Links from Gene
Items: 1 to 20 of 1000
2.
rs1491527301 has merged into rs71167211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTTGTTTGTTTGTTT>-,GTTT,GTTTGTTT,GTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,GTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
[Show Flanks]
- Chromosome:
- 7:129731630
(GRCh38)
7:129371470
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129731611:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTGTTTGTTTGTTTGTTT,NC_000007.14:129731611:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTGTTTGTTTGTTTGTTTGTTT,NC_000007.14:129731611:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000007.14:129731611:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000007.14:129731611:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000007.14:129731611:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000007.14:129731611:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000007.14:129731611:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT,NC_000007.14:129731611:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT:TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTT
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTGTTTGTTTGTTTGTTTGTTT=0./0
(
ALFA)
-=0.2591/887
(1000Genomes)
- HGVS:
NC_000007.14:g.129731614GTTT[4], NC_000007.14:g.129731614GTTT[5], NC_000007.14:g.129731614GTTT[6], NC_000007.14:g.129731614GTTT[7], NC_000007.14:g.129731614GTTT[9], NC_000007.14:g.129731614GTTT[10], NC_000007.14:g.129731614GTTT[11], NC_000007.14:g.129731614GTTT[12], NC_000007.14:g.129731614GTTT[13], NC_000007.13:g.129371454GTTT[4], NC_000007.13:g.129371454GTTT[5], NC_000007.13:g.129371454GTTT[6], NC_000007.13:g.129371454GTTT[7], NC_000007.13:g.129371454GTTT[9], NC_000007.13:g.129371454GTTT[10], NC_000007.13:g.129371454GTTT[11], NC_000007.13:g.129371454GTTT[12], NC_000007.13:g.129371454GTTT[13]
3.
rs1491512112 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 7:129748839
(GRCh38)
7:129388680
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129748839:T:TT
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491488342 has merged into rs57595268 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:129754477
(GRCh38)
7:129394317
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:129754464:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.129754477_129754483del, NC_000007.14:g.129754478_129754483del, NC_000007.14:g.129754479_129754483del, NC_000007.14:g.129754480_129754483del, NC_000007.14:g.129754481_129754483del, NC_000007.14:g.129754482_129754483del, NC_000007.14:g.129754483del, NC_000007.14:g.129754483dup, NC_000007.14:g.129754482_129754483dup, NC_000007.14:g.129754481_129754483dup, NC_000007.14:g.129754480_129754483dup, NC_000007.14:g.129754479_129754483dup, NC_000007.14:g.129754478_129754483dup, NC_000007.14:g.129754477_129754483dup, NC_000007.14:g.129754476_129754483dup, NC_000007.14:g.129754475_129754483dup, NC_000007.14:g.129754474_129754483dup, NC_000007.14:g.129754473_129754483dup, NC_000007.14:g.129754472_129754483dup, NC_000007.14:g.129754471_129754483dup, NC_000007.14:g.129754470_129754483dup, NC_000007.14:g.129754469_129754483dup, NC_000007.14:g.129754468_129754483dup, NC_000007.14:g.129754467_129754483dup, NC_000007.14:g.129754466_129754483dup, NC_000007.14:g.129754465_129754483dup, NC_000007.14:g.129754483_129754484insAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.129754483_129754484insAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.129754483_129754484insAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.129754483_129754484insAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.129754483_129754484insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.129754483_129754484insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.129754483_129754484insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.129754483_129754484insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.129754483_129754484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.129754483_129754484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.129394317_129394323del, NC_000007.13:g.129394318_129394323del, NC_000007.13:g.129394319_129394323del, NC_000007.13:g.129394320_129394323del, NC_000007.13:g.129394321_129394323del, NC_000007.13:g.129394322_129394323del, NC_000007.13:g.129394323del, NC_000007.13:g.129394323dup, NC_000007.13:g.129394322_129394323dup, NC_000007.13:g.129394321_129394323dup, NC_000007.13:g.129394320_129394323dup, NC_000007.13:g.129394319_129394323dup, NC_000007.13:g.129394318_129394323dup, NC_000007.13:g.129394317_129394323dup, NC_000007.13:g.129394316_129394323dup, NC_000007.13:g.129394315_129394323dup, NC_000007.13:g.129394314_129394323dup, NC_000007.13:g.129394313_129394323dup, NC_000007.13:g.129394312_129394323dup, NC_000007.13:g.129394311_129394323dup, NC_000007.13:g.129394310_129394323dup, NC_000007.13:g.129394309_129394323dup, NC_000007.13:g.129394308_129394323dup, NC_000007.13:g.129394307_129394323dup, NC_000007.13:g.129394306_129394323dup, NC_000007.13:g.129394305_129394323dup, NC_000007.13:g.129394323_129394324insAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.129394323_129394324insAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.129394323_129394324insAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.129394323_129394324insAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.129394323_129394324insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.129394323_129394324insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.129394323_129394324insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.129394323_129394324insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.129394323_129394324insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.129394323_129394324insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491475240 has merged into rs11319951 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:129651430
(GRCh38)
7:129291270
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129651419:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:129651419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:129651419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:129651419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:129651419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:129651419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:129651419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:129651419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:129651419:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3538/1772
(1000Genomes)
- HGVS:
NC_000007.14:g.129651430_129651435del, NC_000007.14:g.129651432_129651435del, NC_000007.14:g.129651433_129651435del, NC_000007.14:g.129651434_129651435del, NC_000007.14:g.129651435del, NC_000007.14:g.129651435dup, NC_000007.14:g.129651434_129651435dup, NC_000007.14:g.129651433_129651435dup, NC_000007.14:g.129651432_129651435dup, NC_000007.13:g.129291270_129291275del, NC_000007.13:g.129291272_129291275del, NC_000007.13:g.129291273_129291275del, NC_000007.13:g.129291274_129291275del, NC_000007.13:g.129291275del, NC_000007.13:g.129291275dup, NC_000007.13:g.129291274_129291275dup, NC_000007.13:g.129291273_129291275dup, NC_000007.13:g.129291272_129291275dup
6.
rs1491469465 has merged into rs35512508 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:129691378
(GRCh38)
7:129331218
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129691364:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:129691364:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:129691364:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:129691364:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:129691364:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:129691364:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:129691364:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:129691364:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:129691364:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2017/1010
(1000Genomes)
- HGVS:
NC_000007.14:g.129691378_129691379del, NC_000007.14:g.129691379del, NC_000007.14:g.129691379dup, NC_000007.14:g.129691378_129691379dup, NC_000007.14:g.129691377_129691379dup, NC_000007.14:g.129691376_129691379dup, NC_000007.14:g.129691375_129691379dup, NC_000007.14:g.129691374_129691379dup, NC_000007.14:g.129691373_129691379dup, NC_000007.13:g.129331218_129331219del, NC_000007.13:g.129331219del, NC_000007.13:g.129331219dup, NC_000007.13:g.129331218_129331219dup, NC_000007.13:g.129331217_129331219dup, NC_000007.13:g.129331216_129331219dup, NC_000007.13:g.129331215_129331219dup, NC_000007.13:g.129331214_129331219dup, NC_000007.13:g.129331213_129331219dup
7.
rs1491467042 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:129683346
(GRCh38)
7:129323187
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129683346::G
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0006/10
(TOMMO)
- HGVS:
8.
rs1491464119 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 7:129736631
(GRCh38)
7:129376471
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129736630:CT:
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000021/1
(GnomAD)
- HGVS:
9.
rs1491461064 has merged into rs536331873 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:129713108
(GRCh38)
7:129352948
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129713093:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:129713093:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:129713093:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:129713093:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:129713093:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:129713093:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:129713093:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:129713093:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:129713093:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:129713093:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.1895/949
(1000Genomes)
- HGVS:
NC_000007.14:g.129713108_129713111del, NC_000007.14:g.129713109_129713111del, NC_000007.14:g.129713110_129713111del, NC_000007.14:g.129713111del, NC_000007.14:g.129713111dup, NC_000007.14:g.129713110_129713111dup, NC_000007.14:g.129713109_129713111dup, NC_000007.14:g.129713106_129713111dup, NC_000007.14:g.129713105_129713111dup, NC_000007.14:g.129713104_129713111dup, NC_000007.13:g.129352948_129352951del, NC_000007.13:g.129352949_129352951del, NC_000007.13:g.129352950_129352951del, NC_000007.13:g.129352951del, NC_000007.13:g.129352951dup, NC_000007.13:g.129352950_129352951dup, NC_000007.13:g.129352949_129352951dup, NC_000007.13:g.129352946_129352951dup, NC_000007.13:g.129352945_129352951dup, NC_000007.13:g.129352944_129352951dup
10.
rs1491450960 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 7:129683347
(GRCh38)
7:129323187
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129683345:AAA:A,NC_000007.14:129683345:AAA:AAAAA
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
-=0.0012/20
(TOMMO)
- HGVS:
11.
rs1491439652 has merged into rs1186472112 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:129642768
(GRCh38)
7:129282609
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129642757:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:129642757:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:129642757:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:129642757:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:129642757:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:129642757:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:129642757:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:129642757:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.02086/32
(Korea1K)
T=0.05179/29
(NorthernSweden)
- HGVS:
NC_000007.14:g.129642768_129642776del, NC_000007.14:g.129642770_129642776del, NC_000007.14:g.129642774_129642776del, NC_000007.14:g.129642775_129642776del, NC_000007.14:g.129642776del, NC_000007.14:g.129642776dup, NC_000007.14:g.129642775_129642776dup, NC_000007.14:g.129642774_129642776dup, NC_000007.13:g.129282609_129282617del, NC_000007.13:g.129282611_129282617del, NC_000007.13:g.129282615_129282617del, NC_000007.13:g.129282616_129282617del, NC_000007.13:g.129282617del, NC_000007.13:g.129282617dup, NC_000007.13:g.129282616_129282617dup, NC_000007.13:g.129282615_129282617dup
12.
rs1491438981 has merged into rs912632961 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 7:129673840
(GRCh38)
7:129313680
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129673839:TTTTTTT:TTTTTT,NC_000007.14:129673839:TTTTTTT:TTTTTTTT
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.00014/37
(TOPMED)
- HGVS:
13.
rs1491421160 has merged into rs56403369 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 7:129614455
(GRCh38)
7:129254296
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.129614445GT[5], NC_000007.14:g.129614445GT[6], NC_000007.14:g.129614445GT[7], NC_000007.14:g.129614445GT[8], NC_000007.14:g.129614445GT[9], NC_000007.14:g.129614445GT[10], NC_000007.14:g.129614445GT[12], NC_000007.14:g.129614445GT[13], NC_000007.14:g.129614445GT[14], NC_000007.14:g.129614445GT[15], NC_000007.14:g.129614445GT[16], NC_000007.14:g.129614445GT[17], NC_000007.14:g.129614445GT[18], NC_000007.14:g.129614445GT[19], NC_000007.14:g.129614445GT[20], NC_000007.14:g.129614445GT[21], NC_000007.14:g.129614445GT[22], NC_000007.14:g.129614445GT[23], NC_000007.14:g.129614445GT[24], NC_000007.14:g.129614445GT[25], NC_000007.14:g.129614445GT[26], NC_000007.14:g.129614445GT[27], NC_000007.14:g.129614445GT[28], NC_000007.14:g.129614445GT[30], NC_000007.13:g.129254286GT[5], NC_000007.13:g.129254286GT[6], NC_000007.13:g.129254286GT[7], NC_000007.13:g.129254286GT[8], NC_000007.13:g.129254286GT[9], NC_000007.13:g.129254286GT[10], NC_000007.13:g.129254286GT[12], NC_000007.13:g.129254286GT[13], NC_000007.13:g.129254286GT[14], NC_000007.13:g.129254286GT[15], NC_000007.13:g.129254286GT[16], NC_000007.13:g.129254286GT[17], NC_000007.13:g.129254286GT[18], NC_000007.13:g.129254286GT[19], NC_000007.13:g.129254286GT[20], NC_000007.13:g.129254286GT[21], NC_000007.13:g.129254286GT[22], NC_000007.13:g.129254286GT[23], NC_000007.13:g.129254286GT[24], NC_000007.13:g.129254286GT[25], NC_000007.13:g.129254286GT[26], NC_000007.13:g.129254286GT[27], NC_000007.13:g.129254286GT[28], NC_000007.13:g.129254286GT[30]
14.
rs1491414840 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:129619735
(GRCh38)
7:129259577
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129619735:G:GG
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.00005/4
(GnomAD)
- HGVS:
15.
rs1491389971 has merged into rs5887442 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:129736642
(GRCh38)
7:129376482
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129736631:TTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:129736631:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:129736631:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:129736631:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:129736631:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0.0012/6
(
ALFA)
T=0.0793/294
(TWINSUK)
T=0.0859/331
(ALSPAC)
T=0.0864/51
(NorthernSweden)
T=0.125/5
(GENOME_DK)
T=0.1853/928
(1000Genomes)
- HGVS:
16.
rs1491387197 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A,AA
[Show Flanks]
- Chromosome:
- 7:129705959
(GRCh38)
7:129345800
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129705959:AA:AAA,NC_000007.14:129705959:AA:AAAA
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1491367764 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGTGTGTGTGTGTGTGTGT,TTGT,TTGTGTGTGTGT,TTGTGTGTGTGTGT,TTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 7:129614443
(GRCh38)
7:129254285
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129614443:T:TTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:T:TTTGT,NC_000007.14:129614443:T:TTTGTGTGTGTGT,NC_000007.14:129614443:T:TTTGTGTGTGTGTGT,NC_000007.14:129614443:T:TTTGTGTGTGTGTGTGT,NC_000007.14:129614443:T:TTTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:T:TTTGTGTGTGTGTGTGTGTGT,NC_000007.14:129614443:T:TTTGTGTGTGTGTGTGTGTGTGT
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.129614444_129614445insTGTGTGTGTGTGTGTGTGT, NC_000007.14:g.129614444_129614445insTTGT, NC_000007.14:g.129614444_129614445insTTGTGTGTGTGT, NC_000007.14:g.129614444_129614445insTTGTGTGTGTGTGT, NC_000007.14:g.129614444_129614445insTTGTGTGTGTGTGTGT, NC_000007.14:g.129614444_129614445insTTGTGTGTGTGTGTGTGT, NC_000007.14:g.129614444_129614445insTTGTGTGTGTGTGTGTGTGT, NC_000007.14:g.129614444_129614445insTTGTGTGTGTGTGTGTGTGTGT, NC_000007.13:g.129254285_129254286insTGTGTGTGTGTGTGTGTGT, NC_000007.13:g.129254285_129254286insTTGT, NC_000007.13:g.129254285_129254286insTTGTGTGTGTGT, NC_000007.13:g.129254285_129254286insTTGTGTGTGTGTGT, NC_000007.13:g.129254285_129254286insTTGTGTGTGTGTGTGT, NC_000007.13:g.129254285_129254286insTTGTGTGTGTGTGTGTGT, NC_000007.13:g.129254285_129254286insTTGTGTGTGTGTGTGTGTGT, NC_000007.13:g.129254285_129254286insTTGTGTGTGTGTGTGTGTGTGT
18.
rs1491365706 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAT
[Show Flanks]
- Chromosome:
- 7:129682551
(GRCh38)
7:129322392
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129682551:TAT:TATTAT
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATTAT=0./0
(
ALFA)
TAT=0.000008/2
(TOPMED)
TAT=0.000014/2
(GnomAD)
- HGVS:
19.
rs1491323365 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTAT,GTATAT,GTATATAT,GTATATATAT,GTATATATATATAT,GTGTAT,GTGTATAT,GTGTATATAT
[Show Flanks]
- Chromosome:
- 7:129619396
(GRCh38)
7:129259238
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129619396:T:TGTAT,NC_000007.14:129619396:T:TGTATAT,NC_000007.14:129619396:T:TGTATATAT,NC_000007.14:129619396:T:TGTATATATAT,NC_000007.14:129619396:T:TGTATATATATATAT,NC_000007.14:129619396:T:TGTGTAT,NC_000007.14:129619396:T:TGTGTATAT,NC_000007.14:129619396:T:TGTGTATATAT
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.129619397_129619398insGTAT, NC_000007.14:g.129619397_129619398insGTATAT, NC_000007.14:g.129619397_129619398insGTATATAT, NC_000007.14:g.129619397_129619398insGTATATATAT, NC_000007.14:g.129619397_129619398insGTATATATATATAT, NC_000007.14:g.129619397TG[2]TAT[1], NC_000007.14:g.129619397TG[2]TA[2]T[1], NC_000007.14:g.129619397TG[2]TA[3]T[1], NC_000007.13:g.129259238_129259239insGTAT, NC_000007.13:g.129259238_129259239insGTATAT, NC_000007.13:g.129259238_129259239insGTATATAT, NC_000007.13:g.129259238_129259239insGTATATATAT, NC_000007.13:g.129259238_129259239insGTATATATATATAT, NC_000007.13:g.129259238TG[2]TAT[1], NC_000007.13:g.129259238TG[2]TA[2]T[1], NC_000007.13:g.129259238TG[2]TA[3]T[1]
20.
rs1491294035 has merged into rs34557264 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAAA
[Show Flanks]
- Chromosome:
- 7:129745012
(GRCh38)
7:129384852
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129745003:AAAAAAAAAA:AAAAAAAA,NC_000007.14:129745003:AAAAAAAAAA:AAAAAAAAA,NC_000007.14:129745003:AAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:129745003:AAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- NRF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.016502/70
(1000Genomes)
-=0.128736/34075
(TOPMED)
-=0.180199/759
(Estonian)
- HGVS: