Links from Gene
Items: 1 to 20 of 606
1.
rs1490227633 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100924225
(GRCh38)
14:101390562
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100924224:T:C
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1489681468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:100923852
(GRCh38)
14:101390189
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100923851:C:G
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_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.
rs1485731770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:100924489
(GRCh38)
14:101390826
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100924488:A:T
- Gene:
- MEG8 (Varview), SNORD113-1 (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=0.000035/1
(TOMMO)
T=0.00006/16
(TOPMED)
- HGVS:
4.
rs1483330543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:100923892
(GRCh38)
14:101390229
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100923891:A:T
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
5.
rs1482497833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:100922949
(GRCh38)
14:101389286
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100922948:A:C
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1481635555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:100923922
(GRCh38)
14:101390259
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100923921:T:A
- Gene:
- MEG8 (Varview), SNORD113-1 (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:
7.
rs1480654487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:100923583
(GRCh38)
14:101389920
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100923582:A:G
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1480264076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 14:100925126
(GRCh38)
14:101391463
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100925122:ATATA:ATA
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
9.
rs1478514008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:100924334
(GRCh38)
14:101390671
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100924333:T:A
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1478381331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100925249
(GRCh38)
14:101391586
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100925248:T:C
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1477677219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:100923486
(GRCh38)
14:101389823
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100923485:A:G
- Gene:
- MEG8 (Varview), SNORD113-1 (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:
12.
rs1477115190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 14:100924779
(GRCh38)
14:101391116
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100924778:A:G,NC_000014.9:100924778:A:T
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000005/1
(GnomAD_exomes)
- HGVS:
13.
rs1476958906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:100924092
(GRCh38)
14:101390429
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100924091:A:G
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000036/5
(GnomAD)
G=0.000049/13
(TOPMED)
- HGVS:
14.
rs1476651106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100923137
(GRCh38)
14:101389474
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100923136:T:C
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1474423549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100924213
(GRCh38)
14:101390550
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100924212:T:C
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1474358827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:100923334
(GRCh38)
14:101389671
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100923333:A:G
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1472107079 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:100924647
(GRCh38)
14:101390984
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100924646:G:T
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
18.
rs1471819847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:100923083
(GRCh38)
14:101389420
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100923082:T:A
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
19.
rs1471231797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100923060
(GRCh38)
14:101389397
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100923059:T:C
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1470279688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:100923206
(GRCh38)
14:101389543
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100923205:G:T
- Gene:
- MEG8 (Varview), SNORD113-1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS: