Links from Gene
Items: 1 to 20 of 22400
1.
rs1491399209 has merged into rs58986182 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT,GTGTGTGT
[Show Flanks]
- Chromosome:
- 8:43292857
(GRCh38)
8:43148000
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43292844:GTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000008.11:43292844:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000008.11:43292844:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000008.11:43292844:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT
- Gene:
- POTEA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.05/2
(GENOME_DK)
-=0.059458/15738
(TOPMED)
...more- HGVS:
4.
rs1491298415 has merged into rs1340138409 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T
[Show Flanks]
- Chromosome:
- 8:43299048
(GRCh38)
8:43154191
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43299046:TTT:T,NC_000008.11:43299046:TTT:TT
- Gene:
- POTEA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.02453/317
(GnomAD)
- HGVS:
5.
rs1491270488 has merged into rs1486230561 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 8:43299092
(GRCh38)
8:43154235
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43299090:TTT:T,NC_000008.11:43299090:TTT:TT,NC_000008.11:43299090:TTT:TTTT
- Gene:
- POTEA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.00014/9
(GnomAD)
-=0.00047/10
(TOMMO)
...more- HGVS:
7.
rs1491251123 has merged into rs58056216 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 8:43358358
(GRCh38)
8:43213501
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:43358343:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- POTEA (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.43358344GT[7], NC_000008.11:g.43358344GT[8], NC_000008.11:g.43358344GT[9], NC_000008.11:g.43358344GT[10], NC_000008.11:g.43358344GT[12], NC_000008.11:g.43358344GT[13], NC_000008.11:g.43358344GT[14], NC_000008.11:g.43358344GT[15], NC_000008.11:g.43358344GT[16], NC_000008.11:g.43358344GT[17], NC_000008.11:g.43358344GT[18], NC_000008.10:g.43213487GT[7], NC_000008.10:g.43213487GT[8], NC_000008.10:g.43213487GT[9], NC_000008.10:g.43213487GT[10], NC_000008.10:g.43213487GT[12], NC_000008.10:g.43213487GT[13], NC_000008.10:g.43213487GT[14], NC_000008.10:g.43213487GT[15], NC_000008.10:g.43213487GT[16], NC_000008.10:g.43213487GT[17], NC_000008.10:g.43213487GT[18] ...more
8.
rs1491207670 has merged into rs1554557275 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 8:43358371
(GRCh38)
8:43213514
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43358364:TATATATA:TATATA,NC_000008.11:43358364:TATATATA:TATATATATA
- Gene:
- POTEA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATA=0./0
(
ALFA)
TA=0.00012/2
(TOMMO)
- HGVS:
10.
rs1491092524 has merged into rs34724609 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCAAATGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTATATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:43336277
(GRCh38)
8:43191420
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCAAATGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTATATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:43336265:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- POTEA (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.05/2
(GENOME_DK)
-=0.1913/958
(1000Genomes)
...more- HGVS:
NC_000008.11:g.43336277_43336284del, NC_000008.11:g.43336278_43336284del, NC_000008.11:g.43336279_43336284del, NC_000008.11:g.43336280_43336284del, NC_000008.11:g.43336281_43336284del, NC_000008.11:g.43336282_43336284del, NC_000008.11:g.43336283_43336284del, NC_000008.11:g.43336284del, NC_000008.11:g.43336266_43336284T[19]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284dup, NC_000008.11:g.43336266_43336284T[20]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336283_43336284dup, NC_000008.11:g.43336282_43336284dup, NC_000008.11:g.43336281_43336284dup, NC_000008.11:g.43336280_43336284dup, NC_000008.11:g.43336279_43336284dup, NC_000008.11:g.43336278_43336284dup, NC_000008.11:g.43336277_43336284dup, NC_000008.11:g.43336276_43336284dup, NC_000008.11:g.43336275_43336284dup, NC_000008.11:g.43336274_43336284dup, NC_000008.11:g.43336273_43336284dup, NC_000008.11:g.43336272_43336284dup, NC_000008.11:g.43336271_43336284dup, NC_000008.11:g.43336270_43336284dup, NC_000008.11:g.43336269_43336284dup, NC_000008.11:g.43336268_43336284dup, NC_000008.11:g.43336266_43336284T[36]ATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[36]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336267_43336284dup, NC_000008.11:g.43336266_43336284dup, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[39]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[39]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[41]ATTTTTTTTTTTTTTTTTTTT[2]T[20], NC_000008.11:g.43336266_43336284T[41]CTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[42]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[43]ATTTTTTTTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[43]ATTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[43]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[44]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[47]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[50]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[51]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[55]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[56]CTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[57]CCAAATGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[57]CTTTATATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[57]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336266_43336284T[59]ATT[2]T[51], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336266_43336284T[62]CTTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.43336284_43336285insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191420_43191427del, NC_000008.10:g.43191421_43191427del, NC_000008.10:g.43191422_43191427del, NC_000008.10:g.43191423_43191427del, NC_000008.10:g.43191424_43191427del, NC_000008.10:g.43191425_43191427del, NC_000008.10:g.43191426_43191427del, NC_000008.10:g.43191427del, NC_000008.10:g.43191409_43191427T[19]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427dup, NC_000008.10:g.43191409_43191427T[20]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191426_43191427dup, NC_000008.10:g.43191425_43191427dup, NC_000008.10:g.43191424_43191427dup, NC_000008.10:g.43191423_43191427dup, NC_000008.10:g.43191422_43191427dup, NC_000008.10:g.43191421_43191427dup, NC_000008.10:g.43191420_43191427dup, NC_000008.10:g.43191419_43191427dup, NC_000008.10:g.43191418_43191427dup, NC_000008.10:g.43191417_43191427dup, NC_000008.10:g.43191416_43191427dup, NC_000008.10:g.43191415_43191427dup, NC_000008.10:g.43191414_43191427dup, NC_000008.10:g.43191413_43191427dup, NC_000008.10:g.43191412_43191427dup, NC_000008.10:g.43191411_43191427dup, NC_000008.10:g.43191409_43191427T[36]ATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[36]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191410_43191427dup, NC_000008.10:g.43191409_43191427dup, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[39]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[39]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[41]ATTTTTTTTTTTTTTTTTTTT[2]T[20], NC_000008.10:g.43191409_43191427T[41]CTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[42]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[43]ATTTTTTTTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[43]ATTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[43]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[43]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[44]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[47]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[50]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[51]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[55]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[56]CTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[57]CCAAATGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[57]CTTTATATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[57]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191409_43191427T[59]ATT[2]T[51], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191409_43191427T[62]CTTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.43191427_43191428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ...more
11.
rs1490954261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 8:43308894
(GRCh38)
8:43164037
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43308893:C:A,NC_000008.11:43308893:C:G,NC_000008.11:43308893:C:T
- Gene:
- POTEA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000071/1
(TOMMO)
T=0.000625/4
(1000Genomes)
...more- HGVS:
12.
rs1490937080 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:43307691
(GRCh38)
8:43162834
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43307690:G:C
- Gene:
- POTEA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490914512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:43296428
(GRCh38)
8:43151571
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43296427:C:G
- Gene:
- POTEA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.00003/8
(TOPMED)
...more- HGVS:
14.
rs1490864275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 8:43328095
(GRCh38)
8:43183238
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43328094:A:C,NC_000008.11:43328094:A:T
- Gene:
- POTEA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490795553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:43351958
(GRCh38)
8:43207101
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43351957:C:T
- Gene:
- POTEA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000064/9
(GnomAD)
T=0.000071/2
(TOMMO)
...more- HGVS:
18.
rs1490748107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:43344610
(GRCh38)
8:43199753
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43344609:C:G
- Gene:
- POTEA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00008/1
(
ALFA)
G=0.00376/11
(KOREAN)
- HGVS:
19.
rs1490743759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:43312148
(GRCh38)
8:43167291
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43312147:A:G
- Gene:
- POTEA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490729993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:43352868
(GRCh38)
8:43208011
(GRCh37)
- Canonical SPDI:
- NC_000008.11:43352867:A:G
- Gene:
- POTEA (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: