Links from Gene
Items: 1 to 20 of 3989
1.
rs1491588331 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 20:49284590
(GRCh38)
20:47901128
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49284590::A
- Gene:
- ZFAS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.02101/10
(GnomAD)
- HGVS:
3.
rs1491026249 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 20:49277015
(GRCh38)
20:47893552
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49277013:AGA:A
- Gene:
- SNORD12C (Varview), ZNFX1 (Varview), ZFAS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
4.
rs1490920419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:49286419
(GRCh38)
20:47902956
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49286418:G:A
- Gene:
- ZFAS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490717768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:49280859
(GRCh38)
20:47897396
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49280858:T:C
- Gene:
- ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
6.
rs1490559259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:49279756
(GRCh38)
20:47896293
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49279755:G:A
- Gene:
- ZNFX1 (Varview), ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (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=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490385528 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTTT>-
[Show Flanks]
- Chromosome:
- 20:49289750
(GRCh38)
20:47906287
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49289746:TTTCTTTT:TTT
- Gene:
- ZFAS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0.000071/1
(
ALFA)
-=0.000093/13
(GnomAD)
-=0.000106/2
(TOMMO)
-=0.000113/30
(TOPMED)
- HGVS:
8.
rs1490005567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:49277708
(GRCh38)
20:47894245
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49277707:C:T
- Gene:
- SNORD12C (Varview), ZNFX1 (Varview), ZFAS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000046/6
(GnomAD)
- HGVS:
9.
rs1489757533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:49286793
(GRCh38)
20:47903330
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49286792:A:G
- Gene:
- ZFAS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0./0
(GnomAD)
G=0.000023/6
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
10.
rs1489517327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:49280558
(GRCh38)
20:47897095
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49280557:A:G
- Gene:
- ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489434614 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 20:49282083
(GRCh38)
20:47898620
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49282081:TGT:T
- Gene:
- ZFAS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
12.
rs1489356643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:49279271
(GRCh38)
20:47895808
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49279270:C:T
- Gene:
- SNORD12C (Varview), ZNFX1 (Varview), ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1488653583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:49287842
(GRCh38)
20:47904379
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49287841:T:C
- Gene:
- ZFAS1 (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)
C=0.000035/1
(TOMMO)
C=0.000546/1
(Korea1K)
- HGVS:
14.
rs1488604945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:49283680
(GRCh38)
20:47900217
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49283679:C:T
- Gene:
- ZFAS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488584697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:49278489
(GRCh38)
20:47895026
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49278488:C:A
- Gene:
- SNORD12C (Varview), ZNFX1 (Varview), ZFAS1 (Varview), SNORD12B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488553595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:49279745
(GRCh38)
20:47896282
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49279744:T:C
- Gene:
- ZNFX1 (Varview), ZFAS1 (Varview), SNORD12 (Varview), SNORD12B (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1487511708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:49284415
(GRCh38)
20:47900952
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49284414:G:A
- Gene:
- ZFAS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1487469965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:49285240
(GRCh38)
20:47901777
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49285239:C:G
- Gene:
- ZFAS1 (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:
20.
rs1487432065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:49285738
(GRCh38)
20:47902275
(GRCh37)
- Canonical SPDI:
- NC_000020.11:49285737:C:A
- Gene:
- ZFAS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: