Links from Nucleotide
Items: 1 to 20 of 102
1.
rs1487879593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 13:30541681
(GRCh38)
13:31115818
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541680:T:C,NC_000013.11:30541680:T:G
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
2.
rs1480065948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:30541469
(GRCh38)
13:31115606
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541468:A:C
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1469146565 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:30541593
(GRCh38)
13:31115730
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541592:T:C
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1458601248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:30541837
(GRCh38)
13:31115974
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541836:C:T
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1445825678 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:30541739
(GRCh38)
13:31115876
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541738:C:T
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000162/3
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.00006/1
(TOMMO)
T=0.00067/3
(Estonian)
- HGVS:
7.
rs1442715706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:30541881
(GRCh38)
13:31116018
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541880:T:C
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1442388574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:30541904
(GRCh38)
13:31116041
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541903:T:C
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
- HGVS:
9.
rs1437725438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:30541818
(GRCh38)
13:31115955
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541817:A:G
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1432048968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:30541473
(GRCh38)
13:31115610
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541472:T:C
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000015/2
(GnomAD)
- HGVS:
11.
rs1427056390 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 13:30541595
(GRCh38)
13:31115733
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541595:CCCC:CCCCC
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1424764368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 13:30541512
(GRCh38)
13:31115649
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541511:A:G,NC_000013.11:30541511:A:T
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000223/1
(Estonian)
- HGVS:
13.
rs1418801951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:30541768
(GRCh38)
13:31115905
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541767:A:G
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1410455331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:30541764
(GRCh38)
13:31115901
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541763:C:G
- Gene:
- HMGB1 (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)
- HGVS:
15.
rs1403643301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:30541740
(GRCh38)
13:31115877
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541739:G:A
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.00463/1
(Vietnamese)
- HGVS:
16.
rs1403262868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:30541571
(GRCh38)
13:31115708
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541570:A:C
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1400643735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:30541547
(GRCh38)
13:31115684
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541546:G:C
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1398112806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:30541869
(GRCh38)
13:31116006
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541868:C:T
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1387368147 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:30541599
(GRCh38)
13:31115736
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541598:C:T
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1385424052 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:30541780
(GRCh38)
13:31115917
(GRCh37)
- Canonical SPDI:
- NC_000013.11:30541779:G:A
- Gene:
- HMGB1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS: