Links from Gene
Items: 1 to 20 of 531
1.
rs1489514107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:74704035
(GRCh38)
8:75616270
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74704034:C:A,NC_000008.11:74704034:C:T
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00007/1
(TOMMO)
- HGVS:
2.
rs1486161779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 8:74704997
(GRCh38)
8:75617232
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74704996:A:C,NC_000008.11:74704996:A:G
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
G=0.000008/2
(TOPMED)
C=0.000223/1
(Estonian)
- HGVS:
3.
rs1484826499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:74705926
(GRCh38)
8:75618161
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74705925:C:G
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1483720041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:74703709
(GRCh38)
8:75615944
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74703708:G:A
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000009/1
(GnomAD_exomes)
- HGVS:
5.
rs1482796254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:74706093
(GRCh38)
8:75618328
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74706092:T:C
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1482774607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:74705229
(GRCh38)
8:75617464
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74705228:T:A
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1482132443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:74703768
(GRCh38)
8:75616003
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74703767:C:T
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1481892597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 8:74704405
(GRCh38)
8:75616640
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74704404:C:G,NC_000008.11:74704404:C:T
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
9.
rs1481815227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:74705564
(GRCh38)
8:75617799
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74705563:G:A
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
10.
rs1477698559 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 8:74704040
(GRCh38)
8:75616275
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74704037:TTTT:TT
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
11.
rs1477440693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:74705806
(GRCh38)
8:75618041
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74705805:C:T
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1477388252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:74704644
(GRCh38)
8:75616879
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74704643:T:G
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
13.
rs1476299443 has merged into rs1379396774 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 8:74705898
(GRCh38)
8:75618133
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74705897:AAAAAAAA:AAAAAAA,NC_000008.11:74705897:AAAAAAAA:AAAAAAAAA
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0.000122/2
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000312/2
(1000Genomes)
-=0.000446/2
(Estonian)
- HGVS:
14.
rs1475583021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:74704619
(GRCh38)
8:75616854
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74704618:G:A
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1472523014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:74705023
(GRCh38)
8:75617258
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74705022:G:A
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
16.
rs1472401331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:74706210
(GRCh38)
8:75618445
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74706209:G:A
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
18.
rs1468783220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:74705704
(GRCh38)
8:75617939
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74705703:A:G
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1468308211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:74705662
(GRCh38)
8:75617897
(GRCh37)
- Canonical SPDI:
- NC_000008.11:74705661:G:A
- Gene:
- MIR2052HG (Varview), MIR2052 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: