Links from Gene
Items: 1 to 20 of 1595
1.
rs1491053904 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 22:46054324
(GRCh38)
22:46450204
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46054323:GT:
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1489681820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:46055091
(GRCh38)
22:46450971
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46055090:A:G
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
4.
rs1489196496 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:46054702
(GRCh38)
22:46450582
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46054701:C:T
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
5.
rs1488925682 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:46054883
(GRCh38)
22:46450763
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46054882:G:C
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
- HGVS:
6.
rs1488874026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:46053025
(GRCh38)
22:46448905
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46053024:A:G
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
7.
rs1488787118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 22:46054818
(GRCh38)
22:46450698
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46054817:A:C
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1488514140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:46055861
(GRCh38)
22:46451741
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46055860:C:T
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
10.
rs1487716818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46053444
(GRCh38)
22:46449324
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46053443:G:A
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000026/7
(TOPMED)
- HGVS:
11.
rs1487458225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 22:46054272
(GRCh38)
22:46450152
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46054271:A:C,NC_000022.11:46054271:A:G,NC_000022.11:46054271:A:T
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD)
G=0.000248/4
(TOMMO)
- HGVS:
12.
rs1487334840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:46053894
(GRCh38)
22:46449774
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46053893:C:A,NC_000022.11:46053893:C:T
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_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:
14.
rs1487181485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:46051468
(GRCh38)
22:46447348
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46051467:G:A,NC_000022.11:46051467:G:T
- Gene:
- PRR34 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486351386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46050827
(GRCh38)
22:46446707
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46050826:G:A
- Gene:
- PRR34 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
18.
rs1485734113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:46050699
(GRCh38)
22:46446579
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46050698:C:T
- Gene:
- PRR34 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1485606145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:46054611
(GRCh38)
22:46450491
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46054610:C:T
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000425/7
(TOMMO)
- HGVS:
20.
rs1484993762 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 22:46053651
(GRCh38)
22:46449531
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46053650:GGGG:GGG
- Gene:
- PRR34 (Varview), PRR34-AS1 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS: