Links from Nucleotide
Items: 1 to 20 of 3740
1.
rs1491559255 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 13:91352424
(GRCh38)
13:92004678
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91352422:ATA:A
- Gene:
- MIR17HG (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
3.
rs1490920207 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGC>-
[Show Flanks]
- Chromosome:
- 13:91349080
(GRCh38)
13:92001334
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91349076:GGCGGC:GGC
- Gene:
- MIR17 (Varview), MIR18A (Varview), MIR19A (Varview), MIR20A (Varview), MIR17HG (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGCGGC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490881983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 13:91356355
(GRCh38)
13:92008609
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91356354:T:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490868236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:91355517
(GRCh38)
13:92007771
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91355516:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490370533 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 13:91344618
(GRCh38)
13:91996872
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91344617:AA:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490156229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 13:91350050
(GRCh38)
13:92002304
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91350049:T:A,NC_000013.11:91350049:T:C,NC_000013.11:91350049:T:G
- Gene:
- MIR17 (Varview), MIR18A (Varview), MIR19A (Varview), MIR19B1 (Varview), MIR20A (Varview), MIR92A1 (Varview), MIR17HG (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000013.11:g.91350050T>A, NC_000013.11:g.91350050T>C, NC_000013.11:g.91350050T>G, NC_000013.10:g.92002304T>A, NC_000013.10:g.92002304T>C, NC_000013.10:g.92002304T>G, NG_032702.1:g.7231T>A, NG_032702.1:g.7231T>C, NG_032702.1:g.7231T>G, NR_027350.1:n.493T>A, NR_027350.1:n.493T>C, NR_027350.1:n.493T>G, NM_213723.1:c.-139T>A, NM_213723.1:c.-139T>C, NM_213723.1:c.-139T>G
9.
rs1489885100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:91346236
(GRCh38)
13:91998490
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91346235:T:C
- Gene:
- MIR17HG (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489759386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 13:91348599
(GRCh38)
13:92000853
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91348598:G:A,NC_000013.11:91348598:G:T
- Gene:
- MIR17HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1489565167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:91346307
(GRCh38)
13:91998561
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91346306:C:T
- Gene:
- MIR17HG (Varview)
- Functional Consequence:
- 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:
12.
rs1489405832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:91348435
(GRCh38)
13:92000689
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91348434:G:A
- Gene:
- MIR17HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489028569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:91347125
(GRCh38)
13:91999379
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91347124:G:A
- Gene:
- MIR17HG (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1488978315 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:91348485
(GRCh38)
13:92000739
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91348484:G:T
- Gene:
- MIR17HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000022/3
(GnomAD)
- HGVS:
15.
rs1488704758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:91355584
(GRCh38)
13:92007838
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91355583:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1488618107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:91343246
(GRCh38)
13:91995500
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91343245:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
17.
rs1488433061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:91348630
(GRCh38)
13:92000884
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91348629:C:T
- Gene:
- MIR17 (Varview), MIR17HG (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
18.
rs1488302167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:91353841
(GRCh38)
13:92006095
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91353840:A:C
- Gene:
- MIR17HG (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1488198196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 13:91349053
(GRCh38)
13:92001307
(GRCh37)
- Canonical SPDI:
- NC_000013.11:91349052:C:A,NC_000013.11:91349052:C:T
- Gene:
- MIR17 (Varview), MIR18A (Varview), MIR19A (Varview), MIR17HG (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS: