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Select item 14915855021.

rs1491585502 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCC [Show Flanks]
Chromosome:: 2:24634709 (GRCh38)
2:24857579 (GRCh37)
Canonical SPDI:: NC_000002.12:24634709:CC:CCGCC
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCGCC=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.24634711_24634712insGCC, NC_000002.11:g.24857580_24857581insGCC, NG_029014.2:g.147662_147663insGCC

Select item 14915790612.

rs1491579061 has merged into rs869212842 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:24552366 (GRCh38)
2:24775235 (GRCh37)
Canonical SPDI:: NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24552353:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.24552366_24552384del, NC_000002.12:g.24552367_24552384del, NC_000002.12:g.24552368_24552384del, NC_000002.12:g.24552369_24552384del, NC_000002.12:g.24552370_24552384del, NC_000002.12:g.24552371_24552384del, NC_000002.12:g.24552372_24552384del, NC_000002.12:g.24552373_24552384del, NC_000002.12:g.24552374_24552384del, NC_000002.12:g.24552375_24552384del, NC_000002.12:g.24552376_24552384del, NC_000002.12:g.24552377_24552384del, NC_000002.12:g.24552378_24552384del, NC_000002.12:g.24552379_24552384del, NC_000002.12:g.24552380_24552384del, NC_000002.12:g.24552381_24552384del, NC_000002.12:g.24552382_24552384del, NC_000002.12:g.24552383_24552384del, NC_000002.12:g.24552384del, NC_000002.12:g.24552384dup, NC_000002.12:g.24552383_24552384dup, NC_000002.12:g.24552382_24552384dup, NC_000002.12:g.24552381_24552384dup, NC_000002.12:g.24552380_24552384dup, NC_000002.12:g.24552379_24552384dup, NC_000002.11:g.24775235_24775253del, NC_000002.11:g.24775236_24775253del, NC_000002.11:g.24775237_24775253del, NC_000002.11:g.24775238_24775253del, NC_000002.11:g.24775239_24775253del, NC_000002.11:g.24775240_24775253del, NC_000002.11:g.24775241_24775253del, NC_000002.11:g.24775242_24775253del, NC_000002.11:g.24775243_24775253del, NC_000002.11:g.24775244_24775253del, NC_000002.11:g.24775245_24775253del, NC_000002.11:g.24775246_24775253del, NC_000002.11:g.24775247_24775253del, NC_000002.11:g.24775248_24775253del, NC_000002.11:g.24775249_24775253del, NC_000002.11:g.24775250_24775253del, NC_000002.11:g.24775251_24775253del, NC_000002.11:g.24775252_24775253del, NC_000002.11:g.24775253del, NC_000002.11:g.24775253dup, NC_000002.11:g.24775252_24775253dup, NC_000002.11:g.24775251_24775253dup, NC_000002.11:g.24775250_24775253dup, NC_000002.11:g.24775249_24775253dup, NC_000002.11:g.24775248_24775253dup, NG_029014.2:g.65317_65335del, NG_029014.2:g.65318_65335del, NG_029014.2:g.65319_65335del, NG_029014.2:g.65320_65335del, NG_029014.2:g.65321_65335del, NG_029014.2:g.65322_65335del, NG_029014.2:g.65323_65335del, NG_029014.2:g.65324_65335del, NG_029014.2:g.65325_65335del, NG_029014.2:g.65326_65335del, NG_029014.2:g.65327_65335del, NG_029014.2:g.65328_65335del, NG_029014.2:g.65329_65335del, NG_029014.2:g.65330_65335del, NG_029014.2:g.65331_65335del, NG_029014.2:g.65332_65335del, NG_029014.2:g.65333_65335del, NG_029014.2:g.65334_65335del, NG_029014.2:g.65335del, NG_029014.2:g.65335dup, NG_029014.2:g.65334_65335dup, NG_029014.2:g.65333_65335dup, NG_029014.2:g.65332_65335dup, NG_029014.2:g.65331_65335dup, NG_029014.2:g.65330_65335dup

Select item 14915736273.

rs1491573627 has merged into rs530645429 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCCCCCC>-,C,CC,CCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 2:24634712 (GRCh38)
2:24857581 (GRCh37)
Canonical SPDI:: NC_000002.12:24634708:CCCCCCCCCCCCCC:CCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000002.12:24634708:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.3946/1976 (1000Genomes)
HGVS:: NC_000002.12:g.24634712_24634722del, NC_000002.12:g.24634713_24634722del, NC_000002.12:g.24634714_24634722del, NC_000002.12:g.24634716_24634722del, NC_000002.12:g.24634720_24634722del, NC_000002.12:g.24634721_24634722del, NC_000002.12:g.24634722del, NC_000002.12:g.24634722dup, NC_000002.12:g.24634721_24634722dup, NC_000002.12:g.24634720_24634722dup, NC_000002.12:g.24634719_24634722dup, NC_000002.12:g.24634718_24634722dup, NC_000002.12:g.24634717_24634722dup, NC_000002.12:g.24634716_24634722dup, NC_000002.12:g.24634715_24634722dup, NC_000002.12:g.24634714_24634722dup, NC_000002.12:g.24634713_24634722dup, NC_000002.12:g.24634712_24634722dup, NC_000002.12:g.24634711_24634722dup, NC_000002.12:g.24634710_24634722dup, NC_000002.12:g.24634709_24634722dup, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCC, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCCC, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCCCC, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCCCCC, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCCCCCC, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCCCCCCC, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCCCCCCCC, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000002.12:g.24634722_24634723insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000002.11:g.24857581_24857591del, NC_000002.11:g.24857582_24857591del, NC_000002.11:g.24857583_24857591del, NC_000002.11:g.24857585_24857591del, NC_000002.11:g.24857589_24857591del, NC_000002.11:g.24857590_24857591del, NC_000002.11:g.24857591del, NC_000002.11:g.24857591dup, NC_000002.11:g.24857590_24857591dup, NC_000002.11:g.24857589_24857591dup, NC_000002.11:g.24857588_24857591dup, NC_000002.11:g.24857587_24857591dup, NC_000002.11:g.24857586_24857591dup, NC_000002.11:g.24857585_24857591dup, NC_000002.11:g.24857584_24857591dup, NC_000002.11:g.24857583_24857591dup, NC_000002.11:g.24857582_24857591dup, NC_000002.11:g.24857581_24857591dup, NC_000002.11:g.24857580_24857591dup, NC_000002.11:g.24857579_24857591dup, NC_000002.11:g.24857578_24857591dup, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCC, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCCC, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCCCC, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCCCCC, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCCCCCC, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCCCCCCC, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCCCCCCCC, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000002.11:g.24857591_24857592insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_029014.2:g.147663_147673del, NG_029014.2:g.147664_147673del, NG_029014.2:g.147665_147673del, NG_029014.2:g.147667_147673del, NG_029014.2:g.147671_147673del, NG_029014.2:g.147672_147673del, NG_029014.2:g.147673del, NG_029014.2:g.147673dup, NG_029014.2:g.147672_147673dup, NG_029014.2:g.147671_147673dup, NG_029014.2:g.147670_147673dup, NG_029014.2:g.147669_147673dup, NG_029014.2:g.147668_147673dup, NG_029014.2:g.147667_147673dup, NG_029014.2:g.147666_147673dup, NG_029014.2:g.147665_147673dup, NG_029014.2:g.147664_147673dup, NG_029014.2:g.147663_147673dup, NG_029014.2:g.147662_147673dup, NG_029014.2:g.147661_147673dup, NG_029014.2:g.147660_147673dup, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCC, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCCC, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCCCC, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCCCCC, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCCCCCC, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCCCCCCC, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCCCCCCCC, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_029014.2:g.147673_147674insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

Select item 14915667364.

rs1491566736 has merged into rs148901218 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:24747337 (GRCh38)
2:24970206 (GRCh37)
Canonical SPDI:: NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24747327:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.24747337_24747348del, NC_000002.12:g.24747339_24747348del, NC_000002.12:g.24747340_24747348del, NC_000002.12:g.24747341_24747348del, NC_000002.12:g.24747342_24747348del, NC_000002.12:g.24747343_24747348del, NC_000002.12:g.24747344_24747348del, NC_000002.12:g.24747345_24747348del, NC_000002.12:g.24747346_24747348del, NC_000002.12:g.24747347_24747348del, NC_000002.12:g.24747348del, NC_000002.12:g.24747328_24747348T[21]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.24747348dup, NC_000002.12:g.24747328_24747348T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.24747328_24747348T[22]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.24747328_24747348T[22]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.24747347_24747348dup, NC_000002.12:g.24747328_24747348T[23]ATTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.24747346_24747348dup, NC_000002.12:g.24747328_24747348T[24]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.24747345_24747348dup, NC_000002.12:g.24747341_24747348dup, NC_000002.12:g.24747340_24747348dup, NC_000002.12:g.24747339_24747348dup, NC_000002.12:g.24747338_24747348dup, NC_000002.12:g.24747337_24747348dup, NC_000002.12:g.24747336_24747348dup, NC_000002.12:g.24747335_24747348dup, NC_000002.12:g.24747333_24747348dup, NC_000002.12:g.24747332_24747348dup, NC_000002.12:g.24747330_24747348dup, NC_000002.12:g.24747329_24747348dup, NC_000002.12:g.24747348_24747349insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.24747348_24747349insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.24747348_24747349insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.24747348_24747349insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.24747348_24747349insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.24747348_24747349insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.24747348_24747349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.24970206_24970217del, NC_000002.11:g.24970208_24970217del, NC_000002.11:g.24970209_24970217del, NC_000002.11:g.24970210_24970217del, NC_000002.11:g.24970211_24970217del, NC_000002.11:g.24970212_24970217del, NC_000002.11:g.24970213_24970217del, NC_000002.11:g.24970214_24970217del, NC_000002.11:g.24970215_24970217del, NC_000002.11:g.24970216_24970217del, NC_000002.11:g.24970217del, NC_000002.11:g.24970197_24970217T[21]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.24970217dup, NC_000002.11:g.24970197_24970217T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.24970197_24970217T[22]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.24970197_24970217T[22]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.24970216_24970217dup, NC_000002.11:g.24970197_24970217T[23]ATTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.24970215_24970217dup, NC_000002.11:g.24970197_24970217T[24]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.24970214_24970217dup, NC_000002.11:g.24970210_24970217dup, NC_000002.11:g.24970209_24970217dup, NC_000002.11:g.24970208_24970217dup, NC_000002.11:g.24970207_24970217dup, NC_000002.11:g.24970206_24970217dup, NC_000002.11:g.24970205_24970217dup, NC_000002.11:g.24970204_24970217dup, NC_000002.11:g.24970202_24970217dup, NC_000002.11:g.24970201_24970217dup, NC_000002.11:g.24970199_24970217dup, NC_000002.11:g.24970198_24970217dup, NC_000002.11:g.24970217_24970218insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.24970217_24970218insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.24970217_24970218insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.24970217_24970218insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.24970217_24970218insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.24970217_24970218insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.24970217_24970218insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029014.2:g.260288_260299del, NG_029014.2:g.260290_260299del, NG_029014.2:g.260291_260299del, NG_029014.2:g.260292_260299del, NG_029014.2:g.260293_260299del, NG_029014.2:g.260294_260299del, NG_029014.2:g.260295_260299del, NG_029014.2:g.260296_260299del, NG_029014.2:g.260297_260299del, NG_029014.2:g.260298_260299del, NG_029014.2:g.260299del, NG_029014.2:g.260279_260299T[21]CTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029014.2:g.260299dup, NG_029014.2:g.260279_260299T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029014.2:g.260279_260299T[22]CTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029014.2:g.260279_260299T[22]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_029014.2:g.260298_260299dup, NG_029014.2:g.260279_260299T[23]ATTTTTTTTTTTTTTTTTTTTTT[1], NG_029014.2:g.260297_260299dup, NG_029014.2:g.260279_260299T[24]CTTTTTTTTTTTTTTTTTTTTTT[1], NG_029014.2:g.260296_260299dup, NG_029014.2:g.260292_260299dup, NG_029014.2:g.260291_260299dup, NG_029014.2:g.260290_260299dup, NG_029014.2:g.260289_260299dup, NG_029014.2:g.260288_260299dup, NG_029014.2:g.260287_260299dup, NG_029014.2:g.260286_260299dup, NG_029014.2:g.260284_260299dup, NG_029014.2:g.260283_260299dup, NG_029014.2:g.260281_260299dup, NG_029014.2:g.260280_260299dup, NG_029014.2:g.260299_260300insTTTTTTTTTTTTTTTTTTTTTT, NG_029014.2:g.260299_260300insTTTTTTTTTTTTTTTTTTTTTTT, NG_029014.2:g.260299_260300insTTTTTTTTTTTTTTTTTTTTTTTT, NG_029014.2:g.260299_260300insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029014.2:g.260299_260300insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029014.2:g.260299_260300insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029014.2:g.260299_260300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915664615.

rs1491566461 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:24768516 (GRCh38)
2:24991385 (GRCh37)
Canonical SPDI:: NC_000002.12:24768515:CA:
Gene:: NCOA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00431/16 (TWINSUK)
-=0.00649/25 (ALSPAC)
HGVS:: NC_000002.12:g.24768516_24768517del, NC_000002.11:g.24991385_24991386del, NG_029014.2:g.281467_281468del, NM_003743.5:c.*125_*126del, NM_003743.4:c.*125_*126del, NM_147223.3:c.*308_*309del, NM_147223.2:c.*308_*309del, NM_147233.2:c.*125_*126del, NM_001362950.1:c.*308_*309del, NM_001362955.1:c.*308_*309del, NM_001362952.1:c.*308_*309del, NM_001362954.1:c.*305_*306del, XM_047446152.1:c.*125_*126del, XM_047446153.1:c.*125_*126del, XM_047446154.1:c.*125_*126del, XM_047446155.1:c.*125_*126del, XM_047446156.1:c.*125_*126del, XM_047446151.1:c.*125_*126del, XM_047446157.1:c.*125_*126del, XM_047446158.1:c.*125_*126del

Select item 14915659896.

rs1491565989 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:24629479 (GRCh38)
2:24852348 (GRCh37)
Canonical SPDI:: NC_000002.12:24629478:GT:
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.24629479_24629480del, NC_000002.11:g.24852348_24852349del, NG_029014.2:g.142430_142431del

Select item 14915647377.

rs1491564737 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:24747328 (GRCh38)
2:24970198 (GRCh37)
Canonical SPDI:: NC_000002.12:24747328::C
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.24747328_24747329insC, NC_000002.11:g.24970197_24970198insC, NG_029014.2:g.260279_260280insC

Select item 14915641528.

rs1491564152 has merged into rs36037041 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:24666651 (GRCh38)
2:24889520 (GRCh37)
Canonical SPDI:: NC_000002.12:24666638:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:24666638:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:24666638:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:24666638:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:24666638:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:24666638:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:24666638:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0.000127/1 (ALFA)
-=0.437935/115917 (TOPMED)
T=0.454423/1685 (TWINSUK)
T=0.462636/1783 (ALSPAC)
-=0.466653/2337 (1000Genomes)
HGVS:: NC_000002.12:g.24666651_24666652del, NC_000002.12:g.24666652del, NC_000002.12:g.24666652dup, NC_000002.12:g.24666651_24666652dup, NC_000002.12:g.24666648_24666652dup, NC_000002.12:g.24666643_24666652dup, NC_000002.12:g.24666639_24666652dup, NC_000002.11:g.24889520_24889521del, NC_000002.11:g.24889521del, NC_000002.11:g.24889521dup, NC_000002.11:g.24889520_24889521dup, NC_000002.11:g.24889517_24889521dup, NC_000002.11:g.24889512_24889521dup, NC_000002.11:g.24889508_24889521dup, NG_029014.2:g.179602_179603del, NG_029014.2:g.179603del, NG_029014.2:g.179603dup, NG_029014.2:g.179602_179603dup, NG_029014.2:g.179599_179603dup, NG_029014.2:g.179594_179603dup, NG_029014.2:g.179590_179603dup

Select item 14915515849.

rs1491551584 has merged into rs1491475105 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT,TTTT [Show Flanks]
Chromosome:: 2:24642340 (GRCh38)
2:24865209 (GRCh37)
Canonical SPDI:: NC_000002.12:24642335:TTTTTT:TTTT,NC_000002.12:24642335:TTTTTT:TTTTTTT,NC_000002.12:24642335:TTTTTT:TTTTTTTT
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000002.12:g.24642340_24642341del, NC_000002.12:g.24642341dup, NC_000002.12:g.24642340_24642341dup, NC_000002.11:g.24865209_24865210del, NC_000002.11:g.24865210dup, NC_000002.11:g.24865209_24865210dup, NG_029014.2:g.155291_155292del, NG_029014.2:g.155292dup, NG_029014.2:g.155291_155292dup

Select item 149153394810.

rs1491533948 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA [Show Flanks]
Chromosome:: 2:24523605 (GRCh38)
2:24746475 (GRCh37)
Canonical SPDI:: NC_000002.12:24523605:A:AGAA
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAA=0./0 (ALFA)
AGA=0.00006/1 (GnomAD)
HGVS:: NC_000002.12:g.24523606_24523607insGAA, NC_000002.11:g.24746475_24746476insGAA, NG_029014.2:g.36557_36558insGAA

Select item 149152761611.

rs1491527616 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:24722989 (GRCh38)
2:24945858 (GRCh37)
Canonical SPDI:: NC_000002.12:24722988:CA:
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.24722989_24722990del, NC_000002.11:g.24945858_24945859del, NG_029014.2:g.235940_235941del

Select item 149152704512.

rs1491527045 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTGTTTTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 149152437713.

rs1491524377 has merged into rs111849898 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 2:24637711 (GRCh38)
2:24860580 (GRCh37)
Canonical SPDI:: NC_000002.12:24637706:TTTTTT:TTTT,NC_000002.12:24637706:TTTTTT:TTTTT,NC_000002.12:24637706:TTTTTT:TTTTTTT
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0.00006/1 (ALFA)
-=0.01167/7 (NorthernSweden)
-=0.02405/24 (GoNL)
-=0.04528/227 (1000Genomes)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000002.12:g.24637711_24637712del, NC_000002.12:g.24637712del, NC_000002.12:g.24637712dup, NC_000002.11:g.24860580_24860581del, NC_000002.11:g.24860581del, NC_000002.11:g.24860581dup, NG_029014.2:g.150662_150663del, NG_029014.2:g.150663del, NG_029014.2:g.150663dup

Select item 149151677014.

rs1491516770 has merged into rs60674114 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAATAATAATAATAATA>-,ATA,ATAATA,ATAATAATA,ATAATAATAATA,ATAATAATAATAATA,ATAATAATAATAATAATAATA,ATAATAATAATAATAATAATAATA,ATAATAATAATAATAATAATAATAATA,ATAATAATAATAATAATAATAATAATAATA,ATAATAATAATAATAATAATAATAATAATAATA [Show Flanks]
Chromosome:: 2:24700164 (GRCh38)
2:24923033 (GRCh37)
Canonical SPDI:: NC_000002.12:24700143:TAATAATAATAATAATAATAATAATAATAATAATAATA:TAATAATAATAATAATAATA,NC_000002.12:24700143:TAATAATAATAATAATAATAATAATAATAATAATAATA:TAATAATAATAATAATAATAATA,NC_000002.12:24700143:TAATAATAATAATAATAATAATAATAATAATAATAATA:TAATAATAATAATAATAATAATAATA,NC_000002.12:24700143:TAATAATAATAATAATAATAATAATAATAATAATAATA:TAATAATAATAATAATAATAATAATAATA,NC_000002.12:24700143:TAATAATAATAATAATAATAATAATAATAATAATAATA:TAATAATAATAATAATAATAATAATAATAATA,NC_000002.12:24700143:TAATAATAATAATAATAATAATAATAATAATAATAATA:TAATAATAATAATAATAATAATAATAATAATAATA,NC_000002.12:24700143:TAATAATAATAATAATAATAATAATAATAATAATAATA:TAATAATAATAATAATAATAATAATAATAATAATAATAATA,NC_000002.12:24700143:TAATAATAATAATAATAATAATAATAATAATAATAATA:TAATAATAATAATAATAATAATAATAATAATAATAATAATAATA,NC_000002.12:24700143:TAATAATAATAATAATAATAATAATAATAATAATAATA:TAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATA,NC_000002.12:24700143:TAATAATAATAATAATAATAATAATAATAATAATAATA:TAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATA,NC_000002.12:24700143:TAATAATAATAATAATAATAATAATAATAATAATAATA:TAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATA
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATAATAATAATAATAATAATA=0./0 (ALFA)
TAA=0.229/1147 (1000Genomes)
HGVS:: NC_000002.12:g.24700146ATA[6], NC_000002.12:g.24700146ATA[7], NC_000002.12:g.24700146ATA[8], NC_000002.12:g.24700146ATA[9], NC_000002.12:g.24700146ATA[10], NC_000002.12:g.24700146ATA[11], NC_000002.12:g.24700146ATA[13], NC_000002.12:g.24700146ATA[14], NC_000002.12:g.24700146ATA[15], NC_000002.12:g.24700146ATA[16], NC_000002.12:g.24700146ATA[17], NC_000002.11:g.24923015ATA[6], NC_000002.11:g.24923015ATA[7], NC_000002.11:g.24923015ATA[8], NC_000002.11:g.24923015ATA[9], NC_000002.11:g.24923015ATA[10], NC_000002.11:g.24923015ATA[11], NC_000002.11:g.24923015ATA[13], NC_000002.11:g.24923015ATA[14], NC_000002.11:g.24923015ATA[15], NC_000002.11:g.24923015ATA[16], NC_000002.11:g.24923015ATA[17], NG_029014.2:g.213097ATA[6], NG_029014.2:g.213097ATA[7], NG_029014.2:g.213097ATA[8], NG_029014.2:g.213097ATA[9], NG_029014.2:g.213097ATA[10], NG_029014.2:g.213097ATA[11], NG_029014.2:g.213097ATA[13], NG_029014.2:g.213097ATA[14], NG_029014.2:g.213097ATA[15], NG_029014.2:g.213097ATA[16], NG_029014.2:g.213097ATA[17]

Select item 149151259915.

rs1491512599 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:24608705 (GRCh38)
2:24831575 (GRCh37)
Canonical SPDI:: NC_000002.12:24608705::G
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.24608705_24608706insG, NC_000002.11:g.24831574_24831575insG, NG_029014.2:g.121656_121657insG

Select item 149149659916.

rs1491496599 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:24729499 (GRCh38)
2:24952368 (GRCh37)
Canonical SPDI:: NC_000002.12:24729498:AG:
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant,splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.24729499_24729500del, NC_000002.11:g.24952368_24952369del, NG_029014.2:g.242450_242451del

Select item 149149177217.

rs1491491772 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:24722826 (GRCh38)
2:24945696 (GRCh37)
Canonical SPDI:: NC_000002.12:24722826:AAAAAA:AAAAAAA
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000049/13 (TOPMED)
A=0.00046/8 (TOMMO)
A=0.001638/3 (Korea1K)
HGVS:: NC_000002.12:g.24722832dup, NC_000002.11:g.24945701dup, NG_029014.2:g.235783dup

Select item 149148809918.

rs1491488099 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:24634708 (GRCh38)
2:24857577 (GRCh37)
Canonical SPDI:: NC_000002.12:24634707:AC:
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.24634708_24634709del, NC_000002.11:g.24857577_24857578del, NG_029014.2:g.147659_147660del

Select item 149147510519.

rs1491475105 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT,TTTT [Show Flanks]
Chromosome:: 2:24642340 (GRCh38)
2:24865209 (GRCh37)
Canonical SPDI:: NC_000002.12:24642335:TTTTTT:TTTT,NC_000002.12:24642335:TTTTTT:TTTTTTT,NC_000002.12:24642335:TTTTTT:TTTTTTTT
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000002.12:g.24642340_24642341del, NC_000002.12:g.24642341dup, NC_000002.12:g.24642340_24642341dup, NC_000002.11:g.24865209_24865210del, NC_000002.11:g.24865210dup, NC_000002.11:g.24865209_24865210dup, NG_029014.2:g.155291_155292del, NG_029014.2:g.155292dup, NG_029014.2:g.155291_155292dup

Select item 149146301320.

rs1491463013 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:24514322 (GRCh38)
2:24737191 (GRCh37)
Canonical SPDI:: NC_000002.12:24514320:AGA:A
Gene:: NCOA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.24514322_24514323del, NC_000002.11:g.24737191_24737192del, NG_029014.2:g.27273_27274del

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