Links from Gene
Items: 1 to 20 of 2002
1.
rs1491261132 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 1:28582607
(GRCh38)
1:28909119
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28582606:TTTTTT:TTTTT,NC_000001.11:28582606:TTTTTT:TTTTTTT
- Gene:
- SNHG12 (Varview), SNORA16A (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.000042/11
(TOPMED)
- HGVS:
2.
rs1491171210 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:28580435
(GRCh38)
1:28906948
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28580435::C
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview), SNORD99 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
3.
rs1491154416 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:28582606
(GRCh38)
1:28909118
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28582605:CT:
- Gene:
- SNHG12 (Varview), SNORA16A (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490872012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 1:28583502
(GRCh38)
1:28910014
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28583501:C:A,NC_000001.11:28583501:C:G,NC_000001.11:28583501:C:T
- Gene:
- SNHG12 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000037/5
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
5.
rs1490390826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:28584387
(GRCh38)
1:28910899
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28584386:T:C
- Gene:
- SNHG12 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490249926 has merged into rs1198375987 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 1:28584033
(GRCh38)
1:28910545
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28584032:AAAAAAA:AAAAAA,NC_000001.11:28584032:AAAAAAA:AAAAAAAA
- Gene:
- SNHG12 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489496477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:28581672
(GRCh38)
1:28908184
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28581671:G:T
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
8.
rs1488713446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 1:28580633
(GRCh38)
1:28907145
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28580632:T:A,NC_000001.11:28580632:T:C,NC_000001.11:28580632:T:G
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview), SNORD99 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.28580633T>A, NC_000001.11:g.28580633T>C, NC_000001.11:g.28580633T>G, NC_000001.10:g.28907145T>A, NC_000001.10:g.28907145T>C, NC_000001.10:g.28907145T>G, NR_024127.2:n.417A>T, NR_024127.2:n.417A>G, NR_024127.2:n.417A>C, NR_024127.1:n.398A>T, NR_024127.1:n.398A>G, NR_024127.1:n.398A>C, NR_146382.1:n.1027A>T, NR_146382.1:n.1027A>G, NR_146382.1:n.1027A>C, NR_146381.1:n.434A>T, NR_146381.1:n.434A>G, NR_146381.1:n.434A>C, NR_146384.1:n.417A>T, NR_146384.1:n.417A>G, NR_146384.1:n.417A>C, NR_146387.1:n.298A>T, NR_146387.1:n.298A>G, NR_146387.1:n.298A>C, NR_146385.1:n.298A>T, NR_146385.1:n.298A>G, NR_146385.1:n.298A>C, NR_146386.1:n.434A>T, NR_146386.1:n.434A>G, NR_146386.1:n.434A>C, NR_146383.1:n.417A>T, NR_146383.1:n.417A>G, NR_146383.1:n.417A>C, NM_053040.1:c.-60A>T, NM_053040.1:c.-60A>G, NM_053040.1:c.-60A>C
9.
rs1488441394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:28580916
(GRCh38)
1:28907428
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28580915:A:G
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1488400393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:28581640
(GRCh38)
1:28908152
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28581639:G:A
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.28581640G>A, NC_000001.10:g.28908152G>A, NR_024127.2:n.234C>T, NR_024127.1:n.215C>T, NR_146381.1:n.234C>T, NR_146384.1:n.234C>T, NR_146387.1:n.234C>T, NR_146385.1:n.234C>T, NR_146386.1:n.234C>T, NR_146383.1:n.234C>T, NM_053040.1:c.-242C>T
12.
rs1488188790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:28582237
(GRCh38)
1:28908749
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28582236:G:C
- Gene:
- SNHG12 (Varview), SNORA44 (Varview), SNORA16A (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000342/1
(KOREAN)
C=0.001557/26
(TOMMO)
- HGVS:
13.
rs1487874492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:28579077
(GRCh38)
1:28905589
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28579076:T:C
- Gene:
- SNHG12 (Varview), SNORD99 (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=0.000034/9
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
14.
rs1487797699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:28583356
(GRCh38)
1:28909868
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28583355:A:C
- Gene:
- SNHG12 (Varview)
- Functional Consequence:
- 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:
15.
rs1487697448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:28582547
(GRCh38)
1:28909059
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28582546:T:C
- Gene:
- SNHG12 (Varview), SNORA16A (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486547236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:28578943
(GRCh38)
1:28905455
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28578942:T:C
- Gene:
- TRNAU1AP (Varview), SNHG12 (Varview), SNORD99 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
18.
rs1486396181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:28578995
(GRCh38)
1:28905507
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28578994:A:G
- Gene:
- TRNAU1AP (Varview), SNHG12 (Varview), SNORD99 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.0002/1
(
ALFA)
G=0.0002/1
(Estonian)
- HGVS:
19.
rs1486205133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 1:28579375
(GRCh38)
1:28905887
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28579374:T:A,NC_000001.11:28579374:T:G
- Gene:
- SNHG12 (Varview), SNORA61 (Varview), SNORD99 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000062/1
(
ALFA)
G=0.000004/1
(TOPMED)
A=0.000248/7
(TOMMO)
- HGVS:
20.
rs1485433358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:28578661
(GRCh38)
1:28905173
(GRCh37)
- Canonical SPDI:
- NC_000001.11:28578660:T:C
- Gene:
- TRNAU1AP (Varview), SNHG12 (Varview), SNORD99 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.28578661T>C, NC_000001.10:g.28905173T>C, NR_024127.2:n.635A>G, NR_024127.1:n.616A>G, NR_146382.1:n.1245A>G, NR_146381.1:n.976A>G, NR_146384.1:n.959A>G, NR_146387.1:n.840A>G, NR_146385.1:n.651A>G, NR_146386.1:n.622A>G, NR_146383.1:n.605A>G, NM_053040.1:c.159A>G