Links from Gene
Items: 1 to 20 of 629
1.
rs1489224346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:101052914
(GRCh38)
14:101519251
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101052913:G:A
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR487A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_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:
2.
rs1487717778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:101054511
(GRCh38)
14:101520848
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101054510:C:A
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000223/1
(Estonian)
- HGVS:
4.
rs1485956260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:101053802
(GRCh38)
14:101520139
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101053801:G:A
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1485885171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:101052773
(GRCh38)
14:101519110
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101052772:A:G
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR487A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
6.
rs1483628460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 14:101055068
(GRCh38)
14:101521405
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101055067:A:C,NC_000014.9:101055067:A:T
- Gene:
- MIR134 (Varview), MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1479140883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 14:101053366
(GRCh38)
14:101519703
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101053365:T:A,NC_000014.9:101053365:T:C
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
C=0.000546/1
(Korea1K)
- HGVS:
9.
rs1478941695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:101054402
(GRCh38)
14:101520739
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101054401:C:A
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000013/3
(GnomAD_exomes)
- HGVS:
11.
rs1477981843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:101053591
(GRCh38)
14:101519928
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101053590:G:T
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1477608034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:101052955
(GRCh38)
14:101519292
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101052954:T:C
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR487A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
13.
rs1477049030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 14:101053489
(GRCh38)
14:101519826
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101053488:C:A,NC_000014.9:101053488:C:G
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1475187738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:101053668
(GRCh38)
14:101520005
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101053667:T:G
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1474766405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:101054691
(GRCh38)
14:101521028
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101054690:G:A
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000028/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
16.
rs1472319979 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 14:101053786
(GRCh38)
14:101520123
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101053785:A:
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
17.
rs1470906253 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:101054759
(GRCh38)
14:101521096
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101054758:C:G
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR323B (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(GnomAD_exomes)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
18.
rs1470206358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:101053351
(GRCh38)
14:101519688
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101053350:G:A
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1468991743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:101053846
(GRCh38)
14:101520183
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101053845:G:A,NC_000014.9:101053845:G:C
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
C=0.000106/2
(TOMMO)
C=0.000342/1
(KOREAN)
A=0.000446/2
(Estonian)
- HGVS:
20.
rs1468977589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:101053595
(GRCh38)
14:101519932
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101053594:C:T
- Gene:
- MIR134 (Varview), MIR382 (Varview), MIR485 (Varview), MIR668 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: