Links from Nucleotide
Items: 1 to 20 of 464
1.
rs1490743415 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:180835702
(GRCh38)
5:180262702
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835701:T:A
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000034/9
(TOPMED)
- HGVS:
2.
rs1486945710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:180835368
(GRCh38)
5:180262368
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835367:T:G
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000214/3
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000045/12
(TOPMED)
- HGVS:
3.
rs1485875946 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 5:180831835
(GRCh38)
5:180258835
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180831834:GG:G
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
4.
rs1483185880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:180835485
(GRCh38)
5:180262485
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835484:A:G
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1479985997 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T,TT
[Show Flanks]
- Chromosome:
- 5:180835338
(GRCh38)
5:180262339
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835338:T:TT,NC_000005.10:180835338:T:TTT
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
TT=0.000007/1
(GnomAD)
- HGVS:
6.
rs1478599001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:180835529
(GRCh38)
5:180262529
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835528:A:G
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
7.
rs1472449436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:180835723
(GRCh38)
5:180262723
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835722:C:T
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1471540724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:180835208
(GRCh38)
5:180262208
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835207:C:T
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_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:
10.
rs1468270624 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 5:180831061
(GRCh38)
5:180258062
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180831061:A:AA
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1466058566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:180831097
(GRCh38)
5:180258097
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180831096:G:A
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1463977230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:180835397
(GRCh38)
5:180262397
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835396:C:T
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1462161097 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 5:180831937
(GRCh38)
5:180258937
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180831936:A:
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
15.
rs1461274771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:180834342
(GRCh38)
5:180261342
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180834341:C:T
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,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)
- HGVS:
16.
rs1460169025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:180834606
(GRCh38)
5:180261606
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180834605:A:T
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00049/8
(
ALFA)
T=0.00094/6
(1000Genomes)
T=0.00179/8
(Estonian)
T=0.00205/6
(KOREAN)
T=0.00347/58
(TOMMO)
- HGVS:
17.
rs1459917205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:180835610
(GRCh38)
5:180262610
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835609:T:C
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1459544708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:180831007
(GRCh38)
5:180258007
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180831006:G:A
- Gene:
- ZFP62 (Varview), LINC00847 (Varview), HEIH (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1457196595 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTT>-
[Show Flanks]
- Chromosome:
- 5:180835580
(GRCh38)
5:180262580
(GRCh37)
- Canonical SPDI:
- NC_000005.10:180835577:TTCTT:TT
- Gene:
- ZFP62 (Varview), LINC00847 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS: