Links from Gene
Items: 1 to 20 of 633
1.
rs1489443599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:25101170
(GRCh38)
15:25346317
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25101169:A:C
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
2.
rs1487808144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25101595
(GRCh38)
15:25346742
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25101594:A:G
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1486878705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25101221
(GRCh38)
15:25346368
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25101220:A:G
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1485280957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:25100676
(GRCh38)
15:25345823
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25100675:T:C
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
5.
rs1485192335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25101055
(GRCh38)
15:25346202
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25101054:G:A
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_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.
rs1484190961 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 15:25101812
(GRCh38)
15:25346959
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25101811:TT:T
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
9.
rs1482018352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:25099864
(GRCh38)
15:25345011
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25099863:T:G
- Gene:
- SNORD116-26 (Varview), SNORD116-27 (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=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
10.
rs1480908759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 15:25100962
(GRCh38)
15:25346109
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25100961:T:A,NC_000015.10:25100961:T:C
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1479613627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:25099591
(GRCh38)
15:25344738
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25099590:G:A
- Gene:
- SNORD116-26 (Varview), SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1476411589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:25100322
(GRCh38)
15:25345469
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25100321:A:C
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1476390612 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25101091
(GRCh38)
15:25346238
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25101090:A:G
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
14.
rs1475644860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:25101859
(GRCh38)
15:25347006
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25101858:T:C
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1475604331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25100466
(GRCh38)
15:25345613
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25100465:A:G
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1474440688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25101188
(GRCh38)
15:25346335
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25101187:A:G
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00016/1
(1000Genomes)
- HGVS:
18.
rs1474100892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:25100066
(GRCh38)
15:25345213
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25100065:T:C
- Gene:
- SNORD116-26 (Varview), SNORD116-27 (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:
C=0.000285/4
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
19.
rs1474064827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:25101805
(GRCh38)
15:25346952
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25101804:A:G
- Gene:
- SNORD116-27 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000071/1
(TOMMO)
- HGVS:
20.
rs1473968843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:25100909
(GRCh38)
15:25346056
(GRCh37)
- Canonical SPDI:
- NC_000015.10:25100908:T:G
- Gene:
- SNORD116-27 (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)
G=0.000468/3
(1000Genomes)
- HGVS: