Links from Gene
Items: 1 to 20 of 878
2.
rs1490132636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25185815
(GRCh38)
15:25430962
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25185814:A:G
- Gene:
- SNORD115-9 (Varview), SNORD115-10 (Varview), SNHG14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_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)
- HGVS:
3.
rs1488621537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:25187156
(GRCh38)
15:25432303
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25187155:C:A
- Gene:
- SNORD115-10 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000042/11
(TOPMED)
A=0.000223/1
(Estonian)
- HGVS:
4.
rs1487723426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 15:25186163
(GRCh38)
15:25431310
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25186162:A:T
- Gene:
- SNORD115-9 (Varview), SNORD115-10 (Varview), SNHG14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
5.
rs1484643317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 15:25187931
(GRCh38)
15:25433078
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25187930:G:C,NC_000015.10:25187930:G:T
- Gene:
- SNORD115-10 (Varview), SNORD115-11 (Varview), SNHG14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
6.
rs1484572784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:25186593
(GRCh38)
15:25431740
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25186592:G:C
- Gene:
- SNORD115-10 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1481634081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25186321
(GRCh38)
15:25431468
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25186320:A:G
- Gene:
- SNORD115-10 (Varview), SNHG14 (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)
- HGVS:
9.
rs1481502056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25185609
(GRCh38)
15:25430756
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25185608:G:A
- Gene:
- SNORD115-9 (Varview), SNORD115-10 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1480224925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25186892
(GRCh38)
15:25432039
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25186891:C:T
- Gene:
- SNORD115-10 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_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:
11.
rs1479869253 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 15:25185906
(GRCh38)
15:25431054
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25185906::C
- Gene:
- SNORD115-9 (Varview), SNORD115-10 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000064/9
(GnomAD)
- HGVS:
13.
rs1477742790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25187831
(GRCh38)
15:25432978
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25187830:C:T
- Gene:
- SNORD115-10 (Varview), SNORD115-11 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
14.
rs1477650066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:25187171
(GRCh38)
15:25432318
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25187170:G:C
- Gene:
- SNORD115-10 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
15.
rs1476929279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:25187662
(GRCh38)
15:25432809
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25187661:C:T
- Gene:
- SNORD115-10 (Varview), SNORD115-11 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1474124770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:25185729
(GRCh38)
15:25430876
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25185728:T:C
- Gene:
- SNORD115-9 (Varview), SNORD115-10 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1474026595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25185615
(GRCh38)
15:25430762
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25185614:G:A
- Gene:
- SNORD115-9 (Varview), SNORD115-10 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1473308788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:25188001
(GRCh38)
15:25433148
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25188000:C:A,NC_000015.10:25188000:C:T
- Gene:
- SNORD115-10 (Varview), SNORD115-11 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1472863501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:25187781
(GRCh38)
15:25432928
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25187780:G:T
- Gene:
- SNORD115-10 (Varview), SNORD115-11 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: