Links from Gene
Items: 1 to 20 of 618
1.
rs1490364696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:48655174
(GRCh38)
12:49048957
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48655173:C:A
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490095267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 12:48656272
(GRCh38)
12:49050055
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48656271:G:C,NC_000012.12:48656271:G:T
- Gene:
- KANSL2 (Varview), SNORA2A (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
T=0.00924/27
(KOREAN)
G=0.5/3
(SGDP_PRJ)
...more- HGVS:
3.
rs1488080721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:48655222
(GRCh38)
12:49049005
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48655221:G:C
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
...more- HGVS:
4.
rs1487862316 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:48655207
(GRCh38)
12:49048990
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48655206:C:A
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1484756254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:48655483
(GRCh38)
12:49049266
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48655482:C:A
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1484575115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:48656124
(GRCh38)
12:49049907
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48656123:C:A,NC_000012.12:48656123:C:T
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,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)
T=0.000546/1
(Korea1K)
...more- HGVS:
7.
rs1482230338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:48654737
(GRCh38)
12:49048520
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48654736:C:G
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1480510876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:48654890
(GRCh38)
12:49048673
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48654889:C:A
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
...more- HGVS:
9.
rs1479866460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:48655863
(GRCh38)
12:49049646
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48655862:C:A
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1479192709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:48655301
(GRCh38)
12:49049084
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48655300:C:A
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
11.
rs1475983717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:48656314
(GRCh38)
12:49050097
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48656313:C:T
- Gene:
- KANSL2 (Varview), SNORA2A (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
...more- HGVS:
12.
rs1475966447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 12:48654970
(GRCh38)
12:49048753
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48654969:C:A,NC_000012.12:48654969:C:G
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,missense_variant,stop_gained,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
13.
rs1475883698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:48654232
(GRCh38)
12:49048015
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48654231:A:G
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1473984424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:48654544
(GRCh38)
12:49048327
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48654543:C:G,NC_000012.12:48654543:C:T
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1473607865 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CGAGACTGCACCTCTGC>-
[Show Flanks]
- Chromosome:
- 12:48655517
(GRCh38)
12:49049300
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48655514:GCCGAGACTGCACCTCTGC:GC
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GC=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
...more- HGVS:
16.
rs1473601035 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGG>-
[Show Flanks]
- Chromosome:
- 12:48655834
(GRCh38)
12:49049617
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48655831:GGGAGG:GG
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1472618928 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTGCAAAAA>-
[Show Flanks]
- Chromosome:
- 12:48655411
(GRCh38)
12:49049194
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48655404:CAAAAACTGCAAAAA:CAAAAA
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAAAAA=0./0
(
ALFA)
-=0.000064/17
(TOPMED)
-=0.000071/10
(GnomAD)
...more- HGVS:
18.
rs1472605274 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:48655730
(GRCh38)
12:49049513
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48655729:TA:
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
-=0.000546/1
(Korea1K)
...more- HGVS:
19.
rs1471634988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:48654872
(GRCh38)
12:49048655
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48654871:C:T
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
...more- HGVS:
20.
rs1471186330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:48655858
(GRCh38)
12:49049641
(GRCh37)
- Canonical SPDI:
- NC_000012.12:48655857:C:G
- Gene:
- KANSL2 (Varview), SNORA2C (Varview), MIR1291 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: