Links from Gene
Items: 1 to 20 of 1000
1.
rs1491492698 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:76068779
(GRCh38)
12:76462559
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76068778:CT:
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00013/18
(GnomAD)
- HGVS:
2.
rs1491471909 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 12:76067007
(GRCh38)
12:76460787
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76067006:GT:
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000057/15
(TOPMED)
-=0.000086/12
(GnomAD)
- HGVS:
3.
rs1491407180 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 12:76067487
(GRCh38)
12:76461267
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76067486:AG:
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000013/3
(GnomAD_exomes)
-=0.000017/2
(ExAC)
- HGVS:
5.
rs1491260856 has merged into rs58649228 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 12:76076558
(GRCh38)
12:76470338
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:76076549:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATAT=0./0
(
ALFA)
ATATATATATATATATATATATATATATAT=0./0
(GENOME_DK)
- HGVS:
NC_000012.12:g.76076550AT[4], NC_000012.12:g.76076550AT[5], NC_000012.12:g.76076550AT[6], NC_000012.12:g.76076550AT[7], NC_000012.12:g.76076550AT[8], NC_000012.12:g.76076550AT[9], NC_000012.12:g.76076550AT[10], NC_000012.12:g.76076550AT[11], NC_000012.12:g.76076550AT[12], NC_000012.12:g.76076550AT[13], NC_000012.12:g.76076550AT[14], NC_000012.12:g.76076550AT[15], NC_000012.12:g.76076550AT[16], NC_000012.12:g.76076550AT[17], NC_000012.12:g.76076550AT[18], NC_000012.12:g.76076550AT[19], NC_000012.12:g.76076550AT[20], NC_000012.12:g.76076550AT[21], NC_000012.12:g.76076550AT[23], NC_000012.12:g.76076550AT[24], NC_000012.12:g.76076550AT[25], NC_000012.12:g.76076550AT[26], NC_000012.12:g.76076550AT[27], NC_000012.12:g.76076550AT[28], NC_000012.12:g.76076550AT[29], NC_000012.12:g.76076550AT[30], NC_000012.12:g.76076550AT[31], NC_000012.12:g.76076550AT[32], NC_000012.12:g.76076550AT[33], NC_000012.12:g.76076550AT[34], NC_000012.12:g.76076550AT[35], NC_000012.12:g.76076550AT[36], NC_000012.11:g.76470330AT[4], NC_000012.11:g.76470330AT[5], NC_000012.11:g.76470330AT[6], NC_000012.11:g.76470330AT[7], NC_000012.11:g.76470330AT[8], NC_000012.11:g.76470330AT[9], NC_000012.11:g.76470330AT[10], NC_000012.11:g.76470330AT[11], NC_000012.11:g.76470330AT[12], NC_000012.11:g.76470330AT[13], NC_000012.11:g.76470330AT[14], NC_000012.11:g.76470330AT[15], NC_000012.11:g.76470330AT[16], NC_000012.11:g.76470330AT[17], NC_000012.11:g.76470330AT[18], NC_000012.11:g.76470330AT[19], NC_000012.11:g.76470330AT[20], NC_000012.11:g.76470330AT[21], NC_000012.11:g.76470330AT[23], NC_000012.11:g.76470330AT[24], NC_000012.11:g.76470330AT[25], NC_000012.11:g.76470330AT[26], NC_000012.11:g.76470330AT[27], NC_000012.11:g.76470330AT[28], NC_000012.11:g.76470330AT[29], NC_000012.11:g.76470330AT[30], NC_000012.11:g.76470330AT[31], NC_000012.11:g.76470330AT[32], NC_000012.11:g.76470330AT[33], NC_000012.11:g.76470330AT[34], NC_000012.11:g.76470330AT[35], NC_000012.11:g.76470330AT[36]
6.
rs1491206534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 12:76082281
(GRCh38)
12:76476062
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76082281:A:AA
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491201451 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:76071403
(GRCh38)
12:76465183
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76071402:CA:
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1491175426 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:76082281
(GRCh38)
12:76476061
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76082280:CA:
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491149272 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 12:76076550
(GRCh38)
12:76470331
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76076550:T:TT
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.00176/2
(GnomAD)
- HGVS:
10.
rs1491080344 has merged into rs10693123 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:76063891
(GRCh38)
12:76457671
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:76063881:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.76063891_76063902del, NC_000012.12:g.76063892_76063902del, NC_000012.12:g.76063893_76063902del, NC_000012.12:g.76063894_76063902del, NC_000012.12:g.76063895_76063902del, NC_000012.12:g.76063896_76063902del, NC_000012.12:g.76063897_76063902del, NC_000012.12:g.76063898_76063902del, NC_000012.12:g.76063899_76063902del, NC_000012.12:g.76063900_76063902del, NC_000012.12:g.76063901_76063902del, NC_000012.12:g.76063902del, NC_000012.12:g.76063902dup, NC_000012.12:g.76063901_76063902dup, NC_000012.12:g.76063900_76063902dup, NC_000012.12:g.76063899_76063902dup, NC_000012.12:g.76063898_76063902dup, NC_000012.12:g.76063897_76063902dup, NC_000012.12:g.76063893_76063902dup, NC_000012.12:g.76063892_76063902dup, NC_000012.12:g.76063888_76063902dup, NC_000012.11:g.76457671_76457682del, NC_000012.11:g.76457672_76457682del, NC_000012.11:g.76457673_76457682del, NC_000012.11:g.76457674_76457682del, NC_000012.11:g.76457675_76457682del, NC_000012.11:g.76457676_76457682del, NC_000012.11:g.76457677_76457682del, NC_000012.11:g.76457678_76457682del, NC_000012.11:g.76457679_76457682del, NC_000012.11:g.76457680_76457682del, NC_000012.11:g.76457681_76457682del, NC_000012.11:g.76457682del, NC_000012.11:g.76457682dup, NC_000012.11:g.76457681_76457682dup, NC_000012.11:g.76457680_76457682dup, NC_000012.11:g.76457679_76457682dup, NC_000012.11:g.76457678_76457682dup, NC_000012.11:g.76457677_76457682dup, NC_000012.11:g.76457673_76457682dup, NC_000012.11:g.76457672_76457682dup, NC_000012.11:g.76457668_76457682dup
11.
rs1490911456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:76072848
(GRCh38)
12:76466628
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76072847:T:C,NC_000012.12:76072847:T:G
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
12.
rs1490774076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:76065003
(GRCh38)
12:76458783
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76065002:C:T
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000132/2
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000446/2
(Estonian)
- HGVS:
13.
rs1490538878 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 12:76070713
(GRCh38)
12:76464494
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76070713:GG:GGG
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0.000071/1
(
ALFA)
G=0.000156/1
(1000Genomes)
G=0.000348/92
(TOPMED)
G=0.000361/50
(GnomAD)
- HGVS:
14.
rs1490443444 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAAATAAATAAATAAATAAACAAA>-
[Show Flanks]
- Chromosome:
- 12:76066121
(GRCh38)
12:76459901
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76066117:AAATAAATAAATAAATAAATAAACAAA:AAA
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
16.
rs1490265537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:76051754
(GRCh38)
12:76445534
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76051753:C:T
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490119513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:76066829
(GRCh38)
12:76460609
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76066828:G:A
- Gene:
- NAP1L1 (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:
18.
rs1490086818 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCAGT>-
[Show Flanks]
- Chromosome:
- 12:76082391
(GRCh38)
12:76476171
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76082387:AGTGCAGT:AGT
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
19.
rs1489956025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:76066440
(GRCh38)
12:76460220
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76066439:A:G
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
20.
rs1489939603 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:76081992
(GRCh38)
12:76475772
(GRCh37)
- Canonical SPDI:
- NC_000012.12:76081991:A:G
- Gene:
- NAP1L1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: