Links from Gene
Items: 1 to 20 of 7409
1.
rs1491229706 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 20:46063837
(GRCh38)
20:44692476
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46063832:GAGAGA:GAGA
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000029/4
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
2.
rs1491003970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:46086756
(GRCh38)
20:44715395
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46086755:G:T
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490925262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:46090069
(GRCh38)
20:44718708
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46090068:A:C
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
4.
rs1490805978 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 20:46064856
(GRCh38)
20:44693495
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46064855:A:T
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490687187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:46063852
(GRCh38)
20:44692491
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46063851:G:A
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- 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:
6.
rs1490512572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:46087123
(GRCh38)
20:44715762
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46087122:G:A
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- 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.
rs1490315778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:46065417
(GRCh38)
20:44694056
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46065416:T:C
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490199234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:46064320
(GRCh38)
20:44692959
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46064319:A:G
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490161642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:46070874
(GRCh38)
20:44699513
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46070873:G:C
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
11.
rs1489987323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:46071958
(GRCh38)
20:44700597
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46071957:G:C
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
13.
rs1489809576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:46080320
(GRCh38)
20:44708959
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46080319:A:G
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489769028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:46089435
(GRCh38)
20:44718074
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46089434:T:C
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1489624268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:46064781
(GRCh38)
20:44693420
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46064780:G:T
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
16.
rs1489034386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:46072804
(GRCh38)
20:44701443
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46072803:T:C
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000036/5
(GnomAD)
C=0.000049/13
(TOPMED)
- HGVS:
17.
rs1489004115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 20:46073772
(GRCh38)
20:44702411
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46073771:T:A,NC_000020.11:46073771:T:C
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1488918718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:46070421
(GRCh38)
20:44699060
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46070420:T:C
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000020.11:g.46070421T>C, NC_000020.10:g.44699060T>C, NM_020967.3:c.154A>G, NM_020967.2:c.154A>G, NM_001348149.2:c.154A>G, NM_001348149.1:c.154A>G, NM_001348151.2:c.-162A>G, NM_001348151.1:c.-162A>G, NM_001348148.2:c.-162A>G, NM_001348148.1:c.-162A>G, NM_001348150.2:c.108A>G, NM_001348150.1:c.108A>G, NP_066018.1:p.Arg52Gly, NP_001335078.1:p.Arg52Gly
19.
rs1488908981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:46077140
(GRCh38)
20:44705779
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46077139:G:A
- Gene:
- NCOA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: