Links from Gene
Items: 1 to 20 of 1187
1.
rs1490469251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:23404127
(GRCh38)
15:23649274
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23404126:G:A
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
2.
rs1490093880 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGAGGAGGG
[Show Flanks]
- Chromosome:
- 15:23402092
(GRCh38)
15:23647240
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23402092:AGGAGGGTGAGGAGGG:AGGAGGGTGAGGAGGGTGAGGAGGG
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGGAGGGTGAGGAGGGTGAGGAGGG=0./0
(
ALFA)
AGGAGGGTG=0.000011/3
(TOPMED)
AGGAGGGTG=0.000021/3
(GnomAD)
- HGVS:
3.
rs1490044836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:23407693
(GRCh38)
15:23652840
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23407692:G:C
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1488872688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:23403215
(GRCh38)
15:23648362
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23403214:G:A
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00022/1
(
ALFA)
A=0.00004/1
(TOMMO)
- HGVS:
6.
rs1488546721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:23402003
(GRCh38)
15:23647150
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23402002:G:A
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- 2KB_upstream_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)
- HGVS:
7.
rs1488432403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:23405253
(GRCh38)
15:23650400
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23405252:T:G
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
8.
rs1488350242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:23405483
(GRCh38)
15:23650630
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23405482:A:G
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
9.
rs1488024230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 15:23404158
(GRCh38)
15:23649305
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23404157:T:A,NC_000015.10:23404157:T:C
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
10.
rs1488021312 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:23404347
(GRCh38)
15:23649494
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23404346:A:G
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486940236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:23402663
(GRCh38)
15:23647810
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23402662:G:T
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1485989371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:23407701
(GRCh38)
15:23652848
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23407700:A:G
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
14.
rs1485294169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:23404821
(GRCh38)
15:23649968
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23404820:T:C
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- 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:
15.
rs1485103992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:23407442
(GRCh38)
15:23652589
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23407441:G:A
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
16.
rs1484568201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:23405956
(GRCh38)
15:23651103
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23405955:T:C
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1484337693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:23405387
(GRCh38)
15:23650534
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23405386:T:C
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000142/2
(TOMMO)
C=0.000156/1
(1000Genomes)
- HGVS:
18.
rs1483737335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 15:23404117
(GRCh38)
15:23649264
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23404116:T:C,NC_000015.10:23404116:T:G
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
C=0.000312/2
(1000Genomes)
- HGVS:
20.
rs1483635139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:23402088
(GRCh38)
15:23647235
(GRCh37)
- Canonical SPDI:
- NC_000015.10:23402087:C:A
- Gene:
- LOC105370728 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: