Links from Gene
Items: 1 to 20 of 805
1.
rs1490912535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:53716637
(GRCh38)
19:54219891
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53716636:A:G
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
2.
rs1489743764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:53717029
(GRCh38)
19:54220283
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53717028:T:C
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1488023493 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:53715268
(GRCh38)
19:54218522
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53715267:A:G
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1487933922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:53716315
(GRCh38)
19:54219569
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53716314:C:T
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000342/1
(KOREAN)
- HGVS:
5.
rs1487735706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:53716575
(GRCh38)
19:54219829
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53716574:G:C
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1487680403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:53715588
(GRCh38)
19:54218842
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53715587:G:A
- Gene:
- MIR521-2 (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:
10.
rs1483433006 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCCAAAGGGAAGA>-
[Show Flanks]
- Chromosome:
- 19:53716607
(GRCh38)
19:54219861
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53716604:GACTCTCCAAAGGGAAGA:GA
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1480694450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:53715920
(GRCh38)
19:54219174
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53715919:C:T
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000546/1
(Korea1K)
- HGVS:
13.
rs1479640587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:53716519
(GRCh38)
19:54219773
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53716518:A:G
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1478649701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:53716735
(GRCh38)
19:54219989
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53716734:A:T
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000057/15
(TOPMED)
T=0.000064/9
(GnomAD)
- HGVS:
17.
rs1475480524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:53715013
(GRCh38)
19:54218267
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53715012:T:A
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1474471051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 19:53716018
(GRCh38)
19:54219272
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53716017:T:C,NC_000019.10:53716017:T:G
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
19.
rs1474152171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:53714884
(GRCh38)
19:54218138
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53714883:C:G,NC_000019.10:53714883:C:T
- Gene:
- MIR521-2 (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:
20.
rs1473190458 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAA>-
[Show Flanks]
- Chromosome:
- 19:53716646
(GRCh38)
19:54219900
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53716643:AAGAA:AA
- Gene:
- MIR521-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS: