Links from Gene
Items: 1 to 20 of 708
1.
rs1490570215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:118277598
(GRCh38)
4:119198753
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118277597:T:A
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- upstream_transcript_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:
3.
rs1489282664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:118278272
(GRCh38)
4:119199427
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118278271:T:A
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1486373607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:118278123
(GRCh38)
4:119199278
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118278122:T:C
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1484619902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:118279627
(GRCh38)
4:119200782
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118279626:A:G
- Gene:
- PRSS12 (Varview), SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1484546776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:118278738
(GRCh38)
4:119199893
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118278737:C:A
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- upstream_transcript_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:
7.
rs1484340102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:118279071
(GRCh38)
4:119200226
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118279070:C:T
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000162/3
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000043/6
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
9.
rs1479763447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:118277317
(GRCh38)
4:119198472
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118277316:T:C
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000043/6
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
10.
rs1479635407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:118277304
(GRCh38)
4:119198459
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118277303:A:T
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
11.
rs1477809791 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 4:118277884
(GRCh38)
4:119199040
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118277884:GG:GGG
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1477701558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:118278264
(GRCh38)
4:119199419
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118278263:C:G,NC_000004.12:118278263:C:T
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1476340484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:118277700
(GRCh38)
4:119198855
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118277699:T:C
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000043/6
(GnomAD)
- HGVS:
14.
rs1475087214 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 4:118278695
(GRCh38)
4:119199850
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118278694:G:
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1474676409 has merged into rs986802607 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TTT
[Show Flanks]
- Chromosome:
- 4:118279611
(GRCh38)
4:119200766
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118279607:TTTTTTT:TTT,NC_000004.12:118279607:TTTTTTT:TTTT,NC_000004.12:118279607:TTTTTTT:TTTTTT
- Gene:
- PRSS12 (Varview), SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
16.
rs1472916007 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCTTGAGCCGATT
[Show Flanks]
- Chromosome:
- 4:118277351
(GRCh38)
4:119198507
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118277351:GATT:GATTGCTTGAGCCGATT
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GATTGCTTGAGCCGATT=0.000224/1
(
ALFA)
GATTGCTTGAGCC=0.000007/1
(GnomAD)
GATTGCTTGAGCC=0.000223/1
(Estonian)
- HGVS:
17.
rs1471526400 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:118277547
(GRCh38)
4:119198702
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118277546:G:A
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
18.
rs1469543297 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:118278972
(GRCh38)
4:119200127
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118278971:A:T
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000064/9
(GnomAD)
- HGVS:
19.
rs1469096798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:118279383
(GRCh38)
4:119200538
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118279382:T:G
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1468673591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:118277411
(GRCh38)
4:119198566
(GRCh37)
- Canonical SPDI:
- NC_000004.12:118277410:C:G
- Gene:
- SNORA24 (Varview), SNHG8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000015/2
(GnomAD)
- HGVS: