Links from Gene
Items: 1 to 20 of 8497
1.
rs1491552751 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 11:78143317
(GRCh38)
11:77854363
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78143315:AAA:A
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00023/9
(GnomAD)
- HGVS:
3.
rs1491457204 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:78143316
(GRCh38)
11:77854363
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78143316::C
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000896/4
(
ALFA)
C=0.000312/2
(1000Genomes)
C=0.00062/71
(GnomAD)
- HGVS:
4.
rs1491353023 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:78162617
(GRCh38)
11:77873664
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78162617::C
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000043/6
(GnomAD)
C=0.000073/2
(TOMMO)
- HGVS:
5.
rs1491247294 has merged into rs35830125 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:78168031
(GRCh38)
11:77879077
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:78168018:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0./0
(GENOME_DK)
- HGVS:
NC_000011.10:g.78168031_78168038del, NC_000011.10:g.78168032_78168038del, NC_000011.10:g.78168033_78168038del, NC_000011.10:g.78168034_78168038del, NC_000011.10:g.78168035_78168038del, NC_000011.10:g.78168036_78168038del, NC_000011.10:g.78168037_78168038del, NC_000011.10:g.78168038del, NC_000011.10:g.78168038dup, NC_000011.10:g.78168037_78168038dup, NC_000011.10:g.78168036_78168038dup, NC_000011.10:g.78168035_78168038dup, NC_000011.10:g.78168034_78168038dup, NC_000011.10:g.78168033_78168038dup, NC_000011.10:g.78168032_78168038dup, NC_000011.10:g.78168031_78168038dup, NC_000011.10:g.78168030_78168038dup, NC_000011.10:g.78168029_78168038dup, NC_000011.10:g.78168028_78168038dup, NC_000011.10:g.78168027_78168038dup, NC_000011.10:g.78168026_78168038dup, NC_000011.10:g.78168025_78168038dup, NC_000011.10:g.78168024_78168038dup, NC_000011.10:g.78168023_78168038dup, NC_000011.10:g.78168022_78168038dup, NC_000011.10:g.78168021_78168038dup, NC_000011.10:g.78168020_78168038dup, NC_000011.10:g.78168019_78168038dup, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.78168038_78168039insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879077_77879084del, NC_000011.9:g.77879078_77879084del, NC_000011.9:g.77879079_77879084del, NC_000011.9:g.77879080_77879084del, NC_000011.9:g.77879081_77879084del, NC_000011.9:g.77879082_77879084del, NC_000011.9:g.77879083_77879084del, NC_000011.9:g.77879084del, NC_000011.9:g.77879084dup, NC_000011.9:g.77879083_77879084dup, NC_000011.9:g.77879082_77879084dup, NC_000011.9:g.77879081_77879084dup, NC_000011.9:g.77879080_77879084dup, NC_000011.9:g.77879079_77879084dup, NC_000011.9:g.77879078_77879084dup, NC_000011.9:g.77879077_77879084dup, NC_000011.9:g.77879076_77879084dup, NC_000011.9:g.77879075_77879084dup, NC_000011.9:g.77879074_77879084dup, NC_000011.9:g.77879073_77879084dup, NC_000011.9:g.77879072_77879084dup, NC_000011.9:g.77879071_77879084dup, NC_000011.9:g.77879070_77879084dup, NC_000011.9:g.77879069_77879084dup, NC_000011.9:g.77879068_77879084dup, NC_000011.9:g.77879067_77879084dup, NC_000011.9:g.77879066_77879084dup, NC_000011.9:g.77879065_77879084dup, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.77879084_77879085insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
6.
rs1491131973 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 11:78147301
(GRCh38)
11:77858347
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78147298:AGAG:AG
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0./0
(ALSPAC)
-=0.000004/1
(TOPMED)
-=0.00027/1
(TWINSUK)
-=0.000546/1
(Korea1K)
- HGVS:
7.
rs1491037742 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 11:78138366
(GRCh38)
11:77849412
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78138364:ATA:A
- Gene:
- ALG8 (Varview), KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000117/16
(GnomAD)
- HGVS:
8.
rs1491028995 has merged into rs55930440 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:78162616
(GRCh38)
11:77873662
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:78162606:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0./0
(GENOME_DK)
- HGVS:
NC_000011.10:g.78162616_78162623del, NC_000011.10:g.78162619_78162623del, NC_000011.10:g.78162622_78162623del, NC_000011.10:g.78162623del, NC_000011.10:g.78162623dup, NC_000011.10:g.78162622_78162623dup, NC_000011.10:g.78162621_78162623dup, NC_000011.10:g.78162620_78162623dup, NC_000011.10:g.78162619_78162623dup, NC_000011.10:g.78162618_78162623dup, NC_000011.10:g.78162617_78162623dup, NC_000011.10:g.78162616_78162623dup, NC_000011.10:g.78162615_78162623dup, NC_000011.10:g.78162614_78162623dup, NC_000011.10:g.78162611_78162623dup, NC_000011.10:g.78162623_78162624insAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.78162623_78162624insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.77873662_77873669del, NC_000011.9:g.77873665_77873669del, NC_000011.9:g.77873668_77873669del, NC_000011.9:g.77873669del, NC_000011.9:g.77873669dup, NC_000011.9:g.77873668_77873669dup, NC_000011.9:g.77873667_77873669dup, NC_000011.9:g.77873666_77873669dup, NC_000011.9:g.77873665_77873669dup, NC_000011.9:g.77873664_77873669dup, NC_000011.9:g.77873663_77873669dup, NC_000011.9:g.77873662_77873669dup, NC_000011.9:g.77873661_77873669dup, NC_000011.9:g.77873660_77873669dup, NC_000011.9:g.77873657_77873669dup, NC_000011.9:g.77873669_77873670insAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.77873669_77873670insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
9.
rs1491012644 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:78144734
(GRCh38)
11:77855781
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78144734:T:TT
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000016/2
(GnomAD)
- HGVS:
10.
rs1490996049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:78171480
(GRCh38)
11:77882526
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78171479:A:C
- Gene:
- KCTD21 (Varview), KCTD21-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000011.10:g.78171480A>C, NC_000011.9:g.77882526A>C, XM_006718518.4:c.*2292T>G, XM_006718518.3:c.*2292T>G, XM_006718518.2:c.*2292T>G, XM_006718518.1:c.*2292T>G, XM_006718517.3:c.*2292T>G, XM_006718517.2:c.*2292T>G, XM_006718517.1:c.*2292T>G, NM_001029859.3:c.*2292T>G, NM_001029859.2:c.*2292T>G, NM_001029859.1:c.*2292T>G, XM_047426803.1:c.*2292T>G
11.
rs1490943766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:78167241
(GRCh38)
11:77878287
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78167240:T:G
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490932195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:78152673
(GRCh38)
11:77863719
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78152672:A:G
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490869218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:78138285
(GRCh38)
11:77849331
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78138284:G:A
- Gene:
- ALG8 (Varview), KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490722386 has merged into rs1360104294 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 11:78153825
(GRCh38)
11:77864871
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78153824:TTTTTTT:TTTTTT,NC_000011.10:78153824:TTTTTTT:TTTTTTTT
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490507218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 11:78170589
(GRCh38)
11:77881635
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78170588:A:C,NC_000011.10:78170588:A:G
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490498204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:78151081
(GRCh38)
11:77862127
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78151080:C:A
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490461216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:78172587
(GRCh38)
11:77883633
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78172586:A:G
- Gene:
- KCTD21 (Varview), KCTD21-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000139/2
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.00003/8
(TOPMED)
A=0.5/1
(SGDP_PRJ)
- HGVS:
NC_000011.10:g.78172587A>G, NC_000011.9:g.77883633A>G, XM_006718518.4:c.*1185T>C, XM_006718518.3:c.*1185T>C, XM_006718518.2:c.*1185T>C, XM_006718518.1:c.*1185T>C, XM_006718517.3:c.*1185T>C, XM_006718517.2:c.*1185T>C, XM_006718517.1:c.*1185T>C, NM_001029859.3:c.*1185T>C, NM_001029859.2:c.*1185T>C, NM_001029859.1:c.*1185T>C, XM_047426803.1:c.*1185T>C
18.
rs1490439823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:78152247
(GRCh38)
11:77863293
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78152246:C:G
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490317733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:78159758
(GRCh38)
11:77870804
(GRCh37)
- Canonical SPDI:
- NC_000011.10:78159757:A:G
- Gene:
- KCTD21-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS: