Links from Gene
Items: 1 to 20 of 3270
2.
rs1491524302 has merged into rs113283565 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:22949161
(GRCh38)
14:23418370
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22949157:AAAAAAAAAAAAAAAA:AAA,NC_000014.9:22949157:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:22949157:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:22949157:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:22949157:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:22949157:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:22949157:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:22949157:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:22949157:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.05177/860
(TOMMO)
-=0.475/19
(GENOME_DK)
- HGVS:
NC_000014.9:g.22949161_22949173del, NC_000014.9:g.22949169_22949173del, NC_000014.9:g.22949170_22949173del, NC_000014.9:g.22949171_22949173del, NC_000014.9:g.22949172_22949173del, NC_000014.9:g.22949173del, NC_000014.9:g.22949173dup, NC_000014.9:g.22949172_22949173dup, NC_000014.9:g.22949167_22949173dup, NC_000014.8:g.23418370_23418382del, NC_000014.8:g.23418378_23418382del, NC_000014.8:g.23418379_23418382del, NC_000014.8:g.23418380_23418382del, NC_000014.8:g.23418381_23418382del, NC_000014.8:g.23418382del, NC_000014.8:g.23418382dup, NC_000014.8:g.23418381_23418382dup, NC_000014.8:g.23418376_23418382dup
4.
rs1491280915 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:22945791
(GRCh38)
14:23415000
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22945790:AT:
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00031/2
(1000Genomes)
- HGVS:
5.
rs1491240784 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:22954730
(GRCh38)
14:23423939
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22954729:CT:
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1491193349 has merged into rs551775168 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:22954739
(GRCh38)
14:23423948
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:22954730:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.245807/1231
(1000Genomes)
- HGVS:
NC_000014.9:g.22954739_22954748del, NC_000014.9:g.22954741_22954748del, NC_000014.9:g.22954744_22954748del, NC_000014.9:g.22954745_22954748del, NC_000014.9:g.22954746_22954748del, NC_000014.9:g.22954747_22954748del, NC_000014.9:g.22954748del, NC_000014.9:g.22954748dup, NC_000014.9:g.22954747_22954748dup, NC_000014.9:g.22954746_22954748dup, NC_000014.9:g.22954744_22954748dup, NC_000014.8:g.23423948_23423957del, NC_000014.8:g.23423950_23423957del, NC_000014.8:g.23423953_23423957del, NC_000014.8:g.23423954_23423957del, NC_000014.8:g.23423955_23423957del, NC_000014.8:g.23423956_23423957del, NC_000014.8:g.23423957del, NC_000014.8:g.23423957dup, NC_000014.8:g.23423956_23423957dup, NC_000014.8:g.23423955_23423957dup, NC_000014.8:g.23423953_23423957dup
7.
rs1491154418 has merged into rs5807198 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:22949538
(GRCh38)
14:23418747
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:22949528:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000014.9:g.22949538_22949550del, NC_000014.9:g.22949541_22949550del, NC_000014.9:g.22949542_22949550del, NC_000014.9:g.22949543_22949550del, NC_000014.9:g.22949544_22949550del, NC_000014.9:g.22949545_22949550del, NC_000014.9:g.22949546_22949550del, NC_000014.9:g.22949548_22949550del, NC_000014.9:g.22949549_22949550del, NC_000014.9:g.22949550del, NC_000014.9:g.22949550dup, NC_000014.9:g.22949549_22949550dup, NC_000014.9:g.22949548_22949550dup, NC_000014.9:g.22949547_22949550dup, NC_000014.9:g.22949546_22949550dup, NC_000014.8:g.23418747_23418759del, NC_000014.8:g.23418750_23418759del, NC_000014.8:g.23418751_23418759del, NC_000014.8:g.23418752_23418759del, NC_000014.8:g.23418753_23418759del, NC_000014.8:g.23418754_23418759del, NC_000014.8:g.23418755_23418759del, NC_000014.8:g.23418757_23418759del, NC_000014.8:g.23418758_23418759del, NC_000014.8:g.23418759del, NC_000014.8:g.23418759dup, NC_000014.8:g.23418758_23418759dup, NC_000014.8:g.23418757_23418759dup, NC_000014.8:g.23418756_23418759dup, NC_000014.8:g.23418755_23418759dup
8.
rs1490616705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:22947312
(GRCh38)
14:23416521
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22947311:A:G
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.15275/2506
(
ALFA)
G=0.00329/55
(TOMMO)
G=0.02253/66
(KOREAN)
- HGVS:
9.
rs1490453432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:22950596
(GRCh38)
14:23419805
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22950595:T:G
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490448306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:22951865
(GRCh38)
14:23421074
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22951864:A:G
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490285885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:22951321
(GRCh38)
14:23420530
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22951320:A:C
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490033629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:22958103
(GRCh38)
14:23427312
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22958102:G:T
- Gene:
- HAUS4 (Varview), MIR4707 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1489901720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:22958520
(GRCh38)
14:23427729
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22958519:A:G
- Gene:
- HAUS4 (Varview), MIR4707 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.5/1
(SGDP_PRJ)
- HGVS:
14.
rs1489868908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:22957706
(GRCh38)
14:23426915
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22957705:C:T
- Gene:
- HAUS4 (Varview), MIR4707 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489756621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:22956916
(GRCh38)
14:23426125
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22956915:C:G
- Gene:
- HAUS4 (Varview), MIR4707 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489745841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:22957598
(GRCh38)
14:23426807
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22957597:C:A
- Gene:
- HAUS4 (Varview), MIR4707 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1488857616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:22951340
(GRCh38)
14:23420549
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22951339:C:T
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
18.
rs1488827795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 14:22953812
(GRCh38)
14:23423021
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22953811:A:G,NC_000014.9:22953811:A:T
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.004349/71
(
ALFA)
G=0.000008/1
(GnomAD)
T=0.000071/2
(TOMMO)
T=0.001092/2
(Korea1K)
T=0.010624/31
(KOREAN)
- HGVS:
19.
rs1488233210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 14:22956085
(GRCh38)
14:23425294
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22956084:T:A,NC_000014.9:22956084:T:C,NC_000014.9:22956084:T:G
- Gene:
- HAUS4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
C=0.000684/2
(KOREAN)
- HGVS:
20.
rs1488205739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:22949390
(GRCh38)
14:23418599
(GRCh37)
- Canonical SPDI:
- NC_000014.9:22949389:G:A
- Gene:
- HAUS4 (Varview), PRMT5-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000058/8
(GnomAD)
- HGVS: