Links from Gene
Items: 1 to 20 of 1000
1.
rs1491533616 has merged into rs529752332 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:65151465
(GRCh38)
15:65443803
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65151456:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CLPX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAA=0.1/4
(GENOME_DK)
-=0.1781/892
(1000Genomes)
- HGVS:
NC_000015.10:g.65151465_65151480del, NC_000015.10:g.65151467_65151480del, NC_000015.10:g.65151468_65151480del, NC_000015.10:g.65151469_65151480del, NC_000015.10:g.65151470_65151480del, NC_000015.10:g.65151471_65151480del, NC_000015.10:g.65151472_65151480del, NC_000015.10:g.65151473_65151480del, NC_000015.10:g.65151474_65151480del, NC_000015.10:g.65151475_65151480del, NC_000015.10:g.65151476_65151480del, NC_000015.10:g.65151477_65151480del, NC_000015.10:g.65151478_65151480del, NC_000015.10:g.65151479_65151480del, NC_000015.10:g.65151480del, NC_000015.10:g.65151480dup, NC_000015.10:g.65151479_65151480dup, NC_000015.10:g.65151478_65151480dup, NC_000015.10:g.65151477_65151480dup, NC_000015.10:g.65151476_65151480dup, NC_000015.10:g.65151475_65151480dup, NC_000015.10:g.65151474_65151480dup, NC_000015.10:g.65151472_65151480dup, NC_000015.10:g.65151471_65151480dup, NC_000015.10:g.65151470_65151480dup, NC_000015.9:g.65443803_65443818del, NC_000015.9:g.65443805_65443818del, NC_000015.9:g.65443806_65443818del, NC_000015.9:g.65443807_65443818del, NC_000015.9:g.65443808_65443818del, NC_000015.9:g.65443809_65443818del, NC_000015.9:g.65443810_65443818del, NC_000015.9:g.65443811_65443818del, NC_000015.9:g.65443812_65443818del, NC_000015.9:g.65443813_65443818del, NC_000015.9:g.65443814_65443818del, NC_000015.9:g.65443815_65443818del, NC_000015.9:g.65443816_65443818del, NC_000015.9:g.65443817_65443818del, NC_000015.9:g.65443818del, NC_000015.9:g.65443818dup, NC_000015.9:g.65443817_65443818dup, NC_000015.9:g.65443816_65443818dup, NC_000015.9:g.65443815_65443818dup, NC_000015.9:g.65443814_65443818dup, NC_000015.9:g.65443813_65443818dup, NC_000015.9:g.65443812_65443818dup, NC_000015.9:g.65443810_65443818dup, NC_000015.9:g.65443809_65443818dup, NC_000015.9:g.65443808_65443818dup
2.
rs1491525103 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A,AA,TA
[Show Flanks]
- Chromosome:
- 15:65151454
(GRCh38)
15:65443793
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65151454:A:AA,NC_000015.10:65151454:A:AAA,NC_000015.10:65151454:A:ATA
- Gene:
- CLPX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
A=0.00046/12
(TOMMO)
- HGVS:
3.
rs1491509486 has merged into rs1226717522 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTCTCTCTCTCTCTCTC>-,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 15:65160607
(GRCh38)
15:65452945
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000015.10:65160592:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCTCTCTC=0./0
(
ALFA)
-=0.00091/241
(TOPMED)
- HGVS:
NC_000015.10:g.65160593TC[7], NC_000015.10:g.65160593TC[9], NC_000015.10:g.65160593TC[10], NC_000015.10:g.65160593TC[11], NC_000015.10:g.65160593TC[12], NC_000015.10:g.65160593TC[13], NC_000015.10:g.65160593TC[14], NC_000015.10:g.65160593TC[15], NC_000015.10:g.65160593TC[17], NC_000015.10:g.65160593TC[18], NC_000015.10:g.65160593TC[19], NC_000015.10:g.65160593TC[20], NC_000015.10:g.65160593TC[21], NC_000015.10:g.65160593TC[22], NC_000015.10:g.65160593TC[23], NC_000015.10:g.65160593TC[24], NC_000015.10:g.65160593TC[25], NC_000015.9:g.65452931TC[7], NC_000015.9:g.65452931TC[9], NC_000015.9:g.65452931TC[10], NC_000015.9:g.65452931TC[11], NC_000015.9:g.65452931TC[12], NC_000015.9:g.65452931TC[13], NC_000015.9:g.65452931TC[14], NC_000015.9:g.65452931TC[15], NC_000015.9:g.65452931TC[17], NC_000015.9:g.65452931TC[18], NC_000015.9:g.65452931TC[19], NC_000015.9:g.65452931TC[20], NC_000015.9:g.65452931TC[21], NC_000015.9:g.65452931TC[22], NC_000015.9:g.65452931TC[23], NC_000015.9:g.65452931TC[24], NC_000015.9:g.65452931TC[25]
5.
rs1491409244 has merged into rs61002905 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:65183467
(GRCh38)
15:65475805
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:65183460:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
A=0.4119/2063
(1000Genomes)
- HGVS:
NC_000015.10:g.65183467_65183482del, NC_000015.10:g.65183469_65183482del, NC_000015.10:g.65183470_65183482del, NC_000015.10:g.65183471_65183482del, NC_000015.10:g.65183472_65183482del, NC_000015.10:g.65183473_65183482del, NC_000015.10:g.65183474_65183482del, NC_000015.10:g.65183475_65183482del, NC_000015.10:g.65183476_65183482del, NC_000015.10:g.65183477_65183482del, NC_000015.10:g.65183478_65183482del, NC_000015.10:g.65183479_65183482del, NC_000015.10:g.65183480_65183482del, NC_000015.10:g.65183481_65183482del, NC_000015.10:g.65183482del, NC_000015.10:g.65183482dup, NC_000015.10:g.65183481_65183482dup, NC_000015.10:g.65183480_65183482dup, NC_000015.10:g.65183479_65183482dup, NC_000015.10:g.65183478_65183482dup, NC_000015.10:g.65183477_65183482dup, NC_000015.10:g.65183476_65183482dup, NC_000015.10:g.65183475_65183482dup, NC_000015.10:g.65183474_65183482dup, NC_000015.10:g.65183473_65183482dup, NC_000015.10:g.65183472_65183482dup, NC_000015.10:g.65183471_65183482dup, NC_000015.10:g.65183470_65183482dup, NC_000015.10:g.65183469_65183482dup, NC_000015.10:g.65183468_65183482dup, NC_000015.10:g.65183467_65183482dup, NC_000015.10:g.65183466_65183482dup, NC_000015.10:g.65183463_65183482dup, NC_000015.10:g.65183482_65183483insAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.65183482_65183483insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.65183461_65183482A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000015.9:g.65475805_65475820del, NC_000015.9:g.65475807_65475820del, NC_000015.9:g.65475808_65475820del, NC_000015.9:g.65475809_65475820del, NC_000015.9:g.65475810_65475820del, NC_000015.9:g.65475811_65475820del, NC_000015.9:g.65475812_65475820del, NC_000015.9:g.65475813_65475820del, NC_000015.9:g.65475814_65475820del, NC_000015.9:g.65475815_65475820del, NC_000015.9:g.65475816_65475820del, NC_000015.9:g.65475817_65475820del, NC_000015.9:g.65475818_65475820del, NC_000015.9:g.65475819_65475820del, NC_000015.9:g.65475820del, NC_000015.9:g.65475820dup, NC_000015.9:g.65475819_65475820dup, NC_000015.9:g.65475818_65475820dup, NC_000015.9:g.65475817_65475820dup, NC_000015.9:g.65475816_65475820dup, NC_000015.9:g.65475815_65475820dup, NC_000015.9:g.65475814_65475820dup, NC_000015.9:g.65475813_65475820dup, NC_000015.9:g.65475812_65475820dup, NC_000015.9:g.65475811_65475820dup, NC_000015.9:g.65475810_65475820dup, NC_000015.9:g.65475809_65475820dup, NC_000015.9:g.65475808_65475820dup, NC_000015.9:g.65475807_65475820dup, NC_000015.9:g.65475806_65475820dup, NC_000015.9:g.65475805_65475820dup, NC_000015.9:g.65475804_65475820dup, NC_000015.9:g.65475801_65475820dup, NC_000015.9:g.65475820_65475821insAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.65475820_65475821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.65475799_65475820A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1491383289 has merged into rs749248279 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:65170831
(GRCh38)
15:65463169
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:65170822:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.65170831_65170840del, NC_000015.10:g.65170833_65170840del, NC_000015.10:g.65170834_65170840del, NC_000015.10:g.65170835_65170840del, NC_000015.10:g.65170836_65170840del, NC_000015.10:g.65170838_65170840del, NC_000015.10:g.65170839_65170840del, NC_000015.10:g.65170840del, NC_000015.10:g.65170840dup, NC_000015.10:g.65170839_65170840dup, NC_000015.10:g.65170838_65170840dup, NC_000015.10:g.65170837_65170840dup, NC_000015.10:g.65170836_65170840dup, NC_000015.10:g.65170835_65170840dup, NC_000015.10:g.65170834_65170840dup, NC_000015.10:g.65170833_65170840dup, NC_000015.10:g.65170831_65170840dup, NC_000015.10:g.65170830_65170840dup, NC_000015.9:g.65463169_65463178del, NC_000015.9:g.65463171_65463178del, NC_000015.9:g.65463172_65463178del, NC_000015.9:g.65463173_65463178del, NC_000015.9:g.65463174_65463178del, NC_000015.9:g.65463176_65463178del, NC_000015.9:g.65463177_65463178del, NC_000015.9:g.65463178del, NC_000015.9:g.65463178dup, NC_000015.9:g.65463177_65463178dup, NC_000015.9:g.65463176_65463178dup, NC_000015.9:g.65463175_65463178dup, NC_000015.9:g.65463174_65463178dup, NC_000015.9:g.65463173_65463178dup, NC_000015.9:g.65463172_65463178dup, NC_000015.9:g.65463171_65463178dup, NC_000015.9:g.65463169_65463178dup, NC_000015.9:g.65463168_65463178dup
