Links from Nucleotide
Items: 1 to 20 of 316
1.
rs1490782653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 21:32797665
(GRCh38)
21:34169975
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32797664:C:A,NC_000021.9:32797664:C:T
- Gene:
- C21orf62-AS1 (Varview), C21orf62 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000021.9:g.32797665C>A, NC_000021.9:g.32797665C>T, NC_000021.8:g.34169975C>A, NC_000021.8:g.34169975C>T, NW_003315969.2:g.28587C>A, NW_003315969.2:g.28587C>T, NW_003315969.1:g.28586C>A, NW_003315969.1:g.28586C>T, NR_024622.1:n.1161C>A, NR_024622.1:n.1161C>T, NR_024623.1:n.1149C>A, NR_024623.1:n.1149C>T, NM_001006116.1:c.*619C>A, NM_001006116.1:c.*619C>T
2.
rs1489872334 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:32797647
(GRCh38)
21:34169957
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32797646:T:C
- Gene:
- C21orf62-AS1 (Varview), C21orf62 (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
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1488875581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:32797249
(GRCh38)
21:34169559
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32797248:T:C
- Gene:
- C21orf62-AS1 (Varview), C21orf62 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
5.
rs1484924972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:32784837
(GRCh38)
21:34157148
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32784836:G:A
- Gene:
- C21orf62-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000043/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1480492909 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:32797290
(GRCh38)
21:34169600
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32797289:C:T
- Gene:
- C21orf62-AS1 (Varview), C21orf62 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
8.
rs1475604963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 21:32797095
(GRCh38)
21:34169405
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32797094:C:A
- Gene:
- C21orf62-AS1 (Varview), C21orf62 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000008/1
(GnomAD_exomes)
- HGVS:
10.
rs1468531130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 21:32797005
(GRCh38)
21:34169315
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32797004:T:G
- Gene:
- C21orf62-AS1 (Varview), C21orf62 (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
(TOPMED)
- HGVS:
11.
rs1468339655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:32784808
(GRCh38)
21:34157119
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32784807:A:G
- Gene:
- C21orf62-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
12.
rs1464477335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:32772256
(GRCh38)
21:34144567
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32772255:A:G
- Gene:
- C21orf62-AS1 (Varview), PAXBP1 (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:
14.
rs1462207848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 21:32797399
(GRCh38)
21:34169709
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32797398:C:A,NC_000021.9:32797398:C:G,NC_000021.9:32797398:C:T
- Gene:
- C21orf62-AS1 (Varview), C21orf62 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000021.9:g.32797399C>A, NC_000021.9:g.32797399C>G, NC_000021.9:g.32797399C>T, NC_000021.8:g.34169709C>A, NC_000021.8:g.34169709C>G, NC_000021.8:g.34169709C>T, NW_003315969.2:g.28321C>A, NW_003315969.2:g.28321C>G, NW_003315969.2:g.28321C>T, NW_003315969.1:g.28320C>A, NW_003315969.1:g.28320C>G, NW_003315969.1:g.28320C>T, NR_024622.1:n.895C>A, NR_024622.1:n.895C>G, NR_024622.1:n.895C>T, NR_024623.1:n.883C>A, NR_024623.1:n.883C>G, NR_024623.1:n.883C>T, NM_001006116.1:c.*353C>A, NM_001006116.1:c.*353C>G, NM_001006116.1:c.*353C>T
15.
rs1462023015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:32797039
(GRCh38)
21:34169349
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32797038:A:G
- Gene:
- C21orf62-AS1 (Varview), C21orf62 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000051/1
(
ALFA)
G=0.000007/1
(GnomAD_exomes)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1457232928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 21:32772300
(GRCh38)
21:34144611
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32772299:T:G
- Gene:
- C21orf62-AS1 (Varview), PAXBP1 (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=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1457230416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:32797079
(GRCh38)
21:34169389
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32797078:C:T
- Gene:
- C21orf62-AS1 (Varview), C21orf62 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD_exomes)
- HGVS:
18.
rs1456973076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:32788658
(GRCh38)
21:34160969
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32788657:G:A
- Gene:
- C21orf62-AS1 (Varview)
- Functional Consequence:
- non_coding_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:
19.
rs1456441693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:32796992
(GRCh38)
21:34169302
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32796991:A:G
- Gene:
- C21orf62-AS1 (Varview), C21orf62 (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
(TOPMED)
G=0.000012/1
(GnomAD)
- HGVS:
20.
rs1454927098 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:32784911
(GRCh38)
21:34157222
(GRCh37)
- Canonical SPDI:
- NC_000021.9:32784910:T:C
- Gene:
- C21orf62-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: