Links from Gene
Items: 1 to 20 of 1000
2.
rs1491577697 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:66730333
(GRCh38)
7:66195321
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66730333:GGGG:GGGGG
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
3.
rs1491552286 has merged into rs10554809 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:66739668
(GRCh38)
7:66204655
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:66739657:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAA=0.4924/2466
(1000Genomes)
- HGVS:
NC_000007.14:g.66739668_66739683del, NC_000007.14:g.66739669_66739683del, NC_000007.14:g.66739671_66739683del, NC_000007.14:g.66739672_66739683del, NC_000007.14:g.66739673_66739683del, NC_000007.14:g.66739674_66739683del, NC_000007.14:g.66739675_66739683del, NC_000007.14:g.66739676_66739683del, NC_000007.14:g.66739677_66739683del, NC_000007.14:g.66739678_66739683del, NC_000007.14:g.66739679_66739683del, NC_000007.14:g.66739680_66739683del, NC_000007.14:g.66739681_66739683del, NC_000007.14:g.66739682_66739683del, NC_000007.14:g.66739683del, NC_000007.14:g.66739683dup, NC_000007.14:g.66739682_66739683dup, NC_000007.14:g.66739681_66739683dup, NC_000007.14:g.66739680_66739683dup, NC_000007.13:g.66204655_66204670del, NC_000007.13:g.66204656_66204670del, NC_000007.13:g.66204658_66204670del, NC_000007.13:g.66204659_66204670del, NC_000007.13:g.66204660_66204670del, NC_000007.13:g.66204661_66204670del, NC_000007.13:g.66204662_66204670del, NC_000007.13:g.66204663_66204670del, NC_000007.13:g.66204664_66204670del, NC_000007.13:g.66204665_66204670del, NC_000007.13:g.66204666_66204670del, NC_000007.13:g.66204667_66204670del, NC_000007.13:g.66204668_66204670del, NC_000007.13:g.66204669_66204670del, NC_000007.13:g.66204670del, NC_000007.13:g.66204670dup, NC_000007.13:g.66204669_66204670dup, NC_000007.13:g.66204668_66204670dup, NC_000007.13:g.66204667_66204670dup
4.
rs1491543468 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:66767001
(GRCh38)
7:66231989
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66767001::C
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000027/1
(GnomAD)
- HGVS:
6.
rs1491534115 has merged into rs34123866 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:66767010
(GRCh38)
7:66231997
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66767000:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
T=0.4359/2183
(1000Genomes)
- HGVS:
NC_000007.14:g.66767010_66767020del, NC_000007.14:g.66767011_66767020del, NC_000007.14:g.66767012_66767020del, NC_000007.14:g.66767013_66767020del, NC_000007.14:g.66767014_66767020del, NC_000007.14:g.66767016_66767020del, NC_000007.14:g.66767017_66767020del, NC_000007.14:g.66767018_66767020del, NC_000007.14:g.66767019_66767020del, NC_000007.14:g.66767020del, NC_000007.14:g.66767020dup, NC_000007.14:g.66767019_66767020dup, NC_000007.14:g.66767018_66767020dup, NC_000007.14:g.66767017_66767020dup, NC_000007.14:g.66767016_66767020dup, NC_000007.14:g.66767015_66767020dup, NC_000007.14:g.66767014_66767020dup, NC_000007.14:g.66767013_66767020dup, NC_000007.14:g.66767003_66767020dup, NC_000007.13:g.66231997_66232007del, NC_000007.13:g.66231998_66232007del, NC_000007.13:g.66231999_66232007del, NC_000007.13:g.66232000_66232007del, NC_000007.13:g.66232001_66232007del, NC_000007.13:g.66232003_66232007del, NC_000007.13:g.66232004_66232007del, NC_000007.13:g.66232005_66232007del, NC_000007.13:g.66232006_66232007del, NC_000007.13:g.66232007del, NC_000007.13:g.66232007dup, NC_000007.13:g.66232006_66232007dup, NC_000007.13:g.66232005_66232007dup, NC_000007.13:g.66232004_66232007dup, NC_000007.13:g.66232003_66232007dup, NC_000007.13:g.66232002_66232007dup, NC_000007.13:g.66232001_66232007dup, NC_000007.13:g.66232000_66232007dup, NC_000007.13:g.66231990_66232007dup
7.
rs1491498130 has merged into rs67647811 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:66687490
(GRCh38)
7:66152477
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAA,NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:66687483:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.425/17
(GENOME_DK)
AA=0.4581/2294
(1000Genomes)
- HGVS:
NC_000007.14:g.66687490_66687499del, NC_000007.14:g.66687491_66687499del, NC_000007.14:g.66687492_66687499del, NC_000007.14:g.66687493_66687499del, NC_000007.14:g.66687495_66687499del, NC_000007.14:g.66687496_66687499del, NC_000007.14:g.66687497_66687499del, NC_000007.14:g.66687498_66687499del, NC_000007.14:g.66687499del, NC_000007.14:g.66687499dup, NC_000007.14:g.66687498_66687499dup, NC_000007.14:g.66687487_66687499dup, NC_000007.13:g.66152477_66152486del, NC_000007.13:g.66152478_66152486del, NC_000007.13:g.66152479_66152486del, NC_000007.13:g.66152480_66152486del, NC_000007.13:g.66152482_66152486del, NC_000007.13:g.66152483_66152486del, NC_000007.13:g.66152484_66152486del, NC_000007.13:g.66152485_66152486del, NC_000007.13:g.66152486del, NC_000007.13:g.66152486dup, NC_000007.13:g.66152485_66152486dup, NC_000007.13:g.66152474_66152486dup
8.
rs1491498125 has merged into rs72236148 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 7:66695975
(GRCh38)
7:66160962
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66695963:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:66695963:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:66695963:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:66695963:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.35/14
(GENOME_DK)
-=0.4185/1613
(ALSPAC)
-=0.4235/2121
(1000Genomes)
-=0.4299/1594
(TWINSUK)
-=0.4339/433
(GoNL)
-=0.4444/264
(NorthernSweden)
- HGVS:
9.
rs1491493257 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 7:66753701
(GRCh38)
7:66218689
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66753701::GT
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GT=0./0
(
ALFA)
GT=0.00005/4
(GnomAD)
- HGVS:
10.
rs1491487824 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTTT
[Show Flanks]
- Chromosome:
- 7:66702347
(GRCh38)
7:66167334
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66702345:TTT:T,NC_000007.14:66702345:TTT:TTTTT
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000009/1
(GnomAD)
-=0.000142/2
(TOMMO)
- HGVS:
11.
rs1491484488 has merged into rs1174835014 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTCTTTTTTTTGTTTAAAAAATTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTATTGTTTAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTATTTTTAAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTATTTTTTAAAAAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTTTTTGTTAAAAAAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGTTAAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGTTAAAAAATTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTGTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:66794221
(GRCh38)
7:66259208
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTGTTTAAAAAATTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTATTGTTTAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTATTTTTAAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTATTTTTTAAAAAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTGTTAAAAAAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTAAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTAAAAAATTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:66794207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.66794221_66794232del, NC_000007.14:g.66794223_66794232del, NC_000007.14:g.66794224_66794232del, NC_000007.14:g.66794225_66794232del, NC_000007.14:g.66794226_66794232del, NC_000007.14:g.66794227_66794232del, NC_000007.14:g.66794228_66794232del, NC_000007.14:g.66794229_66794232del, NC_000007.14:g.66794230_66794232del, NC_000007.14:g.66794231_66794232del, NC_000007.14:g.66794232del, NC_000007.14:g.66794208_66794232T[25]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794208_66794232T[25]CTTTTTTTTGTTTAAAAAATTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794208_66794232T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794232dup, NC_000007.14:g.66794208_66794232T[26]CTTTTTATTGTTTAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794208_66794232T[26]CTTTTTATTTTTAAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794208_66794232T[26]CTTTTTATTTTTTAAAAAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794208_66794232T[26]CTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794208_66794232T[26]CTTTTTTTTTGTTAAAAAAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794208_66794232T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794231_66794232dup, NC_000007.14:g.66794230_66794232dup, NC_000007.14:g.66794229_66794232dup, NC_000007.14:g.66794228_66794232dup, NC_000007.14:g.66794227_66794232dup, NC_000007.14:g.66794226_66794232dup, NC_000007.14:g.66794208_66794232T[32]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794225_66794232dup, NC_000007.14:g.66794224_66794232dup, NC_000007.14:g.66794223_66794232dup, NC_000007.14:g.66794208_66794232T[35]GTTAAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794208_66794232T[35]GTTAAAAAATTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794208_66794232T[35]GTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794222_66794232dup, NC_000007.14:g.66794221_66794232dup, NC_000007.14:g.66794220_66794232dup, NC_000007.14:g.66794208_66794232T[38]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.66794219_66794232dup, NC_000007.14:g.66794218_66794232dup, NC_000007.14:g.66794217_66794232dup, NC_000007.14:g.66794216_66794232dup, NC_000007.13:g.66259208_66259219del, NC_000007.13:g.66259210_66259219del, NC_000007.13:g.66259211_66259219del, NC_000007.13:g.66259212_66259219del, NC_000007.13:g.66259213_66259219del, NC_000007.13:g.66259214_66259219del, NC_000007.13:g.66259215_66259219del, NC_000007.13:g.66259216_66259219del, NC_000007.13:g.66259217_66259219del, NC_000007.13:g.66259218_66259219del, NC_000007.13:g.66259219del, NC_000007.13:g.66259195_66259219T[25]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259195_66259219T[25]CTTTTTTTTGTTTAAAAAATTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259195_66259219T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259219dup, NC_000007.13:g.66259195_66259219T[26]CTTTTTATTGTTTAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259195_66259219T[26]CTTTTTATTTTTAAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259195_66259219T[26]CTTTTTATTTTTTAAAAAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259195_66259219T[26]CTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259195_66259219T[26]CTTTTTTTTTGTTAAAAAAATTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259195_66259219T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259218_66259219dup, NC_000007.13:g.66259217_66259219dup, NC_000007.13:g.66259216_66259219dup, NC_000007.13:g.66259215_66259219dup, NC_000007.13:g.66259214_66259219dup, NC_000007.13:g.66259213_66259219dup, NC_000007.13:g.66259195_66259219T[32]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259212_66259219dup, NC_000007.13:g.66259211_66259219dup, NC_000007.13:g.66259210_66259219dup, NC_000007.13:g.66259195_66259219T[35]GTTAAAAAAATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259195_66259219T[35]GTTAAAAAATTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259195_66259219T[35]GTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259209_66259219dup, NC_000007.13:g.66259208_66259219dup, NC_000007.13:g.66259207_66259219dup, NC_000007.13:g.66259195_66259219T[38]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.66259206_66259219dup, NC_000007.13:g.66259205_66259219dup, NC_000007.13:g.66259204_66259219dup, NC_000007.13:g.66259203_66259219dup
12.
rs1491482378 has merged into rs58442880 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:66720202
(GRCh38)
7:66185189
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:66720194:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.66720202_66720209del, NC_000007.14:g.66720203_66720209del, NC_000007.14:g.66720204_66720209del, NC_000007.14:g.66720205_66720209del, NC_000007.14:g.66720206_66720209del, NC_000007.14:g.66720207_66720209del, NC_000007.14:g.66720208_66720209del, NC_000007.14:g.66720209del, NC_000007.14:g.66720209dup, NC_000007.14:g.66720208_66720209dup, NC_000007.14:g.66720207_66720209dup, NC_000007.14:g.66720206_66720209dup, NC_000007.14:g.66720205_66720209dup, NC_000007.14:g.66720204_66720209dup, NC_000007.13:g.66185189_66185196del, NC_000007.13:g.66185190_66185196del, NC_000007.13:g.66185191_66185196del, NC_000007.13:g.66185192_66185196del, NC_000007.13:g.66185193_66185196del, NC_000007.13:g.66185194_66185196del, NC_000007.13:g.66185195_66185196del, NC_000007.13:g.66185196del, NC_000007.13:g.66185196dup, NC_000007.13:g.66185195_66185196dup, NC_000007.13:g.66185194_66185196dup, NC_000007.13:g.66185193_66185196dup, NC_000007.13:g.66185192_66185196dup, NC_000007.13:g.66185191_66185196dup
14.
rs1491424500 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 7:66688085
(GRCh38)
7:66153072
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66688084:CA:
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00464/55
(
ALFA)
-=0.00055/15
(TOMMO)
- HGVS:
15.
rs1491421553 has merged into rs1491098828 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 7:66773083
(GRCh38)
7:66238070
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66773081:TGT:T
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.040887/485
(
ALFA)
-=0.042517/25
(NorthernSweden)
-=0.045128/289
(1000Genomes)
-=0.054598/6350
(GnomAD)
-=0.1082/190
(Korea1K)
-=0.142756/2086
(TOMMO)
- HGVS:
16.
rs1491388054 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:66702346
(GRCh38)
7:66167334
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66702346::G
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000168/20
(GnomAD)
G=0.00929/17
(Korea1K)
G=0.012457/208
(TOMMO)
- HGVS:
17.
rs1491319288 has merged into rs1168180146 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 7:66737444
(GRCh38)
7:66202431
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66737443:GGGGGGGG:GGGGGGG,NC_000007.14:66737443:GGGGGGGG:GGGGGGGGG
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGG=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00055/1
(Korea1K)
- HGVS:
18.
rs1491312042 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:66796250
(GRCh38)
7:66261237
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66796247:AGAG:AG
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
19.
rs1491290686 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 7:66785879
(GRCh38)
7:66250867
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66785879::GA
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GA=0./0
(
ALFA)
GA=0.000004/1
(TOPMED)
GA=0.000016/2
(GnomAD)
- HGVS:
20.
rs1491289139 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:66705442
(GRCh38)
7:66170430
(GRCh37)
- Canonical SPDI:
- NC_000007.14:66705442::G
- Gene:
- RABGEF1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0018/133
(GnomAD)
- HGVS: