Links from Gene
Items: 1 to 20 of 1000
2.
rs1491575247 has merged into rs397778032 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:44810920
(GRCh38)
6:44778657
(GRCh37)
- Canonical SPDI:
- NC_000006.12:44810907:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:44810907:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:44810907:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:44810907:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:44810907:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:44810907:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SUPT3H (Varview), LOC101929770 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3211/1608
(1000Genomes)
A=0.433/252
(NorthernSweden)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000006.12:g.44810920_44810921del, NC_000006.12:g.44810921del, NC_000006.12:g.44810921dup, NC_000006.12:g.44810920_44810921dup, NC_000006.12:g.44810919_44810921dup, NC_000006.12:g.44810913_44810921dup, NC_000006.11:g.44778657_44778658del, NC_000006.11:g.44778658del, NC_000006.11:g.44778658dup, NC_000006.11:g.44778657_44778658dup, NC_000006.11:g.44778656_44778658dup, NC_000006.11:g.44778650_44778658dup
3.
rs1491571422 has merged into rs70993502 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:45142747
(GRCh38)
6:45110484
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45142736:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.45142747_45142764del, NC_000006.12:g.45142748_45142764del, NC_000006.12:g.45142749_45142764del, NC_000006.12:g.45142750_45142764del, NC_000006.12:g.45142751_45142764del, NC_000006.12:g.45142752_45142764del, NC_000006.12:g.45142753_45142764del, NC_000006.12:g.45142754_45142764del, NC_000006.12:g.45142755_45142764del, NC_000006.12:g.45142756_45142764del, NC_000006.12:g.45142757_45142764del, NC_000006.12:g.45142758_45142764del, NC_000006.12:g.45142759_45142764del, NC_000006.12:g.45142760_45142764del, NC_000006.12:g.45142761_45142764del, NC_000006.12:g.45142762_45142764del, NC_000006.12:g.45142763_45142764del, NC_000006.12:g.45142764del, NC_000006.12:g.45142764dup, NC_000006.12:g.45142763_45142764dup, NC_000006.12:g.45142762_45142764dup, NC_000006.12:g.45142761_45142764dup, NC_000006.12:g.45142760_45142764dup, NC_000006.12:g.45142759_45142764dup, NC_000006.12:g.45142758_45142764dup, NC_000006.12:g.45142757_45142764dup, NC_000006.12:g.45142756_45142764dup, NC_000006.12:g.45142755_45142764dup, NC_000006.12:g.45142754_45142764dup, NC_000006.12:g.45142746_45142764dup, NC_000006.12:g.45142745_45142764dup, NC_000006.12:g.45142743_45142764dup, NC_000006.12:g.45142742_45142764dup, NC_000006.12:g.45142741_45142764dup, NC_000006.12:g.45142740_45142764dup, NC_000006.12:g.45142739_45142764dup, NC_000006.12:g.45142738_45142764dup, NC_000006.12:g.45142737_45142764A[43]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.45110484_45110501del, NC_000006.11:g.45110485_45110501del, NC_000006.11:g.45110486_45110501del, NC_000006.11:g.45110487_45110501del, NC_000006.11:g.45110488_45110501del, NC_000006.11:g.45110489_45110501del, NC_000006.11:g.45110490_45110501del, NC_000006.11:g.45110491_45110501del, NC_000006.11:g.45110492_45110501del, NC_000006.11:g.45110493_45110501del, NC_000006.11:g.45110494_45110501del, NC_000006.11:g.45110495_45110501del, NC_000006.11:g.45110496_45110501del, NC_000006.11:g.45110497_45110501del, NC_000006.11:g.45110498_45110501del, NC_000006.11:g.45110499_45110501del, NC_000006.11:g.45110500_45110501del, NC_000006.11:g.45110501del, NC_000006.11:g.45110501dup, NC_000006.11:g.45110500_45110501dup, NC_000006.11:g.45110499_45110501dup, NC_000006.11:g.45110498_45110501dup, NC_000006.11:g.45110497_45110501dup, NC_000006.11:g.45110496_45110501dup, NC_000006.11:g.45110495_45110501dup, NC_000006.11:g.45110494_45110501dup, NC_000006.11:g.45110493_45110501dup, NC_000006.11:g.45110492_45110501dup, NC_000006.11:g.45110491_45110501dup, NC_000006.11:g.45110483_45110501dup, NC_000006.11:g.45110482_45110501dup, NC_000006.11:g.45110480_45110501dup, NC_000006.11:g.45110479_45110501dup, NC_000006.11:g.45110478_45110501dup, NC_000006.11:g.45110477_45110501dup, NC_000006.11:g.45110476_45110501dup, NC_000006.11:g.45110475_45110501dup, NC_000006.11:g.45110474_45110501A[43]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
4.
rs1491570862 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTGC,GTGTGTGA,GTGTGTGTAC,GTGTGTGTAG
[Show Flanks]
- Chromosome:
- 6:45288548
(GRCh38)
6:45256286
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45288548::GTGC,NC_000006.12:45288548::GTGTGTGA,NC_000006.12:45288548::GTGTGTGTAC,NC_000006.12:45288548::GTGTGTGTAG
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTAC=0./0
(
ALFA)
GTGC=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491570083 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAGAA,GAAGAAGAAGAA,GAAGAAGAAGAAGAA,GAAGAAGAAGAAGAAGAA,GAAGAAGAAGAAGAAGAAGAA,GAAGAAGAAGAAGAAGAAGAAGAA,GAAGAAGAAGAAGAAGAAGAAGAAGAA
[Show Flanks]
- Chromosome:
- 6:45204247
(GRCh38)
6:45171985
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45204247:AA:AAGAAGAA,NC_000006.12:45204247:AA:AAGAAGAAGAAGAA,NC_000006.12:45204247:AA:AAGAAGAAGAAGAAGAA,NC_000006.12:45204247:AA:AAGAAGAAGAAGAAGAAGAA,NC_000006.12:45204247:AA:AAGAAGAAGAAGAAGAAGAAGAA,NC_000006.12:45204247:AA:AAGAAGAAGAAGAAGAAGAAGAAGAA,NC_000006.12:45204247:AA:AAGAAGAAGAAGAAGAAGAAGAAGAAGAA
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAGAAGAAGAAGAA=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.45204249_45204250insGAAGAA, NC_000006.12:g.45204250GAA[4], NC_000006.12:g.45204250GAA[5], NC_000006.12:g.45204250GAA[6], NC_000006.12:g.45204250GAA[7], NC_000006.12:g.45204250GAA[8], NC_000006.12:g.45204250GAA[9], NC_000006.11:g.45171986_45171987insGAAGAA, NC_000006.11:g.45171987GAA[4], NC_000006.11:g.45171987GAA[5], NC_000006.11:g.45171987GAA[6], NC_000006.11:g.45171987GAA[7], NC_000006.11:g.45171987GAA[8], NC_000006.11:g.45171987GAA[9]
6.
rs1491567899 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:44979543
(GRCh38)
6:44947281
(GRCh37)
- Canonical SPDI:
- NC_000006.12:44979543::T
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000043/6
(GnomAD)
- HGVS:
7.
rs1491567339 has merged into rs71674371 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:45092761
(GRCh38)
6:45060498
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45092750:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.45092761_45092771del, NC_000006.12:g.45092763_45092771del, NC_000006.12:g.45092764_45092771del, NC_000006.12:g.45092765_45092771del, NC_000006.12:g.45092766_45092771del, NC_000006.12:g.45092767_45092771del, NC_000006.12:g.45092768_45092771del, NC_000006.12:g.45092769_45092771del, NC_000006.12:g.45092770_45092771del, NC_000006.12:g.45092771del, NC_000006.12:g.45092771dup, NC_000006.12:g.45092770_45092771dup, NC_000006.12:g.45092769_45092771dup, NC_000006.12:g.45092768_45092771dup, NC_000006.12:g.45092767_45092771dup, NC_000006.12:g.45092766_45092771dup, NC_000006.12:g.45092765_45092771dup, NC_000006.12:g.45092754_45092771dup, NC_000006.11:g.45060498_45060508del, NC_000006.11:g.45060500_45060508del, NC_000006.11:g.45060501_45060508del, NC_000006.11:g.45060502_45060508del, NC_000006.11:g.45060503_45060508del, NC_000006.11:g.45060504_45060508del, NC_000006.11:g.45060505_45060508del, NC_000006.11:g.45060506_45060508del, NC_000006.11:g.45060507_45060508del, NC_000006.11:g.45060508del, NC_000006.11:g.45060508dup, NC_000006.11:g.45060507_45060508dup, NC_000006.11:g.45060506_45060508dup, NC_000006.11:g.45060505_45060508dup, NC_000006.11:g.45060504_45060508dup, NC_000006.11:g.45060503_45060508dup, NC_000006.11:g.45060502_45060508dup, NC_000006.11:g.45060491_45060508dup
8.
rs1491561914 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAAAAAAAAAAG
[Show Flanks]
- Chromosome:
- 6:45348513
(GRCh38)
6:45316251
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45348513:AAAAAAAAAAAG:AAAAAAAAAAAGAAAAAAAAAAAG
- Gene:
- RUNX2 (Varview), SUPT3H (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAAAAAAGAAAAAAAAAAAG=0./0
(
ALFA)
AAAAAAAAAAAG=0.00003/1
(GnomAD)
- HGVS:
9.
rs1491556815 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:45167818
(GRCh38)
6:45135556
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45167818::C
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491535275 has merged into rs66480751 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 6:45230672
(GRCh38)
6:45198409
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:45230662:TATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.45230664AT[4], NC_000006.12:g.45230664AT[5], NC_000006.12:g.45230664AT[6], NC_000006.12:g.45230664AT[7], NC_000006.12:g.45230664AT[8], NC_000006.12:g.45230664AT[9], NC_000006.12:g.45230664AT[10], NC_000006.12:g.45230664AT[11], NC_000006.12:g.45230664AT[13], NC_000006.12:g.45230664AT[14], NC_000006.12:g.45230664AT[15], NC_000006.12:g.45230664AT[16], NC_000006.12:g.45230664AT[17], NC_000006.12:g.45230664AT[18], NC_000006.12:g.45230664AT[19], NC_000006.12:g.45230664AT[20], NC_000006.12:g.45230664AT[21], NC_000006.12:g.45230664AT[22], NC_000006.12:g.45230664AT[23], NC_000006.12:g.45230664AT[24], NC_000006.12:g.45230664AT[25], NC_000006.12:g.45230664AT[26], NC_000006.12:g.45230664AT[27], NC_000006.12:g.45230664AT[28], NC_000006.12:g.45230664AT[32], NC_000006.11:g.45198401AT[4], NC_000006.11:g.45198401AT[5], NC_000006.11:g.45198401AT[6], NC_000006.11:g.45198401AT[7], NC_000006.11:g.45198401AT[8], NC_000006.11:g.45198401AT[9], NC_000006.11:g.45198401AT[10], NC_000006.11:g.45198401AT[11], NC_000006.11:g.45198401AT[13], NC_000006.11:g.45198401AT[14], NC_000006.11:g.45198401AT[15], NC_000006.11:g.45198401AT[16], NC_000006.11:g.45198401AT[17], NC_000006.11:g.45198401AT[18], NC_000006.11:g.45198401AT[19], NC_000006.11:g.45198401AT[20], NC_000006.11:g.45198401AT[21], NC_000006.11:g.45198401AT[22], NC_000006.11:g.45198401AT[23], NC_000006.11:g.45198401AT[24], NC_000006.11:g.45198401AT[25], NC_000006.11:g.45198401AT[26], NC_000006.11:g.45198401AT[27], NC_000006.11:g.45198401AT[28], NC_000006.11:g.45198401AT[32]
15.
rs1491507834 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:45114501
(GRCh38)
6:45082238
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45114500:AT:
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1491507382 has merged into rs1162738855 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:45141350
(GRCh38)
6:45109087
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:45141338:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.45141350_45141363del, NC_000006.12:g.45141351_45141363del, NC_000006.12:g.45141352_45141363del, NC_000006.12:g.45141353_45141363del, NC_000006.12:g.45141354_45141363del, NC_000006.12:g.45141355_45141363del, NC_000006.12:g.45141356_45141363del, NC_000006.12:g.45141357_45141363del, NC_000006.12:g.45141358_45141363del, NC_000006.12:g.45141359_45141363del, NC_000006.12:g.45141360_45141363del, NC_000006.12:g.45141361_45141363del, NC_000006.12:g.45141362_45141363del, NC_000006.12:g.45141363del, NC_000006.12:g.45141363dup, NC_000006.12:g.45141362_45141363dup, NC_000006.12:g.45141361_45141363dup, NC_000006.12:g.45141360_45141363dup, NC_000006.12:g.45141359_45141363dup, NC_000006.12:g.45141358_45141363dup, NC_000006.12:g.45141357_45141363dup, NC_000006.12:g.45141356_45141363dup, NC_000006.12:g.45141355_45141363dup, NC_000006.12:g.45141354_45141363dup, NC_000006.12:g.45141353_45141363dup, NC_000006.12:g.45141352_45141363dup, NC_000006.12:g.45141351_45141363dup, NC_000006.12:g.45141350_45141363dup, NC_000006.12:g.45141349_45141363dup, NC_000006.12:g.45141348_45141363dup, NC_000006.12:g.45141347_45141363dup, NC_000006.12:g.45141346_45141363dup, NC_000006.12:g.45141344_45141363dup, NC_000006.12:g.45141341_45141363dup, NC_000006.12:g.45141339_45141363dup, NC_000006.11:g.45109087_45109100del, NC_000006.11:g.45109088_45109100del, NC_000006.11:g.45109089_45109100del, NC_000006.11:g.45109090_45109100del, NC_000006.11:g.45109091_45109100del, NC_000006.11:g.45109092_45109100del, NC_000006.11:g.45109093_45109100del, NC_000006.11:g.45109094_45109100del, NC_000006.11:g.45109095_45109100del, NC_000006.11:g.45109096_45109100del, NC_000006.11:g.45109097_45109100del, NC_000006.11:g.45109098_45109100del, NC_000006.11:g.45109099_45109100del, NC_000006.11:g.45109100del, NC_000006.11:g.45109100dup, NC_000006.11:g.45109099_45109100dup, NC_000006.11:g.45109098_45109100dup, NC_000006.11:g.45109097_45109100dup, NC_000006.11:g.45109096_45109100dup, NC_000006.11:g.45109095_45109100dup, NC_000006.11:g.45109094_45109100dup, NC_000006.11:g.45109093_45109100dup, NC_000006.11:g.45109092_45109100dup, NC_000006.11:g.45109091_45109100dup, NC_000006.11:g.45109090_45109100dup, NC_000006.11:g.45109089_45109100dup, NC_000006.11:g.45109088_45109100dup, NC_000006.11:g.45109087_45109100dup, NC_000006.11:g.45109086_45109100dup, NC_000006.11:g.45109085_45109100dup, NC_000006.11:g.45109084_45109100dup, NC_000006.11:g.45109083_45109100dup, NC_000006.11:g.45109081_45109100dup, NC_000006.11:g.45109078_45109100dup, NC_000006.11:g.45109076_45109100dup
17.
rs1491504801 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 6:45033322
(GRCh38)
6:45001059
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45033321:TA:
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.001068/15
(
ALFA)
-=0.001198/6
(1000Genomes)
-=0.001336/187
(GnomAD)
-=0.001591/421
(TOPMED)
- HGVS:
18.
rs1491503443 has merged into rs1423903176 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GTGTGT
[Show Flanks]
- Chromosome:
- 6:45235518
(GRCh38)
6:45203255
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45235508:TGTGTGTGTGTGT:TGTGTGTGT,NC_000006.12:45235508:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.000334/46
(GnomAD)
TG=0.001118/5
(Estonian)
TG=0.011667/7
(NorthernSweden)
- HGVS:
19.
rs1491490373 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGA
[Show Flanks]
- Chromosome:
- 6:44834632
(GRCh38)
6:44802370
(GRCh37)
- Canonical SPDI:
- NC_000006.12:44834632:GATGA:GATGATGA
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GATGATGA=0./0
(
ALFA)
GAT=0.000004/1
(TOPMED)
- HGVS:
20.
rs1491485463 has merged into rs58524677 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 6:45288549
(GRCh38)
6:45256286
(GRCh37)
- Canonical SPDI:
- NC_000006.12:45288547:TATATATATATATATAT:T,NC_000006.12:45288547:TATATATATATATATAT:TAT,NC_000006.12:45288547:TATATATATATATATAT:TATAT,NC_000006.12:45288547:TATATATATATATATAT:TATATAT,NC_000006.12:45288547:TATATATATATATATAT:TATATATAT,NC_000006.12:45288547:TATATATATATATATAT:TATATATATAT,NC_000006.12:45288547:TATATATATATATATAT:TATATATATATAT,NC_000006.12:45288547:TATATATATATATATAT:TATATATATATATAT,NC_000006.12:45288547:TATATATATATATATAT:TATATATATATATATATAT
- Gene:
- SUPT3H (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATAT=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.45288549_45288564del, NC_000006.12:g.45288549AT[1], NC_000006.12:g.45288549AT[2], NC_000006.12:g.45288549AT[3], NC_000006.12:g.45288549AT[4], NC_000006.12:g.45288549AT[5], NC_000006.12:g.45288549AT[6], NC_000006.12:g.45288549AT[7], NC_000006.12:g.45288549AT[9], NC_000006.11:g.45256286_45256301del, NC_000006.11:g.45256286AT[1], NC_000006.11:g.45256286AT[2], NC_000006.11:g.45256286AT[3], NC_000006.11:g.45256286AT[4], NC_000006.11:g.45256286AT[5], NC_000006.11:g.45256286AT[6], NC_000006.11:g.45256286AT[7], NC_000006.11:g.45256286AT[9]