Links from Nucleotide
Items: 1 to 20 of 134
1.
rs1487674396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:22683786
(GRCh38)
20:22664424
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22683785:G:A,NC_000020.11:22683785:G:T
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000029/4
(GnomAD)
A=0.000071/1
(TOMMO)
- HGVS:
2.
rs1483301579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:22683881
(GRCh38)
20:22664519
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22683880:G:A,NC_000020.11:22683880:G:T
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.00005/7
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS:
3.
rs1470520902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 20:22683679
(GRCh38)
20:22664317
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22683678:C:G,NC_000020.11:22683678:C:T
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
4.
rs1469545867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:22685126
(GRCh38)
20:22665764
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22685125:C:T
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
5.
rs1466473031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:22685147
(GRCh38)
20:22665785
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22685146:T:C
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1459361685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:22685122
(GRCh38)
20:22665760
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22685121:G:T
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_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:
7.
rs1457961914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:22683749
(GRCh38)
20:22664387
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22683748:C:T
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000053/14
(TOPMED)
- HGVS:
8.
rs1457178029 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 20:22683740
(GRCh38)
20:22664378
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22683739:G:
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1452897868 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 20:22684837
(GRCh38)
20:22665475
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22684836:CC:C
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
10.
rs1451990191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:22685139
(GRCh38)
20:22665777
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22685138:A:G
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1451532176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:22685241
(GRCh38)
20:22665879
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22685240:T:C
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1438252971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:22685193
(GRCh38)
20:22665831
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22685192:C:G
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- non_coding_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:
14.
rs1436079581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 20:22684792
(GRCh38)
20:22665430
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22684791:G:A,NC_000020.11:22684791:G:T
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1429345689 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:22685287
(GRCh38)
20:22665925
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22685286:T:G
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000342/1
(KOREAN)
G=0.001092/2
(Korea1K)
- HGVS:
16.
rs1413534319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:22685123
(GRCh38)
20:22665761
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22685122:C:A
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1411850617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:22683671
(GRCh38)
20:22664309
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22683670:G:C
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_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:
19.
rs1392414995 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:22684839
(GRCh38)
20:22665477
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22684838:A:G
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1388253327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:22684795
(GRCh38)
20:22665433
(GRCh37)
- Canonical SPDI:
- NC_000020.11:22684794:C:A
- Gene:
- LINC01747 (Varview), LOC124904963 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: