Links from Gene
Items: 1 to 20 of 22006
1.
rs1491462246 has merged into rs34618531 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 4:62141932
(GRCh38)
4:63007650
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT
- Gene:
- LOC101927145 (Varview), ADGRL3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
ATAT=0.4553/2280
(1000Genomes)
- HGVS:
NC_000004.12:g.62141922AT[5], NC_000004.12:g.62141922AT[6], NC_000004.12:g.62141922AT[7], NC_000004.12:g.62141922AT[8], NC_000004.12:g.62141922AT[9], NC_000004.12:g.62141922AT[11], NC_000004.12:g.62141922AT[12], NC_000004.12:g.62141922AT[13], NC_000004.12:g.62141922AT[14], NC_000004.12:g.62141922AT[15], NC_000004.12:g.62141922AT[16], NC_000004.12:g.62141922AT[17], NC_000004.12:g.62141922AT[18], NC_000004.12:g.62141922AT[19], NC_000004.11:g.63007640AT[5], NC_000004.11:g.63007640AT[6], NC_000004.11:g.63007640AT[7], NC_000004.11:g.63007640AT[8], NC_000004.11:g.63007640AT[9], NC_000004.11:g.63007640AT[11], NC_000004.11:g.63007640AT[12], NC_000004.11:g.63007640AT[13], NC_000004.11:g.63007640AT[14], NC_000004.11:g.63007640AT[15], NC_000004.11:g.63007640AT[16], NC_000004.11:g.63007640AT[17], NC_000004.11:g.63007640AT[18], NC_000004.11:g.63007640AT[19]
3.
rs1491420622 has merged into rs954289296 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:62096574
(GRCh38)
4:62962292
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ADGRL3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.62096574_62096587del, NC_000004.12:g.62096576_62096587del, NC_000004.12:g.62096577_62096587del, NC_000004.12:g.62096578_62096587del, NC_000004.12:g.62096580_62096587del, NC_000004.12:g.62096581_62096587del, NC_000004.12:g.62096582_62096587del, NC_000004.12:g.62096583_62096587del, NC_000004.12:g.62096584_62096587del, NC_000004.12:g.62096585_62096587del, NC_000004.12:g.62096586_62096587del, NC_000004.12:g.62096587del, NC_000004.12:g.62096587dup, NC_000004.12:g.62096586_62096587dup, NC_000004.12:g.62096585_62096587dup, NC_000004.12:g.62096584_62096587dup, NC_000004.12:g.62096583_62096587dup, NC_000004.12:g.62096582_62096587dup, NC_000004.12:g.62096581_62096587dup, NC_000004.12:g.62096580_62096587dup, NC_000004.12:g.62096579_62096587dup, NC_000004.12:g.62096578_62096587dup, NC_000004.12:g.62096576_62096587dup, NC_000004.12:g.62096575_62096587dup, NC_000004.12:g.62096574_62096587dup, NC_000004.12:g.62096573_62096587dup, NC_000004.12:g.62096572_62096587dup, NC_000004.12:g.62096571_62096587dup, NC_000004.12:g.62096570_62096587dup, NC_000004.12:g.62096569_62096587dup, NC_000004.12:g.62096566_62096587dup, NC_000004.11:g.62962292_62962305del, NC_000004.11:g.62962294_62962305del, NC_000004.11:g.62962295_62962305del, NC_000004.11:g.62962296_62962305del, NC_000004.11:g.62962298_62962305del, NC_000004.11:g.62962299_62962305del, NC_000004.11:g.62962300_62962305del, NC_000004.11:g.62962301_62962305del, NC_000004.11:g.62962302_62962305del, NC_000004.11:g.62962303_62962305del, NC_000004.11:g.62962304_62962305del, NC_000004.11:g.62962305del, NC_000004.11:g.62962305dup, NC_000004.11:g.62962304_62962305dup, NC_000004.11:g.62962303_62962305dup, NC_000004.11:g.62962302_62962305dup, NC_000004.11:g.62962301_62962305dup, NC_000004.11:g.62962300_62962305dup, NC_000004.11:g.62962299_62962305dup, NC_000004.11:g.62962298_62962305dup, NC_000004.11:g.62962297_62962305dup, NC_000004.11:g.62962296_62962305dup, NC_000004.11:g.62962294_62962305dup, NC_000004.11:g.62962293_62962305dup, NC_000004.11:g.62962292_62962305dup, NC_000004.11:g.62962291_62962305dup, NC_000004.11:g.62962290_62962305dup, NC_000004.11:g.62962289_62962305dup, NC_000004.11:g.62962288_62962305dup, NC_000004.11:g.62962287_62962305dup, NC_000004.11:g.62962284_62962305dup
4.
rs1491324675 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 4:62140651
(GRCh38)
4:63006369
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62140650:TC:
- Gene:
- LOC101927145 (Varview), ADGRL3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.00211/45
(GnomAD)
- HGVS:
5.
rs1491292111 has merged into rs3048332 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:62140665
(GRCh38)
4:63006383
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC101927145 (Varview), ADGRL3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2827/1416
(1000Genomes)
- HGVS:
NC_000004.12:g.62140665_62140666del, NC_000004.12:g.62140666del, NC_000004.12:g.62140666dup, NC_000004.12:g.62140665_62140666dup, NC_000004.12:g.62140664_62140666dup, NC_000004.12:g.62140663_62140666dup, NC_000004.12:g.62140662_62140666dup, NC_000004.12:g.62140654_62140666dup, NC_000004.12:g.62140666_62140667insAAAAAAAAAAAAAAA, NC_000004.11:g.63006383_63006384del, NC_000004.11:g.63006384del, NC_000004.11:g.63006384dup, NC_000004.11:g.63006383_63006384dup, NC_000004.11:g.63006382_63006384dup, NC_000004.11:g.63006381_63006384dup, NC_000004.11:g.63006380_63006384dup, NC_000004.11:g.63006372_63006384dup, NC_000004.11:g.63006384_63006385insAAAAAAAAAAAAAAA
6.
rs1491286041 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTATAT
[Show Flanks]
- Chromosome:
- 4:62141922
(GRCh38)
4:63007641
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62141922:TATAT:TATATGTATAT
- Gene:
- LOC101927145 (Varview), ADGRL3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATGTATAT=0./0
(
ALFA)
TATATG=0.00037/7
(GnomAD)
- HGVS:
8.
rs1491265462 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 4:62143294
(GRCh38)
4:63009012
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62143293:GT:
- Gene:
- LOC101927145 (Varview), ADGRL3-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000084/1
(
ALFA)
-=0.000106/2
(TOMMO)
-=0.000112/13
(GnomAD)
- HGVS:
9.
rs1491264666 has merged into rs34795556 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:62082683
(GRCh38)
4:62948401
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ADGRL3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAA=0./0
(GENOME_DK)
-=0.1674/645
(ALSPAC)
-=0.4603/2305
(1000Genomes)
- HGVS:
NC_000004.12:g.62082683_62082698del, NC_000004.12:g.62082684_62082698del, NC_000004.12:g.62082687_62082698del, NC_000004.12:g.62082688_62082698del, NC_000004.12:g.62082690_62082698del, NC_000004.12:g.62082691_62082698del, NC_000004.12:g.62082692_62082698del, NC_000004.12:g.62082694_62082698del, NC_000004.12:g.62082695_62082698del, NC_000004.12:g.62082696_62082698del, NC_000004.12:g.62082697_62082698del, NC_000004.12:g.62082698del, NC_000004.12:g.62082698dup, NC_000004.12:g.62082697_62082698dup, NC_000004.12:g.62082696_62082698dup, NC_000004.11:g.62948401_62948416del, NC_000004.11:g.62948402_62948416del, NC_000004.11:g.62948405_62948416del, NC_000004.11:g.62948406_62948416del, NC_000004.11:g.62948408_62948416del, NC_000004.11:g.62948409_62948416del, NC_000004.11:g.62948410_62948416del, NC_000004.11:g.62948412_62948416del, NC_000004.11:g.62948413_62948416del, NC_000004.11:g.62948414_62948416del, NC_000004.11:g.62948415_62948416del, NC_000004.11:g.62948416del, NC_000004.11:g.62948416dup, NC_000004.11:g.62948415_62948416dup, NC_000004.11:g.62948414_62948416dup
10.
rs1491247798 has merged into rs71213035 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:62143304
(GRCh38)
4:63009022
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC101927145 (Varview), ADGRL3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.02/12
(NorthernSweden)
-=0.395/15
(GENOME_DK)
- HGVS:
NC_000004.12:g.62143304_62143320del, NC_000004.12:g.62143307_62143320del, NC_000004.12:g.62143308_62143320del, NC_000004.12:g.62143310_62143320del, NC_000004.12:g.62143311_62143320del, NC_000004.12:g.62143312_62143320del, NC_000004.12:g.62143313_62143320del, NC_000004.12:g.62143314_62143320del, NC_000004.12:g.62143315_62143320del, NC_000004.12:g.62143316_62143320del, NC_000004.12:g.62143317_62143320del, NC_000004.12:g.62143318_62143320del, NC_000004.12:g.62143319_62143320del, NC_000004.12:g.62143320del, NC_000004.12:g.62143320dup, NC_000004.12:g.62143319_62143320dup, NC_000004.12:g.62143318_62143320dup, NC_000004.12:g.62143317_62143320dup, NC_000004.12:g.62143316_62143320dup, NC_000004.11:g.63009022_63009038del, NC_000004.11:g.63009025_63009038del, NC_000004.11:g.63009026_63009038del, NC_000004.11:g.63009028_63009038del, NC_000004.11:g.63009029_63009038del, NC_000004.11:g.63009030_63009038del, NC_000004.11:g.63009031_63009038del, NC_000004.11:g.63009032_63009038del, NC_000004.11:g.63009033_63009038del, NC_000004.11:g.63009034_63009038del, NC_000004.11:g.63009035_63009038del, NC_000004.11:g.63009036_63009038del, NC_000004.11:g.63009037_63009038del, NC_000004.11:g.63009038del, NC_000004.11:g.63009038dup, NC_000004.11:g.63009037_63009038dup, NC_000004.11:g.63009036_63009038dup, NC_000004.11:g.63009035_63009038dup, NC_000004.11:g.63009034_63009038dup
15.
rs1491071482 has merged into rs1553928942 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT
[Show Flanks]
- Chromosome:
- 4:62142065
(GRCh38)
4:63007783
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62142059:TATATATAT:TATAT,NC_000004.12:62142059:TATATATAT:TATATAT,NC_000004.12:62142059:TATATATAT:TATATATATAT,NC_000004.12:62142059:TATATATAT:TATATATATATAT,NC_000004.12:62142059:TATATATAT:TATATATATATATAT,NC_000004.12:62142059:TATATATAT:TATATATATATATATAT,NC_000004.12:62142059:TATATATAT:TATATATATATATATATAT
- Gene:
- LOC101927145 (Varview), ADGRL3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATAT=0./0
(
ALFA)
-=0.00676/4
(NorthernSweden)
TA=0.00789/132
(TOMMO)
TA=0.01429/26
(Korea1K)
- HGVS:
NC_000004.12:g.62142061AT[2], NC_000004.12:g.62142061AT[3], NC_000004.12:g.62142061AT[5], NC_000004.12:g.62142061AT[6], NC_000004.12:g.62142061AT[7], NC_000004.12:g.62142061AT[8], NC_000004.12:g.62142061AT[9], NC_000004.11:g.63007779AT[2], NC_000004.11:g.63007779AT[3], NC_000004.11:g.63007779AT[5], NC_000004.11:g.63007779AT[6], NC_000004.11:g.63007779AT[7], NC_000004.11:g.63007779AT[8], NC_000004.11:g.63007779AT[9]
16.
rs1491059769 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 4:62158914
(GRCh38)
4:63024632
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62158913:TT:
- Gene:
- LOC101927145 (Varview), ADGRL3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000015/2
(GnomAD)
- HGVS:
18.
rs1491017076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 4:62155369
(GRCh38)
4:63021088
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62155369:AA:AAAA
- Gene:
- LOC101927145 (Varview), ADGRL3-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0.000061/1
(
ALFA)
AA=0.000004/1
(TOPMED)
AA=0.000008/1
(GnomAD)
- HGVS:
19.
rs1491014434 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 4:62104327
(GRCh38)
4:62970045
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62104325:AGA:A
- Gene:
- ADGRL3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.132374/1997
(
ALFA)
-=0.051313/859
(TOMMO)
-=0.285007/36836
(GnomAD)
- HGVS:
20.
rs1491007220 has merged into rs112701472 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA
[Show Flanks]
- Chromosome:
- 4:62104321
(GRCh38)
4:62970039
(GRCh37)
- Canonical SPDI:
- NC_000004.12:62104309:ACACACACACACACACA:ACACACACACA,NC_000004.12:62104309:ACACACACACACACACA:ACACACACACACA,NC_000004.12:62104309:ACACACACACACACACA:ACACACACACACACA,NC_000004.12:62104309:ACACACACACACACACA:ACACACACACACACACACA,NC_000004.12:62104309:ACACACACACACACACA:ACACACACACACACACACACA,NC_000004.12:62104309:ACACACACACACACACA:ACACACACACACACACACACACA
- Gene:
- ADGRL3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
AC=0.219643/984
(Estonian)
AC=0.225/9
(GENOME_DK)
AC=0.24/144
(NorthernSweden)
AC=0.253552/464
(Korea1K)
-=0.363727/363
(GoNL)
-=0.445887/2233
(1000Genomes)
- HGVS:
NC_000004.12:g.62104311CA[5], NC_000004.12:g.62104311CA[6], NC_000004.12:g.62104311CA[7], NC_000004.12:g.62104311CA[9], NC_000004.12:g.62104311CA[10], NC_000004.12:g.62104311CA[11], NC_000004.11:g.62970029CA[5], NC_000004.11:g.62970029CA[6], NC_000004.11:g.62970029CA[7], NC_000004.11:g.62970029CA[9], NC_000004.11:g.62970029CA[10], NC_000004.11:g.62970029CA[11]