Links from Gene
Items: 1 to 20 of 766
1.
rs1491044166 has merged into rs201901250 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTCTTTTTTTTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:61417726
(GRCh38)
2:61644861
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61417719:TTTTTTTTTTT:TTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTCTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:61417719:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.61417726_61417730del, NC_000002.12:g.61417727_61417730del, NC_000002.12:g.61417728_61417730del, NC_000002.12:g.61417729_61417730del, NC_000002.12:g.61417730del, NC_000002.12:g.61417730dup, NC_000002.12:g.61417720_61417730T[12]CTTTTTTTTTTTT[1], NC_000002.12:g.61417729_61417730dup, NC_000002.12:g.61417726_61417730dup, NC_000002.12:g.61417725_61417730dup, NC_000002.12:g.61417723_61417730dup, NC_000002.12:g.61417722_61417730dup, NC_000002.12:g.61417721_61417730dup, NC_000002.12:g.61417730_61417731insTTTTTTTTTTTTTT, NC_000002.12:g.61417730_61417731insTTTTTTTTTTTTTTT, NC_000002.12:g.61417730_61417731insTTTTTTTTTTTTTTTT, NC_000002.12:g.61417730_61417731insTTTTTTTTTTTTTTTTTT, NC_000002.12:g.61417730_61417731insTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.61417730_61417731insTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.61417730_61417731insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.61417730_61417731insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.61417730_61417731insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.61417730_61417731insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.61644861_61644865del, NC_000002.11:g.61644862_61644865del, NC_000002.11:g.61644863_61644865del, NC_000002.11:g.61644864_61644865del, NC_000002.11:g.61644865del, NC_000002.11:g.61644865dup, NC_000002.11:g.61644855_61644865T[12]CTTTTTTTTTTTT[1], NC_000002.11:g.61644864_61644865dup, NC_000002.11:g.61644861_61644865dup, NC_000002.11:g.61644860_61644865dup, NC_000002.11:g.61644858_61644865dup, NC_000002.11:g.61644857_61644865dup, NC_000002.11:g.61644856_61644865dup, NC_000002.11:g.61644865_61644866insTTTTTTTTTTTTTT, NC_000002.11:g.61644865_61644866insTTTTTTTTTTTTTTT, NC_000002.11:g.61644865_61644866insTTTTTTTTTTTTTTTT, NC_000002.11:g.61644865_61644866insTTTTTTTTTTTTTTTTTT, NC_000002.11:g.61644865_61644866insTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.61644865_61644866insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.61644865_61644866insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.61644865_61644866insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.61644865_61644866insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.61644865_61644866insTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1489207161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:61416832
(GRCh38)
2:61643967
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61416831:A:C,NC_000002.12:61416831:A:G
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00081/15
(
ALFA)
G=0.0036/16
(Estonian)
C=0.00968/62
(1000Genomes)
G=0.03912/114
(KOREAN)
A=0.5/1
(SGDP_PRJ)
- HGVS:
3.
rs1489205081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:61417861
(GRCh38)
2:61644996
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61417860:G:A,NC_000002.12:61417860:G:C
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
C=0.000177/5
(TOMMO)
C=0.000468/3
(1000Genomes)
C=0.014041/41
(KOREAN)
- HGVS:
4.
rs1485145547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:61418237
(GRCh38)
2:61645372
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61418236:G:A
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
5.
rs1485050553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:61419119
(GRCh38)
2:61646254
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61419118:T:C
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
6.
rs1484817477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:61418616
(GRCh38)
2:61645751
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61418615:T:C
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_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)
C=0.000035/1
(TOMMO)
- HGVS:
7.
rs1483516047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 2:61418099
(GRCh38)
2:61645234
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61418098:A:G,NC_000002.12:61418098:A:T
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
- HGVS:
8.
rs1481941839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:61417710
(GRCh38)
2:61644845
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61417709:T:C
- Gene:
- USP34 (Varview), SNORA70B (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:
9.
rs1481194924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:61417981
(GRCh38)
2:61645116
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61417980:T:C,NC_000002.12:61417980:T:G
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
10.
rs1479625705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:61419087
(GRCh38)
2:61646222
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61419086:G:A
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1477570366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 2:61416837
(GRCh38)
2:61643972
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61416836:A:C,NC_000002.12:61416836:A:T
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
C=0.00006/1
(TOMMO)
- HGVS:
12.
rs1476275219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:61417945
(GRCh38)
2:61645080
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61417944:T:C
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
14.
rs1474586445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:61417479
(GRCh38)
2:61644614
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61417478:C:A
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1473831806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:61417261
(GRCh38)
2:61644396
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61417260:C:T
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1471061582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:61418478
(GRCh38)
2:61645613
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61418477:T:C
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,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)
- HGVS:
18.
rs1470777511 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:61418752
(GRCh38)
2:61645887
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61418751:C:G
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1469480918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:61417986
(GRCh38)
2:61645121
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61417985:C:G
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000038/10
(TOPMED)
G=0.000072/10
(GnomAD)
- HGVS:
20.
rs1469457863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 2:61418079
(GRCh38)
2:61645214
(GRCh37)
- Canonical SPDI:
- NC_000002.12:61418078:T:A,NC_000002.12:61418078:T:C
- Gene:
- USP34 (Varview), SNORA70B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000022/3
(GnomAD)
- HGVS: