Links from Gene
Items: 1 to 20 of 1000
3.
rs1491556183 has merged into rs375990202 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 5:145726305
(GRCh38)
5:145105868
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145726303:AAA:A
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.002613/31
(
ALFA)
-=0.000037/1
(TOMMO)
-=0.003601/473
(GnomAD)
- HGVS:
4.
rs1491554473 has merged into rs35135521 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:145768233
(GRCh38)
5:145147796
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145768223:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.145768233_145768245del, NC_000005.10:g.145768237_145768245del, NC_000005.10:g.145768238_145768245del, NC_000005.10:g.145768241_145768245del, NC_000005.10:g.145768242_145768245del, NC_000005.10:g.145768243_145768245del, NC_000005.10:g.145768244_145768245del, NC_000005.10:g.145768245del, NC_000005.10:g.145768245dup, NC_000005.10:g.145768244_145768245dup, NC_000005.10:g.145768243_145768245dup, NC_000005.10:g.145768242_145768245dup, NC_000005.10:g.145768241_145768245dup, NC_000005.9:g.145147796_145147808del, NC_000005.9:g.145147800_145147808del, NC_000005.9:g.145147801_145147808del, NC_000005.9:g.145147804_145147808del, NC_000005.9:g.145147805_145147808del, NC_000005.9:g.145147806_145147808del, NC_000005.9:g.145147807_145147808del, NC_000005.9:g.145147808del, NC_000005.9:g.145147808dup, NC_000005.9:g.145147807_145147808dup, NC_000005.9:g.145147806_145147808dup, NC_000005.9:g.145147805_145147808dup, NC_000005.9:g.145147804_145147808dup
5.
rs1491545167 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 5:145696156
(GRCh38)
5:145075719
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145696155:CT:
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
6.
rs1491541560 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GA,GAA,GAAA,GAAAA,GAAAAA,GAAAAAA,GAAAAAAA,GAAAAAAAA,GAAAAAAAAA,GGA,GGAA,GGAAAA
[Show Flanks]
- Chromosome:
- 5:145600420
(GRCh38)
5:144979984
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145600420::GA,NC_000005.10:145600420::GAA,NC_000005.10:145600420::GAAA,NC_000005.10:145600420::GAAAA,NC_000005.10:145600420::GAAAAA,NC_000005.10:145600420::GAAAAAA,NC_000005.10:145600420::GAAAAAAA,NC_000005.10:145600420::GAAAAAAAA,NC_000005.10:145600420::GAAAAAAAAA,NC_000005.10:145600420::GGA,NC_000005.10:145600420::GGAA,NC_000005.10:145600420::GGAAAA
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.145600420_145600421insGA, NC_000005.10:g.145600420_145600421insGAA, NC_000005.10:g.145600420_145600421insGAAA, NC_000005.10:g.145600420_145600421insGAAAA, NC_000005.10:g.145600420_145600421insGAAAAA, NC_000005.10:g.145600420_145600421insGAAAAAA, NC_000005.10:g.145600420_145600421insGAAAAAAA, NC_000005.10:g.145600420_145600421insGAAAAAAAA, NC_000005.10:g.145600420_145600421insGAAAAAAAAA, NC_000005.10:g.145600420_145600421insGGA, NC_000005.10:g.145600420_145600421insGGAA, NC_000005.10:g.145600420_145600421insGGAAAA, NC_000005.9:g.144979983_144979984insGA, NC_000005.9:g.144979983_144979984insGAA, NC_000005.9:g.144979983_144979984insGAAA, NC_000005.9:g.144979983_144979984insGAAAA, NC_000005.9:g.144979983_144979984insGAAAAA, NC_000005.9:g.144979983_144979984insGAAAAAA, NC_000005.9:g.144979983_144979984insGAAAAAAA, NC_000005.9:g.144979983_144979984insGAAAAAAAA, NC_000005.9:g.144979983_144979984insGAAAAAAAAA, NC_000005.9:g.144979983_144979984insGGA, NC_000005.9:g.144979983_144979984insGGAA, NC_000005.9:g.144979983_144979984insGGAAAA
8.
rs1491528253 has merged into rs59424142 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:145743422
(GRCh38)
5:145122985
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145743411:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.145743422_145743430del, NC_000005.10:g.145743423_145743430del, NC_000005.10:g.145743424_145743430del, NC_000005.10:g.145743425_145743430del, NC_000005.10:g.145743426_145743430del, NC_000005.10:g.145743427_145743430del, NC_000005.10:g.145743428_145743430del, NC_000005.10:g.145743429_145743430del, NC_000005.10:g.145743430del, NC_000005.10:g.145743430dup, NC_000005.10:g.145743429_145743430dup, NC_000005.10:g.145743425_145743430dup, NC_000005.10:g.145743423_145743430dup, NC_000005.9:g.145122985_145122993del, NC_000005.9:g.145122986_145122993del, NC_000005.9:g.145122987_145122993del, NC_000005.9:g.145122988_145122993del, NC_000005.9:g.145122989_145122993del, NC_000005.9:g.145122990_145122993del, NC_000005.9:g.145122991_145122993del, NC_000005.9:g.145122992_145122993del, NC_000005.9:g.145122993del, NC_000005.9:g.145122993dup, NC_000005.9:g.145122992_145122993dup, NC_000005.9:g.145122988_145122993dup, NC_000005.9:g.145122986_145122993dup
9.
rs1491518500 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,T,TT,TTT,TTTTT
[Show Flanks]
- Chromosome:
- 5:145742324
(GRCh38)
5:145121888
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145742324:T:TGT,NC_000005.10:145742324:T:TT,NC_000005.10:145742324:T:TTT,NC_000005.10:145742324:T:TTTT,NC_000005.10:145742324:T:TTTTTT
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
TT=0.00776/11
(Korea1K)
- HGVS:
12.
rs1491488740 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT
[Show Flanks]
- Chromosome:
- 5:145740624
(GRCh38)
5:145120187
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145740615:ATATATATATAT:ATATATAT,NC_000005.10:145740615:ATATATATATAT:ATATATATAT,NC_000005.10:145740615:ATATATATATAT:ATATATATATATAT
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATAT=0./0
(
ALFA)
- HGVS:
13.
rs1491480453 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAGTA
[Show Flanks]
- Chromosome:
- 5:145740902
(GRCh38)
5:145120466
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145740902:TA:TAAAGTA
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
TAAAG=0.00001/1
(GnomAD)
- HGVS:
15.
rs1491455502 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 5:145817206
(GRCh38)
5:145196769
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145817204:AAA:A
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00042/5
(
ALFA)
-=0.00118/19
(TOMMO)
-=0.02372/1365
(GnomAD)
- HGVS:
16.
rs1491450480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATA,GATA
[Show Flanks]
- Chromosome:
- 5:145790892
(GRCh38)
5:145170456
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145790892:ATA:ATACATA,NC_000005.10:145790892:ATA:ATAGATA
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATACATA=0.00009/1
(
ALFA)
ATAG=0.00007/0
(TOMMO)
ATAC=0.00017/1
(GnomAD)
- HGVS:
17.
rs1491449608 has merged into rs148531864 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 5:145790717
(GRCh38)
5:145170280
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145790701:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TGTGTGTG=0.125/5
(GENOME_DK)
-=0.27097/1357
(1000Genomes)
- HGVS:
NC_000005.10:g.145790703GT[7], NC_000005.10:g.145790703GT[8], NC_000005.10:g.145790703GT[9], NC_000005.10:g.145790703GT[11], NC_000005.10:g.145790703GT[12], NC_000005.10:g.145790703GT[13], NC_000005.10:g.145790703GT[14], NC_000005.10:g.145790703GT[15], NC_000005.10:g.145790703GT[16], NC_000005.10:g.145790703GT[17], NC_000005.10:g.145790703GT[18], NC_000005.10:g.145790703GT[19], NC_000005.9:g.145170266GT[7], NC_000005.9:g.145170266GT[8], NC_000005.9:g.145170266GT[9], NC_000005.9:g.145170266GT[11], NC_000005.9:g.145170266GT[12], NC_000005.9:g.145170266GT[13], NC_000005.9:g.145170266GT[14], NC_000005.9:g.145170266GT[15], NC_000005.9:g.145170266GT[16], NC_000005.9:g.145170266GT[17], NC_000005.9:g.145170266GT[18], NC_000005.9:g.145170266GT[19]
18.
rs1491418789 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 5:145600420
(GRCh38)
5:144979983
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145600419:GA:
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00002/2
(GnomAD)
- HGVS:
19.
rs1491411525 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 5:145781676
(GRCh38)
5:145161239
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145781675:TT:
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.002143/35
(
ALFA)
-=0.000319/5
(TOMMO)
-=0.000554/1
(Korea1K)
-=0.001955/260
(GnomAD)
-=0.004685/23
(1000Genomes)
- HGVS:
20.
rs1491403298 has merged into rs200034950 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:145817214
(GRCh38)
5:145196777
(GRCh37)
- Canonical SPDI:
- NC_000005.10:145817212:AAAAAAAAA:A,NC_000005.10:145817212:AAAAAAAAA:AAA,NC_000005.10:145817212:AAAAAAAAA:AAAAA,NC_000005.10:145817212:AAAAAAAAA:AAAAAAA,NC_000005.10:145817212:AAAAAAAAA:AAAAAAAA,NC_000005.10:145817212:AAAAAAAAA:AAAAAAAAAA,NC_000005.10:145817212:AAAAAAAAA:AAAAAAAAAAA,NC_000005.10:145817212:AAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- PRELID2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.145817214_145817221del, NC_000005.10:g.145817216_145817221del, NC_000005.10:g.145817218_145817221del, NC_000005.10:g.145817220_145817221del, NC_000005.10:g.145817221del, NC_000005.10:g.145817221dup, NC_000005.10:g.145817220_145817221dup, NC_000005.10:g.145817217_145817221dup, NC_000005.9:g.145196777_145196784del, NC_000005.9:g.145196779_145196784del, NC_000005.9:g.145196781_145196784del, NC_000005.9:g.145196783_145196784del, NC_000005.9:g.145196784del, NC_000005.9:g.145196784dup, NC_000005.9:g.145196783_145196784dup, NC_000005.9:g.145196780_145196784dup