Links from Gene
Items: 1 to 20 of 1732
1.
rs1490167828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:12672668
(GRCh38)
19:12783482
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12672667:G:A
- Gene:
- DHPS (Varview), WDR83 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
2.
rs1490052682 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:12670538
(GRCh38)
19:12781352
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12670537:C:T
- Gene:
- WDR83OS (Varview), WDR83 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1488888887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12671614
(GRCh38)
19:12782428
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12671613:T:C
- Gene:
- WDR83 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1488623715 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCT>-
[Show Flanks]
- Chromosome:
- 19:12671807
(GRCh38)
19:12782621
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12671804:CTCCT:CT
- Gene:
- WDR83 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
6.
rs1488592306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:12672702
(GRCh38)
19:12783516
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12672701:C:T
- Gene:
- DHPS (Varview), WDR83 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000546/1
(Korea1K)
- HGVS:
7.
rs1488552420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:12672091
(GRCh38)
19:12782905
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12672090:G:T
- Gene:
- DHPS (Varview), WDR83 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1488347609 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAT>-
[Show Flanks]
- Chromosome:
- 19:12671041
(GRCh38)
19:12781855
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12671031:AATAATAATAAT:AATAATAAT
- Gene:
- WDR83OS (Varview), WDR83 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATAATAAT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
9.
rs1487550763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12672551
(GRCh38)
19:12783365
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12672550:T:C
- Gene:
- DHPS (Varview), WDR83 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00062/1
(
ALFA)
C=0.00002/1
(GnomAD_exomes)
- HGVS:
10.
rs1487014732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:12671508
(GRCh38)
19:12782322
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12671507:C:T
- Gene:
- WDR83 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486940560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 19:12669410
(GRCh38)
19:12780224
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12669409:T:C,NC_000019.10:12669409:T:G
- Gene:
- WDR83OS (Varview), WDR83 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.12669410T>C, NC_000019.10:g.12669410T>G, NC_000019.9:g.12780224T>C, NC_000019.9:g.12780224T>G, NG_008318.1:g.2368A>G, NG_008318.1:g.2368A>C, NG_015814.1:g.7607T>C, NG_015814.1:g.7607T>G, NM_016145.4:c.-7A>G, NM_016145.4:c.-7A>C, NM_016145.3:c.-7A>G, NM_016145.3:c.-7A>C
12.
rs1486878897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:12670232
(GRCh38)
19:12781046
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12670231:C:A,NC_000019.10:12670231:C:T
- Gene:
- WDR83OS (Varview), WDR83 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
T=0.000142/2
(TOMMO)
- HGVS:
NC_000019.10:g.12670232C>A, NC_000019.10:g.12670232C>T, NC_000019.9:g.12781046C>A, NC_000019.9:g.12781046C>T, NG_008318.1:g.1546G>T, NG_008318.1:g.1546G>A, NG_015814.1:g.8429C>A, NG_015814.1:g.8429C>T, NM_032332.4:c.277C>A, NM_032332.4:c.277C>T, NM_032332.3:c.277C>A, NM_032332.3:c.277C>T, NM_001099737.3:c.277C>A, NM_001099737.3:c.277C>T, NM_001099737.2:c.277C>A, NM_001099737.2:c.277C>T, NR_029375.2:n.602C>A, NR_029375.2:n.602C>T, NR_029375.1:n.605C>A, NR_029375.1:n.605C>T, NP_115708.1:p.Leu93Met, NP_001093207.1:p.Leu93Met
13.
rs1486685773 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:12671143
(GRCh38)
19:12781957
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12671142:C:T
- Gene:
- WDR83OS (Varview), WDR83 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1486598388 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:12669881
(GRCh38)
19:12780695
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12669880:G:A,NC_000019.10:12669880:G:T
- Gene:
- WDR83OS (Varview), WDR83 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_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)
- HGVS:
NC_000019.10:g.12669881G>A, NC_000019.10:g.12669881G>T, NC_000019.9:g.12780695G>A, NC_000019.9:g.12780695G>T, NG_008318.1:g.1897C>T, NG_008318.1:g.1897C>A, NG_015814.1:g.8078G>A, NG_015814.1:g.8078G>T, NM_032332.4:c.91G>A, NM_032332.4:c.91G>T, NM_032332.3:c.91G>A, NM_032332.3:c.91G>T, NM_001099737.3:c.91G>A, NM_001099737.3:c.91G>T, NM_001099737.2:c.91G>A, NM_001099737.2:c.91G>T, NR_029375.2:n.433G>A, NR_029375.2:n.433G>T, NR_029375.1:n.436G>A, NR_029375.1:n.436G>T, NP_115708.1:p.Val31Ile, NP_115708.1:p.Val31Leu, NP_001093207.1:p.Val31Ile, NP_001093207.1:p.Val31Leu
15.
rs1486169430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:12672659
(GRCh38)
19:12783473
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12672658:G:A,NC_000019.10:12672658:G:C
- Gene:
- DHPS (Varview), WDR83 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1485915599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:12670696
(GRCh38)
19:12781510
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12670695:C:A
- Gene:
- WDR83OS (Varview), WDR83 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1485323118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:12669162
(GRCh38)
19:12779976
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12669161:C:T
- Gene:
- WDR83OS (Varview), WDR83 (Varview)
- Functional Consequence:
- missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1484932321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12671281
(GRCh38)
19:12782095
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12671280:T:C
- Gene:
- WDR83OS (Varview), WDR83 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00007/1
(TOMMO)
- HGVS:
19.
rs1484215172 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGGTTTCGCCATGTTGGCC>-
[Show Flanks]
- Chromosome:
- 19:12671887
(GRCh38)
19:12782701
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12671885:CGGGGTTTCGCCATGTTGGCC:C
- Gene:
- WDR83 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
20.
rs1484159476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:12669779
(GRCh38)
19:12780593
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12669778:A:C,NC_000019.10:12669778:A:G
- Gene:
- WDR83OS (Varview), WDR83 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.12669779A>C, NC_000019.10:g.12669779A>G, NC_000019.9:g.12780593A>C, NC_000019.9:g.12780593A>G, NG_008318.1:g.1999T>G, NG_008318.1:g.1999T>C, NG_015814.1:g.7976A>C, NG_015814.1:g.7976A>G, NM_032332.4:c.-12A>C, NM_032332.4:c.-12A>G, NM_032332.3:c.-12A>C, NM_032332.3:c.-12A>G, NM_001099737.3:c.-12A>C, NM_001099737.3:c.-12A>G, NM_001099737.2:c.-12A>C, NM_001099737.2:c.-12A>G, NR_029375.2:n.331A>C, NR_029375.2:n.331A>G, NR_029375.1:n.334A>C, NR_029375.1:n.334A>G