Links from Gene
Items: 1 to 20 of 538
1.
rs1489814492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:8831402
(GRCh38)
20:8812049
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8831401:C:T
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
2.
rs1487777531 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 20:8829350
(GRCh38)
20:8809997
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8829344:GTGTGTG:GTGTG
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTG=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000029/4
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
3.
rs1485805714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:8830452
(GRCh38)
20:8811099
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8830451:C:A
- Gene:
- PLCB1 (Varview), RNU105B (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:
4.
rs1483624316 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:8831873
(GRCh38)
20:8812520
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8831872:T:C
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1483467245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:8830760
(GRCh38)
20:8811407
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8830759:C:G
- Gene:
- PLCB1 (Varview), RNU105B (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:
6.
rs1479410691 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 20:8829828
(GRCh38)
20:8810475
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8829827:AAA:AA
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
7.
rs1475290011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:8830148
(GRCh38)
20:8810795
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8830147:A:G
- Gene:
- PLCB1 (Varview), RNU105B (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=0.000026/7
(TOPMED)
- HGVS:
8.
rs1474999404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:8831617
(GRCh38)
20:8812264
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8831616:A:C
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1474844828 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 20:8830525
(GRCh38)
20:8811172
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8830524:GG:G
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
10.
rs1474731841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:8831441
(GRCh38)
20:8812088
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8831440:A:G
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1473384381 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:8831380
(GRCh38)
20:8812027
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8831379:T:G
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1471458770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:8829224
(GRCh38)
20:8809871
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8829223:C:G
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1471407968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:8830320
(GRCh38)
20:8810967
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8830319:A:G
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1471018889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:8829885
(GRCh38)
20:8810532
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8829884:T:G
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1467924957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:8831612
(GRCh38)
20:8812259
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8831611:A:G
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1467810873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:8830507
(GRCh38)
20:8811154
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8830506:C:T
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
18.
rs1467102298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:8830776
(GRCh38)
20:8811423
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8830775:T:G
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- intron_variant,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:
19.
rs1465562954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 20:8829494
(GRCh38)
20:8810141
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8829493:T:A
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1462542835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:8830622
(GRCh38)
20:8811269
(GRCh37)
- Canonical SPDI:
- NC_000020.11:8830621:T:C
- Gene:
- PLCB1 (Varview), RNU105B (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: