Links from Gene
Items: 1 to 20 of 566
1.
rs1490634547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:168375014
(GRCh38)
1:168344252
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168375013:C:G
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
2.
rs1488406933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:168375445
(GRCh38)
1:168344683
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168375444:G:A
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000756/14
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000086/12
(GnomAD)
A=0.003125/14
(Estonian)
- HGVS:
3.
rs1487469462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:168375708
(GRCh38)
1:168344946
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168375707:G:T
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1485502983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:168374594
(GRCh38)
1:168343832
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168374593:A:T
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1485454447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:168373627
(GRCh38)
1:168342865
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168373626:A:G
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1482401880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:168374745
(GRCh38)
1:168343983
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168374744:G:A
- Gene:
- MIR557 (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:
7.
rs1481201680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:168375693
(GRCh38)
1:168344931
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168375692:T:C
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
8.
rs1479950902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:168374967
(GRCh38)
1:168344205
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168374966:C:A,NC_000001.11:168374966:C:T
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000035/1
(TOMMO)
T=0.000057/15
(TOPMED)
T=0.000078/11
(GnomAD)
T=0.000684/2
(KOREAN)
- HGVS:
9.
rs1478591461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:168374112
(GRCh38)
1:168343350
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168374111:C:A
- Gene:
- MIR557 (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:
10.
rs1478466421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:168375120
(GRCh38)
1:168344358
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168375119:G:A,NC_000001.11:168375119:G:C
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1477977747 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 1:168375621
(GRCh38)
1:168344859
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168375620:A:
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1476626960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:168375273
(GRCh38)
1:168344511
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168375272:G:A
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
13.
rs1476497652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:168374080
(GRCh38)
1:168343318
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168374079:T:C
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1472716872 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:168375588
(GRCh38)
1:168344826
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168375587:G:A
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- non_coding_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:
16.
rs1470249537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:168374264
(GRCh38)
1:168343502
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168374263:G:A
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1469645852 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:168373705
(GRCh38)
1:168342943
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168373704:G:C
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1466998931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:168376099
(GRCh38)
1:168345337
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168376098:C:A
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- 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:
19.
rs1465969759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:168374856
(GRCh38)
1:168344094
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168374855:G:A
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1464255341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:168374632
(GRCh38)
1:168343870
(GRCh37)
- Canonical SPDI:
- NC_000001.11:168374631:A:G
- Gene:
- MIR557 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: