Links from Gene
Items: 1 to 20 of 42981
1.
rs1491583254 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,G,T,TAT,TATAT,TATATAT,TATATATAT,TATATATATAT,TATATATATATAT,TATATATATATATAT,TATATATATATATATAT,TTT
[Show Flanks]
- Chromosome:
- 14:91062611
(GRCh38)
14:91528956
(GRCh37)
- Canonical SPDI:
- NC_000014.9:91062611::C,NC_000014.9:91062611::G,NC_000014.9:91062611::T,NC_000014.9:91062611::TAT,NC_000014.9:91062611::TATAT,NC_000014.9:91062611::TATATAT,NC_000014.9:91062611::TATATATAT,NC_000014.9:91062611::TATATATATAT,NC_000014.9:91062611::TATATATATATAT,NC_000014.9:91062611::TATATATATATATAT,NC_000014.9:91062611::TATATATATATATATAT,NC_000014.9:91062611::TTT
- Gene:
- RPS6KA5 (Varview), DGLUCY (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.0119/2
(NorthernSweden)
- HGVS:
NC_000014.9:g.91062611_91062612insC, NC_000014.9:g.91062611_91062612insG, NC_000014.9:g.91062611_91062612insT, NC_000014.9:g.91062611_91062612insTAT, NC_000014.9:g.91062611_91062612insTATAT, NC_000014.9:g.91062611_91062612insTATATAT, NC_000014.9:g.91062611_91062612insTATATATAT, NC_000014.9:g.91062611_91062612insTATATATATAT, NC_000014.9:g.91062611_91062612insTATATATATATAT, NC_000014.9:g.91062611_91062612insTATATATATATATAT, NC_000014.9:g.91062611_91062612insTATATATATATATATAT, NC_000014.9:g.91062611_91062612insTTT, NC_000014.8:g.91528955_91528956insC, NC_000014.8:g.91528955_91528956insG, NC_000014.8:g.91528955_91528956insT, NC_000014.8:g.91528955_91528956insTAT, NC_000014.8:g.91528955_91528956insTATAT, NC_000014.8:g.91528955_91528956insTATATAT, NC_000014.8:g.91528955_91528956insTATATATAT, NC_000014.8:g.91528955_91528956insTATATATATAT, NC_000014.8:g.91528955_91528956insTATATATATATAT, NC_000014.8:g.91528955_91528956insTATATATATATATAT, NC_000014.8:g.91528955_91528956insTATATATATATATATAT, NC_000014.8:g.91528955_91528956insTTT
3.
rs1491559576 has merged into rs71117389 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:90925950
(GRCh38)
14:91392294
(GRCh37)
- Canonical SPDI:
- NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:90925941:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.4/16
(GENOME_DK)
- HGVS:
NC_000014.9:g.90925950_90925962del, NC_000014.9:g.90925951_90925962del, NC_000014.9:g.90925952_90925962del, NC_000014.9:g.90925953_90925962del, NC_000014.9:g.90925954_90925962del, NC_000014.9:g.90925955_90925962del, NC_000014.9:g.90925956_90925962del, NC_000014.9:g.90925958_90925962del, NC_000014.9:g.90925959_90925962del, NC_000014.9:g.90925960_90925962del, NC_000014.9:g.90925961_90925962del, NC_000014.9:g.90925962del, NC_000014.9:g.90925962dup, NC_000014.9:g.90925961_90925962dup, NC_000014.9:g.90925960_90925962dup, NC_000014.9:g.90925959_90925962dup, NC_000014.9:g.90925958_90925962dup, NC_000014.9:g.90925957_90925962dup, NC_000014.9:g.90925956_90925962dup, NC_000014.9:g.90925955_90925962dup, NC_000014.9:g.90925954_90925962dup, NC_000014.9:g.90925953_90925962dup, NC_000014.9:g.90925952_90925962dup, NC_000014.9:g.90925951_90925962dup, NC_000014.9:g.90925950_90925962dup, NC_000014.9:g.90925949_90925962dup, NC_000014.9:g.90925948_90925962dup, NC_000014.9:g.90925947_90925962dup, NC_000014.9:g.90925946_90925962dup, NC_000014.9:g.90925945_90925962dup, NC_000014.9:g.90925944_90925962dup, NC_000014.9:g.90925943_90925962dup, NC_000014.9:g.90925942_90925962dup, NC_000014.9:g.90925962_90925963insAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.90925962_90925963insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.90925962_90925963insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.90925962_90925963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.90925962_90925963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.90925962_90925963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.90925962_90925963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.90925962_90925963insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.91392294_91392306del, NC_000014.8:g.91392295_91392306del, NC_000014.8:g.91392296_91392306del, NC_000014.8:g.91392297_91392306del, NC_000014.8:g.91392298_91392306del, NC_000014.8:g.91392299_91392306del, NC_000014.8:g.91392300_91392306del, NC_000014.8:g.91392302_91392306del, NC_000014.8:g.91392303_91392306del, NC_000014.8:g.91392304_91392306del, NC_000014.8:g.91392305_91392306del, NC_000014.8:g.91392306del, NC_000014.8:g.91392306dup, NC_000014.8:g.91392305_91392306dup, NC_000014.8:g.91392304_91392306dup, NC_000014.8:g.91392303_91392306dup, NC_000014.8:g.91392302_91392306dup, NC_000014.8:g.91392301_91392306dup, NC_000014.8:g.91392300_91392306dup, NC_000014.8:g.91392299_91392306dup, NC_000014.8:g.91392298_91392306dup, NC_000014.8:g.91392297_91392306dup, NC_000014.8:g.91392296_91392306dup, NC_000014.8:g.91392295_91392306dup, NC_000014.8:g.91392294_91392306dup, NC_000014.8:g.91392293_91392306dup, NC_000014.8:g.91392292_91392306dup, NC_000014.8:g.91392291_91392306dup, NC_000014.8:g.91392290_91392306dup, NC_000014.8:g.91392289_91392306dup, NC_000014.8:g.91392288_91392306dup, NC_000014.8:g.91392287_91392306dup, NC_000014.8:g.91392286_91392306dup, NC_000014.8:g.91392306_91392307insAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.91392306_91392307insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.91392306_91392307insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.91392306_91392307insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.91392306_91392307insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.91392306_91392307insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.91392306_91392307insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.91392306_91392307insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491552528 has merged into rs1280228009 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA
[Show Flanks]
- Chromosome:
- 14:90951147
(GRCh38)
14:91417491
(GRCh37)
- Canonical SPDI:
- NC_000014.9:90951135:AGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000014.9:90951135:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000014.9:90951135:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000014.9:90951135:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000014.9:90951135:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGA=0./0
(
ALFA)
AG=0.00382/7
(Korea1K)
- HGVS:
5.
rs1491545912 has merged into rs200161761 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:91052840
(GRCh38)
14:91519184
(GRCh37)
- Canonical SPDI:
- NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:91052833:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
AAA=0.3051/1528
(1000Genomes)
- HGVS:
NC_000014.9:g.91052840_91052854del, NC_000014.9:g.91052847_91052854del, NC_000014.9:g.91052849_91052854del, NC_000014.9:g.91052850_91052854del, NC_000014.9:g.91052851_91052854del, NC_000014.9:g.91052852_91052854del, NC_000014.9:g.91052853_91052854del, NC_000014.9:g.91052854del, NC_000014.9:g.91052854dup, NC_000014.9:g.91052853_91052854dup, NC_000014.9:g.91052852_91052854dup, NC_000014.9:g.91052851_91052854dup, NC_000014.9:g.91052848_91052854dup, NC_000014.8:g.91519184_91519198del, NC_000014.8:g.91519191_91519198del, NC_000014.8:g.91519193_91519198del, NC_000014.8:g.91519194_91519198del, NC_000014.8:g.91519195_91519198del, NC_000014.8:g.91519196_91519198del, NC_000014.8:g.91519197_91519198del, NC_000014.8:g.91519198del, NC_000014.8:g.91519198dup, NC_000014.8:g.91519197_91519198dup, NC_000014.8:g.91519196_91519198dup, NC_000014.8:g.91519195_91519198dup, NC_000014.8:g.91519192_91519198dup
7.
rs1491494181 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,G
[Show Flanks]
- Chromosome:
- 14:90983786
(GRCh38)
14:91450131
(GRCh37)
- Canonical SPDI:
- NC_000014.9:90983786::C,NC_000014.9:90983786::G
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00026/30
(GnomAD)
C=0.001023/17
(TOMMO)
C=0.004923/9
(Korea1K)
- HGVS:
8.
rs1491476623 has merged into rs201455291 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:91034319
(GRCh38)
14:91500663
(GRCh37)
- Canonical SPDI:
- NC_000014.9:91034306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:91034306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:91034306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:91034306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:91034306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:91034306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:91034306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:91034306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:91034306:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1058/62
(NorthernSweden)
-=0.25799/1292
(1000Genomes)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000014.9:g.91034319_91034322del, NC_000014.9:g.91034320_91034322del, NC_000014.9:g.91034321_91034322del, NC_000014.9:g.91034322del, NC_000014.9:g.91034322dup, NC_000014.9:g.91034321_91034322dup, NC_000014.9:g.91034320_91034322dup, NC_000014.9:g.91034319_91034322dup, NC_000014.9:g.91034316_91034322dup, NC_000014.8:g.91500663_91500666del, NC_000014.8:g.91500664_91500666del, NC_000014.8:g.91500665_91500666del, NC_000014.8:g.91500666del, NC_000014.8:g.91500666dup, NC_000014.8:g.91500665_91500666dup, NC_000014.8:g.91500664_91500666dup, NC_000014.8:g.91500663_91500666dup, NC_000014.8:g.91500660_91500666dup
10.
rs1491451682 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 14:90870806
(GRCh38)
14:91337151
(GRCh37)
- Canonical SPDI:
- NC_000014.9:90870806:T:TCT
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000014.9:g.90870807_90870808insCT, NC_000014.8:g.91337151_91337152insCT, NM_004755.4:c.*1267_*1268insGA, NM_004755.3:c.*1267_*1268insGA, NM_001322230.2:c.*1267_*1268insGA, NM_001322230.1:c.*1267_*1268insGA, NM_001322227.2:c.*1267_*1268insGA, NM_001322227.1:c.*1267_*1268insGA, NM_001322235.2:c.*1267_*1268insGA, NM_001322235.1:c.*1267_*1268insGA, NM_001322234.2:c.*1267_*1268insGA, NM_001322234.1:c.*1267_*1268insGA, NM_001322229.2:c.*1267_*1268insGA, NM_001322229.1:c.*1267_*1268insGA, NM_001322236.2:c.*1267_*1268insGA, NM_001322236.1:c.*1267_*1268insGA, NM_001322231.2:c.*1267_*1268insGA, NM_001322231.1:c.*1267_*1268insGA, NM_001322228.2:c.*1267_*1268insGA, NM_001322228.1:c.*1267_*1268insGA, NM_001322233.2:c.*1267_*1268insGA, NM_001322233.1:c.*1267_*1268insGA, NM_001322237.2:c.*1267_*1268insGA, NM_001322237.1:c.*1267_*1268insGA, NM_001322232.2:c.*1267_*1268insGA, NM_001322232.1:c.*1267_*1268insGA, NM_001322238.2:c.*1267_*1268insGA, NM_001322238.1:c.*1267_*1268insGA
12.
rs1491446641 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 14:90983787
(GRCh38)
14:91450131
(GRCh37)
- Canonical SPDI:
- NC_000014.9:90983785:TTT:T
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000253/3
(
ALFA)
-=0.000214/4
(TOMMO)
-=0.001846/213
(GnomAD)
- HGVS:
13.
rs1491442613 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 14:90991722
(GRCh38)
14:91458066
(GRCh37)
- Canonical SPDI:
- NC_000014.9:90991721:AA:
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
14.
rs1491438306 has merged into rs10609342 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:90879792
(GRCh38)
14:91346136
(GRCh37)
- Canonical SPDI:
- NC_000014.9:90879781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:90879781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:90879781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:90879781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:90879781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:90879781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:90879781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:90879781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:90879781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:90879781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:90879781:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.90879792_90879800del, NC_000014.9:g.90879793_90879800del, NC_000014.9:g.90879794_90879800del, NC_000014.9:g.90879795_90879800del, NC_000014.9:g.90879796_90879800del, NC_000014.9:g.90879797_90879800del, NC_000014.9:g.90879798_90879800del, NC_000014.9:g.90879799_90879800del, NC_000014.9:g.90879800del, NC_000014.9:g.90879800dup, NC_000014.9:g.90879799_90879800dup, NC_000014.8:g.91346136_91346144del, NC_000014.8:g.91346137_91346144del, NC_000014.8:g.91346138_91346144del, NC_000014.8:g.91346139_91346144del, NC_000014.8:g.91346140_91346144del, NC_000014.8:g.91346141_91346144del, NC_000014.8:g.91346142_91346144del, NC_000014.8:g.91346143_91346144del, NC_000014.8:g.91346144del, NC_000014.8:g.91346144dup, NC_000014.8:g.91346143_91346144dup
16.
rs1491428194 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- 14:90926663
(GRCh38)
14:91393008
(GRCh37)
- Canonical SPDI:
- NC_000014.9:90926663:AG:AGAG
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAG=0./0
(
ALFA)
AG=0.00003/2
(GnomAD)
- HGVS:
17.
rs1491428129 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:91020534
(GRCh38)
14:91486878
(GRCh37)
- Canonical SPDI:
- NC_000014.9:91020533:CT:
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00049/8
(
ALFA)
-=0.00352/257
(GnomAD)
-=0.01182/7
(NorthernSweden)
- HGVS:
18.
rs1491427505 has merged into rs201932768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 14:91062612
(GRCh38)
14:91528956
(GRCh37)
- Canonical SPDI:
- NC_000014.9:91062610:AAA:A,NC_000014.9:91062610:AAA:AA,NC_000014.9:91062610:AAA:AAAA
- Gene:
- RPS6KA5 (Varview), DGLUCY (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
19.
rs1491405845 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:90925941
(GRCh38)
14:91392285
(GRCh37)
- Canonical SPDI:
- NC_000014.9:90925940:CA:
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01374/163
(
ALFA)
-=0.00468/8
(Korea1K)
-=0.00614/82
(GnomAD)
-=0.00921/143
(TOMMO)
- HGVS:
20.
rs1491393020 has merged into rs71461930 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA>-,GAAAGAAA,GAAAGAAAGAAA,GAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
[Show Flanks]
- Chromosome:
- 14:91044413
(GRCh38)
14:91510757
(GRCh37)
- Canonical SPDI:
- NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA,NC_000014.9:91044392:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
- Gene:
- RPS6KA5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAAGAAAGAAAGAAAGAAAGAAAGAAA=0./0
(
ALFA)
-=0.125/5
(GENOME_DK)
- HGVS:
NC_000014.9:g.91044393GAAA[5], NC_000014.9:g.91044393GAAA[7], NC_000014.9:g.91044393GAAA[8], NC_000014.9:g.91044393GAAA[9], NC_000014.9:g.91044393GAAA[10], NC_000014.9:g.91044393GAAA[11], NC_000014.9:g.91044393GAAA[12], NC_000014.9:g.91044393GAAA[13], NC_000014.9:g.91044393GAAA[15], NC_000014.9:g.91044393GAAA[16], NC_000014.9:g.91044393GAAA[17], NC_000014.9:g.91044393GAAA[18], NC_000014.9:g.91044393GAAA[19], NC_000014.9:g.91044393GAAA[20], NC_000014.8:g.91510737GAAA[5], NC_000014.8:g.91510737GAAA[7], NC_000014.8:g.91510737GAAA[8], NC_000014.8:g.91510737GAAA[9], NC_000014.8:g.91510737GAAA[10], NC_000014.8:g.91510737GAAA[11], NC_000014.8:g.91510737GAAA[12], NC_000014.8:g.91510737GAAA[13], NC_000014.8:g.91510737GAAA[15], NC_000014.8:g.91510737GAAA[16], NC_000014.8:g.91510737GAAA[17], NC_000014.8:g.91510737GAAA[18], NC_000014.8:g.91510737GAAA[19], NC_000014.8:g.91510737GAAA[20]