Links from Nucleotide
Items: 1 to 20 of 177
1.
rs1490111228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:171374804
(GRCh38)
2:172231314
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171374803:T:C
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1485953570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:171374846
(GRCh38)
2:172231356
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171374845:T:C
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
4.
rs1480719247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:171374877
(GRCh38)
2:172231387
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171374876:A:G
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1477581700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:171375344
(GRCh38)
2:172231854
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171375343:T:C
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
6.
rs1477092240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:171375269
(GRCh38)
2:172231779
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171375268:T:C
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1475979393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:171374996
(GRCh38)
2:172231506
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171374995:G:A
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
8.
rs1471636741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:171375086
(GRCh38)
2:172231596
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171375085:G:A
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1471013062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:171375347
(GRCh38)
2:172231857
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171375346:T:A
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
10.
rs1469902454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:171375125
(GRCh38)
2:172231635
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171375124:C:T
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
11.
rs1462980864 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 2:171374990
(GRCh38)
2:172231500
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171374989:G:C,NC_000002.12:171374989:G:T
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
T=0.000071/1
(TOMMO)
- HGVS:
12.
rs1462570275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:171375077
(GRCh38)
2:172231587
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171375076:A:G
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1454726569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:171375194
(GRCh38)
2:172231704
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171375193:A:G
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1454694128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:171375196
(GRCh38)
2:172231706
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171375195:C:T
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.00003/8
(TOPMED)
T=0.000546/1
(Korea1K)
- HGVS:
15.
rs1454262725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:171374839
(GRCh38)
2:172231349
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171374838:G:A
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1442382147 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:171375136
(GRCh38)
2:172231646
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171375135:G:A,NC_000002.12:171375135:G:T
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1440381215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:171375383
(GRCh38)
2:172231893
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171375382:G:A
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
18.
rs1434641022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:171374892
(GRCh38)
2:172231402
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171374891:A:C
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1418756917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:171375244
(GRCh38)
2:172231754
(GRCh37)
- Canonical SPDI:
- NC_000002.12:171375243:T:C
- Gene:
- METTL8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS: