Links from Gene
Items: 1 to 20 of 1000
1.
rs1490930478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:43854125
(GRCh38)
6:43821862
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43854124:T:C
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
2.
rs1490617815 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:43844971
(GRCh38)
6:43812708
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43844970:C:T
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
- HGVS:
3.
rs1490561427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:43846039
(GRCh38)
6:43813776
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43846038:G:A,NC_000006.12:43846038:G:T
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490322245 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGGAAGAGACAGAGAGATAGAGACAGAGA>-
[Show Flanks]
- Chromosome:
- 6:43844471
(GRCh38)
6:43812208
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43844458:TAGAGACAGAGAGAGGAAGAGACAGAGAGATAGAGACAGAGA:TAGAGACAGAGA
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAGAGACAGAGA=0.000084/1
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
5.
rs1490218668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:43852563
(GRCh38)
6:43820300
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43852562:T:C
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
6.
rs1490202986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:43851645
(GRCh38)
6:43819382
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43851644:G:A
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490051771 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:43846767
(GRCh38)
6:43814504
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43846766:G:A
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489888942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 6:43845733
(GRCh38)
6:43813470
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43845732:G:C,NC_000006.12:43845732:G:T
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
9.
rs1488967340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 6:43848495
(GRCh38)
6:43816232
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43848494:C:A,NC_000006.12:43848494:C:T
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1488713379 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:43849413
(GRCh38)
6:43817150
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43849412:C:T
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
12.
rs1487742054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:43854194
(GRCh38)
6:43821931
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43854193:A:G
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,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:
13.
rs1487389450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:43853747
(GRCh38)
6:43821484
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43853746:G:T
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1486691486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 6:43849945
(GRCh38)
6:43817682
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43849944:C:A,NC_000006.12:43849944:C:T
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
15.
rs1486128594 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:43849104
(GRCh38)
6:43816841
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43849103:C:A
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1485712832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:43849433
(GRCh38)
6:43817170
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43849432:T:C
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
18.
rs1485544489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:43845978
(GRCh38)
6:43813715
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43845977:G:A
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.000223/1
(Estonian)
- HGVS:
19.
rs1485415706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:43852133
(GRCh38)
6:43819870
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43852132:G:A
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1484712735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 6:43848998
(GRCh38)
6:43816735
(GRCh37)
- Canonical SPDI:
- NC_000006.12:43848997:T:C,NC_000006.12:43848997:T:G
- Gene:
- POLR1C (Varview), LINC02537 (Varview), LOC105375070 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: