Links from Gene
Items: 1 to 20 of 9341
1.
rs1491552436 has merged into rs58748109 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:6541029
(GRCh38)
1:6601089
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.6541029_6541034del, NC_000001.11:g.6541031_6541034del, NC_000001.11:g.6541032_6541034del, NC_000001.11:g.6541033_6541034del, NC_000001.11:g.6541034del, NC_000001.11:g.6541034dup, NC_000001.11:g.6541033_6541034dup, NC_000001.11:g.6541032_6541034dup, NC_000001.11:g.6541031_6541034dup, NC_000001.10:g.6601089_6601094del, NC_000001.10:g.6601091_6601094del, NC_000001.10:g.6601092_6601094del, NC_000001.10:g.6601093_6601094del, NC_000001.10:g.6601094del, NC_000001.10:g.6601094dup, NC_000001.10:g.6601093_6601094dup, NC_000001.10:g.6601092_6601094dup, NC_000001.10:g.6601091_6601094dup, NG_042928.1:g.276_281del, NG_042928.1:g.278_281del, NG_042928.1:g.279_281del, NG_042928.1:g.280_281del, NG_042928.1:g.281del, NG_042928.1:g.281dup, NG_042928.1:g.280_281dup, NG_042928.1:g.279_281dup, NG_042928.1:g.278_281dup
2.
rs1491540188 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 1:6541011
(GRCh38)
1:6601071
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6541010:GT:
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.024448/290
(
ALFA)
-=0.015/240
(TOMMO)
-=0.029306/3322
(GnomAD)
- HGVS:
3.
rs1491507068 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 1:6538018
(GRCh38)
1:6598078
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6538017:GT:
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00313/14
(
ALFA)
-=0.00164/3
(Korea1K)
-=0.00313/14
(Estonian)
-=0.00446/75
(TOMMO)
- HGVS:
4.
rs1491498112 has merged into rs35793215 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:6538000
(GRCh38)
1:6598060
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.6538000_6538015del, NC_000001.11:g.6538001_6538015del, NC_000001.11:g.6538002_6538015del, NC_000001.11:g.6538003_6538015del, NC_000001.11:g.6538004_6538015del, NC_000001.11:g.6538007_6538015del, NC_000001.11:g.6538008_6538015del, NC_000001.11:g.6538009_6538015del, NC_000001.11:g.6538010_6538015del, NC_000001.11:g.6538011_6538015del, NC_000001.11:g.6538012_6538015del, NC_000001.11:g.6538013_6538015del, NC_000001.11:g.6538014_6538015del, NC_000001.11:g.6538015del, NC_000001.11:g.6538015dup, NC_000001.11:g.6538014_6538015dup, NC_000001.11:g.6538012_6538015dup, NC_000001.11:g.6538011_6538015dup, NC_000001.11:g.6538010_6538015dup, NC_000001.11:g.6538009_6538015dup, NC_000001.11:g.6538015_6538016insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.6598060_6598075del, NC_000001.10:g.6598061_6598075del, NC_000001.10:g.6598062_6598075del, NC_000001.10:g.6598063_6598075del, NC_000001.10:g.6598064_6598075del, NC_000001.10:g.6598067_6598075del, NC_000001.10:g.6598068_6598075del, NC_000001.10:g.6598069_6598075del, NC_000001.10:g.6598070_6598075del, NC_000001.10:g.6598071_6598075del, NC_000001.10:g.6598072_6598075del, NC_000001.10:g.6598073_6598075del, NC_000001.10:g.6598074_6598075del, NC_000001.10:g.6598075del, NC_000001.10:g.6598075dup, NC_000001.10:g.6598074_6598075dup, NC_000001.10:g.6598072_6598075dup, NC_000001.10:g.6598071_6598075dup, NC_000001.10:g.6598070_6598075dup, NC_000001.10:g.6598069_6598075dup, NC_000001.10:g.6598075_6598076insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1491390912 has merged into rs34186512 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:6550695
(GRCh38)
1:6610755
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.4591/2299
(1000Genomes)
- HGVS:
NC_000001.11:g.6550695_6550700del, NC_000001.11:g.6550698_6550700del, NC_000001.11:g.6550699_6550700del, NC_000001.11:g.6550700del, NC_000001.11:g.6550700dup, NC_000001.11:g.6550699_6550700dup, NC_000001.11:g.6550698_6550700dup, NC_000001.11:g.6550697_6550700dup, NC_000001.11:g.6550696_6550700dup, NC_000001.11:g.6550694_6550700dup, NC_000001.11:g.6550691_6550700dup, NC_000001.10:g.6610755_6610760del, NC_000001.10:g.6610758_6610760del, NC_000001.10:g.6610759_6610760del, NC_000001.10:g.6610760del, NC_000001.10:g.6610760dup, NC_000001.10:g.6610759_6610760dup, NC_000001.10:g.6610758_6610760dup, NC_000001.10:g.6610757_6610760dup, NC_000001.10:g.6610756_6610760dup, NC_000001.10:g.6610754_6610760dup, NC_000001.10:g.6610751_6610760dup
7.
rs1491363014 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 1:6542164
(GRCh38)
1:6602225
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6542164:T:TAT
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAT=0./0
(
ALFA)
TA=0.0033/2
(GnomAD)
- HGVS:
9.
rs1491334874 has merged into rs5772238 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:6542175
(GRCh38)
1:6602235
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0./0
(ALSPAC)
T=0./0
(TWINSUK)
T=0.0285/17
(NorthernSweden)
T=0.075/3
(GENOME_DK)
T=0.0807/404
(1000Genomes)
- HGVS:
NC_000001.11:g.6542175_6542179del, NC_000001.11:g.6542176_6542179del, NC_000001.11:g.6542177_6542179del, NC_000001.11:g.6542178_6542179del, NC_000001.11:g.6542179del, NC_000001.11:g.6542179dup, NC_000001.11:g.6542172_6542179dup, NC_000001.10:g.6602235_6602239del, NC_000001.10:g.6602236_6602239del, NC_000001.10:g.6602237_6602239del, NC_000001.10:g.6602238_6602239del, NC_000001.10:g.6602239del, NC_000001.10:g.6602239dup, NC_000001.10:g.6602232_6602239dup
10.
rs1491292615 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:6537991
(GRCh38)
1:6598051
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6537990:CA:
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00347/51
(TOMMO)
- HGVS:
11.
rs1491286399 has merged into rs796666090 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 1:6527647
(GRCh38)
1:6587707
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6527639:AAAAAAAAAA:AAAAAAA,NC_000001.11:6527639:AAAAAAAAAA:AAAAAAAA,NC_000001.11:6527639:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:6527639:AAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:6527639:AAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:6527639:AAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.6527647_6527649del, NC_000001.11:g.6527648_6527649del, NC_000001.11:g.6527649del, NC_000001.11:g.6527649dup, NC_000001.11:g.6527648_6527649dup, NC_000001.11:g.6527647_6527649dup, NC_000001.10:g.6587707_6587709del, NC_000001.10:g.6587708_6587709del, NC_000001.10:g.6587709del, NC_000001.10:g.6587709dup, NC_000001.10:g.6587708_6587709dup, NC_000001.10:g.6587707_6587709dup
12.
rs1491267681 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:6556384
(GRCh38)
1:6616445
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6556384::C
- Gene:
- NOL9 (Varview), TAS1R1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00023/1
(
ALFA)
C=0.0001/6
(GnomAD)
C=0.00023/1
(Estonian)
- HGVS:
13.
rs1491211287 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:6550684
(GRCh38)
1:6610745
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6550684::C
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00106/7
(GnomAD)
- HGVS:
14.
rs1491188861 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 1:6556385
(GRCh38)
1:6616445
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6556383:TTT:T
- Gene:
- NOL9 (Varview), TAS1R1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
-=0.00094/6
(1000Genomes)
-=0.00107/42
(GnomAD)
- HGVS:
15.
rs1491135983 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGCA
[Show Flanks]
- Chromosome:
- 1:6544540
(GRCh38)
1:6604601
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6544540:GCA:GCATGCA
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GCATGCA=0.00008/1
(
ALFA)
GCAT=0.00055/5
(GnomAD)
- HGVS:
16.
rs1491135555 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:6538018
(GRCh38)
1:6598079
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6538018:T:TT
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000018/2
(GnomAD)
- HGVS:
18.
rs1490982797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:6539119
(GRCh38)
1:6599179
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6539118:T:C
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490941196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 1:6524750
(GRCh38)
1:6584810
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6524749:T:A,NC_000001.11:6524749:T:G
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.6524750T>A, NC_000001.11:g.6524750T>G, NC_000001.10:g.6584810T>A, NC_000001.10:g.6584810T>G, NG_007978.1:g.260A>T, NG_007978.1:g.260A>C, NM_024654.5:c.*1104A>T, NM_024654.5:c.*1104A>C, NM_024654.4:c.*1104A>T, NM_024654.4:c.*1104A>C, XM_005263493.5:c.*1104A>T, XM_005263493.5:c.*1104A>C, XM_005263493.4:c.*1104A>T, XM_005263493.4:c.*1104A>C, XM_011542147.4:c.*1104A>T, XM_011542147.4:c.*1104A>C, XM_011542147.3:c.*1104A>T, XM_011542147.3:c.*1104A>C, XM_047430565.1:c.*1104A>T, XM_047430565.1:c.*1104A>C, XM_047430556.1:c.*1104A>T, XM_047430556.1:c.*1104A>C
20.
rs1490903311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:6552191
(GRCh38)
1:6612251
(GRCh37)
- Canonical SPDI:
- NC_000001.11:6552190:C:T
- Gene:
- NOL9 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS: