Links from Gene
Items: 1 to 20 of 769
1.
rs1490738759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 1:39568778
(GRCh38)
1:40034450
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39568777:T:A,NC_000001.11:39568777:T:C,NC_000001.11:39568777:T:G
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (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=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490249816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:39567366
(GRCh38)
1:40033038
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39567365:C:A
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1489447341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:39566880
(GRCh38)
1:40032552
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39566879:T:C
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00006/1
(TOMMO)
- HGVS:
4.
rs1489265772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:39568494
(GRCh38)
1:40034166
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39568493:G:A
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- intron_variant,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:
5.
rs1488415736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:39567481
(GRCh38)
1:40033153
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39567480:C:A
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.0002/1
(
ALFA)
A=0.0002/1
(Estonian)
- HGVS:
7.
rs1485092742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:39568546
(GRCh38)
1:40034218
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39568545:C:G
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1484665269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:39569199
(GRCh38)
1:40034871
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39569198:A:G
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1484609447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:39568218
(GRCh38)
1:40033890
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39568217:C:T
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1484301240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:39567080
(GRCh38)
1:40032752
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39567079:G:A
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1483121119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:39567889
(GRCh38)
1:40033561
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39567888:A:C
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_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:
13.
rs1481163288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:39567864
(GRCh38)
1:40033536
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39567863:C:G
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1480998728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:39568400
(GRCh38)
1:40034072
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39568399:C:T
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1480948238 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACT>-
[Show Flanks]
- Chromosome:
- 1:39567643
(GRCh38)
1:40033315
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39567640:CTACT:CT
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
16.
rs1477298121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:39567223
(GRCh38)
1:40032895
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39567222:T:G
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1475077785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:39568727
(GRCh38)
1:40034399
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39568726:C:G,NC_000001.11:39568726:C:T
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
19.
rs1472200805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:39568371
(GRCh38)
1:40034043
(GRCh37)
- Canonical SPDI:
- NC_000001.11:39568370:G:T
- Gene:
- PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: