Links from Gene
Items: 1 to 20 of 742
1.
rs1490138057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:64378645
(GRCh38)
8:65291202
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64378644:G:A
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1489107671 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:64378250
(GRCh38)
8:65290807
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64378249:C:T
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
4.
rs1489048588 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:64377292
(GRCh38)
8:65289849
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64377291:G:A
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488300519 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 8:64377350
(GRCh38)
8:65289908
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64377350:CC:CCC
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1485779699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:64378821
(GRCh38)
8:65291378
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64378820:C:T
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
8.
rs1483375115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:64377566
(GRCh38)
8:65290123
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64377565:C:T
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000039/5
(GnomAD_exomes)
- HGVS:
9.
rs1482293971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:64377892
(GRCh38)
8:65290449
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64377891:G:A
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1481617455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:64379687
(GRCh38)
8:65292244
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64379686:A:G
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1481357462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:64378560
(GRCh38)
8:65291117
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64378559:A:C
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1480084965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:64378743
(GRCh38)
8:65291300
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64378742:A:C
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
13.
rs1479860418 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:64378083
(GRCh38)
8:65290640
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64378082:A:G
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1479097043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:64379237
(GRCh38)
8:65291794
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64379236:G:T
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1478463285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:64377705
(GRCh38)
8:65290262
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64377704:G:A
- Gene:
- MIR124-2 (Varview), MIR124-2HG (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=0.00003/8
(TOPMED)
- HGVS:
17.
rs1478126470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 8:64378087
(GRCh38)
8:65290644
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64378086:C:A
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1478026156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 8:64378953
(GRCh38)
8:65291510
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64378952:A:G,NC_000008.11:64378952:A:T
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
19.
rs1477657775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:64377912
(GRCh38)
8:65290469
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64377911:G:A
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1474695074 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:64377802
(GRCh38)
8:65290359
(GRCh37)
- Canonical SPDI:
- NC_000008.11:64377801:T:G
- Gene:
- MIR124-2 (Varview), MIR124-2HG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: