Links from Gene
Items: 1 to 20 of 567
1.
rs1489333288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:18129228
(GRCh38)
7:18168851
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18129227:C:A
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1488355215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:18128300
(GRCh38)
7:18167923
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18128299:C:T
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
3.
rs1488152857 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:18126978
(GRCh38)
7:18166601
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18126977:A:G
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1484090274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:18128319
(GRCh38)
7:18167942
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18128318:G:A
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1482388559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:18127305
(GRCh38)
7:18166928
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18127304:T:A
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,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:
7.
rs1479652960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 7:18127979
(GRCh38)
7:18167602
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18127978:A:G,NC_000007.14:18127978:A:T
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
T=0.000342/1
(KOREAN)
- HGVS:
8.
rs1478563707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:18127637
(GRCh38)
7:18167260
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18127636:T:G
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1478427793 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:18128824
(GRCh38)
7:18168448
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18128824:G:GG
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1475318676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:18128913
(GRCh38)
7:18168536
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18128912:C:T
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_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:
11.
rs1474796370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:18127791
(GRCh38)
7:18167414
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18127790:G:A
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1474518102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:18126975
(GRCh38)
7:18166598
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18126974:G:A
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1474386025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:18127399
(GRCh38)
7:18167022
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18127398:T:G
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1473407406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:18126846
(GRCh38)
7:18166469
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18126845:A:G
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
15.
rs1473356749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:18127975
(GRCh38)
7:18167598
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18127974:C:G
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
- HGVS:
16.
rs1472847661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:18126754
(GRCh38)
7:18166377
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18126753:T:C
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_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:
17.
rs1472042632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:18129058
(GRCh38)
7:18168681
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18129057:A:G
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
18.
rs1469994248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:18127053
(GRCh38)
7:18166676
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18127052:G:T
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_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.
rs1469950948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:18128550
(GRCh38)
7:18168173
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18128549:G:C
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_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:
20.
rs1469443046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:18128501
(GRCh38)
7:18168124
(GRCh37)
- Canonical SPDI:
- NC_000007.14:18128500:G:C
- Gene:
- HDAC9 (Varview), MIR1302-6 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: