Links from Gene
Items: 1 to 20 of 2181
1.
rs1490738148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:85286806
(GRCh38)
16:85320412
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85286805:C:G,NC_000016.10:85286805:C:T
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
2.
rs1490666506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:85284417
(GRCh38)
16:85318023
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85284416:G:C
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
3.
rs1490104664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:85283601
(GRCh38)
16:85317207
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85283600:A:C
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_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:
4.
rs1489845324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 16:85283720
(GRCh38)
16:85317326
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85283719:G:C,NC_000016.10:85283719:G:T
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489833054 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 16:85288065
(GRCh38)
16:85321671
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85288064:CC:C
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
6.
rs1489712036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 16:85285227
(GRCh38)
16:85318833
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85285226:G:C,NC_000016.10:85285226:G:T
- Gene:
- GSE1 (Varview), LINC00311 (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:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489567830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:85282998
(GRCh38)
16:85316604
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85282997:C:G,NC_000016.10:85282997:C:T
- Gene:
- GSE1 (Varview), LINC00311 (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=0.0002/3
(
ALFA)
T=0.00067/3
(Estonian)
- HGVS:
9.
rs1489518866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:85281290
(GRCh38)
16:85314896
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85281289:A:G
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000447/2
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000446/2
(Estonian)
- HGVS:
10.
rs1489387321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:85283571
(GRCh38)
16:85317177
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85283570:G:A
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1489267152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:85288235
(GRCh38)
16:85321841
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85288234:G:A
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489158065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:85282510
(GRCh38)
16:85316116
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85282509:C:T
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489135656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:85288048
(GRCh38)
16:85321654
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85288047:T:C
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487934726 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:85282170
(GRCh38)
16:85315776
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85282169:G:A
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487756082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:85284666
(GRCh38)
16:85318272
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85284665:G:A
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000312/2
(1000Genomes)
- HGVS:
17.
rs1487317672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:85286557
(GRCh38)
16:85320163
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85286556:C:T
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1485684770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:85286174
(GRCh38)
16:85319780
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85286173:C:T
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000283/5
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
20.
rs1485359125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:85285802
(GRCh38)
16:85319408
(GRCh37)
- Canonical SPDI:
- NC_000016.10:85285801:G:A,NC_000016.10:85285801:G:T
- Gene:
- GSE1 (Varview), LINC00311 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS: