Links from Gene
Items: 1 to 20 of 17728
1.
rs1491552163 has merged into rs35391482 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 3:129145237
(GRCh38)
3:128864080
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129145224:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:129145224:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:129145224:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:129145224:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:129145224:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:129145224:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:129145224:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- ISY1 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.0883/442
(1000Genomes)
- HGVS:
NC_000003.12:g.129145237_129145241del, NC_000003.12:g.129145238_129145241del, NC_000003.12:g.129145239_129145241del, NC_000003.12:g.129145240_129145241del, NC_000003.12:g.129145241del, NC_000003.12:g.129145241dup, NC_000003.12:g.129145240_129145241dup, NC_000003.11:g.128864080_128864084del, NC_000003.11:g.128864081_128864084del, NC_000003.11:g.128864082_128864084del, NC_000003.11:g.128864083_128864084del, NC_000003.11:g.128864084del, NC_000003.11:g.128864084dup, NC_000003.11:g.128864083_128864084dup
2.
rs1491518286 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:129154243
(GRCh38)
3:128873087
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129154243::C
- Gene:
- ISY1 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.00001/1
(GnomAD)
- HGVS:
3.
rs1491502743 has merged into rs58548903 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:129154449
(GRCh38)
3:128873292
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154439:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ISY1 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.129154449_129154463del, NC_000003.12:g.129154450_129154463del, NC_000003.12:g.129154451_129154463del, NC_000003.12:g.129154452_129154463del, NC_000003.12:g.129154453_129154463del, NC_000003.12:g.129154455_129154463del, NC_000003.12:g.129154456_129154463del, NC_000003.12:g.129154457_129154463del, NC_000003.12:g.129154458_129154463del, NC_000003.12:g.129154459_129154463del, NC_000003.12:g.129154460_129154463del, NC_000003.12:g.129154461_129154463del, NC_000003.12:g.129154462_129154463del, NC_000003.12:g.129154463del, NC_000003.12:g.129154463dup, NC_000003.12:g.129154462_129154463dup, NC_000003.12:g.129154461_129154463dup, NC_000003.12:g.129154460_129154463dup, NC_000003.12:g.129154459_129154463dup, NC_000003.12:g.129154458_129154463dup, NC_000003.12:g.129154457_129154463dup, NC_000003.11:g.128873292_128873306del, NC_000003.11:g.128873293_128873306del, NC_000003.11:g.128873294_128873306del, NC_000003.11:g.128873295_128873306del, NC_000003.11:g.128873296_128873306del, NC_000003.11:g.128873298_128873306del, NC_000003.11:g.128873299_128873306del, NC_000003.11:g.128873300_128873306del, NC_000003.11:g.128873301_128873306del, NC_000003.11:g.128873302_128873306del, NC_000003.11:g.128873303_128873306del, NC_000003.11:g.128873304_128873306del, NC_000003.11:g.128873305_128873306del, NC_000003.11:g.128873306del, NC_000003.11:g.128873306dup, NC_000003.11:g.128873305_128873306dup, NC_000003.11:g.128873304_128873306dup, NC_000003.11:g.128873303_128873306dup, NC_000003.11:g.128873302_128873306dup, NC_000003.11:g.128873301_128873306dup, NC_000003.11:g.128873300_128873306dup
4.
rs1491425973 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 3:129121082
(GRCh38)
3:128839926
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129121082::TA
- Gene:
- RAB43 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TA=0.00003/1
(GnomAD)
- HGVS:
5.
rs1491409623 has merged into rs1175621872 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:129137927
(GRCh38)
3:128856770
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129137914:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ISY1 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.129137927_129137936del, NC_000003.12:g.129137928_129137936del, NC_000003.12:g.129137929_129137936del, NC_000003.12:g.129137930_129137936del, NC_000003.12:g.129137933_129137936del, NC_000003.12:g.129137934_129137936del, NC_000003.12:g.129137935_129137936del, NC_000003.12:g.129137936del, NC_000003.12:g.129137936dup, NC_000003.12:g.129137935_129137936dup, NC_000003.12:g.129137934_129137936dup, NC_000003.12:g.129137931_129137936dup, NC_000003.11:g.128856770_128856779del, NC_000003.11:g.128856771_128856779del, NC_000003.11:g.128856772_128856779del, NC_000003.11:g.128856773_128856779del, NC_000003.11:g.128856776_128856779del, NC_000003.11:g.128856777_128856779del, NC_000003.11:g.128856778_128856779del, NC_000003.11:g.128856779del, NC_000003.11:g.128856779dup, NC_000003.11:g.128856778_128856779dup, NC_000003.11:g.128856777_128856779dup, NC_000003.11:g.128856774_128856779dup
6.
rs1491349021 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:129130702
(GRCh38)
3:128849546
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129130702::T
- Gene:
- ISY1 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
8.
rs1491306850 has merged into rs777277943 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:129154254
(GRCh38)
3:128873097
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:129154242:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ISY1 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAA=0.01498/8
(NorthernSweden)
A=0.425/17
(GENOME_DK)
- HGVS:
NC_000003.12:g.129154254_129154265del, NC_000003.12:g.129154255_129154265del, NC_000003.12:g.129154258_129154265del, NC_000003.12:g.129154259_129154265del, NC_000003.12:g.129154260_129154265del, NC_000003.12:g.129154262_129154265del, NC_000003.12:g.129154263_129154265del, NC_000003.12:g.129154264_129154265del, NC_000003.12:g.129154265del, NC_000003.12:g.129154265dup, NC_000003.12:g.129154264_129154265dup, NC_000003.12:g.129154263_129154265dup, NC_000003.12:g.129154262_129154265dup, NC_000003.12:g.129154260_129154265dup, NC_000003.12:g.129154257_129154265dup, NC_000003.11:g.128873097_128873108del, NC_000003.11:g.128873098_128873108del, NC_000003.11:g.128873101_128873108del, NC_000003.11:g.128873102_128873108del, NC_000003.11:g.128873103_128873108del, NC_000003.11:g.128873105_128873108del, NC_000003.11:g.128873106_128873108del, NC_000003.11:g.128873107_128873108del, NC_000003.11:g.128873108del, NC_000003.11:g.128873108dup, NC_000003.11:g.128873107_128873108dup, NC_000003.11:g.128873106_128873108dup, NC_000003.11:g.128873105_128873108dup, NC_000003.11:g.128873103_128873108dup, NC_000003.11:g.128873100_128873108dup
9.
rs1491302798 has merged into rs1251520604 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 3:129113181
(GRCh38)
3:128832024
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129113170:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:129113170:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:129113170:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:129113170:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:129113170:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- RAB43 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.00639/107
(TOMMO)
-=0.008834/5
(NorthernSweden)
-=0.011425/3024
(TOPMED)
-=0.019168/35
(Korea1K)
- HGVS:
10.
rs1491293730 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:129121082
(GRCh38)
3:128839925
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129121081:CA:
- Gene:
- RAB43 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.07511/891
(
ALFA)
-=0.00185/52
(TOMMO)
- HGVS:
11.
rs1491267925 has merged into rs200896936 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:129094516
(GRCh38)
3:128813359
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:129094505:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RAB43 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTT=0./0
(GENOME_DK)
- HGVS:
NC_000003.12:g.129094516_129094533del, NC_000003.12:g.129094517_129094533del, NC_000003.12:g.129094518_129094533del, NC_000003.12:g.129094519_129094533del, NC_000003.12:g.129094520_129094533del, NC_000003.12:g.129094521_129094533del, NC_000003.12:g.129094522_129094533del, NC_000003.12:g.129094523_129094533del, NC_000003.12:g.129094524_129094533del, NC_000003.12:g.129094525_129094533del, NC_000003.12:g.129094526_129094533del, NC_000003.12:g.129094527_129094533del, NC_000003.12:g.129094528_129094533del, NC_000003.12:g.129094529_129094533del, NC_000003.12:g.129094530_129094533del, NC_000003.12:g.129094531_129094533del, NC_000003.12:g.129094532_129094533del, NC_000003.12:g.129094533del, NC_000003.12:g.129094533dup, NC_000003.12:g.129094532_129094533dup, NC_000003.12:g.129094531_129094533dup, NC_000003.12:g.129094530_129094533dup, NC_000003.12:g.129094529_129094533dup, NC_000003.12:g.129094528_129094533dup, NC_000003.12:g.129094527_129094533dup, NC_000003.12:g.129094526_129094533dup, NC_000003.12:g.129094525_129094533dup, NC_000003.12:g.129094524_129094533dup, NC_000003.12:g.129094523_129094533dup, NC_000003.12:g.129094522_129094533dup, NC_000003.12:g.129094521_129094533dup, NC_000003.12:g.129094520_129094533dup, NC_000003.12:g.129094519_129094533dup, NC_000003.12:g.129094517_129094533dup, NC_000003.12:g.129094514_129094533dup, NC_000003.12:g.129094511_129094533dup, NC_000003.11:g.128813359_128813376del, NC_000003.11:g.128813360_128813376del, NC_000003.11:g.128813361_128813376del, NC_000003.11:g.128813362_128813376del, NC_000003.11:g.128813363_128813376del, NC_000003.11:g.128813364_128813376del, NC_000003.11:g.128813365_128813376del, NC_000003.11:g.128813366_128813376del, NC_000003.11:g.128813367_128813376del, NC_000003.11:g.128813368_128813376del, NC_000003.11:g.128813369_128813376del, NC_000003.11:g.128813370_128813376del, NC_000003.11:g.128813371_128813376del, NC_000003.11:g.128813372_128813376del, NC_000003.11:g.128813373_128813376del, NC_000003.11:g.128813374_128813376del, NC_000003.11:g.128813375_128813376del, NC_000003.11:g.128813376del, NC_000003.11:g.128813376dup, NC_000003.11:g.128813375_128813376dup, NC_000003.11:g.128813374_128813376dup, NC_000003.11:g.128813373_128813376dup, NC_000003.11:g.128813372_128813376dup, NC_000003.11:g.128813371_128813376dup, NC_000003.11:g.128813370_128813376dup, NC_000003.11:g.128813369_128813376dup, NC_000003.11:g.128813368_128813376dup, NC_000003.11:g.128813367_128813376dup, NC_000003.11:g.128813366_128813376dup, NC_000003.11:g.128813365_128813376dup, NC_000003.11:g.128813364_128813376dup, NC_000003.11:g.128813363_128813376dup, NC_000003.11:g.128813362_128813376dup, NC_000003.11:g.128813360_128813376dup, NC_000003.11:g.128813357_128813376dup, NC_000003.11:g.128813354_128813376dup
12.
rs1491204818 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAA
[Show Flanks]
- Chromosome:
- 3:129130704
(GRCh38)
3:128849547
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129130701:AAAA:AA,NC_000003.12:129130701:AAAA:AAAAA
- Gene:
- ISY1 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1491196317 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 3:129091776
(GRCh38)
3:128810620
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129091776:G:GG
- Gene:
- RAB43 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1491162319 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:129145224
(GRCh38)
3:128864067
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129145223:AT:
- Gene:
- ISY1 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00025/3
(
ALFA)
-=0.00007/4
(GnomAD)
- HGVS:
16.
rs1490991667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:129161391
(GRCh38)
3:128880234
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129161390:G:A
- Gene:
- ISY1 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490973400 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:129087379
(GRCh38)
3:128806222
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129087378:G:A
- Gene:
- RAB43 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490968421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:129098168
(GRCh38)
3:128817011
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129098167:C:T
- Gene:
- RAB43 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490964148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:129149414
(GRCh38)
3:128868257
(GRCh37)
- Canonical SPDI:
- NC_000003.12:129149413:C:A
- Gene:
- ISY1 (Varview), ISY1-RAB43 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00017/2
(
ALFA)
A=0.0241/70
(KOREAN)
- HGVS: