Links from Nucleotide
Items: 1 to 20 of 158
1.
rs1490556240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:16896092
(GRCh38)
1:17222587
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896091:A:G
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000036/5
(GnomAD)
- HGVS:
3.
rs1490037963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 1:16896032
(GRCh38)
1:17222527
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896031:C:A,NC_000001.11:16896031:C:G,NC_000001.11:16896031:C:T
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0./0
(Korea1K)
T=0.00039/7
(TOMMO)
T=0.00137/4
(KOREAN)
C=0.5/2
(SGDP_PRJ)
- HGVS:
NC_000001.11:g.16896032C>A, NC_000001.11:g.16896032C>G, NC_000001.11:g.16896032C>T, NC_000001.10:g.17222527C>A, NC_000001.10:g.17222527C>G, NC_000001.10:g.17222527C>T, NW_025791756.1:g.1311185C>A, NW_025791756.1:g.1311185C>G, NW_025791756.1:g.1311185C>T, NR_004427.1:n.53C>A, NR_004427.1:n.53C>G, NR_004427.1:n.53C>T
6.
rs1482744897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 1:16896133
(GRCh38)
1:17222628
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896132:G:A,NC_000001.11:16896132:G:C,NC_000001.11:16896132:G:T
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00006/1
(TOMMO)
A=0.00034/1
(KOREAN)
- HGVS:
NC_000001.11:g.16896133G>A, NC_000001.11:g.16896133G>C, NC_000001.11:g.16896133G>T, NC_000001.10:g.17222628G>A, NC_000001.10:g.17222628G>C, NC_000001.10:g.17222628G>T, NW_025791756.1:g.1311286G>A, NW_025791756.1:g.1311286G>C, NW_025791756.1:g.1311286G>T, NR_004427.1:n.154G>A, NR_004427.1:n.154G>C, NR_004427.1:n.154G>T
7.
rs1482293240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:16896098
(GRCh38)
1:17222593
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896097:C:G,NC_000001.11:16896097:C:T
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(KOREAN)
T=0.00004/1
(TOMMO)
T=0.00047/3
(1000Genomes)
T=0.00055/1
(Korea1K)
- HGVS:
9.
rs1471818373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 1:16895993
(GRCh38)
1:17222488
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16895992:A:C,NC_000001.11:16895992:A:G,NC_000001.11:16895992:A:T
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.00016/1
(1000Genomes)
C=0.00055/1
(Korea1K)
C=0.00107/18
(TOMMO)
C=0.00205/6
(KOREAN)
- HGVS:
NC_000001.11:g.16895993A>C, NC_000001.11:g.16895993A>G, NC_000001.11:g.16895993A>T, NC_000001.10:g.17222488A>C, NC_000001.10:g.17222488A>G, NC_000001.10:g.17222488A>T, NW_025791756.1:g.1311146A>C, NW_025791756.1:g.1311146A>G, NW_025791756.1:g.1311146A>T, NR_004427.1:n.14A>C, NR_004427.1:n.14A>G, NR_004427.1:n.14A>T
10.
rs1471429493 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 1:16896071
(GRCh38)
1:17222566
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896070:C:A,NC_000001.11:16896070:C:G,NC_000001.11:16896070:C:T
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000342/1
(KOREAN)
T=0.000354/6
(TOMMO)
C=0.5/1
(SGDP_PRJ)
- HGVS:
NC_000001.11:g.16896071C>A, NC_000001.11:g.16896071C>G, NC_000001.11:g.16896071C>T, NC_000001.10:g.17222566C>A, NC_000001.10:g.17222566C>G, NC_000001.10:g.17222566C>T, NW_025791756.1:g.1311224C>A, NW_025791756.1:g.1311224C>G, NW_025791756.1:g.1311224C>T, NR_004427.1:n.92C>A, NR_004427.1:n.92C>G, NR_004427.1:n.92C>T
11.
rs1469138932 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGTTCGCGCTTTCCCCTGACT>-
[Show Flanks]
- Chromosome:
- 1:16896125
(GRCh38)
1:17222620
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896120:GACTGCGTTCGCGCTTTCCCCTGACT:GACT
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GACT=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
12.
rs1467931882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:16896047
(GRCh38)
1:17222542
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896046:G:A,NC_000001.11:16896046:G:T
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000142/2
(TOMMO)
- HGVS:
14.
rs1464451773 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 1:16896038
(GRCh38)
1:17222533
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896037:T:A,NC_000001.11:16896037:T:C,NC_000001.11:16896037:T:G
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.16896038T>A, NC_000001.11:g.16896038T>C, NC_000001.11:g.16896038T>G, NC_000001.10:g.17222533T>A, NC_000001.10:g.17222533T>C, NC_000001.10:g.17222533T>G, NW_025791756.1:g.1311191T>A, NW_025791756.1:g.1311191T>C, NW_025791756.1:g.1311191T>G, NR_004427.1:n.59T>A, NR_004427.1:n.59T>C, NR_004427.1:n.59T>G
15.
rs1463892735 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:16896019
(GRCh38)
1:17222514
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896018:GG:G
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
16.
rs1458390238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:16896106
(GRCh38)
1:17222601
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896105:T:A,NC_000001.11:16896105:T:C
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000179/25
(GnomAD)
- HGVS:
18.
rs1455179064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:16896050
(GRCh38)
1:17222545
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896049:C:T
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00017/2
(
ALFA)
T=0.00012/2
(TOMMO)
- HGVS:
19.
rs1450676724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 1:16896043
(GRCh38)
1:17222538
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896042:C:A,NC_000001.11:16896042:C:G,NC_000001.11:16896042:C:T
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00137/4
(KOREAN)
- HGVS:
NC_000001.11:g.16896043C>A, NC_000001.11:g.16896043C>G, NC_000001.11:g.16896043C>T, NC_000001.10:g.17222538C>A, NC_000001.10:g.17222538C>G, NC_000001.10:g.17222538C>T, NW_025791756.1:g.1311196C>A, NW_025791756.1:g.1311196C>G, NW_025791756.1:g.1311196C>T, NR_004427.1:n.64C>A, NR_004427.1:n.64C>G, NR_004427.1:n.64C>T
20.
rs1448969288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:16896016
(GRCh38)
1:17222511
(GRCh37)
- Canonical SPDI:
- NC_000001.11:16896015:G:A,NC_000001.11:16896015:G:T
- Gene:
- RNU1-2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000061/1
(
ALFA)
A=0.000445/62
(GnomAD)
A=0.001874/12
(1000Genomes)
A=0.005133/15
(KOREAN)
A=0.008734/16
(Korea1K)
A=0.012138/203
(TOMMO)
G=0.5/1
(SGDP_PRJ)
- HGVS: