Links from Gene
Items: 1 to 20 of 574
1.
rs1491163157 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 8:54330917
(GRCh38)
8:55243477
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54330915:ACA:A
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
-=0.000029/4
(GnomAD)
- HGVS:
2.
rs1491123266 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 8:54330916
(GRCh38)
8:55243477
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54330916::T
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/2
(GnomAD)
- HGVS:
3.
rs1490614849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:54329852
(GRCh38)
8:55242412
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54329851:A:G
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1489911084 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:54331127
(GRCh38)
8:55243687
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54331126:T:C
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
5.
rs1489112122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 8:54331115
(GRCh38)
8:55243675
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54331114:A:C,NC_000008.11:54331114:A:T
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
6.
rs1486834733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:54329024
(GRCh38)
8:55241584
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54329023:A:G
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
8.
rs1485947349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 8:54330072
(GRCh38)
8:55242632
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54330071:C:A
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1483472646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:54330989
(GRCh38)
8:55243549
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54330988:G:A
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1482749708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:54328914
(GRCh38)
8:55241474
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54328913:G:A
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1480980560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:54329985
(GRCh38)
8:55242545
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54329984:C:T
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1480327009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:54330869
(GRCh38)
8:55243429
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54330868:G:A,NC_000008.11:54330868:G:T
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1480315916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:54331213
(GRCh38)
8:55243773
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54331212:G:T
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1479982969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:54331208
(GRCh38)
8:55243768
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54331207:T:A
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1479481959 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 8:54329994
(GRCh38)
8:55242555
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54329994::C
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1479344988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:54330473
(GRCh38)
8:55243033
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54330472:A:G
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
17.
rs1472151731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:54329425
(GRCh38)
8:55241985
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54329424:A:G
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1470611032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:54330110
(GRCh38)
8:55242670
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54330109:A:T
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1466938577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 8:54330490
(GRCh38)
8:55243050
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54330489:T:A,NC_000008.11:54330489:T:C
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000132/2
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
20.
rs1463080822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:54329292
(GRCh38)
8:55241852
(GRCh37)
- Canonical SPDI:
- NC_000008.11:54329291:T:A
- Gene:
- RNU105C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: