Links from Gene
Items: 1 to 20 of 545
1.
rs1490674518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:147346603
(GRCh38)
4:148267755
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147346602:A:G
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
2.
rs1490648374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:147345654
(GRCh38)
4:148266806
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147345653:G:A
- Gene:
- MIR548G (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:
3.
rs1490320624 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:147344500
(GRCh38)
4:148265652
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147344499:A:G
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
4.
rs1488984900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:147344339
(GRCh38)
4:148265491
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147344338:A:G
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_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:
5.
rs1488650669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:147345219
(GRCh38)
4:148266371
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147345218:T:C
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1488350446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:147346369
(GRCh38)
4:148267521
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147346368:T:C
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1486847386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:147345230
(GRCh38)
4:148266382
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147345229:T:C
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
8.
rs1486204487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:147346365
(GRCh38)
4:148267517
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147346364:A:C
- Gene:
- MIR548G (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=0.000008/2
(TOPMED)
- HGVS:
10.
rs1482622765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:147346159
(GRCh38)
4:148267311
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147346158:T:C
- Gene:
- MIR548G (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:
11.
rs1481835556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:147346495
(GRCh38)
4:148267647
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147346494:G:A
- Gene:
- MIR548G (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:
12.
rs1480983137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:147346707
(GRCh38)
4:148267859
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147346706:T:C
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- upstream_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:
13.
rs1479398990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:147346339
(GRCh38)
4:148267491
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147346338:T:C
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1479306315 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:147345222
(GRCh38)
4:148266374
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147345221:A:G
- Gene:
- MIR548G (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:
15.
rs1474751973 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 4:147345987
(GRCh38)
4:148267139
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147345986:C:A,NC_000004.12:147345986:C:T
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1470462971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:147345861
(GRCh38)
4:148267013
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147345860:G:A
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1464622889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:147344596
(GRCh38)
4:148265748
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147344595:T:G
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.00004/1
(GnomAD_exomes)
- HGVS:
18.
rs1463446072 has merged into rs61128539 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 4:147346485
(GRCh38)
4:148267637
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:147346464:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
GTGTGTGTGTGTGT=0./0
(GENOME_DK)
- HGVS:
NC_000004.12:g.147346465GT[10], NC_000004.12:g.147346465GT[11], NC_000004.12:g.147346465GT[12], NC_000004.12:g.147346465GT[13], NC_000004.12:g.147346465GT[14], NC_000004.12:g.147346465GT[15], NC_000004.12:g.147346465GT[16], NC_000004.12:g.147346465GT[17], NC_000004.12:g.147346465GT[18], NC_000004.12:g.147346465GT[19], NC_000004.12:g.147346465GT[20], NC_000004.12:g.147346465GT[21], NC_000004.12:g.147346465GT[22], NC_000004.12:g.147346465GT[23], NC_000004.12:g.147346465GT[25], NC_000004.12:g.147346465GT[26], NC_000004.12:g.147346465GT[27], NC_000004.12:g.147346465GT[28], NC_000004.12:g.147346465GT[30], NC_000004.11:g.148267617GT[10], NC_000004.11:g.148267617GT[11], NC_000004.11:g.148267617GT[12], NC_000004.11:g.148267617GT[13], NC_000004.11:g.148267617GT[14], NC_000004.11:g.148267617GT[15], NC_000004.11:g.148267617GT[16], NC_000004.11:g.148267617GT[17], NC_000004.11:g.148267617GT[18], NC_000004.11:g.148267617GT[19], NC_000004.11:g.148267617GT[20], NC_000004.11:g.148267617GT[21], NC_000004.11:g.148267617GT[22], NC_000004.11:g.148267617GT[23], NC_000004.11:g.148267617GT[25], NC_000004.11:g.148267617GT[26], NC_000004.11:g.148267617GT[27], NC_000004.11:g.148267617GT[28], NC_000004.11:g.148267617GT[30]
19.
rs1463282422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:147345514
(GRCh38)
4:148266666
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147345513:A:G
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
20.
rs1459999647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:147344211
(GRCh38)
4:148265363
(GRCh37)
- Canonical SPDI:
- NC_000004.12:147344210:A:C
- Gene:
- MIR548G (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: