Links from Gene
Items: 1 to 20 of 7317
4.
rs1491375160 has merged into rs60769000 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:75633851
(GRCh38)
13:76207987
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75633841:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LMO7 (Varview), LMO7-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000013.11:g.75633851_75633866del, NC_000013.11:g.75633852_75633866del, NC_000013.11:g.75633853_75633866del, NC_000013.11:g.75633854_75633866del, NC_000013.11:g.75633855_75633866del, NC_000013.11:g.75633856_75633866del, NC_000013.11:g.75633857_75633866del, NC_000013.11:g.75633858_75633866del, NC_000013.11:g.75633859_75633866del, NC_000013.11:g.75633860_75633866del, NC_000013.11:g.75633861_75633866del, NC_000013.11:g.75633862_75633866del, NC_000013.11:g.75633863_75633866del, NC_000013.11:g.75633864_75633866del, NC_000013.11:g.75633865_75633866del, NC_000013.11:g.75633866del, NC_000013.11:g.75633866dup, NC_000013.11:g.75633865_75633866dup, NC_000013.11:g.75633864_75633866dup, NC_000013.11:g.75633863_75633866dup, NC_000013.11:g.75633862_75633866dup, NC_000013.11:g.75633861_75633866dup, NC_000013.11:g.75633860_75633866dup, NC_000013.11:g.75633859_75633866dup, NC_000013.11:g.75633857_75633866dup, NC_000013.11:g.75633856_75633866dup, NC_000013.11:g.75633855_75633866dup, NC_000013.11:g.75633854_75633866dup, NC_000013.10:g.76207987_76208002del, NC_000013.10:g.76207988_76208002del, NC_000013.10:g.76207989_76208002del, NC_000013.10:g.76207990_76208002del, NC_000013.10:g.76207991_76208002del, NC_000013.10:g.76207992_76208002del, NC_000013.10:g.76207993_76208002del, NC_000013.10:g.76207994_76208002del, NC_000013.10:g.76207995_76208002del, NC_000013.10:g.76207996_76208002del, NC_000013.10:g.76207997_76208002del, NC_000013.10:g.76207998_76208002del, NC_000013.10:g.76207999_76208002del, NC_000013.10:g.76208000_76208002del, NC_000013.10:g.76208001_76208002del, NC_000013.10:g.76208002del, NC_000013.10:g.76208002dup, NC_000013.10:g.76208001_76208002dup, NC_000013.10:g.76208000_76208002dup, NC_000013.10:g.76207999_76208002dup, NC_000013.10:g.76207998_76208002dup, NC_000013.10:g.76207997_76208002dup, NC_000013.10:g.76207996_76208002dup, NC_000013.10:g.76207995_76208002dup, NC_000013.10:g.76207993_76208002dup, NC_000013.10:g.76207992_76208002dup, NC_000013.10:g.76207991_76208002dup, NC_000013.10:g.76207990_76208002dup
5.
rs1491304757 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 13:75635028
(GRCh38)
13:76209164
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75635026:ACA:A
- Gene:
- LMO7 (Varview), LMO7-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000214/3
(
ALFA)
-=0.000144/20
(GnomAD)
-=0.000185/49
(TOPMED)
- HGVS:
6.
rs1491240035 has merged into rs10690832 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTT,TTTTTTT,TTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTT,TTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTGTTTTTTTTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:75632875
(GRCh38)
13:76207011
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:75632862:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LMO7 (Varview), LMO7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0./0
(GENOME_DK)
-=0.1855/929
(1000Genomes)
- HGVS:
NC_000013.11:g.75632875_75632878del, NC_000013.11:g.75632876_75632878del, NC_000013.11:g.75632877_75632878del, NC_000013.11:g.75632878del, NC_000013.11:g.75632878dup, NC_000013.11:g.75632863_75632878T[17]GTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.75632877_75632878dup, NC_000013.11:g.75632876_75632878dup, NC_000013.11:g.75632863_75632878T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.75632875_75632878dup, NC_000013.11:g.75632863_75632878T[20]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.75632874_75632878dup, NC_000013.11:g.75632873_75632878dup, NC_000013.11:g.75632863_75632878T[22]ATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.75632863_75632878T[22]GTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.75632872_75632878dup, NC_000013.11:g.75632871_75632878dup, NC_000013.11:g.75632870_75632878dup, NC_000013.11:g.75632863_75632878T[25]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.75632869_75632878dup, NC_000013.11:g.75632868_75632878dup, NC_000013.11:g.75632867_75632878dup, NC_000013.11:g.75632866_75632878dup, NC_000013.11:g.75632865_75632878dup, NC_000013.11:g.75632864_75632878dup, NC_000013.11:g.75632863_75632878dup, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632863_75632878T[47]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632863_75632878T[54]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.75632878_75632879insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207011_76207014del, NC_000013.10:g.76207012_76207014del, NC_000013.10:g.76207013_76207014del, NC_000013.10:g.76207014del, NC_000013.10:g.76207014dup, NC_000013.10:g.76206999_76207014T[17]GTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.76207013_76207014dup, NC_000013.10:g.76207012_76207014dup, NC_000013.10:g.76206999_76207014T[19]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.76207011_76207014dup, NC_000013.10:g.76206999_76207014T[20]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.76207010_76207014dup, NC_000013.10:g.76207009_76207014dup, NC_000013.10:g.76206999_76207014T[22]ATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.76206999_76207014T[22]GTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.76207008_76207014dup, NC_000013.10:g.76207007_76207014dup, NC_000013.10:g.76207006_76207014dup, NC_000013.10:g.76206999_76207014T[25]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.76207005_76207014dup, NC_000013.10:g.76207004_76207014dup, NC_000013.10:g.76207003_76207014dup, NC_000013.10:g.76207002_76207014dup, NC_000013.10:g.76207001_76207014dup, NC_000013.10:g.76207000_76207014dup, NC_000013.10:g.76206999_76207014dup, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76206999_76207014T[47]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76206999_76207014T[54]GTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.76207014_76207015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1491055741 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 13:75616434
(GRCh38)
13:76190570
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75616433:TC:
- Gene:
- LMO7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000422/5
(
ALFA)
-=0.000629/85
(GnomAD)
- HGVS:
9.
rs1490962716 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:75621574
(GRCh38)
13:76195710
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75621573:T:C
- Gene:
- LMO7 (Varview), LMO7-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
10.
rs1490931427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 13:75627837
(GRCh38)
13:76201973
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75627836:T:C,NC_000013.11:75627836:T:G
- Gene:
- LMO7 (Varview), LMO7-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490739446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:75629628
(GRCh38)
13:76203764
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75629627:T:C
- Gene:
- LMO7 (Varview), LMO7-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490733896 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:75630743
(GRCh38)
13:76204879
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75630742:T:G
- Gene:
- LMO7 (Varview), LMO7-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490700536 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:75612275
(GRCh38)
13:76186411
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75612274:T:C
- Gene:
- LMO7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490685539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:75613534
(GRCh38)
13:76187670
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75613533:A:G
- Gene:
- LMO7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490575602 has merged into rs1340146116 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAAA>-,ACAAAACAAA
[Show Flanks]
- Chromosome:
- 13:75630680
(GRCh38)
13:76204816
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75630666:AAAACAAAACAAAACAAA:AAAACAAAACAAA,NC_000013.11:75630666:AAAACAAAACAAAACAAA:AAAACAAAACAAAACAAAACAAA
- Gene:
- LMO7 (Varview), LMO7-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAACAAAACAAAACAAAACAAA=0./0
(
ALFA)
-=0.000071/10
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
16.
rs1490551839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 13:75636194
(GRCh38)
13:76210330
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75636193:C:G,NC_000013.11:75636193:C:T
- Gene:
- LMO7 (Varview), LMO7-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490255658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:75633005
(GRCh38)
13:76207141
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75633004:G:T
- Gene:
- LMO7 (Varview), LMO7-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000132/2
(
ALFA)
T=0.000022/3
(GnomAD)
T=0.000446/2
(Estonian)
- HGVS:
19.
rs1490208966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:75611673
(GRCh38)
13:76185809
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75611672:C:T
- Gene:
- LMO7-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490190116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:75627792
(GRCh38)
13:76201928
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75627791:A:G
- Gene:
- LMO7 (Varview), LMO7-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: