Links from Gene
Items: 1 to 20 of 1367
1.
rs1490452550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:8252853
(GRCh38)
20:8233499
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8252852:C:T
- Gene:
- PLCB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1489258884 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TCAGTGTAGG>-
[Show Flanks]
- Chromosome:
- 20:8246629
(GRCh38)
20:8227276
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8246628:TCAGTGTAGG:
- Gene:
- PLCB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1487831277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:8249352
(GRCh38)
20:8229999
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8249351:A:G
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
5.
rs1486607982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:8248066
(GRCh38)
20:8228713
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8248065:G:A
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1486214115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:8250360
(GRCh38)
20:8231007
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8250359:T:C
- Gene:
- PLCB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1484744888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:8246776
(GRCh38)
20:8227423
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8246775:T:C
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (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)
- HGVS:
10.
rs1484165141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:8248181
(GRCh38)
20:8228828
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8248180:G:A
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_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:
11.
rs1484155023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:8247056
(GRCh38)
20:8227703
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8247055:G:A
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1483683462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:8248032
(GRCh38)
20:8228679
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8248031:G:C
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (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)
- HGVS:
13.
rs1483590272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:8246895
(GRCh38)
20:8227542
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8246894:A:G
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_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)
G=0.000849/14
(TOMMO)
- HGVS:
14.
rs1483185440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:8247653
(GRCh38)
20:8228300
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8247652:C:A
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1483175798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:8246496
(GRCh38)
20:8227143
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8246495:A:G
- Gene:
- PLCB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1483037647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:8249089
(GRCh38)
20:8229736
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8249088:C:T
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
17.
rs1482944567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:8247922
(GRCh38)
20:8228569
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8247921:T:G
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1482557329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:8248678
(GRCh38)
20:8229325
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8248677:G:C
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (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)
- HGVS:
19.
rs1481945159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:8250448
(GRCh38)
20:8231095
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8250447:G:C
- Gene:
- PLCB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1481341969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:8249196
(GRCh38)
20:8229843
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8249195:A:G
- Gene:
- PLCB1 (Varview), PLCB1-IT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS: