Links from Gene
Items: 1 to 20 of 1000
1.
rs1491565871 has merged into rs754273371 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 20:34787880
(GRCh38)
20:33375683
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34787867:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:34787867:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:34787867:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:34787867:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:34787867:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:34787867:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.02333/14
(NorthernSweden)
T=0.15/6
(GENOME_DK)
- HGVS:
NC_000020.11:g.34787880_34787883del, NC_000020.11:g.34787881_34787883del, NC_000020.11:g.34787882_34787883del, NC_000020.11:g.34787883del, NC_000020.11:g.34787883dup, NC_000020.11:g.34787882_34787883dup, NC_000020.10:g.33375683_33375686del, NC_000020.10:g.33375684_33375686del, NC_000020.10:g.33375685_33375686del, NC_000020.10:g.33375686del, NC_000020.10:g.33375686dup, NC_000020.10:g.33375685_33375686dup
2.
rs1491543182 has merged into rs11471838 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:34764022
(GRCh38)
20:33351825
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:34764009:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.34764022_34764028del, NC_000020.11:g.34764023_34764028del, NC_000020.11:g.34764024_34764028del, NC_000020.11:g.34764025_34764028del, NC_000020.11:g.34764026_34764028del, NC_000020.11:g.34764027_34764028del, NC_000020.11:g.34764028del, NC_000020.11:g.34764028dup, NC_000020.11:g.34764027_34764028dup, NC_000020.11:g.34764026_34764028dup, NC_000020.11:g.34764025_34764028dup, NC_000020.11:g.34764024_34764028dup, NC_000020.11:g.34764022_34764028dup, NC_000020.11:g.34764017_34764028dup, NC_000020.10:g.33351825_33351831del, NC_000020.10:g.33351826_33351831del, NC_000020.10:g.33351827_33351831del, NC_000020.10:g.33351828_33351831del, NC_000020.10:g.33351829_33351831del, NC_000020.10:g.33351830_33351831del, NC_000020.10:g.33351831del, NC_000020.10:g.33351831dup, NC_000020.10:g.33351830_33351831dup, NC_000020.10:g.33351829_33351831dup, NC_000020.10:g.33351828_33351831dup, NC_000020.10:g.33351827_33351831dup, NC_000020.10:g.33351825_33351831dup, NC_000020.10:g.33351820_33351831dup
3.
rs1491542232 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:34778958
(GRCh38)
20:33366761
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34778957:CA:
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00447/53
(
ALFA)
-=0.00033/10
(GnomAD)
-=0.00082/12
(TOMMO)
- HGVS:
5.
rs1491357424 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTAT,GTATATGTAT,GTATGTAT
[Show Flanks]
- Chromosome:
- 20:34811199
(GRCh38)
20:33399003
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34811199:TGTAT:TGTATGTAT,NC_000020.11:34811199:TGTAT:TGTATGTATATGTAT,NC_000020.11:34811199:TGTAT:TGTATGTATGTAT
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTATGTAT=0.00722/117
(
ALFA)
TGTA=0.03404/218
(1000Genomes)
TGTA=0.03462/61
(Korea1K)
- HGVS:
6.
rs1491337497 has merged into rs60649247 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:34733862
(GRCh38)
20:33321666
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34733850:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAA=0.000004/1
(TOPMED)
-=0.4/16
(GENOME_DK)
- HGVS:
NC_000020.11:g.34733862_34733878del, NC_000020.11:g.34733863_34733878del, NC_000020.11:g.34733864_34733878del, NC_000020.11:g.34733865_34733878del, NC_000020.11:g.34733866_34733878del, NC_000020.11:g.34733867_34733878del, NC_000020.11:g.34733868_34733878del, NC_000020.11:g.34733869_34733878del, NC_000020.11:g.34733870_34733878del, NC_000020.11:g.34733872_34733878del, NC_000020.11:g.34733873_34733878del, NC_000020.11:g.34733874_34733878del, NC_000020.11:g.34733875_34733878del, NC_000020.11:g.34733876_34733878del, NC_000020.11:g.34733877_34733878del, NC_000020.11:g.34733878del, NC_000020.11:g.34733878dup, NC_000020.11:g.34733877_34733878dup, NC_000020.11:g.34733876_34733878dup, NC_000020.11:g.34733875_34733878dup, NC_000020.10:g.33321666_33321682del, NC_000020.10:g.33321667_33321682del, NC_000020.10:g.33321668_33321682del, NC_000020.10:g.33321669_33321682del, NC_000020.10:g.33321670_33321682del, NC_000020.10:g.33321671_33321682del, NC_000020.10:g.33321672_33321682del, NC_000020.10:g.33321673_33321682del, NC_000020.10:g.33321674_33321682del, NC_000020.10:g.33321676_33321682del, NC_000020.10:g.33321677_33321682del, NC_000020.10:g.33321678_33321682del, NC_000020.10:g.33321679_33321682del, NC_000020.10:g.33321680_33321682del, NC_000020.10:g.33321681_33321682del, NC_000020.10:g.33321682del, NC_000020.10:g.33321682dup, NC_000020.10:g.33321681_33321682dup, NC_000020.10:g.33321680_33321682dup, NC_000020.10:g.33321679_33321682dup
7.
rs1491317538 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 20:34819147
(GRCh38)
20:33406950
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34819145:CAC:C
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1491294496 has merged into rs5841181 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:34775697
(GRCh38)
20:33363500
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34775693:AAAAAAAAAA:AAA,NC_000020.11:34775693:AAAAAAAAAA:AAAAAA,NC_000020.11:34775693:AAAAAAAAAA:AAAAAAA,NC_000020.11:34775693:AAAAAAAAAA:AAAAAAAA,NC_000020.11:34775693:AAAAAAAAAA:AAAAAAAAA,NC_000020.11:34775693:AAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:34775693:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:34775693:AAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.34775697_34775703del, NC_000020.11:g.34775700_34775703del, NC_000020.11:g.34775701_34775703del, NC_000020.11:g.34775702_34775703del, NC_000020.11:g.34775703del, NC_000020.11:g.34775703dup, NC_000020.11:g.34775701_34775703dup, NC_000020.11:g.34775700_34775703dup, NC_000020.10:g.33363500_33363506del, NC_000020.10:g.33363503_33363506del, NC_000020.10:g.33363504_33363506del, NC_000020.10:g.33363505_33363506del, NC_000020.10:g.33363506del, NC_000020.10:g.33363506dup, NC_000020.10:g.33363504_33363506dup, NC_000020.10:g.33363503_33363506dup
9.
rs1491286285 has merged into rs1285154596 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT,GTGTGT
[Show Flanks]
- Chromosome:
- 20:34811201
(GRCh38)
20:33399004
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34811198:GTGT:GT,NC_000020.11:34811198:GTGT:GTGTGT,NC_000020.11:34811198:GTGT:GTGTGTGT
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGT=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
10.
rs1491243071 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 20:34792777
(GRCh38)
20:33380581
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34792777:T:TCT
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
TC=0.00016/1
(GnomAD)
TC=0.00064/8
(TOMMO)
- HGVS:
11.
rs1491237400 has merged into rs570763953 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:34775679
(GRCh38)
20:33363482
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34775672:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.125/5
(GENOME_DK)
- HGVS:
NC_000020.11:g.34775679_34775692del, NC_000020.11:g.34775680_34775692del, NC_000020.11:g.34775681_34775692del, NC_000020.11:g.34775683_34775692del, NC_000020.11:g.34775684_34775692del, NC_000020.11:g.34775686_34775692del, NC_000020.11:g.34775687_34775692del, NC_000020.11:g.34775688_34775692del, NC_000020.11:g.34775689_34775692del, NC_000020.11:g.34775690_34775692del, NC_000020.11:g.34775691_34775692del, NC_000020.11:g.34775692del, NC_000020.11:g.34775692dup, NC_000020.11:g.34775690_34775692dup, NC_000020.11:g.34775689_34775692dup, NC_000020.11:g.34775686_34775692dup, NC_000020.11:g.34775685_34775692dup, NC_000020.11:g.34775684_34775692dup, NC_000020.11:g.34775683_34775692dup, NC_000020.11:g.34775682_34775692dup, NC_000020.11:g.34775681_34775692dup, NC_000020.11:g.34775680_34775692dup, NC_000020.11:g.34775679_34775692dup, NC_000020.11:g.34775678_34775692dup, NC_000020.11:g.34775677_34775692dup, NC_000020.11:g.34775676_34775692dup, NC_000020.11:g.34775674_34775692dup, NC_000020.11:g.34775673_34775692dup, NC_000020.11:g.34775692_34775693insAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.34775692_34775693insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.34775692_34775693insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.33363482_33363495del, NC_000020.10:g.33363483_33363495del, NC_000020.10:g.33363484_33363495del, NC_000020.10:g.33363486_33363495del, NC_000020.10:g.33363487_33363495del, NC_000020.10:g.33363489_33363495del, NC_000020.10:g.33363490_33363495del, NC_000020.10:g.33363491_33363495del, NC_000020.10:g.33363492_33363495del, NC_000020.10:g.33363493_33363495del, NC_000020.10:g.33363494_33363495del, NC_000020.10:g.33363495del, NC_000020.10:g.33363495dup, NC_000020.10:g.33363493_33363495dup, NC_000020.10:g.33363492_33363495dup, NC_000020.10:g.33363489_33363495dup, NC_000020.10:g.33363488_33363495dup, NC_000020.10:g.33363487_33363495dup, NC_000020.10:g.33363486_33363495dup, NC_000020.10:g.33363485_33363495dup, NC_000020.10:g.33363484_33363495dup, NC_000020.10:g.33363483_33363495dup, NC_000020.10:g.33363482_33363495dup, NC_000020.10:g.33363481_33363495dup, NC_000020.10:g.33363480_33363495dup, NC_000020.10:g.33363479_33363495dup, NC_000020.10:g.33363477_33363495dup, NC_000020.10:g.33363476_33363495dup, NC_000020.10:g.33363495_33363496insAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.33363495_33363496insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.33363495_33363496insAAAAAAAAAAAAAAAAAAAAAAAAAA
12.
rs1491235332 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATATATA
[Show Flanks]
- Chromosome:
- 20:34811202
(GRCh38)
20:33399006
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34811202:ATATATA:ATATATACATATATA
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATACATATATA=0./0
(
ALFA)
ATATATAC=0.00007/1
(GnomAD)
- HGVS:
14.
rs1491226428 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 20:34746929
(GRCh38)
20:33334733
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34746928:CT:
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- splice_acceptor_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00006/2
(ExAC)
- HGVS:
15.
rs1491217958 has merged into rs33961774 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:34785889
(GRCh38)
20:33373692
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34785876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:34785876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:34785876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:34785876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:34785876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:34785876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:34785876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:34785876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:34785876:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.425/17
(GENOME_DK)
-=0.4892/2450
(1000Genomes)
- HGVS:
NC_000020.11:g.34785889_34785893del, NC_000020.11:g.34785890_34785893del, NC_000020.11:g.34785891_34785893del, NC_000020.11:g.34785892_34785893del, NC_000020.11:g.34785893del, NC_000020.11:g.34785893dup, NC_000020.11:g.34785892_34785893dup, NC_000020.11:g.34785891_34785893dup, NC_000020.11:g.34785879_34785893dup, NC_000020.10:g.33373692_33373696del, NC_000020.10:g.33373693_33373696del, NC_000020.10:g.33373694_33373696del, NC_000020.10:g.33373695_33373696del, NC_000020.10:g.33373696del, NC_000020.10:g.33373696dup, NC_000020.10:g.33373695_33373696dup, NC_000020.10:g.33373694_33373696dup, NC_000020.10:g.33373682_33373696dup
16.
rs1491203785 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:34775672
(GRCh38)
20:33363475
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34775671:CA:
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0172/204
(
ALFA)
-=0.00412/131
(GnomAD)
-=0.00837/135
(TOMMO)
- HGVS:
17.
rs1491169212 has merged into rs57631874 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:34778965
(GRCh38)
20:33366768
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:34778958:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAAAAAA=0.0046/17
(TWINSUK)
AAAAAAAAAAAAAAAAAAAA=0.0057/22
(ALSPAC)
-=0.075/3
(GENOME_DK)
- HGVS:
NC_000020.11:g.34778965_34778984del, NC_000020.11:g.34778970_34778984del, NC_000020.11:g.34778971_34778984del, NC_000020.11:g.34778972_34778984del, NC_000020.11:g.34778973_34778984del, NC_000020.11:g.34778974_34778984del, NC_000020.11:g.34778975_34778984del, NC_000020.11:g.34778976_34778984del, NC_000020.11:g.34778977_34778984del, NC_000020.11:g.34778978_34778984del, NC_000020.11:g.34778979_34778984del, NC_000020.11:g.34778980_34778984del, NC_000020.11:g.34778981_34778984del, NC_000020.11:g.34778982_34778984del, NC_000020.11:g.34778983_34778984del, NC_000020.11:g.34778984del, NC_000020.11:g.34778984dup, NC_000020.11:g.34778983_34778984dup, NC_000020.11:g.34778982_34778984dup, NC_000020.11:g.34778981_34778984dup, NC_000020.11:g.34778980_34778984dup, NC_000020.11:g.34778979_34778984dup, NC_000020.11:g.34778978_34778984dup, NC_000020.11:g.34778977_34778984dup, NC_000020.11:g.34778966_34778984dup, NC_000020.11:g.34778984_34778985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.33366768_33366787del, NC_000020.10:g.33366773_33366787del, NC_000020.10:g.33366774_33366787del, NC_000020.10:g.33366775_33366787del, NC_000020.10:g.33366776_33366787del, NC_000020.10:g.33366777_33366787del, NC_000020.10:g.33366778_33366787del, NC_000020.10:g.33366779_33366787del, NC_000020.10:g.33366780_33366787del, NC_000020.10:g.33366781_33366787del, NC_000020.10:g.33366782_33366787del, NC_000020.10:g.33366783_33366787del, NC_000020.10:g.33366784_33366787del, NC_000020.10:g.33366785_33366787del, NC_000020.10:g.33366786_33366787del, NC_000020.10:g.33366787del, NC_000020.10:g.33366787dup, NC_000020.10:g.33366786_33366787dup, NC_000020.10:g.33366785_33366787dup, NC_000020.10:g.33366784_33366787dup, NC_000020.10:g.33366783_33366787dup, NC_000020.10:g.33366782_33366787dup, NC_000020.10:g.33366781_33366787dup, NC_000020.10:g.33366780_33366787dup, NC_000020.10:g.33366769_33366787dup, NC_000020.10:g.33366787_33366788insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
18.
rs1491131639 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:34715410
(GRCh38)
20:33303214
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34715408:ACA:A
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000008/1
(ExAC)
- HGVS:
19.
rs1491125101 has merged into rs71340421 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 20:34787133
(GRCh38)
20:33374936
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34787122:AAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:34787122:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:34787122:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:34787122:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:34787122:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.1011/167
(1000Genomes)
-=0.3674/219
(NorthernSweden)
-=0.3713/1431
(ALSPAC)
-=0.375/15
(GENOME_DK)
-=0.3889/1442
(TWINSUK)
-=0.4198/419
(GoNL)
- HGVS:
20.
rs1491085336 has merged into rs71340421 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 20:34787133
(GRCh38)
20:33374936
(GRCh37)
- Canonical SPDI:
- NC_000020.11:34787122:AAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:34787122:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:34787122:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:34787122:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:34787122:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- NCOA6 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.1011/167
(1000Genomes)
-=0.3674/219
(NorthernSweden)
-=0.3713/1431
(ALSPAC)
-=0.375/15
(GENOME_DK)
-=0.3889/1442
(TWINSUK)
-=0.4198/419
(GoNL)
- HGVS: