Links from Gene
Items: 1 to 20 of 626
1.
rs1490013586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100968191
(GRCh38)
14:101434528
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100968190:T:C
- Gene:
- MEG8 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview), SNORD114-13 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000005/1
(GnomAD_exomes)
- HGVS:
2.
rs1489186918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:100967035
(GRCh38)
14:101433372
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100967034:G:A
- Gene:
- MEG8 (Varview), SNORD114-10 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.0011/5
(
ALFA)
A=0.0013/6
(Estonian)
- HGVS:
3.
rs1489011319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 14:100968253
(GRCh38)
14:101434590
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100968252:T:C,NC_000014.9:100968252:T:G
- Gene:
- MEG8 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview), SNORD114-13 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1489004578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:100967716
(GRCh38)
14:101434053
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100967715:A:G
- Gene:
- MEG8 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
5.
rs1488352421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:100968608
(GRCh38)
14:101434945
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100968607:C:A
- Gene:
- MEG8 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview), SNORD114-13 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1484906357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:100966912
(GRCh38)
14:101433249
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100966911:C:A
- Gene:
- MEG8 (Varview), SNORD114-10 (Varview), SNORD114-11 (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:
8.
rs1484244972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:100968021
(GRCh38)
14:101434358
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100968020:A:C
- Gene:
- MEG8 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview), SNORD114-13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1483379905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100966466
(GRCh38)
14:101432803
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100966465:T:C
- Gene:
- MEG8 (Varview), SNORD114-9 (Varview), SNORD114-10 (Varview), SNORD114-11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
10.
rs1482973206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:100967783
(GRCh38)
14:101434120
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100967782:C:T
- Gene:
- MEG8 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
11.
rs1482625894 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100968257
(GRCh38)
14:101434594
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100968256:T:C
- Gene:
- MEG8 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview), SNORD114-13 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1480586496 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 14:100968141
(GRCh38)
14:101434478
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100968139:GAG:G
- Gene:
- MEG8 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview), SNORD114-13 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1480032977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:100966346
(GRCh38)
14:101432683
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100966345:G:A
- Gene:
- MEG8 (Varview), SNORD114-9 (Varview), SNORD114-10 (Varview), SNORD114-11 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1478381300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:100966861
(GRCh38)
14:101433198
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100966860:G:A
- Gene:
- MEG8 (Varview), SNORD114-10 (Varview), SNORD114-11 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1477727194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:100967790
(GRCh38)
14:101434127
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100967789:G:A
- Gene:
- MEG8 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
16.
rs1475305139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:100967065
(GRCh38)
14:101433402
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100967064:A:T
- Gene:
- MEG8 (Varview), SNORD114-10 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1474412410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:100966989
(GRCh38)
14:101433326
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100966988:G:T
- Gene:
- MEG8 (Varview), SNORD114-10 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1473297885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 14:100968135
(GRCh38)
14:101434472
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100968134:T:C,NC_000014.9:100968134:T:G
- Gene:
- MEG8 (Varview), SNORD114-11 (Varview), SNORD114-12 (Varview), SNORD114-13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1472798791 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TCTGGGCCAGTAGCAAGATTGAAATTGTTCATTTTCTTAACA>-
[Show Flanks]
- Chromosome:
- 14:100966434
(GRCh38)
14:101432771
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100966433:TCTGGGCCAGTAGCAAGATTGAAATTGTTCATTTTCTTAACA:
- Gene:
- MEG8 (Varview), SNORD114-9 (Varview), SNORD114-10 (Varview), SNORD114-11 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000094/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1472641071 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 14:100966551
(GRCh38)
14:101432888
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100966550:G:
- Gene:
- MEG8 (Varview), SNORD114-9 (Varview), SNORD114-10 (Varview), SNORD114-11 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS: