Links from Gene
Items: 1 to 20 of 1000
1.
rs1491578017 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 6:55262452
(GRCh38)
6:55127250
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55262445:ATATATAT:ATATAT,NC_000006.12:55262445:ATATATAT:ATATATATAT
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
3.
rs1491571789 has merged into rs76538680 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 6:55206550
(GRCh38)
6:55071348
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55206542:TTTTTTTTT:TTTTTTT,NC_000006.12:55206542:TTTTTTTTT:TTTTTTTT,NC_000006.12:55206542:TTTTTTTTT:TTTTTTTTTT
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.111222/111
(GoNL)
-=0.140507/521
(TWINSUK)
-=0.141152/544
(ALSPAC)
-=0.146613/38807
(TOPMED)
-=0.157812/707
(Estonian)
-=0.163895/808
(1000Genomes)
-=0.18/108
(NorthernSweden)
-=0.2/8
(GENOME_DK)
-=0.290679/4871
(TOMMO)
- HGVS:
4.
rs1491544188 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 6:55165744
(GRCh38)
6:55030542
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55165743:AA:
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00493/78
(
ALFA)
-=0.00103/17
(TOMMO)
-=0.00175/3
(Korea1K)
-=0.00783/659
(GnomAD)
- HGVS:
5.
rs1491509199 has merged into rs200158940 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 6:55267420
(GRCh38)
6:55132218
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55267404:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:55267404:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:55267404:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:55267404:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:55267404:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:55267404:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55267404:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.45/18
(GENOME_DK)
- HGVS:
NC_000006.12:g.55267420_55267421del, NC_000006.12:g.55267421del, NC_000006.12:g.55267421dup, NC_000006.12:g.55267420_55267421dup, NC_000006.12:g.55267419_55267421dup, NC_000006.12:g.55267418_55267421dup, NC_000006.12:g.55267417_55267421dup, NC_000006.11:g.55132218_55132219del, NC_000006.11:g.55132219del, NC_000006.11:g.55132219dup, NC_000006.11:g.55132218_55132219dup, NC_000006.11:g.55132217_55132219dup, NC_000006.11:g.55132216_55132219dup, NC_000006.11:g.55132215_55132219dup, NG_012447.2:g.165961_165962del, NG_012447.2:g.165962del, NG_012447.2:g.165962dup, NG_012447.2:g.165961_165962dup, NG_012447.2:g.165960_165962dup, NG_012447.2:g.165959_165962dup, NG_012447.2:g.165958_165962dup
6.
rs1491507891 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 6:55242387
(GRCh38)
6:55107185
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55242386:GA:
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000025/3
(GnomAD)
- HGVS:
7.
rs1491480411 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:55208328
(GRCh38)
6:55073127
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55208328::T
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/1
(TOMMO)
T=0.000064/8
(GnomAD)
- HGVS:
8.
rs1491470863 has merged into rs1158724252 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:55269096
(GRCh38)
6:55133894
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:55269087:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.55269096_55269106del, NC_000006.12:g.55269103_55269106del, NC_000006.12:g.55269104_55269106del, NC_000006.12:g.55269105_55269106del, NC_000006.12:g.55269106del, NC_000006.12:g.55269106dup, NC_000006.12:g.55269105_55269106dup, NC_000006.12:g.55269104_55269106dup, NC_000006.12:g.55269100_55269106dup, NC_000006.12:g.55269099_55269106dup, NC_000006.12:g.55269098_55269106dup, NC_000006.12:g.55269097_55269106dup, NC_000006.12:g.55269094_55269106dup, NC_000006.12:g.55269090_55269106dup, NC_000006.12:g.55269089_55269106dup, NC_000006.11:g.55133894_55133904del, NC_000006.11:g.55133901_55133904del, NC_000006.11:g.55133902_55133904del, NC_000006.11:g.55133903_55133904del, NC_000006.11:g.55133904del, NC_000006.11:g.55133904dup, NC_000006.11:g.55133903_55133904dup, NC_000006.11:g.55133902_55133904dup, NC_000006.11:g.55133898_55133904dup, NC_000006.11:g.55133897_55133904dup, NC_000006.11:g.55133896_55133904dup, NC_000006.11:g.55133895_55133904dup, NC_000006.11:g.55133892_55133904dup, NC_000006.11:g.55133888_55133904dup, NC_000006.11:g.55133887_55133904dup, NG_012447.2:g.167637_167647del, NG_012447.2:g.167644_167647del, NG_012447.2:g.167645_167647del, NG_012447.2:g.167646_167647del, NG_012447.2:g.167647del, NG_012447.2:g.167647dup, NG_012447.2:g.167646_167647dup, NG_012447.2:g.167645_167647dup, NG_012447.2:g.167641_167647dup, NG_012447.2:g.167640_167647dup, NG_012447.2:g.167639_167647dup, NG_012447.2:g.167638_167647dup, NG_012447.2:g.167635_167647dup, NG_012447.2:g.167631_167647dup, NG_012447.2:g.167630_167647dup
9.
rs1491460084 has merged into rs35805278 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAG>-,AG,AGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 6:55165234
(GRCh38)
6:55030032
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55165222:GAGAGAGAGAGAGAGAG:GAGAGAGAGAG,NC_000006.12:55165222:GAGAGAGAGAGAGAGAG:GAGAGAGAGAGAG,NC_000006.12:55165222:GAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAG,NC_000006.12:55165222:GAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAG,NC_000006.12:55165222:GAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAG,NC_000006.12:55165222:GAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAG
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGAG=0./0
(
ALFA)
-=0.154/491
(1000Genomes)
- HGVS:
NC_000006.12:g.55165224AG[5], NC_000006.12:g.55165224AG[6], NC_000006.12:g.55165224AG[7], NC_000006.12:g.55165224AG[9], NC_000006.12:g.55165224AG[10], NC_000006.12:g.55165224AG[11], NC_000006.11:g.55030022AG[5], NC_000006.11:g.55030022AG[6], NC_000006.11:g.55030022AG[7], NC_000006.11:g.55030022AG[9], NC_000006.11:g.55030022AG[10], NC_000006.11:g.55030022AG[11], NG_012447.2:g.63765AG[5], NG_012447.2:g.63765AG[6], NG_012447.2:g.63765AG[7], NG_012447.2:g.63765AG[9], NG_012447.2:g.63765AG[10], NG_012447.2:g.63765AG[11]
10.
rs1491444274 has merged into rs35184458 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:55132762
(GRCh38)
6:54997560
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55132751:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:55132751:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:55132751:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:55132751:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:55132751:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:55132751:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:55132751:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:55132751:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:55132751:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.3614/1810
(1000Genomes)
- HGVS:
NC_000006.12:g.55132762_55132766del, NC_000006.12:g.55132763_55132766del, NC_000006.12:g.55132764_55132766del, NC_000006.12:g.55132765_55132766del, NC_000006.12:g.55132766del, NC_000006.12:g.55132766dup, NC_000006.12:g.55132765_55132766dup, NC_000006.12:g.55132764_55132766dup, NC_000006.12:g.55132761_55132766dup, NC_000006.11:g.54997560_54997564del, NC_000006.11:g.54997561_54997564del, NC_000006.11:g.54997562_54997564del, NC_000006.11:g.54997563_54997564del, NC_000006.11:g.54997564del, NC_000006.11:g.54997564dup, NC_000006.11:g.54997563_54997564dup, NC_000006.11:g.54997562_54997564dup, NC_000006.11:g.54997559_54997564dup, NG_012447.2:g.31303_31307del, NG_012447.2:g.31304_31307del, NG_012447.2:g.31305_31307del, NG_012447.2:g.31306_31307del, NG_012447.2:g.31307del, NG_012447.2:g.31307dup, NG_012447.2:g.31306_31307dup, NG_012447.2:g.31305_31307dup, NG_012447.2:g.31302_31307dup
12.
rs1491408480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 6:55267405
(GRCh38)
6:55132204
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55267405:T:TAT
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAT=0./0
(
ALFA)
TA=0.00014/7
(GnomAD)
- HGVS:
13.
rs1491390724 has merged into rs199646047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:55133384
(GRCh38)
6:54998182
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55133374:ACACACACACA:ACACACACA
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACA=0.00017/2
(
ALFA)
- HGVS:
14.
rs1491379446 has merged into rs5876430 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:55187694
(GRCh38)
6:55052492
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:55187682:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.55187694_55187704del, NC_000006.12:g.55187695_55187704del, NC_000006.12:g.55187697_55187704del, NC_000006.12:g.55187698_55187704del, NC_000006.12:g.55187699_55187704del, NC_000006.12:g.55187700_55187704del, NC_000006.12:g.55187701_55187704del, NC_000006.12:g.55187702_55187704del, NC_000006.12:g.55187703_55187704del, NC_000006.12:g.55187704del, NC_000006.12:g.55187704dup, NC_000006.12:g.55187703_55187704dup, NC_000006.12:g.55187702_55187704dup, NC_000006.12:g.55187701_55187704dup, NC_000006.12:g.55187700_55187704dup, NC_000006.12:g.55187699_55187704dup, NC_000006.12:g.55187697_55187704dup, NC_000006.12:g.55187693_55187704dup, NC_000006.12:g.55187692_55187704dup, NC_000006.12:g.55187691_55187704dup, NC_000006.12:g.55187690_55187704dup, NC_000006.12:g.55187688_55187704dup, NC_000006.12:g.55187704_55187705insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.55052492_55052502del, NC_000006.11:g.55052493_55052502del, NC_000006.11:g.55052495_55052502del, NC_000006.11:g.55052496_55052502del, NC_000006.11:g.55052497_55052502del, NC_000006.11:g.55052498_55052502del, NC_000006.11:g.55052499_55052502del, NC_000006.11:g.55052500_55052502del, NC_000006.11:g.55052501_55052502del, NC_000006.11:g.55052502del, NC_000006.11:g.55052502dup, NC_000006.11:g.55052501_55052502dup, NC_000006.11:g.55052500_55052502dup, NC_000006.11:g.55052499_55052502dup, NC_000006.11:g.55052498_55052502dup, NC_000006.11:g.55052497_55052502dup, NC_000006.11:g.55052495_55052502dup, NC_000006.11:g.55052491_55052502dup, NC_000006.11:g.55052490_55052502dup, NC_000006.11:g.55052489_55052502dup, NC_000006.11:g.55052488_55052502dup, NC_000006.11:g.55052486_55052502dup, NC_000006.11:g.55052502_55052503insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012447.2:g.86235_86245del, NG_012447.2:g.86236_86245del, NG_012447.2:g.86238_86245del, NG_012447.2:g.86239_86245del, NG_012447.2:g.86240_86245del, NG_012447.2:g.86241_86245del, NG_012447.2:g.86242_86245del, NG_012447.2:g.86243_86245del, NG_012447.2:g.86244_86245del, NG_012447.2:g.86245del, NG_012447.2:g.86245dup, NG_012447.2:g.86244_86245dup, NG_012447.2:g.86243_86245dup, NG_012447.2:g.86242_86245dup, NG_012447.2:g.86241_86245dup, NG_012447.2:g.86240_86245dup, NG_012447.2:g.86238_86245dup, NG_012447.2:g.86234_86245dup, NG_012447.2:g.86233_86245dup, NG_012447.2:g.86232_86245dup, NG_012447.2:g.86231_86245dup, NG_012447.2:g.86229_86245dup, NG_012447.2:g.86245_86246insTTTTTTTTTTTTTTTTTTTTTTTTTTT
16.
rs1491373963 has merged into rs56655240 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
[Show Flanks]
- Chromosome:
- 6:55165754
(GRCh38)
6:55030552
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:55165744:ATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATA=0./0
(
ALFA)
ATATATATATATATATATATATATATATATAT=0./0
(GENOME_DK)
- HGVS:
NC_000006.12:g.55165746TA[4], NC_000006.12:g.55165746TA[5], NC_000006.12:g.55165746TA[6], NC_000006.12:g.55165746TA[7], NC_000006.12:g.55165746TA[8], NC_000006.12:g.55165746TA[9], NC_000006.12:g.55165746TA[10], NC_000006.12:g.55165746TA[11], NC_000006.12:g.55165746TA[12], NC_000006.12:g.55165746TA[13], NC_000006.12:g.55165746TA[14], NC_000006.12:g.55165746TA[15], NC_000006.12:g.55165746TA[16], NC_000006.12:g.55165746TA[17], NC_000006.12:g.55165746TA[18], NC_000006.12:g.55165746TA[19], NC_000006.12:g.55165746TA[20], NC_000006.12:g.55165746TA[21], NC_000006.12:g.55165746TA[23], NC_000006.12:g.55165746TA[24], NC_000006.12:g.55165746TA[25], NC_000006.12:g.55165746TA[26], NC_000006.12:g.55165746TA[27], NC_000006.12:g.55165746TA[28], NC_000006.12:g.55165746TA[29], NC_000006.12:g.55165746TA[30], NC_000006.12:g.55165746TA[31], NC_000006.12:g.55165746TA[32], NC_000006.12:g.55165746TA[33], NC_000006.12:g.55165746TA[38], NC_000006.11:g.55030544TA[4], NC_000006.11:g.55030544TA[5], NC_000006.11:g.55030544TA[6], NC_000006.11:g.55030544TA[7], NC_000006.11:g.55030544TA[8], NC_000006.11:g.55030544TA[9], NC_000006.11:g.55030544TA[10], NC_000006.11:g.55030544TA[11], NC_000006.11:g.55030544TA[12], NC_000006.11:g.55030544TA[13], NC_000006.11:g.55030544TA[14], NC_000006.11:g.55030544TA[15], NC_000006.11:g.55030544TA[16], NC_000006.11:g.55030544TA[17], NC_000006.11:g.55030544TA[18], NC_000006.11:g.55030544TA[19], NC_000006.11:g.55030544TA[20], NC_000006.11:g.55030544TA[21], NC_000006.11:g.55030544TA[23], NC_000006.11:g.55030544TA[24], NC_000006.11:g.55030544TA[25], NC_000006.11:g.55030544TA[26], NC_000006.11:g.55030544TA[27], NC_000006.11:g.55030544TA[28], NC_000006.11:g.55030544TA[29], NC_000006.11:g.55030544TA[30], NC_000006.11:g.55030544TA[31], NC_000006.11:g.55030544TA[32], NC_000006.11:g.55030544TA[33], NC_000006.11:g.55030544TA[38], NG_012447.2:g.64287TA[4], NG_012447.2:g.64287TA[5], NG_012447.2:g.64287TA[6], NG_012447.2:g.64287TA[7], NG_012447.2:g.64287TA[8], NG_012447.2:g.64287TA[9], NG_012447.2:g.64287TA[10], NG_012447.2:g.64287TA[11], NG_012447.2:g.64287TA[12], NG_012447.2:g.64287TA[13], NG_012447.2:g.64287TA[14], NG_012447.2:g.64287TA[15], NG_012447.2:g.64287TA[16], NG_012447.2:g.64287TA[17], NG_012447.2:g.64287TA[18], NG_012447.2:g.64287TA[19], NG_012447.2:g.64287TA[20], NG_012447.2:g.64287TA[21], NG_012447.2:g.64287TA[23], NG_012447.2:g.64287TA[24], NG_012447.2:g.64287TA[25], NG_012447.2:g.64287TA[26], NG_012447.2:g.64287TA[27], NG_012447.2:g.64287TA[28], NG_012447.2:g.64287TA[29], NG_012447.2:g.64287TA[30], NG_012447.2:g.64287TA[31], NG_012447.2:g.64287TA[32], NG_012447.2:g.64287TA[33], NG_012447.2:g.64287TA[38]
17.
rs1491372669 has merged into rs138996618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 6:55256705
(GRCh38)
6:55121503
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55256696:AAAAAAAAAA:AAAAAAAA,NC_000006.12:55256696:AAAAAAAAAA:AAAAAAAAA,NC_000006.12:55256696:AAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:55256696:AAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:55256696:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:55256696:AAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0.0001/1
(
ALFA)
A=0.03585/29
(1000Genomes)
-=0.23409/868
(TWINSUK)
-=0.2439/940
(ALSPAC)
-=0.25/10
(GENOME_DK)
- HGVS:
NC_000006.12:g.55256705_55256706del, NC_000006.12:g.55256706del, NC_000006.12:g.55256706dup, NC_000006.12:g.55256705_55256706dup, NC_000006.12:g.55256704_55256706dup, NC_000006.12:g.55256702_55256706dup, NC_000006.11:g.55121503_55121504del, NC_000006.11:g.55121504del, NC_000006.11:g.55121504dup, NC_000006.11:g.55121503_55121504dup, NC_000006.11:g.55121502_55121504dup, NC_000006.11:g.55121500_55121504dup, NG_012447.2:g.155246_155247del, NG_012447.2:g.155247del, NG_012447.2:g.155247dup, NG_012447.2:g.155246_155247dup, NG_012447.2:g.155245_155247dup, NG_012447.2:g.155243_155247dup
19.
rs1491350352 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:55240358
(GRCh38)
6:55105157
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55240358::G
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00002/1
(GnomAD)
- HGVS:
20.
rs1491331955 has merged into rs200967732 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGCGCGC>-,GCGC,GCGCGC,GCGCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC
[Show Flanks]
- Chromosome:
- 6:55192407
(GRCh38)
6:55057205
(GRCh37)
- Canonical SPDI:
- NC_000006.12:55192401:CGCGCGCGCGCGC:CGCGC,NC_000006.12:55192401:CGCGCGCGCGCGC:CGCGCGCGC,NC_000006.12:55192401:CGCGCGCGCGCGC:CGCGCGCGCGC,NC_000006.12:55192401:CGCGCGCGCGCGC:CGCGCGCGCGCGCGC,NC_000006.12:55192401:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGC,NC_000006.12:55192401:CGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC
- Gene:
- HCRTR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGCGCGCGCGC=0./0
(
ALFA)
CG=0.00048/8
(TOMMO)
CG=0.01667/10
(NorthernSweden)
- HGVS:
NC_000006.12:g.55192403GC[2], NC_000006.12:g.55192403GC[4], NC_000006.12:g.55192403GC[5], NC_000006.12:g.55192403GC[7], NC_000006.12:g.55192403GC[8], NC_000006.12:g.55192403GC[9], NC_000006.11:g.55057201GC[2], NC_000006.11:g.55057201GC[4], NC_000006.11:g.55057201GC[5], NC_000006.11:g.55057201GC[7], NC_000006.11:g.55057201GC[8], NC_000006.11:g.55057201GC[9], NG_012447.2:g.90944GC[2], NG_012447.2:g.90944GC[4], NG_012447.2:g.90944GC[5], NG_012447.2:g.90944GC[7], NG_012447.2:g.90944GC[8], NG_012447.2:g.90944GC[9]