Links from Gene
Items: 1 to 20 of 8908
1.
rs1491555377 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:125210403
(GRCh38)
9:127972682
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125210402:CA:
- Gene:
- RABEPK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00961/114
(
ALFA)
-=0.00063/36
(GnomAD)
-=0.0041/114
(TOMMO)
- HGVS:
2.
rs1491548133 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTTATATATACATGTATTTATATATGTATACATA
[Show Flanks]
- Chromosome:
- 9:125234624
(GRCh38)
9:127996904
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125234624:TATATATGTATACATATTTATATATACATGTATTTATATATGTATACATA:TATATATGTATACATATTTATATATACATGTATTTATATATGTATACATATTTATATATACATGTATTTATATATGTATACATA
- Gene:
- HSPA5 (Varview), RABEPK (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
TATATATGTATACATATTTATATATACATGTATT=0.000022/3
(GnomAD)
- HGVS:
4.
rs1491533432 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TC
[Show Flanks]
- Chromosome:
- 9:125232218
(GRCh38)
9:127994498
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125232218:C:CTC
- Gene:
- RABEPK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
CT=0.00032/5
(TOMMO)
- HGVS:
6.
rs1491400789 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 9:125199324
(GRCh38)
9:127961604
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125199324::A
- Gene:
- RABEPK (Varview), LOC105376271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000011/1
(GnomAD)
- HGVS:
7.
rs1491339529 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 9:125199139
(GRCh38)
9:127961419
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125199139::C
- Gene:
- RABEPK (Varview), LOC105376271 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00004/2
(GnomAD)
- HGVS:
8.
rs1491339101 has merged into rs34676967 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 9:125232233
(GRCh38)
9:127994512
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000009.12:125232217:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- RABEPK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
AC=0.11785/70
(NorthernSweden)
AC=0.15/6
(GENOME_DK)
- HGVS:
NC_000009.12:g.125232219CA[7], NC_000009.12:g.125232219CA[8], NC_000009.12:g.125232219CA[9], NC_000009.12:g.125232219CA[10], NC_000009.12:g.125232219CA[11], NC_000009.12:g.125232219CA[12], NC_000009.12:g.125232219CA[13], NC_000009.12:g.125232219CA[15], NC_000009.12:g.125232219CA[16], NC_000009.12:g.125232219CA[17], NC_000009.12:g.125232219CA[18], NC_000009.12:g.125232219CA[19], NC_000009.12:g.125232219CA[20], NC_000009.12:g.125232219CA[21], NC_000009.11:g.127994498CA[7], NC_000009.11:g.127994498CA[8], NC_000009.11:g.127994498CA[9], NC_000009.11:g.127994498CA[10], NC_000009.11:g.127994498CA[11], NC_000009.11:g.127994498CA[12], NC_000009.11:g.127994498CA[13], NC_000009.11:g.127994498CA[15], NC_000009.11:g.127994498CA[16], NC_000009.11:g.127994498CA[17], NC_000009.11:g.127994498CA[18], NC_000009.11:g.127994498CA[19], NC_000009.11:g.127994498CA[20], NC_000009.11:g.127994498CA[21]
9.
rs1491333052 has merged into rs111335703 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:125204040
(GRCh38)
9:127966319
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:125204031:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RABEPK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.421053/16
(GENOME_DK)
- HGVS:
NC_000009.12:g.125204040_125204052del, NC_000009.12:g.125204041_125204052del, NC_000009.12:g.125204042_125204052del, NC_000009.12:g.125204043_125204052del, NC_000009.12:g.125204044_125204052del, NC_000009.12:g.125204045_125204052del, NC_000009.12:g.125204046_125204052del, NC_000009.12:g.125204047_125204052del, NC_000009.12:g.125204048_125204052del, NC_000009.12:g.125204049_125204052del, NC_000009.12:g.125204050_125204052del, NC_000009.12:g.125204051_125204052del, NC_000009.12:g.125204052del, NC_000009.12:g.125204052dup, NC_000009.12:g.125204051_125204052dup, NC_000009.12:g.125204049_125204052dup, NC_000009.11:g.127966319_127966331del, NC_000009.11:g.127966320_127966331del, NC_000009.11:g.127966321_127966331del, NC_000009.11:g.127966322_127966331del, NC_000009.11:g.127966323_127966331del, NC_000009.11:g.127966324_127966331del, NC_000009.11:g.127966325_127966331del, NC_000009.11:g.127966326_127966331del, NC_000009.11:g.127966327_127966331del, NC_000009.11:g.127966328_127966331del, NC_000009.11:g.127966329_127966331del, NC_000009.11:g.127966330_127966331del, NC_000009.11:g.127966331del, NC_000009.11:g.127966331dup, NC_000009.11:g.127966330_127966331dup, NC_000009.11:g.127966328_127966331dup
10.
rs1491328717 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:125204031
(GRCh38)
9:127966310
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125204030:CA:
- Gene:
- RABEPK (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00329/39
(
ALFA)
-=0.00024/19
(GnomAD)
-=0.00171/28
(TOMMO)
- HGVS:
11.
rs1491315894 has merged into rs57591601 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:125199149
(GRCh38)
9:127961428
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:125199138:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RABEPK (Varview), LOC105376271 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.3452/1729
(1000Genomes)
-=0.4/16
(GENOME_DK)
- HGVS:
NC_000009.12:g.125199149_125199154del, NC_000009.12:g.125199152_125199154del, NC_000009.12:g.125199153_125199154del, NC_000009.12:g.125199154del, NC_000009.12:g.125199154dup, NC_000009.12:g.125199153_125199154dup, NC_000009.12:g.125199152_125199154dup, NC_000009.12:g.125199151_125199154dup, NC_000009.12:g.125199150_125199154dup, NC_000009.12:g.125199149_125199154dup, NC_000009.12:g.125199147_125199154dup, NC_000009.12:g.125199144_125199154dup, NC_000009.12:g.125199143_125199154dup, NC_000009.12:g.125199142_125199154dup, NC_000009.12:g.125199154_125199155insTTTTTTTTTTTTTTTTT, NC_000009.12:g.125199154_125199155insTTTTTTTTTTTTTTTTTT, NC_000009.12:g.125199154_125199155insTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.127961428_127961433del, NC_000009.11:g.127961431_127961433del, NC_000009.11:g.127961432_127961433del, NC_000009.11:g.127961433del, NC_000009.11:g.127961433dup, NC_000009.11:g.127961432_127961433dup, NC_000009.11:g.127961431_127961433dup, NC_000009.11:g.127961430_127961433dup, NC_000009.11:g.127961429_127961433dup, NC_000009.11:g.127961428_127961433dup, NC_000009.11:g.127961426_127961433dup, NC_000009.11:g.127961423_127961433dup, NC_000009.11:g.127961422_127961433dup, NC_000009.11:g.127961421_127961433dup, NC_000009.11:g.127961433_127961434insTTTTTTTTTTTTTTTTT, NC_000009.11:g.127961433_127961434insTTTTTTTTTTTTTTTTTT, NC_000009.11:g.127961433_127961434insTTTTTTTTTTTTTTTTTTT
12.
rs1491256459 has merged into rs201613993 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG
[Show Flanks]
- Chromosome:
- 9:125199333
(GRCh38)
9:127961612
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG
- Gene:
- RABEPK (Varview), LOC105376271 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGG=0./0
(
ALFA)
-=0.018531/4905
(TOPMED)
- HGVS:
NC_000009.12:g.125199333_125199334del, NC_000009.12:g.125199334del, NC_000009.12:g.125199334dup, NC_000009.12:g.125199333_125199334dup, NC_000009.12:g.125199332_125199334dup, NC_000009.12:g.125199331_125199334dup, NC_000009.12:g.125199330_125199334dup, NC_000009.12:g.125199329_125199334dup, NC_000009.11:g.127961612_127961613del, NC_000009.11:g.127961613del, NC_000009.11:g.127961613dup, NC_000009.11:g.127961612_127961613dup, NC_000009.11:g.127961611_127961613dup, NC_000009.11:g.127961610_127961613dup, NC_000009.11:g.127961609_127961613dup, NC_000009.11:g.127961608_127961613dup
13.
rs1491225600 has merged into rs59272289 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 9:125215206
(GRCh38)
9:127977485
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125215205:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:125215205:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:125215205:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:125215205:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:125215205:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- RABEPK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000091/24
(TOPMED)
- HGVS:
14.
rs1491154868 has merged into rs775128302 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:125210413
(GRCh38)
9:127972692
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:125210403:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RABEPK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.125210413_125210424del, NC_000009.12:g.125210416_125210424del, NC_000009.12:g.125210418_125210424del, NC_000009.12:g.125210419_125210424del, NC_000009.12:g.125210421_125210424del, NC_000009.12:g.125210422_125210424del, NC_000009.12:g.125210423_125210424del, NC_000009.12:g.125210424del, NC_000009.12:g.125210424dup, NC_000009.12:g.125210423_125210424dup, NC_000009.12:g.125210420_125210424dup, NC_000009.12:g.125210419_125210424dup, NC_000009.11:g.127972692_127972703del, NC_000009.11:g.127972695_127972703del, NC_000009.11:g.127972697_127972703del, NC_000009.11:g.127972698_127972703del, NC_000009.11:g.127972700_127972703del, NC_000009.11:g.127972701_127972703del, NC_000009.11:g.127972702_127972703del, NC_000009.11:g.127972703del, NC_000009.11:g.127972703dup, NC_000009.11:g.127972702_127972703dup, NC_000009.11:g.127972699_127972703dup, NC_000009.11:g.127972698_127972703dup
15.
rs1491152266 has merged into rs201613993 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG
[Show Flanks]
- Chromosome:
- 9:125199333
(GRCh38)
9:127961612
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000009.12:125199323:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG
- Gene:
- RABEPK (Varview), LOC105376271 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGGGG=0./0
(
ALFA)
-=0.018531/4905
(TOPMED)
- HGVS:
NC_000009.12:g.125199333_125199334del, NC_000009.12:g.125199334del, NC_000009.12:g.125199334dup, NC_000009.12:g.125199333_125199334dup, NC_000009.12:g.125199332_125199334dup, NC_000009.12:g.125199331_125199334dup, NC_000009.12:g.125199330_125199334dup, NC_000009.12:g.125199329_125199334dup, NC_000009.11:g.127961612_127961613del, NC_000009.11:g.127961613del, NC_000009.11:g.127961613dup, NC_000009.11:g.127961612_127961613dup, NC_000009.11:g.127961611_127961613dup, NC_000009.11:g.127961610_127961613dup, NC_000009.11:g.127961609_127961613dup, NC_000009.11:g.127961608_127961613dup
16.
rs1491057613 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- 9:125206509
(GRCh38)
9:127968789
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125206509::AG
- Gene:
- RABEPK (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AG=0./0
(
ALFA)
AG=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490967333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:125222673
(GRCh38)
9:127984952
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125222672:C:T
- Gene:
- RABEPK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000031/4
(GnomAD)
- HGVS:
19.
rs1490940302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:125208098
(GRCh38)
9:127970377
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125208097:G:A
- Gene:
- RABEPK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490913668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:125206911
(GRCh38)
9:127969190
(GRCh37)
- Canonical SPDI:
- NC_000009.12:125206910:G:A
- Gene:
- RABEPK (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: