Links from Nucleotide
Items: 1 to 20 of 11946
2.
rs1491554740 has merged into rs373279256 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTTT
[Show Flanks]
- Chromosome:
- 1:48762614
(GRCh38)
1:49228286
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48762611:TTTT:TT,NC_000001.11:48762611:TTTT:TTT,NC_000001.11:48762611:TTTT:TTTTTT
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0.00173/28
(
ALFA)
-=0.00471/76
(TOMMO)
- HGVS:
3.
rs1491469927 has merged into rs558937968 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 1:48769544
(GRCh38)
1:49235216
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:48769526:ACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACACA=0./0
(
ALFA)
AC=0.3484/1745
(1000Genomes)
- HGVS:
NC_000001.11:g.48769528CA[8], NC_000001.11:g.48769528CA[11], NC_000001.11:g.48769528CA[12], NC_000001.11:g.48769528CA[13], NC_000001.11:g.48769528CA[14], NC_000001.11:g.48769528CA[15], NC_000001.11:g.48769528CA[16], NC_000001.11:g.48769528CA[17], NC_000001.11:g.48769528CA[18], NC_000001.11:g.48769528CA[19], NC_000001.11:g.48769528CA[20], NC_000001.11:g.48769528CA[21], NC_000001.11:g.48769528CA[23], NC_000001.11:g.48769528CA[24], NC_000001.11:g.48769528CA[25], NC_000001.11:g.48769528CA[26], NC_000001.11:g.48769528CA[27], NC_000001.11:g.48769528CA[28], NC_000001.11:g.48769528CA[29], NC_000001.11:g.48769528CA[30], NC_000001.11:g.48769528CA[31], NC_000001.11:g.48769528CA[32], NC_000001.11:g.48769528CA[33], NC_000001.10:g.49235200CA[8], NC_000001.10:g.49235200CA[11], NC_000001.10:g.49235200CA[12], NC_000001.10:g.49235200CA[13], NC_000001.10:g.49235200CA[14], NC_000001.10:g.49235200CA[15], NC_000001.10:g.49235200CA[16], NC_000001.10:g.49235200CA[17], NC_000001.10:g.49235200CA[18], NC_000001.10:g.49235200CA[19], NC_000001.10:g.49235200CA[20], NC_000001.10:g.49235200CA[21], NC_000001.10:g.49235200CA[23], NC_000001.10:g.49235200CA[24], NC_000001.10:g.49235200CA[25], NC_000001.10:g.49235200CA[26], NC_000001.10:g.49235200CA[27], NC_000001.10:g.49235200CA[28], NC_000001.10:g.49235200CA[29], NC_000001.10:g.49235200CA[30], NC_000001.10:g.49235200CA[31], NC_000001.10:g.49235200CA[32], NC_000001.10:g.49235200CA[33], NG_053063.1:g.14034GT[8], NG_053063.1:g.14034GT[11], NG_053063.1:g.14034GT[12], NG_053063.1:g.14034GT[13], NG_053063.1:g.14034GT[14], NG_053063.1:g.14034GT[15], NG_053063.1:g.14034GT[16], NG_053063.1:g.14034GT[17], NG_053063.1:g.14034GT[18], NG_053063.1:g.14034GT[19], NG_053063.1:g.14034GT[20], NG_053063.1:g.14034GT[21], NG_053063.1:g.14034GT[23], NG_053063.1:g.14034GT[24], NG_053063.1:g.14034GT[25], NG_053063.1:g.14034GT[26], NG_053063.1:g.14034GT[27], NG_053063.1:g.14034GT[28], NG_053063.1:g.14034GT[29], NG_053063.1:g.14034GT[30], NG_053063.1:g.14034GT[31], NG_053063.1:g.14034GT[32], NG_053063.1:g.14034GT[33]
4.
rs1491349729 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:48769571
(GRCh38)
1:49235243
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48769570:AA:
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000031/4
(GnomAD)
-=0.000177/3
(TOMMO)
-=0.001092/2
(Korea1K)
- HGVS:
5.
rs1491337703 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CAC,CACAC,CACACAC,CACACACACACAC,CACACACACACACAC
[Show Flanks]
- Chromosome:
- 1:48769571
(GRCh38)
1:49235244
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48769571::C,NC_000001.11:48769571::CAC,NC_000001.11:48769571::CACAC,NC_000001.11:48769571::CACACAC,NC_000001.11:48769571::CACACACACACAC,NC_000001.11:48769571::CACACACACACACAC
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000607/1
(Korea1K)
- HGVS:
NC_000001.11:g.48769571_48769572insC, NC_000001.11:g.48769571_48769572insCAC, NC_000001.11:g.48769571_48769572insCACAC, NC_000001.11:g.48769571_48769572insCACACAC, NC_000001.11:g.48769571_48769572insCACACACACACAC, NC_000001.11:g.48769571_48769572insCACACACACACACAC, NC_000001.10:g.49235243_49235244insC, NC_000001.10:g.49235243_49235244insCAC, NC_000001.10:g.49235243_49235244insCACAC, NC_000001.10:g.49235243_49235244insCACACAC, NC_000001.10:g.49235243_49235244insCACACACACACAC, NC_000001.10:g.49235243_49235244insCACACACACACACAC, NG_053063.1:g.14032_14033insG, NG_053063.1:g.14032_14033insGTG, NG_053063.1:g.14032_14033insGTGTG, NG_053063.1:g.14032_14033insGTGTGTG, NG_053063.1:g.14032_14033insGTGTGTGTGTGTG, NG_053063.1:g.14032_14033insGTGTGTGTGTGTGTG
7.
rs1491236178 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:48772482
(GRCh38)
1:49238155
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48772482:A:AA
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.000068/18
(TOPMED)
- HGVS:
8.
rs1491201325 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 1:48772487
(GRCh38)
1:49238159
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48772481:GAGAGAG:GAGAG
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGAG=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
10.
rs1491034663 has merged into rs11441549 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:48728495
(GRCh38)
1:49194167
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48728482:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:48728482:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:48728482:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:48728482:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:48728482:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:48728482:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:48728482:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:48728482:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:48728482:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.3057/1531
(1000Genomes)
- HGVS:
NC_000001.11:g.48728495_48728498del, NC_000001.11:g.48728496_48728498del, NC_000001.11:g.48728497_48728498del, NC_000001.11:g.48728498del, NC_000001.11:g.48728498dup, NC_000001.11:g.48728497_48728498dup, NC_000001.11:g.48728496_48728498dup, NC_000001.11:g.48728495_48728498dup, NC_000001.11:g.48728498_48728499insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.49194167_49194170del, NC_000001.10:g.49194168_49194170del, NC_000001.10:g.49194169_49194170del, NC_000001.10:g.49194170del, NC_000001.10:g.49194170dup, NC_000001.10:g.49194169_49194170dup, NC_000001.10:g.49194168_49194170dup, NC_000001.10:g.49194167_49194170dup, NC_000001.10:g.49194170_49194171insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053063.1:g.55118_55121del, NG_053063.1:g.55119_55121del, NG_053063.1:g.55120_55121del, NG_053063.1:g.55121del, NG_053063.1:g.55121dup, NG_053063.1:g.55120_55121dup, NG_053063.1:g.55119_55121dup, NG_053063.1:g.55118_55121dup, NG_053063.1:g.55121_55122insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
11.
rs1491026813 has merged into rs5774019 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG
[Show Flanks]
- Chromosome:
- 1:48745002
(GRCh38)
1:49210674
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48744996:GGGGGGG:GGGGG,NC_000001.11:48744996:GGGGGGG:GGGGGG,NC_000001.11:48744996:GGGGGGG:GGGGGGGG
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGG=0./0
(
ALFA)
-=0.172897/37
(Vietnamese)
G=0.175/7
(GENOME_DK)
G=0.217435/217
(GoNL)
G=0.228853/882
(ALSPAC)
G=0.231122/857
(TWINSUK)
G=0.239509/1073
(Estonian)
-=0.291485/534
(Korea1K)
-=0.317326/5318
(TOMMO)
G=0.326667/196
(NorthernSweden)
G=0.367052/97155
(TOPMED)
G=0.489906/2451
(1000Genomes)
- HGVS:
12.
rs1490992782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:48764375
(GRCh38)
1:49230047
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48764374:A:G
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490967014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:48764480
(GRCh38)
1:49230152
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48764479:T:C
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490811492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:48726426
(GRCh38)
1:49192098
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48726425:T:A,NC_000001.11:48726425:T:C
- Gene:
- AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
16.
rs1490806546 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:48738959
(GRCh38)
1:49204631
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48738958:T:C
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
17.
rs1490737544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:48766668
(GRCh38)
1:49232340
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48766667:C:A,NC_000001.11:48766667:C:T
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490727817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:48755887
(GRCh38)
1:49221559
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48755886:A:C
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1490693725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:48740186
(GRCh38)
1:49205858
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48740185:A:G
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490560070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:48755344
(GRCh38)
1:49221016
(GRCh37)
- Canonical SPDI:
- NC_000001.11:48755343:T:G
- Gene:
- BEND5 (Varview), AGBL4 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: