Links from Gene
Items: 1 to 20 of 1000
1.
rs1491579990 has merged into rs71446373 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:69148112
(GRCh38)
14:69614829
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69148102:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.69148112_69148121del, NC_000014.9:g.69148114_69148121del, NC_000014.9:g.69148115_69148121del, NC_000014.9:g.69148117_69148121del, NC_000014.9:g.69148118_69148121del, NC_000014.9:g.69148119_69148121del, NC_000014.9:g.69148120_69148121del, NC_000014.9:g.69148121del, NC_000014.9:g.69148121dup, NC_000014.9:g.69148120_69148121dup, NC_000014.9:g.69148119_69148121dup, NC_000014.9:g.69148116_69148121dup, NC_000014.9:g.69148115_69148121dup, NC_000014.9:g.69148103_69148121A[21]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.69614829_69614838del, NC_000014.8:g.69614831_69614838del, NC_000014.8:g.69614832_69614838del, NC_000014.8:g.69614834_69614838del, NC_000014.8:g.69614835_69614838del, NC_000014.8:g.69614836_69614838del, NC_000014.8:g.69614837_69614838del, NC_000014.8:g.69614838del, NC_000014.8:g.69614838dup, NC_000014.8:g.69614837_69614838dup, NC_000014.8:g.69614836_69614838dup, NC_000014.8:g.69614833_69614838dup, NC_000014.8:g.69614832_69614838dup, NC_000014.8:g.69614820_69614838A[21]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
2.
rs1491524316 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:69084058
(GRCh38)
14:69550776
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69084058::C
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491502912 has merged into rs33936553 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA
[Show Flanks]
- Chromosome:
- 14:69119717
(GRCh38)
14:69586434
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69119704:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:69119704:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:69119704:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:69119704:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.3305/1655
(1000Genomes)
-=0.362/1395
(ALSPAC)
- HGVS:
4.
rs1491479494 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 14:69097583
(GRCh38)
14:69564301
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69097583:T:TAT
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0.00008/1
(
ALFA)
TA=0.00009/5
(GnomAD)
- HGVS:
5.
rs1491454608 has merged into rs554746869 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 14:69128205
(GRCh38)
14:69594922
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69128193:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:69128193:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:69128193:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:69128193:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:69128193:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:69128193:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:69128193:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:69128193:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.04667/28
(NorthernSweden)
- HGVS:
NC_000014.9:g.69128205_69128208del, NC_000014.9:g.69128206_69128208del, NC_000014.9:g.69128207_69128208del, NC_000014.9:g.69128208del, NC_000014.9:g.69128208dup, NC_000014.9:g.69128207_69128208dup, NC_000014.9:g.69128206_69128208dup, NC_000014.9:g.69128205_69128208dup, NC_000014.8:g.69594922_69594925del, NC_000014.8:g.69594923_69594925del, NC_000014.8:g.69594924_69594925del, NC_000014.8:g.69594925del, NC_000014.8:g.69594925dup, NC_000014.8:g.69594924_69594925dup, NC_000014.8:g.69594923_69594925dup, NC_000014.8:g.69594922_69594925dup
6.
rs1491427932 has merged into rs71102626 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA,CACACACA,CACACACACA
[Show Flanks]
- Chromosome:
- 14:69095562
(GRCh38)
14:69562279
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69095550:ACACACACACACACA:ACACACACACA,NC_000014.9:69095550:ACACACACACACACA:ACACACACACACA,NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACA,NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACACA,NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACACACA
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
-=0.08884/1489
(TOMMO)
AC=0.2986/298
(GoNL)
AC=0.35022/1569
(Estonian)
AC=0.375/15
(GENOME_DK)
AC=0.38667/232
(NorthernSweden)
AC=0.42712/2139
(1000Genomes)
- HGVS:
9.
rs1491380354 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:69128193
(GRCh38)
14:69594910
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69128191:TCT:T
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
11.
rs1491220859 has merged into rs60913200 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACACACACACACA>-,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 14:69099263
(GRCh38)
14:69565980
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69099251:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACA=0./0
(
ALFA)
-=0.471/2359
(1000Genomes)
- HGVS:
NC_000014.9:g.69099253CA[5], NC_000014.9:g.69099253CA[10], NC_000014.9:g.69099253CA[11], NC_000014.9:g.69099253CA[12], NC_000014.9:g.69099253CA[13], NC_000014.9:g.69099253CA[14], NC_000014.9:g.69099253CA[15], NC_000014.9:g.69099253CA[16], NC_000014.9:g.69099253CA[17], NC_000014.9:g.69099253CA[18], NC_000014.9:g.69099253CA[19], NC_000014.9:g.69099253CA[20], NC_000014.9:g.69099253CA[21], NC_000014.9:g.69099253CA[22], NC_000014.9:g.69099253CA[23], NC_000014.9:g.69099253CA[25], NC_000014.9:g.69099253CA[26], NC_000014.9:g.69099253CA[27], NC_000014.9:g.69099253CA[28], NC_000014.9:g.69099253CA[29], NC_000014.9:g.69099253CA[30], NC_000014.9:g.69099253CA[31], NC_000014.9:g.69099253CA[32], NC_000014.9:g.69099253CA[33], NC_000014.9:g.69099253CA[34], NC_000014.9:g.69099253CA[35], NC_000014.9:g.69099253CA[36], NC_000014.8:g.69565970CA[5], NC_000014.8:g.69565970CA[10], NC_000014.8:g.69565970CA[11], NC_000014.8:g.69565970CA[12], NC_000014.8:g.69565970CA[13], NC_000014.8:g.69565970CA[14], NC_000014.8:g.69565970CA[15], NC_000014.8:g.69565970CA[16], NC_000014.8:g.69565970CA[17], NC_000014.8:g.69565970CA[18], NC_000014.8:g.69565970CA[19], NC_000014.8:g.69565970CA[20], NC_000014.8:g.69565970CA[21], NC_000014.8:g.69565970CA[22], NC_000014.8:g.69565970CA[23], NC_000014.8:g.69565970CA[25], NC_000014.8:g.69565970CA[26], NC_000014.8:g.69565970CA[27], NC_000014.8:g.69565970CA[28], NC_000014.8:g.69565970CA[29], NC_000014.8:g.69565970CA[30], NC_000014.8:g.69565970CA[31], NC_000014.8:g.69565970CA[32], NC_000014.8:g.69565970CA[33], NC_000014.8:g.69565970CA[34], NC_000014.8:g.69565970CA[35], NC_000014.8:g.69565970CA[36]
12.
rs1491176143 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 14:69128194
(GRCh38)
14:69594912
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69128194:T:TCT
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0.000084/1
(
ALFA)
TC=0.000225/23
(GnomAD)
- HGVS:
13.
rs1491082975 has merged into rs35501979 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:69098732
(GRCh38)
14:69565449
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69098727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.69098732_69098748del, NC_000014.9:g.69098733_69098748del, NC_000014.9:g.69098738_69098748del, NC_000014.9:g.69098739_69098748del, NC_000014.9:g.69098740_69098748del, NC_000014.9:g.69098741_69098748del, NC_000014.9:g.69098742_69098748del, NC_000014.9:g.69098743_69098748del, NC_000014.9:g.69098744_69098748del, NC_000014.9:g.69098746_69098748del, NC_000014.9:g.69098747_69098748del, NC_000014.9:g.69098748del, NC_000014.9:g.69098748dup, NC_000014.9:g.69098747_69098748dup, NC_000014.9:g.69098746_69098748dup, NC_000014.9:g.69098745_69098748dup, NC_000014.9:g.69098744_69098748dup, NC_000014.9:g.69098743_69098748dup, NC_000014.9:g.69098742_69098748dup, NC_000014.9:g.69098741_69098748dup, NC_000014.9:g.69098740_69098748dup, NC_000014.9:g.69098739_69098748dup, NC_000014.9:g.69098738_69098748dup, NC_000014.9:g.69098737_69098748dup, NC_000014.9:g.69098736_69098748dup, NC_000014.8:g.69565449_69565465del, NC_000014.8:g.69565450_69565465del, NC_000014.8:g.69565455_69565465del, NC_000014.8:g.69565456_69565465del, NC_000014.8:g.69565457_69565465del, NC_000014.8:g.69565458_69565465del, NC_000014.8:g.69565459_69565465del, NC_000014.8:g.69565460_69565465del, NC_000014.8:g.69565461_69565465del, NC_000014.8:g.69565463_69565465del, NC_000014.8:g.69565464_69565465del, NC_000014.8:g.69565465del, NC_000014.8:g.69565465dup, NC_000014.8:g.69565464_69565465dup, NC_000014.8:g.69565463_69565465dup, NC_000014.8:g.69565462_69565465dup, NC_000014.8:g.69565461_69565465dup, NC_000014.8:g.69565460_69565465dup, NC_000014.8:g.69565459_69565465dup, NC_000014.8:g.69565458_69565465dup, NC_000014.8:g.69565457_69565465dup, NC_000014.8:g.69565456_69565465dup, NC_000014.8:g.69565455_69565465dup, NC_000014.8:g.69565454_69565465dup, NC_000014.8:g.69565453_69565465dup
14.
rs1491067525 has merged into rs11458918 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:69131769
(GRCh38)
14:69598486
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:69131759:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
T=0.215017/126
(NorthernSweden)
T=0.275/11
(GENOME_DK)
- HGVS:
NC_000014.9:g.69131769_69131774del, NC_000014.9:g.69131770_69131774del, NC_000014.9:g.69131771_69131774del, NC_000014.9:g.69131772_69131774del, NC_000014.9:g.69131773_69131774del, NC_000014.9:g.69131774del, NC_000014.9:g.69131774dup, NC_000014.9:g.69131773_69131774dup, NC_000014.9:g.69131772_69131774dup, NC_000014.8:g.69598486_69598491del, NC_000014.8:g.69598487_69598491del, NC_000014.8:g.69598488_69598491del, NC_000014.8:g.69598489_69598491del, NC_000014.8:g.69598490_69598491del, NC_000014.8:g.69598491del, NC_000014.8:g.69598491dup, NC_000014.8:g.69598490_69598491dup, NC_000014.8:g.69598489_69598491dup
15.
rs1491046655 has merged into rs3044674 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 14:69112612
(GRCh38)
14:69579329
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000014.9:69112594:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
-=0.4512/1739
(ALSPAC)
- HGVS:
NC_000014.9:g.69112596CA[8], NC_000014.9:g.69112596CA[9], NC_000014.9:g.69112596CA[10], NC_000014.9:g.69112596CA[11], NC_000014.9:g.69112596CA[12], NC_000014.9:g.69112596CA[13], NC_000014.9:g.69112596CA[14], NC_000014.9:g.69112596CA[15], NC_000014.9:g.69112596CA[16], NC_000014.9:g.69112596CA[18], NC_000014.9:g.69112596CA[19], NC_000014.9:g.69112596CA[20], NC_000014.9:g.69112596CA[21], NC_000014.9:g.69112596CA[22], NC_000014.9:g.69112596CA[23], NC_000014.9:g.69112596CA[24], NC_000014.9:g.69112596CA[25], NC_000014.9:g.69112596CA[26], NC_000014.9:g.69112596CA[27], NC_000014.9:g.69112596CA[28], NC_000014.9:g.69112596CA[29], NC_000014.9:g.69112596CA[30], NC_000014.8:g.69579313CA[8], NC_000014.8:g.69579313CA[9], NC_000014.8:g.69579313CA[10], NC_000014.8:g.69579313CA[11], NC_000014.8:g.69579313CA[12], NC_000014.8:g.69579313CA[13], NC_000014.8:g.69579313CA[14], NC_000014.8:g.69579313CA[15], NC_000014.8:g.69579313CA[16], NC_000014.8:g.69579313CA[18], NC_000014.8:g.69579313CA[19], NC_000014.8:g.69579313CA[20], NC_000014.8:g.69579313CA[21], NC_000014.8:g.69579313CA[22], NC_000014.8:g.69579313CA[23], NC_000014.8:g.69579313CA[24], NC_000014.8:g.69579313CA[25], NC_000014.8:g.69579313CA[26], NC_000014.8:g.69579313CA[27], NC_000014.8:g.69579313CA[28], NC_000014.8:g.69579313CA[29], NC_000014.8:g.69579313CA[30]
16.
rs1491026326 has merged into rs35359938 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:69136124
(GRCh38)
14:69602841
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69136113:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.69136124_69136132del, NC_000014.9:g.69136125_69136132del, NC_000014.9:g.69136126_69136132del, NC_000014.9:g.69136127_69136132del, NC_000014.9:g.69136128_69136132del, NC_000014.9:g.69136129_69136132del, NC_000014.9:g.69136130_69136132del, NC_000014.9:g.69136131_69136132del, NC_000014.9:g.69136132del, NC_000014.9:g.69136132dup, NC_000014.9:g.69136131_69136132dup, NC_000014.9:g.69136130_69136132dup, NC_000014.9:g.69136129_69136132dup, NC_000014.9:g.69136128_69136132dup, NC_000014.9:g.69136127_69136132dup, NC_000014.9:g.69136126_69136132dup, NC_000014.9:g.69136124_69136132dup, NC_000014.9:g.69136123_69136132dup, NC_000014.9:g.69136122_69136132dup, NC_000014.8:g.69602841_69602849del, NC_000014.8:g.69602842_69602849del, NC_000014.8:g.69602843_69602849del, NC_000014.8:g.69602844_69602849del, NC_000014.8:g.69602845_69602849del, NC_000014.8:g.69602846_69602849del, NC_000014.8:g.69602847_69602849del, NC_000014.8:g.69602848_69602849del, NC_000014.8:g.69602849del, NC_000014.8:g.69602849dup, NC_000014.8:g.69602848_69602849dup, NC_000014.8:g.69602847_69602849dup, NC_000014.8:g.69602846_69602849dup, NC_000014.8:g.69602845_69602849dup, NC_000014.8:g.69602844_69602849dup, NC_000014.8:g.69602843_69602849dup, NC_000014.8:g.69602841_69602849dup, NC_000014.8:g.69602840_69602849dup, NC_000014.8:g.69602839_69602849dup
17.
rs1491021103 has merged into rs141874345 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:69102120
(GRCh38)
14:69568837
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69102107:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.14/701
(1000Genomes)
- HGVS:
NC_000014.9:g.69102120_69102126del, NC_000014.9:g.69102121_69102126del, NC_000014.9:g.69102122_69102126del, NC_000014.9:g.69102123_69102126del, NC_000014.9:g.69102124_69102126del, NC_000014.9:g.69102125_69102126del, NC_000014.9:g.69102126del, NC_000014.9:g.69102126dup, NC_000014.9:g.69102125_69102126dup, NC_000014.9:g.69102124_69102126dup, NC_000014.9:g.69102123_69102126dup, NC_000014.9:g.69102122_69102126dup, NC_000014.9:g.69102120_69102126dup, NC_000014.8:g.69568837_69568843del, NC_000014.8:g.69568838_69568843del, NC_000014.8:g.69568839_69568843del, NC_000014.8:g.69568840_69568843del, NC_000014.8:g.69568841_69568843del, NC_000014.8:g.69568842_69568843del, NC_000014.8:g.69568843del, NC_000014.8:g.69568843dup, NC_000014.8:g.69568842_69568843dup, NC_000014.8:g.69568841_69568843dup, NC_000014.8:g.69568840_69568843dup, NC_000014.8:g.69568839_69568843dup, NC_000014.8:g.69568837_69568843dup
18.
rs1490939962 has merged into rs562355110 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:69143566
(GRCh38)
14:69610283
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69143553:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
NC_000014.9:g.69143566_69143578del, NC_000014.9:g.69143568_69143578del, NC_000014.9:g.69143569_69143578del, NC_000014.9:g.69143570_69143578del, NC_000014.9:g.69143571_69143578del, NC_000014.9:g.69143572_69143578del, NC_000014.9:g.69143573_69143578del, NC_000014.9:g.69143574_69143578del, NC_000014.9:g.69143575_69143578del, NC_000014.9:g.69143576_69143578del, NC_000014.9:g.69143577_69143578del, NC_000014.9:g.69143578del, NC_000014.9:g.69143578dup, NC_000014.9:g.69143577_69143578dup, NC_000014.9:g.69143576_69143578dup, NC_000014.9:g.69143575_69143578dup, NC_000014.9:g.69143574_69143578dup, NC_000014.9:g.69143573_69143578dup, NC_000014.9:g.69143572_69143578dup, NC_000014.9:g.69143569_69143578dup, NC_000014.9:g.69143557_69143578dup, NC_000014.9:g.69143554_69143578T[47]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.69143556_69143578dup, NC_000014.9:g.69143555_69143578dup, NC_000014.8:g.69610283_69610295del, NC_000014.8:g.69610285_69610295del, NC_000014.8:g.69610286_69610295del, NC_000014.8:g.69610287_69610295del, NC_000014.8:g.69610288_69610295del, NC_000014.8:g.69610289_69610295del, NC_000014.8:g.69610290_69610295del, NC_000014.8:g.69610291_69610295del, NC_000014.8:g.69610292_69610295del, NC_000014.8:g.69610293_69610295del, NC_000014.8:g.69610294_69610295del, NC_000014.8:g.69610295del, NC_000014.8:g.69610295dup, NC_000014.8:g.69610294_69610295dup, NC_000014.8:g.69610293_69610295dup, NC_000014.8:g.69610292_69610295dup, NC_000014.8:g.69610291_69610295dup, NC_000014.8:g.69610290_69610295dup, NC_000014.8:g.69610289_69610295dup, NC_000014.8:g.69610286_69610295dup, NC_000014.8:g.69610274_69610295dup, NC_000014.8:g.69610271_69610295T[47]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.69610273_69610295dup, NC_000014.8:g.69610272_69610295dup
19.
rs1490930407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:69098930
(GRCh38)
14:69565647
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69098929:G:A
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00061/10
(
ALFA)
A=0.00055/9
(TOMMO)
A=0.02842/83
(KOREAN)
G=0.5/13
(SGDP_PRJ)
- HGVS:
20.
rs1490887263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:69109338
(GRCh38)
14:69576055
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69109337:C:A
- Gene:
- DCAF5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00154/25
(
ALFA)
A=0.00057/16
(TOMMO)
A=0.09651/282
(KOREAN)
- HGVS: