Links from Gene
Items: 1 to 20 of 951
1.
rs1490747948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:9555845
(GRCh38)
4:9557466
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9555844:C:T
- Gene:
- MIR548I2 (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:
3.
rs1489853295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:9557433
(GRCh38)
4:9559054
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9557432:A:T
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
5.
rs1487918352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:9557358
(GRCh38)
4:9558979
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9557357:G:C
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1487845232 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:9557765
(GRCh38)
4:9559386
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9557764:C:T
- Gene:
- MIR548I2 (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=0.000011/3
(TOPMED)
- HGVS:
7.
rs1487629233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:9558200
(GRCh38)
4:9559821
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9558199:A:G
- Gene:
- MIR548I2 (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:
8.
rs1486989262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:9556602
(GRCh38)
4:9558223
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9556601:T:A
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1486709186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 4:9555775
(GRCh38)
4:9557396
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9555774:A:C,NC_000004.12:9555774:A:G
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1485883993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:9558249
(GRCh38)
4:9559870
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9558248:A:G
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1484742958 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:9556832
(GRCh38)
4:9558453
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9556831:G:A,NC_000004.12:9556831:G:T
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00055/1
(Korea1K)
- HGVS:
13.
rs1482910915 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 4:9557517
(GRCh38)
4:9559138
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9557516:C:A,NC_000004.12:9557516:C:G
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1481201751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:9555895
(GRCh38)
4:9557516
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9555894:G:A
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1479346148 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 4:9557240
(GRCh38)
4:9558862
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9557240:C:CC
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000034/9
(TOPMED)
C=0.000156/1
(1000Genomes)
- HGVS:
17.
rs1478801812 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:9555973
(GRCh38)
4:9557594
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9555972:A:G
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
18.
rs1478731324 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 4:9557127
(GRCh38)
4:9558748
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9557124:AGAG:AG
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
19.
rs1477029863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:9558060
(GRCh38)
4:9559681
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9558059:T:C
- Gene:
- MIR548I2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
20.
rs1476756606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:9558306
(GRCh38)
4:9559927
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9558305:T:A
- Gene:
- MIR548I2 (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: