Links from Gene
Items: 1 to 20 of 1978
1.
rs1490989611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:61205171
(GRCh38)
11:60972643
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61205170:C:T
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- 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:
2.
rs1490708528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:61205056
(GRCh38)
11:60972528
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61205055:G:A,NC_000011.10:61205055:G:C
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00018/3
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000442/62
(GnomAD)
- HGVS:
3.
rs1490406913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:61207603
(GRCh38)
11:60975075
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61207602:C:T
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00028/26
(GnomAD)
- HGVS:
4.
rs1490243993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:61204060
(GRCh38)
11:60971532
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61204059:G:A
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
A=0.00003/1
(GnomAD_exomes)
A=0.00006/5
(GnomAD)
A=0.00007/1
(TOMMO)
- HGVS:
5.
rs1489844835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:61205517
(GRCh38)
11:60972989
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61205516:C:T
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000036/5
(GnomAD)
T=0.000142/2
(TOMMO)
T=0.000156/1
(1000Genomes)
T=0.000684/2
(KOREAN)
T=0.001092/2
(Korea1K)
- HGVS:
6.
rs1489793601 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:61206145
(GRCh38)
11:60973617
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61206144:G:A
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00003/3
(GnomAD)
- HGVS:
7.
rs1489726489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:61202215
(GRCh38)
11:60969687
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61202214:C:T
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
8.
rs1489673584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:61203511
(GRCh38)
11:60970983
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61203510:C:G
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
9.
rs1489619722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:61207309
(GRCh38)
11:60974781
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61207308:A:G
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
- HGVS:
10.
rs1489558423 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 11:61211492
(GRCh38)
11:60978964
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61211491:TT:T
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000084/1
(
ALFA)
-=0.000015/2
(GnomAD)
-=0.000142/2
(TOMMO)
- HGVS:
12.
rs1488824810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:61202957
(GRCh38)
11:60970429
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61202956:C:G
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000337/4
(
ALFA)
G=0.000064/9
(GnomAD)
G=0.000071/1
(TOMMO)
G=0.000312/2
(1000Genomes)
G=0.000342/1
(KOREAN)
- HGVS:
14.
rs1488574182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:61212415
(GRCh38)
11:60979887
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61212414:G:A
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00042/5
(
ALFA)
A=0.00021/3
(TOMMO)
A=0.00221/4
(KOREAN)
- HGVS:
15.
rs1488503574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:61204472
(GRCh38)
11:60971944
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61204471:C:T
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488360994 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:61207190
(GRCh38)
11:60974662
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61207189:G:A
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
A=0.00031/2
(1000Genomes)
A=0.00039/39
(GnomAD)
- HGVS:
18.
rs1488107916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 11:61202293
(GRCh38)
11:60969765
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61202292:T:A,NC_000011.10:61202292:T:G
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00003/8
(TOPMED)
- HGVS:
19.
rs1488072575 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:61204953
(GRCh38)
11:60972425
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61204952:T:C
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000169/2
(
ALFA)
C=0.000064/9
(GnomAD)
C=0.000389/7
(TOMMO)
C=0.000625/4
(1000Genomes)
C=0.001092/2
(Korea1K)
T=0.5/1
(SGDP_PRJ)
- HGVS:
20.
rs1487857574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:61205071
(GRCh38)
11:60972543
(GRCh37)
- Canonical SPDI:
- NC_000011.10:61205070:C:G,NC_000011.10:61205070:C:T
- Gene:
- PGA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: