Links from Gene
Items: 1 to 20 of 1000
1.
rs1491563978 has merged into rs57284715 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:55349616
(GRCh38)
14:55816334
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55349607:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
NC_000014.9:g.55349616_55349625del, NC_000014.9:g.55349617_55349625del, NC_000014.9:g.55349618_55349625del, NC_000014.9:g.55349619_55349625del, NC_000014.9:g.55349620_55349625del, NC_000014.9:g.55349621_55349625del, NC_000014.9:g.55349622_55349625del, NC_000014.9:g.55349623_55349625del, NC_000014.9:g.55349624_55349625del, NC_000014.9:g.55349625del, NC_000014.9:g.55349625dup, NC_000014.9:g.55349624_55349625dup, NC_000014.9:g.55349623_55349625dup, NC_000014.9:g.55349622_55349625dup, NC_000014.9:g.55349621_55349625dup, NC_000014.9:g.55349620_55349625dup, NC_000014.9:g.55349619_55349625dup, NC_000014.9:g.55349618_55349625dup, NC_000014.9:g.55349617_55349625dup, NC_000014.9:g.55349616_55349625dup, NC_000014.9:g.55349615_55349625dup, NC_000014.9:g.55349614_55349625dup, NC_000014.9:g.55349613_55349625dup, NC_000014.9:g.55349612_55349625dup, NC_000014.9:g.55349610_55349625dup, NC_000014.9:g.55349625_55349626insTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.55349625_55349626insTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.55349625_55349626insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.55349625_55349626insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.55349625_55349626insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55816334_55816343del, NC_000014.8:g.55816335_55816343del, NC_000014.8:g.55816336_55816343del, NC_000014.8:g.55816337_55816343del, NC_000014.8:g.55816338_55816343del, NC_000014.8:g.55816339_55816343del, NC_000014.8:g.55816340_55816343del, NC_000014.8:g.55816341_55816343del, NC_000014.8:g.55816342_55816343del, NC_000014.8:g.55816343del, NC_000014.8:g.55816343dup, NC_000014.8:g.55816342_55816343dup, NC_000014.8:g.55816341_55816343dup, NC_000014.8:g.55816340_55816343dup, NC_000014.8:g.55816339_55816343dup, NC_000014.8:g.55816338_55816343dup, NC_000014.8:g.55816337_55816343dup, NC_000014.8:g.55816336_55816343dup, NC_000014.8:g.55816335_55816343dup, NC_000014.8:g.55816334_55816343dup, NC_000014.8:g.55816333_55816343dup, NC_000014.8:g.55816332_55816343dup, NC_000014.8:g.55816331_55816343dup, NC_000014.8:g.55816330_55816343dup, NC_000014.8:g.55816328_55816343dup, NC_000014.8:g.55816343_55816344insTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55816343_55816344insTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55816343_55816344insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55816343_55816344insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55816343_55816344insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491537640 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:55310957
(GRCh38)
14:55777675
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55310955:ACA:A
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
-=0.00008/11
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
3.
rs1491530554 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 14:55295410
(GRCh38)
14:55762128
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55295409:TG:
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.015263/249
(
ALFA)
-=0.001098/2
(Korea1K)
-=0.001527/171
(GnomAD)
- HGVS:
4.
rs1491529487 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:55322309
(GRCh38)
14:55789027
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55322308:CA:
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.00078/22
(TOMMO)
- HGVS:
5.
rs1491503034 has merged into rs60464365 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:55284632
(GRCh38)
14:55751350
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55284621:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:55284621:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:55284621:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:55284621:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:55284621:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:55284621:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:55284621:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:55284621:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.495208/2480
(1000Genomes)
- HGVS:
NC_000014.9:g.55284632_55284638del, NC_000014.9:g.55284635_55284638del, NC_000014.9:g.55284636_55284638del, NC_000014.9:g.55284637_55284638del, NC_000014.9:g.55284638del, NC_000014.9:g.55284638dup, NC_000014.9:g.55284637_55284638dup, NC_000014.9:g.55284631_55284638dup, NC_000014.8:g.55751350_55751356del, NC_000014.8:g.55751353_55751356del, NC_000014.8:g.55751354_55751356del, NC_000014.8:g.55751355_55751356del, NC_000014.8:g.55751356del, NC_000014.8:g.55751356dup, NC_000014.8:g.55751355_55751356dup, NC_000014.8:g.55751349_55751356dup
6.
rs1491480589 has merged into rs776454579 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC
[Show Flanks]
- Chromosome:
- 14:55339388
(GRCh38)
14:55806106
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55339378:CCCCCCCCCCC:CCCCCCCCC,NC_000014.9:55339378:CCCCCCCCCCC:CCCCCCCCCC,NC_000014.9:55339378:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000014.9:55339378:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000014.9:55339378:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000014.9:55339378:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000014.9:55339378:CCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000014.9:55339378:CCCCCCCCCCC:CCCCCCCCCCCCCCCCC
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.55339388_55339389del, NC_000014.9:g.55339389del, NC_000014.9:g.55339389dup, NC_000014.9:g.55339388_55339389dup, NC_000014.9:g.55339387_55339389dup, NC_000014.9:g.55339386_55339389dup, NC_000014.9:g.55339385_55339389dup, NC_000014.9:g.55339384_55339389dup, NC_000014.8:g.55806106_55806107del, NC_000014.8:g.55806107del, NC_000014.8:g.55806107dup, NC_000014.8:g.55806106_55806107dup, NC_000014.8:g.55806105_55806107dup, NC_000014.8:g.55806104_55806107dup, NC_000014.8:g.55806103_55806107dup, NC_000014.8:g.55806102_55806107dup
7.
rs1491467428 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:55275824
(GRCh38)
14:55742543
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55275824::G
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00006/2
(GnomAD)
- HGVS:
8.
rs1491454125 has merged into rs1167344634 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:55296402
(GRCh38)
14:55763120
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55296391:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.55296402_55296415del, NC_000014.9:g.55296403_55296415del, NC_000014.9:g.55296404_55296415del, NC_000014.9:g.55296405_55296415del, NC_000014.9:g.55296406_55296415del, NC_000014.9:g.55296407_55296415del, NC_000014.9:g.55296408_55296415del, NC_000014.9:g.55296409_55296415del, NC_000014.9:g.55296410_55296415del, NC_000014.9:g.55296411_55296415del, NC_000014.9:g.55296412_55296415del, NC_000014.9:g.55296413_55296415del, NC_000014.9:g.55296414_55296415del, NC_000014.9:g.55296415del, NC_000014.9:g.55296415dup, NC_000014.9:g.55296414_55296415dup, NC_000014.9:g.55296413_55296415dup, NC_000014.9:g.55296412_55296415dup, NC_000014.9:g.55296411_55296415dup, NC_000014.9:g.55296410_55296415dup, NC_000014.9:g.55296409_55296415dup, NC_000014.9:g.55296408_55296415dup, NC_000014.9:g.55296407_55296415dup, NC_000014.9:g.55296406_55296415dup, NC_000014.9:g.55296405_55296415dup, NC_000014.9:g.55296404_55296415dup, NC_000014.9:g.55296403_55296415dup, NC_000014.9:g.55296402_55296415dup, NC_000014.9:g.55296401_55296415dup, NC_000014.9:g.55296400_55296415dup, NC_000014.9:g.55296399_55296415dup, NC_000014.9:g.55296398_55296415dup, NC_000014.9:g.55296397_55296415dup, NC_000014.9:g.55296396_55296415dup, NC_000014.9:g.55296395_55296415dup, NC_000014.9:g.55296394_55296415dup, NC_000014.9:g.55296393_55296415dup, NC_000014.9:g.55296392_55296415dup, NC_000014.9:g.55296415_55296416insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.55296415_55296416insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.55296415_55296416insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.55296415_55296416insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.55296415_55296416insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.55296415_55296416insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.55296415_55296416insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55763120_55763133del, NC_000014.8:g.55763121_55763133del, NC_000014.8:g.55763122_55763133del, NC_000014.8:g.55763123_55763133del, NC_000014.8:g.55763124_55763133del, NC_000014.8:g.55763125_55763133del, NC_000014.8:g.55763126_55763133del, NC_000014.8:g.55763127_55763133del, NC_000014.8:g.55763128_55763133del, NC_000014.8:g.55763129_55763133del, NC_000014.8:g.55763130_55763133del, NC_000014.8:g.55763131_55763133del, NC_000014.8:g.55763132_55763133del, NC_000014.8:g.55763133del, NC_000014.8:g.55763133dup, NC_000014.8:g.55763132_55763133dup, NC_000014.8:g.55763131_55763133dup, NC_000014.8:g.55763130_55763133dup, NC_000014.8:g.55763129_55763133dup, NC_000014.8:g.55763128_55763133dup, NC_000014.8:g.55763127_55763133dup, NC_000014.8:g.55763126_55763133dup, NC_000014.8:g.55763125_55763133dup, NC_000014.8:g.55763124_55763133dup, NC_000014.8:g.55763123_55763133dup, NC_000014.8:g.55763122_55763133dup, NC_000014.8:g.55763121_55763133dup, NC_000014.8:g.55763120_55763133dup, NC_000014.8:g.55763119_55763133dup, NC_000014.8:g.55763118_55763133dup, NC_000014.8:g.55763117_55763133dup, NC_000014.8:g.55763116_55763133dup, NC_000014.8:g.55763115_55763133dup, NC_000014.8:g.55763114_55763133dup, NC_000014.8:g.55763113_55763133dup, NC_000014.8:g.55763112_55763133dup, NC_000014.8:g.55763111_55763133dup, NC_000014.8:g.55763110_55763133dup, NC_000014.8:g.55763133_55763134insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55763133_55763134insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55763133_55763134insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55763133_55763134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55763133_55763134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55763133_55763134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.55763133_55763134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
9.
rs1491450820 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:55283944
(GRCh38)
14:55750662
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55283942:TAT:T
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.008195/125
(
ALFA)
-=0.005/3
(NorthernSweden)
-=0.010519/1260
(GnomAD)
-=0.011756/197
(TOMMO)
-=0.06041/224
(TWINSUK)
-=0.064608/249
(ALSPAC)
- HGVS:
10.
rs1491437568 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,T
[Show Flanks]
- Chromosome:
- 14:55339379
(GRCh38)
14:55806098
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55339379::G,NC_000014.9:55339379::T
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000051/2
(GnomAD)
- HGVS:
11.
rs1491401432 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 14:55296392
(GRCh38)
14:55763111
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55296392:T:TGT
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.000004/1
(TOPMED)
- HGVS:
12.
rs1491399682 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 14:55349608
(GRCh38)
14:55816327
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55349608:TT:TTCTT
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTT=0./0
(
ALFA)
TTC=0.00006/2
(GnomAD)
- HGVS:
13.
rs1491382268 has merged into rs1194283087 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:55323240
(GRCh38)
14:55789958
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:55323225:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.0714/76
(Korea1K)
- HGVS:
NC_000014.9:g.55323240_55323248del, NC_000014.9:g.55323242_55323248del, NC_000014.9:g.55323244_55323248del, NC_000014.9:g.55323245_55323248del, NC_000014.9:g.55323246_55323248del, NC_000014.9:g.55323247_55323248del, NC_000014.9:g.55323248del, NC_000014.9:g.55323248dup, NC_000014.9:g.55323247_55323248dup, NC_000014.9:g.55323246_55323248dup, NC_000014.9:g.55323245_55323248dup, NC_000014.9:g.55323244_55323248dup, NC_000014.9:g.55323243_55323248dup, NC_000014.9:g.55323242_55323248dup, NC_000014.9:g.55323241_55323248dup, NC_000014.8:g.55789958_55789966del, NC_000014.8:g.55789960_55789966del, NC_000014.8:g.55789962_55789966del, NC_000014.8:g.55789963_55789966del, NC_000014.8:g.55789964_55789966del, NC_000014.8:g.55789965_55789966del, NC_000014.8:g.55789966del, NC_000014.8:g.55789966dup, NC_000014.8:g.55789965_55789966dup, NC_000014.8:g.55789964_55789966dup, NC_000014.8:g.55789963_55789966dup, NC_000014.8:g.55789962_55789966dup, NC_000014.8:g.55789961_55789966dup, NC_000014.8:g.55789960_55789966dup, NC_000014.8:g.55789959_55789966dup
14.
rs1491370677 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATA,ATATATATTAATATATATAAATATATATA,ATATATTATATATATATATA,ATATATTTTA,CTA,G,GTATATATA
[Show Flanks]
- Chromosome:
- 14:55323226
(GRCh38)
14:55789945
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55323226::A,NC_000014.9:55323226::ATA,NC_000014.9:55323226::ATATA,NC_000014.9:55323226::ATATATA,NC_000014.9:55323226::ATATATATA,NC_000014.9:55323226::ATATATATATA,NC_000014.9:55323226::ATATATATATATA,NC_000014.9:55323226::ATATATATATATATA,NC_000014.9:55323226::ATATATATATATATATA,NC_000014.9:55323226::ATATATATATATATATATA,NC_000014.9:55323226::ATATATATATATATATATATA,NC_000014.9:55323226::ATATATATATATATATATATATA,NC_000014.9:55323226::ATATATATATATATATATATATATA,NC_000014.9:55323226::ATATATATATATATATATATATATATA,NC_000014.9:55323226::ATATATATATATATATATATATATATATA,NC_000014.9:55323226::ATATATATATATATATATATATATATATATA,NC_000014.9:55323226::ATATATATTAATATATATAAATATATATA,NC_000014.9:55323226::ATATATTATATATATATATA,NC_000014.9:55323226::ATATATTTTA,NC_000014.9:55323226::CTA,NC_000014.9:55323226::G,NC_000014.9:55323226::GTATATATA
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.55323226_55323227insA, NC_000014.9:g.55323226_55323227insATA, NC_000014.9:g.55323226_55323227insATATA, NC_000014.9:g.55323226_55323227insATATATA, NC_000014.9:g.55323226_55323227insATATATATA, NC_000014.9:g.55323226_55323227insATATATATATA, NC_000014.9:g.55323226_55323227insATATATATATATA, NC_000014.9:g.55323226_55323227insATATATATATATATA, NC_000014.9:g.55323226_55323227insATATATATATATATATA, NC_000014.9:g.55323226_55323227insATATATATATATATATATA, NC_000014.9:g.55323226_55323227insATATATATATATATATATATA, NC_000014.9:g.55323226_55323227insATATATATATATATATATATATA, NC_000014.9:g.55323226_55323227insATATATATATATATATATATATATA, NC_000014.9:g.55323226_55323227insATATATATATATATATATATATATATA, NC_000014.9:g.55323226_55323227insATATATATATATATATATATATATATATA, NC_000014.9:g.55323226_55323227insATATATATATATATATATATATATATATATA, NC_000014.9:g.55323226_55323227insATATATATTAATATATATAAATATATATA, NC_000014.9:g.55323226_55323227insATATATTATATATATATATA, NC_000014.9:g.55323226_55323227insATATATTTTA, NC_000014.9:g.55323226_55323227insCTA, NC_000014.9:g.55323226_55323227insG, NC_000014.9:g.55323226_55323227insGTATATATA, NC_000014.8:g.55789944_55789945insA, NC_000014.8:g.55789944_55789945insATA, NC_000014.8:g.55789944_55789945insATATA, NC_000014.8:g.55789944_55789945insATATATA, NC_000014.8:g.55789944_55789945insATATATATA, NC_000014.8:g.55789944_55789945insATATATATATA, NC_000014.8:g.55789944_55789945insATATATATATATA, NC_000014.8:g.55789944_55789945insATATATATATATATA, NC_000014.8:g.55789944_55789945insATATATATATATATATA, NC_000014.8:g.55789944_55789945insATATATATATATATATATA, NC_000014.8:g.55789944_55789945insATATATATATATATATATATA, NC_000014.8:g.55789944_55789945insATATATATATATATATATATATA, NC_000014.8:g.55789944_55789945insATATATATATATATATATATATATA, NC_000014.8:g.55789944_55789945insATATATATATATATATATATATATATA, NC_000014.8:g.55789944_55789945insATATATATATATATATATATATATATATA, NC_000014.8:g.55789944_55789945insATATATATATATATATATATATATATATATA, NC_000014.8:g.55789944_55789945insATATATATTAATATATATAAATATATATA, NC_000014.8:g.55789944_55789945insATATATTATATATATATATA, NC_000014.8:g.55789944_55789945insATATATTTTA, NC_000014.8:g.55789944_55789945insCTA, NC_000014.8:g.55789944_55789945insG, NC_000014.8:g.55789944_55789945insGTATATATA
17.
rs1491283473 has merged into rs57849080 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:55275832
(GRCh38)
14:55742550
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:55275823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2869/1437
(1000Genomes)
- HGVS:
NC_000014.9:g.55275832_55275841del, NC_000014.9:g.55275838_55275841del, NC_000014.9:g.55275839_55275841del, NC_000014.9:g.55275840_55275841del, NC_000014.9:g.55275841del, NC_000014.9:g.55275841dup, NC_000014.9:g.55275840_55275841dup, NC_000014.9:g.55275839_55275841dup, NC_000014.9:g.55275838_55275841dup, NC_000014.9:g.55275837_55275841dup, NC_000014.9:g.55275836_55275841dup, NC_000014.9:g.55275835_55275841dup, NC_000014.8:g.55742550_55742559del, NC_000014.8:g.55742556_55742559del, NC_000014.8:g.55742557_55742559del, NC_000014.8:g.55742558_55742559del, NC_000014.8:g.55742559del, NC_000014.8:g.55742559dup, NC_000014.8:g.55742558_55742559dup, NC_000014.8:g.55742557_55742559dup, NC_000014.8:g.55742556_55742559dup, NC_000014.8:g.55742555_55742559dup, NC_000014.8:g.55742554_55742559dup, NC_000014.8:g.55742553_55742559dup
18.
rs1491272924 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 14:55327907
(GRCh38)
14:55794625
(GRCh37)
- Canonical SPDI:
- NC_000014.9:55327906:GG:
- Gene:
- FBXO34 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000016/2
(GnomAD)
- HGVS: