Links from Nucleotide
Items: 1 to 20 of 455
1.
rs1490999147 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:11365756
(GRCh38)
8:11223265
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11365755:C:G
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
2.
rs1490485086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:11368348
(GRCh38)
8:11225857
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11368347:C:G
- Gene:
- FAM167A-AS1 (Varview), TDH (Varview)
- Functional Consequence:
- 2KB_upstream_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=0.000011/3
(TOPMED)
- HGVS:
3.
rs1487446704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:11358168
(GRCh38)
8:11215677
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11358167:A:G
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1486843320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:11368281
(GRCh38)
8:11225790
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11368280:T:C
- Gene:
- FAM167A-AS1 (Varview), TDH (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
5.
rs1486195212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:11365653
(GRCh38)
8:11223162
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11365652:T:A
- Gene:
- TDH (Varview)
- Functional Consequence:
- 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:
6.
rs1483864358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 8:11361759
(GRCh38)
8:11219268
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11361758:C:G,NC_000008.11:11361758:C:T
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.000036/5
(GnomAD)
G=0.001667/1
(NorthernSweden)
- HGVS:
NC_000008.11:g.11361759C>G, NC_000008.11:g.11361759C>T, NC_000008.10:g.11219268C>G, NC_000008.10:g.11219268C>T, NW_018654717.1:g.1985092G>C, NW_018654717.1:g.1985092G>A, NM_152566.2:c.561C>G, NM_152566.2:c.561C>T, NM_152566.1:c.411C>G, NM_152566.1:c.411C>T, NR_001578.1:n.659C>G, NR_001578.1:n.659C>T
7.
rs1483399393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 8:11361717
(GRCh38)
8:11219226
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11361716:C:G,NC_000008.11:11361716:C:T
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
- HGVS:
NC_000008.11:g.11361717C>G, NC_000008.11:g.11361717C>T, NC_000008.10:g.11219226C>G, NC_000008.10:g.11219226C>T, NW_018654717.1:g.1985134G>C, NW_018654717.1:g.1985134G>A, NM_152566.2:c.519C>G, NM_152566.2:c.519C>T, NM_152566.1:c.369C>G, NM_152566.1:c.369C>T, NR_001578.1:n.617C>G, NR_001578.1:n.617C>T
8.
rs1481439975 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 8:11365630
(GRCh38)
8:11223140
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11365630:GGGGG:GGGGGG
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGG=0.000285/4
(
ALFA)
G=0.000378/53
(GnomAD)
G=0.00045/119
(TOPMED)
- HGVS:
9.
rs1480109357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:11364803
(GRCh38)
8:11222312
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11364802:A:C
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
10.
rs1477020805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:11361458
(GRCh38)
8:11218967
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11361457:G:C
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000045/12
(TOPMED)
C=0.000814/14
(TOMMO)
C=0.003072/9
(KOREAN)
- HGVS:
11.
rs1476516862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:11339663
(GRCh38)
8:11197172
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11339662:G:A,NC_000008.11:11339662:G:T
- Gene:
- MTMR9 (Varview), TDH (Varview)
- Functional Consequence:
- 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
T=0.000035/1
(TOMMO)
A=0.000036/5
(GnomAD)
- HGVS:
13.
rs1475677652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:11364966
(GRCh38)
8:11222475
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11364965:T:A
- Gene:
- TDH (Varview)
- Functional Consequence:
- 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.
rs1475626300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 8:11365753
(GRCh38)
8:11223262
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11365752:G:C,NC_000008.11:11365752:G:T
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000008.11:g.11365753G>C, NC_000008.11:g.11365753G>T, NC_000008.10:g.11223262G>C, NC_000008.10:g.11223262G>T, NW_018654717.1:g.1981098C>G, NW_018654717.1:g.1981098C>A, NM_152566.2:c.*357G>C, NM_152566.2:c.*357G>T, NM_152566.1:c.*357G>C, NM_152566.1:c.*357G>T, NR_001578.1:n.1148G>C, NR_001578.1:n.1148G>T
15.
rs1474796109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:11364766
(GRCh38)
8:11222275
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11364765:C:T
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1473852365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:11356156
(GRCh38)
8:11213665
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11356155:A:C
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000108/2
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
C=0.000446/2
(Estonian)
- HGVS:
17.
rs1471802832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 8:11358156
(GRCh38)
8:11215665
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11358155:G:A,NC_000008.11:11358155:G:C
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000008.11:g.11358156G>A, NC_000008.11:g.11358156G>C, NC_000008.10:g.11215665G>A, NC_000008.10:g.11215665G>C, NW_018654717.1:g.1988695C>T, NW_018654717.1:g.1988695C>G, NM_152566.2:c.193G>A, NM_152566.2:c.193G>C, NM_152566.1:c.193G>A, NM_152566.1:c.193G>C, NR_001578.1:n.291G>A, NR_001578.1:n.291G>C
18.
rs1469889860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 8:11364829
(GRCh38)
8:11222338
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11364828:C:G,NC_000008.11:11364828:C:T
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000257/36
(GnomAD)
- HGVS:
NC_000008.11:g.11364829C>G, NC_000008.11:g.11364829C>T, NC_000008.10:g.11222338C>G, NC_000008.10:g.11222338C>T, NW_018654717.1:g.1982022G>C, NW_018654717.1:g.1982022G>A, NM_152566.2:c.*26C>G, NM_152566.2:c.*26C>T, NM_152566.1:c.*26C>G, NM_152566.1:c.*26C>T, NR_001578.1:n.817C>G, NR_001578.1:n.817C>T
19.
rs1465860598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:11365785
(GRCh38)
8:11223294
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11365784:C:T
- Gene:
- TDH (Varview)
- Functional Consequence:
- 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:
20.
rs1461828503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:11364757
(GRCh38)
8:11222266
(GRCh37)
- Canonical SPDI:
- NC_000008.11:11364756:T:C
- Gene:
- TDH (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: