SNP Links for Gene (Select 284403) - SNP

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Select item 14915610621.

rs1491561062 has merged into rs528577321 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGAGAGGGAGACCGTGGGGAGA>-,GGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGA [Show Flanks]
Chromosome:: 19:36070019 (GRCh38)
19:36560921 (GRCh37)
Canonical SPDI:: NC_000019.10:36069991:GAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGA:GAGAGGGAGAGGGAGACCGTGGGGAGA,NC_000019.10:36069991:GAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGA:GAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGA
Gene:: WDR62 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGGGAGAGGGAGACCGTGGGGAGA=0.030966/415 (ALFA)
-=0.122604/614 (1000Genomes)
-=0.147685/19832 (GnomAD)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000019.10:g.36069996GGGAGAGGGAGACCGTGGGGAGA[1], NC_000019.10:g.36069996GGGAGAGGGAGACCGTGGGGAGA[3], NC_000019.9:g.36560898GGGAGAGGGAGACCGTGGGGAGA[1], NC_000019.9:g.36560898GGGAGAGGGAGACCGTGGGGAGA[3], NG_028101.1:g.20116GGGAGAGGGAGACCGTGGGGAGA[1], NG_028101.1:g.20116GGGAGAGGGAGACCGTGGGGAGA[3]

Select item 14915179322.

rs1491517932 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,T [Show Flanks]
Chromosome:: 19:36070161 (GRCh38)
19:36561064 (GRCh37)
Canonical SPDI:: NC_000019.10:36070161::G,NC_000019.10:36070161::T
Gene:: WDR62 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.36070161_36070162insG, NC_000019.10:g.36070161_36070162insT, NC_000019.9:g.36561063_36561064insG, NC_000019.9:g.36561063_36561064insT, NG_028101.1:g.20281_20282insG, NG_028101.1:g.20281_20282insT

Select item 14914872833.

rs1491487283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:36069126 (GRCh38)
19:36560029 (GRCh37)
Canonical SPDI:: NC_000019.10:36069126:T:TT
Gene:: WDR62 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.36069127dup, NC_000019.9:g.36560029dup, NG_028101.1:g.19247dup

Select item 14914821344.

rs1491482134 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:36070161 (GRCh38)
19:36561063 (GRCh37)
Canonical SPDI:: NC_000019.10:36070160:AC:
Gene:: WDR62 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000019.10:g.36070161_36070162del, NC_000019.9:g.36561063_36561064del, NG_028101.1:g.20281_20282del

Select item 14913377465.

rs1491337746 has merged into rs368894000 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 19:36075050 (GRCh38)
19:36565952 (GRCh37)
Canonical SPDI:: NC_000019.10:36075040:TTTTTTTTTTT:TTTTTTTTT,NC_000019.10:36075040:TTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:36075040:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: WDR62 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.00179/30 (TOMMO)
HGVS:: NC_000019.10:g.36075050_36075051del, NC_000019.10:g.36075051del, NC_000019.10:g.36075051dup, NC_000019.9:g.36565952_36565953del, NC_000019.9:g.36565953del, NC_000019.9:g.36565953dup, NG_028101.1:g.25170_25171del, NG_028101.1:g.25171del, NG_028101.1:g.25171dup

Select item 14913209376.

rs1491320937 has merged into rs59704929 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 19:36062962 (GRCh38)
19:36553864 (GRCh37)
Canonical SPDI:: NC_000019.10:36062952:TTTTTTTTTTT:TTTTTTTTT,NC_000019.10:36062952:TTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:36062952:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:36062952:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:36062952:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:36062952:TTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: WDR62 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
T=0.093333/56 (NorthernSweden)
T=0.1/4 (GENOME_DK)
T=0.12024/120 (GoNL)
T=0.133108/513 (ALSPAC)
T=0.13808/512 (TWINSUK)
T=0.183307/918 (1000Genomes)
HGVS:: NC_000019.10:g.36062962_36062963del, NC_000019.10:g.36062963del, NC_000019.10:g.36062963dup, NC_000019.10:g.36062962_36062963dup, NC_000019.10:g.36062961_36062963dup, NC_000019.10:g.36062959_36062963dup, NC_000019.9:g.36553864_36553865del, NC_000019.9:g.36553865del, NC_000019.9:g.36553865dup, NC_000019.9:g.36553864_36553865dup, NC_000019.9:g.36553863_36553865dup, NC_000019.9:g.36553861_36553865dup, NG_028101.1:g.13082_13083del, NG_028101.1:g.13083del, NG_028101.1:g.13083dup, NG_028101.1:g.13082_13083dup, NG_028101.1:g.13081_13083dup, NG_028101.1:g.13079_13083dup

Select item 14912260307.

rs1491226030 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:36085414 (GRCh38)
19:36576316 (GRCh37)
Canonical SPDI:: NC_000019.10:36085413:CT:
Gene:: WDR62 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01071/174 (ALFA)
-=0.01062/68 (1000Genomes)
-=0.0303/1328 (GnomAD)
HGVS:: NC_000019.10:g.36085414_36085415del, NC_000019.9:g.36576316_36576317del, NG_028101.1:g.35534_35535del

Select item 14912171288.

rs1491217128 has merged into rs35753706 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:36085425 (GRCh38)
19:36576327 (GRCh37)
Canonical SPDI:: NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36085414:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: WDR62 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.36085425_36085437del, NC_000019.10:g.36085426_36085437del, NC_000019.10:g.36085428_36085437del, NC_000019.10:g.36085429_36085437del, NC_000019.10:g.36085430_36085437del, NC_000019.10:g.36085431_36085437del, NC_000019.10:g.36085432_36085437del, NC_000019.10:g.36085433_36085437del, NC_000019.10:g.36085434_36085437del, NC_000019.10:g.36085435_36085437del, NC_000019.10:g.36085436_36085437del, NC_000019.10:g.36085437del, NC_000019.10:g.36085437dup, NC_000019.10:g.36085436_36085437dup, NC_000019.10:g.36085435_36085437dup, NC_000019.10:g.36085434_36085437dup, NC_000019.10:g.36085433_36085437dup, NC_000019.10:g.36085432_36085437dup, NC_000019.10:g.36085431_36085437dup, NC_000019.10:g.36085430_36085437dup, NC_000019.10:g.36085429_36085437dup, NC_000019.10:g.36085428_36085437dup, NC_000019.10:g.36085427_36085437dup, NC_000019.10:g.36085426_36085437dup, NC_000019.10:g.36085425_36085437dup, NC_000019.10:g.36085424_36085437dup, NC_000019.10:g.36085423_36085437dup, NC_000019.10:g.36085422_36085437dup, NC_000019.10:g.36085421_36085437dup, NC_000019.10:g.36085420_36085437dup, NC_000019.10:g.36085419_36085437dup, NC_000019.10:g.36085418_36085437dup, NC_000019.10:g.36085417_36085437dup, NC_000019.10:g.36085416_36085437dup, NC_000019.10:g.36085415_36085437dup, NC_000019.10:g.36085437_36085438insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.36085437_36085438insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.36085437_36085438insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.36085437_36085438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.36085437_36085438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.36085437_36085438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.36085437_36085438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.36085437_36085438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36576327_36576339del, NC_000019.9:g.36576328_36576339del, NC_000019.9:g.36576330_36576339del, NC_000019.9:g.36576331_36576339del, NC_000019.9:g.36576332_36576339del, NC_000019.9:g.36576333_36576339del, NC_000019.9:g.36576334_36576339del, NC_000019.9:g.36576335_36576339del, NC_000019.9:g.36576336_36576339del, NC_000019.9:g.36576337_36576339del, NC_000019.9:g.36576338_36576339del, NC_000019.9:g.36576339del, NC_000019.9:g.36576339dup, NC_000019.9:g.36576338_36576339dup, NC_000019.9:g.36576337_36576339dup, NC_000019.9:g.36576336_36576339dup, NC_000019.9:g.36576335_36576339dup, NC_000019.9:g.36576334_36576339dup, NC_000019.9:g.36576333_36576339dup, NC_000019.9:g.36576332_36576339dup, NC_000019.9:g.36576331_36576339dup, NC_000019.9:g.36576330_36576339dup, NC_000019.9:g.36576329_36576339dup, NC_000019.9:g.36576328_36576339dup, NC_000019.9:g.36576327_36576339dup, NC_000019.9:g.36576326_36576339dup, NC_000019.9:g.36576325_36576339dup, NC_000019.9:g.36576324_36576339dup, NC_000019.9:g.36576323_36576339dup, NC_000019.9:g.36576322_36576339dup, NC_000019.9:g.36576321_36576339dup, NC_000019.9:g.36576320_36576339dup, NC_000019.9:g.36576319_36576339dup, NC_000019.9:g.36576318_36576339dup, NC_000019.9:g.36576317_36576339dup, NC_000019.9:g.36576339_36576340insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36576339_36576340insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36576339_36576340insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36576339_36576340insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36576339_36576340insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36576339_36576340insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36576339_36576340insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36576339_36576340insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028101.1:g.35545_35557del, NG_028101.1:g.35546_35557del, NG_028101.1:g.35548_35557del, NG_028101.1:g.35549_35557del, NG_028101.1:g.35550_35557del, NG_028101.1:g.35551_35557del, NG_028101.1:g.35552_35557del, NG_028101.1:g.35553_35557del, NG_028101.1:g.35554_35557del, NG_028101.1:g.35555_35557del, NG_028101.1:g.35556_35557del, NG_028101.1:g.35557del, NG_028101.1:g.35557dup, NG_028101.1:g.35556_35557dup, NG_028101.1:g.35555_35557dup, NG_028101.1:g.35554_35557dup, NG_028101.1:g.35553_35557dup, NG_028101.1:g.35552_35557dup, NG_028101.1:g.35551_35557dup, NG_028101.1:g.35550_35557dup, NG_028101.1:g.35549_35557dup, NG_028101.1:g.35548_35557dup, NG_028101.1:g.35547_35557dup, NG_028101.1:g.35546_35557dup, NG_028101.1:g.35545_35557dup, NG_028101.1:g.35544_35557dup, NG_028101.1:g.35543_35557dup, NG_028101.1:g.35542_35557dup, NG_028101.1:g.35541_35557dup, NG_028101.1:g.35540_35557dup, NG_028101.1:g.35539_35557dup, NG_028101.1:g.35538_35557dup, NG_028101.1:g.35537_35557dup, NG_028101.1:g.35536_35557dup, NG_028101.1:g.35535_35557dup, NG_028101.1:g.35557_35558insTTTTTTTTTTTTTTTTTTTTTTTT, NG_028101.1:g.35557_35558insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028101.1:g.35557_35558insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028101.1:g.35557_35558insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028101.1:g.35557_35558insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028101.1:g.35557_35558insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028101.1:g.35557_35558insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028101.1:g.35557_35558insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911791329.

rs1491179132 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCT,CCTTCCT [Show Flanks]
Chromosome:: 19:36077277 (GRCh38)
19:36568180 (GRCh37)
Canonical SPDI:: NC_000019.10:36077277:T:TCCT,NC_000019.10:36077277:T:TCCTTCCT
Gene:: WDR62 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTTCCT=0./0 (ALFA)
TCC=0.06488/1021 (TOMMO)
HGVS:: NC_000019.10:g.36077278_36077279insCCT, NC_000019.10:g.36077278_36077279insCCTTCCT, NC_000019.9:g.36568180_36568181insCCT, NC_000019.9:g.36568180_36568181insCCTTCCT, NG_028101.1:g.27398_27399insCCT, NG_028101.1:g.27398_27399insCCTTCCT

Select item 149115986510.

rs1491159865 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 19:36069127 (GRCh38)
19:36560029 (GRCh37)
Canonical SPDI:: NC_000019.10:36069125:CTC:C
Gene:: WDR62 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.36069127_36069128del, NC_000019.9:g.36560029_36560030del, NG_028101.1:g.19247_19248del

Select item 149107600011.

rs1491076000 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:36081378 (GRCh38)
19:36572280 (GRCh37)
Canonical SPDI:: NC_000019.10:36081377:TA:
Gene:: WDR62 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.36081378_36081379del, NC_000019.9:g.36572280_36572281del, NG_028101.1:g.31498_31499del

Select item 149103293012.

rs1491032930 has merged into rs550885984 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:36078914 (GRCh38)
19:36569816 (GRCh37)
Canonical SPDI:: NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:36078903:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: WDR62 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
T=0.225/9 (GENOME_DK)
HGVS:: NC_000019.10:g.36078914_36078917del, NC_000019.10:g.36078915_36078917del, NC_000019.10:g.36078916_36078917del, NC_000019.10:g.36078917del, NC_000019.10:g.36078917dup, NC_000019.10:g.36078916_36078917dup, NC_000019.10:g.36078915_36078917dup, NC_000019.10:g.36078914_36078917dup, NC_000019.10:g.36078912_36078917dup, NC_000019.10:g.36078911_36078917dup, NC_000019.10:g.36078917_36078918insTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.36078917_36078918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36569816_36569819del, NC_000019.9:g.36569817_36569819del, NC_000019.9:g.36569818_36569819del, NC_000019.9:g.36569819del, NC_000019.9:g.36569819dup, NC_000019.9:g.36569818_36569819dup, NC_000019.9:g.36569817_36569819dup, NC_000019.9:g.36569816_36569819dup, NC_000019.9:g.36569814_36569819dup, NC_000019.9:g.36569813_36569819dup, NC_000019.9:g.36569819_36569820insTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.36569819_36569820insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028101.1:g.29034_29037del, NG_028101.1:g.29035_29037del, NG_028101.1:g.29036_29037del, NG_028101.1:g.29037del, NG_028101.1:g.29037dup, NG_028101.1:g.29036_29037dup, NG_028101.1:g.29035_29037dup, NG_028101.1:g.29034_29037dup, NG_028101.1:g.29032_29037dup, NG_028101.1:g.29031_29037dup, NG_028101.1:g.29037_29038insTTTTTTTTTTTTTTTTTTTTT, NG_028101.1:g.29037_29038insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149101842913.

rs1491018429 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:36098579 (GRCh38)
19:36589481 (GRCh37)
Canonical SPDI:: NC_000019.10:36098577:AGA:A
Gene:: WDR62 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.36098579_36098580del, NC_000019.9:g.36589481_36589482del, NG_028101.1:g.48699_48700del

Select item 149099977414.

rs1490999774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:36085524 (GRCh38)
19:36576426 (GRCh37)
Canonical SPDI:: NC_000019.10:36085523:G:A
Gene:: WDR62 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.36085524G>A, NC_000019.9:g.36576426G>A, NG_028101.1:g.35644G>A

Select item 149094243215.

rs1490942432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36069082 (GRCh38)
19:36559984 (GRCh37)
Canonical SPDI:: NC_000019.10:36069081:C:T
Gene:: WDR62 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36069082C>T, NC_000019.9:g.36559984C>T, NG_028101.1:g.19202C>T

Select item 149091779216.

rs1490917792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:36059241 (GRCh38)
19:36550143 (GRCh37)
Canonical SPDI:: NC_000019.10:36059240:C:G
Gene:: WDR62 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.36059241C>G, NC_000019.9:g.36550143C>G, NG_028101.1:g.9361C>G

Select item 149068205517.

rs1490682055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:36053443 (GRCh38)
19:36544345 (GRCh37)
Canonical SPDI:: NC_000019.10:36053442:T:C
Gene:: THAP8 (Varview), WDR62 (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_000019.10:g.36053443T>C, NC_000019.9:g.36544345T>C, NG_028101.1:g.3563T>C

Select item 149066086918.

rs1490660869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:36107728 (GRCh38)
19:36598630 (GRCh37)
Canonical SPDI:: NC_000019.10:36107727:T:G
Gene:: WDR62 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.36107728T>G, NC_000019.9:g.36598630T>G

Select item 149061459619.

rs1490614596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36104956 (GRCh38)
19:36595858 (GRCh37)
Canonical SPDI:: NC_000019.10:36104955:C:T
Gene:: WDR62 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36104956C>T, NC_000019.9:g.36595858C>T, NG_028101.1:g.55076C>T, NM_173636.5:c.4485C>T, NM_173636.4:c.4485C>T, NM_001083961.2:c.4500C>T, NM_001083961.1:c.4500C>T, XM_005258809.3:c.4389C>T, XM_005258809.2:c.4389C>T, XM_005258809.1:c.4389C>T, XM_011526840.3:c.3492C>T, XM_011526840.2:c.3492C>T, XM_011526840.1:c.3492C>T, XM_011526841.3:c.3078C>T, XM_011526841.2:c.3078C>T, XM_011526841.1:c.3078C>T, XM_011526844.3:c.2247C>T, XM_011526844.2:c.2247C>T, XM_011526844.1:c.2247C>T, XM_011526837.2:c.4485C>T, XM_017026665.2:c.4500C>T, XM_017026665.1:c.4500C>T, XM_011526838.2:c.4251C>T, XM_011526839.2:c.4149C>T, XM_011526842.2:c.2931C>T, XM_011526842.1:c.2931C>T, XM_011526843.2:c.2247C>T, XM_011526843.1:c.2247C>T, NM_015671.2:c.1821C>T, NM_001411145.1:c.4485C>T, XM_047438657.1:c.4470C>T, XM_047438659.1:c.4374C>T, XM_047438658.1:c.4374C>T, XM_047438660.1:c.4359C>T, NM_001411146.1:c.4251C>T, XM_047438661.1:c.4236C>T, NM_001411147.1:c.4149C>T, XM_047438662.1:c.4134C>T, XM_047438663.1:c.4038C>T, XM_047438664.1:c.4023C>T, XM_047438665.1:c.3900C>T, XM_047438666.1:c.3381C>T, NM_015671.1:c.1821C>T

Select item 149058444320.

rs1490584443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36109613 (GRCh38)
19:36600515 (GRCh37)
Canonical SPDI:: NC_000019.10:36109612:A:G
Gene:: WDR62 (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.36109613A>G, NC_000019.9:g.36600515A>G

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