Links from Gene
Items: 1 to 20 of 2319
1.
rs1490552821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:31948884
(GRCh38)
20:30536687
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31948883:T:G
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- splice_acceptor_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1490431062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:31948179
(GRCh38)
20:30535982
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31948178:T:C
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490340530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 20:31953489
(GRCh38)
20:30541292
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31953488:C:G,NC_000020.11:31953488:C:T
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
4.
rs1489731121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:31953351
(GRCh38)
20:30541154
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31953350:T:G
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- 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:
5.
rs1489520007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:31950983
(GRCh38)
20:30538786
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31950982:G:A
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1488798785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:31946290
(GRCh38)
20:30534093
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31946289:T:C
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
- HGVS:
7.
rs1488366799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:31953592
(GRCh38)
20:30541395
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31953591:A:G
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
9.
rs1487254605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:31947837
(GRCh38)
20:30535640
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31947836:C:A
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
10.
rs1487162118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:31946752
(GRCh38)
20:30534555
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31946751:A:G
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1486878853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:31945430
(GRCh38)
20:30533233
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31945429:C:T
- Gene:
- PDRG1 (Varview), TTLL9 (Varview)
- Functional Consequence:
- 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1486735953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:31944540
(GRCh38)
20:30532343
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31944539:C:T
- Gene:
- PDRG1 (Varview), TTLL9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
NC_000020.11:g.31944540C>T, NC_000020.10:g.30532343C>T, NM_001008409.5:c.*1519C>T, NM_001008409.4:c.*1519C>T, NM_001008409.3:c.*1519C>T, NR_134519.4:n.2418C>T, NR_134519.3:n.2418C>T, NR_134519.2:n.2415C>T, NR_134519.1:n.2350C>T, NR_148011.3:n.3555C>T, NR_148011.2:n.3555C>T, NR_148011.1:n.3552C>T, NR_148014.3:n.2468C>T, NR_148014.2:n.2468C>T, NR_148014.1:n.2465C>T, NR_148012.3:n.2327C>T, NR_148012.2:n.2327C>T, NR_148012.1:n.2324C>T, NR_148013.3:n.2270C>T, NR_148013.2:n.2270C>T, NR_148013.1:n.2267C>T, NR_148010.3:n.2006C>T, NR_148010.2:n.2006C>T, NR_148010.1:n.2003C>T, NM_030815.3:c.*1267G>A, NM_001367620.2:c.*1519C>T, NM_001367620.1:c.*1519C>T, NR_160276.2:n.2006C>T, NR_160276.1:n.2006C>T, NR_160277.2:n.1768C>T, NR_160277.1:n.1768C>T
13.
rs1486661538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:31951845
(GRCh38)
20:30539648
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31951844:A:C
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1486515848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:31948435
(GRCh38)
20:30536238
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31948434:T:C
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1486464432 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAATGTCTCAGA>-
[Show Flanks]
- Chromosome:
- 20:31947382
(GRCh38)
20:30535185
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31947379:GATAATGTCTCAGA:GA
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
16.
rs1485658984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 20:31946280
(GRCh38)
20:30534083
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31946279:G:A,NC_000020.11:31946279:G:C
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1485149878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:31952557
(GRCh38)
20:30540360
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31952556:G:T
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
18.
rs1484951956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:31949888
(GRCh38)
20:30537691
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31949887:T:C
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
19.
rs1484724956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 20:31952195
(GRCh38)
20:30539998
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31952194:T:A,NC_000020.11:31952194:T:G
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1484516185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:31946392
(GRCh38)
20:30534195
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31946391:G:A
- Gene:
- PDRG1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS: