Links from Nucleotide
Items: 1 to 20 of 6026
1.
rs1490885881 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 22:36872575
(GRCh38)
22:37268617
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36872574:G:
- Gene:
- NCF4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000018/2
(GnomAD)
- HGVS:
2.
rs1490611181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:36857117
(GRCh38)
22:37253159
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36857116:G:A
- Gene:
- NCF4-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
A=0.000223/1
(Estonian)
- HGVS:
3.
rs1490395930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:36872915
(GRCh38)
22:37268957
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36872914:G:A
- Gene:
- NCF4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000196/4
(TOMMO)
- HGVS:
4.
rs1490343241 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 22:36862353
(GRCh38)
22:37258395
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36862352:CC:C
- Gene:
- NCF4 (Varview), NCF4-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490248456 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 22:36875264
(GRCh38)
22:37271306
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36875263:AA:A
- Gene:
- NCF4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
6.
rs1490232789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:36876219
(GRCh38)
22:37272261
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36876218:C:A,NC_000022.11:36876218:C:T
- Gene:
- NCF4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
7.
rs1490215218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:36862286
(GRCh38)
22:37258328
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36862285:G:A
- Gene:
- NCF4 (Varview), NCF4-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
8.
rs1490189240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 22:36863014
(GRCh38)
22:37259056
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36863013:T:C,NC_000022.11:36863013:T:G
- Gene:
- NCF4 (Varview), NCF4-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490159813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:36860387
(GRCh38)
22:37256429
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36860386:G:T
- Gene:
- NCF4 (Varview), NCF4-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
T=0.000053/14
(TOPMED)
- HGVS:
11.
rs1490127336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 22:36861252
(GRCh38)
22:37257294
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36861251:A:C
- Gene:
- NCF4 (Varview), NCF4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000007/1
(GnomAD_exomes)
- HGVS:
13.
rs1490109267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:36858234
(GRCh38)
22:37254276
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36858233:G:A
- Gene:
- NCF4-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
14.
rs1490020205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:36871641
(GRCh38)
22:37267683
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36871640:T:C
- Gene:
- NCF4 (Varview), NCF4-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000006/1
(GnomAD_exomes)
- HGVS:
15.
rs1489723798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:36856722
(GRCh38)
22:37252764
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36856721:G:T
- Gene:
- NCF4-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489511533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:36858956
(GRCh38)
22:37254998
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36858955:T:C
- Gene:
- NCF4-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489472152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:36859581
(GRCh38)
22:37255623
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36859580:C:A
- Gene:
- NCF4 (Varview), NCF4-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489385924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 22:36858559
(GRCh38)
22:37254601
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36858558:T:G
- Gene:
- NCF4-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.0548/895
(
ALFA)
G=0.01552/24
(Korea1K)
G=0.02363/395
(TOMMO)
G=0.05662/165
(KOREAN)
- HGVS:
19.
rs1489252504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:36867219
(GRCh38)
22:37263261
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36867218:T:C
- Gene:
- NCF4 (Varview), NCF4-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489177533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:36867032
(GRCh38)
22:37263074
(GRCh37)
- Canonical SPDI:
- NC_000022.11:36867031:T:C
- Gene:
- NCF4 (Varview), NCF4-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: