Links from Gene
Items: 1 to 20 of 1000
1.
rs1490264141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:690493
(GRCh38)
16:740493
(GRCh37)
- Canonical SPDI:
- NC_000016.10:690492:C:T
- Gene:
- WDR24 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD_exomes)
- HGVS:
3.
rs1489778277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:686531
(GRCh38)
16:736531
(GRCh37)
- Canonical SPDI:
- NC_000016.10:686530:C:A
- Gene:
- WDR24 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000016/2
(GnomAD)
- HGVS:
4.
rs1489717862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:685357
(GRCh38)
16:735357
(GRCh37)
- Canonical SPDI:
- NC_000016.10:685356:A:G
- Gene:
- WDR24 (Varview), JMJD8 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
6.
rs1489676981 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 16:684550
(GRCh38)
16:734550
(GRCh37)
- Canonical SPDI:
- NC_000016.10:684549:CCCCC:CCCC
- Gene:
- WDR24 (Varview), JMJD8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCC=0.000071/1
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
7.
rs1489313051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:691392
(GRCh38)
16:741392
(GRCh37)
- Canonical SPDI:
- NC_000016.10:691391:C:T
- Gene:
- WDR24 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
8.
rs1489251255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:685063
(GRCh38)
16:735063
(GRCh37)
- Canonical SPDI:
- NC_000016.10:685062:G:A
- Gene:
- WDR24 (Varview), JMJD8 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
9.
rs1488876840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:685280
(GRCh38)
16:735280
(GRCh37)
- Canonical SPDI:
- NC_000016.10:685279:T:G
- Gene:
- WDR24 (Varview), JMJD8 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1488701003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:684880
(GRCh38)
16:734880
(GRCh37)
- Canonical SPDI:
- NC_000016.10:684879:A:C
- Gene:
- WDR24 (Varview), JMJD8 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1488353582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:684146
(GRCh38)
16:734146
(GRCh37)
- Canonical SPDI:
- NC_000016.10:684145:G:A
- Gene:
- WDR24 (Varview), JMJD8 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000012/1
(GnomAD_exomes)
- HGVS:
NC_000016.10:g.684146G>A, NC_000016.9:g.734146G>A, NG_034141.1:g.9036G>A, NM_001005920.4:c.96C>T, NM_001005920.3:c.96C>T, NM_001005920.2:c.159C>T, NR_136651.3:n.111C>T, NR_136651.2:n.111C>T, NR_136651.1:n.223C>T, NR_136650.3:n.111C>T, NR_136650.2:n.111C>T, NR_136650.1:n.223C>T, NM_001323918.3:c.96C>T, NM_001323918.2:c.96C>T, NM_001323918.1:c.159C>T, NM_001323919.3:c.96C>T, NM_001323919.2:c.96C>T, NM_001323919.1:c.159C>T
12.
rs1488325942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:684827
(GRCh38)
16:734827
(GRCh37)
- Canonical SPDI:
- NC_000016.10:684826:G:A
- Gene:
- WDR24 (Varview), JMJD8 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000018/3
(GnomAD_exomes)
- HGVS:
13.
rs1487737573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:686088
(GRCh38)
16:736088
(GRCh37)
- Canonical SPDI:
- NC_000016.10:686087:A:G
- Gene:
- WDR24 (Varview), JMJD8 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1487586243 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:690990
(GRCh38)
16:740990
(GRCh37)
- Canonical SPDI:
- NC_000016.10:690989:T:A
- Gene:
- WDR24 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
15.
rs1487270874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:685015
(GRCh38)
16:735015
(GRCh37)
- Canonical SPDI:
- NC_000016.10:685014:G:A
- Gene:
- WDR24 (Varview), JMJD8 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000006/1
(GnomAD_exomes)
- HGVS:
16.
rs1486796093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:690032
(GRCh38)
16:740032
(GRCh37)
- Canonical SPDI:
- NC_000016.10:690031:G:A
- Gene:
- WDR24 (Varview)
- Functional Consequence:
- upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
17.
rs1486256246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:689446
(GRCh38)
16:739446
(GRCh37)
- Canonical SPDI:
- NC_000016.10:689445:C:T
- Gene:
- WDR24 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1485732717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:686747
(GRCh38)
16:736747
(GRCh37)
- Canonical SPDI:
- NC_000016.10:686746:G:A,NC_000016.10:686746:G:C
- Gene:
- WDR24 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000037/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000016.10:g.686747G>A, NC_000016.10:g.686747G>C, NC_000016.9:g.736747G>A, NC_000016.9:g.736747G>C, NM_032259.4:c.1329C>T, NM_032259.4:c.1329C>G, NM_032259.3:c.1329C>T, NM_032259.3:c.1329C>G, NM_032259.2:c.1329C>T, NM_032259.2:c.1329C>G, NM_001303027.1:c.1329C>T, NM_001303027.1:c.1329C>G, XM_047434767.1:c.1098C>T, XM_047434767.1:c.1098C>G, NP_115635.1:p.Asn443Lys, XP_047290723.1:p.Asn366Lys
19.
rs1485618525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:684200
(GRCh38)
16:734200
(GRCh37)
- Canonical SPDI:
- NC_000016.10:684199:G:A
- Gene:
- WDR24 (Varview), JMJD8 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1485295166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 16:688329
(GRCh38)
16:738329
(GRCh37)
- Canonical SPDI:
- NC_000016.10:688328:C:A,NC_000016.10:688328:C:G
- Gene:
- WDR24 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
A=0.000685/2
(KOREAN)
- HGVS: