Links from Gene
Items: 1 to 20 of 28225
1.
rs1491576692 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:55503978
(GRCh38)
4:56370145
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55503977:TA:
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00025/6
(GnomAD)
- HGVS:
2.
rs1491548199 has merged into rs77210975 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 4:55522512
(GRCh38)
4:56388679
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55522504:AAAAAAAAAA:AAAAAAA,NC_000004.12:55522504:AAAAAAAAAA:AAAAAAAA,NC_000004.12:55522504:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:55522504:AAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:55522504:AAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:55522504:AAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
A=0.00244/10
(Estonian)
A=0.00491/9
(Korea1K)
- HGVS:
NC_000004.12:g.55522512_55522514del, NC_000004.12:g.55522513_55522514del, NC_000004.12:g.55522514del, NC_000004.12:g.55522514dup, NC_000004.12:g.55522513_55522514dup, NC_000004.12:g.55522512_55522514dup, NC_000004.11:g.56388679_56388681del, NC_000004.11:g.56388680_56388681del, NC_000004.11:g.56388681del, NC_000004.11:g.56388681dup, NC_000004.11:g.56388680_56388681dup, NC_000004.11:g.56388679_56388681dup
3.
rs1491518235 has merged into rs373796432 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:55531712
(GRCh38)
4:56397879
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:55531703:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000004.12:g.55531712_55531731del, NC_000004.12:g.55531714_55531731del, NC_000004.12:g.55531715_55531731del, NC_000004.12:g.55531716_55531731del, NC_000004.12:g.55531717_55531731del, NC_000004.12:g.55531718_55531731del, NC_000004.12:g.55531719_55531731del, NC_000004.12:g.55531720_55531731del, NC_000004.12:g.55531721_55531731del, NC_000004.12:g.55531722_55531731del, NC_000004.12:g.55531723_55531731del, NC_000004.12:g.55531724_55531731del, NC_000004.12:g.55531725_55531731del, NC_000004.12:g.55531726_55531731del, NC_000004.12:g.55531727_55531731del, NC_000004.12:g.55531728_55531731del, NC_000004.12:g.55531729_55531731del, NC_000004.12:g.55531730_55531731del, NC_000004.12:g.55531731del, NC_000004.12:g.55531731dup, NC_000004.12:g.55531730_55531731dup, NC_000004.12:g.55531729_55531731dup, NC_000004.12:g.55531728_55531731dup, NC_000004.12:g.55531727_55531731dup, NC_000004.12:g.55531726_55531731dup, NC_000004.12:g.55531725_55531731dup, NC_000004.12:g.55531724_55531731dup, NC_000004.12:g.55531723_55531731dup, NC_000004.12:g.55531722_55531731dup, NC_000004.12:g.55531721_55531731dup, NC_000004.12:g.55531720_55531731dup, NC_000004.12:g.55531717_55531731dup, NC_000004.12:g.55531709_55531731dup, NC_000004.11:g.56397879_56397898del, NC_000004.11:g.56397881_56397898del, NC_000004.11:g.56397882_56397898del, NC_000004.11:g.56397883_56397898del, NC_000004.11:g.56397884_56397898del, NC_000004.11:g.56397885_56397898del, NC_000004.11:g.56397886_56397898del, NC_000004.11:g.56397887_56397898del, NC_000004.11:g.56397888_56397898del, NC_000004.11:g.56397889_56397898del, NC_000004.11:g.56397890_56397898del, NC_000004.11:g.56397891_56397898del, NC_000004.11:g.56397892_56397898del, NC_000004.11:g.56397893_56397898del, NC_000004.11:g.56397894_56397898del, NC_000004.11:g.56397895_56397898del, NC_000004.11:g.56397896_56397898del, NC_000004.11:g.56397897_56397898del, NC_000004.11:g.56397898del, NC_000004.11:g.56397898dup, NC_000004.11:g.56397897_56397898dup, NC_000004.11:g.56397896_56397898dup, NC_000004.11:g.56397895_56397898dup, NC_000004.11:g.56397894_56397898dup, NC_000004.11:g.56397893_56397898dup, NC_000004.11:g.56397892_56397898dup, NC_000004.11:g.56397891_56397898dup, NC_000004.11:g.56397890_56397898dup, NC_000004.11:g.56397889_56397898dup, NC_000004.11:g.56397888_56397898dup, NC_000004.11:g.56397887_56397898dup, NC_000004.11:g.56397884_56397898dup, NC_000004.11:g.56397876_56397898dup
4.
rs1491502069 has merged into rs72445552 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-,ACAC
[Show Flanks]
- Chromosome:
- 4:55448594
(GRCh38)
4:56314761
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55448592:CAC:C,NC_000004.12:55448592:CAC:CACAC
- Gene:
- CLOCK (Varview), TMEM165 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACAC=0./0
(
ALFA)
-=0.31929/1599
(1000Genomes)
-=0.3339/197
(NorthernSweden)
CA=0.47418/863
(Korea1K)
CA=0.49423/8205
(TOMMO)
- HGVS:
5.
rs1491501444 has merged into rs57907284 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:55540021
(GRCh38)
4:56406188
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55540007:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:55540007:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:55540007:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:55540007:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:55540007:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:55540007:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:55540007:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:55540007:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.229/1147
(1000Genomes)
TT=0.35/210
(NorthernSweden)
- HGVS:
NC_000004.12:g.55540021_55540025del, NC_000004.12:g.55540022_55540025del, NC_000004.12:g.55540023_55540025del, NC_000004.12:g.55540024_55540025del, NC_000004.12:g.55540025del, NC_000004.12:g.55540025dup, NC_000004.12:g.55540024_55540025dup, NC_000004.12:g.55540017_55540025dup, NC_000004.11:g.56406188_56406192del, NC_000004.11:g.56406189_56406192del, NC_000004.11:g.56406190_56406192del, NC_000004.11:g.56406191_56406192del, NC_000004.11:g.56406192del, NC_000004.11:g.56406192dup, NC_000004.11:g.56406191_56406192dup, NC_000004.11:g.56406184_56406192dup
6.
rs1491489088 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:55522504
(GRCh38)
4:56388671
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55522503:TA:
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
7.
rs1491482219 has merged into rs3034980 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 4:55448619
(GRCh38)
4:56314786
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:55448601:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- CLOCK (Varview), TMEM165 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.2499/963
(ALSPAC)
-=0.2524/936
(TWINSUK)
- HGVS:
NC_000004.12:g.55448603TG[8], NC_000004.12:g.55448603TG[9], NC_000004.12:g.55448603TG[10], NC_000004.12:g.55448603TG[11], NC_000004.12:g.55448603TG[12], NC_000004.12:g.55448603TG[13], NC_000004.12:g.55448603TG[14], NC_000004.12:g.55448603TG[15], NC_000004.12:g.55448603TG[16], NC_000004.12:g.55448603TG[17], NC_000004.12:g.55448603TG[18], NC_000004.12:g.55448603TG[19], NC_000004.12:g.55448603TG[20], NC_000004.12:g.55448603TG[22], NC_000004.12:g.55448603TG[23], NC_000004.12:g.55448603TG[24], NC_000004.12:g.55448603TG[25], NC_000004.12:g.55448603TG[26], NC_000004.12:g.55448603TG[27], NC_000004.12:g.55448603TG[30], NC_000004.12:g.55448603TG[34], NC_000004.11:g.56314770TG[8], NC_000004.11:g.56314770TG[9], NC_000004.11:g.56314770TG[10], NC_000004.11:g.56314770TG[11], NC_000004.11:g.56314770TG[12], NC_000004.11:g.56314770TG[13], NC_000004.11:g.56314770TG[14], NC_000004.11:g.56314770TG[15], NC_000004.11:g.56314770TG[16], NC_000004.11:g.56314770TG[17], NC_000004.11:g.56314770TG[18], NC_000004.11:g.56314770TG[19], NC_000004.11:g.56314770TG[20], NC_000004.11:g.56314770TG[22], NC_000004.11:g.56314770TG[23], NC_000004.11:g.56314770TG[24], NC_000004.11:g.56314770TG[25], NC_000004.11:g.56314770TG[26], NC_000004.11:g.56314770TG[27], NC_000004.11:g.56314770TG[30], NC_000004.11:g.56314770TG[34]
8.
rs1491464466 has merged into rs766235766 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:55446109
(GRCh38)
4:56312276
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLOCK (Varview), TMEM165 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.55446109_55446121del, NC_000004.12:g.55446110_55446121del, NC_000004.12:g.55446111_55446121del, NC_000004.12:g.55446113_55446121del, NC_000004.12:g.55446114_55446121del, NC_000004.12:g.55446115_55446121del, NC_000004.12:g.55446116_55446121del, NC_000004.12:g.55446117_55446121del, NC_000004.12:g.55446118_55446121del, NC_000004.12:g.55446119_55446121del, NC_000004.12:g.55446120_55446121del, NC_000004.12:g.55446121del, NC_000004.12:g.55446121dup, NC_000004.12:g.55446120_55446121dup, NC_000004.12:g.55446119_55446121dup, NC_000004.12:g.55446118_55446121dup, NC_000004.12:g.55446117_55446121dup, NC_000004.12:g.55446115_55446121dup, NC_000004.11:g.56312276_56312288del, NC_000004.11:g.56312277_56312288del, NC_000004.11:g.56312278_56312288del, NC_000004.11:g.56312280_56312288del, NC_000004.11:g.56312281_56312288del, NC_000004.11:g.56312282_56312288del, NC_000004.11:g.56312283_56312288del, NC_000004.11:g.56312284_56312288del, NC_000004.11:g.56312285_56312288del, NC_000004.11:g.56312286_56312288del, NC_000004.11:g.56312287_56312288del, NC_000004.11:g.56312288del, NC_000004.11:g.56312288dup, NC_000004.11:g.56312287_56312288dup, NC_000004.11:g.56312286_56312288dup, NC_000004.11:g.56312285_56312288dup, NC_000004.11:g.56312284_56312288dup, NC_000004.11:g.56312282_56312288dup
9.
rs1491431615 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGTG,TGTGTGTG
[Show Flanks]
- Chromosome:
- 4:55448595
(GRCh38)
4:56314763
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55448595:G:GTGTG,NC_000004.12:55448595:G:GTGTGTGTG
- Gene:
- CLOCK (Varview), TMEM165 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGTGTG=0./0
(
ALFA)
GTGT=0.00003/1
(GnomAD)
- HGVS:
10.
rs1491417363 has merged into rs766235766 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:55446109
(GRCh38)
4:56312276
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:55446101:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLOCK (Varview), TMEM165 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.55446109_55446121del, NC_000004.12:g.55446110_55446121del, NC_000004.12:g.55446111_55446121del, NC_000004.12:g.55446113_55446121del, NC_000004.12:g.55446114_55446121del, NC_000004.12:g.55446115_55446121del, NC_000004.12:g.55446116_55446121del, NC_000004.12:g.55446117_55446121del, NC_000004.12:g.55446118_55446121del, NC_000004.12:g.55446119_55446121del, NC_000004.12:g.55446120_55446121del, NC_000004.12:g.55446121del, NC_000004.12:g.55446121dup, NC_000004.12:g.55446120_55446121dup, NC_000004.12:g.55446119_55446121dup, NC_000004.12:g.55446118_55446121dup, NC_000004.12:g.55446117_55446121dup, NC_000004.12:g.55446115_55446121dup, NC_000004.11:g.56312276_56312288del, NC_000004.11:g.56312277_56312288del, NC_000004.11:g.56312278_56312288del, NC_000004.11:g.56312280_56312288del, NC_000004.11:g.56312281_56312288del, NC_000004.11:g.56312282_56312288del, NC_000004.11:g.56312283_56312288del, NC_000004.11:g.56312284_56312288del, NC_000004.11:g.56312285_56312288del, NC_000004.11:g.56312286_56312288del, NC_000004.11:g.56312287_56312288del, NC_000004.11:g.56312288del, NC_000004.11:g.56312288dup, NC_000004.11:g.56312287_56312288dup, NC_000004.11:g.56312286_56312288dup, NC_000004.11:g.56312285_56312288dup, NC_000004.11:g.56312284_56312288dup, NC_000004.11:g.56312282_56312288dup
12.
rs1491357324 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 4:55532542
(GRCh38)
4:56398709
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55532541:TA:
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
14.
rs1491352678 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 4:55534774
(GRCh38)
4:56400941
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55534773:CT:
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.278076/1243
(
ALFA)
-=0.214417/3594
(TOMMO)
-=0.258734/474
(Korea1K)
-=0.279018/1250
(Estonian)
-=0.35/14
(GENOME_DK)
-=0.398333/239
(NorthernSweden)
-=0.400999/2568
(1000Genomes)
-=0.425029/59363
(GnomAD)
- HGVS:
15.
rs1491297382 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 4:55524245
(GRCh38)
4:56390413
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55524245::C
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000447/2
(
ALFA)
C=0.000072/10
(GnomAD)
C=0.000312/2
(1000Genomes)
C=0.000446/2
(Estonian)
C=0.001239/21
(TOMMO)
- HGVS:
17.
rs1491243960 has merged into rs1484693337 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAA
[Show Flanks]
- Chromosome:
- 4:55524251
(GRCh38)
4:56390418
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55524244:AAAAAAAA:AAAAAA,NC_000004.12:55524244:AAAAAAAA:AAAAAAAAA
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1491188620 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:55495890
(GRCh38)
4:56362058
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55495890:AAAAAAA:AAAAAAAA
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000017/2
(GnomAD)
- HGVS:
19.
rs1491146758 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 4:55540007
(GRCh38)
4:56406174
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55540006:AT:
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00007/6
(GnomAD)
- HGVS:
20.
rs1491136444 has merged into rs11460620 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 4:55526961
(GRCh38)
4:56393128
(GRCh37)
- Canonical SPDI:
- NC_000004.12:55526946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:55526946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:55526946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:55526946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:55526946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:55526946:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- CLOCK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.4375/2191
(1000Genomes)
- HGVS:
NC_000004.12:g.55526961_55526962del, NC_000004.12:g.55526962del, NC_000004.12:g.55526962dup, NC_000004.12:g.55526961_55526962dup, NC_000004.12:g.55526960_55526962dup, NC_000004.12:g.55526959_55526962dup, NC_000004.11:g.56393128_56393129del, NC_000004.11:g.56393129del, NC_000004.11:g.56393129dup, NC_000004.11:g.56393128_56393129dup, NC_000004.11:g.56393127_56393129dup, NC_000004.11:g.56393126_56393129dup