Links from Gene
Items: 1 to 20 of 547
1.
rs1489342303 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAGAGGGCAGTGCTTAATAG>-
[Show Flanks]
- Chromosome:
- 12:97562928
(GRCh38)
12:97956706
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97562925:AGCAGAGGGCAGTGCTTAATAG:AG
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1488035375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 12:97562892
(GRCh38)
12:97956670
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97562891:A:G,NC_000012.12:97562891:A:T
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1486325361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:97563210
(GRCh38)
12:97956988
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97563209:G:A
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000029/4
(GnomAD)
A=0.000342/1
(KOREAN)
- HGVS:
4.
rs1486247699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:97563041
(GRCh38)
12:97956819
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97563040:T:A
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,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:
5.
rs1485070226 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:97562342
(GRCh38)
12:97956120
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97562341:AAA:AA
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
6.
rs1484960706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:97564005
(GRCh38)
12:97957783
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97564004:C:T
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1484929202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:97562780
(GRCh38)
12:97956558
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97562779:A:G
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,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:
8.
rs1483893107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:97563770
(GRCh38)
12:97957548
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97563769:G:A
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000006/1
(GnomAD_exomes)
- HGVS:
9.
rs1483808578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:97564174
(GRCh38)
12:97957952
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97564173:T:C
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1478841494 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:97563023
(GRCh38)
12:97956801
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97563022:A:
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1477859291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:97563547
(GRCh38)
12:97957325
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97563546:T:A
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1477619360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:97562520
(GRCh38)
12:97956298
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97562519:G:T
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1474605535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:97563659
(GRCh38)
12:97957437
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97563658:A:G
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1474575071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:97562462
(GRCh38)
12:97956240
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97562461:G:T
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1473178818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:97563170
(GRCh38)
12:97956948
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97563169:A:G
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1471418327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:97562065
(GRCh38)
12:97955843
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97562064:C:G
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1470126705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:97562197
(GRCh38)
12:97955975
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97562196:A:T
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1470019250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:97563275
(GRCh38)
12:97957053
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97563274:T:A,NC_000012.12:97563274:T:C
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1469716415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:97562097
(GRCh38)
12:97955875
(GRCh37)
- Canonical SPDI:
- NC_000012.12:97562096:A:G
- Gene:
- RMST (Varview), MIR135A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS: