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Select item 14914478681.

rs1491447868 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC,CACAC,CC [Show Flanks]
Chromosome:: 6:33198933 (GRCh38)
6:33166711 (GRCh37)
Canonical SPDI:: NC_000006.12:33198933::C,NC_000006.12:33198933::CAC,NC_000006.12:33198933::CACAC,NC_000006.12:33198933::CC
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
C=0.000218/4 (TOMMO)
C=0.011859/1397 (GnomAD)
HGVS:: NC_000006.12:g.33198933_33198934insC, NC_000006.12:g.33198933_33198934insCAC, NC_000006.12:g.33198933_33198934insCACAC, NC_000006.12:g.33198933_33198934insCC, NC_000006.11:g.33166710_33166711insC, NC_000006.11:g.33166710_33166711insCAC, NC_000006.11:g.33166710_33166711insCACAC, NC_000006.11:g.33166710_33166711insCC, NG_023374.1:g.6722_6723insG, NG_023374.1:g.6722_6723insGTG, NG_023374.1:g.6722_6723insGTGTG, NG_023374.1:g.6722_6723insGG, NT_113891.3:g.4610438_4610439insC, NT_113891.3:g.4610438_4610439insCAC, NT_113891.3:g.4610438_4610439insCACAC, NT_113891.3:g.4610438_4610439insCC, NT_113891.2:g.4610544_4610545insC, NT_113891.2:g.4610544_4610545insCAC, NT_113891.2:g.4610544_4610545insCACAC, NT_113891.2:g.4610544_4610545insCC, NT_167248.2:g.4393337_4393338insC, NT_167248.2:g.4393337_4393338insCAC, NT_167248.2:g.4393337_4393338insCACAC, NT_167248.2:g.4393337_4393338insCC, NT_167248.1:g.4398933_4398934insC, NT_167248.1:g.4398933_4398934insCAC, NT_167248.1:g.4398933_4398934insCACAC, NT_167248.1:g.4398933_4398934insCC, NT_167246.2:g.4618406_4618407insC, NT_167246.2:g.4618406_4618407insCAC, NT_167246.2:g.4618406_4618407insCACAC, NT_167246.2:g.4618406_4618407insCC, NT_167246.1:g.4624026_4624027insC, NT_167246.1:g.4624026_4624027insCAC, NT_167246.1:g.4624026_4624027insCACAC, NT_167246.1:g.4624026_4624027insCC, NT_167245.2:g.4442432_4442433insC, NT_167245.2:g.4442432_4442433insCAC, NT_167245.2:g.4442432_4442433insCACAC, NT_167245.2:g.4442432_4442433insCC, NT_167245.1:g.4448017_4448018insC, NT_167245.1:g.4448017_4448018insCAC, NT_167245.1:g.4448017_4448018insCACAC, NT_167245.1:g.4448017_4448018insCC, NT_167247.2:g.4634886_4634887insC, NT_167247.2:g.4634886_4634887insCAC, NT_167247.2:g.4634886_4634887insCACAC, NT_167247.2:g.4634886_4634887insCC, NT_167247.1:g.4640471_4640472insC, NT_167247.1:g.4640471_4640472insCAC, NT_167247.1:g.4640471_4640472insCACAC, NT_167247.1:g.4640471_4640472insCC

Select item 14913235782.

rs1491323578 has merged into rs9280361 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:33198924 (GRCh38)
6:33166701 (GRCh37)
Canonical SPDI:: NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:33198913:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.33198924_33198934del, NC_000006.12:g.33198927_33198934del, NC_000006.12:g.33198928_33198934del, NC_000006.12:g.33198929_33198934del, NC_000006.12:g.33198930_33198934del, NC_000006.12:g.33198931_33198934del, NC_000006.12:g.33198932_33198934del, NC_000006.12:g.33198933_33198934del, NC_000006.12:g.33198934del, NC_000006.12:g.33198934dup, NC_000006.12:g.33198933_33198934dup, NC_000006.12:g.33198932_33198934dup, NC_000006.12:g.33198931_33198934dup, NC_000006.12:g.33198930_33198934dup, NC_000006.12:g.33198929_33198934dup, NC_000006.12:g.33198917_33198934dup, NC_000006.11:g.33166701_33166711del, NC_000006.11:g.33166704_33166711del, NC_000006.11:g.33166705_33166711del, NC_000006.11:g.33166706_33166711del, NC_000006.11:g.33166707_33166711del, NC_000006.11:g.33166708_33166711del, NC_000006.11:g.33166709_33166711del, NC_000006.11:g.33166710_33166711del, NC_000006.11:g.33166711del, NC_000006.11:g.33166711dup, NC_000006.11:g.33166710_33166711dup, NC_000006.11:g.33166709_33166711dup, NC_000006.11:g.33166708_33166711dup, NC_000006.11:g.33166707_33166711dup, NC_000006.11:g.33166706_33166711dup, NC_000006.11:g.33166694_33166711dup, NG_023374.1:g.6732_6742del, NG_023374.1:g.6735_6742del, NG_023374.1:g.6736_6742del, NG_023374.1:g.6737_6742del, NG_023374.1:g.6738_6742del, NG_023374.1:g.6739_6742del, NG_023374.1:g.6740_6742del, NG_023374.1:g.6741_6742del, NG_023374.1:g.6742del, NG_023374.1:g.6742dup, NG_023374.1:g.6741_6742dup, NG_023374.1:g.6740_6742dup, NG_023374.1:g.6739_6742dup, NG_023374.1:g.6738_6742dup, NG_023374.1:g.6737_6742dup, NG_023374.1:g.6725_6742dup, NT_113891.3:g.4610438_4610439dup, NT_113891.3:g.4610431_4610439del, NT_113891.3:g.4610434_4610439del, NT_113891.3:g.4610435_4610439del, NT_113891.3:g.4610436_4610439del, NT_113891.3:g.4610437_4610439del, NT_113891.3:g.4610438_4610439del, NT_113891.3:g.4610439del, NT_113891.3:g.4610439dup, NT_113891.3:g.4610437_4610439dup, NT_113891.3:g.4610436_4610439dup, NT_113891.3:g.4610435_4610439dup, NT_113891.3:g.4610434_4610439dup, NT_113891.3:g.4610433_4610439dup, NT_113891.3:g.4610432_4610439dup, NT_113891.3:g.4610439_4610440insAAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4393328_4393338del, NT_167248.2:g.4393331_4393338del, NT_167248.2:g.4393332_4393338del, NT_167248.2:g.4393333_4393338del, NT_167248.2:g.4393334_4393338del, NT_167248.2:g.4393335_4393338del, NT_167248.2:g.4393336_4393338del, NT_167248.2:g.4393337_4393338del, NT_167248.2:g.4393338del, NT_167248.2:g.4393338dup, NT_167248.2:g.4393337_4393338dup, NT_167248.2:g.4393336_4393338dup, NT_167248.2:g.4393335_4393338dup, NT_167248.2:g.4393334_4393338dup, NT_167248.2:g.4393333_4393338dup, NT_167248.2:g.4393321_4393338dup, NT_167248.1:g.4398924_4398934del, NT_167248.1:g.4398927_4398934del, NT_167248.1:g.4398928_4398934del, NT_167248.1:g.4398929_4398934del, NT_167248.1:g.4398930_4398934del, NT_167248.1:g.4398931_4398934del, NT_167248.1:g.4398932_4398934del, NT_167248.1:g.4398933_4398934del, NT_167248.1:g.4398934del, NT_167248.1:g.4398934dup, NT_167248.1:g.4398933_4398934dup, NT_167248.1:g.4398932_4398934dup, NT_167248.1:g.4398931_4398934dup, NT_167248.1:g.4398930_4398934dup, NT_167248.1:g.4398929_4398934dup, NT_167248.1:g.4398917_4398934dup, NT_167246.2:g.4618397_4618407del, NT_167246.2:g.4618400_4618407del, NT_167246.2:g.4618401_4618407del, NT_167246.2:g.4618402_4618407del, NT_167246.2:g.4618403_4618407del, NT_167246.2:g.4618404_4618407del, NT_167246.2:g.4618405_4618407del, NT_167246.2:g.4618406_4618407del, NT_167246.2:g.4618407del, NT_167246.2:g.4618407dup, NT_167246.2:g.4618406_4618407dup, NT_167246.2:g.4618405_4618407dup, NT_167246.2:g.4618404_4618407dup, NT_167246.2:g.4618403_4618407dup, NT_167246.2:g.4618402_4618407dup, NT_167246.2:g.4618390_4618407dup, NT_167246.1:g.4624017_4624027del, NT_167246.1:g.4624020_4624027del, NT_167246.1:g.4624021_4624027del, NT_167246.1:g.4624022_4624027del, NT_167246.1:g.4624023_4624027del, NT_167246.1:g.4624024_4624027del, NT_167246.1:g.4624025_4624027del, NT_167246.1:g.4624026_4624027del, NT_167246.1:g.4624027del, NT_167246.1:g.4624027dup, NT_167246.1:g.4624026_4624027dup, NT_167246.1:g.4624025_4624027dup, NT_167246.1:g.4624024_4624027dup, NT_167246.1:g.4624023_4624027dup, NT_167246.1:g.4624022_4624027dup, NT_167246.1:g.4624010_4624027dup, NT_167245.2:g.4442423_4442433del, NT_167245.2:g.4442426_4442433del, NT_167245.2:g.4442427_4442433del, NT_167245.2:g.4442428_4442433del, NT_167245.2:g.4442429_4442433del, NT_167245.2:g.4442430_4442433del, NT_167245.2:g.4442431_4442433del, NT_167245.2:g.4442432_4442433del, NT_167245.2:g.4442433del, NT_167245.2:g.4442433dup, NT_167245.2:g.4442432_4442433dup, NT_167245.2:g.4442431_4442433dup, NT_167245.2:g.4442430_4442433dup, NT_167245.2:g.4442429_4442433dup, NT_167245.2:g.4442428_4442433dup, NT_167245.2:g.4442416_4442433dup, NT_167245.1:g.4448008_4448018del, NT_167245.1:g.4448011_4448018del, NT_167245.1:g.4448012_4448018del, NT_167245.1:g.4448013_4448018del, NT_167245.1:g.4448014_4448018del, NT_167245.1:g.4448015_4448018del, NT_167245.1:g.4448016_4448018del, NT_167245.1:g.4448017_4448018del, NT_167245.1:g.4448018del, NT_167245.1:g.4448018dup, NT_167245.1:g.4448017_4448018dup, NT_167245.1:g.4448016_4448018dup, NT_167245.1:g.4448015_4448018dup, NT_167245.1:g.4448014_4448018dup, NT_167245.1:g.4448013_4448018dup, NT_167245.1:g.4448001_4448018dup, NT_167247.2:g.4634887dup, NT_167247.2:g.4634878_4634887del, NT_167247.2:g.4634881_4634887del, NT_167247.2:g.4634882_4634887del, NT_167247.2:g.4634883_4634887del, NT_167247.2:g.4634884_4634887del, NT_167247.2:g.4634885_4634887del, NT_167247.2:g.4634886_4634887del, NT_167247.2:g.4634887del, NT_167247.2:g.4634886_4634887dup, NT_167247.2:g.4634885_4634887dup, NT_167247.2:g.4634884_4634887dup, NT_167247.2:g.4634883_4634887dup, NT_167247.2:g.4634882_4634887dup, NT_167247.2:g.4634881_4634887dup, NT_167247.2:g.4634869_4634887dup, NT_113891.2:g.4610544_4610545dup, NT_113891.2:g.4610537_4610545del, NT_113891.2:g.4610540_4610545del, NT_113891.2:g.4610541_4610545del, NT_113891.2:g.4610542_4610545del, NT_113891.2:g.4610543_4610545del, NT_113891.2:g.4610544_4610545del, NT_113891.2:g.4610545del, NT_113891.2:g.4610545dup, NT_113891.2:g.4610543_4610545dup, NT_113891.2:g.4610542_4610545dup, NT_113891.2:g.4610541_4610545dup, NT_113891.2:g.4610540_4610545dup, NT_113891.2:g.4610539_4610545dup, NT_113891.2:g.4610538_4610545dup, NT_113891.2:g.4610545_4610546insAAAAAAAAAAAAAAAAAAAA, NT_167247.1:g.4640472dup, NT_167247.1:g.4640463_4640472del, NT_167247.1:g.4640466_4640472del, NT_167247.1:g.4640467_4640472del, NT_167247.1:g.4640468_4640472del, NT_167247.1:g.4640469_4640472del, NT_167247.1:g.4640470_4640472del, NT_167247.1:g.4640471_4640472del, NT_167247.1:g.4640472del, NT_167247.1:g.4640471_4640472dup, NT_167247.1:g.4640470_4640472dup, NT_167247.1:g.4640469_4640472dup, NT_167247.1:g.4640468_4640472dup, NT_167247.1:g.4640467_4640472dup, NT_167247.1:g.4640466_4640472dup, NT_167247.1:g.4640454_4640472dup

Select item 14911663183.

rs1491166318 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:33198913 (GRCh38)
6:33166690 (GRCh37)
Canonical SPDI:: NC_000006.12:33198912:CA:
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00219/26 (ALFA)
-=0.00471/129 (TOMMO)
HGVS:: NC_000006.12:g.33198913_33198914del, NC_000006.11:g.33166690_33166691del, NG_023374.1:g.6742_6743del, NT_113891.3:g.4610439dup, NT_113891.3:g.4610420del, NT_167248.2:g.4393317_4393318del, NT_167248.1:g.4398913_4398914del, NT_167246.2:g.4618386_4618387del, NT_167246.1:g.4624006_4624007del, NT_167245.2:g.4442412_4442413del, NT_167245.1:g.4447997_4447998del, NT_167247.2:g.4634887dup, NT_167247.2:g.4634867del, NT_113891.2:g.4610545dup, NT_113891.2:g.4610526del, NT_167247.1:g.4640472dup, NT_167247.1:g.4640452del

Select item 14907978944.

rs1490797894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33201423 (GRCh38)
6:33169200 (GRCh37)
Canonical SPDI:: NC_000006.12:33201422:C:T
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33201423C>T, NC_000006.11:g.33169200C>T, NG_023374.1:g.4233G>A, NT_113891.3:g.4612928C>T, NT_113891.2:g.4613034C>T, NT_167248.2:g.4395827C>T, NT_167248.1:g.4401423C>T, NT_167246.2:g.4620896C>T, NT_167246.1:g.4626516C>T, NT_167245.2:g.4444922C>T, NT_167245.1:g.4450507C>T, NT_167247.2:g.4637376C>T, NT_167247.1:g.4642961C>T, NM_006979.3:c.178C>T, NM_006979.2:c.178C>T, NM_001077516.2:c.178C>T, NM_001077516.1:c.178C>T, NP_008910.2:p.His60Tyr, NP_001070984.1:p.His60Tyr

Select item 14899436835.

rs1489943683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33203231 (GRCh38)
6:33171008 (GRCh37)
Canonical SPDI:: NC_000006.12:33203230:G:A
Gene:: SLC39A7 (Varview), HSD17B8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33203231G>A, NC_000006.11:g.33171008G>A, NG_023374.1:g.2425C>T, NT_113891.3:g.4614736G>A, NT_113891.2:g.4614842G>A, NT_167248.2:g.4397635G>A, NT_167248.1:g.4403231G>A, NT_167246.2:g.4622704G>A, NT_167246.1:g.4628324G>A, NT_167245.2:g.4446730G>A, NT_167245.1:g.4452315G>A, NT_167247.2:g.4639184G>A, NT_167247.1:g.4644769G>A

Select item 14894555876.

rs1489455587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33203127 (GRCh38)
6:33170904 (GRCh37)
Canonical SPDI:: NC_000006.12:33203126:A:G
Gene:: SLC39A7 (Varview), HSD17B8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33203127A>G, NC_000006.11:g.33170904A>G, NG_023374.1:g.2529T>C, NT_113891.3:g.4614632A>G, NT_113891.2:g.4614738A>G, NT_167248.2:g.4397531A>G, NT_167248.1:g.4403127A>G, NT_167246.2:g.4622600A>G, NT_167246.1:g.4628220A>G, NT_167245.2:g.4446626A>G, NT_167245.1:g.4452211A>G, NT_167247.2:g.4639080A>G, NT_167247.1:g.4644665A>G

Select item 14894390697.

rs1489439069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33204011 (GRCh38)
6:33171788 (GRCh37)
Canonical SPDI:: NC_000006.12:33204010:G:C
Gene:: SLC39A7 (Varview), HSD17B8 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.33204011G>C, NC_000006.11:g.33171788G>C, NG_023374.1:g.1645C>G, NT_113891.3:g.4615516G>C, NT_113891.2:g.4615622G>C, NT_167248.2:g.4398415G>C, NT_167248.1:g.4404011G>C, NT_167246.2:g.4623484G>C, NT_167246.1:g.4629104G>C, NT_167245.2:g.4447510G>C, NT_167245.1:g.4453095G>C, NT_167247.2:g.4639964G>C, NT_167247.1:g.4645549G>C, NM_006979.3:c.*198G>C, NM_006979.2:c.*198G>C, NM_001077516.2:c.*198G>C, NM_001077516.1:c.*198G>C, NM_001288777.2:c.*198G>C, NM_001288777.1:c.*198G>C

Select item 14892502438.

rs1489250243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33200229 (GRCh38)
6:33168006 (GRCh37)
Canonical SPDI:: NC_000006.12:33200228:C:T
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.33200229C>T, NC_000006.11:g.33168006C>T, NG_023374.1:g.5427G>A, NT_113891.3:g.4611734C>T, NT_113891.2:g.4611840C>T, NT_167248.2:g.4394633C>T, NT_167248.1:g.4400229C>T, NT_167246.2:g.4619702C>T, NT_167246.1:g.4625322C>T, NT_167245.2:g.4443728C>T, NT_167245.1:g.4449313C>T, NT_167247.2:g.4636182C>T, NT_167247.1:g.4641767C>T

Select item 14892389849.

rs1489238984 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:33199171 (GRCh38)
6:33166948 (GRCh37)
Canonical SPDI:: NC_000006.12:33199170:GGGGG:GGGG
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
HGVS:: NC_000006.12:g.33199175del, NC_000006.11:g.33166952del, NG_023374.1:g.6485del, NM_021976.5:c.481del, NM_021976.4:c.481del, NM_001270401.2:c.481del, NM_001270401.1:c.481del, NT_113891.3:g.4610680del, NT_113891.2:g.4610786del, NT_167248.2:g.4393579del, NT_167248.1:g.4399175del, NT_167246.2:g.4618648del, NT_167246.1:g.4624268del, NT_167245.2:g.4442674del, NT_167245.1:g.4448259del, NT_167247.2:g.4635128del, NT_167247.1:g.4640713del, XM_047419239.1:c.-224del, NP_068811.1:p.Gln161fs, NP_001257330.1:p.Gln161fs

Select item 148921072310.

rs1489210723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33199364 (GRCh38)
6:33167141 (GRCh37)
Canonical SPDI:: NC_000006.12:33199363:A:G
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.10774/1278 (ALFA)
G=0.06314/184 (KOREAN)
HGVS:: NC_000006.12:g.33199364A>G, NC_000006.11:g.33167141A>G, NG_023374.1:g.6292T>C, NM_021976.5:c.288T>C, NM_021976.4:c.288T>C, NM_001270401.2:c.288T>C, NM_001270401.1:c.288T>C, NT_113891.3:g.4610869A>G, NT_113891.2:g.4610975A>G, NT_167248.2:g.4393768A>G, NT_167248.1:g.4399364A>G, NT_167246.2:g.4618837A>G, NT_167246.1:g.4624457A>G, NT_167245.2:g.4442863A>G, NT_167245.1:g.4448448A>G, NT_167247.2:g.4635317A>G, NT_167247.1:g.4640902A>G, XM_047419239.1:c.-417T>C

Select item 148917940211.

rs1489179402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:33200424 (GRCh38)
6:33168201 (GRCh37)
Canonical SPDI:: NC_000006.12:33200423:T:G
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33200424T>G, NC_000006.11:g.33168201T>G, NG_023374.1:g.5232A>C, NM_021976.5:c.53A>C, NM_021976.4:c.53A>C, NM_001270401.2:c.53A>C, NM_001270401.1:c.53A>C, NT_113891.3:g.4611929T>G, NT_113891.2:g.4612035T>G, NT_167248.2:g.4394828T>G, NT_167248.1:g.4400424T>G, NT_167246.2:g.4619897T>G, NT_167246.1:g.4625517T>G, NT_167245.2:g.4443923T>G, NT_167245.1:g.4449508T>G, NT_167247.2:g.4636377T>G, NT_167247.1:g.4641962T>G, XM_005249278.4:c.13A>C, XM_005249278.3:c.13A>C, XM_005249278.2:c.13A>C, XM_005249278.1:c.13A>C, XM_047419238.1:c.13A>C, XM_047419239.1:c.-652A>C, NP_068811.1:p.Gln18Pro, NP_001257330.1:p.Gln18Pro, XP_005249335.1:p.Ser5Arg, XP_047275194.1:p.Ser5Arg

Select item 148884785712.

rs1488847857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33200878 (GRCh38)
6:33168655 (GRCh37)
Canonical SPDI:: NC_000006.12:33200877:G:A
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.33200878G>A, NC_000006.11:g.33168655G>A, NG_023374.1:g.4778C>T, NT_113891.3:g.4612383G>A, NT_113891.2:g.4612489G>A, NT_167248.2:g.4395282G>A, NT_167248.1:g.4400878G>A, NT_167246.2:g.4620351G>A, NT_167246.1:g.4625971G>A, NT_167245.2:g.4444377G>A, NT_167245.1:g.4449962G>A, NT_167247.2:g.4636831G>A, NT_167247.1:g.4642416G>A, NM_006979.3:c.-368G>A, NM_006979.2:c.-368G>A, NM_001077516.2:c.-65G>A, NM_001077516.1:c.-65G>A, NM_001288777.2:c.-156G>A, NM_001288777.1:c.-156G>A

Select item 148798690413.

rs1487986904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33199996 (GRCh38)
6:33167773 (GRCh37)
Canonical SPDI:: NC_000006.12:33199995:G:C
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33199996G>C, NC_000006.11:g.33167773G>C, NG_023374.1:g.5660C>G, NT_113891.3:g.4611501G>C, NT_113891.2:g.4611607G>C, NT_167248.2:g.4394400G>C, NT_167248.1:g.4399996G>C, NT_167246.2:g.4619469G>C, NT_167246.1:g.4625089G>C, NT_167245.2:g.4443495G>C, NT_167245.1:g.4449080G>C, NT_167247.2:g.4635949G>C, NT_167247.1:g.4641534G>C

Select item 148789732814.

rs1487897328 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:33204380 (GRCh38)
6:33172157 (GRCh37)
Canonical SPDI:: NC_000006.12:33204379:T:G
Gene:: SLC39A7 (Varview), HSD17B8 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33204380T>G, NC_000006.11:g.33172157T>G, NG_023374.1:g.1276A>C, NT_113891.3:g.4615885T>G, NT_113891.2:g.4615991T>G, NT_167248.2:g.4398784T>G, NT_167248.1:g.4404380T>G, NT_167246.2:g.4623853T>G, NT_167246.1:g.4629473T>G, NT_167245.2:g.4447879T>G, NT_167245.1:g.4453464T>G, NT_167247.2:g.4640333T>G, NT_167247.1:g.4645918T>G, NM_006979.3:c.*567T>G, NM_006979.2:c.*567T>G, NM_001077516.2:c.*567T>G, NM_001077516.1:c.*567T>G, NM_001288777.2:c.*567T>G, NM_001288777.1:c.*567T>G

Select item 148729331815.

rs1487293318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:33200938 (GRCh38)
6:33168715 (GRCh37)
Canonical SPDI:: NC_000006.12:33200937:G:T
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33200938G>T, NC_000006.11:g.33168715G>T, NG_023374.1:g.4718C>A, NT_113891.3:g.4612443G>T, NT_113891.2:g.4612549G>T, NT_167248.2:g.4395342G>T, NT_167248.1:g.4400938G>T, NT_167246.2:g.4620411G>T, NT_167246.1:g.4626031G>T, NT_167245.2:g.4444437G>T, NT_167245.1:g.4450022G>T, NT_167247.2:g.4636891G>T, NT_167247.1:g.4642476G>T, NM_006979.3:c.-308G>T, NM_006979.2:c.-308G>T, NM_001077516.2:c.-5G>T, NM_001077516.1:c.-5G>T, NM_001288777.2:c.-96G>T, NM_001288777.1:c.-96G>T

Select item 148721379816.

rs1487213798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33201467 (GRCh38)
6:33169244 (GRCh37)
Canonical SPDI:: NC_000006.12:33201466:A:G
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33201467A>G, NC_000006.11:g.33169244A>G, NG_023374.1:g.4189T>C, NT_113891.3:g.4612972A>G, NT_113891.2:g.4613078A>G, NT_167248.2:g.4395871A>G, NT_167248.1:g.4401467A>G, NT_167246.2:g.4620940A>G, NT_167246.1:g.4626560A>G, NT_167245.2:g.4444966A>G, NT_167245.1:g.4450551A>G, NT_167247.2:g.4637420A>G, NT_167247.1:g.4643005A>G, NM_006979.3:c.222A>G, NM_006979.2:c.222A>G, NM_001077516.2:c.222A>G, NM_001077516.1:c.222A>G

Select item 148700252217.

rs1487002522 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:33199508 (GRCh38)
6:33167285 (GRCh37)
Canonical SPDI:: NC_000006.12:33199506:TTT:T
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000006.12:g.33199508_33199509del, NC_000006.11:g.33167285_33167286del, NG_023374.1:g.6148_6149del, NG_016642.1:g.8_9del, NT_113891.3:g.4611013_4611014del, NT_113891.2:g.4611119_4611120del, NT_167248.2:g.4393912_4393913del, NT_167248.1:g.4399508_4399509del, NT_167246.2:g.4618981_4618982del, NT_167246.1:g.4624601_4624602del, NT_167245.2:g.4443007_4443008del, NT_167245.1:g.4448592_4448593del, NT_167247.2:g.4635461_4635462del, NT_167247.1:g.4641046_4641047del

Select item 148687285518.

rs1486872855 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33201875 (GRCh38)
6:33169652 (GRCh37)
Canonical SPDI:: NC_000006.12:33201874:T:C
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33201875T>C, NC_000006.11:g.33169652T>C, NG_023374.1:g.3781A>G, NT_113891.3:g.4613380T>C, NT_113891.2:g.4613486T>C, NT_167248.2:g.4396279T>C, NT_167248.1:g.4401875T>C, NT_167246.2:g.4621348T>C, NT_167246.1:g.4626968T>C, NT_167245.2:g.4445374T>C, NT_167245.1:g.4450959T>C, NT_167247.2:g.4637828T>C, NT_167247.1:g.4643413T>C, NM_006979.3:c.542T>C, NM_006979.2:c.542T>C, NM_001077516.2:c.542T>C, NM_001077516.1:c.542T>C, NM_001288777.2:c.167T>C, NM_001288777.1:c.167T>C, NP_008910.2:p.Leu181Pro, NP_001070984.1:p.Leu181Pro, NP_001275706.1:p.Leu56Pro

Select item 148545188019.

rs1485451880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33203657 (GRCh38)
6:33171434 (GRCh37)
Canonical SPDI:: NC_000006.12:33203656:G:C
Gene:: SLC39A7 (Varview), HSD17B8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33203657G>C, NC_000006.11:g.33171434G>C, NG_023374.1:g.1999C>G, NT_113891.3:g.4615162G>C, NT_113891.2:g.4615268G>C, NT_167248.2:g.4398061G>C, NT_167248.1:g.4403657G>C, NT_167246.2:g.4623130G>C, NT_167246.1:g.4628750G>C, NT_167245.2:g.4447156G>C, NT_167245.1:g.4452741G>C, NT_167247.2:g.4639610G>C, NT_167247.1:g.4645195G>C, NM_006979.3:c.1254G>C, NM_006979.2:c.1254G>C, NM_001077516.2:c.1254G>C, NM_001077516.1:c.1254G>C, NM_001288777.2:c.879G>C, NM_001288777.1:c.879G>C, NP_008910.2:p.Trp418Cys, NP_001070984.1:p.Trp418Cys, NP_001275706.1:p.Trp293Cys

Select item 148526039220.

rs1485260392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33199528 (GRCh38)
6:33167305 (GRCh37)
Canonical SPDI:: NC_000006.12:33199527:C:T
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33199528C>T, NC_000006.11:g.33167305C>T, NG_023374.1:g.6128G>A, NG_016642.1:g.28C>T, NT_113891.3:g.4611033C>T, NT_113891.2:g.4611139C>T, NT_167248.2:g.4393932C>T, NT_167248.1:g.4399528C>T, NT_167246.2:g.4619001C>T, NT_167246.1:g.4624621C>T, NT_167245.2:g.4443027C>T, NT_167245.1:g.4448612C>T, NT_167247.2:g.4635481C>T, NT_167247.1:g.4641066C>T

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