Links from Gene
Items: 1 to 20 of 1000
1.
rs1491589244 has merged into rs34484240 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:31854151
(GRCh38)
3:31895643
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31854140:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:31854140:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:31854140:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:31854140:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:31854140:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:31854140:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:31854140:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:31854140:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:31854140:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.3717/223
(NorthernSweden)
T=0.4952/2480
(1000Genomes)
- HGVS:
NC_000003.12:g.31854151_31854155del, NC_000003.12:g.31854153_31854155del, NC_000003.12:g.31854154_31854155del, NC_000003.12:g.31854155del, NC_000003.12:g.31854155dup, NC_000003.12:g.31854154_31854155dup, NC_000003.12:g.31854153_31854155dup, NC_000003.12:g.31854148_31854155dup, NC_000003.12:g.31854146_31854155dup, NC_000003.11:g.31895643_31895647del, NC_000003.11:g.31895645_31895647del, NC_000003.11:g.31895646_31895647del, NC_000003.11:g.31895647del, NC_000003.11:g.31895647dup, NC_000003.11:g.31895646_31895647dup, NC_000003.11:g.31895645_31895647dup, NC_000003.11:g.31895640_31895647dup, NC_000003.11:g.31895638_31895647dup
2.
rs1491588883 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:31916116
(GRCh38)
3:31957608
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31916114:AGA:A
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
3.
rs1491587649 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA
[Show Flanks]
- Chromosome:
- 3:31812778
(GRCh38)
3:31854270
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31812776:AGA:A,NC_000003.12:31812776:AGA:AGAGA
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00004/2
(GnomAD)
- HGVS:
4.
rs1491587075 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT
[Show Flanks]
- Chromosome:
- 3:31965460
(GRCh38)
3:32006952
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31965458:TTT:T,NC_000003.12:31965458:TTT:TTTT
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00193/22
(
ALFA)
-=0.00025/14
(GnomAD)
-=0.00076/7
(TOMMO)
- HGVS:
5.
rs1491585627 has merged into rs61157535 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:31799391
(GRCh38)
3:31840883
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31799379:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.31799391_31799406del, NC_000003.12:g.31799392_31799406del, NC_000003.12:g.31799393_31799406del, NC_000003.12:g.31799394_31799406del, NC_000003.12:g.31799395_31799406del, NC_000003.12:g.31799396_31799406del, NC_000003.12:g.31799397_31799406del, NC_000003.12:g.31799398_31799406del, NC_000003.12:g.31799399_31799406del, NC_000003.12:g.31799400_31799406del, NC_000003.12:g.31799401_31799406del, NC_000003.12:g.31799402_31799406del, NC_000003.12:g.31799403_31799406del, NC_000003.12:g.31799404_31799406del, NC_000003.12:g.31799405_31799406del, NC_000003.12:g.31799406del, NC_000003.12:g.31799406dup, NC_000003.12:g.31799405_31799406dup, NC_000003.12:g.31799404_31799406dup, NC_000003.12:g.31799403_31799406dup, NC_000003.12:g.31799402_31799406dup, NC_000003.12:g.31799401_31799406dup, NC_000003.12:g.31799400_31799406dup, NC_000003.12:g.31799399_31799406dup, NC_000003.11:g.31840883_31840898del, NC_000003.11:g.31840884_31840898del, NC_000003.11:g.31840885_31840898del, NC_000003.11:g.31840886_31840898del, NC_000003.11:g.31840887_31840898del, NC_000003.11:g.31840888_31840898del, NC_000003.11:g.31840889_31840898del, NC_000003.11:g.31840890_31840898del, NC_000003.11:g.31840891_31840898del, NC_000003.11:g.31840892_31840898del, NC_000003.11:g.31840893_31840898del, NC_000003.11:g.31840894_31840898del, NC_000003.11:g.31840895_31840898del, NC_000003.11:g.31840896_31840898del, NC_000003.11:g.31840897_31840898del, NC_000003.11:g.31840898del, NC_000003.11:g.31840898dup, NC_000003.11:g.31840897_31840898dup, NC_000003.11:g.31840896_31840898dup, NC_000003.11:g.31840895_31840898dup, NC_000003.11:g.31840894_31840898dup, NC_000003.11:g.31840893_31840898dup, NC_000003.11:g.31840892_31840898dup, NC_000003.11:g.31840891_31840898dup
6.
rs1491583434 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATA
[Show Flanks]
- Chromosome:
- 3:31965654
(GRCh38)
3:32007147
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31965654:ATATA:ATATAATATA
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATAATATA=0./0
(
ALFA)
ATATA=0.00015/10
(GnomAD)
- HGVS:
7.
rs1491575108 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 3:31961907
(GRCh38)
3:32003399
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31961906:GT:
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
9.
rs1491572896 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CTTTTTTTTTTTT,CTTTTTTTTTTTTT,CTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:31762629
(GRCh38)
3:31804122
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31762629::CTTTTTTTTTTTT,NC_000003.12:31762629::CTTTTTTTTTTTTT,NC_000003.12:31762629::CTTTTTTTTTTTTTT,NC_000003.12:31762629::CTTTTTTTTTTTTTTTT,NC_000003.12:31762629::CTTTTTTTTTTTTTTTTT,NC_000003.12:31762629::CTTTTTTTTTTTTTTTTTT,NC_000003.12:31762629::CTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:31762629::TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0.00006/1
(
ALFA)
TTTTTTTTTTTTTT=0.00019/3
(TOMMO)
TTTTTTTTTTTTTTTT=0.00055/1
(Korea1K)
- HGVS:
NC_000003.12:g.31762629_31762630insCTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insCTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insCTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insCTTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insCTTTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insCTTTTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insCTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.31762629_31762630insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insCTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insCTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insCTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insCTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insCTTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insCTTTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insCTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.31804121_31804122insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1491570459 has merged into rs71628589 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:31945160
(GRCh38)
3:31986652
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31945149:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000003.12:g.31945160_31945170del, NC_000003.12:g.31945161_31945170del, NC_000003.12:g.31945163_31945170del, NC_000003.12:g.31945166_31945170del, NC_000003.12:g.31945168_31945170del, NC_000003.12:g.31945169_31945170del, NC_000003.12:g.31945170del, NC_000003.12:g.31945170dup, NC_000003.12:g.31945169_31945170dup, NC_000003.12:g.31945168_31945170dup, NC_000003.12:g.31945167_31945170dup, NC_000003.12:g.31945166_31945170dup, NC_000003.12:g.31945165_31945170dup, NC_000003.12:g.31945163_31945170dup, NC_000003.11:g.31986652_31986662del, NC_000003.11:g.31986653_31986662del, NC_000003.11:g.31986655_31986662del, NC_000003.11:g.31986658_31986662del, NC_000003.11:g.31986660_31986662del, NC_000003.11:g.31986661_31986662del, NC_000003.11:g.31986662del, NC_000003.11:g.31986662dup, NC_000003.11:g.31986661_31986662dup, NC_000003.11:g.31986660_31986662dup, NC_000003.11:g.31986659_31986662dup, NC_000003.11:g.31986658_31986662dup, NC_000003.11:g.31986657_31986662dup, NC_000003.11:g.31986655_31986662dup
11.
rs1491558170 has merged into rs1201847350 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAA,AAAA
[Show Flanks]
- Chromosome:
- 3:31812788
(GRCh38)
3:31854280
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31812786:AAA:A,NC_000003.12:31812786:AAA:AAAA,NC_000003.12:31812786:AAA:AAAAA
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.00819/346
(GnomAD)
- HGVS:
12.
rs1491552929 has merged into rs1401680024 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:31788966
(GRCh38)
3:31830458
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31788961:TTTTTTTTTTT:TTTT,NC_000003.12:31788961:TTTTTTTTTTT:TTTTTTTTT,NC_000003.12:31788961:TTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:31788961:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:31788961:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
T=0.004841/24
(1000Genomes)
T=0.125/1
(KOREAN)
- HGVS:
14.
rs1491543314 has merged into rs397957994 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:31886003
(GRCh38)
3:31927495
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:31885995:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.31886003_31886014del, NC_000003.12:g.31886004_31886014del, NC_000003.12:g.31886005_31886014del, NC_000003.12:g.31886006_31886014del, NC_000003.12:g.31886008_31886014del, NC_000003.12:g.31886009_31886014del, NC_000003.12:g.31886010_31886014del, NC_000003.12:g.31886011_31886014del, NC_000003.12:g.31886012_31886014del, NC_000003.12:g.31886013_31886014del, NC_000003.12:g.31886014del, NC_000003.12:g.31886014dup, NC_000003.12:g.31886013_31886014dup, NC_000003.12:g.31886012_31886014dup, NC_000003.12:g.31886011_31886014dup, NC_000003.12:g.31886010_31886014dup, NC_000003.12:g.31886009_31886014dup, NC_000003.12:g.31886008_31886014dup, NC_000003.12:g.31886007_31886014dup, NC_000003.12:g.31886006_31886014dup, NC_000003.12:g.31886003_31886014dup, NC_000003.12:g.31886002_31886014dup, NC_000003.12:g.31886001_31886014dup, NC_000003.12:g.31885998_31886014dup, NC_000003.12:g.31885997_31886014dup, NC_000003.11:g.31927495_31927506del, NC_000003.11:g.31927496_31927506del, NC_000003.11:g.31927497_31927506del, NC_000003.11:g.31927498_31927506del, NC_000003.11:g.31927500_31927506del, NC_000003.11:g.31927501_31927506del, NC_000003.11:g.31927502_31927506del, NC_000003.11:g.31927503_31927506del, NC_000003.11:g.31927504_31927506del, NC_000003.11:g.31927505_31927506del, NC_000003.11:g.31927506del, NC_000003.11:g.31927506dup, NC_000003.11:g.31927505_31927506dup, NC_000003.11:g.31927504_31927506dup, NC_000003.11:g.31927503_31927506dup, NC_000003.11:g.31927502_31927506dup, NC_000003.11:g.31927501_31927506dup, NC_000003.11:g.31927500_31927506dup, NC_000003.11:g.31927499_31927506dup, NC_000003.11:g.31927498_31927506dup, NC_000003.11:g.31927495_31927506dup, NC_000003.11:g.31927494_31927506dup, NC_000003.11:g.31927493_31927506dup, NC_000003.11:g.31927490_31927506dup, NC_000003.11:g.31927489_31927506dup
15.
rs1491532117 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:31812722
(GRCh38)
3:31854214
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31812720:AGA:A
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00054/6
(GnomAD)
- HGVS:
16.
rs1491525365 has merged into rs5847722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:31872463
(GRCh38)
3:31913955
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31872452:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:31872452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:31872452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:31872452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:31872452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:31872452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:31872452:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.1388/83
(NorthernSweden)
-=0.3/12
(GENOME_DK)
- HGVS:
NC_000003.12:g.31872463_31872468del, NC_000003.12:g.31872466_31872468del, NC_000003.12:g.31872467_31872468del, NC_000003.12:g.31872468del, NC_000003.12:g.31872468dup, NC_000003.12:g.31872467_31872468dup, NC_000003.12:g.31872466_31872468dup, NC_000003.11:g.31913955_31913960del, NC_000003.11:g.31913958_31913960del, NC_000003.11:g.31913959_31913960del, NC_000003.11:g.31913960del, NC_000003.11:g.31913960dup, NC_000003.11:g.31913959_31913960dup, NC_000003.11:g.31913958_31913960dup
17.
rs1491525039 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:31965552
(GRCh38)
3:32007044
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31965546:TATATAT:TATAT
- Gene:
- OSBPL10 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATAT=0.0435/516
(
ALFA)
-=0.0362/16
(NorthernSweden)
-=0.04827/1850
(GnomAD)
-=0.05691/285
(1000Genomes)
-=0.13784/1417
(TOMMO)
- HGVS:
20.
rs1491518466 has merged into rs3840254 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC
[Show Flanks]
- Chromosome:
- 3:31705381
(GRCh38)
3:31746873
(GRCh37)
- Canonical SPDI:
- NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000003.12:31705372:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC
- Gene:
- OSBPL10 (Varview), OSBPL10-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCCCC=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.31705381_31705383del, NC_000003.12:g.31705382_31705383del, NC_000003.12:g.31705383del, NC_000003.12:g.31705383dup, NC_000003.12:g.31705382_31705383dup, NC_000003.12:g.31705381_31705383dup, NC_000003.12:g.31705378_31705383dup, NC_000003.12:g.31705377_31705383dup, NC_000003.12:g.31705376_31705383dup, NC_000003.12:g.31705375_31705383dup, NC_000003.12:g.31705374_31705383dup, NC_000003.12:g.31705373_31705383dup, NC_000003.12:g.31705383_31705384insCCCCCCCCCCCC, NC_000003.12:g.31705383_31705384insCCCCCCCCCCCCC, NC_000003.12:g.31705383_31705384insCCCCCCCCCCCCCC, NC_000003.12:g.31705383_31705384insCCCCCCCCCCCCCCC, NC_000003.12:g.31705383_31705384insCCCCCCCCCCCCCCCC, NC_000003.12:g.31705383_31705384insCCCCCCCCCCCCCCCCC, NC_000003.11:g.31746873_31746875del, NC_000003.11:g.31746874_31746875del, NC_000003.11:g.31746875del, NC_000003.11:g.31746875dup, NC_000003.11:g.31746874_31746875dup, NC_000003.11:g.31746873_31746875dup, NC_000003.11:g.31746870_31746875dup, NC_000003.11:g.31746869_31746875dup, NC_000003.11:g.31746868_31746875dup, NC_000003.11:g.31746867_31746875dup, NC_000003.11:g.31746866_31746875dup, NC_000003.11:g.31746865_31746875dup, NC_000003.11:g.31746875_31746876insCCCCCCCCCCCC, NC_000003.11:g.31746875_31746876insCCCCCCCCCCCCC, NC_000003.11:g.31746875_31746876insCCCCCCCCCCCCCC, NC_000003.11:g.31746875_31746876insCCCCCCCCCCCCCCC, NC_000003.11:g.31746875_31746876insCCCCCCCCCCCCCCCC, NC_000003.11:g.31746875_31746876insCCCCCCCCCCCCCCCCC