Links from Nucleotide
Items: 1 to 20 of 3084
2.
rs1491441124 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CC,CCTCC
[Show Flanks]
- Chromosome:
- 8:23708570
(GRCh38)
8:23566084
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23708570::CC,NC_000008.11:23708570::CCTCC
- Gene:
- NKX2-6 (Varview), LOC107986930 (Varview), LOC124901910 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCTCC=0./0
(
ALFA)
CC=0.01941/321
(TOMMO)
CC=0.08412/7707
(GnomAD)
CC=0.10764/62
(NorthernSweden)
- HGVS:
3.
rs1491206436 has merged into rs71210639 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 8:23710284
(GRCh38)
8:23567797
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:23710263:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- LOC107986930 (Varview), LOC124901910 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.23710264GT[10], NC_000008.11:g.23710264GT[12], NC_000008.11:g.23710264GT[13], NC_000008.11:g.23710264GT[14], NC_000008.11:g.23710264GT[15], NC_000008.11:g.23710264GT[16], NC_000008.11:g.23710264GT[17], NC_000008.11:g.23710264GT[18], NC_000008.11:g.23710264GT[19], NC_000008.11:g.23710264GT[20], NC_000008.11:g.23710264GT[21], NC_000008.11:g.23710264GT[22], NC_000008.11:g.23710264GT[24], NC_000008.11:g.23710264GT[25], NC_000008.11:g.23710264GT[26], NC_000008.11:g.23710264GT[27], NC_000008.11:g.23710264GT[28], NC_000008.11:g.23710264GT[29], NC_000008.11:g.23710264GT[30], NC_000008.10:g.23567777GT[10], NC_000008.10:g.23567777GT[12], NC_000008.10:g.23567777GT[13], NC_000008.10:g.23567777GT[14], NC_000008.10:g.23567777GT[15], NC_000008.10:g.23567777GT[16], NC_000008.10:g.23567777GT[17], NC_000008.10:g.23567777GT[18], NC_000008.10:g.23567777GT[19], NC_000008.10:g.23567777GT[20], NC_000008.10:g.23567777GT[21], NC_000008.10:g.23567777GT[22], NC_000008.10:g.23567777GT[24], NC_000008.10:g.23567777GT[25], NC_000008.10:g.23567777GT[26], NC_000008.10:g.23567777GT[27], NC_000008.10:g.23567777GT[28], NC_000008.10:g.23567777GT[29], NC_000008.10:g.23567777GT[30], NG_030636.1:g.1290AC[10], NG_030636.1:g.1290AC[12], NG_030636.1:g.1290AC[13], NG_030636.1:g.1290AC[14], NG_030636.1:g.1290AC[15], NG_030636.1:g.1290AC[16], NG_030636.1:g.1290AC[17], NG_030636.1:g.1290AC[18], NG_030636.1:g.1290AC[19], NG_030636.1:g.1290AC[20], NG_030636.1:g.1290AC[21], NG_030636.1:g.1290AC[22], NG_030636.1:g.1290AC[24], NG_030636.1:g.1290AC[25], NG_030636.1:g.1290AC[26], NG_030636.1:g.1290AC[27], NG_030636.1:g.1290AC[28], NG_030636.1:g.1290AC[29], NG_030636.1:g.1290AC[30], XR_007060859.1:n.1452GT[10], XR_007060859.1:n.1452GT[12], XR_007060859.1:n.1452GT[13], XR_007060859.1:n.1452GT[14], XR_007060859.1:n.1452GT[15], XR_007060859.1:n.1452GT[16], XR_007060859.1:n.1452GT[17], XR_007060859.1:n.1452GT[18], XR_007060859.1:n.1452GT[19], XR_007060859.1:n.1452GT[20], XR_007060859.1:n.1452GT[21], XR_007060859.1:n.1452GT[22], XR_007060859.1:n.1452GT[24], XR_007060859.1:n.1452GT[25], XR_007060859.1:n.1452GT[26], XR_007060859.1:n.1452GT[27], XR_007060859.1:n.1452GT[28], XR_007060859.1:n.1452GT[29], XR_007060859.1:n.1452GT[30]
4.
rs1491148686 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 8:23710264
(GRCh38)
8:23567778
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23710264:T:TT
- Gene:
- LOC107986930 (Varview), LOC124901910 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.00014/2
(TOMMO)
T=0.00472/39
(GnomAD)
- HGVS:
5.
rs1490886152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:23700809
(GRCh38)
8:23558322
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23700808:A:G
- Gene:
- LOC107986930 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490871163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:23701844
(GRCh38)
8:23559357
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23701843:G:A
- Gene:
- NKX2-6 (Varview), LOC107986930 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490608422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:23701173
(GRCh38)
8:23558686
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23701172:A:C
- Gene:
- LOC107986930 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490028535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:23703187
(GRCh38)
8:23560700
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23703186:G:A,NC_000008.11:23703186:G:T
- Gene:
- NKX2-6 (Varview), LOC107986930 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1489970690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:23702763
(GRCh38)
8:23560276
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23702762:C:T
- Gene:
- NKX2-6 (Varview), LOC107986930 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000006/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489880968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:23702717
(GRCh38)
8:23560230
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23702716:C:A,NC_000008.11:23702716:C:T
- Gene:
- NKX2-6 (Varview), LOC107986930 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.23702717C>A, NC_000008.11:g.23702717C>T, NC_000008.10:g.23560230C>A, NC_000008.10:g.23560230C>T, NG_030636.1:g.8882G>T, NG_030636.1:g.8882G>A, NM_001136271.3:c.640G>T, NM_001136271.3:c.640G>A, NM_001136271.2:c.640G>T, NM_001136271.2:c.640G>A, NP_001129743.2:p.Val214Leu, NP_001129743.2:p.Val214Met
12.
rs1489449516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:23703020
(GRCh38)
8:23560533
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23703019:C:A,NC_000008.11:23703019:C:T
- Gene:
- NKX2-6 (Varview), LOC107986930 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_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_exomes)
- HGVS:
NC_000008.11:g.23703020C>A, NC_000008.11:g.23703020C>T, NC_000008.10:g.23560533C>A, NC_000008.10:g.23560533C>T, NG_030636.1:g.8579G>T, NG_030636.1:g.8579G>A, NM_001136271.3:c.337G>T, NM_001136271.3:c.337G>A, NM_001136271.2:c.337G>T, NM_001136271.2:c.337G>A, NP_001129743.2:p.Gly113Cys, NP_001129743.2:p.Gly113Ser
13.
rs1489444394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:23706372
(GRCh38)
8:23563885
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23706371:G:A
- Gene:
- NKX2-6 (Varview), LOC107986930 (Varview), LOC124901910 (Varview)
- Functional Consequence:
- missense_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000013/2
(GnomAD_exomes)
- HGVS:
14.
rs1489426061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 8:23706790
(GRCh38)
8:23564303
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23706789:C:A,NC_000008.11:23706789:C:G
- Gene:
- NKX2-6 (Varview), LOC107986930 (Varview), LOC124901910 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488900347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:23703779
(GRCh38)
8:23561292
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23703778:G:A
- Gene:
- NKX2-6 (Varview), LOC107986930 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1488320485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:23704963
(GRCh38)
8:23562476
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23704962:C:T
- Gene:
- NKX2-6 (Varview), LOC107986930 (Varview), LOC124901910 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
19.
rs1488095555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:23710424
(GRCh38)
8:23567937
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23710423:T:C
- Gene:
- LOC107986930 (Varview), LOC124901910 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000389/7
(TOMMO)
- HGVS:
20.
rs1487730446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:23710017
(GRCh38)
8:23567530
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23710016:T:C
- Gene:
- LOC107986930 (Varview), LOC124901910 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
- HGVS: