Links from Gene
Items: 1 to 20 of 44
1.
rs1487364555 has merged into rs879958305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 13:57152636
(GRCh38)
13:57726770
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57152635:A:C,NC_000013.11:57152635:A:G
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.0154/154
(
ALFA)
G=0.0263/2
(Korea1K)
A=0.0417/2
(SGDP_PRJ)
G=0.0556/83
(TOMMO)
G=0.458/131
(KOREAN)
- HGVS:
3.
rs1472232847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:57152646
(GRCh38)
13:57726780
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57152645:C:G
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.01981/235
(
ALFA)
C=0./0
(SGDP_PRJ)
- HGVS:
6.
rs1456664739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:57152866
(GRCh38)
13:57727000
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57152865:G:C
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.02228/238
(
ALFA)
C=0.09184/18
(KOREAN)
- HGVS:
8.
rs1419720286 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC,CCC,CCCC,CCCCCCCCCCCCCCC
[Show Flanks]
- Chromosome:
- 13:57152863
(GRCh38)
13:57726997
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57152862:CCC:CC,NC_000013.11:57152862:CCC:CCCC,NC_000013.11:57152862:CCC:CCCCC,NC_000013.11:57152862:CCC:CCCCCC,NC_000013.11:57152862:CCC:CCCCCCCCCCCCCCCCC
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0.01425/169
(
ALFA)
-=0.00231/7
(TOMMO)
- HGVS:
NC_000013.11:g.57152865del, NC_000013.11:g.57152865dup, NC_000013.11:g.57152864_57152865dup, NC_000013.11:g.57152863_57152865dup, NC_000013.11:g.57152865_57152866insCCCCCCCCCCCCCC, NC_000013.10:g.57726999del, NC_000013.10:g.57726999dup, NC_000013.10:g.57726998_57726999dup, NC_000013.10:g.57726997_57726999dup, NC_000013.10:g.57726999_57727000insCCCCCCCCCCCCCC, NG_080001.1:g.311del, NG_080001.1:g.311dup, NG_080001.1:g.310_311dup, NG_080001.1:g.309_311dup, NG_080001.1:g.311_312insCCCCCCCCCCCCCC
9.
rs1409847734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:57152716
(GRCh38)
13:57726850
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57152715:G:T
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0./0
(SGDP_PRJ)
T=0.053/12
(KOREAN)
- HGVS:
10.
rs1409742887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:57152895
(GRCh38)
13:57727029
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57152894:T:C
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.04392/521
(
ALFA)
T=0./0
(SGDP_PRJ)
C=0.01639/2
(Korea1K)
C=0.10658/165
(TOMMO)
C=0.13542/52
(KOREAN)
- HGVS:
12.
rs1374844921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:57152968
(GRCh38)
13:57727102
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57152967:G:A
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.05901/700
(
ALFA)
A=0.00111/2
(TOMMO)
A=0.09343/37
(KOREAN)
- HGVS:
13.
rs1366658639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:57152886
(GRCh38)
13:57727020
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57152885:C:A
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.10934/1297
(
ALFA)
C=0.08333/1
(SGDP_PRJ)
- HGVS:
16.
rs1336167174 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 13:57152890
(GRCh38)
13:57727025
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57152890::AA
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0.00177/21
(
ALFA)
AA=0.00147/2
(TOMMO)
- HGVS:
17.
rs1333454431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:57152955
(GRCh38)
13:57727089
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57152954:C:A
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00497/59
(
ALFA)
C=0./0
(SGDP_PRJ)
A=0.08065/35
(KOREAN)
- HGVS:
18.
rs1311519257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:57153338
(GRCh38)
13:57727472
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57153337:T:C
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.3842/5398
(
ALFA)
T=0./0
(SGDP_PRJ)
- HGVS:
19.
rs1305350309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:57152871
(GRCh38)
13:57727005
(GRCh37)
- Canonical SPDI:
- NC_000013.11:57152870:G:C
- Gene:
- PRR20C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00272/29
(
ALFA)
C=0.105/21
(KOREAN)
- HGVS: