Links from Gene
Items: 1 to 20 of 598
2.
rs1488161117 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 3:37968351
(GRCh38)
3:38009842
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37968350:CCC:CC
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
3.
rs1488128720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:37968969
(GRCh38)
3:38010460
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37968968:C:T
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
4.
rs1487697722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:37967994
(GRCh38)
3:38009485
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37967993:A:G
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000342/1
(KOREAN)
G=0.001699/28
(TOMMO)
A=0.5/1
(SGDP_PRJ)
- HGVS:
5.
rs1486459866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:37969494
(GRCh38)
3:38010985
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37969493:G:A
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
6.
rs1486103292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:37969614
(GRCh38)
3:38011105
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37969613:G:A
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
7.
rs1484624168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:37968581
(GRCh38)
3:38010072
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37968580:A:G
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
8.
rs1482843166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:37968587
(GRCh38)
3:38010078
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37968586:T:C
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
9.
rs1478835766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:37967625
(GRCh38)
3:38009116
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37967624:G:A
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1477177507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:37968100
(GRCh38)
3:38009591
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37968099:G:A,NC_000003.12:37968099:G:C
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
11.
rs1476952810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:37969573
(GRCh38)
3:38011064
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37969572:G:A
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1476654016 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:37969268
(GRCh38)
3:38010759
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37969267:T:C
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1476033826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:37967899
(GRCh38)
3:38009390
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37967898:A:C
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000005/1
(GnomAD_exomes)
- HGVS:
14.
rs1471977966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:37969232
(GRCh38)
3:38010723
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37969231:T:G
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1470240963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:37968287
(GRCh38)
3:38009778
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37968286:C:T
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD_exomes)
- HGVS:
16.
rs1470002495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:37968008
(GRCh38)
3:38009499
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37968007:G:A
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
17.
rs1467643471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:37967718
(GRCh38)
3:38009209
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37967717:T:C
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1467510203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:37968370
(GRCh38)
3:38009861
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37968369:G:A
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000012/1
(GnomAD_exomes)
A=0.000026/7
(TOPMED)
- HGVS:
19.
rs1465890604 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:37968541
(GRCh38)
3:38010032
(GRCh37)
- Canonical SPDI:
- NC_000003.12:37968540:A:T
- Gene:
- CTDSPL (Varview), MIR26A1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: