Links from Gene
Items: 1 to 20 of 564
1.
rs1488639696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:128150640
(GRCh38)
8:129162886
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128150639:T:C
- Gene:
- MIR1208 (Varview), LOC124902020 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1488286310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:128149923
(GRCh38)
8:129162169
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128149922:G:A
- Gene:
- MIR1208 (Varview), LOC124902020 (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:
3.
rs1487954979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:128148384
(GRCh38)
8:129160630
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128148383:A:G
- Gene:
- MIR1208 (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=0.000014/2
(GnomAD)
- HGVS:
4.
rs1487790181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:128149995
(GRCh38)
8:129162241
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128149994:G:A
- Gene:
- MIR1208 (Varview), LOC124902020 (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:
5.
rs1487077998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:128148714
(GRCh38)
8:129160960
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128148713:T:C
- Gene:
- MIR1208 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1486516135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:128150089
(GRCh38)
8:129162335
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128150088:G:A
- Gene:
- MIR1208 (Varview), LOC124902020 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1485449391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:128150209
(GRCh38)
8:129162455
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128150208:A:G
- Gene:
- MIR1208 (Varview), LOC124902020 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1484484898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:128150688
(GRCh38)
8:129162934
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128150687:G:C
- Gene:
- MIR1208 (Varview), LOC124902020 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1481579041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:128148412
(GRCh38)
8:129160658
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128148411:C:G
- Gene:
- MIR1208 (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:
10.
rs1480596288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:128148958
(GRCh38)
8:129161204
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128148957:C:T
- Gene:
- MIR1208 (Varview), LOC124902020 (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:
11.
rs1480153939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:128150565
(GRCh38)
8:129162811
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128150564:T:C
- Gene:
- MIR1208 (Varview), LOC124902020 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1478629483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:128149986
(GRCh38)
8:129162232
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128149985:C:T
- Gene:
- MIR1208 (Varview), LOC124902020 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
13.
rs1476763019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:128150684
(GRCh38)
8:129162930
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128150683:T:C
- Gene:
- MIR1208 (Varview), LOC124902020 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1476113540 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:128148485
(GRCh38)
8:129160731
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128148484:A:G
- Gene:
- MIR1208 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1475052219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:128150301
(GRCh38)
8:129162547
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128150300:G:A
- Gene:
- MIR1208 (Varview), LOC124902020 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,upstream_transcript_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:
17.
rs1472693951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:128149381
(GRCh38)
8:129161627
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128149380:G:T
- Gene:
- MIR1208 (Varview), LOC124902020 (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:
18.
rs1471168134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:128148578
(GRCh38)
8:129160824
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128148577:C:T
- Gene:
- MIR1208 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1467830143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:128149751
(GRCh38)
8:129161997
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128149750:G:A
- Gene:
- MIR1208 (Varview), LOC124902020 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1466657067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:128149427
(GRCh38)
8:129161673
(GRCh37)
- Canonical SPDI:
- NC_000008.11:128149426:A:G
- Gene:
- MIR1208 (Varview), LOC124902020 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000034/9
(TOPMED)
G=0.000342/1
(KOREAN)
- HGVS: