Links from Gene
Items: 1 to 20 of 3410
2.
rs1491275428 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:121726517
(GRCh38)
2:122484094
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121726517::T
- Gene:
- NIFK (Varview), NIFK-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00006/1
(
ALFA)
T=0.00012/2
(TOMMO)
- HGVS:
3.
rs1491230100 has merged into rs34070901 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:121726527
(GRCh38)
2:122484103
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NIFK (Varview), NIFK-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.0184/71
(ALSPAC)
-=0.0232/86
(TWINSUK)
-=0.4429/2218
(1000Genomes)
- HGVS:
NC_000002.12:g.121726527_121726535del, NC_000002.12:g.121726529_121726535del, NC_000002.12:g.121726530_121726535del, NC_000002.12:g.121726531_121726535del, NC_000002.12:g.121726532_121726535del, NC_000002.12:g.121726533_121726535del, NC_000002.12:g.121726534_121726535del, NC_000002.12:g.121726535del, NC_000002.12:g.121726535dup, NC_000002.12:g.121726534_121726535dup, NC_000002.12:g.121726533_121726535dup, NC_000002.12:g.121726532_121726535dup, NC_000002.12:g.121726531_121726535dup, NC_000002.12:g.121726526_121726535dup, NC_000002.11:g.122484103_122484111del, NC_000002.11:g.122484105_122484111del, NC_000002.11:g.122484106_122484111del, NC_000002.11:g.122484107_122484111del, NC_000002.11:g.122484108_122484111del, NC_000002.11:g.122484109_122484111del, NC_000002.11:g.122484110_122484111del, NC_000002.11:g.122484111del, NC_000002.11:g.122484111dup, NC_000002.11:g.122484110_122484111dup, NC_000002.11:g.122484109_122484111dup, NC_000002.11:g.122484108_122484111dup, NC_000002.11:g.122484107_122484111dup, NC_000002.11:g.122484102_122484111dup
4.
rs1491015592 has merged into rs34070901 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:121726527
(GRCh38)
2:122484103
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NIFK (Varview), NIFK-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.0184/71
(ALSPAC)
-=0.0232/86
(TWINSUK)
-=0.4429/2218
(1000Genomes)
- HGVS:
NC_000002.12:g.121726527_121726535del, NC_000002.12:g.121726529_121726535del, NC_000002.12:g.121726530_121726535del, NC_000002.12:g.121726531_121726535del, NC_000002.12:g.121726532_121726535del, NC_000002.12:g.121726533_121726535del, NC_000002.12:g.121726534_121726535del, NC_000002.12:g.121726535del, NC_000002.12:g.121726535dup, NC_000002.12:g.121726534_121726535dup, NC_000002.12:g.121726533_121726535dup, NC_000002.12:g.121726532_121726535dup, NC_000002.12:g.121726531_121726535dup, NC_000002.12:g.121726526_121726535dup, NC_000002.11:g.122484103_122484111del, NC_000002.11:g.122484105_122484111del, NC_000002.11:g.122484106_122484111del, NC_000002.11:g.122484107_122484111del, NC_000002.11:g.122484108_122484111del, NC_000002.11:g.122484109_122484111del, NC_000002.11:g.122484110_122484111del, NC_000002.11:g.122484111del, NC_000002.11:g.122484111dup, NC_000002.11:g.122484110_122484111dup, NC_000002.11:g.122484109_122484111dup, NC_000002.11:g.122484108_122484111dup, NC_000002.11:g.122484107_122484111dup, NC_000002.11:g.122484102_122484111dup
5.
rs1490819969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:121738362
(GRCh38)
2:122495938
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121738361:C:T
- Gene:
- NIFK (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490721895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:121726646
(GRCh38)
2:122484222
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121726645:G:C
- Gene:
- NIFK (Varview), NIFK-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490628389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:121738897
(GRCh38)
2:122496473
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121738896:T:A
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490492247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:121733303
(GRCh38)
2:122490879
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121733302:T:C
- Gene:
- NIFK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
9.
rs1489364615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:121730964
(GRCh38)
2:122488540
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121730963:A:G
- Gene:
- NIFK (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1488797004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:121734153
(GRCh38)
2:122491729
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121734152:A:G
- Gene:
- NIFK (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:
11.
rs1488233403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:121731853
(GRCh38)
2:122489429
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121731852:C:T
- Gene:
- NIFK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1488019385 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 2:121737678
(GRCh38)
2:122495254
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121737677:C:
- Gene:
- NIFK (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
13.
rs1487249058 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:121736765
(GRCh38)
2:122494341
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121736764:A:G
- Gene:
- NIFK (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1487221732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:121737200
(GRCh38)
2:122494776
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121737199:G:A,NC_000002.12:121737199:G:C
- Gene:
- NIFK (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486918982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:121732910
(GRCh38)
2:122490486
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121732909:A:G
- Gene:
- NIFK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00026/4
(
ALFA)
G=0.00007/1
(TOMMO)
- HGVS:
16.
rs1486726443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:121734237
(GRCh38)
2:122491813
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121734236:A:G
- Gene:
- NIFK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
17.
rs1486694207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 2:121733404
(GRCh38)
2:122490980
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121733403:A:C,NC_000002.12:121733403:A:T
- Gene:
- NIFK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1486651912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:121730303
(GRCh38)
2:122487879
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121730302:C:T
- Gene:
- NIFK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
- HGVS:
19.
rs1486366208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:121731847
(GRCh38)
2:122489423
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121731846:G:C
- Gene:
- NIFK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
20.
rs1485716433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:121730014
(GRCh38)
2:122487590
(GRCh37)
- Canonical SPDI:
- NC_000002.12:121730013:A:G
- Gene:
- NIFK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS: