Links from Nucleotide
Items: 1 to 20 of 4268
1.
rs1491329703 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AACCA
[Show Flanks]
- Chromosome:
- 11:65657039
(GRCh38)
11:65424511
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65657039:AAACCAAACCA:AAACCAAACCAAACCA
- Gene:
- RELA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAACCAAACCAAACCA=0./0
(
ALFA)
AAACC=0.000007/1
(GnomAD)
- HGVS:
2.
rs1491139637 has merged into rs796693864 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 11:65657041
(GRCh38)
11:65424512
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65657038:AAAA:AA,NC_000011.10:65657038:AAAA:AAAAAA
- Gene:
- RELA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0.000285/4
(
ALFA)
-=0.00026/36
(GnomAD)
-=0.00031/82
(TOPMED)
- HGVS:
3.
rs1490980238 has merged into rs34431664 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:65661048
(GRCh38)
11:65428519
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65661037:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RELA (Varview), RELA-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.65661048_65661060del, NC_000011.10:g.65661049_65661060del, NC_000011.10:g.65661050_65661060del, NC_000011.10:g.65661051_65661060del, NC_000011.10:g.65661053_65661060del, NC_000011.10:g.65661055_65661060del, NC_000011.10:g.65661056_65661060del, NC_000011.10:g.65661057_65661060del, NC_000011.10:g.65661058_65661060del, NC_000011.10:g.65661059_65661060del, NC_000011.10:g.65661060del, NC_000011.10:g.65661060dup, NC_000011.10:g.65661059_65661060dup, NC_000011.10:g.65661058_65661060dup, NC_000011.10:g.65661056_65661060dup, NC_000011.10:g.65661055_65661060dup, NC_000011.9:g.65428519_65428531del, NC_000011.9:g.65428520_65428531del, NC_000011.9:g.65428521_65428531del, NC_000011.9:g.65428522_65428531del, NC_000011.9:g.65428524_65428531del, NC_000011.9:g.65428526_65428531del, NC_000011.9:g.65428527_65428531del, NC_000011.9:g.65428528_65428531del, NC_000011.9:g.65428529_65428531del, NC_000011.9:g.65428530_65428531del, NC_000011.9:g.65428531del, NC_000011.9:g.65428531dup, NC_000011.9:g.65428530_65428531dup, NC_000011.9:g.65428529_65428531dup, NC_000011.9:g.65428527_65428531dup, NC_000011.9:g.65428526_65428531dup, NG_029971.1:g.6923_6935del, NG_029971.1:g.6924_6935del, NG_029971.1:g.6925_6935del, NG_029971.1:g.6926_6935del, NG_029971.1:g.6928_6935del, NG_029971.1:g.6930_6935del, NG_029971.1:g.6931_6935del, NG_029971.1:g.6932_6935del, NG_029971.1:g.6933_6935del, NG_029971.1:g.6934_6935del, NG_029971.1:g.6935del, NG_029971.1:g.6935dup, NG_029971.1:g.6934_6935dup, NG_029971.1:g.6933_6935dup, NG_029971.1:g.6931_6935dup, NG_029971.1:g.6930_6935dup
4.
rs1490835197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:65661406
(GRCh38)
11:65428877
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65661405:T:G
- Gene:
- RELA (Varview), RELA-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490789752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65663627
(GRCh38)
11:65431098
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65663626:C:T
- Gene:
- RELA (Varview), RELA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490614932 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:65660737
(GRCh38)
11:65428208
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65660736:T:G
- Gene:
- RELA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
7.
rs1490573963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:65654703
(GRCh38)
11:65422174
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65654702:T:C
- Gene:
- RELA (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000006/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.65654703T>C, NC_000011.9:g.65422174T>C, NG_029971.1:g.13270A>G, NM_021975.4:c.1331A>G, NM_021975.3:c.1331A>G, NM_001145138.2:c.1322A>G, NM_001145138.1:c.1322A>G, NM_001243984.2:c.1124A>G, NM_001243984.1:c.1124A>G, NM_001404662.1:c.1238A>G, NM_001404663.1:c.1238A>G, NM_001404657.1:c.1364A>G, NM_001404658.1:c.1304A>G, NM_001404661.1:c.950A>G, NM_001404659.1:c.1118A>G, NM_001404660.1:c.1013A>G, XM_011545206.3:c.1118A>G, XM_011545207.3:c.1013A>G, XM_047427392.1:c.1238A>G, NP_068810.3:p.Gln444Arg, NP_001138610.1:p.Gln441Arg, NP_001230913.1:p.Gln375Arg, XP_011543508.1:p.Gln373Arg, XP_011543509.1:p.Gln338Arg, XP_047283348.1:p.Gln413Arg
8.
rs1490490307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:65661366
(GRCh38)
11:65428837
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65661365:T:A
- Gene:
- RELA (Varview), RELA-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490079231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:65666880
(GRCh38)
11:65434351
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65666879:A:C
- Gene:
- RELA-DT (Varview)
- Functional Consequence:
- intron_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:
10.
rs1490034315 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:65654155
(GRCh38)
11:65421627
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65654155:CCCCCC:CCCCCCC
- Gene:
- RELA (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCCCCC=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.65654161dup, NC_000011.9:g.65421632dup, NG_029971.1:g.13817dup, NM_021975.4:c.*222dup, NM_021975.3:c.*222dup, NM_001145138.2:c.*222dup, NM_001145138.1:c.*222dup, NM_001243984.2:c.*222dup, NM_001243984.1:c.*222dup, NM_001243985.2:c.*222dup, NM_001243985.1:c.*222dup, NM_001404662.1:c.*222dup, NM_001404663.1:c.*222dup, NM_001404657.1:c.*222dup, NM_001404658.1:c.*222dup, NM_001404661.1:c.*222dup, NM_001404659.1:c.*222dup, NM_001404660.1:c.*222dup, XM_011545206.3:c.*222dup, XM_011545207.3:c.*222dup, XM_047427392.1:c.*222dup
12.
rs1489633111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65662235
(GRCh38)
11:65429706
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65662234:C:T
- Gene:
- RELA (Varview), RELA-DT (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
13.
rs1489486060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:65651967
(GRCh38)
11:65419438
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65651966:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1489298276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:65663490
(GRCh38)
11:65430961
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65663489:C:T
- Gene:
- RELA (Varview), RELA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_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:
16.
rs1489001001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:65666092
(GRCh38)
11:65433563
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65666091:G:C
- Gene:
- RELA-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS:
17.
rs1488869048 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:65667616
(GRCh38)
11:65435088
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65667616::C
- Gene:
- RELA-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/2
(GnomAD)
- HGVS:
18.
rs1488839334 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:65666518
(GRCh38)
11:65433989
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65666517:G:A
- Gene:
- RELA-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
19.
rs1488536027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:65666921
(GRCh38)
11:65434392
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65666920:T:A
- Gene:
- RELA-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
20.
rs1488511480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:65665477
(GRCh38)
11:65432948
(GRCh37)
- Canonical SPDI:
- NC_000011.10:65665476:T:C
- Gene:
- RELA-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000034/9
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS: