Links from Gene
Items: 1 to 20 of 469
1.
rs1488045849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:20326500
(GRCh38)
14:20794659
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20326499:T:G
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- non_coding_transcript_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:
2.
rs1481531666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20326369
(GRCh38)
14:20794528
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20326368:G:A
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_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.
rs1476511422 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,GATA
[Show Flanks]
- Chromosome:
- 14:20327968
(GRCh38)
14:20796128
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20327968::G,NC_000014.9:20327968::GATA
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GATA=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
4.
rs1474564206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:20328234
(GRCh38)
14:20796393
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20328233:T:G
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1474459877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:20327128
(GRCh38)
14:20795287
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20327127:C:A
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.000042/11
(TOPMED)
- HGVS:
6.
rs1474183557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:20327262
(GRCh38)
14:20795421
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20327261:G:A,NC_000014.9:20327261:G:T
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1474090130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:20327776
(GRCh38)
14:20795935
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20327775:T:G
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1473369461 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 14:20328516
(GRCh38)
14:20796675
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20328515:GG:G
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
9.
rs1470233135 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 14:20327994
(GRCh38)
14:20796153
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20327992:ATA:A
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1468873006 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 14:20327304
(GRCh38)
14:20795463
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20327303:G:
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
11.
rs1465071263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:20326767
(GRCh38)
14:20794926
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20326766:G:C
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1463381767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20326628
(GRCh38)
14:20794787
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20326627:C:T
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1462347910 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20326012
(GRCh38)
14:20794171
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20326011:A:G
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1461402037 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAAG>-
[Show Flanks]
- Chromosome:
- 14:20328499
(GRCh38)
14:20796658
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20328495:AAGCAAG:AAG
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
-=0.000156/1
(1000Genomes)
- HGVS:
15.
rs1461320438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:20327115
(GRCh38)
14:20795274
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20327114:A:C
- Gene:
- CCNB1IP1 (Varview), SNORD126 (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:
16.
rs1461277923 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20328070
(GRCh38)
14:20796229
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20328069:A:G
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
17.
rs1460874020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:20328045
(GRCh38)
14:20796204
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20328044:G:C
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
18.
rs1460858105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20328264
(GRCh38)
14:20796423
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20328263:T:C
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
19.
rs1455690452 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:20328106
(GRCh38)
14:20796265
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20328104:TAT:T
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1455059781 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20326603
(GRCh38)
14:20794762
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20326602:G:A
- Gene:
- CCNB1IP1 (Varview), SNORD126 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS: