SNP Links for Gene (Select 6011) - SNP

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Select item 14915882301.

rs1491588230 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:113734014 (GRCh38)
13:114436987 (GRCh37)
Canonical SPDI:: NC_000013.11:113734013:AT:
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00007/7 (GnomAD)
HGVS:: NC_000013.11:g.113734014_113734015del, NW_021160011.1:g.35613_35614del, NC_000013.10:g.114436987_114436988del, NT_187596.1:g.7131_7132del

Select item 14915607352.

rs1491560735 has merged into rs1195094143 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 13:113733895 (GRCh38)
13:114436868 (GRCh37)
Canonical SPDI:: NC_000013.11:113733890:GTGTGTGT:GTGT,NC_000013.11:113733890:GTGTGTGT:GTGTGT,NC_000013.11:113733890:GTGTGTGT:GTGTGTGTGT,NC_000013.11:113733890:GTGTGTGT:GTGTGTGTGTGTGT,NC_000013.11:113733890:GTGTGTGT:GTGTGTGTGTGTGTGT
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGT=0./0 (ALFA)
HGVS:: NC_000013.11:g.113733891GT[2], NC_000013.11:g.113733891GT[3], NC_000013.11:g.113733891GT[5], NC_000013.11:g.113733891GT[7], NC_000013.11:g.113733891GT[8], NW_021160011.1:g.35490GT[2], NW_021160011.1:g.35490GT[3], NW_021160011.1:g.35490GT[5], NW_021160011.1:g.35490GT[7], NW_021160011.1:g.35490GT[8], NC_000013.10:g.114436864GT[2], NC_000013.10:g.114436864GT[3], NC_000013.10:g.114436864GT[5], NC_000013.10:g.114436864GT[7], NC_000013.10:g.114436864GT[8]

Select item 14915528013.

rs1491552801 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 13:113733539 (GRCh38)
13:114436513 (GRCh37)
Canonical SPDI:: NC_000013.11:113733539::CG
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CG=0./0 (ALFA)
HGVS:: NC_000013.11:g.113733539_113733540insCG, NW_021160011.1:g.35138_35139insCG, NC_000013.10:g.114436512_114436513insCG, NT_187596.1:g.6662_6663insCG

Select item 14915476494.

rs1491547649 has merged into rs1226487493 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGTGTGTG>-,CGTGTGTGCGTGTGTG [Show Flanks]
Chromosome:: 13:113733890 (GRCh38)
13:114436863 (GRCh37)
Canonical SPDI:: NC_000013.11:113733881:CGTGTGTGCGTGTGTG:CGTGTGTG,NC_000013.11:113733881:CGTGTGTGCGTGTGTG:CGTGTGTGCGTGTGTGCGTGTGTG
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGTGTGTGCGTGTGTGCGTGTGTG=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.035/21 (NorthernSweden)
HGVS:: NC_000013.11:g.113733882CGTGTGTG[1], NC_000013.11:g.113733882CGTGTGTG[3], NW_021160011.1:g.35481CGTGTGTG[1], NW_021160011.1:g.35481CGTGTGTG[3], NC_000013.10:g.114436855CGTGTGTG[1], NC_000013.10:g.114436855CGTGTGTG[3]

Select item 14915402775.

rs1491540277 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTGC [Show Flanks]
Chromosome:: 13:113723845 (GRCh38)
13:114426819 (GRCh37)
Canonical SPDI:: NC_000013.11:113723845::GTGC
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGC=0./0 (ALFA)
GTGC=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.113723845_113723846insGTGC, NW_021160011.1:g.25444_25445insGTGC, NC_000013.10:g.114426818_114426819insGTGC

Select item 14915292576.

rs1491529257 has merged into rs1421406247 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGTGTG>-,CGCGTGTGCGCGTGTG [Show Flanks]
Chromosome:: 13:113733528 (GRCh38)
13:114436501 (GRCh37)
Canonical SPDI:: NC_000013.11:113733522:GTGTGCGCGTGTG:GTGTG,NC_000013.11:113733522:GTGTGCGCGTGTG:GTGTGCGCGTGTGCGCGTGTG
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGCGCGTGTGCGCGTGTG=0./0 (ALFA)
GTGTGCGC=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.113733528_113733535del, NC_000013.11:g.113733528_113733535dup, NW_021160011.1:g.35127_35134del, NW_021160011.1:g.35127_35134dup, NC_000013.10:g.114436501_114436508del, NC_000013.10:g.114436501_114436508dup, NT_187596.1:g.6651_6658del, NT_187596.1:g.6651_6658dup

Select item 14915202637.

rs1491520263 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:113723846 (GRCh38)
13:114426819 (GRCh37)
Canonical SPDI:: NC_000013.11:113723844:TCT:T
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.113723846_113723847del, NW_021160011.1:g.25445_25446del, NC_000013.10:g.114426819_114426820del

Select item 14915167648.

rs1491516764 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:113734034 (GRCh38)
13:114437007 (GRCh37)
Canonical SPDI:: NC_000013.11:113734033:GT:
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.113734034_113734035del, NW_021160011.1:g.35633_35634del, NC_000013.10:g.114437007_114437008del, NT_187596.1:g.7145_7146del

Select item 14914763379.

rs1491476337 has merged into rs533473901 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 13:113733791 (GRCh38)
13:114436764 (GRCh37)
Canonical SPDI:: NC_000013.11:113733787:TGTGTGT:TGT,NC_000013.11:113733787:TGTGTGT:TGTGT,NC_000013.11:113733787:TGTGTGT:TGTGTGTGT
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
-=0.00109/2 (Korea1K)
-=0.02057/103 (1000Genomes)
HGVS:: NC_000013.11:g.113733789GT[1], NC_000013.11:g.113733789GT[2], NC_000013.11:g.113733789GT[4], NW_021160011.1:g.35388GT[1], NW_021160011.1:g.35388GT[2], NW_021160011.1:g.35388GT[4], NC_000013.10:g.114436762GT[1], NC_000013.10:g.114436762GT[2], NC_000013.10:g.114436762GT[4], NT_187596.1:g.6906GT[1], NT_187596.1:g.6906GT[2], NT_187596.1:g.6906GT[4]

Select item 149144949010.

rs1491449490 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>-,CGCG [Show Flanks]
Chromosome:: 13:113733870 (GRCh38)
13:114436843 (GRCh37)
Canonical SPDI:: NC_000013.11:113733868:GCG:G,NC_000013.11:113733868:GCG:GCGCG
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCG=0./0 (ALFA)
-=0.000471/59 (GnomAD)
HGVS:: NC_000013.11:g.113733870_113733871del, NC_000013.11:g.113733870_113733871dup, NW_021160011.1:g.35469_35470del, NW_021160011.1:g.35469_35470dup, NC_000013.10:g.114436843_114436844del, NC_000013.10:g.114436843_114436844dup, NT_187596.1:g.6977_6978del, NT_187596.1:g.6977_6978dup

Select item 149142308611.

rs1491423086 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>-,CGCG [Show Flanks]
Chromosome:: 13:113733969 (GRCh38)
13:114436942 (GRCh37)
Canonical SPDI:: NC_000013.11:113733967:GCG:G,NC_000013.11:113733967:GCG:GCGCG
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCG=0./0 (ALFA)
-=0.045/27 (NorthernSweden)
-=0.052999/6750 (GnomAD)
HGVS:: NC_000013.11:g.113733969_113733970del, NC_000013.11:g.113733969_113733970dup, NW_021160011.1:g.35568_35569del, NW_021160011.1:g.35568_35569dup, NC_000013.10:g.114436942_114436943del, NC_000013.10:g.114436942_114436943dup, NT_187596.1:g.7088_7089del, NT_187596.1:g.7088_7089dup

Select item 149139471712.

rs1491394717 [Homo sapiens]

Variant type:: INS
Alleles:: ->GC,GCATGTGTGCGCGTGTGTGCATGCGTGTGCGCGCACGTGTGTCCATGTATGTGTATGTGTGTGCATACGTGTGTGTGCACGTGTGCGC,GCATGTGTGTGC,GCGC,GTGTGCATACGTGTGTGCATGTGTGTGC,GTGTGCATACGTGTGTGCATGTGTGTGCATGTGTGTGC [Show Flanks]
Chromosome:: 13:113733794 (GRCh38)
13:114436768 (GRCh37)
Canonical SPDI:: NC_000013.11:113733794::GC,NC_000013.11:113733794::GCATGTGTGCGCGTGTGTGCATGCGTGTGCGCGCACGTGTGTCCATGTATGTGTATGTGTGTGCATACGTGTGTGTGCACGTGTGCGC,NC_000013.11:113733794::GCATGTGTGTGC,NC_000013.11:113733794::GCGC,NC_000013.11:113733794::GTGTGCATACGTGTGTGCATGTGTGTGC,NC_000013.11:113733794::GTGTGCATACGTGTGTGCATGTGTGTGCATGTGTGTGC
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCATGTGTGTGC=0./0 (ALFA)
GC=0.00055/1 (Korea1K)
GC=0.0017/28 (TOMMO)
GC=0.00171/1 (NorthernSweden)
HGVS:: NC_000013.11:g.113733794_113733795insGC, NC_000013.11:g.113733794_113733795insGCATGTGTGCGCGTGTGTGCATGCGTGTGCGCGCACGTGTGTCCATGTATGTGTATGTGTGTGCATACGTGTGTGTGCACGTGTGCGC, NC_000013.11:g.113733794_113733795insGCATGTGTGTGC, NC_000013.11:g.113733794_113733795insGCGC, NC_000013.11:g.113733794_113733795insGTGTGCATACGTGTGTGCATGTGTGTGC, NC_000013.11:g.113733794_113733795insGTGTGCATACGTGTGTGCATGTGTGTGCATGTGTGTGC, NW_021160011.1:g.35393_35394insGC, NW_021160011.1:g.35393_35394insGCATGTGTGCGCGTGTGTGCATGCGTGTGCGCGCACGTGTGTCCATGTATGTGTATGTGTGTGCATACGTGTGTGTGCACGTGTGCGC, NW_021160011.1:g.35393_35394insGCATGTGTGTGC, NW_021160011.1:g.35393_35394insGCGC, NW_021160011.1:g.35393_35394insGTGTGCATACGTGTGTGCATGTGTGTGC, NW_021160011.1:g.35393_35394insGTGTGCATACGTGTGTGCATGTGTGTGCATGTGTGTGC, NC_000013.10:g.114436767_114436768insGC, NC_000013.10:g.114436767_114436768insGCATGTGTGCGCGTGTGTGCATGCGTGTGCGCGCACGTGTGTCCATGTATGTGTATGTGTGTGCATACGTGTGTGTGCACGTGTGCGC, NC_000013.10:g.114436767_114436768insGCATGTGTGTGC, NC_000013.10:g.114436767_114436768insGCGC, NC_000013.10:g.114436767_114436768insGTGTGCATACGTGTGTGCATGTGTGTGC, NC_000013.10:g.114436767_114436768insGTGTGCATACGTGTGTGCATGTGTGTGCATGTGTGTGC, NT_187596.1:g.6911_6912insGC, NT_187596.1:g.6911_6912insGCATGTGTGCGCGTGTGTGCATGCGTGTGCGCGCACGTGTGTCCATGTATGTGTATGTGTGTGCATACGTGTGTGTGCACGTGTGCGC, NT_187596.1:g.6911_6912insGCATGTGTGTGC, NT_187596.1:g.6911_6912insGCGC, NT_187596.1:g.6911_6912insGTGTGCATACGTGTGTGCATGTGTGTGC, NT_187596.1:g.6911_6912insGTGTGCATACGTGTGTGCATGTGTGTGCATGTGTGTGC

Select item 149136224113.

rs1491362241 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATACG,CGTGTGTGCATACG [Show Flanks]
Chromosome:: 13:113733944 (GRCh38)
13:114436918 (GRCh37)
Canonical SPDI:: NC_000013.11:113733944:CG:CGCATACG,NC_000013.11:113733944:CG:CGCGTGTGTGCATACG
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGCGTGTGTGCATACG=0.000506/6 (ALFA)
CGCATA=0.000009/1 (GnomAD)
HGVS:: NC_000013.11:g.113733946_113733947insCATACG, NC_000013.11:g.113733945_113733946CG[2]TG[3]CATACG[1], NW_021160011.1:g.35545_35546insCATACG, NW_021160011.1:g.35544_35545CG[2]TG[3]CATACG[1], NC_000013.10:g.114436919_114436920insCATACG, NC_000013.10:g.114436918_114436919CG[2]TG[3]CATACG[1], NT_187596.1:g.7065_7066insCATACG, NT_187596.1:g.7064_7065CG[2]TG[3]CATACG[1]

Select item 149133755514.

rs1491337555 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 13:113734022 (GRCh38)
13:114436996 (GRCh37)
Canonical SPDI:: NC_000013.11:113734022::TT
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TT=0.00001/1 (GnomAD)
HGVS:: NC_000013.11:g.113734022_113734023insTT, NW_021160011.1:g.35621_35622insTT, NC_000013.10:g.114436995_114436996insTT, NT_187596.1:g.7139_7140insTT

Select item 149129943115.

rs1491299431 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA,TGTATGTATGCATA [Show Flanks]
Chromosome:: 13:113733670 (GRCh38)
13:114436644 (GRCh37)
Canonical SPDI:: NC_000013.11:113733670:A:ATA,NC_000013.11:113733670:A:ATGTATGTATGCATA
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000013.11:g.113733671_113733672insTA, NC_000013.11:g.113733671ATGT[2]ATGCATA[1], NW_021160011.1:g.35270_35271insTA, NW_021160011.1:g.35270ATGT[2]ATGCATA[1], NC_000013.10:g.114436644_114436645insTA, NC_000013.10:g.114436644ATGT[2]ATGCATA[1]

Select item 149129142816.

rs1491291428 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 13:113733661 (GRCh38)
13:114436635 (GRCh37)
Canonical SPDI:: NC_000013.11:113733661:C:CAC
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
CA=0.00001/1 (GnomAD)
CA=0.00004/1 (TOMMO)
HGVS:: NC_000013.11:g.113733662_113733663insAC, NW_021160011.1:g.35261_35262insAC, NC_000013.10:g.114436635_114436636insAC, NT_187596.1:g.6786_6787dup

Select item 149127458617.

rs1491274586 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:113733787 (GRCh38)
13:114436760 (GRCh37)
Canonical SPDI:: NC_000013.11:113733786:AT:
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000013.11:g.113733787_113733788del, NW_021160011.1:g.35386_35387del, NC_000013.10:g.114436760_114436761del, NT_187596.1:g.6904_6905del

Select item 149125581918.

rs1491255819 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 13:113733891 (GRCh38)
13:114436865 (GRCh37)
Canonical SPDI:: NC_000013.11:113733891::CA
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.00042/5 (ALFA)
CA=0.00698/547 (GnomAD)
HGVS:: NC_000013.11:g.113733891_113733892insCA, NW_021160011.1:g.35490_35491insCA, NC_000013.10:g.114436864_114436865insCA, NT_187596.1:g.6998_6999insCA

Select item 149123608719.

rs1491236087 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 13:113733981 (GRCh38)
13:114436955 (GRCh37)
Canonical SPDI:: NC_000013.11:113733981::AC
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
AC=0.045/27 (NorthernSweden)
AC=0.054136/6814 (GnomAD)
HGVS:: NC_000013.11:g.113733981_113733982insAC, NW_021160011.1:g.35580_35581insAC, NC_000013.10:g.114436954_114436955insAC, NT_187596.1:g.7100_7101insAC

Select item 149123596920.

rs1491235969 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAC [Show Flanks]
Chromosome:: 13:113733869 (GRCh38)
13:114436843 (GRCh37)
Canonical SPDI:: NC_000013.11:113733869:C:CATAC
Gene:: GRK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CATAC=0./0 (ALFA)
CATA=0.000033/4 (GnomAD)
HGVS:: NC_000013.11:g.113733870_113733871insATAC, NW_021160011.1:g.35469_35470insATAC, NC_000013.10:g.114436843_114436844insATAC, NT_187596.1:g.6977_6978insATAC

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