Links from Nucleotide
Items: 1 to 20 of 53
1.
rs1438987504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:119060132
(GRCh38)
10:120819644
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060131:T:C
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000009/2
(GnomAD_exomes)
- HGVS:
2.
rs1434268413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 10:119060118
(GRCh38)
10:120819630
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060117:G:A,NC_000010.11:119060117:G:C
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00004/1
(
ALFA)
A=0.00004/1
(TOMMO)
A=0.00022/1
(Estonian)
- HGVS:
3.
rs1409752173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:119060122
(GRCh38)
10:120819634
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060121:G:A
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
4.
rs1409387218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 10:119060067
(GRCh38)
10:120819579
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060066:T:C,NC_000010.11:119060066:T:G
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1409337138 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAA>-
[Show Flanks]
- Chromosome:
- 10:119060091
(GRCh38)
10:120819603
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060088:AAGAAA:AA
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000004/1
(TOPMED)
- HGVS:
6.
rs1390486186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 10:119060080
(GRCh38)
10:120819592
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060079:A:T
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1385953276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:119060029
(GRCh38)
10:120819541
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060028:G:A
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS:
8.
rs1370606632 has merged into rs780815507 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 10:119060075
(GRCh38)
10:120819587
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060074:TTT:TT,NC_000010.11:119060074:TTT:TTTT
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000009/1
(ExAC)
- HGVS:
10.
rs1366697347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:119060087
(GRCh38)
10:120819599
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060086:A:G
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1331453577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:119060052
(GRCh38)
10:120819564
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060051:T:C
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1309527068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 10:119060074
(GRCh38)
10:120819586
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060073:A:T
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- 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=0.000018/4
(GnomAD_exomes)
T=0.000027/3
(ExAC)
- HGVS:
14.
rs1305525555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:119060082
(GRCh38)
10:120819594
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060081:A:G
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1293925270 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAAA>-
[Show Flanks]
- Chromosome:
- 10:119060113
(GRCh38)
10:120819625
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060109:AAAAGAAA:AAA
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000005/1
(GnomAD_exomes)
- HGVS:
16.
rs1286513979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:119060091
(GRCh38)
10:120819603
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060090:G:A
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000013/3
(GnomAD_exomes)
- HGVS:
17.
rs1270895576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:119060060
(GRCh38)
10:120819572
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060059:A:G
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1266513311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:119060048
(GRCh38)
10:120819560
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060047:G:C
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000031/7
(GnomAD_exomes)
C=0.000142/2
(TOMMO)
C=0.002053/6
(KOREAN)
C=0.002183/4
(Korea1K)
- HGVS:
20.
rs1240031604 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:119060100
(GRCh38)
10:120819612
(GRCh37)
- Canonical SPDI:
- NC_000010.11:119060099:C:G
- Gene:
- EIF3A (Varview), SNORA19 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS: