Links from Gene
Items: 1 to 20 of 24084
1.
rs1491587786 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACTC,ACTCTC,ACTCTCTC,ACTCTCTCTC,ACTCTCTCTCTC,ACTCTCTCTCTCTC,ACTCTCTCTCTCTCTC,ACTCTCTCTCTCTCTCTC,ACTCTCTCTCTCTCTCTCTCTC,ACTCTCTCTCTCTCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 4:14909697
(GRCh38)
4:14911322
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14909697:C:CACTC,NC_000004.12:14909697:C:CACTCTC,NC_000004.12:14909697:C:CACTCTCTC,NC_000004.12:14909697:C:CACTCTCTCTC,NC_000004.12:14909697:C:CACTCTCTCTCTC,NC_000004.12:14909697:C:CACTCTCTCTCTCTC,NC_000004.12:14909697:C:CACTCTCTCTCTCTCTC,NC_000004.12:14909697:C:CACTCTCTCTCTCTCTCTC,NC_000004.12:14909697:C:CACTCTCTCTCTCTCTCTCTCTC,NC_000004.12:14909697:C:CACTCTCTCTCTCTCTCTCTCTCTC
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.14909698_14909699insACTC, NC_000004.12:g.14909698_14909699insACTCTC, NC_000004.12:g.14909698_14909699insACTCTCTC, NC_000004.12:g.14909698_14909699insACTCTCTCTC, NC_000004.12:g.14909698_14909699insACTCTCTCTCTC, NC_000004.12:g.14909698_14909699insACTCTCTCTCTCTC, NC_000004.12:g.14909698_14909699insACTCTCTCTCTCTCTC, NC_000004.12:g.14909698_14909699insACTCTCTCTCTCTCTCTC, NC_000004.12:g.14909698_14909699insACTCTCTCTCTCTCTCTCTCTC, NC_000004.12:g.14909698_14909699insACTCTCTCTCTCTCTCTCTCTCTC, NC_000004.11:g.14911322_14911323insACTC, NC_000004.11:g.14911322_14911323insACTCTC, NC_000004.11:g.14911322_14911323insACTCTCTC, NC_000004.11:g.14911322_14911323insACTCTCTCTC, NC_000004.11:g.14911322_14911323insACTCTCTCTCTC, NC_000004.11:g.14911322_14911323insACTCTCTCTCTCTC, NC_000004.11:g.14911322_14911323insACTCTCTCTCTCTCTC, NC_000004.11:g.14911322_14911323insACTCTCTCTCTCTCTCTC, NC_000004.11:g.14911322_14911323insACTCTCTCTCTCTCTCTCTCTC, NC_000004.11:g.14911322_14911323insACTCTCTCTCTCTCTCTCTCTCTC
2.
rs1491579739 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 4:14909696
(GRCh38)
4:14911321
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14909696:AC:ACAC
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAC=0./0
(
ALFA)
AC=0.00078/5
(1000Genomes)
AC=0.00149/124
(GnomAD)
- HGVS:
3.
rs1491568497 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 4:14932091
(GRCh38)
4:14933715
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14932090:AA:
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00015/6
(GnomAD)
- HGVS:
6.
rs1491562430 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 4:14923213
(GRCh38)
4:14924837
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14923211:AGA:A
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00045/4
(TOMMO)
- HGVS:
7.
rs1491561604 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TAAATAATAT,TT
[Show Flanks]
- Chromosome:
- 4:14932071
(GRCh38)
4:14933696
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14932071::TAAATAATAT,NC_000004.12:14932071::TT
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAAATAATAT=0.00025/3
(
ALFA)
TT=0.00017/14
(GnomAD)
- HGVS:
10.
rs1491542781 has merged into rs372472114 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA,TATATA
[Show Flanks]
- Chromosome:
- 4:14923552
(GRCh38)
4:14925176
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14923544:ATATATATA:ATATATA,NC_000004.12:14923544:ATATATATA:ATATATATATA,NC_000004.12:14923544:ATATATATA:ATATATATATATA
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATA=0./0
(
ALFA)
AT=0.0001/1
(TOMMO)
AT=0.1691/847
(1000Genomes)
- HGVS:
11.
rs1491527730 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 4:14960242
(GRCh38)
4:14961866
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14960241:GT:
- Gene:
- CPEB2-DT (Varview), LOC105374498 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00337/6
(Korea1K)
- HGVS:
12.
rs1491527057 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T
[Show Flanks]
- Chromosome:
- 4:14932100
(GRCh38)
4:14933724
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14932098:TTTT:T,NC_000004.12:14932098:TTTT:TT
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
13.
rs1491517167 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GATA,GGATA
[Show Flanks]
- Chromosome:
- 4:14923238
(GRCh38)
4:14924863
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14923238:ATA:ATAGATA,NC_000004.12:14923238:ATA:ATAGGATA
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAGGATA=0./0
(
ALFA)
ATAG=0.00045/16
(GnomAD)
- HGVS:
14.
rs1491501369 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTATATTTAT
[Show Flanks]
- Chromosome:
- 4:14923615
(GRCh38)
4:14925240
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14923615:TAT:TATGTATATTTAT
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATGTATATTTAT=0.00126/15
(
ALFA)
TATGTATATT=0.00004/2
(GnomAD)
- HGVS:
15.
rs1491470902 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 4:14923732
(GRCh38)
4:14925357
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14923732:T:TTT
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
TT=0.00003/1
(GnomAD)
- HGVS:
16.
rs1491470810 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 4:14914741
(GRCh38)
4:14916365
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14914740:AC:
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000169/2
(
ALFA)
-=0.000019/2
(GnomAD)
- HGVS:
18.
rs1491382713 has merged into rs369169125 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA,TATATATA,TATATTTATATATAGTTATATATCATATAATTATATATAAATATATATATATATA,TATATTTATATATAGTTATATATCATATAATTATATATAAATATATATATATATATA
[Show Flanks]
- Chromosome:
- 4:14923655
(GRCh38)
4:14925279
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14923649:ATATATATA:ATATA,NC_000004.12:14923649:ATATATATA:ATATATA,NC_000004.12:14923649:ATATATATA:ATATATATATA,NC_000004.12:14923649:ATATATATA:ATATATATATATA,NC_000004.12:14923649:ATATATATA:ATATATATATTTATATATAGTTATATATCATATAATTATATATAAATATATATATATATA,NC_000004.12:14923649:ATATATATA:ATATATATATTTATATATAGTTATATATCATATAATTATATATAAATATATATATATATATA
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATA=0./0
(
ALFA)
ATAT=0.02955/148
(1000Genomes)
- HGVS:
NC_000004.12:g.14923651TA[2], NC_000004.12:g.14923651TA[3], NC_000004.12:g.14923651TA[5], NC_000004.12:g.14923651TA[6], NC_000004.12:g.14923650_14923658AT[5]TTATATATAGTTATATATCATATAATTATATATAAATATATATATATATA[1], NC_000004.12:g.14923650_14923658AT[5]TTATATATAGTTATATATCATATAATTATATATAAATATATATATATATATA[1], NC_000004.11:g.14925275TA[2], NC_000004.11:g.14925275TA[3], NC_000004.11:g.14925275TA[5], NC_000004.11:g.14925275TA[6], NC_000004.11:g.14925274_14925282AT[5]TTATATATAGTTATATATCATATAATTATATATAAATATATATATATATA[1], NC_000004.11:g.14925274_14925282AT[5]TTATATATAGTTATATATCATATAATTATATATAAATATATATATATATATA[1]
19.
rs1491373180 has merged into rs35956611 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 4:14992444
(GRCh38)
4:14994068
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14992433:AAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:14992433:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:14992433:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:14992433:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:14992433:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.02906/29
(GoNL)
A=0.04/24
(NorthernSweden)
A=0.05/2
(GENOME_DK)
A=0.16733/838
(1000Genomes)
-=0.47664/102
(Vietnamese)
- HGVS:
NC_000004.12:g.14992444_14992445del, NC_000004.12:g.14992445del, NC_000004.12:g.14992445dup, NC_000004.12:g.14992444_14992445dup, NC_000004.12:g.14992443_14992445dup, NC_000004.11:g.14994068_14994069del, NC_000004.11:g.14994069del, NC_000004.11:g.14994069dup, NC_000004.11:g.14994068_14994069dup, NC_000004.11:g.14994067_14994069dup, NW_013171799.1:g.64338_64339del, NW_013171799.1:g.64339del, NW_013171799.1:g.64339dup, NW_013171799.1:g.64338_64339dup, NW_013171799.1:g.64337_64339dup
20.
rs1491365056 has merged into rs10565362 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT>-,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 4:14948855
(GRCh38)
4:14950479
(GRCh37)
- Canonical SPDI:
- NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:14948841:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
- Gene:
- CPEB2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCTCTCTCTCTCTCT=0./0
(
ALFA)
TCTCTCTCTCTCTCTC=0./0
(GENOME_DK)
- HGVS:
NC_000004.12:g.14948843CT[6], NC_000004.12:g.14948843CT[12], NC_000004.12:g.14948843CT[13], NC_000004.12:g.14948843CT[14], NC_000004.12:g.14948843CT[15], NC_000004.12:g.14948843CT[16], NC_000004.12:g.14948843CT[17], NC_000004.12:g.14948843CT[18], NC_000004.12:g.14948843CT[19], NC_000004.12:g.14948843CT[20], NC_000004.12:g.14948843CT[21], NC_000004.12:g.14948843CT[22], NC_000004.12:g.14948843CT[23], NC_000004.12:g.14948843CT[24], NC_000004.12:g.14948843CT[26], NC_000004.12:g.14948843CT[27], NC_000004.12:g.14948843CT[28], NC_000004.12:g.14948843CT[29], NC_000004.12:g.14948843CT[34], NC_000004.11:g.14950467CT[6], NC_000004.11:g.14950467CT[12], NC_000004.11:g.14950467CT[13], NC_000004.11:g.14950467CT[14], NC_000004.11:g.14950467CT[15], NC_000004.11:g.14950467CT[16], NC_000004.11:g.14950467CT[17], NC_000004.11:g.14950467CT[18], NC_000004.11:g.14950467CT[19], NC_000004.11:g.14950467CT[20], NC_000004.11:g.14950467CT[21], NC_000004.11:g.14950467CT[22], NC_000004.11:g.14950467CT[23], NC_000004.11:g.14950467CT[24], NC_000004.11:g.14950467CT[26], NC_000004.11:g.14950467CT[27], NC_000004.11:g.14950467CT[28], NC_000004.11:g.14950467CT[29], NC_000004.11:g.14950467CT[34], NW_013171799.1:g.17396CT[25], NW_013171799.1:g.17396CT[6], NW_013171799.1:g.17396CT[12], NW_013171799.1:g.17396CT[13], NW_013171799.1:g.17396CT[14], NW_013171799.1:g.17396CT[15], NW_013171799.1:g.17396CT[16], NW_013171799.1:g.17396CT[17], NW_013171799.1:g.17396CT[18], NW_013171799.1:g.17396CT[20], NW_013171799.1:g.17396CT[21], NW_013171799.1:g.17396CT[22], NW_013171799.1:g.17396CT[23], NW_013171799.1:g.17396CT[24], NW_013171799.1:g.17396CT[26], NW_013171799.1:g.17396CT[27], NW_013171799.1:g.17396CT[28], NW_013171799.1:g.17396CT[29], NW_013171799.1:g.17396CT[34]