8.
rs1491221811 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TACACA
[Show Flanks]
- Chromosome:
- 15:65160624
(GRCh38)
15:65452963
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65160624:ACACA:ACACATACACA
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACACATACACA=0./0
(
ALFA)
ACACAT=0.00005/2
(GnomAD)
- HGVS:
9.
rs1491193795 has merged into rs9302237 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 15:65186551
(GRCh38)
15:65478889
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65186538:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:65186538:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:65186538:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:65186538:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:65186538:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:65186538:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:65186538:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- CLPX (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0./0
(TWINSUK)
AA=0.0003/1
(ALSPAC)
A=0.1715/859
(1000Genomes)
- HGVS:
NC_000015.10:g.65186551_65186556del, NC_000015.10:g.65186553_65186556del, NC_000015.10:g.65186554_65186556del, NC_000015.10:g.65186555_65186556del, NC_000015.10:g.65186556del, NC_000015.10:g.65186556dup, NC_000015.10:g.65186555_65186556dup, NC_000015.9:g.65478889_65478894del, NC_000015.9:g.65478891_65478894del, NC_000015.9:g.65478892_65478894del, NC_000015.9:g.65478893_65478894del, NC_000015.9:g.65478894del, NC_000015.9:g.65478894dup, NC_000015.9:g.65478893_65478894dup
10.
rs1491158022 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 15:65160592
(GRCh38)
15:65452930
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65160591:TT:
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00692/113
(
ALFA)
-=0.0035/99
(TOMMO)
- HGVS:
11.
rs1490829077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:65176484
(GRCh38)
15:65468822
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65176483:T:C
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490770252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:65161926
(GRCh38)
15:65454264
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65161925:A:G
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
G=0.000008/2
(TOPMED)
A=0.5/1
(SGDP_PRJ)
- HGVS:
13.
rs1490678952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 15:65152552
(GRCh38)
15:65444890
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65152551:G:C,NC_000015.10:65152551:G:T
- Gene:
- CLPX (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000011/2
(GnomAD_exomes)
- HGVS:
14.
rs1490582824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:65165250
(GRCh38)
15:65457588
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65165249:C:T
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
16.
rs1490429984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:65183329
(GRCh38)
15:65475667
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65183328:C:T
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
T=0.000053/14
(TOPMED)
T=0.000684/2
(KOREAN)
- HGVS:
17.
rs1490379467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:65180846
(GRCh38)
15:65473184
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65180845:G:A
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
18.
rs1490378049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:65169524
(GRCh38)
15:65461862
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65169523:G:C
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1490353412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:65182853
(GRCh38)
15:65475191
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65182852:G:C
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
C=0.009346/2
(Vietnamese)
- HGVS:
20.
rs1490352102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:65168675
(GRCh38)
15:65461013
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65168674:C:G
- Gene:
- CLPX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: