Links from Gene
Items: 1 to 20 of 9244
1.
rs1491553513 has merged into rs904601705 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 21:34747775
(GRCh38)
21:36120072
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34747760:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:34747760:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:34747760:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:34747760:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:34747760:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:34747760:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:34747760:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34747760:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34747760:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34747760:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.05085/30
(NorthernSweden)
- HGVS:
NC_000021.9:g.34747775_34747777del, NC_000021.9:g.34747776_34747777del, NC_000021.9:g.34747777del, NC_000021.9:g.34747777dup, NC_000021.9:g.34747776_34747777dup, NC_000021.9:g.34747775_34747777dup, NC_000021.9:g.34747774_34747777dup, NC_000021.9:g.34747773_34747777dup, NC_000021.9:g.34747772_34747777dup, NC_000021.9:g.34747771_34747777dup, NC_000021.8:g.36120072_36120074del, NC_000021.8:g.36120073_36120074del, NC_000021.8:g.36120074del, NC_000021.8:g.36120074dup, NC_000021.8:g.36120073_36120074dup, NC_000021.8:g.36120072_36120074dup, NC_000021.8:g.36120071_36120074dup, NC_000021.8:g.36120070_36120074dup, NC_000021.8:g.36120069_36120074dup, NC_000021.8:g.36120068_36120074dup
3.
rs1491457337 has merged into rs3989175 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 21:34748580
(GRCh38)
21:36120877
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000021.9:34748557:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000021.9:g.34748558TG[11], NC_000021.9:g.34748558TG[12], NC_000021.9:g.34748558TG[13], NC_000021.9:g.34748558TG[14], NC_000021.9:g.34748558TG[15], NC_000021.9:g.34748558TG[16], NC_000021.9:g.34748558TG[17], NC_000021.9:g.34748558TG[18], NC_000021.9:g.34748558TG[19], NC_000021.9:g.34748558TG[20], NC_000021.9:g.34748558TG[22], NC_000021.9:g.34748558TG[23], NC_000021.9:g.34748558TG[24], NC_000021.9:g.34748558TG[25], NC_000021.9:g.34748558TG[26], NC_000021.9:g.34748558TG[27], NC_000021.9:g.34748558TG[28], NC_000021.9:g.34748558TG[29], NC_000021.9:g.34748558TG[30], NC_000021.9:g.34748558TG[31], NC_000021.9:g.34748558TG[32], NC_000021.9:g.34748558TG[33], NC_000021.9:g.34748558TG[34], NC_000021.9:g.34748558TG[35], NC_000021.8:g.36120855TG[11], NC_000021.8:g.36120855TG[12], NC_000021.8:g.36120855TG[13], NC_000021.8:g.36120855TG[14], NC_000021.8:g.36120855TG[15], NC_000021.8:g.36120855TG[16], NC_000021.8:g.36120855TG[17], NC_000021.8:g.36120855TG[18], NC_000021.8:g.36120855TG[19], NC_000021.8:g.36120855TG[20], NC_000021.8:g.36120855TG[22], NC_000021.8:g.36120855TG[23], NC_000021.8:g.36120855TG[24], NC_000021.8:g.36120855TG[25], NC_000021.8:g.36120855TG[26], NC_000021.8:g.36120855TG[27], NC_000021.8:g.36120855TG[28], NC_000021.8:g.36120855TG[29], NC_000021.8:g.36120855TG[30], NC_000021.8:g.36120855TG[31], NC_000021.8:g.36120855TG[32], NC_000021.8:g.36120855TG[33], NC_000021.8:g.36120855TG[34], NC_000021.8:g.36120855TG[35]
4.
rs1491418659 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 21:34767335
(GRCh38)
21:36139633
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34767335:T:TCT
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCT=0./0
(
ALFA)
TC=0.00003/1
(GnomAD)
- HGVS:
5.
rs1491376964 has merged into rs796119778 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 21:34767346
(GRCh38)
21:36139643
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34767334:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:34767334:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:34767334:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:34767334:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:34767334:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:34767334:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:34767334:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:34767334:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.375/15
(GENOME_DK)
T=0.3844/1925
(1000Genomes)
- HGVS:
NC_000021.9:g.34767346_34767350del, NC_000021.9:g.34767347_34767350del, NC_000021.9:g.34767348_34767350del, NC_000021.9:g.34767349_34767350del, NC_000021.9:g.34767350del, NC_000021.9:g.34767350dup, NC_000021.9:g.34767349_34767350dup, NC_000021.9:g.34767348_34767350dup, NC_000021.8:g.36139643_36139647del, NC_000021.8:g.36139644_36139647del, NC_000021.8:g.36139645_36139647del, NC_000021.8:g.36139646_36139647del, NC_000021.8:g.36139647del, NC_000021.8:g.36139647dup, NC_000021.8:g.36139646_36139647dup, NC_000021.8:g.36139645_36139647dup
6.
rs1491227412 has merged into rs60020816 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 21:34773339
(GRCh38)
21:36145636
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34773325:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000021.9:34773325:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000021.9:34773325:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000021.9:34773325:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000021.9:34773325:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000021.9:34773325:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000021.9:34773325:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000021.9:34773325:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000021.9:34773325:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000021.9:34773325:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000021.9:34773325:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
TGTGTG=0.475/19
(GENOME_DK)
- HGVS:
NC_000021.9:g.34773327GT[6], NC_000021.9:g.34773327GT[7], NC_000021.9:g.34773327GT[8], NC_000021.9:g.34773327GT[9], NC_000021.9:g.34773327GT[11], NC_000021.9:g.34773327GT[12], NC_000021.9:g.34773327GT[13], NC_000021.9:g.34773327GT[14], NC_000021.9:g.34773327GT[15], NC_000021.9:g.34773327GT[16], NC_000021.9:g.34773327GT[17], NC_000021.8:g.36145624GT[6], NC_000021.8:g.36145624GT[7], NC_000021.8:g.36145624GT[8], NC_000021.8:g.36145624GT[9], NC_000021.8:g.36145624GT[11], NC_000021.8:g.36145624GT[12], NC_000021.8:g.36145624GT[13], NC_000021.8:g.36145624GT[14], NC_000021.8:g.36145624GT[15], NC_000021.8:g.36145624GT[16], NC_000021.8:g.36145624GT[17]
7.
rs1491202007 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGTGTG
[Show Flanks]
- Chromosome:
- 21:34748558
(GRCh38)
21:36120856
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34748558:GTGTG:GTGTGCGTGTG
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGCGTGTG=0./0
(
ALFA)
GTGTGC=0.00012/1
(GnomAD)
- HGVS:
8.
rs1491118455 has merged into rs1162855270 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 21:34779656
(GRCh38)
21:36151953
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34779654:TGT:T
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
-=0.00018/5
(TOMMO)
- HGVS:
9.
rs1491079771 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 21:34779884
(GRCh38)
21:36152181
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34779883:TC:
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.04999/593
(
ALFA)
-=0.00105/17
(TOMMO)
-=0.04989/4599
(GnomAD)
- HGVS:
10.
rs1491066362 has merged into rs34129862 [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,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 21:34776539
(GRCh38)
21:36148836
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34776526:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000021.9:g.34776539_34776547del, NC_000021.9:g.34776540_34776547del, NC_000021.9:g.34776541_34776547del, NC_000021.9:g.34776542_34776547del, NC_000021.9:g.34776543_34776547del, NC_000021.9:g.34776544_34776547del, NC_000021.9:g.34776545_34776547del, NC_000021.9:g.34776546_34776547del, NC_000021.9:g.34776547del, NC_000021.9:g.34776547dup, NC_000021.9:g.34776546_34776547dup, NC_000021.9:g.34776545_34776547dup, NC_000021.9:g.34776544_34776547dup, NC_000021.9:g.34776543_34776547dup, NC_000021.9:g.34776542_34776547dup, NC_000021.9:g.34776541_34776547dup, NC_000021.9:g.34776540_34776547dup, NC_000021.9:g.34776539_34776547dup, NC_000021.9:g.34776538_34776547dup, NC_000021.9:g.34776537_34776547dup, NC_000021.9:g.34776536_34776547dup, NC_000021.9:g.34776535_34776547dup, NC_000021.9:g.34776534_34776547dup, NC_000021.9:g.34776533_34776547dup, NC_000021.9:g.34776530_34776547dup, NC_000021.9:g.34776529_34776547dup, NC_000021.9:g.34776547_34776548insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.36148836_36148844del, NC_000021.8:g.36148837_36148844del, NC_000021.8:g.36148838_36148844del, NC_000021.8:g.36148839_36148844del, NC_000021.8:g.36148840_36148844del, NC_000021.8:g.36148841_36148844del, NC_000021.8:g.36148842_36148844del, NC_000021.8:g.36148843_36148844del, NC_000021.8:g.36148844del, NC_000021.8:g.36148844dup, NC_000021.8:g.36148843_36148844dup, NC_000021.8:g.36148842_36148844dup, NC_000021.8:g.36148841_36148844dup, NC_000021.8:g.36148840_36148844dup, NC_000021.8:g.36148839_36148844dup, NC_000021.8:g.36148838_36148844dup, NC_000021.8:g.36148837_36148844dup, NC_000021.8:g.36148836_36148844dup, NC_000021.8:g.36148835_36148844dup, NC_000021.8:g.36148834_36148844dup, NC_000021.8:g.36148833_36148844dup, NC_000021.8:g.36148832_36148844dup, NC_000021.8:g.36148831_36148844dup, NC_000021.8:g.36148830_36148844dup, NC_000021.8:g.36148827_36148844dup, NC_000021.8:g.36148826_36148844dup, NC_000021.8:g.36148844_36148845insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
11.
rs1491047976 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 21:34749679
(GRCh38)
21:36121976
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34749677:CTC:C
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
- HGVS:
12.
rs1491014229 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 21:34764724
(GRCh38)
21:36137021
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34764722:TGT:T
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.002276/27
(
ALFA)
-=0.0003/39
(GnomAD)
- HGVS:
13.
rs1490849904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:34775579
(GRCh38)
21:36147876
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34775578:G:A
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490822069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 21:34777817
(GRCh38)
21:36150114
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34777816:A:T
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
15.
rs1490775682 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:34780354
(GRCh38)
21:36152651
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34780353:C:G
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.00003/8
(TOPMED)
G=0.000057/8
(GnomAD)
- HGVS:
16.
rs1490761888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 21:34767946
(GRCh38)
21:36140243
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34767945:G:C
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490733180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:34766984
(GRCh38)
21:36139281
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34766983:T:C
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490564827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:34745647
(GRCh38)
21:36117944
(GRCh37)
- Canonical SPDI:
- NC_000021.9:34745646:A:G
- Gene:
- LINC01426 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: