Links from Gene
Items: 1 to 20 of 689
1.
rs1490346846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:104117836
(GRCh38)
14:104584173
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117835:G:A
- Gene:
- MIR203A (Varview), MIR203B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1488969330 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACTT
[Show Flanks]
- Chromosome:
- 14:104115610
(GRCh38)
14:104581948
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104115610:TACTT:TACTTACTT
- Gene:
- ASPG (Varview), MIR203A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TACTTACTT=0.000142/2
(
ALFA)
TACT=0.000029/4
(GnomAD)
TACT=0.000064/17
(TOPMED)
- HGVS:
3.
rs1488856774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:104117809
(GRCh38)
14:104584146
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117808:C:T
- Gene:
- MIR203A (Varview), MIR203B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000038/10
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
4.
rs1488595723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:104116270
(GRCh38)
14:104582607
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104116269:A:C
- Gene:
- MIR203A (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:
5.
rs1486603046 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGG>-
[Show Flanks]
- Chromosome:
- 14:104116522
(GRCh38)
14:104582859
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104116517:GAGGAGG:GAGG
- Gene:
- MIR203A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
6.
rs1486311218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:104117541
(GRCh38)
14:104583878
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117540:T:G
- Gene:
- MIR203A (Varview), MIR203B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
7.
rs1486017849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:104117285
(GRCh38)
14:104583622
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117284:G:A
- Gene:
- MIR203A (Varview), MIR203B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1484383861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:104116961
(GRCh38)
14:104583298
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104116960:C:G
- Gene:
- MIR203A (Varview), MIR203B (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=0.000004/1
(TOPMED)
- HGVS:
9.
rs1482051593 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 14:104117801
(GRCh38)
14:104584138
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117798:GAGA:GA
- Gene:
- MIR203A (Varview), MIR203B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGA=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
10.
rs1481397057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:104117027
(GRCh38)
14:104583364
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117026:G:A
- Gene:
- MIR203A (Varview), MIR203B (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)
- HGVS:
11.
rs1480317996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:104117621
(GRCh38)
14:104583958
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117620:C:T
- Gene:
- MIR203A (Varview), MIR203B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
12.
rs1479864907 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:104117997
(GRCh38)
14:104584334
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117996:G:A
- Gene:
- MIR203A (Varview), MIR203B (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=0.000008/2
(TOPMED)
- HGVS:
13.
rs1478700545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:104116627
(GRCh38)
14:104582964
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104116626:C:G,NC_000014.9:104116626:C:T
- Gene:
- MIR203A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.00006/1
(TOMMO)
- HGVS:
14.
rs1478673413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:104117324
(GRCh38)
14:104583661
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117323:C:T
- Gene:
- MIR203A (Varview), MIR203B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1477786821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:104117774
(GRCh38)
14:104584111
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117773:A:G
- Gene:
- MIR203A (Varview), MIR203B (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=0.000008/2
(TOPMED)
- HGVS:
16.
rs1477775000 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGCGCGG>-
[Show Flanks]
- Chromosome:
- 14:104116956
(GRCh38)
14:104583293
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104116948:CGCGCGGGCGCGCGG:CGCGCGG
- Gene:
- MIR203A (Varview), MIR203B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGCGCGG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
-=0.000156/1
(1000Genomes)
- HGVS:
17.
rs1477492015 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 14:104117251
(GRCh38)
14:104583589
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117251::TA
- Gene:
- MIR203A (Varview), MIR203B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TA=0./0
(
ALFA)
TA=0.000008/2
(TOPMED)
- HGVS:
18.
rs1471816641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:104115682
(GRCh38)
14:104582019
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104115681:C:T
- Gene:
- ASPG (Varview), MIR203A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1469994804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:104116742
(GRCh38)
14:104583079
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104116741:C:T
- Gene:
- MIR203A (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:
20.
rs1469768911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 14:104117551
(GRCh38)
14:104583888
(GRCh37)
- Canonical SPDI:
- NC_000014.9:104117550:A:C,NC_000014.9:104117550:A:G
- Gene:
- MIR203A (Varview), MIR203B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS: