Links from Gene
Items: 1 to 20 of 660
1.
rs1489502863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:21653189
(GRCh38)
22:22007478
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21653188:G:T
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
2.
rs1489024935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21651449
(GRCh38)
22:22005738
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21651448:C:T
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000672/11
(TOMMO)
T=0.001092/2
(Korea1K)
T=0.004107/12
(KOREAN)
C=0.5/2
(SGDP_PRJ)
- HGVS:
3.
rs1486532785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:21653380
(GRCh38)
22:22007669
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21653379:C:G
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1483452151 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 22:21651501
(GRCh38)
22:22005790
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21651500:G:A,NC_000022.11:21651500:G:C,NC_000022.11:21651500:G:T
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
C=0.000684/2
(KOREAN)
- HGVS:
5.
rs1483340109 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 22:21651722
(GRCh38)
22:22006012
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21651722:CCC:CCCC
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1482973343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21652107
(GRCh38)
22:22006396
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21652106:G:A
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1482958948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:21652975
(GRCh38)
22:22007264
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21652974:C:A
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
8.
rs1482350687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:21652133
(GRCh38)
22:22006422
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21652132:A:G
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1482279501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21652943
(GRCh38)
22:22007232
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21652942:C:T
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_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:
10.
rs1481800936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:21653099
(GRCh38)
22:22007388
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21653098:C:A
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
11.
rs1481102796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:21652843
(GRCh38)
22:22007132
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21652842:T:C
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
13.
rs1475305590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:21653621
(GRCh38)
22:22007910
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21653620:C:G
- Gene:
- MIR130B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1473916012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:21653361
(GRCh38)
22:22007650
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21653360:A:G
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1473709531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:21653308
(GRCh38)
22:22007597
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21653307:T:C
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000004/1
(GnomAD_exomes)
C=0.002193/4
(Korea1K)
- HGVS:
17.
rs1472906824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21651800
(GRCh38)
22:22006089
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21651799:G:A
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1472644097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21651888
(GRCh38)
22:22006177
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21651887:G:A
- Gene:
- MIR130B (Varview), MIR301B (Varview), LOC107985532 (Varview)
- Functional Consequence:
- 2KB_upstream_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)
- HGVS: