Links from Gene
Items: 1 to 20 of 1000
1.
rs1491580725 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 13:45184394
(GRCh38)
13:45758529
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45184392:CGC:C
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
-=0.000051/7
(GnomAD)
- HGVS:
2.
rs1491556950 has merged into rs11326737 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:45144463
(GRCh38)
13:45718598
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45144457:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
T=0.2923/1464
(1000Genomes)
- HGVS:
NC_000013.11:g.45144463_45144478del, NC_000013.11:g.45144467_45144478del, NC_000013.11:g.45144468_45144478del, NC_000013.11:g.45144469_45144478del, NC_000013.11:g.45144471_45144478del, NC_000013.11:g.45144474_45144478del, NC_000013.11:g.45144475_45144478del, NC_000013.11:g.45144477_45144478del, NC_000013.11:g.45144478del, NC_000013.11:g.45144478dup, NC_000013.11:g.45144458_45144478T[22]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.45144477_45144478dup, NC_000013.11:g.45144476_45144478dup, NC_000013.11:g.45144475_45144478dup, NC_000013.11:g.45144474_45144478dup, NC_000013.11:g.45144458_45144478T[26]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.45144473_45144478dup, NC_000013.11:g.45144469_45144478dup, NC_000013.11:g.45144468_45144478dup, NC_000013.11:g.45144461_45144478dup, NC_000013.11:g.45144458_45144478dup, NC_000013.11:g.45144478_45144479insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.45144478_45144479insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.45144478_45144479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.45718598_45718613del, NC_000013.10:g.45718602_45718613del, NC_000013.10:g.45718603_45718613del, NC_000013.10:g.45718604_45718613del, NC_000013.10:g.45718606_45718613del, NC_000013.10:g.45718609_45718613del, NC_000013.10:g.45718610_45718613del, NC_000013.10:g.45718612_45718613del, NC_000013.10:g.45718613del, NC_000013.10:g.45718613dup, NC_000013.10:g.45718593_45718613T[22]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.45718612_45718613dup, NC_000013.10:g.45718611_45718613dup, NC_000013.10:g.45718610_45718613dup, NC_000013.10:g.45718609_45718613dup, NC_000013.10:g.45718593_45718613T[26]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.45718608_45718613dup, NC_000013.10:g.45718604_45718613dup, NC_000013.10:g.45718603_45718613dup, NC_000013.10:g.45718596_45718613dup, NC_000013.10:g.45718593_45718613dup, NC_000013.10:g.45718613_45718614insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.45718613_45718614insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.45718613_45718614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491541144 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 13:45167231
(GRCh38)
13:45741367
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45167231:A:AA
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000092/12
(GnomAD)
- HGVS:
7.
rs1491503569 has merged into rs5803286 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:45165814
(GRCh38)
13:45739949
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45165806:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.26797/1342
(1000Genomes)
- HGVS:
NC_000013.11:g.45165814_45165830del, NC_000013.11:g.45165816_45165830del, NC_000013.11:g.45165817_45165830del, NC_000013.11:g.45165818_45165830del, NC_000013.11:g.45165819_45165830del, NC_000013.11:g.45165820_45165830del, NC_000013.11:g.45165821_45165830del, NC_000013.11:g.45165823_45165830del, NC_000013.11:g.45165824_45165830del, NC_000013.11:g.45165825_45165830del, NC_000013.11:g.45165826_45165830del, NC_000013.11:g.45165827_45165830del, NC_000013.11:g.45165828_45165830del, NC_000013.11:g.45165829_45165830del, NC_000013.11:g.45165830del, NC_000013.11:g.45165830dup, NC_000013.11:g.45165829_45165830dup, NC_000013.11:g.45165828_45165830dup, NC_000013.11:g.45165827_45165830dup, NC_000013.11:g.45165826_45165830dup, NC_000013.11:g.45165825_45165830dup, NC_000013.11:g.45165824_45165830dup, NC_000013.11:g.45165823_45165830dup, NC_000013.11:g.45165822_45165830dup, NC_000013.11:g.45165819_45165830dup, NC_000013.11:g.45165817_45165830dup, NC_000013.11:g.45165814_45165830dup, NC_000013.11:g.45165813_45165830dup, NC_000013.11:g.45165830_45165831insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.45739949_45739965del, NC_000013.10:g.45739951_45739965del, NC_000013.10:g.45739952_45739965del, NC_000013.10:g.45739953_45739965del, NC_000013.10:g.45739954_45739965del, NC_000013.10:g.45739955_45739965del, NC_000013.10:g.45739956_45739965del, NC_000013.10:g.45739958_45739965del, NC_000013.10:g.45739959_45739965del, NC_000013.10:g.45739960_45739965del, NC_000013.10:g.45739961_45739965del, NC_000013.10:g.45739962_45739965del, NC_000013.10:g.45739963_45739965del, NC_000013.10:g.45739964_45739965del, NC_000013.10:g.45739965del, NC_000013.10:g.45739965dup, NC_000013.10:g.45739964_45739965dup, NC_000013.10:g.45739963_45739965dup, NC_000013.10:g.45739962_45739965dup, NC_000013.10:g.45739961_45739965dup, NC_000013.10:g.45739960_45739965dup, NC_000013.10:g.45739959_45739965dup, NC_000013.10:g.45739958_45739965dup, NC_000013.10:g.45739957_45739965dup, NC_000013.10:g.45739954_45739965dup, NC_000013.10:g.45739952_45739965dup, NC_000013.10:g.45739949_45739965dup, NC_000013.10:g.45739948_45739965dup, NC_000013.10:g.45739965_45739966insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1491496598 has merged into rs397950608 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:45174643
(GRCh38)
13:45748778
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:45174634:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000013.11:g.45174643_45174655del, NC_000013.11:g.45174644_45174655del, NC_000013.11:g.45174645_45174655del, NC_000013.11:g.45174646_45174655del, NC_000013.11:g.45174647_45174655del, NC_000013.11:g.45174648_45174655del, NC_000013.11:g.45174649_45174655del, NC_000013.11:g.45174650_45174655del, NC_000013.11:g.45174651_45174655del, NC_000013.11:g.45174652_45174655del, NC_000013.11:g.45174653_45174655del, NC_000013.11:g.45174654_45174655del, NC_000013.11:g.45174655del, NC_000013.11:g.45174655dup, NC_000013.11:g.45174654_45174655dup, NC_000013.11:g.45174653_45174655dup, NC_000013.11:g.45174652_45174655dup, NC_000013.11:g.45174651_45174655dup, NC_000013.11:g.45174650_45174655dup, NC_000013.11:g.45174649_45174655dup, NC_000013.11:g.45174648_45174655dup, NC_000013.11:g.45174647_45174655dup, NC_000013.11:g.45174646_45174655dup, NC_000013.11:g.45174645_45174655dup, NC_000013.11:g.45174644_45174655dup, NC_000013.11:g.45174643_45174655dup, NC_000013.11:g.45174642_45174655dup, NC_000013.11:g.45174641_45174655dup, NC_000013.11:g.45174640_45174655dup, NC_000013.11:g.45174637_45174655dup, NC_000013.10:g.45748778_45748790del, NC_000013.10:g.45748779_45748790del, NC_000013.10:g.45748780_45748790del, NC_000013.10:g.45748781_45748790del, NC_000013.10:g.45748782_45748790del, NC_000013.10:g.45748783_45748790del, NC_000013.10:g.45748784_45748790del, NC_000013.10:g.45748785_45748790del, NC_000013.10:g.45748786_45748790del, NC_000013.10:g.45748787_45748790del, NC_000013.10:g.45748788_45748790del, NC_000013.10:g.45748789_45748790del, NC_000013.10:g.45748790del, NC_000013.10:g.45748790dup, NC_000013.10:g.45748789_45748790dup, NC_000013.10:g.45748788_45748790dup, NC_000013.10:g.45748787_45748790dup, NC_000013.10:g.45748786_45748790dup, NC_000013.10:g.45748785_45748790dup, NC_000013.10:g.45748784_45748790dup, NC_000013.10:g.45748783_45748790dup, NC_000013.10:g.45748782_45748790dup, NC_000013.10:g.45748781_45748790dup, NC_000013.10:g.45748780_45748790dup, NC_000013.10:g.45748779_45748790dup, NC_000013.10:g.45748778_45748790dup, NC_000013.10:g.45748777_45748790dup, NC_000013.10:g.45748776_45748790dup, NC_000013.10:g.45748775_45748790dup, NC_000013.10:g.45748772_45748790dup
9.
rs1491487156 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 13:45245666
(GRCh38)
13:45819801
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45245665:AA:
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491473334 has merged into rs1237337924 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 13:45181200
(GRCh38)
13:45755335
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45181189:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:45181189:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:45181189:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:45181189:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:45181189:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:45181189:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000013.11:g.45181200_45181203del, NC_000013.11:g.45181201_45181203del, NC_000013.11:g.45181202_45181203del, NC_000013.11:g.45181203del, NC_000013.11:g.45181203dup, NC_000013.11:g.45181202_45181203dup, NC_000013.10:g.45755335_45755338del, NC_000013.10:g.45755336_45755338del, NC_000013.10:g.45755337_45755338del, NC_000013.10:g.45755338del, NC_000013.10:g.45755338dup, NC_000013.10:g.45755337_45755338dup
13.
rs1491425911 has merged into rs71070960 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:45153987
(GRCh38)
13:45728122
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45153976:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAA=0.025/1
(GENOME_DK)
-=0.251/1257
(1000Genomes)
- HGVS:
NC_000013.11:g.45153987_45154000del, NC_000013.11:g.45153988_45154000del, NC_000013.11:g.45153989_45154000del, NC_000013.11:g.45153990_45154000del, NC_000013.11:g.45153992_45154000del, NC_000013.11:g.45153993_45154000del, NC_000013.11:g.45153994_45154000del, NC_000013.11:g.45153995_45154000del, NC_000013.11:g.45153996_45154000del, NC_000013.11:g.45153997_45154000del, NC_000013.11:g.45153998_45154000del, NC_000013.11:g.45153999_45154000del, NC_000013.11:g.45154000del, NC_000013.11:g.45154000dup, NC_000013.11:g.45153999_45154000dup, NC_000013.11:g.45153998_45154000dup, NC_000013.11:g.45153997_45154000dup, NC_000013.11:g.45153996_45154000dup, NC_000013.11:g.45153993_45154000dup, NC_000013.11:g.45154000_45154001insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.45154000_45154001insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.45728122_45728135del, NC_000013.10:g.45728123_45728135del, NC_000013.10:g.45728124_45728135del, NC_000013.10:g.45728125_45728135del, NC_000013.10:g.45728127_45728135del, NC_000013.10:g.45728128_45728135del, NC_000013.10:g.45728129_45728135del, NC_000013.10:g.45728130_45728135del, NC_000013.10:g.45728131_45728135del, NC_000013.10:g.45728132_45728135del, NC_000013.10:g.45728133_45728135del, NC_000013.10:g.45728134_45728135del, NC_000013.10:g.45728135del, NC_000013.10:g.45728135dup, NC_000013.10:g.45728134_45728135dup, NC_000013.10:g.45728133_45728135dup, NC_000013.10:g.45728132_45728135dup, NC_000013.10:g.45728131_45728135dup, NC_000013.10:g.45728128_45728135dup, NC_000013.10:g.45728135_45728136insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.45728135_45728136insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
14.
rs1491416967 has merged into rs1555265772 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 13:45165340
(GRCh38)
13:45739475
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45165331:TTTTTTTTTT:TTTTTTTT,NC_000013.11:45165331:TTTTTTTTTT:TTTTTTTTT,NC_000013.11:45165331:TTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:45165331:TTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:45165331:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:45165331:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:45165331:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:45165331:TTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.030182/7989
(TOPMED)
-=0.294118/10
(GENOME_DK)
- HGVS:
NC_000013.11:g.45165340_45165341del, NC_000013.11:g.45165341del, NC_000013.11:g.45165341dup, NC_000013.11:g.45165340_45165341dup, NC_000013.11:g.45165339_45165341dup, NC_000013.11:g.45165338_45165341dup, NC_000013.11:g.45165337_45165341dup, NC_000013.11:g.45165336_45165341dup, NC_000013.10:g.45739475_45739476del, NC_000013.10:g.45739476del, NC_000013.10:g.45739476dup, NC_000013.10:g.45739475_45739476dup, NC_000013.10:g.45739474_45739476dup, NC_000013.10:g.45739473_45739476dup, NC_000013.10:g.45739472_45739476dup, NC_000013.10:g.45739471_45739476dup
15.
rs1491416664 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 13:45236529
(GRCh38)
13:45810664
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45236528:AA:
- Gene:
- GTF2F2 (Varview), LOC105370190 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0./0
(Korea1K)
-=0.000008/1
(GnomAD)
- HGVS:
16.
rs1491405254 has merged into rs1491328137 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 13:45165567
(GRCh38)
13:45739702
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45165565:CGC:C
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.010538/125
(
ALFA)
-=0.014205/1793
(GnomAD)
-=0.043131/216
(1000Genomes)
- HGVS:
17.
rs1491394290 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 13:45221728
(GRCh38)
13:45795863
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45221727:TG:
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.0009/4
(
ALFA)
-=0.0011/5
(Estonian)
- HGVS:
18.
rs1491378591 has merged into rs34165758 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:45149444
(GRCh38)
13:45723579
(GRCh37)
- Canonical SPDI:
- NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:45149433:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GTF2F2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1563/783
(1000Genomes)
- HGVS:
NC_000013.11:g.45149444_45149450del, NC_000013.11:g.45149446_45149450del, NC_000013.11:g.45149447_45149450del, NC_000013.11:g.45149448_45149450del, NC_000013.11:g.45149449_45149450del, NC_000013.11:g.45149450del, NC_000013.11:g.45149450dup, NC_000013.11:g.45149449_45149450dup, NC_000013.11:g.45149448_45149450dup, NC_000013.11:g.45149447_45149450dup, NC_000013.11:g.45149443_45149450dup, NC_000013.10:g.45723579_45723585del, NC_000013.10:g.45723581_45723585del, NC_000013.10:g.45723582_45723585del, NC_000013.10:g.45723583_45723585del, NC_000013.10:g.45723584_45723585del, NC_000013.10:g.45723585del, NC_000013.10:g.45723585dup, NC_000013.10:g.45723584_45723585dup, NC_000013.10:g.45723583_45723585dup, NC_000013.10:g.45723582_45723585dup, NC_000013.10:g.45723578_45723585dup