Links from Nucleotide
Items: 1 to 20 of 345
2.
rs1490403996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:118664844
(GRCh38)
4:119585999
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664843:G:A
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
3.
rs1490299488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:118664640
(GRCh38)
4:119585795
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664639:C:T
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_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)
T=0.000156/1
(1000Genomes)
C=0.5/1
(SGDP_PRJ)
- HGVS:
4.
rs1486695164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:118664873
(GRCh38)
4:119586028
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664872:G:A
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1486523608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:118673540
(GRCh38)
4:119594695
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118673539:G:C
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0./0
(GnomAD)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1485985341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:118664915
(GRCh38)
4:119586070
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664914:A:G
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_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:
7.
rs1480595648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:118664615
(GRCh38)
4:119585770
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664614:T:C
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_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:
9.
rs1477138582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:118673548
(GRCh38)
4:119594703
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118673547:C:A
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
10.
rs1476456522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:118664497
(GRCh38)
4:119585652
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664496:G:T
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1475391140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:118664166
(GRCh38)
4:119585321
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664165:C:G,NC_000004.12:118664165:C:T
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000008/1
(GnomAD)
- HGVS:
12.
rs1473030654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:118664308
(GRCh38)
4:119585463
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664307:G:C
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1472411468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:118678084
(GRCh38)
4:119599239
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118678083:G:A
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000034/9
(TOPMED)
A=0.000156/1
(1000Genomes)
- HGVS:
15.
rs1465140256 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:118673536
(GRCh38)
4:119594691
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118673535:G:A
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1463063288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:118664889
(GRCh38)
4:119586044
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664888:C:G
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_downstream_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:
18.
rs1456829297 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:118664279
(GRCh38)
4:119585434
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664278:T:C
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000015/2
(GnomAD)
- HGVS:
19.
rs1453252093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:118664173
(GRCh38)
4:119585328
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664172:G:C
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
- HGVS:
20.
rs1451926911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:118664985
(GRCh38)
4:119586140
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118664984:T:C
- Gene:
- METTL14-DT (Varview), LOC124900768 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS: