SNP Links for Gene (Select 23352) - SNP

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Select item 14915779601.

rs1491577960 has merged into rs35082539 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 1:19159618 (GRCh38)
1:19486112 (GRCh37)
Canonical SPDI:: NC_000001.11:19159603:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:19159603:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:19159603:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:19159603:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:19159603:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:19159603:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.19159618_19159620del, NC_000001.11:g.19159619_19159620del, NC_000001.11:g.19159620del, NC_000001.11:g.19159620dup, NC_000001.11:g.19159619_19159620dup, NC_000001.11:g.19159618_19159620dup, NC_000001.10:g.19486112_19486114del, NC_000001.10:g.19486113_19486114del, NC_000001.10:g.19486114del, NC_000001.10:g.19486114dup, NC_000001.10:g.19486113_19486114dup, NC_000001.10:g.19486112_19486114dup, NG_027669.1:g.55647_55649del, NG_027669.1:g.55648_55649del, NG_027669.1:g.55649del, NG_027669.1:g.55649dup, NG_027669.1:g.55648_55649dup, NG_027669.1:g.55647_55649dup

Select item 14915640612.

rs1491564061 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAA [Show Flanks]
Chromosome:: 1:19143258 (GRCh38)
1:19469753 (GRCh37)
Canonical SPDI:: NC_000001.11:19143258::AAA
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: AAA=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.19143258_19143259insAAA, NC_000001.10:g.19469752_19469753insAAA, NG_027669.1:g.71994_71995insTTT

Select item 14914685173.

rs1491468517 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:19131243 (GRCh38)
1:19457737 (GRCh37)
Canonical SPDI:: NC_000001.11:19131242:TA:
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00015/9 (GnomAD)
-=0.00265/17 (1000Genomes)
HGVS:: NC_000001.11:g.19131243_19131244del, NC_000001.10:g.19457737_19457738del, NG_027669.1:g.84009_84010del

Select item 14914482724.

rs1491448272 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA,TATACA,TATATACA [Show Flanks]
Chromosome:: 1:19187095 (GRCh38)
1:19513590 (GRCh37)
Canonical SPDI:: NC_000001.11:19187095:A:ATACA,NC_000001.11:19187095:A:ATATACA,NC_000001.11:19187095:A:ATATATACA
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATACA=0./0 (ALFA)
HGVS:: NC_000001.11:g.19187096_19187097insTACA, NC_000001.11:g.19187096AT[2]ACA[1], NC_000001.11:g.19187096AT[3]ACA[1], NC_000001.10:g.19513590_19513591insTACA, NC_000001.10:g.19513590AT[2]ACA[1], NC_000001.10:g.19513590AT[3]ACA[1], NG_027669.1:g.28157_28158insGTAT, NG_027669.1:g.28157_28158insGTATAT, NG_027669.1:g.28157_28158insGTATATAT

Select item 14914418015.

rs1491441801 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA [Show Flanks]
Chromosome:: 1:19195967 (GRCh38)
1:19522462 (GRCh37)
Canonical SPDI:: NC_000001.11:19195967:A:ACA,NC_000001.11:19195967:A:ACACA
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
ACAC=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.19195968_19195969insCA, NC_000001.11:g.19195968_19195969insCACA, NC_000001.10:g.19522462_19522463insCA, NC_000001.10:g.19522462_19522463insCACA, NG_027669.1:g.19285_19286insGT, NG_027669.1:g.19285_19286insGTGT

Select item 14914328616.

rs1491432861 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 1:19187077 (GRCh38)
1:19513572 (GRCh37)
Canonical SPDI:: NC_000001.11:19187077:A:ACA
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.19187078_19187079insCA, NC_000001.10:g.19513572_19513573insCA, NG_027669.1:g.28175_28176insGT

Select item 14914242147.

rs1491424214 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:19159604 (GRCh38)
1:19486099 (GRCh37)
Canonical SPDI:: NC_000001.11:19159604::A
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.19159604_19159605insA, NC_000001.10:g.19486098_19486099insA, NG_027669.1:g.55648_55649insT

Select item 14914070678.

rs1491407067 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:19190293 (GRCh38)
1:19516788 (GRCh37)
Canonical SPDI:: NC_000001.11:19190293::G
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.19190293_19190294insG, NC_000001.10:g.19516787_19516788insG, NG_027669.1:g.24959_24960insC

Select item 14913913009.

rs1491391300 has merged into rs1184892281 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:19190304 (GRCh38)
1:19516798 (GRCh37)
Canonical SPDI:: NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19190292:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.19190304_19190313del, NC_000001.11:g.19190309_19190313del, NC_000001.11:g.19190310_19190313del, NC_000001.11:g.19190311_19190313del, NC_000001.11:g.19190312_19190313del, NC_000001.11:g.19190313del, NC_000001.11:g.19190313dup, NC_000001.11:g.19190312_19190313dup, NC_000001.11:g.19190311_19190313dup, NC_000001.11:g.19190310_19190313dup, NC_000001.11:g.19190309_19190313dup, NC_000001.11:g.19190308_19190313dup, NC_000001.11:g.19190307_19190313dup, NC_000001.11:g.19190306_19190313dup, NC_000001.11:g.19190305_19190313dup, NC_000001.11:g.19190304_19190313dup, NC_000001.11:g.19190303_19190313dup, NC_000001.11:g.19190301_19190313dup, NC_000001.10:g.19516798_19516807del, NC_000001.10:g.19516803_19516807del, NC_000001.10:g.19516804_19516807del, NC_000001.10:g.19516805_19516807del, NC_000001.10:g.19516806_19516807del, NC_000001.10:g.19516807del, NC_000001.10:g.19516807dup, NC_000001.10:g.19516806_19516807dup, NC_000001.10:g.19516805_19516807dup, NC_000001.10:g.19516804_19516807dup, NC_000001.10:g.19516803_19516807dup, NC_000001.10:g.19516802_19516807dup, NC_000001.10:g.19516801_19516807dup, NC_000001.10:g.19516800_19516807dup, NC_000001.10:g.19516799_19516807dup, NC_000001.10:g.19516798_19516807dup, NC_000001.10:g.19516797_19516807dup, NC_000001.10:g.19516795_19516807dup, NG_027669.1:g.24951_24960del, NG_027669.1:g.24956_24960del, NG_027669.1:g.24957_24960del, NG_027669.1:g.24958_24960del, NG_027669.1:g.24959_24960del, NG_027669.1:g.24960del, NG_027669.1:g.24960dup, NG_027669.1:g.24959_24960dup, NG_027669.1:g.24958_24960dup, NG_027669.1:g.24957_24960dup, NG_027669.1:g.24956_24960dup, NG_027669.1:g.24955_24960dup, NG_027669.1:g.24954_24960dup, NG_027669.1:g.24953_24960dup, NG_027669.1:g.24952_24960dup, NG_027669.1:g.24951_24960dup, NG_027669.1:g.24950_24960dup, NG_027669.1:g.24948_24960dup

Select item 149133736810.

rs1491337368 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:19143258 (GRCh38)
1:19469752 (GRCh37)
Canonical SPDI:: NC_000001.11:19143257:GG:
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.19143258_19143259del, NC_000001.10:g.19469752_19469753del, NG_027669.1:g.71994_71995del

Select item 149128942311.

rs1491289423 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 1:19195969 (GRCh38)
1:19522463 (GRCh37)
Canonical SPDI:: NC_000001.11:19195966:TATA:TA,NC_000001.11:19195966:TATA:TATATA
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATA=0.00007/1 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.19195967TA[1], NC_000001.11:g.19195967TA[3], NC_000001.10:g.19522461TA[1], NC_000001.10:g.19522461TA[3], NG_027669.1:g.19283TA[1], NG_027669.1:g.19283TA[3]

Select item 149127930612.

rs1491279306 has merged into rs869155620 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:19131254 (GRCh38)
1:19457748 (GRCh37)
Canonical SPDI:: NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19131243:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.19131254_19131269del, NC_000001.11:g.19131255_19131269del, NC_000001.11:g.19131256_19131269del, NC_000001.11:g.19131257_19131269del, NC_000001.11:g.19131259_19131269del, NC_000001.11:g.19131260_19131269del, NC_000001.11:g.19131261_19131269del, NC_000001.11:g.19131262_19131269del, NC_000001.11:g.19131263_19131269del, NC_000001.11:g.19131264_19131269del, NC_000001.11:g.19131265_19131269del, NC_000001.11:g.19131267_19131269del, NC_000001.11:g.19131268_19131269del, NC_000001.11:g.19131269del, NC_000001.11:g.19131269dup, NC_000001.11:g.19131268_19131269dup, NC_000001.11:g.19131267_19131269dup, NC_000001.11:g.19131263_19131269dup, NC_000001.11:g.19131262_19131269dup, NC_000001.11:g.19131254_19131269dup, NC_000001.11:g.19131252_19131269dup, NC_000001.11:g.19131269_19131270insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.19457748_19457763del, NC_000001.10:g.19457749_19457763del, NC_000001.10:g.19457750_19457763del, NC_000001.10:g.19457751_19457763del, NC_000001.10:g.19457753_19457763del, NC_000001.10:g.19457754_19457763del, NC_000001.10:g.19457755_19457763del, NC_000001.10:g.19457756_19457763del, NC_000001.10:g.19457757_19457763del, NC_000001.10:g.19457758_19457763del, NC_000001.10:g.19457759_19457763del, NC_000001.10:g.19457761_19457763del, NC_000001.10:g.19457762_19457763del, NC_000001.10:g.19457763del, NC_000001.10:g.19457763dup, NC_000001.10:g.19457762_19457763dup, NC_000001.10:g.19457761_19457763dup, NC_000001.10:g.19457757_19457763dup, NC_000001.10:g.19457756_19457763dup, NC_000001.10:g.19457748_19457763dup, NC_000001.10:g.19457746_19457763dup, NC_000001.10:g.19457763_19457764insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027669.1:g.83994_84009del, NG_027669.1:g.83995_84009del, NG_027669.1:g.83996_84009del, NG_027669.1:g.83997_84009del, NG_027669.1:g.83999_84009del, NG_027669.1:g.84000_84009del, NG_027669.1:g.84001_84009del, NG_027669.1:g.84002_84009del, NG_027669.1:g.84003_84009del, NG_027669.1:g.84004_84009del, NG_027669.1:g.84005_84009del, NG_027669.1:g.84007_84009del, NG_027669.1:g.84008_84009del, NG_027669.1:g.84009del, NG_027669.1:g.84009dup, NG_027669.1:g.84008_84009dup, NG_027669.1:g.84007_84009dup, NG_027669.1:g.84003_84009dup, NG_027669.1:g.84002_84009dup, NG_027669.1:g.83994_84009dup, NG_027669.1:g.83992_84009dup, NG_027669.1:g.84009_84010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149127075213.

rs1491270752 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:19187074 (GRCh38)
1:19513569 (GRCh37)
Canonical SPDI:: NC_000001.11:19187074:T:TAT
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.19187075_19187076insAT, NC_000001.10:g.19513569_19513570insAT, NG_027669.1:g.28178_28179insTA

Select item 149124845414.

rs1491248454 has merged into rs142907721 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 1:19204533 (GRCh38)
1:19531027 (GRCh37)
Canonical SPDI:: NC_000001.11:19204527:AAAAAAAAA:AAAAA,NC_000001.11:19204527:AAAAAAAAA:AAAAAA,NC_000001.11:19204527:AAAAAAAAA:AAAAAAA,NC_000001.11:19204527:AAAAAAAAA:AAAAAAAA,NC_000001.11:19204527:AAAAAAAAA:AAAAAAAAAA,NC_000001.11:19204527:AAAAAAAAA:AAAAAAAAAAA,NC_000001.11:19204527:AAAAAAAAA:AAAAAAAAAAAA
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.14333/86 (NorthernSweden)
A=0.21053/8 (GENOME_DK)
HGVS:: NC_000001.11:g.19204533_19204536del, NC_000001.11:g.19204534_19204536del, NC_000001.11:g.19204535_19204536del, NC_000001.11:g.19204536del, NC_000001.11:g.19204536dup, NC_000001.11:g.19204535_19204536dup, NC_000001.11:g.19204534_19204536dup, NC_000001.10:g.19531027_19531030del, NC_000001.10:g.19531028_19531030del, NC_000001.10:g.19531029_19531030del, NC_000001.10:g.19531030del, NC_000001.10:g.19531030dup, NC_000001.10:g.19531029_19531030dup, NC_000001.10:g.19531028_19531030dup, NG_027669.1:g.10722_10725del, NG_027669.1:g.10723_10725del, NG_027669.1:g.10724_10725del, NG_027669.1:g.10725del, NG_027669.1:g.10725dup, NG_027669.1:g.10724_10725dup, NG_027669.1:g.10723_10725dup

Select item 149118935515.

rs1491189355 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 1:19187076 (GRCh38)
1:19513570 (GRCh37)
Canonical SPDI:: NC_000001.11:19187073:TTTT:TT,NC_000001.11:19187073:TTTT:TTTTTT
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.000066/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000012/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.19187076_19187077del, NC_000001.11:g.19187076_19187077dup, NC_000001.10:g.19513570_19513571del, NC_000001.10:g.19513570_19513571dup, NG_027669.1:g.28178_28179del, NG_027669.1:g.28178_28179dup

Select item 149118402916.

rs1491184029 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:19159603 (GRCh38)
1:19486097 (GRCh37)
Canonical SPDI:: NC_000001.11:19159602:CT:
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.19159603_19159604del, NC_000001.10:g.19486097_19486098del, NG_027669.1:g.55649_55650del

Select item 149103471417.

rs1491034714 has merged into rs879493036 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 1:19196019 (GRCh38)
1:19522513 (GRCh37)
Canonical SPDI:: NC_000001.11:19196017:AAA:A,NC_000001.11:19196017:AAA:AAAAA
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000243/30 (GnomAD)
HGVS:: NC_000001.11:g.19196019_19196020del, NC_000001.11:g.19196019_19196020dup, NC_000001.10:g.19522513_19522514del, NC_000001.10:g.19522513_19522514dup, NG_027669.1:g.19234_19235del, NG_027669.1:g.19234_19235dup

Select item 149102584318.

rs1491025843 has merged into rs879493036 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 1:19196019 (GRCh38)
1:19522513 (GRCh37)
Canonical SPDI:: NC_000001.11:19196017:AAA:A,NC_000001.11:19196017:AAA:AAAAA
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000243/30 (GnomAD)
HGVS:: NC_000001.11:g.19196019_19196020del, NC_000001.11:g.19196019_19196020dup, NC_000001.10:g.19522513_19522514del, NC_000001.10:g.19522513_19522514dup, NG_027669.1:g.19234_19235del, NG_027669.1:g.19234_19235dup

Select item 149102068419.

rs1491020684 has merged into rs35107779 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:19182355 (GRCh38)
1:19508849 (GRCh37)
Canonical SPDI:: NC_000001.11:19182344:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:19182344:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:19182344:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:19182344:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:19182344:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:19182344:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:19182344:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBR4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4095/1878 (1000Genomes)
HGVS:: NC_000001.11:g.19182355_19182356del, NC_000001.11:g.19182356del, NC_000001.11:g.19182356dup, NC_000001.11:g.19182355_19182356dup, NC_000001.11:g.19182352_19182356dup, NC_000001.11:g.19182350_19182356dup, NC_000001.11:g.19182345_19182356dup, NC_000001.10:g.19508849_19508850del, NC_000001.10:g.19508850del, NC_000001.10:g.19508850dup, NC_000001.10:g.19508849_19508850dup, NC_000001.10:g.19508846_19508850dup, NC_000001.10:g.19508844_19508850dup, NC_000001.10:g.19508839_19508850dup, NG_027669.1:g.32907_32908del, NG_027669.1:g.32908del, NG_027669.1:g.32908dup, NG_027669.1:g.32907_32908dup, NG_027669.1:g.32904_32908dup, NG_027669.1:g.32902_32908dup, NG_027669.1:g.32897_32908dup

Select item 149101736820.

rs1491017368 has merged into rs71030137 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:19208476 (GRCh38)
1:19534970 (GRCh37)
Canonical SPDI:: NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19208466:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBR4 (Varview), EMC1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.19208476_19208489del, NC_000001.11:g.19208477_19208489del, NC_000001.11:g.19208478_19208489del, NC_000001.11:g.19208479_19208489del, NC_000001.11:g.19208480_19208489del, NC_000001.11:g.19208481_19208489del, NC_000001.11:g.19208482_19208489del, NC_000001.11:g.19208483_19208489del, NC_000001.11:g.19208484_19208489del, NC_000001.11:g.19208485_19208489del, NC_000001.11:g.19208486_19208489del, NC_000001.11:g.19208487_19208489del, NC_000001.11:g.19208488_19208489del, NC_000001.11:g.19208489del, NC_000001.11:g.19208489dup, NC_000001.11:g.19208488_19208489dup, NC_000001.11:g.19208487_19208489dup, NC_000001.11:g.19208486_19208489dup, NC_000001.11:g.19208485_19208489dup, NC_000001.11:g.19208484_19208489dup, NC_000001.11:g.19208483_19208489dup, NC_000001.11:g.19208482_19208489dup, NC_000001.11:g.19208481_19208489dup, NC_000001.11:g.19208475_19208489dup, NC_000001.11:g.19208489_19208490insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.19208489_19208490insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.19534970_19534983del, NC_000001.10:g.19534971_19534983del, NC_000001.10:g.19534972_19534983del, NC_000001.10:g.19534973_19534983del, NC_000001.10:g.19534974_19534983del, NC_000001.10:g.19534975_19534983del, NC_000001.10:g.19534976_19534983del, NC_000001.10:g.19534977_19534983del, NC_000001.10:g.19534978_19534983del, NC_000001.10:g.19534979_19534983del, NC_000001.10:g.19534980_19534983del, NC_000001.10:g.19534981_19534983del, NC_000001.10:g.19534982_19534983del, NC_000001.10:g.19534983del, NC_000001.10:g.19534983dup, NC_000001.10:g.19534982_19534983dup, NC_000001.10:g.19534981_19534983dup, NC_000001.10:g.19534980_19534983dup, NC_000001.10:g.19534979_19534983dup, NC_000001.10:g.19534978_19534983dup, NC_000001.10:g.19534977_19534983dup, NC_000001.10:g.19534976_19534983dup, NC_000001.10:g.19534975_19534983dup, NC_000001.10:g.19534969_19534983dup, NC_000001.10:g.19534983_19534984insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.19534983_19534984insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027669.1:g.6773_6786del, NG_027669.1:g.6774_6786del, NG_027669.1:g.6775_6786del, NG_027669.1:g.6776_6786del, NG_027669.1:g.6777_6786del, NG_027669.1:g.6778_6786del, NG_027669.1:g.6779_6786del, NG_027669.1:g.6780_6786del, NG_027669.1:g.6781_6786del, NG_027669.1:g.6782_6786del, NG_027669.1:g.6783_6786del, NG_027669.1:g.6784_6786del, NG_027669.1:g.6785_6786del, NG_027669.1:g.6786del, NG_027669.1:g.6786dup, NG_027669.1:g.6785_6786dup, NG_027669.1:g.6784_6786dup, NG_027669.1:g.6783_6786dup, NG_027669.1:g.6782_6786dup, NG_027669.1:g.6781_6786dup, NG_027669.1:g.6780_6786dup, NG_027669.1:g.6779_6786dup, NG_027669.1:g.6778_6786dup, NG_027669.1:g.6772_6786dup, NG_027669.1:g.6786_6787insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027669.1:g.6786_6787insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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