Links from Gene
Items: 1 to 20 of 6169
1.
rs1491507670 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTGTGTGT
[Show Flanks]
- Chromosome:
- 3:150611005
(GRCh38)
3:150328793
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150611005:TGTGTGT:TGTGTGTCTGTGTGT
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGTCTGTGTGT=0./0
(
ALFA)
TGTGTGTC=0.000011/3
(TOPMED)
- HGVS:
2.
rs1491449772 has merged into rs113532087 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 3:150611019
(GRCh38)
3:150328806
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:150611004:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.150611005GT[7], NC_000003.12:g.150611005GT[8], NC_000003.12:g.150611005GT[9], NC_000003.12:g.150611005GT[10], NC_000003.12:g.150611005GT[11], NC_000003.12:g.150611005GT[12], NC_000003.12:g.150611005GT[13], NC_000003.12:g.150611005GT[14], NC_000003.12:g.150611005GT[15], NC_000003.12:g.150611005GT[17], NC_000003.12:g.150611005GT[18], NC_000003.12:g.150611005GT[19], NC_000003.12:g.150611005GT[20], NC_000003.12:g.150611005GT[21], NC_000003.12:g.150611005GT[22], NC_000003.12:g.150611005GT[23], NC_000003.12:g.150611005GT[24], NC_000003.12:g.150611005GT[25], NC_000003.12:g.150611005GT[26], NC_000003.12:g.150611005GT[27], NC_000003.11:g.150328792GT[7], NC_000003.11:g.150328792GT[8], NC_000003.11:g.150328792GT[9], NC_000003.11:g.150328792GT[10], NC_000003.11:g.150328792GT[11], NC_000003.11:g.150328792GT[12], NC_000003.11:g.150328792GT[13], NC_000003.11:g.150328792GT[14], NC_000003.11:g.150328792GT[15], NC_000003.11:g.150328792GT[17], NC_000003.11:g.150328792GT[18], NC_000003.11:g.150328792GT[19], NC_000003.11:g.150328792GT[20], NC_000003.11:g.150328792GT[21], NC_000003.11:g.150328792GT[22], NC_000003.11:g.150328792GT[23], NC_000003.11:g.150328792GT[24], NC_000003.11:g.150328792GT[25], NC_000003.11:g.150328792GT[26], NC_000003.11:g.150328792GT[27], NG_005531.4:g.1144AC[7], NG_005531.4:g.1144AC[8], NG_005531.4:g.1144AC[9], NG_005531.4:g.1144AC[10], NG_005531.4:g.1144AC[11], NG_005531.4:g.1144AC[12], NG_005531.4:g.1144AC[13], NG_005531.4:g.1144AC[14], NG_005531.4:g.1144AC[15], NG_005531.4:g.1144AC[17], NG_005531.4:g.1144AC[18], NG_005531.4:g.1144AC[19], NG_005531.4:g.1144AC[20], NG_005531.4:g.1144AC[21], NG_005531.4:g.1144AC[22], NG_005531.4:g.1144AC[23], NG_005531.4:g.1144AC[24], NG_005531.4:g.1144AC[25], NG_005531.4:g.1144AC[26], NG_005531.4:g.1144AC[27]
3.
rs1491428325 has merged into rs78544518 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 3:150627910
(GRCh38)
3:150345697
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150627901:TTTTTTTTTT:TTTTTTTT,NC_000003.12:150627901:TTTTTTTTTT:TTTTTTTTT,NC_000003.12:150627901:TTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:150627901:TTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
T=0.00006/1
(TOMMO)
- HGVS:
NC_000003.12:g.150627910_150627911del, NC_000003.12:g.150627911del, NC_000003.12:g.150627911dup, NC_000003.12:g.150627910_150627911dup, NC_000003.11:g.150345697_150345698del, NC_000003.11:g.150345698del, NC_000003.11:g.150345698dup, NC_000003.11:g.150345697_150345698dup, NM_016275.5:c.*281_*282del, NM_016275.5:c.*282del, NM_016275.5:c.*282dup, NM_016275.5:c.*281_*282dup, NM_016275.4:c.*281_*282del, NM_016275.4:c.*282del, NM_016275.4:c.*282dup, NM_016275.4:c.*281_*282dup, NM_016275.3:c.*281_*282del, NM_016275.3:c.*282del, NM_016275.3:c.*282dup, NM_016275.3:c.*281_*282dup
4.
rs1491314251 has merged into rs761458301 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:150619231
(GRCh38)
3:150337018
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:150619220:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.425/17
(GENOME_DK)
- HGVS:
NC_000003.12:g.150619231_150619238del, NC_000003.12:g.150619233_150619238del, NC_000003.12:g.150619234_150619238del, NC_000003.12:g.150619235_150619238del, NC_000003.12:g.150619236_150619238del, NC_000003.12:g.150619237_150619238del, NC_000003.12:g.150619238del, NC_000003.12:g.150619238dup, NC_000003.12:g.150619237_150619238dup, NC_000003.12:g.150619236_150619238dup, NC_000003.11:g.150337018_150337025del, NC_000003.11:g.150337020_150337025del, NC_000003.11:g.150337021_150337025del, NC_000003.11:g.150337022_150337025del, NC_000003.11:g.150337023_150337025del, NC_000003.11:g.150337024_150337025del, NC_000003.11:g.150337025del, NC_000003.11:g.150337025dup, NC_000003.11:g.150337024_150337025dup, NC_000003.11:g.150337023_150337025dup
5.
rs1491129386 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 3:150627902
(GRCh38)
3:150345690
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150627902::G
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000184/3
(
ALFA)
G=0.000283/5
(TOMMO)
G=0.000446/118
(TOPMED)
G=0.000477/66
(GnomAD)
G=0.000546/1
(Korea1K)
G=0.001093/7
(1000Genomes)
- HGVS:
6.
rs1491059186 has merged into rs35489270 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:150621624
(GRCh38)
3:150339411
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150621614:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.150621624_150621636del, NC_000003.12:g.150621625_150621636del, NC_000003.12:g.150621626_150621636del, NC_000003.12:g.150621627_150621636del, NC_000003.12:g.150621628_150621636del, NC_000003.12:g.150621629_150621636del, NC_000003.12:g.150621630_150621636del, NC_000003.12:g.150621631_150621636del, NC_000003.12:g.150621632_150621636del, NC_000003.12:g.150621633_150621636del, NC_000003.12:g.150621634_150621636del, NC_000003.12:g.150621635_150621636del, NC_000003.12:g.150621636del, NC_000003.12:g.150621636dup, NC_000003.12:g.150621635_150621636dup, NC_000003.12:g.150621634_150621636dup, NC_000003.12:g.150621633_150621636dup, NC_000003.12:g.150621632_150621636dup, NC_000003.12:g.150621631_150621636dup, NC_000003.12:g.150621630_150621636dup, NC_000003.12:g.150621629_150621636dup, NC_000003.12:g.150621628_150621636dup, NC_000003.12:g.150621627_150621636dup, NC_000003.12:g.150621626_150621636dup, NC_000003.12:g.150621625_150621636dup, NC_000003.12:g.150621620_150621636dup, NC_000003.12:g.150621618_150621636dup, NC_000003.12:g.150621636_150621637insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.150621615_150621636T[45]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.150621636_150621637insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.150621636_150621637insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.150621636_150621637insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.150621636_150621637insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150339411_150339423del, NC_000003.11:g.150339412_150339423del, NC_000003.11:g.150339413_150339423del, NC_000003.11:g.150339414_150339423del, NC_000003.11:g.150339415_150339423del, NC_000003.11:g.150339416_150339423del, NC_000003.11:g.150339417_150339423del, NC_000003.11:g.150339418_150339423del, NC_000003.11:g.150339419_150339423del, NC_000003.11:g.150339420_150339423del, NC_000003.11:g.150339421_150339423del, NC_000003.11:g.150339422_150339423del, NC_000003.11:g.150339423del, NC_000003.11:g.150339423dup, NC_000003.11:g.150339422_150339423dup, NC_000003.11:g.150339421_150339423dup, NC_000003.11:g.150339420_150339423dup, NC_000003.11:g.150339419_150339423dup, NC_000003.11:g.150339418_150339423dup, NC_000003.11:g.150339417_150339423dup, NC_000003.11:g.150339416_150339423dup, NC_000003.11:g.150339415_150339423dup, NC_000003.11:g.150339414_150339423dup, NC_000003.11:g.150339413_150339423dup, NC_000003.11:g.150339412_150339423dup, NC_000003.11:g.150339407_150339423dup, NC_000003.11:g.150339405_150339423dup, NC_000003.11:g.150339423_150339424insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150339402_150339423T[45]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150339423_150339424insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150339423_150339424insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150339423_150339424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150339423_150339424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491051097 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:150611037
(GRCh38)
3:150328824
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150611035:TAT:T
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000169/2
(
ALFA)
-=0.000079/11
(GnomAD)
- HGVS:
8.
rs1491047480 has merged into rs34182257 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 3:150630887
(GRCh38)
3:150348674
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150630876:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:150630876:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:150630876:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:150630876:TTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0.00039/2
(
ALFA)
T=0.00025/4
(TOMMO)
T=0.14011/540
(ALSPAC)
T=0.1459/541
(TWINSUK)
T=0.17261/837
(1000Genomes)
- HGVS:
9.
rs1491018836 has merged into rs34698339 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:150625884
(GRCh38)
3:150343671
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:150625870:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.386/1933
(1000Genomes)
- HGVS:
NC_000003.12:g.150625884_150625887del, NC_000003.12:g.150625885_150625887del, NC_000003.12:g.150625886_150625887del, NC_000003.12:g.150625887del, NC_000003.12:g.150625887dup, NC_000003.12:g.150625886_150625887dup, NC_000003.12:g.150625885_150625887dup, NC_000003.12:g.150625884_150625887dup, NC_000003.12:g.150625883_150625887dup, NC_000003.12:g.150625882_150625887dup, NC_000003.12:g.150625880_150625887dup, NC_000003.11:g.150343671_150343674del, NC_000003.11:g.150343672_150343674del, NC_000003.11:g.150343673_150343674del, NC_000003.11:g.150343674del, NC_000003.11:g.150343674dup, NC_000003.11:g.150343673_150343674dup, NC_000003.11:g.150343672_150343674dup, NC_000003.11:g.150343671_150343674dup, NC_000003.11:g.150343670_150343674dup, NC_000003.11:g.150343669_150343674dup, NC_000003.11:g.150343667_150343674dup
10.
rs1491004815 has merged into rs10663245 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT
[Show Flanks]
- Chromosome:
- 3:150623599
(GRCh38)
3:150341386
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150623592:CTCTCTCT:CTCTCT,NC_000003.12:150623592:CTCTCTCT:CTCTCTCTCT
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTCTCT=0.00022/1
(
ALFA)
CT=0./0
(ALSPAC)
CT=0./0
(GENOME_DK)
CT=0./0
(GoNL)
CT=0./0
(Korea1K)
CT=0./0
(NorthernSweden)
CT=0./0
(TWINSUK)
CT=0.00022/1
(Estonian)
CT=0.9998/5007
(1000Genomes)
CT=0.99988/16758
(TOMMO)
- HGVS:
11.
rs1490989547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:150609753
(GRCh38)
3:150327540
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150609752:C:G
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490974167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:150609385
(GRCh38)
3:150327172
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150609384:T:C
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
C=0.000283/5
(TOMMO)
C=0.000546/1
(Korea1K)
- HGVS:
13.
rs1490929986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:150624525
(GRCh38)
3:150342312
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150624524:A:G
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490389968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:150615912
(GRCh38)
3:150333699
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150615911:A:G
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490201688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:150616449
(GRCh38)
3:150334236
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150616448:C:T
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/2
(GnomAD)
T=0.000312/2
(1000Genomes)
- HGVS:
16.
rs1490188833 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 3:150605422
(GRCh38)
3:150323209
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150605421:GGG:GG
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490127979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:150608419
(GRCh38)
3:150326206
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150608418:A:G
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
18.
rs1490112024 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:150623828
(GRCh38)
3:150341615
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150623827:T:C
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490044039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:150627557
(GRCh38)
3:150345344
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150627556:G:A,NC_000003.12:150627556:G:T
- Gene:
- SELENOT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000156/1
(1000Genomes)
T=0.000743/12
(TOMMO)
- HGVS:
20.
rs1489970506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:150621767
(GRCh38)
3:150339554
(GRCh37)
- Canonical SPDI:
- NC_000003.12:150621766:G:A
- Gene:
- SELENOT (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: