Links from Gene
Items: 1 to 20 of 1000
1.
rs1491549904 has merged into rs1209127849 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGGG>-,G,GG,GGG,GGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 20:5604620
(GRCh38)
20:5585266
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGG,NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGGG,NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000020.11:5604611:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.5604620_5604624del, NC_000020.11:g.5604621_5604624del, NC_000020.11:g.5604622_5604624del, NC_000020.11:g.5604623_5604624del, NC_000020.11:g.5604624del, NC_000020.11:g.5604624dup, NC_000020.11:g.5604623_5604624dup, NC_000020.11:g.5604622_5604624dup, NC_000020.11:g.5604621_5604624dup, NC_000020.11:g.5604620_5604624dup, NC_000020.11:g.5604619_5604624dup, NC_000020.11:g.5604614_5604624dup, NC_000020.10:g.5585266_5585270del, NC_000020.10:g.5585267_5585270del, NC_000020.10:g.5585268_5585270del, NC_000020.10:g.5585269_5585270del, NC_000020.10:g.5585270del, NC_000020.10:g.5585270dup, NC_000020.10:g.5585269_5585270dup, NC_000020.10:g.5585268_5585270dup, NC_000020.10:g.5585267_5585270dup, NC_000020.10:g.5585266_5585270dup, NC_000020.10:g.5585265_5585270dup, NC_000020.10:g.5585260_5585270dup
2.
rs1491513086 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 20:5598526
(GRCh38)
20:5579172
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5598522:GAGAG:GAG
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAG=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
3.
rs1491490284 has merged into rs201953819 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:5573096
(GRCh38)
20:5553742
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5573086:TTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:5573086:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:5573086:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:5573086:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:5573086:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:5573086:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:5573086:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:5573086:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:5573086:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:5573086:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.2159/1081
(1000Genomes)
- HGVS:
NC_000020.11:g.5573096_5573099del, NC_000020.11:g.5573097_5573099del, NC_000020.11:g.5573098_5573099del, NC_000020.11:g.5573099del, NC_000020.11:g.5573099dup, NC_000020.11:g.5573098_5573099dup, NC_000020.11:g.5573097_5573099dup, NC_000020.11:g.5573096_5573099dup, NC_000020.11:g.5573095_5573099dup, NC_000020.11:g.5573088_5573099dup, NC_000020.10:g.5553742_5553745del, NC_000020.10:g.5553743_5553745del, NC_000020.10:g.5553744_5553745del, NC_000020.10:g.5553745del, NC_000020.10:g.5553745dup, NC_000020.10:g.5553744_5553745dup, NC_000020.10:g.5553743_5553745dup, NC_000020.10:g.5553742_5553745dup, NC_000020.10:g.5553741_5553745dup, NC_000020.10:g.5553734_5553745dup
4.
rs1491480898 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 20:5576108
(GRCh38)
20:5556755
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5576108::A
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00007/1
(
ALFA)
A=0.00007/1
(TOMMO)
A=0.00027/15
(GnomAD)
A=0.0006/1
(Korea1K)
- HGVS:
5.
rs1491469250 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 20:5547385
(GRCh38)
20:5528032
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5547385:T:TT
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000020.11:g.5547386dup, NC_000020.10:g.5528032dup, XM_005260758.6:c.*275dup, XM_005260758.5:c.*275dup, XM_005260758.4:c.*275dup, XM_005260758.3:c.*275dup, XM_005260758.2:c.*275dup, XM_005260758.1:c.*275dup, NM_019593.5:c.*275dup, NM_019593.4:c.*275dup, NM_019593.3:c.*275dup, XM_024451949.2:c.*275dup, XM_024451949.1:c.*275dup, XM_047440310.1:c.*275dup, XM_047440308.1:c.*275dup, XM_047440309.1:c.*275dup, XM_047440311.1:c.*275dup, XM_047440312.1:c.*275dup, XM_047440313.1:c.*275dup
6.
rs1491468911 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 20:5602986
(GRCh38)
20:5583632
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5602985:TA:
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1491376287 has merged into rs772284040 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 20:5576116
(GRCh38)
20:5556762
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5576107:TTTTTTTTTT:TTTTTTTT,NC_000020.11:5576107:TTTTTTTTTT:TTTTTTTTT,NC_000020.11:5576107:TTTTTTTTTT:TTTTTTTTTTT
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.014192/26
(Korea1K)
-=0.026667/16
(NorthernSweden)
-=0.03053/8081
(TOPMED)
-=0.05/2
(GENOME_DK)
- HGVS:
10.
rs1491360550 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 20:5568422
(GRCh38)
20:5549068
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5568421:CT:
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
11.
rs1491343956 has merged into rs11479995 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:5581825
(GRCh38)
20:5562471
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5581814:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTTTTTTTTT=0.1094/548
(1000Genomes)
- HGVS:
NC_000020.11:g.5581825_5581847del, NC_000020.11:g.5581826_5581847del, NC_000020.11:g.5581827_5581847del, NC_000020.11:g.5581828_5581847del, NC_000020.11:g.5581829_5581847del, NC_000020.11:g.5581830_5581847del, NC_000020.11:g.5581831_5581847del, NC_000020.11:g.5581832_5581847del, NC_000020.11:g.5581833_5581847del, NC_000020.11:g.5581834_5581847del, NC_000020.11:g.5581835_5581847del, NC_000020.11:g.5581836_5581847del, NC_000020.11:g.5581837_5581847del, NC_000020.11:g.5581838_5581847del, NC_000020.11:g.5581839_5581847del, NC_000020.11:g.5581840_5581847del, NC_000020.11:g.5581841_5581847del, NC_000020.11:g.5581842_5581847del, NC_000020.11:g.5581843_5581847del, NC_000020.11:g.5581844_5581847del, NC_000020.11:g.5581845_5581847del, NC_000020.11:g.5581846_5581847del, NC_000020.11:g.5581847del, NC_000020.11:g.5581847dup, NC_000020.11:g.5581846_5581847dup, NC_000020.11:g.5581845_5581847dup, NC_000020.11:g.5581844_5581847dup, NC_000020.11:g.5581843_5581847dup, NC_000020.11:g.5581842_5581847dup, NC_000020.11:g.5581841_5581847dup, NC_000020.11:g.5581840_5581847dup, NC_000020.11:g.5581839_5581847dup, NC_000020.11:g.5581838_5581847dup, NC_000020.11:g.5581837_5581847dup, NC_000020.11:g.5581836_5581847dup, NC_000020.11:g.5581835_5581847dup, NC_000020.11:g.5581834_5581847dup, NC_000020.11:g.5581833_5581847dup, NC_000020.11:g.5581832_5581847dup, NC_000020.11:g.5581831_5581847dup, NC_000020.11:g.5581830_5581847dup, NC_000020.11:g.5581829_5581847dup, NC_000020.11:g.5581828_5581847dup, NC_000020.11:g.5581827_5581847dup, NC_000020.11:g.5581826_5581847dup, NC_000020.11:g.5581825_5581847dup, NC_000020.11:g.5581823_5581847dup, NC_000020.11:g.5581822_5581847dup, NC_000020.11:g.5581820_5581847dup, NC_000020.11:g.5581816_5581847dup, NC_000020.11:g.5581847_5581848insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.5562471_5562493del, NC_000020.10:g.5562472_5562493del, NC_000020.10:g.5562473_5562493del, NC_000020.10:g.5562474_5562493del, NC_000020.10:g.5562475_5562493del, NC_000020.10:g.5562476_5562493del, NC_000020.10:g.5562477_5562493del, NC_000020.10:g.5562478_5562493del, NC_000020.10:g.5562479_5562493del, NC_000020.10:g.5562480_5562493del, NC_000020.10:g.5562481_5562493del, NC_000020.10:g.5562482_5562493del, NC_000020.10:g.5562483_5562493del, NC_000020.10:g.5562484_5562493del, NC_000020.10:g.5562485_5562493del, NC_000020.10:g.5562486_5562493del, NC_000020.10:g.5562487_5562493del, NC_000020.10:g.5562488_5562493del, NC_000020.10:g.5562489_5562493del, NC_000020.10:g.5562490_5562493del, NC_000020.10:g.5562491_5562493del, NC_000020.10:g.5562492_5562493del, NC_000020.10:g.5562493del, NC_000020.10:g.5562493dup, NC_000020.10:g.5562492_5562493dup, NC_000020.10:g.5562491_5562493dup, NC_000020.10:g.5562490_5562493dup, NC_000020.10:g.5562489_5562493dup, NC_000020.10:g.5562488_5562493dup, NC_000020.10:g.5562487_5562493dup, NC_000020.10:g.5562486_5562493dup, NC_000020.10:g.5562485_5562493dup, NC_000020.10:g.5562484_5562493dup, NC_000020.10:g.5562483_5562493dup, NC_000020.10:g.5562482_5562493dup, NC_000020.10:g.5562481_5562493dup, NC_000020.10:g.5562480_5562493dup, NC_000020.10:g.5562479_5562493dup, NC_000020.10:g.5562478_5562493dup, NC_000020.10:g.5562477_5562493dup, NC_000020.10:g.5562476_5562493dup, NC_000020.10:g.5562475_5562493dup, NC_000020.10:g.5562474_5562493dup, NC_000020.10:g.5562473_5562493dup, NC_000020.10:g.5562472_5562493dup, NC_000020.10:g.5562471_5562493dup, NC_000020.10:g.5562469_5562493dup, NC_000020.10:g.5562468_5562493dup, NC_000020.10:g.5562466_5562493dup, NC_000020.10:g.5562462_5562493dup, NC_000020.10:g.5562493_5562494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
12.
rs1491309997 has merged into rs35153907 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:5583235
(GRCh38)
20:5563881
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5583225:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.5583235_5583248del, NC_000020.11:g.5583236_5583248del, NC_000020.11:g.5583237_5583248del, NC_000020.11:g.5583238_5583248del, NC_000020.11:g.5583241_5583248del, NC_000020.11:g.5583242_5583248del, NC_000020.11:g.5583243_5583248del, NC_000020.11:g.5583244_5583248del, NC_000020.11:g.5583245_5583248del, NC_000020.11:g.5583246_5583248del, NC_000020.11:g.5583247_5583248del, NC_000020.11:g.5583248del, NC_000020.11:g.5583248dup, NC_000020.11:g.5583247_5583248dup, NC_000020.11:g.5583246_5583248dup, NC_000020.11:g.5583245_5583248dup, NC_000020.11:g.5583244_5583248dup, NC_000020.11:g.5583243_5583248dup, NC_000020.11:g.5583240_5583248dup, NC_000020.11:g.5583239_5583248dup, NC_000020.11:g.5583236_5583248dup, NC_000020.11:g.5583226_5583248dup, NC_000020.10:g.5563881_5563894del, NC_000020.10:g.5563882_5563894del, NC_000020.10:g.5563883_5563894del, NC_000020.10:g.5563884_5563894del, NC_000020.10:g.5563887_5563894del, NC_000020.10:g.5563888_5563894del, NC_000020.10:g.5563889_5563894del, NC_000020.10:g.5563890_5563894del, NC_000020.10:g.5563891_5563894del, NC_000020.10:g.5563892_5563894del, NC_000020.10:g.5563893_5563894del, NC_000020.10:g.5563894del, NC_000020.10:g.5563894dup, NC_000020.10:g.5563893_5563894dup, NC_000020.10:g.5563892_5563894dup, NC_000020.10:g.5563891_5563894dup, NC_000020.10:g.5563890_5563894dup, NC_000020.10:g.5563889_5563894dup, NC_000020.10:g.5563886_5563894dup, NC_000020.10:g.5563885_5563894dup, NC_000020.10:g.5563882_5563894dup, NC_000020.10:g.5563872_5563894dup
14.
rs1491231870 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 20:5573085
(GRCh38)
20:5553732
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5573085:C:CC
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1491223576 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGGG,TGGG
[Show Flanks]
- Chromosome:
- 20:5604612
(GRCh38)
20:5585259
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5604612:GGG:GGGAGGG,NC_000020.11:5604612:GGG:GGGTGGG
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGTGGG=0./0
(
ALFA)
GGGT=0.000004/1
(TOPMED)
- HGVS:
17.
rs1491176111 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 20:5572817
(GRCh38)
20:5553463
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5572815:ATA:A
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.04974/590
(
ALFA)
-=0.01154/186
(TOMMO)
-=0.02873/184
(1000Genomes)
-=0.03209/19
(NorthernSweden)
-=0.06171/5852
(GnomAD)
- HGVS:
19.
rs1491151604 has merged into rs397864689 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:5549765
(GRCh38)
20:5530411
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5549748:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3435/1720
(1000Genomes)
- HGVS:
NC_000020.11:g.5549765_5549771del, NC_000020.11:g.5549766_5549771del, NC_000020.11:g.5549767_5549771del, NC_000020.11:g.5549768_5549771del, NC_000020.11:g.5549769_5549771del, NC_000020.11:g.5549770_5549771del, NC_000020.11:g.5549771del, NC_000020.11:g.5549771dup, NC_000020.11:g.5549770_5549771dup, NC_000020.11:g.5549769_5549771dup, NC_000020.11:g.5549768_5549771dup, NC_000020.11:g.5549771_5549772insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.5549771_5549772insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.5530411_5530417del, NC_000020.10:g.5530412_5530417del, NC_000020.10:g.5530413_5530417del, NC_000020.10:g.5530414_5530417del, NC_000020.10:g.5530415_5530417del, NC_000020.10:g.5530416_5530417del, NC_000020.10:g.5530417del, NC_000020.10:g.5530417dup, NC_000020.10:g.5530416_5530417dup, NC_000020.10:g.5530415_5530417dup, NC_000020.10:g.5530414_5530417dup, NC_000020.10:g.5530417_5530418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.5530417_5530418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
20.
rs1491144862 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 20:5547387
(GRCh38)
20:5528033
(GRCh37)
- Canonical SPDI:
- NC_000020.11:5547384:ATAT:AT
- Gene:
- GPCPD1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAT=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000020.11:g.5547385AT[1], NC_000020.10:g.5528031AT[1], XM_005260758.6:c.*273AT[1], XM_005260758.5:c.*273AT[1], XM_005260758.4:c.*273AT[1], XM_005260758.3:c.*273AT[1], XM_005260758.2:c.*273AT[1], XM_005260758.1:c.*273AT[1], NM_019593.5:c.*273AT[1], NM_019593.4:c.*273AT[1], NM_019593.3:c.*273AT[1], XM_024451949.2:c.*273AT[1], XM_024451949.1:c.*273AT[1], XM_047440310.1:c.*273AT[1], XM_047440308.1:c.*273AT[1], XM_047440309.1:c.*273AT[1], XM_047440311.1:c.*273AT[1], XM_047440312.1:c.*273AT[1], XM_047440313.1:c.*273AT[1]