Links from Gene
Items: 1 to 20 of 1000
1.
rs1491572852 has merged into rs67593584 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:157478574
(GRCh38)
7:157271268
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:157478566:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
T=0.00074/20
(TOMMO)
- HGVS:
NC_000007.14:g.157478574_157478578del, NC_000007.14:g.157478575_157478578del, NC_000007.14:g.157478576_157478578del, NC_000007.14:g.157478577_157478578del, NC_000007.14:g.157478578del, NC_000007.14:g.157478578dup, NC_000007.14:g.157478577_157478578dup, NC_000007.14:g.157478575_157478578dup, NC_000007.13:g.157271268_157271272del, NC_000007.13:g.157271269_157271272del, NC_000007.13:g.157271270_157271272del, NC_000007.13:g.157271271_157271272del, NC_000007.13:g.157271272del, NC_000007.13:g.157271272dup, NC_000007.13:g.157271271_157271272dup, NC_000007.13:g.157271269_157271272dup
2.
rs1491558460 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT
[Show Flanks]
- Chromosome:
- 7:157478548
(GRCh38)
7:157271242
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157478546:TTT:T,NC_000007.14:157478546:TTT:TTTT
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00111/13
(
ALFA)
-=0.00083/14
(TOMMO)
-=0.01169/979
(GnomAD)
- HGVS:
3.
rs1491539323 has merged into rs759804642 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 7:157500104
(GRCh38)
7:157292798
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:157500087:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- LOC101927914 (Varview), LOC105375610 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.12558/484
(ALSPAC)
-=0.15/6
(GENOME_DK)
- HGVS:
NC_000007.14:g.157500088TG[8], NC_000007.14:g.157500088TG[9], NC_000007.14:g.157500088TG[10], NC_000007.14:g.157500088TG[11], NC_000007.14:g.157500088TG[12], NC_000007.14:g.157500088TG[13], NC_000007.14:g.157500088TG[15], NC_000007.14:g.157500088TG[16], NC_000007.14:g.157500088TG[17], NC_000007.14:g.157500088TG[18], NC_000007.14:g.157500088TG[19], NC_000007.14:g.157500088TG[20], NC_000007.14:g.157500088TG[21], NC_000007.14:g.157500088TG[22], NC_000007.13:g.157292782TG[8], NC_000007.13:g.157292782TG[9], NC_000007.13:g.157292782TG[10], NC_000007.13:g.157292782TG[11], NC_000007.13:g.157292782TG[12], NC_000007.13:g.157292782TG[13], NC_000007.13:g.157292782TG[15], NC_000007.13:g.157292782TG[16], NC_000007.13:g.157292782TG[17], NC_000007.13:g.157292782TG[18], NC_000007.13:g.157292782TG[19], NC_000007.13:g.157292782TG[20], NC_000007.13:g.157292782TG[21], NC_000007.13:g.157292782TG[22]
4.
rs1491501567 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GCCCCGCGTGCGGGTGAGGGGT,GCCCCGCGTGCGGGTGAGGGGTCTCCCGGCCCCGCGTGCAGGCGAGGGGTTTTCCCGGCCCCGCGTGCAGGCGAGGGGT,GCCCGGTGTGCAGGTGAGGGGT,T,TT
[Show Flanks]
- Chromosome:
- 7:157483815
(GRCh38)
7:157276510
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157483815::GCCCCGCGTGCGGGTGAGGGGT,NC_000007.14:157483815::GCCCCGCGTGCGGGTGAGGGGTCTCCCGGCCCCGCGTGCAGGCGAGGGGTTTTCCCGGCCCCGCGTGCAGGCGAGGGGT,NC_000007.14:157483815::GCCCGGTGTGCAGGTGAGGGGT,NC_000007.14:157483815::T,NC_000007.14:157483815::TT
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.00011/3
(TOMMO)
- HGVS:
6.
rs1491432880 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT,CTTTTTCTT,CTTTTTCTTTTCTTTCTT,CTTTTTCTTTTCTTTTCTT,CTTTTTCTTTTTCTTTTCTT,CTTTTTCTTTTTTGTT,CTTTTTCTTTTTTGTTTTGTT,CTTTTTCTTTTTTGTTTTTGTT,CTTTTTCTTTTTTTCTT,CTTTTTCTTTTTTTTCTT,CTTTTTCTTTTTTTTTCTT,CTTTTTCTTTTTTTTTTTCTT
[Show Flanks]
- Chromosome:
- 7:157479640
(GRCh38)
7:157272335
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157479640:TT:TTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTCTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTCTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTCTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTGTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTGTTTTGTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTGTTTTTGTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTTTTCTT,NC_000007.14:157479640:TT:TTCTTTTTCTTTTTTTTTTTCTT
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTTTTTCTT=0./0
(
ALFA)
TTCTTTTTC=0.000004/1
(TOPMED)
TTCTTTTTCTTTTCTTTTC=0.000555/1
(Korea1K)
TTCTTTTTCTTTTTTGTTTTG=0.011087/71
(1000Genomes)
- HGVS:
NC_000007.14:g.157479642_157479643insCTT, NC_000007.14:g.157479642_157479643insCTTTTTCTT, NC_000007.14:g.157479641_157479642TTCTTT[2]TCTT[2], NC_000007.14:g.157479641_157479642TTCTTT[2]TCTTTTCTT[1], NC_000007.14:g.157479641_157479642TTCTTT[3]TCTT[1], NC_000007.14:g.157479641_157479642TTCTTT[2]TTTGTT[1], NC_000007.14:g.157479641_157479642TTCTTT[2]TTTGT[2]T[1], NC_000007.14:g.157479641_157479642TTCTTT[2]TTTGTT[2], NC_000007.14:g.157479641_157479642TTCTTT[2]T[4]CTT[1], NC_000007.14:g.157479641_157479642TTCTTT[2]T[5]CTT[1], NC_000007.14:g.157479641_157479642TTCTTT[2]T[6]CTT[1], NC_000007.14:g.157479641_157479642TTCTTT[2]T[8]CTT[1], NC_000007.13:g.157272336_157272337insCTT, NC_000007.13:g.157272336_157272337insCTTTTTCTT, NC_000007.13:g.157272335_157272336TTCTTT[2]TCTT[2], NC_000007.13:g.157272335_157272336TTCTTT[2]TCTTTTCTT[1], NC_000007.13:g.157272335_157272336TTCTTT[3]TCTT[1], NC_000007.13:g.157272335_157272336TTCTTT[2]TTTGTT[1], NC_000007.13:g.157272335_157272336TTCTTT[2]TTTGT[2]T[1], NC_000007.13:g.157272335_157272336TTCTTT[2]TTTGTT[2], NC_000007.13:g.157272335_157272336TTCTTT[2]T[4]CTT[1], NC_000007.13:g.157272335_157272336TTCTTT[2]T[5]CTT[1], NC_000007.13:g.157272335_157272336TTCTTT[2]T[6]CTT[1], NC_000007.13:g.157272335_157272336TTCTTT[2]T[8]CTT[1]
8.
rs1491382217 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAGCAGTCTGTGGGT,TAGCATCTGTGGGT,TAGCATTCTGTGGGT
[Show Flanks]
- Chromosome:
- 7:157480474
(GRCh38)
7:157273169
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157480474:TCTGTGGGT:TCTGTGGGTTAGCAGTCTGTGGGT,NC_000007.14:157480474:TCTGTGGGT:TCTGTGGGTTAGCATCTGTGGGT,NC_000007.14:157480474:TCTGTGGGT:TCTGTGGGTTAGCATTCTGTGGGT
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTGTGGGTTAGCATTCTGTGGGT=0.06137/728
(
ALFA)
-=0.41152/493
(Korea1K)
TCTGTGGGTTAGCAT=0.49756/6122
(TOMMO)
- HGVS:
10.
rs1491373468 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 7:157483815
(GRCh38)
7:157276509
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157483814:GC:
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
GC=0.18991/22033
(GnomAD)
GC=0.19287/3125
(TOMMO)
GC=0.240157/122
(NorthernSweden)
GC=0.252934/431
(Korea1K)
- HGVS:
15.
rs1491335338 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 7:157478383
(GRCh38)
7:157271077
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157478381:TCT:T
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.0001/4
(GnomAD)
-=0.00042/7
(TOMMO)
- HGVS:
16.
rs1491300899 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:157478434
(GRCh38)
7:157271129
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157478434:C:CC
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.001667/1
(NorthernSweden)
C=0.001874/237
(GnomAD)
- HGVS:
17.
rs1491298295 has merged into rs3071750 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:157474449
(GRCh38)
7:157267143
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:157474436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0.0006/3
(
ALFA)
T=0.3161/1583
(1000Genomes)
- HGVS:
NC_000007.14:g.157474449_157474451del, NC_000007.14:g.157474450_157474451del, NC_000007.14:g.157474451del, NC_000007.14:g.157474451dup, NC_000007.14:g.157474450_157474451dup, NC_000007.14:g.157474449_157474451dup, NC_000007.14:g.157474447_157474451dup, NC_000007.14:g.157474438_157474451dup, NC_000007.13:g.157267143_157267145del, NC_000007.13:g.157267144_157267145del, NC_000007.13:g.157267145del, NC_000007.13:g.157267145dup, NC_000007.13:g.157267144_157267145dup, NC_000007.13:g.157267143_157267145dup, NC_000007.13:g.157267141_157267145dup, NC_000007.13:g.157267132_157267145dup
18.
rs1491277899 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:157478438
(GRCh38)
7:157271133
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157478438:C:CC
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.001115/19
(TOMMO)
C=0.004383/525
(GnomAD)
- HGVS:
19.
rs1491270813 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAGCATTCTGTGGGT
[Show Flanks]
- Chromosome:
- 7:157480163
(GRCh38)
7:157272858
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157480163:TCTGTGGGT:TCTGTGGGTTAGCATTCTGTGGGT
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TCTGTGGGTTAGCAT=0.00945/10
(Korea1K)
TCTGTGGGTTAGCAT=0.01209/52
(TOMMO)
TCTGTGGGTTAGCAT=0.01258/167
(GnomAD)
- HGVS:
20.
rs1491268579 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 7:157482353
(GRCh38)
7:157275047
(GRCh37)
- Canonical SPDI:
- NC_000007.14:157482352:TC:
- Gene:
- LOC101927914 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.00008/2
(GnomAD)
- HGVS: