Links from Gene
Items: 1 to 20 of 551
1.
rs1489926187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:198858648
(GRCh38)
1:198827777
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858647:A:C
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000057/8
(GnomAD)
- HGVS:
2.
rs1489228667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:198859954
(GRCh38)
1:198829083
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198859953:A:G
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000034/9
(TOPMED)
G=0.000064/9
(GnomAD)
- HGVS:
3.
rs1489191908 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:198858524
(GRCh38)
1:198827653
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858523:TTT:TT
- Gene:
- MIR181B1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
4.
rs1488744035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:198859008
(GRCh38)
1:198828137
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198859007:C:T
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1487519557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:198859386
(GRCh38)
1:198828515
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198859385:G:A
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
6.
rs1486860772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:198860388
(GRCh38)
1:198829517
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198860387:T:C
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1486672764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:198859155
(GRCh38)
1:198828284
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198859154:A:T
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000028/1
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
8.
rs1485970837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:198859523
(GRCh38)
1:198828652
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198859522:C:T
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000042/11
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
9.
rs1485882015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:198859885
(GRCh38)
1:198829014
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198859884:G:A,NC_000001.11:198859884:G:T
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1483185236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:198859682
(GRCh38)
1:198828811
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198859681:A:G
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
11.
rs1482775835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:198858931
(GRCh38)
1:198828060
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858930:C:T
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000047/1
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
- HGVS:
12.
rs1481447148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:198859018
(GRCh38)
1:198828147
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198859017:C:T
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1479595513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:198859674
(GRCh38)
1:198828803
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198859673:T:G
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1479556741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:198858408
(GRCh38)
1:198827537
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858407:C:G
- Gene:
- MIR181B1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1476507537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:198860514
(GRCh38)
1:198829643
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198860513:A:G
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000042/11
(TOPMED)
- HGVS:
16.
rs1475530470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:198860045
(GRCh38)
1:198829174
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198860044:T:G
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1470563195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:198859297
(GRCh38)
1:198828426
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198859296:C:A
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1469426076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:198859544
(GRCh38)
1:198828673
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198859543:A:G
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1467061730 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAAAA
[Show Flanks]
- Chromosome:
- 1:198858685
(GRCh38)
1:198827815
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858685:A:ACAAAA
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACAAAA=0./0
(
ALFA)
ACAAA=0.000004/1
(TOPMED)
- HGVS:
20.
rs1466128285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:198860701
(GRCh38)
1:198829830
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198860700:G:C
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: