Links from Nucleotide
Items: 1 to 20 of 9742
1.
rs1491444358 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- X:15748741
(GRCh38)
X:15766865
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15748741:AAAAAAAA:AAAAAAAAA
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAAAA=0.00017/2
(
ALFA)
A=0.00064/18
(GnomAD)
- HGVS:
3.
rs1491340294 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- X:15766155
(GRCh38)
X:15784278
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15766154:CA:
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00767/91
(
ALFA)
-=0.00299/66
(TOMMO)
- HGVS:
4.
rs1491230024 has merged into rs565940460 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCCCCCCC>-,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC
[Show Flanks]
- Chromosome:
- X:15748711
(GRCh38)
X:15766834
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15748708:CCCCCCCCCCC:CC,NC_000023.11:15748708:CCCCCCCCCCC:CCCCCCCC,NC_000023.11:15748708:CCCCCCCCCCC:CCCCCCCCC,NC_000023.11:15748708:CCCCCCCCCCC:CCCCCCCCCC,NC_000023.11:15748708:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000023.11:15748708:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000023.11:15748708:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000023.11:15748708:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000023.11:15748708:CCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000023.11:15748708:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000023.11:15748708:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCC=0./0
(
ALFA)
-=0.03258/123
(1000Genomes)
CC=0.07895/3
(GENOME_DK)
- HGVS:
NC_000023.11:g.15748711_15748719del, NC_000023.11:g.15748717_15748719del, NC_000023.11:g.15748718_15748719del, NC_000023.11:g.15748719del, NC_000023.11:g.15748719dup, NC_000023.11:g.15748718_15748719dup, NC_000023.11:g.15748717_15748719dup, NC_000023.11:g.15748716_15748719dup, NC_000023.11:g.15748714_15748719dup, NC_000023.11:g.15748711_15748719dup, NC_000023.11:g.15748719_15748720insCCCCCCCCCCCCCCCC, NC_000023.10:g.15766834_15766842del, NC_000023.10:g.15766840_15766842del, NC_000023.10:g.15766841_15766842del, NC_000023.10:g.15766842del, NC_000023.10:g.15766842dup, NC_000023.10:g.15766841_15766842dup, NC_000023.10:g.15766840_15766842dup, NC_000023.10:g.15766839_15766842dup, NC_000023.10:g.15766837_15766842dup, NC_000023.10:g.15766834_15766842dup, NC_000023.10:g.15766842_15766843insCCCCCCCCCCCCCCCC, NG_012766.1:g.15423_15431del, NG_012766.1:g.15429_15431del, NG_012766.1:g.15430_15431del, NG_012766.1:g.15431del, NG_012766.1:g.15431dup, NG_012766.1:g.15430_15431dup, NG_012766.1:g.15429_15431dup, NG_012766.1:g.15428_15431dup, NG_012766.1:g.15426_15431dup, NG_012766.1:g.15423_15431dup, NG_012766.1:g.15431_15432insCCCCCCCCCCCCCCCC
5.
rs1491187227 has merged into rs58783397 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- X:15766165
(GRCh38)
X:15784288
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:15766155:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AA=0.0062/18
(ALSPAC)
AA=0.0065/24
(TWINSUK)
- HGVS:
NC_000023.11:g.15766165_15766178del, NC_000023.11:g.15766166_15766178del, NC_000023.11:g.15766169_15766178del, NC_000023.11:g.15766170_15766178del, NC_000023.11:g.15766171_15766178del, NC_000023.11:g.15766173_15766178del, NC_000023.11:g.15766174_15766178del, NC_000023.11:g.15766175_15766178del, NC_000023.11:g.15766176_15766178del, NC_000023.11:g.15766177_15766178del, NC_000023.11:g.15766178del, NC_000023.11:g.15766178dup, NC_000023.11:g.15766177_15766178dup, NC_000023.11:g.15766176_15766178dup, NC_000023.10:g.15784288_15784301del, NC_000023.10:g.15784289_15784301del, NC_000023.10:g.15784292_15784301del, NC_000023.10:g.15784293_15784301del, NC_000023.10:g.15784294_15784301del, NC_000023.10:g.15784296_15784301del, NC_000023.10:g.15784297_15784301del, NC_000023.10:g.15784298_15784301del, NC_000023.10:g.15784299_15784301del, NC_000023.10:g.15784300_15784301del, NC_000023.10:g.15784301del, NC_000023.10:g.15784301dup, NC_000023.10:g.15784300_15784301dup, NC_000023.10:g.15784299_15784301dup, NG_012766.1:g.32877_32890del, NG_012766.1:g.32878_32890del, NG_012766.1:g.32881_32890del, NG_012766.1:g.32882_32890del, NG_012766.1:g.32883_32890del, NG_012766.1:g.32885_32890del, NG_012766.1:g.32886_32890del, NG_012766.1:g.32887_32890del, NG_012766.1:g.32888_32890del, NG_012766.1:g.32889_32890del, NG_012766.1:g.32890del, NG_012766.1:g.32890dup, NG_012766.1:g.32889_32890dup, NG_012766.1:g.32888_32890dup, NR_160545.1:n.2494_2507del, NR_160545.1:n.2495_2507del, NR_160545.1:n.2498_2507del, NR_160545.1:n.2499_2507del, NR_160545.1:n.2500_2507del, NR_160545.1:n.2502_2507del, NR_160545.1:n.2503_2507del, NR_160545.1:n.2504_2507del, NR_160545.1:n.2505_2507del, NR_160545.1:n.2506_2507del, NR_160545.1:n.2507del, NR_160545.1:n.2507dup, NR_160545.1:n.2506_2507dup, NR_160545.1:n.2505_2507dup
6.
rs1490990784 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- X:15749666
(GRCh38)
X:15767789
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15749664:TGT:T
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000187/2
(
ALFA)
-=0.00001/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
7.
rs1490906274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- X:15757620
(GRCh38)
X:15775743
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15757619:A:C,NC_000023.11:15757619:A:G
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
8.
rs1490905356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:15775756
(GRCh38)
X:15793879
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15775755:C:T
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
9.
rs1490793829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- X:15749030
(GRCh38)
X:15767153
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15749029:C:A,NC_000023.11:15749029:C:G
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
10.
rs1490610885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:15747421
(GRCh38)
X:15765544
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15747420:C:A
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
11.
rs1490370401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:15785705
(GRCh38)
X:15803828
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15785704:C:T
- Gene:
- INE2 (Varview), CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
12.
rs1490362370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:15745156
(GRCh38)
X:15763279
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15745155:G:A
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/2
(GnomAD)
A=0.00021/1
(1000Genomes)
- HGVS:
13.
rs1490315942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- X:15767904
(GRCh38)
X:15786027
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15767903:T:C,NC_000023.11:15767903:T:G
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000026/2
(GnomAD)
- HGVS:
14.
rs1490287877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:15748479
(GRCh38)
X:15766602
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15748478:T:C
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
15.
rs1490073325 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTTA>-
[Show Flanks]
- Chromosome:
- X:15788139
(GRCh38)
X:15806262
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15788132:AGTTTAGTTTA:AGTTTA
- Gene:
- INE2 (Varview), CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AGTTTA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489905781 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:15787572
(GRCh38)
X:15805695
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15787571:A:G
- Gene:
- INE2 (Varview), CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000034/9
(TOPMED)
G=0.000048/5
(GnomAD)
- HGVS:
18.
rs1489725554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:15758215
(GRCh38)
X:15776338
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15758214:A:C
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
19.
rs1489649932 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:15759042
(GRCh38)
X:15777165
(GRCh37)
- Canonical SPDI:
- NC_000023.11:15759041:A:G
- Gene:
- CA5B (Varview), CA5BP1-CA5B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000019/2
(GnomAD)
- HGVS: