Links from Gene
Items: 1 to 20 of 3832
1.
rs1491188961 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 14:21500371
(GRCh38)
14:21968513
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21500369:AGA:A
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.0145/172
(
ALFA)
-=0.000991/17
(TOMMO)
-=0.003821/7
(Korea1K)
-=0.019758/2468
(GnomAD)
- HGVS:
2.
rs1490844152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:21502072
(GRCh38)
14:21970213
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21502071:G:A
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS:
3.
rs1490812466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:21509686
(GRCh38)
14:21977828
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21509685:G:C
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490615765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:21509127
(GRCh38)
14:21977269
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21509126:C:T
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490485103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:21498982
(GRCh38)
14:21967126
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21498981:A:G
- Gene:
- TOX4 (Varview), METTL3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1490351463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 14:21513099
(GRCh38)
14:21981250
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21513098:T:C,NC_000014.9:21513098:T:G
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490040798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 14:21502582
(GRCh38)
14:21970723
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21502581:G:A,NC_000014.9:21502581:G:C,NC_000014.9:21502581:G:T
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489923538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:21504237
(GRCh38)
14:21972380
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21504236:T:C
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1488574544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:21508088
(GRCh38)
14:21976230
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21508087:C:G,NC_000014.9:21508087:C:T
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
11.
rs1487920925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 14:21511442
(GRCh38)
14:21979584
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21511441:T:A,NC_000014.9:21511441:T:G
- Gene:
- METTL3 (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=0.000026/7
(TOPMED)
G=0.001638/3
(Korea1K)
- HGVS:
12.
rs1487887666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:21508850
(GRCh38)
14:21976992
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21508849:C:A,NC_000014.9:21508849:C:T
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00005/7
(GnomAD)
T=0.000546/1
(Korea1K)
- HGVS:
13.
rs1487706516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 14:21512223
(GRCh38)
14:21980373
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21512222:G:A,NC_000014.9:21512222:G:C,NC_000014.9:21512222:G:T
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
14.
rs1487585988 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 14:21511804
(GRCh38)
14:21979946
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21511803:A:
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487378788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:21512600
(GRCh38)
14:21980750
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21512599:G:A
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1487040928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:21506850
(GRCh38)
14:21974992
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21506849:T:C
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1486891409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:21497877
(GRCh38)
14:21966021
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21497876:C:T
- Gene:
- TOX4 (Varview), METTL3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1486230889 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 14:21498500
(GRCh38)
14:21966644
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21498499:C:
- Gene:
- TOX4 (Varview), METTL3 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
-=0.000128/18
(GnomAD)
- HGVS:
19.
rs1486100378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:21505903
(GRCh38)
14:21974045
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21505902:A:T
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1486040574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:21505653
(GRCh38)
14:21973795
(GRCh37)
- Canonical SPDI:
- NC_000014.9:21505652:G:A
- Gene:
- METTL3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.001119/5
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.001116/5
(Estonian)
- HGVS: