Links from Gene
Items: 1 to 20 of 15328
1.
rs1491583188 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:7345101
(GRCh38)
6:7345335
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7345101:T:TT
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
- HGVS:
2.
rs1491560359 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:7388032
(GRCh38)
6:7388265
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7388031:CA:
- Gene:
- RIOK1 (Varview), CAGE1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01172/139
(
ALFA)
-=0.00388/65
(TOMMO)
- HGVS:
3.
rs1491560252 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 6:7333625
(GRCh38)
6:7333858
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7333624:AC:
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.00002/2
(GnomAD)
- HGVS:
4.
rs1491547347 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TAT,TATAT,TATATAT,TATATATAT,TATATATATAT,TCT
[Show Flanks]
- Chromosome:
- 6:7333636
(GRCh38)
6:7333870
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7333636::TAT,NC_000006.12:7333636::TATAT,NC_000006.12:7333636::TATATAT,NC_000006.12:7333636::TATATATAT,NC_000006.12:7333636::TATATATATAT,NC_000006.12:7333636::TCT
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATAT=0./0
(
ALFA)
TCT=0.01667/9
(NorthernSweden)
- HGVS:
NC_000006.12:g.7333636_7333637insTAT, NC_000006.12:g.7333636_7333637insTATAT, NC_000006.12:g.7333636_7333637insTATATAT, NC_000006.12:g.7333636_7333637insTATATATAT, NC_000006.12:g.7333636_7333637insTATATATATAT, NC_000006.12:g.7333636_7333637insTCT, NC_000006.11:g.7333869_7333870insTAT, NC_000006.11:g.7333869_7333870insTATAT, NC_000006.11:g.7333869_7333870insTATATAT, NC_000006.11:g.7333869_7333870insTATATATAT, NC_000006.11:g.7333869_7333870insTATATATATAT, NC_000006.11:g.7333869_7333870insTCT
5.
rs1491507495 has merged into rs1298515594 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG
[Show Flanks]
- Chromosome:
- 6:7347513
(GRCh38)
6:7347746
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7347503:GGGGGGGGGGG:GGGGGGGGG,NC_000006.12:7347503:GGGGGGGGGGG:GGGGGGGGGG,NC_000006.12:7347503:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000006.12:7347503:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000006.12:7347503:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000006.12:7347503:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000006.12:7347503:GGGGGGGGGGG:GGGGGGGGGGGGGGGG
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.7347513_7347514del, NC_000006.12:g.7347514del, NC_000006.12:g.7347514dup, NC_000006.12:g.7347513_7347514dup, NC_000006.12:g.7347512_7347514dup, NC_000006.12:g.7347511_7347514dup, NC_000006.12:g.7347510_7347514dup, NC_000006.11:g.7347746_7347747del, NC_000006.11:g.7347747del, NC_000006.11:g.7347747dup, NC_000006.11:g.7347746_7347747dup, NC_000006.11:g.7347745_7347747dup, NC_000006.11:g.7347744_7347747dup, NC_000006.11:g.7347743_7347747dup
6.
rs1491493714 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCTA,TCTATCTA
[Show Flanks]
- Chromosome:
- 6:7333625
(GRCh38)
6:7333859
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7333625:CTATCTATCTA:CTATCTATCTATCTA,NC_000006.12:7333625:CTATCTATCTA:CTATCTATCTATCTATCTA
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTATCTATCTATCTATCTA=0./0
(
ALFA)
- HGVS:
7.
rs1491488344 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA,AATA,AATATA,AATATATA,AATATATATA,AATATATATATA,AATATATATATATA,AATATATATATATATA,AATATATATATATATATA,AATATATATATATATATATA,AATTATATATA,TATATA
[Show Flanks]
- Chromosome:
- 6:7358025
(GRCh38)
6:7358259
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7358025:A:AAA,NC_000006.12:7358025:A:AAATA,NC_000006.12:7358025:A:AAATATA,NC_000006.12:7358025:A:AAATATATA,NC_000006.12:7358025:A:AAATATATATA,NC_000006.12:7358025:A:AAATATATATATA,NC_000006.12:7358025:A:AAATATATATATATA,NC_000006.12:7358025:A:AAATATATATATATATA,NC_000006.12:7358025:A:AAATATATATATATATATA,NC_000006.12:7358025:A:AAATATATATATATATATATA,NC_000006.12:7358025:A:AAATTATATATA,NC_000006.12:7358025:A:ATATATA
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAATA=0./0
(
ALFA)
AAAT=0.00184/1
(NorthernSweden)
- HGVS:
NC_000006.12:g.7358026_7358027insAA, NC_000006.12:g.7358026_7358027insAATA, NC_000006.12:g.7358026_7358027insAATATA, NC_000006.12:g.7358026_7358027insAATATATA, NC_000006.12:g.7358026_7358027insAATATATATA, NC_000006.12:g.7358026_7358027insAATATATATATA, NC_000006.12:g.7358026_7358027insAATATATATATATA, NC_000006.12:g.7358026_7358027insAATATATATATATATA, NC_000006.12:g.7358026_7358027insAATATATATATATATATA, NC_000006.12:g.7358026_7358027insAATATATATATATATATATA, NC_000006.12:g.7358026_7358027insAATTATATATA, NC_000006.12:g.7358027TA[3], NC_000006.11:g.7358259_7358260insAA, NC_000006.11:g.7358259_7358260insAATA, NC_000006.11:g.7358259_7358260insAATATA, NC_000006.11:g.7358259_7358260insAATATATA, NC_000006.11:g.7358259_7358260insAATATATATA, NC_000006.11:g.7358259_7358260insAATATATATATA, NC_000006.11:g.7358259_7358260insAATATATATATATA, NC_000006.11:g.7358259_7358260insAATATATATATATATA, NC_000006.11:g.7358259_7358260insAATATATATATATATATA, NC_000006.11:g.7358259_7358260insAATATATATATATATATATA, NC_000006.11:g.7358259_7358260insAATTATATATA, NC_000006.11:g.7358260TA[3]
8.
rs1491485908 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 6:7337325
(GRCh38)
6:7337558
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7337324:GA:
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00025/3
(
ALFA)
-=0.00028/8
(TOMMO)
- HGVS:
9.
rs1491386617 has merged into rs1261184477 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA,GAGAGA,GAGAGAGA
[Show Flanks]
- Chromosome:
- 6:7358027
(GRCh38)
6:7358260
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7358024:GAGA:GA,NC_000006.12:7358024:GAGA:GAGAGA,NC_000006.12:7358024:GAGA:GAGAGAGA,NC_000006.12:7358024:GAGA:GAGAGAGAGA
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGA=0./0
(
ALFA)
-=0.00007/1
(TOMMO)
-=0.00131/2
(Korea1K)
-=0.00156/10
(1000Genomes)
- HGVS:
10.
rs1491383585 has merged into rs869241612 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:7328944
(GRCh38)
6:7329177
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:7328934:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.7328944_7328949del, NC_000006.12:g.7328945_7328949del, NC_000006.12:g.7328946_7328949del, NC_000006.12:g.7328947_7328949del, NC_000006.12:g.7328948_7328949del, NC_000006.12:g.7328949del, NC_000006.12:g.7328949dup, NC_000006.12:g.7328948_7328949dup, NC_000006.12:g.7328947_7328949dup, NC_000006.12:g.7328946_7328949dup, NC_000006.12:g.7328945_7328949dup, NC_000006.12:g.7328944_7328949dup, NC_000006.12:g.7328943_7328949dup, NC_000006.12:g.7328942_7328949dup, NC_000006.12:g.7328941_7328949dup, NC_000006.11:g.7329177_7329182del, NC_000006.11:g.7329178_7329182del, NC_000006.11:g.7329179_7329182del, NC_000006.11:g.7329180_7329182del, NC_000006.11:g.7329181_7329182del, NC_000006.11:g.7329182del, NC_000006.11:g.7329182dup, NC_000006.11:g.7329181_7329182dup, NC_000006.11:g.7329180_7329182dup, NC_000006.11:g.7329179_7329182dup, NC_000006.11:g.7329178_7329182dup, NC_000006.11:g.7329177_7329182dup, NC_000006.11:g.7329176_7329182dup, NC_000006.11:g.7329175_7329182dup, NC_000006.11:g.7329174_7329182dup
11.
rs1491370493 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:7349966
(GRCh38)
6:7350200
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7349966:G:GG
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1491356798 has merged into rs55850429 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 6:7358036
(GRCh38)
6:7358269
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:7358027:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.7358028AT[4], NC_000006.12:g.7358028AT[5], NC_000006.12:g.7358028AT[6], NC_000006.12:g.7358028AT[7], NC_000006.12:g.7358028AT[8], NC_000006.12:g.7358028AT[9], NC_000006.12:g.7358028AT[10], NC_000006.12:g.7358028AT[11], NC_000006.12:g.7358028AT[12], NC_000006.12:g.7358028AT[13], NC_000006.12:g.7358028AT[14], NC_000006.12:g.7358028AT[15], NC_000006.12:g.7358028AT[16], NC_000006.12:g.7358028AT[17], NC_000006.12:g.7358028AT[18], NC_000006.12:g.7358028AT[19], NC_000006.12:g.7358028AT[20], NC_000006.12:g.7358028AT[21], NC_000006.12:g.7358028AT[23], NC_000006.12:g.7358028AT[24], NC_000006.12:g.7358028AT[25], NC_000006.12:g.7358028AT[26], NC_000006.12:g.7358028AT[27], NC_000006.12:g.7358028AT[28], NC_000006.12:g.7358028AT[29], NC_000006.12:g.7358028AT[30], NC_000006.12:g.7358028AT[31], NC_000006.12:g.7358028AT[32], NC_000006.12:g.7358028AT[33], NC_000006.12:g.7358028AT[34], NC_000006.12:g.7358028AT[44], NC_000006.11:g.7358261AT[4], NC_000006.11:g.7358261AT[5], NC_000006.11:g.7358261AT[6], NC_000006.11:g.7358261AT[7], NC_000006.11:g.7358261AT[8], NC_000006.11:g.7358261AT[9], NC_000006.11:g.7358261AT[10], NC_000006.11:g.7358261AT[11], NC_000006.11:g.7358261AT[12], NC_000006.11:g.7358261AT[13], NC_000006.11:g.7358261AT[14], NC_000006.11:g.7358261AT[15], NC_000006.11:g.7358261AT[16], NC_000006.11:g.7358261AT[17], NC_000006.11:g.7358261AT[18], NC_000006.11:g.7358261AT[19], NC_000006.11:g.7358261AT[20], NC_000006.11:g.7358261AT[21], NC_000006.11:g.7358261AT[23], NC_000006.11:g.7358261AT[24], NC_000006.11:g.7358261AT[25], NC_000006.11:g.7358261AT[26], NC_000006.11:g.7358261AT[27], NC_000006.11:g.7358261AT[28], NC_000006.11:g.7358261AT[29], NC_000006.11:g.7358261AT[30], NC_000006.11:g.7358261AT[31], NC_000006.11:g.7358261AT[32], NC_000006.11:g.7358261AT[33], NC_000006.11:g.7358261AT[34], NC_000006.11:g.7358261AT[44]
13.
rs1491314282 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 6:7346291
(GRCh38)
6:7346524
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7346289:CAC:C
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000035/1
(TOMMO)
-=0.000312/2
(1000Genomes)
- HGVS:
14.
rs1491284615 has merged into rs58144720 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:7337337
(GRCh38)
6:7337570
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7337325:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.7337337_7337346del, NC_000006.12:g.7337339_7337346del, NC_000006.12:g.7337340_7337346del, NC_000006.12:g.7337341_7337346del, NC_000006.12:g.7337342_7337346del, NC_000006.12:g.7337343_7337346del, NC_000006.12:g.7337344_7337346del, NC_000006.12:g.7337345_7337346del, NC_000006.12:g.7337346del, NC_000006.12:g.7337346dup, NC_000006.12:g.7337345_7337346dup, NC_000006.12:g.7337344_7337346dup, NC_000006.12:g.7337343_7337346dup, NC_000006.12:g.7337342_7337346dup, NC_000006.12:g.7337341_7337346dup, NC_000006.12:g.7337340_7337346dup, NC_000006.12:g.7337339_7337346dup, NC_000006.12:g.7337336_7337346dup, NC_000006.12:g.7337326_7337346dup, NC_000006.12:g.7337346_7337347insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.7337570_7337579del, NC_000006.11:g.7337572_7337579del, NC_000006.11:g.7337573_7337579del, NC_000006.11:g.7337574_7337579del, NC_000006.11:g.7337575_7337579del, NC_000006.11:g.7337576_7337579del, NC_000006.11:g.7337577_7337579del, NC_000006.11:g.7337578_7337579del, NC_000006.11:g.7337579del, NC_000006.11:g.7337579dup, NC_000006.11:g.7337578_7337579dup, NC_000006.11:g.7337577_7337579dup, NC_000006.11:g.7337576_7337579dup, NC_000006.11:g.7337575_7337579dup, NC_000006.11:g.7337574_7337579dup, NC_000006.11:g.7337573_7337579dup, NC_000006.11:g.7337572_7337579dup, NC_000006.11:g.7337569_7337579dup, NC_000006.11:g.7337559_7337579dup, NC_000006.11:g.7337579_7337580insAAAAAAAAAAAAAAAAAAAAAA
15.
rs1491260161 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTATATATATAT,GTATGTATATATATAT
[Show Flanks]
- Chromosome:
- 6:7358028
(GRCh38)
6:7358262
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7358028:TATATATATAT:TATATATATATGTATATATATAT,NC_000006.12:7358028:TATATATATAT:TATATATATATGTATGTATATATATAT
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATATATATGTATATATATAT=0.00008/1
(
ALFA)
TATATATATATG=0.00457/282
(GnomAD)
- HGVS:
16.
rs1491250679 has merged into rs70978963 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:7388042
(GRCh38)
6:7388275
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:7388032:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RIOK1 (Varview), CAGE1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.4593/2300
(1000Genomes)
- HGVS:
NC_000006.12:g.7388042_7388055del, NC_000006.12:g.7388043_7388055del, NC_000006.12:g.7388044_7388055del, NC_000006.12:g.7388045_7388055del, NC_000006.12:g.7388046_7388055del, NC_000006.12:g.7388050_7388055del, NC_000006.12:g.7388051_7388055del, NC_000006.12:g.7388052_7388055del, NC_000006.12:g.7388053_7388055del, NC_000006.12:g.7388054_7388055del, NC_000006.12:g.7388055del, NC_000006.12:g.7388055dup, NC_000006.12:g.7388054_7388055dup, NC_000006.12:g.7388053_7388055dup, NC_000006.12:g.7388052_7388055dup, NC_000006.12:g.7388051_7388055dup, NC_000006.12:g.7388049_7388055dup, NC_000006.11:g.7388275_7388288del, NC_000006.11:g.7388276_7388288del, NC_000006.11:g.7388277_7388288del, NC_000006.11:g.7388278_7388288del, NC_000006.11:g.7388279_7388288del, NC_000006.11:g.7388283_7388288del, NC_000006.11:g.7388284_7388288del, NC_000006.11:g.7388285_7388288del, NC_000006.11:g.7388286_7388288del, NC_000006.11:g.7388287_7388288del, NC_000006.11:g.7388288del, NC_000006.11:g.7388288dup, NC_000006.11:g.7388287_7388288dup, NC_000006.11:g.7388286_7388288dup, NC_000006.11:g.7388285_7388288dup, NC_000006.11:g.7388284_7388288dup, NC_000006.11:g.7388282_7388288dup
18.
rs1491221546 has merged into rs56766681 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:7351586
(GRCh38)
6:7351819
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7351573:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:7351573:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:7351573:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:7351573:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:7351573:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:7351573:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:7351573:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.7351586_7351587del, NC_000006.12:g.7351587del, NC_000006.12:g.7351587dup, NC_000006.12:g.7351586_7351587dup, NC_000006.12:g.7351585_7351587dup, NC_000006.12:g.7351584_7351587dup, NC_000006.12:g.7351577_7351587dup, NC_000006.11:g.7351819_7351820del, NC_000006.11:g.7351820del, NC_000006.11:g.7351820dup, NC_000006.11:g.7351819_7351820dup, NC_000006.11:g.7351818_7351820dup, NC_000006.11:g.7351817_7351820dup, NC_000006.11:g.7351810_7351820dup
19.
rs1491209242 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 6:7349967
(GRCh38)
6:7350200
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7349965:AGA:A
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
- HGVS:
20.
rs1491197787 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:7346290
(GRCh38)
6:7346524
(GRCh37)
- Canonical SPDI:
- NC_000006.12:7346290:A:AA
- Gene:
- CAGE1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.000071/1
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000053/14
(TOPMED)
- HGVS: