Links from Gene
Items: 1 to 20 of 1000
3.
rs1491397408 has merged into rs58384978 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:115128771
(GRCh38)
5:114464468
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:115128758:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.125/5
(GENOME_DK)
- HGVS:
NC_000005.10:g.115128771_115128788del, NC_000005.10:g.115128772_115128788del, NC_000005.10:g.115128773_115128788del, NC_000005.10:g.115128774_115128788del, NC_000005.10:g.115128775_115128788del, NC_000005.10:g.115128776_115128788del, NC_000005.10:g.115128777_115128788del, NC_000005.10:g.115128778_115128788del, NC_000005.10:g.115128779_115128788del, NC_000005.10:g.115128780_115128788del, NC_000005.10:g.115128781_115128788del, NC_000005.10:g.115128782_115128788del, NC_000005.10:g.115128783_115128788del, NC_000005.10:g.115128784_115128788del, NC_000005.10:g.115128785_115128788del, NC_000005.10:g.115128786_115128788del, NC_000005.10:g.115128787_115128788del, NC_000005.10:g.115128788del, NC_000005.10:g.115128788dup, NC_000005.10:g.115128787_115128788dup, NC_000005.10:g.115128786_115128788dup, NC_000005.10:g.115128785_115128788dup, NC_000005.10:g.115128784_115128788dup, NC_000005.10:g.115128783_115128788dup, NC_000005.10:g.115128782_115128788dup, NC_000005.10:g.115128781_115128788dup, NC_000005.10:g.115128780_115128788dup, NC_000005.10:g.115128779_115128788dup, NC_000005.10:g.115128778_115128788dup, NC_000005.10:g.115128777_115128788dup, NC_000005.10:g.115128776_115128788dup, NC_000005.10:g.115128775_115128788dup, NC_000005.10:g.115128774_115128788dup, NC_000005.10:g.115128773_115128788dup, NC_000005.10:g.115128772_115128788dup, NC_000005.10:g.115128771_115128788dup, NC_000005.10:g.115128770_115128788dup, NC_000005.10:g.115128769_115128788dup, NC_000005.10:g.115128768_115128788dup, NC_000005.10:g.115128767_115128788dup, NC_000005.10:g.115128766_115128788dup, NC_000005.10:g.115128765_115128788dup, NC_000005.10:g.115128764_115128788dup, NC_000005.10:g.115128762_115128788dup, NC_000005.10:g.115128761_115128788dup, NC_000005.9:g.114464468_114464485del, NC_000005.9:g.114464469_114464485del, NC_000005.9:g.114464470_114464485del, NC_000005.9:g.114464471_114464485del, NC_000005.9:g.114464472_114464485del, NC_000005.9:g.114464473_114464485del, NC_000005.9:g.114464474_114464485del, NC_000005.9:g.114464475_114464485del, NC_000005.9:g.114464476_114464485del, NC_000005.9:g.114464477_114464485del, NC_000005.9:g.114464478_114464485del, NC_000005.9:g.114464479_114464485del, NC_000005.9:g.114464480_114464485del, NC_000005.9:g.114464481_114464485del, NC_000005.9:g.114464482_114464485del, NC_000005.9:g.114464483_114464485del, NC_000005.9:g.114464484_114464485del, NC_000005.9:g.114464485del, NC_000005.9:g.114464485dup, NC_000005.9:g.114464484_114464485dup, NC_000005.9:g.114464483_114464485dup, NC_000005.9:g.114464482_114464485dup, NC_000005.9:g.114464481_114464485dup, NC_000005.9:g.114464480_114464485dup, NC_000005.9:g.114464479_114464485dup, NC_000005.9:g.114464478_114464485dup, NC_000005.9:g.114464477_114464485dup, NC_000005.9:g.114464476_114464485dup, NC_000005.9:g.114464475_114464485dup, NC_000005.9:g.114464474_114464485dup, NC_000005.9:g.114464473_114464485dup, NC_000005.9:g.114464472_114464485dup, NC_000005.9:g.114464471_114464485dup, NC_000005.9:g.114464470_114464485dup, NC_000005.9:g.114464469_114464485dup, NC_000005.9:g.114464468_114464485dup, NC_000005.9:g.114464467_114464485dup, NC_000005.9:g.114464466_114464485dup, NC_000005.9:g.114464465_114464485dup, NC_000005.9:g.114464464_114464485dup, NC_000005.9:g.114464463_114464485dup, NC_000005.9:g.114464462_114464485dup, NC_000005.9:g.114464461_114464485dup, NC_000005.9:g.114464459_114464485dup, NC_000005.9:g.114464458_114464485dup
4.
rs1491315954 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 5:115162014
(GRCh38)
5:114497712
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115162014:T:TT
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000064/17
(TOPMED)
T=0.000283/5
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
5.
rs1491187900 has merged into rs146223001 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:115148425
(GRCh38)
5:114484122
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:115148415:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTT=0./0
(GENOME_DK)
TTTTTTTTTTTTT=0.2011/1007
(1000Genomes)
- HGVS:
NC_000005.10:g.115148425_115148438del, NC_000005.10:g.115148426_115148438del, NC_000005.10:g.115148427_115148438del, NC_000005.10:g.115148428_115148438del, NC_000005.10:g.115148429_115148438del, NC_000005.10:g.115148430_115148438del, NC_000005.10:g.115148431_115148438del, NC_000005.10:g.115148432_115148438del, NC_000005.10:g.115148433_115148438del, NC_000005.10:g.115148434_115148438del, NC_000005.10:g.115148435_115148438del, NC_000005.10:g.115148436_115148438del, NC_000005.10:g.115148437_115148438del, NC_000005.10:g.115148438del, NC_000005.10:g.115148438dup, NC_000005.10:g.115148437_115148438dup, NC_000005.10:g.115148436_115148438dup, NC_000005.10:g.115148435_115148438dup, NC_000005.10:g.115148434_115148438dup, NC_000005.10:g.115148433_115148438dup, NC_000005.10:g.115148432_115148438dup, NC_000005.10:g.115148431_115148438dup, NC_000005.10:g.115148430_115148438dup, NC_000005.10:g.115148429_115148438dup, NC_000005.10:g.115148428_115148438dup, NC_000005.10:g.115148418_115148438dup, NC_000005.9:g.114484122_114484135del, NC_000005.9:g.114484123_114484135del, NC_000005.9:g.114484124_114484135del, NC_000005.9:g.114484125_114484135del, NC_000005.9:g.114484126_114484135del, NC_000005.9:g.114484127_114484135del, NC_000005.9:g.114484128_114484135del, NC_000005.9:g.114484129_114484135del, NC_000005.9:g.114484130_114484135del, NC_000005.9:g.114484131_114484135del, NC_000005.9:g.114484132_114484135del, NC_000005.9:g.114484133_114484135del, NC_000005.9:g.114484134_114484135del, NC_000005.9:g.114484135del, NC_000005.9:g.114484135dup, NC_000005.9:g.114484134_114484135dup, NC_000005.9:g.114484133_114484135dup, NC_000005.9:g.114484132_114484135dup, NC_000005.9:g.114484131_114484135dup, NC_000005.9:g.114484130_114484135dup, NC_000005.9:g.114484129_114484135dup, NC_000005.9:g.114484128_114484135dup, NC_000005.9:g.114484127_114484135dup, NC_000005.9:g.114484126_114484135dup, NC_000005.9:g.114484125_114484135dup, NC_000005.9:g.114484115_114484135dup
6.
rs1491038391 has merged into rs11341793 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 5:115134557
(GRCh38)
5:114470254
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115134546:TTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:115134546:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:115134546:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:115134546:TTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0.0389/281
(
ALFA)
-=0.4399/2078
(1000Genomes)
- HGVS:
7.
rs1491034427 has merged into rs371373270 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:115144045
(GRCh38)
5:114479742
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115144037:TTTTTTTTTT:TTTTTTT,NC_000005.10:115144037:TTTTTTTTTT:TTTTTTTT,NC_000005.10:115144037:TTTTTTTTTT:TTTTTTTTT,NC_000005.10:115144037:TTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:115144037:TTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:115144037:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:115144037:TTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
TT=0.4059/1815
(Estonian)
-=0.4397/2202
(1000Genomes)
- HGVS:
NC_000005.10:g.115144045_115144047del, NC_000005.10:g.115144046_115144047del, NC_000005.10:g.115144047del, NC_000005.10:g.115144047dup, NC_000005.10:g.115144046_115144047dup, NC_000005.10:g.115144045_115144047dup, NC_000005.10:g.115144042_115144047dup, NC_000005.9:g.114479742_114479744del, NC_000005.9:g.114479743_114479744del, NC_000005.9:g.114479744del, NC_000005.9:g.114479744dup, NC_000005.9:g.114479743_114479744dup, NC_000005.9:g.114479742_114479744dup, NC_000005.9:g.114479739_114479744dup
8.
rs1490993573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:115140558
(GRCh38)
5:114476255
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115140557:C:T
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490956685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:115125713
(GRCh38)
5:114461410
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115125712:C:G
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
NC_000005.10:g.115125713C>G, NC_000005.9:g.114461410C>G, NM_018700.4:c.*790G>C, NM_018700.3:c.*790G>C, XM_017009621.3:c.*790G>C, XM_017009621.2:c.*790G>C, XM_017009621.1:c.*790G>C, XM_017009622.3:c.*790G>C, XM_017009622.2:c.*790G>C, XM_017009622.1:c.*790G>C, NM_001300759.2:c.*790G>C, NM_001300759.1:c.*790G>C, NM_001300752.2:c.*790G>C, NM_001300752.1:c.*790G>C, XM_047417360.1:c.*790G>C, XM_047417361.1:c.*790G>C
10.
rs1490935220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:115153386
(GRCh38)
5:114489083
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115153385:A:G
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490885824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:115156781
(GRCh38)
5:114492478
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115156780:C:A
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000038/10
(TOPMED)
A=0.000156/1
(1000Genomes)
A=0.000212/4
(TOMMO)
A=0.000546/1
(Korea1K)
- HGVS:
12.
rs1490850462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:115144684
(GRCh38)
5:114480381
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115144683:T:G
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000005.10:g.115144684T>G, NC_000005.9:g.114480381T>G, NM_018700.4:c.685A>C, NM_018700.3:c.685A>C, XM_017009621.3:c.736A>C, XM_017009621.2:c.736A>C, XM_017009621.1:c.736A>C, XM_017009622.3:c.700A>C, XM_017009622.2:c.700A>C, XM_017009622.1:c.700A>C, XM_017009623.3:c.736A>C, XM_017009623.2:c.736A>C, XM_017009623.1:c.736A>C, NM_001300759.2:c.649A>C, NM_001300759.1:c.649A>C, NM_001300752.2:c.220A>C, NM_001300752.1:c.220A>C, XM_047417360.1:c.418A>C, XM_047417361.1:c.220A>C, XM_047417362.1:c.736A>C
13.
rs1490846813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 5:115158789
(GRCh38)
5:114494486
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115158788:C:A,NC_000005.10:115158788:C:G
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00021/4
(TOMMO)
G=0.00055/1
(Korea1K)
- HGVS:
14.
rs1490817173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:115180116
(GRCh38)
5:114515813
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115180115:T:C
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
NC_000005.10:g.115180116T>C, NC_000005.9:g.114515813T>C, NM_018700.4:c.-79A>G, NM_018700.3:c.-79A>G, XM_017009621.3:c.-79A>G, XM_017009621.2:c.-79A>G, XM_017009621.1:c.-79A>G, XM_017009623.3:c.-79A>G, XM_017009623.2:c.-79A>G, XM_017009623.1:c.-79A>G, NM_001300752.2:c.-309A>G, NM_001300752.1:c.-309A>G, NM_001017398.2:c.-79A>G, NM_001017398.1:c.-79A>G, NM_001017397.2:c.-79A>G, NM_001017397.1:c.-79A>G, XM_047417362.1:c.-79A>G
15.
rs1490787403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:115143048
(GRCh38)
5:114478745
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115143047:A:C
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
16.
rs1490717420 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TATA>-
[Show Flanks]
- Chromosome:
- 5:115139636
(GRCh38)
5:114475333
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115139635:TATA:
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490591284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:115146175
(GRCh38)
5:114481872
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115146174:C:G
- Gene:
- TRIM36 (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:
18.
rs1490542652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:115159006
(GRCh38)
5:114494703
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115159005:C:T
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490466577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:115124916
(GRCh38)
5:114460613
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115124915:A:G
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000005.10:g.115124916A>G, NC_000005.9:g.114460613A>G, NM_018700.4:c.*1587T>C, NM_018700.3:c.*1587T>C, XM_017009621.3:c.*1587T>C, XM_017009622.3:c.*1587T>C, NM_001300759.2:c.*1587T>C, NM_001300759.1:c.*1587T>C, NM_001300752.2:c.*1587T>C, NM_001300752.1:c.*1587T>C, XM_047417360.1:c.*1587T>C, XM_047417361.1:c.*1587T>C
20.
rs1490445702 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 5:115153082
(GRCh38)
5:114488779
(GRCh37)
- Canonical SPDI:
- NC_000005.10:115153081:G:
- Gene:
- TRIM36 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS: