Links from Gene
Items: 1 to 20 of 618
1.
rs1490342748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:100940516
(GRCh38)
14:101406853
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100940515:T:G
- Gene:
- MEG8 (Varview), SNORD113-7 (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:
2.
rs1489255534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 14:100941008
(GRCh38)
14:101407345
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100941006:ATA:A
- Gene:
- MEG8 (Varview), SNORD113-7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1487618597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100941520
(GRCh38)
14:101407857
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100941519:T:C
- Gene:
- MEG8 (Varview), SNORD113-7 (Varview), SNORD113-8 (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=0.000004/1
(TOPMED)
- HGVS:
6.
rs1485532067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 14:100939640
(GRCh38)
14:101405977
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100939639:A:G,NC_000014.9:100939639:A:T
- Gene:
- MEG8 (Varview), SNORD113-6 (Varview), SNORD113-7 (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:
T=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1483140044 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:100940496
(GRCh38)
14:101406833
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100940495:A:G
- Gene:
- MEG8 (Varview), SNORD113-7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1482137132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100941488
(GRCh38)
14:101407825
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100941487:T:C
- Gene:
- MEG8 (Varview), SNORD113-7 (Varview), SNORD113-8 (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=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
9.
rs1480115740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:100939568
(GRCh38)
14:101405905
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100939567:G:T
- Gene:
- MEG8 (Varview), SNORD113-6 (Varview), SNORD113-7 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1479162639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:100939227
(GRCh38)
14:101405564
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100939226:G:A
- Gene:
- MEG8 (Varview), SNORD113-6 (Varview), SNORD113-7 (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:
12.
rs1476842942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:100940488
(GRCh38)
14:101406825
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100940487:A:T
- Gene:
- MEG8 (Varview), SNORD113-7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1472289596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100940896
(GRCh38)
14:101407233
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100940895:T:C
- Gene:
- MEG8 (Varview), SNORD113-7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1470015591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:100939526
(GRCh38)
14:101405863
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100939525:T:C
- Gene:
- MEG8 (Varview), SNORD113-6 (Varview), SNORD113-7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1469538934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:100939680
(GRCh38)
14:101406017
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100939679:G:T
- Gene:
- MEG8 (Varview), SNORD113-6 (Varview), SNORD113-7 (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:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1467251749 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GACA>-
[Show Flanks]
- Chromosome:
- 14:100941004
(GRCh38)
14:101407341
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100941000:ACAGACA:ACA
- Gene:
- MEG8 (Varview), SNORD113-7 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0.000142/2
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.000064/9
(GnomAD)
- HGVS:
18.
rs1466672177 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 14:100941207
(GRCh38)
14:101407544
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100941206:T:A,NC_000014.9:100941206:T:C
- Gene:
- MEG8 (Varview), SNORD113-7 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1464131798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:100941301
(GRCh38)
14:101407638
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100941300:A:C
- Gene:
- MEG8 (Varview), SNORD113-7 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1462518097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:100939378
(GRCh38)
14:101405715
(GRCh37)
- Canonical SPDI:
- NC_000014.9:100939377:A:C
- Gene:
- MEG8 (Varview), SNORD113-6 (Varview), SNORD113-7 (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: