396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:92429537
(GRCh38)
12:92823313
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92429536:C:T
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_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:
20.
rs1457483006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:92429540
(GRCh38)
12:92823316
(GRCh37)
- Canonical SPDI:
- NC_000012.12:92429539:T:C
- Gene:
- CLLU1-AS1 (Varview), CLLU1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS: