Links from Nucleotide
Items: 1 to 20 of 254
1.
rs1489897372 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 21:42024658
(GRCh38)
21:43444768
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024658:G:GG
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1486128520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:42022059
(GRCh38)
21:43442168
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42022058:A:G
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1484803991 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCCACCATCGTCTTCCAGCCCCACCGTCGTCTTCCAG>-,CCCCACCATCGTCTTCCAGCCCCACCGTCGTCTTCCAGCCCCACCGTCGTCTTCCAGCCCCACCATCGTCTTCCAGCCCCACCGTCGTCTTCCAG
[Show Flanks]
- Chromosome:
- 21:42024366
(GRCh38)
21:43444475
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024342:CCAGCCCCACCGTCGTCTTCCAGCCCCACCATCGTCTTCCAGCCCCACCGTCGTCTTCCAG:CCAGCCCCACCGTCGTCTTCCAG,NC_000021.9:42024342:CCAGCCCCACCGTCGTCTTCCAGCCCCACCATCGTCTTCCAGCCCCACCGTCGTCTTCCAG:CCAGCCCCACCGTCGTCTTCCAGCCCCACCATCGTCTTCCAGCCCCACCGTCGTCTTCCAGCCCCACCGTCGTCTTCCAGCCCCACCATCGTCTTCCAGCCCCACCGTCGTCTTCCAG
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCAGCCCCACCGTCGTCTTCCAG=0./0
(
ALFA)
- HGVS:
NC_000021.9:g.42024366_42024403del, NC_000021.9:g.42024347_42024403dup, NC_000021.8:g.43444475_43444512del, NC_000021.8:g.43444456_43444512dup, NR_027273.2:n.223_260del, NR_027273.2:n.204_260dup, NR_027273.1:n.488_525del, NR_027273.1:n.469_525dup, NR_119384.1:n.452_489del, NR_119384.1:n.433_489dup, NR_119385.1:n.269_306del, NR_119385.1:n.250_306dup, NM_198078.1:c.63_100del, NM_198078.1:c.53_109dup
5.
rs1469742494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 21:42024821
(GRCh38)
21:43444930
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024820:C:G,NC_000021.9:42024820:C:T
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000021.9:g.42024821C>G, NC_000021.9:g.42024821C>T, NC_000021.8:g.43444930C>G, NC_000021.8:g.43444930C>T, NR_027273.2:n.678C>G, NR_027273.2:n.678C>T, NR_027273.1:n.943C>G, NR_027273.1:n.943C>T, NR_119384.1:n.907C>G, NR_119384.1:n.907C>T, NR_119385.1:n.724C>G, NR_119385.1:n.724C>T, NM_198078.1:c.*97C>G, NM_198078.1:c.*97C>T
6.
rs1467943858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:42022106
(GRCh38)
21:43442215
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42022105:C:T
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(Korea1K)
T=0.000036/5
(GnomAD)
T=0.000041/4
(GnomAD_exomes)
T=0.000064/17
(TOPMED)
T=0.000531/9
(TOMMO)
- HGVS:
7.
rs1467661708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 21:42024528
(GRCh38)
21:43444637
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024527:T:C,NC_000021.9:42024527:T:G
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000043/6
(GnomAD)
- HGVS:
NC_000021.9:g.42024528T>C, NC_000021.9:g.42024528T>G, NC_000021.8:g.43444637T>C, NC_000021.8:g.43444637T>G, NR_027273.2:n.385T>C, NR_027273.2:n.385T>G, NR_027273.1:n.650T>C, NR_027273.1:n.650T>G, NR_119384.1:n.614T>C, NR_119384.1:n.614T>G, NR_119385.1:n.431T>C, NR_119385.1:n.431T>G, NM_198078.1:c.218T>C, NM_198078.1:c.218T>G
8.
rs1467166915 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:42024573
(GRCh38)
21:43444682
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024572:T:C
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- 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.
rs1461831124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:42022146
(GRCh38)
21:43442255
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42022145:G:A
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_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)
A=0.000016/2
(GnomAD_exomes)
A=0.000546/1
(Korea1K)
- HGVS:
10.
rs1461733128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:42024835
(GRCh38)
21:43444944
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024834:C:T
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.00006/1
(TOMMO)
- HGVS:
11.
rs1461286916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 21:42024474
(GRCh38)
21:43444583
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024473:G:T
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1458650298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 21:42024488
(GRCh38)
21:43444597
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024487:C:A
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000324/6
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.001116/5
(Estonian)
- HGVS:
13.
rs1454059116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:42022112
(GRCh38)
21:43442221
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42022111:C:G
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD_exomes)
- HGVS:
14.
rs1453496849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:42024308
(GRCh38)
21:43444417
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024307:T:C
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
15.
rs1453468681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:42024429
(GRCh38)
21:43444538
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024428:C:T
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1451943482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 21:42024750
(GRCh38)
21:43444859
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024749:T:C,NC_000021.9:42024749:T:G
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000021.9:g.42024750T>C, NC_000021.9:g.42024750T>G, NC_000021.8:g.43444859T>C, NC_000021.8:g.43444859T>G, NR_027273.2:n.607T>C, NR_027273.2:n.607T>G, NR_027273.1:n.872T>C, NR_027273.1:n.872T>G, NR_119384.1:n.836T>C, NR_119384.1:n.836T>G, NR_119385.1:n.653T>C, NR_119385.1:n.653T>G, NM_198078.1:c.*26T>C, NM_198078.1:c.*26T>G
17.
rs1451780260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 21:42024512
(GRCh38)
21:43444621
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024511:T:G
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
19.
rs1445906262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:42022148
(GRCh38)
21:43442257
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42022147:T:C
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
20.
rs1437091619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 21:42024748
(GRCh38)
21:43444857
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42024747:A:C
- Gene:
- ZNF295-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS: