Links from Gene
Items: 1 to 20 of 1000
3.
rs1491474926 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 16:20876433
(GRCh38)
16:20887755
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20876432:GA:
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00278/33
(
ALFA)
-=0.00829/711
(GnomAD)
- HGVS:
5.
rs1491328350 has merged into rs34275241 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:20880615
(GRCh38)
16:20891937
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:20880604:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.20880615_20880629del, NC_000016.10:g.20880617_20880629del, NC_000016.10:g.20880618_20880629del, NC_000016.10:g.20880619_20880629del, NC_000016.10:g.20880620_20880629del, NC_000016.10:g.20880621_20880629del, NC_000016.10:g.20880622_20880629del, NC_000016.10:g.20880623_20880629del, NC_000016.10:g.20880624_20880629del, NC_000016.10:g.20880625_20880629del, NC_000016.10:g.20880626_20880629del, NC_000016.10:g.20880627_20880629del, NC_000016.10:g.20880628_20880629del, NC_000016.10:g.20880629del, NC_000016.10:g.20880629dup, NC_000016.10:g.20880628_20880629dup, NC_000016.10:g.20880627_20880629dup, NC_000016.10:g.20880626_20880629dup, NC_000016.10:g.20880625_20880629dup, NC_000016.10:g.20880624_20880629dup, NC_000016.10:g.20880623_20880629dup, NC_000016.10:g.20880622_20880629dup, NC_000016.10:g.20880621_20880629dup, NC_000016.10:g.20880620_20880629dup, NC_000016.10:g.20880619_20880629dup, NC_000016.10:g.20880618_20880629dup, NC_000016.10:g.20880617_20880629dup, NC_000016.10:g.20880616_20880629dup, NC_000016.10:g.20880615_20880629dup, NC_000016.10:g.20880614_20880629dup, NC_000016.10:g.20880613_20880629dup, NC_000016.10:g.20880611_20880629dup, NC_000016.10:g.20880610_20880629dup, NC_000016.10:g.20880609_20880629dup, NC_000016.10:g.20880608_20880629dup, NC_000016.10:g.20880607_20880629dup, NC_000016.10:g.20880605_20880629dup, NC_000016.10:g.20880629_20880630insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20880629_20880630insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20880629_20880630insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20880629_20880630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20880629_20880630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20880629_20880630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20880629_20880630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20880629_20880630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20880629_20880630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.20880605_20880629A[40]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.20880605_20880629A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.20880605_20880629A[27]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.20880605_20880629A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.20880605_20880629A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.20891937_20891951del, NC_000016.9:g.20891939_20891951del, NC_000016.9:g.20891940_20891951del, NC_000016.9:g.20891941_20891951del, NC_000016.9:g.20891942_20891951del, NC_000016.9:g.20891943_20891951del, NC_000016.9:g.20891944_20891951del, NC_000016.9:g.20891945_20891951del, NC_000016.9:g.20891946_20891951del, NC_000016.9:g.20891947_20891951del, NC_000016.9:g.20891948_20891951del, NC_000016.9:g.20891949_20891951del, NC_000016.9:g.20891950_20891951del, NC_000016.9:g.20891951del, NC_000016.9:g.20891951dup, NC_000016.9:g.20891950_20891951dup, NC_000016.9:g.20891949_20891951dup, NC_000016.9:g.20891948_20891951dup, NC_000016.9:g.20891947_20891951dup, NC_000016.9:g.20891946_20891951dup, NC_000016.9:g.20891945_20891951dup, NC_000016.9:g.20891944_20891951dup, NC_000016.9:g.20891943_20891951dup, NC_000016.9:g.20891942_20891951dup, NC_000016.9:g.20891941_20891951dup, NC_000016.9:g.20891940_20891951dup, NC_000016.9:g.20891939_20891951dup, NC_000016.9:g.20891938_20891951dup, NC_000016.9:g.20891937_20891951dup, NC_000016.9:g.20891936_20891951dup, NC_000016.9:g.20891935_20891951dup, NC_000016.9:g.20891933_20891951dup, NC_000016.9:g.20891932_20891951dup, NC_000016.9:g.20891931_20891951dup, NC_000016.9:g.20891930_20891951dup, NC_000016.9:g.20891929_20891951dup, NC_000016.9:g.20891927_20891951dup, NC_000016.9:g.20891951_20891952insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20891951_20891952insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20891951_20891952insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20891951_20891952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20891951_20891952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20891951_20891952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20891951_20891952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20891951_20891952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20891951_20891952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.20891927_20891951A[40]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.20891927_20891951A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.20891927_20891951A[27]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.20891927_20891951A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.20891927_20891951A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1491325426 has merged into rs34484157 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 16:20886076
(GRCh38)
16:20897398
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20886064:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:20886064:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:20886064:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:20886064:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:20886064:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:20886064:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:20886064:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:20886064:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.2665/988
(TWINSUK)
-=0.2748/1059
(ALSPAC)
A=0.3259/1632
(1000Genomes)
- HGVS:
NC_000016.10:g.20886076_20886078del, NC_000016.10:g.20886077_20886078del, NC_000016.10:g.20886078del, NC_000016.10:g.20886078dup, NC_000016.10:g.20886077_20886078dup, NC_000016.10:g.20886076_20886078dup, NC_000016.10:g.20886075_20886078dup, NC_000016.10:g.20886074_20886078dup, NC_000016.9:g.20897398_20897400del, NC_000016.9:g.20897399_20897400del, NC_000016.9:g.20897400del, NC_000016.9:g.20897400dup, NC_000016.9:g.20897399_20897400dup, NC_000016.9:g.20897398_20897400dup, NC_000016.9:g.20897397_20897400dup, NC_000016.9:g.20897396_20897400dup
7.
rs1491201720 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 16:20886063
(GRCh38)
16:20897386
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20886063:G:GG
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.00014/2
(TOMMO)
G=0.00021/16
(GnomAD)
- HGVS:
8.
rs1491129725 has merged into rs35457469 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:20876445
(GRCh38)
16:20887767
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20876433:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:20876433:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:20876433:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:20876433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:20876433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:20876433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3505/204
(NorthernSweden)
A=0.3533/1310
(TWINSUK)
A=0.3612/1392
(ALSPAC)
-=0.3922/1964
(1000Genomes)
A=0.475/19
(GENOME_DK)
- HGVS:
NC_000016.10:g.20876445_20876447del, NC_000016.10:g.20876446_20876447del, NC_000016.10:g.20876447del, NC_000016.10:g.20876447dup, NC_000016.10:g.20876446_20876447dup, NC_000016.10:g.20876440_20876447dup, NC_000016.9:g.20887767_20887769del, NC_000016.9:g.20887768_20887769del, NC_000016.9:g.20887769del, NC_000016.9:g.20887769dup, NC_000016.9:g.20887768_20887769dup, NC_000016.9:g.20887762_20887769dup
9.
rs1491114057 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 16:20880604
(GRCh38)
16:20891926
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20880603:CA:
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00121/30
(TOMMO)
- HGVS:
11.
rs1490909558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:20899084
(GRCh38)
16:20910406
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20899083:G:C
- Gene:
- LYRM1 (Varview), DCUN1D3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
12.
rs1490883556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:20897845
(GRCh38)
16:20909167
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20897844:A:G
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490881286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:20881714
(GRCh38)
16:20893036
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20881713:C:T
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490851647 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGTG>-
[Show Flanks]
- Chromosome:
- 16:20896660
(GRCh38)
16:20907982
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20896657:TGAAGTG:TG
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TG=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
15.
rs1490720934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:20872882
(GRCh38)
16:20884204
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20872881:C:G,NC_000016.10:20872881:C:T
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
G=0.000106/2
(TOMMO)
- HGVS:
16.
rs1490703445 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATAGTA>-
[Show Flanks]
- Chromosome:
- 16:20856334
(GRCh38)
16:20867656
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20856329:AGTATATAGTA:AGTA
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGTA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490600337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:20889316
(GRCh38)
16:20900638
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20889315:T:C
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490484044 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:20881237
(GRCh38)
16:20892559
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20881236:C:T
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490463756 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:20892143
(GRCh38)
16:20903465
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20892142:C:T
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
20.
rs1490421288 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAA>-
[Show Flanks]
- Chromosome:
- 16:20855524
(GRCh38)
16:20866846
(GRCh37)
- Canonical SPDI:
- NC_000016.10:20855519:AGAAGAA:AGAA
- Gene:
- DCUN1D3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS: