Links from Gene
Items: 1 to 20 of 16518
1.
rs1491589386 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:194710894
(GRCh38)
3:194431624
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194710894:T:TT
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
2.
rs1491550847 has merged into rs34303499 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCT>-,CTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 3:194779072
(GRCh38)
3:194499801
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194779060:TCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000003.12:194779060:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000003.12:194779060:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000003.12:194779060:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000003.12:194779060:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCT=0./0
(
ALFA)
-=0.01195/26
(1000Genomes)
TC=0.225/9
(GENOME_DK)
TC=0.2996/299
(GoNL)
-=0.31271/5241
(TOMMO)
-=0.32205/590
(Korea1K)
-=0.35377/75
(Vietnamese)
TC=0.39/234
(NorthernSweden)
- HGVS:
3.
rs1491540812 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:194723259
(GRCh38)
3:194443989
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194723259::T
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00004/1
(TOMMO)
T=0.00322/144
(GnomAD)
- HGVS:
4.
rs1491524404 has merged into rs869062937 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 3:194728632
(GRCh38)
3:194449361
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.194728614GT[9], NC_000003.12:g.194728614GT[11], NC_000003.12:g.194728614GT[12], NC_000003.12:g.194728614GT[13], NC_000003.12:g.194728614GT[14], NC_000003.12:g.194728614GT[15], NC_000003.12:g.194728614GT[16], NC_000003.12:g.194728614GT[17], NC_000003.12:g.194728614GT[18], NC_000003.12:g.194728614GT[19], NC_000003.12:g.194728614GT[21], NC_000003.12:g.194728614GT[22], NC_000003.12:g.194728614GT[23], NC_000003.12:g.194728614GT[24], NC_000003.12:g.194728614GT[25], NC_000003.12:g.194728614GT[26], NC_000003.12:g.194728614GT[27], NC_000003.12:g.194728614GT[29], NC_000003.12:g.194728614GT[31], NC_000003.12:g.194728614GT[34], NC_000003.11:g.194449343GT[9], NC_000003.11:g.194449343GT[11], NC_000003.11:g.194449343GT[12], NC_000003.11:g.194449343GT[13], NC_000003.11:g.194449343GT[14], NC_000003.11:g.194449343GT[15], NC_000003.11:g.194449343GT[16], NC_000003.11:g.194449343GT[17], NC_000003.11:g.194449343GT[18], NC_000003.11:g.194449343GT[19], NC_000003.11:g.194449343GT[21], NC_000003.11:g.194449343GT[22], NC_000003.11:g.194449343GT[23], NC_000003.11:g.194449343GT[24], NC_000003.11:g.194449343GT[25], NC_000003.11:g.194449343GT[26], NC_000003.11:g.194449343GT[27], NC_000003.11:g.194449343GT[29], NC_000003.11:g.194449343GT[31], NC_000003.11:g.194449343GT[34]
5.
rs1491430742 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 3:194710897
(GRCh38)
3:194431626
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194710893:GTGTG:GTG
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
6.
rs1491355265 has merged into rs57922704 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:194707598
(GRCh38)
3:194428327
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:194707590:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0./0
(GENOME_DK)
-=0.000015/4
(TOPMED)
- HGVS:
NC_000003.12:g.194707598_194707606del, NC_000003.12:g.194707599_194707606del, NC_000003.12:g.194707600_194707606del, NC_000003.12:g.194707601_194707606del, NC_000003.12:g.194707602_194707606del, NC_000003.12:g.194707603_194707606del, NC_000003.12:g.194707604_194707606del, NC_000003.12:g.194707605_194707606del, NC_000003.12:g.194707606del, NC_000003.12:g.194707606dup, NC_000003.12:g.194707605_194707606dup, NC_000003.12:g.194707604_194707606dup, NC_000003.12:g.194707603_194707606dup, NC_000003.12:g.194707602_194707606dup, NC_000003.12:g.194707601_194707606dup, NC_000003.12:g.194707600_194707606dup, NC_000003.12:g.194707599_194707606dup, NC_000003.12:g.194707598_194707606dup, NC_000003.12:g.194707597_194707606dup, NC_000003.12:g.194707596_194707606dup, NC_000003.12:g.194707595_194707606dup, NC_000003.12:g.194707594_194707606dup, NC_000003.12:g.194707593_194707606dup, NC_000003.12:g.194707592_194707606dup, NC_000003.12:g.194707591_194707606dup, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.194707606_194707607insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428327_194428335del, NC_000003.11:g.194428328_194428335del, NC_000003.11:g.194428329_194428335del, NC_000003.11:g.194428330_194428335del, NC_000003.11:g.194428331_194428335del, NC_000003.11:g.194428332_194428335del, NC_000003.11:g.194428333_194428335del, NC_000003.11:g.194428334_194428335del, NC_000003.11:g.194428335del, NC_000003.11:g.194428335dup, NC_000003.11:g.194428334_194428335dup, NC_000003.11:g.194428333_194428335dup, NC_000003.11:g.194428332_194428335dup, NC_000003.11:g.194428331_194428335dup, NC_000003.11:g.194428330_194428335dup, NC_000003.11:g.194428329_194428335dup, NC_000003.11:g.194428328_194428335dup, NC_000003.11:g.194428327_194428335dup, NC_000003.11:g.194428326_194428335dup, NC_000003.11:g.194428325_194428335dup, NC_000003.11:g.194428324_194428335dup, NC_000003.11:g.194428323_194428335dup, NC_000003.11:g.194428322_194428335dup, NC_000003.11:g.194428321_194428335dup, NC_000003.11:g.194428320_194428335dup, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.194428335_194428336insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491353895 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:194707548
(GRCh38)
3:194428278
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194707548::A
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1491332793 has merged into rs869062937 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 3:194728632
(GRCh38)
3:194449361
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.194728614GT[9], NC_000003.12:g.194728614GT[11], NC_000003.12:g.194728614GT[12], NC_000003.12:g.194728614GT[13], NC_000003.12:g.194728614GT[14], NC_000003.12:g.194728614GT[15], NC_000003.12:g.194728614GT[16], NC_000003.12:g.194728614GT[17], NC_000003.12:g.194728614GT[18], NC_000003.12:g.194728614GT[19], NC_000003.12:g.194728614GT[21], NC_000003.12:g.194728614GT[22], NC_000003.12:g.194728614GT[23], NC_000003.12:g.194728614GT[24], NC_000003.12:g.194728614GT[25], NC_000003.12:g.194728614GT[26], NC_000003.12:g.194728614GT[27], NC_000003.12:g.194728614GT[29], NC_000003.12:g.194728614GT[31], NC_000003.12:g.194728614GT[34], NC_000003.11:g.194449343GT[9], NC_000003.11:g.194449343GT[11], NC_000003.11:g.194449343GT[12], NC_000003.11:g.194449343GT[13], NC_000003.11:g.194449343GT[14], NC_000003.11:g.194449343GT[15], NC_000003.11:g.194449343GT[16], NC_000003.11:g.194449343GT[17], NC_000003.11:g.194449343GT[18], NC_000003.11:g.194449343GT[19], NC_000003.11:g.194449343GT[21], NC_000003.11:g.194449343GT[22], NC_000003.11:g.194449343GT[23], NC_000003.11:g.194449343GT[24], NC_000003.11:g.194449343GT[25], NC_000003.11:g.194449343GT[26], NC_000003.11:g.194449343GT[27], NC_000003.11:g.194449343GT[29], NC_000003.11:g.194449343GT[31], NC_000003.11:g.194449343GT[34]
9.
rs1491274354 has merged into rs58726372 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTG>-,TGTG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 3:194718770
(GRCh38)
3:194439499
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194718755:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.194718756TG[7], NC_000003.12:g.194718756TG[9], NC_000003.12:g.194718756TG[10], NC_000003.12:g.194718756TG[12], NC_000003.12:g.194718756TG[13], NC_000003.12:g.194718756TG[14], NC_000003.12:g.194718756TG[15], NC_000003.12:g.194718756TG[16], NC_000003.12:g.194718756TG[18], NC_000003.12:g.194718756TG[19], NC_000003.12:g.194718756TG[20], NC_000003.12:g.194718756TG[21], NC_000003.12:g.194718756TG[22], NC_000003.12:g.194718756TG[23], NC_000003.12:g.194718756TG[24], NC_000003.12:g.194718756TG[25], NC_000003.12:g.194718756TG[26], NC_000003.11:g.194439485TG[7], NC_000003.11:g.194439485TG[9], NC_000003.11:g.194439485TG[10], NC_000003.11:g.194439485TG[12], NC_000003.11:g.194439485TG[13], NC_000003.11:g.194439485TG[14], NC_000003.11:g.194439485TG[15], NC_000003.11:g.194439485TG[16], NC_000003.11:g.194439485TG[18], NC_000003.11:g.194439485TG[19], NC_000003.11:g.194439485TG[20], NC_000003.11:g.194439485TG[21], NC_000003.11:g.194439485TG[22], NC_000003.11:g.194439485TG[23], NC_000003.11:g.194439485TG[24], NC_000003.11:g.194439485TG[25], NC_000003.11:g.194439485TG[26]
11.
rs1491249384 has merged into rs138085850 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:194723782
(GRCh38)
3:194444511
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:194723776:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.4173/2090
(1000Genomes)
- HGVS:
NC_000003.12:g.194723782_194723798del, NC_000003.12:g.194723785_194723798del, NC_000003.12:g.194723787_194723798del, NC_000003.12:g.194723788_194723798del, NC_000003.12:g.194723789_194723798del, NC_000003.12:g.194723792_194723798del, NC_000003.12:g.194723793_194723798del, NC_000003.12:g.194723794_194723798del, NC_000003.12:g.194723795_194723798del, NC_000003.12:g.194723796_194723798del, NC_000003.12:g.194723797_194723798del, NC_000003.12:g.194723798del, NC_000003.12:g.194723798dup, NC_000003.12:g.194723797_194723798dup, NC_000003.12:g.194723795_194723798dup, NC_000003.12:g.194723792_194723798dup, NC_000003.12:g.194723786_194723798dup, NC_000003.11:g.194444511_194444527del, NC_000003.11:g.194444514_194444527del, NC_000003.11:g.194444516_194444527del, NC_000003.11:g.194444517_194444527del, NC_000003.11:g.194444518_194444527del, NC_000003.11:g.194444521_194444527del, NC_000003.11:g.194444522_194444527del, NC_000003.11:g.194444523_194444527del, NC_000003.11:g.194444524_194444527del, NC_000003.11:g.194444525_194444527del, NC_000003.11:g.194444526_194444527del, NC_000003.11:g.194444527del, NC_000003.11:g.194444527dup, NC_000003.11:g.194444526_194444527dup, NC_000003.11:g.194444524_194444527dup, NC_000003.11:g.194444521_194444527dup, NC_000003.11:g.194444515_194444527dup
12.
rs1491243611 has merged into rs869062937 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 3:194728632
(GRCh38)
3:194449361
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:194728613:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.194728614GT[9], NC_000003.12:g.194728614GT[11], NC_000003.12:g.194728614GT[12], NC_000003.12:g.194728614GT[13], NC_000003.12:g.194728614GT[14], NC_000003.12:g.194728614GT[15], NC_000003.12:g.194728614GT[16], NC_000003.12:g.194728614GT[17], NC_000003.12:g.194728614GT[18], NC_000003.12:g.194728614GT[19], NC_000003.12:g.194728614GT[21], NC_000003.12:g.194728614GT[22], NC_000003.12:g.194728614GT[23], NC_000003.12:g.194728614GT[24], NC_000003.12:g.194728614GT[25], NC_000003.12:g.194728614GT[26], NC_000003.12:g.194728614GT[27], NC_000003.12:g.194728614GT[29], NC_000003.12:g.194728614GT[31], NC_000003.12:g.194728614GT[34], NC_000003.11:g.194449343GT[9], NC_000003.11:g.194449343GT[11], NC_000003.11:g.194449343GT[12], NC_000003.11:g.194449343GT[13], NC_000003.11:g.194449343GT[14], NC_000003.11:g.194449343GT[15], NC_000003.11:g.194449343GT[16], NC_000003.11:g.194449343GT[17], NC_000003.11:g.194449343GT[18], NC_000003.11:g.194449343GT[19], NC_000003.11:g.194449343GT[21], NC_000003.11:g.194449343GT[22], NC_000003.11:g.194449343GT[23], NC_000003.11:g.194449343GT[24], NC_000003.11:g.194449343GT[25], NC_000003.11:g.194449343GT[26], NC_000003.11:g.194449343GT[27], NC_000003.11:g.194449343GT[29], NC_000003.11:g.194449343GT[31], NC_000003.11:g.194449343GT[34]
13.
rs1491215864 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 3:194728613
(GRCh38)
3:194449342
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194728612:AG:
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00017/2
(
ALFA)
-=0.00016/8
(GnomAD)
- HGVS:
15.
rs1491086497 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T,TGT,TGTGTGT,TT
[Show Flanks]
- Chromosome:
- 3:194728611
(GRCh38)
3:194449341
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194728611:T:TT,NC_000003.12:194728611:T:TTGT,NC_000003.12:194728611:T:TTGTGTGT,NC_000003.12:194728611:T:TTT
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0.00333/54
(
ALFA)
TT=0.00018/3
(TOMMO)
TT=0.00055/1
(Korea1K)
TT=0.00906/58
(1000Genomes)
- HGVS:
16.
rs1491040652 has merged into rs1553851024 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 3:194723276
(GRCh38)
3:194444005
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194723260:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000003.12:194723260:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000003.12:194723260:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000003.12:194723260:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194723260:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194723260:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194723260:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194723260:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:194723260:GTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTG=0./0
(
ALFA)
GTGTGTGTGTGT=0.000026/7
(TOPMED)
GT=0.026667/16
(NorthernSweden)
- HGVS:
NC_000003.12:g.194723262TG[7], NC_000003.12:g.194723262TG[8], NC_000003.12:g.194723262TG[9], NC_000003.12:g.194723262TG[11], NC_000003.12:g.194723262TG[12], NC_000003.12:g.194723262TG[13], NC_000003.12:g.194723262TG[14], NC_000003.12:g.194723262TG[15], NC_000003.12:g.194723262TG[16], NC_000003.11:g.194443991TG[7], NC_000003.11:g.194443991TG[8], NC_000003.11:g.194443991TG[9], NC_000003.11:g.194443991TG[11], NC_000003.11:g.194443991TG[12], NC_000003.11:g.194443991TG[13], NC_000003.11:g.194443991TG[14], NC_000003.11:g.194443991TG[15], NC_000003.11:g.194443991TG[16]
17.
rs1490853587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:194742873
(GRCh38)
3:194463602
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194742872:C:A,NC_000003.12:194742872:C:T
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490844961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:194760458
(GRCh38)
3:194481187
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194760457:C:A,NC_000003.12:194760457:C:T
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
19.
rs1490819531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:194751765
(GRCh38)
3:194472494
(GRCh37)
- Canonical SPDI:
- NC_000003.12:194751764:T:G
- Gene:
- LINC01968 (Varview), LOC105374292 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: