SNP Links for Nucleotide (Select 262072977) - SNP

Links from Nucleotide

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Select item 14915794421.

rs1491579442 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:16287171 (GRCh38)
6:16287402 (GRCh37)
Canonical SPDI:: NC_000006.12:16287170:AG:
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000023/6 (TOPMED)
-=0.000389/7 (TOMMO)
HGVS:: NC_000006.12:g.16287171_16287172del, NC_000006.11:g.16287402_16287403del, NG_013303.1:g.53592_53593del

Select item 14915690142.

rs1491569014 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:16266146 (GRCh38)
6:16266377 (GRCh37)
Canonical SPDI:: NC_000006.12:16266145:CT:
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000104/12 (GnomAD)
HGVS:: NC_000006.12:g.16266146_16266147del, NC_000006.11:g.16266377_16266378del, NG_013303.1:g.32567_32568del

Select item 14915390293.

rs1491539029 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 6:16266148 (GRCh38)
6:16266379 (GRCh37)
Canonical SPDI:: NC_000006.12:16266146:TGT:T,NC_000006.12:16266146:TGT:TGTGT
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0.000422/5 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000006.12:g.16266148_16266149del, NC_000006.12:g.16266148_16266149dup, NC_000006.11:g.16266379_16266380del, NC_000006.11:g.16266379_16266380dup, NG_013303.1:g.32569_32570del, NG_013303.1:g.32569_32570dup

Select item 14915146944.

rs1491514694 has merged into rs140790026 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG,GGGG [Show Flanks]
Chromosome:: 6:16253617 (GRCh38)
6:16253848 (GRCh37)
Canonical SPDI:: NC_000006.12:16253616:GGGGGGGGG:GGGGGGGG,NC_000006.12:16253616:GGGGGGGGG:GGGGGGGGGG,NC_000006.12:16253616:GGGGGGGGG:GGGGGGGGGGG,NC_000006.12:16253616:GGGGGGGGG:GGGGGGGGGGGG
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0.00116/15 (ALFA)
-=0.05/2 (GENOME_DK)
-=0.07991/350 (Estonian)
G=0.25051/122 (1000Genomes)
HGVS:: NC_000006.12:g.16253625del, NC_000006.12:g.16253625dup, NC_000006.12:g.16253624_16253625dup, NC_000006.12:g.16253623_16253625dup, NC_000006.11:g.16253856del, NC_000006.11:g.16253856dup, NC_000006.11:g.16253855_16253856dup, NC_000006.11:g.16253854_16253856dup, NG_013303.1:g.20046del, NG_013303.1:g.20046dup, NG_013303.1:g.20045_20046dup, NG_013303.1:g.20044_20046dup

Select item 14914587245.

rs1491458724 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:16267216 (GRCh38)
6:16267447 (GRCh37)
Canonical SPDI:: NC_000006.12:16267214:AGA:A
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000079/11 (GnomAD)
HGVS:: NC_000006.12:g.16267216_16267217del, NC_000006.11:g.16267447_16267448del, NG_013303.1:g.33637_33638del

Select item 14914423996.

rs1491442399 has merged into rs58570071 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 6:16293032 (GRCh38)
6:16293263 (GRCh37)
Canonical SPDI:: NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000006.12:16293016:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: GMPR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
-=0.00716/27 (1000Genomes)
TC=0.2/8 (GENOME_DK)
TC=0.23333/140 (NorthernSweden)
HGVS:: NC_000006.12:g.16293018CT[7], NC_000006.12:g.16293018CT[8], NC_000006.12:g.16293018CT[9], NC_000006.12:g.16293018CT[10], NC_000006.12:g.16293018CT[12], NC_000006.12:g.16293018CT[13], NC_000006.12:g.16293018CT[14], NC_000006.12:g.16293018CT[16], NC_000006.12:g.16293018CT[18], NC_000006.11:g.16293249CT[7], NC_000006.11:g.16293249CT[8], NC_000006.11:g.16293249CT[9], NC_000006.11:g.16293249CT[10], NC_000006.11:g.16293249CT[12], NC_000006.11:g.16293249CT[13], NC_000006.11:g.16293249CT[14], NC_000006.11:g.16293249CT[16], NC_000006.11:g.16293249CT[18], NG_013303.1:g.59439CT[7], NG_013303.1:g.59439CT[8], NG_013303.1:g.59439CT[9], NG_013303.1:g.59439CT[10], NG_013303.1:g.59439CT[12], NG_013303.1:g.59439CT[13], NG_013303.1:g.59439CT[14], NG_013303.1:g.59439CT[16], NG_013303.1:g.59439CT[18]

Select item 14914255457.

rs1491425545 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:16242332 (GRCh38)
6:16242563 (GRCh37)
Canonical SPDI:: NC_000006.12:16242331:CT:
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/2 (GnomAD)
HGVS:: NC_000006.12:g.16242332_16242333del, NC_000006.11:g.16242563_16242564del, NG_013303.1:g.8753_8754del

Select item 14914183738.

rs1491418373 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:16285047 (GRCh38)
6:16285278 (GRCh37)
Canonical SPDI:: NC_000006.12:16285045:ACA:A
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00021/4 (TOMMO)
HGVS:: NC_000006.12:g.16285047_16285048del, NC_000006.11:g.16285278_16285279del, NG_013303.1:g.51468_51469del

Select item 14914097769.

rs1491409776 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:16248232 (GRCh38)
6:16248463 (GRCh37)
Canonical SPDI:: NC_000006.12:16248231:CA:
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00986/117 (ALFA)
-=0.00481/130 (TOMMO)
HGVS:: NC_000006.12:g.16248232_16248233del, NC_000006.11:g.16248463_16248464del, NG_013303.1:g.14653_14654del

Select item 149138728210.

rs1491387282 has merged into rs11292107 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:16249178 (GRCh38)
6:16249409 (GRCh37)
Canonical SPDI:: NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16249166:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.16249178_16249189del, NC_000006.12:g.16249182_16249189del, NC_000006.12:g.16249183_16249189del, NC_000006.12:g.16249185_16249189del, NC_000006.12:g.16249186_16249189del, NC_000006.12:g.16249187_16249189del, NC_000006.12:g.16249188_16249189del, NC_000006.12:g.16249189del, NC_000006.12:g.16249189dup, NC_000006.12:g.16249188_16249189dup, NC_000006.12:g.16249187_16249189dup, NC_000006.12:g.16249186_16249189dup, NC_000006.12:g.16249185_16249189dup, NC_000006.12:g.16249184_16249189dup, NC_000006.12:g.16249183_16249189dup, NC_000006.12:g.16249182_16249189dup, NC_000006.12:g.16249189_16249190insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.16249189_16249190insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.16249409_16249420del, NC_000006.11:g.16249413_16249420del, NC_000006.11:g.16249414_16249420del, NC_000006.11:g.16249416_16249420del, NC_000006.11:g.16249417_16249420del, NC_000006.11:g.16249418_16249420del, NC_000006.11:g.16249419_16249420del, NC_000006.11:g.16249420del, NC_000006.11:g.16249420dup, NC_000006.11:g.16249419_16249420dup, NC_000006.11:g.16249418_16249420dup, NC_000006.11:g.16249417_16249420dup, NC_000006.11:g.16249416_16249420dup, NC_000006.11:g.16249415_16249420dup, NC_000006.11:g.16249414_16249420dup, NC_000006.11:g.16249413_16249420dup, NC_000006.11:g.16249420_16249421insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.16249420_16249421insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_013303.1:g.15599_15610del, NG_013303.1:g.15603_15610del, NG_013303.1:g.15604_15610del, NG_013303.1:g.15606_15610del, NG_013303.1:g.15607_15610del, NG_013303.1:g.15608_15610del, NG_013303.1:g.15609_15610del, NG_013303.1:g.15610del, NG_013303.1:g.15610dup, NG_013303.1:g.15609_15610dup, NG_013303.1:g.15608_15610dup, NG_013303.1:g.15607_15610dup, NG_013303.1:g.15606_15610dup, NG_013303.1:g.15605_15610dup, NG_013303.1:g.15604_15610dup, NG_013303.1:g.15603_15610dup, NG_013303.1:g.15610_15611insTTTTTTTTTTTTTTTTTTTTTTTT, NG_013303.1:g.15610_15611insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149137525211.

rs1491375252 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:16296690 (GRCh38)
6:16296921 (GRCh37)
Canonical SPDI:: NC_000006.12:16296689:TA:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000135/17 (GnomAD)
HGVS:: NC_000006.12:g.16296690_16296691del, NC_000006.11:g.16296921_16296922del, NG_013303.1:g.63111_63112del

Select item 149125409512.

rs1491254095 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 6:16287171 (GRCh38)
6:16287403 (GRCh37)
Canonical SPDI:: NC_000006.12:16287171:GGGG:GGGGGG
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
GG=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.16287174_16287175dup, NC_000006.11:g.16287405_16287406dup, NG_013303.1:g.53595_53596dup

Select item 149123857013.

rs1491238570 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:16293040 (GRCh38)
6:16293271 (GRCh37)
Canonical SPDI:: NC_000006.12:16293039:TA:
Gene:: GMPR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000107/15 (GnomAD)
-=0.00014/37 (TOPMED)
-=0.000546/1 (Korea1K)
-=0.001097/18 (TOMMO)
HGVS:: NC_000006.12:g.16293040_16293041del, NC_000006.11:g.16293271_16293272del, NG_013303.1:g.59461_59462del

Select item 149122940814.

rs1491229408 has merged into rs908294858 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 6:16266470 (GRCh38)
6:16266701 (GRCh37)
Canonical SPDI:: NC_000006.12:16266469:CC:C,NC_000006.12:16266469:CC:CCC
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000014/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.16266471del, NC_000006.12:g.16266471dup, NC_000006.11:g.16266702del, NC_000006.11:g.16266702dup, NG_013303.1:g.32892del, NG_013303.1:g.32892dup

Select item 149121840015.

rs1491218400 has merged into rs60759536 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:16297202 (GRCh38)
6:16297433 (GRCh37)
Canonical SPDI:: NC_000006.12:16297189:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:16297189:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:16297189:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:16297189:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:16297189:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:16297189:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:16297189:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:16297189:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:16297189:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16297189:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:16297189:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.32208/1613 (1000Genomes)
HGVS:: NC_000006.12:g.16297202_16297207del, NC_000006.12:g.16297203_16297207del, NC_000006.12:g.16297204_16297207del, NC_000006.12:g.16297205_16297207del, NC_000006.12:g.16297206_16297207del, NC_000006.12:g.16297207del, NC_000006.12:g.16297207dup, NC_000006.12:g.16297206_16297207dup, NC_000006.12:g.16297205_16297207dup, NC_000006.12:g.16297204_16297207dup, NC_000006.12:g.16297200_16297207dup, NC_000006.11:g.16297433_16297438del, NC_000006.11:g.16297434_16297438del, NC_000006.11:g.16297435_16297438del, NC_000006.11:g.16297436_16297438del, NC_000006.11:g.16297437_16297438del, NC_000006.11:g.16297438del, NC_000006.11:g.16297438dup, NC_000006.11:g.16297437_16297438dup, NC_000006.11:g.16297436_16297438dup, NC_000006.11:g.16297435_16297438dup, NC_000006.11:g.16297431_16297438dup, NG_011571.1:g.469296_469301del, NG_011571.1:g.469297_469301del, NG_011571.1:g.469298_469301del, NG_011571.1:g.469299_469301del, NG_011571.1:g.469300_469301del, NG_011571.1:g.469301del, NG_011571.1:g.469301dup, NG_011571.1:g.469300_469301dup, NG_011571.1:g.469299_469301dup, NG_011571.1:g.469298_469301dup, NG_011571.1:g.469294_469301dup, NG_013303.1:g.63623_63628del, NG_013303.1:g.63624_63628del, NG_013303.1:g.63625_63628del, NG_013303.1:g.63626_63628del, NG_013303.1:g.63627_63628del, NG_013303.1:g.63628del, NG_013303.1:g.63628dup, NG_013303.1:g.63627_63628dup, NG_013303.1:g.63626_63628dup, NG_013303.1:g.63625_63628dup, NG_013303.1:g.63621_63628dup

Select item 149121470616.

rs1491214706 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:16266469 (GRCh38)
6:16266700 (GRCh37)
Canonical SPDI:: NC_000006.12:16266468:TC:
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00219/4 (Korea1K)
-=0.00246/223 (GnomAD)
-=0.00268/45 (TOMMO)
HGVS:: NC_000006.12:g.16266469_16266470del, NC_000006.11:g.16266700_16266701del, NG_013303.1:g.32890_32891del

Select item 149120981317.

rs1491209813 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:16256528 (GRCh38)
6:16256759 (GRCh37)
Canonical SPDI:: NC_000006.12:16256527:CA:
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.16256528_16256529del, NC_000006.11:g.16256759_16256760del, NG_013303.1:g.22949_22950del

Select item 149120222418.

rs1491202224 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTA,TTTA,TTTTA,TTTTTA,TTTTTTTA,TTTTTTTTTTTA [Show Flanks]
Chromosome:: 6:16296690 (GRCh38)
6:16296922 (GRCh37)
Canonical SPDI:: NC_000006.12:16296690::TA,NC_000006.12:16296690::TTA,NC_000006.12:16296690::TTTA,NC_000006.12:16296690::TTTTA,NC_000006.12:16296690::TTTTTA,NC_000006.12:16296690::TTTTTTTA,NC_000006.12:16296690::TTTTTTTTTTTA
Validated:: by frequency,by alfa,by cluster
MAF:: TTA=0./0 (ALFA)
TA=0.00132/22 (TOMMO)
HGVS:: NC_000006.12:g.16296690_16296691insTA, NC_000006.12:g.16296690_16296691insTTA, NC_000006.12:g.16296690_16296691insTTTA, NC_000006.12:g.16296690_16296691insTTTTA, NC_000006.12:g.16296690_16296691insTTTTTA, NC_000006.12:g.16296690_16296691insTTTTTTTA, NC_000006.12:g.16296690_16296691insTTTTTTTTTTTA, NC_000006.11:g.16296921_16296922insTA, NC_000006.11:g.16296921_16296922insTTA, NC_000006.11:g.16296921_16296922insTTTA, NC_000006.11:g.16296921_16296922insTTTTA, NC_000006.11:g.16296921_16296922insTTTTTA, NC_000006.11:g.16296921_16296922insTTTTTTTA, NC_000006.11:g.16296921_16296922insTTTTTTTTTTTA, NG_013303.1:g.63111_63112insTA, NG_013303.1:g.63111_63112insTTA, NG_013303.1:g.63111_63112insTTTA, NG_013303.1:g.63111_63112insTTTTA, NG_013303.1:g.63111_63112insTTTTTA, NG_013303.1:g.63111_63112insTTTTTTTA, NG_013303.1:g.63111_63112insTTTTTTTTTTTA

Select item 149116096319.

rs1491160963 has merged into rs1006257648 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:16256538 (GRCh38)
6:16256769 (GRCh37)
Canonical SPDI:: NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:16256528:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.16256538_16256551del, NC_000006.12:g.16256540_16256551del, NC_000006.12:g.16256541_16256551del, NC_000006.12:g.16256542_16256551del, NC_000006.12:g.16256543_16256551del, NC_000006.12:g.16256545_16256551del, NC_000006.12:g.16256546_16256551del, NC_000006.12:g.16256549_16256551del, NC_000006.12:g.16256550_16256551del, NC_000006.12:g.16256551del, NC_000006.12:g.16256551dup, NC_000006.12:g.16256550_16256551dup, NC_000006.12:g.16256549_16256551dup, NC_000006.12:g.16256548_16256551dup, NC_000006.12:g.16256547_16256551dup, NC_000006.12:g.16256546_16256551dup, NC_000006.11:g.16256769_16256782del, NC_000006.11:g.16256771_16256782del, NC_000006.11:g.16256772_16256782del, NC_000006.11:g.16256773_16256782del, NC_000006.11:g.16256774_16256782del, NC_000006.11:g.16256776_16256782del, NC_000006.11:g.16256777_16256782del, NC_000006.11:g.16256780_16256782del, NC_000006.11:g.16256781_16256782del, NC_000006.11:g.16256782del, NC_000006.11:g.16256782dup, NC_000006.11:g.16256781_16256782dup, NC_000006.11:g.16256780_16256782dup, NC_000006.11:g.16256779_16256782dup, NC_000006.11:g.16256778_16256782dup, NC_000006.11:g.16256777_16256782dup, NG_013303.1:g.22959_22972del, NG_013303.1:g.22961_22972del, NG_013303.1:g.22962_22972del, NG_013303.1:g.22963_22972del, NG_013303.1:g.22964_22972del, NG_013303.1:g.22966_22972del, NG_013303.1:g.22967_22972del, NG_013303.1:g.22970_22972del, NG_013303.1:g.22971_22972del, NG_013303.1:g.22972del, NG_013303.1:g.22972dup, NG_013303.1:g.22971_22972dup, NG_013303.1:g.22970_22972dup, NG_013303.1:g.22969_22972dup, NG_013303.1:g.22968_22972dup, NG_013303.1:g.22967_22972dup

Select item 149114442220.

rs1491144422 has merged into rs36064390 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 6:16242345 (GRCh38)
6:16242576 (GRCh37)
Canonical SPDI:: NC_000006.12:16242332:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:16242332:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:16242332:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:16242332:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:16242332:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:16242332:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:16242332:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: GMPR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3596/1801 (1000Genomes)
-=0.375/225 (NorthernSweden)
T=0.5/19 (GENOME_DK)
HGVS:: NC_000006.12:g.16242345_16242349del, NC_000006.12:g.16242346_16242349del, NC_000006.12:g.16242347_16242349del, NC_000006.12:g.16242348_16242349del, NC_000006.12:g.16242349del, NC_000006.12:g.16242349dup, NC_000006.12:g.16242348_16242349dup, NC_000006.11:g.16242576_16242580del, NC_000006.11:g.16242577_16242580del, NC_000006.11:g.16242578_16242580del, NC_000006.11:g.16242579_16242580del, NC_000006.11:g.16242580del, NC_000006.11:g.16242580dup, NC_000006.11:g.16242579_16242580dup, NG_013303.1:g.8766_8770del, NG_013303.1:g.8767_8770del, NG_013303.1:g.8768_8770del, NG_013303.1:g.8769_8770del, NG_013303.1:g.8770del, NG_013303.1:g.8770dup, NG_013303.1:g.8769_8770dup

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