Links from Gene
Items: 1 to 20 of 1000
1.
rs1490820485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 21:45289920
(GRCh38)
21:46709835
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45289919:A:C
- Gene:
- LINC00205 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
3.
rs1490683249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 21:45288079
(GRCh38)
21:46707994
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45288078:T:A
- Gene:
- POFUT2 (Varview), LINC00205 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
4.
rs1490446022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:45286947
(GRCh38)
21:46706862
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45286946:C:G
- Gene:
- POFUT2 (Varview), LINC00205 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.00006/16
(TOPMED)
- HGVS:
5.
rs1490394135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 21:45286070
(GRCh38)
21:46705985
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45286069:G:C
- Gene:
- POFUT2 (Varview), LINC00205 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_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:
6.
rs1490333655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:45288914
(GRCh38)
21:46708829
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45288913:A:G
- Gene:
- POFUT2 (Varview), LINC00205 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.00003/8
(TOPMED)
- HGVS:
7.
rs1490242046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 21:45287666
(GRCh38)
21:46707581
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45287665:G:C
- Gene:
- POFUT2 (Varview), LINC00205 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.08894/1055
(
ALFA)
C=0.00921/149
(TOMMO)
C=0.15959/451
(KOREAN)
G=0.5/2
(SGDP_PRJ)
- HGVS:
8.
rs1490191505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:45291799
(GRCh38)
21:46711714
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45291798:C:G
- Gene:
- LINC00205 (Varview)
- Functional Consequence:
- non_coding_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:
9.
rs1489993745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 21:45297617
(GRCh38)
21:46717532
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45297616:G:T
- Gene:
- LINC00205 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1489963426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:45296728
(GRCh38)
21:46716643
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45296727:G:A
- Gene:
- LINC00205 (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:
11.
rs1489658043 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 21:45290617
(GRCh38)
21:46710533
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45290617:AAAAAA:AAAAAAA
- Gene:
- LINC00205 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS:
12.
rs1489155459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:45296231
(GRCh38)
21:46716146
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45296230:C:T
- Gene:
- LINC00205 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1488973796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:45290592
(GRCh38)
21:46710507
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45290591:G:A
- Gene:
- LINC00205 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
15.
rs1488473198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:45293968
(GRCh38)
21:46713883
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45293967:G:A
- Gene:
- LINC00205 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1488336821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:45293168
(GRCh38)
21:46713083
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45293167:G:A
- Gene:
- LINC00205 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488177530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:45295812
(GRCh38)
21:46715727
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45295811:G:A
- Gene:
- LINC00205 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000064/17
(TOPMED)
- HGVS:
19.
rs1487616288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 21:45289949
(GRCh38)
21:46709864
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45289948:C:A,NC_000021.9:45289948:C:G
- Gene:
- LINC00205 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1487434992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:45297005
(GRCh38)
21:46716920
(GRCh37)
- Canonical SPDI:
- NC_000021.9:45297004:A:G
- Gene:
- LINC00205 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS: