SNP Links for Gene (Select 7323) - SNP

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Select item 14915265951.

rs1491526595 has merged into rs145975514 [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,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:102838818 (GRCh38)
4:103759975 (GRCh37)
Canonical SPDI:: NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE2D3 (Varview), UBE2D3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.44229/2215 (1000Genomes)
HGVS:: NC_000004.12:g.102838818_102838831del, NC_000004.12:g.102838819_102838831del, NC_000004.12:g.102838820_102838831del, NC_000004.12:g.102838821_102838831del, NC_000004.12:g.102838822_102838831del, NC_000004.12:g.102838823_102838831del, NC_000004.12:g.102838824_102838831del, NC_000004.12:g.102838825_102838831del, NC_000004.12:g.102838826_102838831del, NC_000004.12:g.102838827_102838831del, NC_000004.12:g.102838828_102838831del, NC_000004.12:g.102838829_102838831del, NC_000004.12:g.102838830_102838831del, NC_000004.12:g.102838831del, NC_000004.12:g.102838831dup, NC_000004.12:g.102838830_102838831dup, NC_000004.12:g.102838829_102838831dup, NC_000004.12:g.102838828_102838831dup, NC_000004.12:g.102838827_102838831dup, NC_000004.12:g.102838825_102838831dup, NC_000004.12:g.102838823_102838831dup, NC_000004.12:g.102838822_102838831dup, NC_000004.12:g.102838821_102838831dup, NC_000004.12:g.102838819_102838831dup, NC_000004.12:g.102838818_102838831dup, NC_000004.12:g.102838812_102838831dup, NC_000004.11:g.103759975_103759988del, NC_000004.11:g.103759976_103759988del, NC_000004.11:g.103759977_103759988del, NC_000004.11:g.103759978_103759988del, NC_000004.11:g.103759979_103759988del, NC_000004.11:g.103759980_103759988del, NC_000004.11:g.103759981_103759988del, NC_000004.11:g.103759982_103759988del, NC_000004.11:g.103759983_103759988del, NC_000004.11:g.103759984_103759988del, NC_000004.11:g.103759985_103759988del, NC_000004.11:g.103759986_103759988del, NC_000004.11:g.103759987_103759988del, NC_000004.11:g.103759988del, NC_000004.11:g.103759988dup, NC_000004.11:g.103759987_103759988dup, NC_000004.11:g.103759986_103759988dup, NC_000004.11:g.103759985_103759988dup, NC_000004.11:g.103759984_103759988dup, NC_000004.11:g.103759982_103759988dup, NC_000004.11:g.103759980_103759988dup, NC_000004.11:g.103759979_103759988dup, NC_000004.11:g.103759978_103759988dup, NC_000004.11:g.103759976_103759988dup, NC_000004.11:g.103759975_103759988dup, NC_000004.11:g.103759969_103759988dup

Select item 14914790022.

rs1491479002 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:102845021 (GRCh38)
4:103766178 (GRCh37)
Canonical SPDI:: NC_000004.12:102845020:CA:
Gene:: UBE2D3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00143/17 (ALFA)
-=0.00032/17 (GnomAD)
-=0.00111/2 (Korea1K)
HGVS:: NC_000004.12:g.102845021_102845022del, NC_000004.11:g.103766178_103766179del

Select item 14914724223.

rs1491472422 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:102799832 (GRCh38)
4:103720989 (GRCh37)
Canonical SPDI:: NC_000004.12:102799831:TG:
Gene:: UBE2D3 (Varview), LOC102723704 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.102799832_102799833del, NC_000004.11:g.103720989_103720990del

Select item 14914651224.

rs1491465122 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:102799838 (GRCh38)
4:103720996 (GRCh37)
Canonical SPDI:: NC_000004.12:102799838::C
Gene:: UBE2D3 (Varview), LOC102723704 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000022/3 (GnomAD)
HGVS:: NC_000004.12:g.102799838_102799839insC, NC_000004.11:g.103720995_103720996insC

Select item 14914260245.

rs1491426024 has merged into rs11386828 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 4:102811337 (GRCh38)
4:103732494 (GRCh37)
Canonical SPDI:: NC_000004.12:102811336:TT:T,NC_000004.12:102811336:TT:TTT
Gene:: UBE2D3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.464193/8595 (ALFA)
T=0.40178/2012 (1000Genomes)
T=0.407794/107939 (TOPMED)
T=0.418948/58341 (GnomAD)
-=0.45/18 (GENOME_DK)
-=0.450849/2018 (Estonian)
-=0.470415/7884 (TOMMO)
-=0.472222/1751 (TWINSUK)
-=0.473333/284 (NorthernSweden)
-=0.491956/1896 (ALSPAC)
T=0.495992/495 (GoNL)
HGVS:: NC_000004.12:g.102811338del, NC_000004.12:g.102811338dup, NC_000004.11:g.103732495del, NC_000004.11:g.103732495dup

Select item 14913607156.

rs1491360715 has merged into rs1406339119 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 4:102804116 (GRCh38)
4:103725273 (GRCh37)
Canonical SPDI:: NC_000004.12:102804115:TTTTTTTTT:TTTTTTTT,NC_000004.12:102804115:TTTTTTTTT:TTTTTTTTTT
Gene:: UBE2D3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000106/2 (TOMMO)
-=0.001092/2 (Korea1K)
-=0.001562/10 (1000Genomes)
HGVS:: NC_000004.12:g.102804124del, NC_000004.12:g.102804124dup, NC_000004.11:g.103725281del, NC_000004.11:g.103725281dup

Select item 14913560937.

rs1491356093 has merged into rs145975514 [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,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:102838818 (GRCh38)
4:103759975 (GRCh37)
Canonical SPDI:: NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102838807:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UBE2D3 (Varview), UBE2D3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.44229/2215 (1000Genomes)
HGVS:: NC_000004.12:g.102838818_102838831del, NC_000004.12:g.102838819_102838831del, NC_000004.12:g.102838820_102838831del, NC_000004.12:g.102838821_102838831del, NC_000004.12:g.102838822_102838831del, NC_000004.12:g.102838823_102838831del, NC_000004.12:g.102838824_102838831del, NC_000004.12:g.102838825_102838831del, NC_000004.12:g.102838826_102838831del, NC_000004.12:g.102838827_102838831del, NC_000004.12:g.102838828_102838831del, NC_000004.12:g.102838829_102838831del, NC_000004.12:g.102838830_102838831del, NC_000004.12:g.102838831del, NC_000004.12:g.102838831dup, NC_000004.12:g.102838830_102838831dup, NC_000004.12:g.102838829_102838831dup, NC_000004.12:g.102838828_102838831dup, NC_000004.12:g.102838827_102838831dup, NC_000004.12:g.102838825_102838831dup, NC_000004.12:g.102838823_102838831dup, NC_000004.12:g.102838822_102838831dup, NC_000004.12:g.102838821_102838831dup, NC_000004.12:g.102838819_102838831dup, NC_000004.12:g.102838818_102838831dup, NC_000004.12:g.102838812_102838831dup, NC_000004.11:g.103759975_103759988del, NC_000004.11:g.103759976_103759988del, NC_000004.11:g.103759977_103759988del, NC_000004.11:g.103759978_103759988del, NC_000004.11:g.103759979_103759988del, NC_000004.11:g.103759980_103759988del, NC_000004.11:g.103759981_103759988del, NC_000004.11:g.103759982_103759988del, NC_000004.11:g.103759983_103759988del, NC_000004.11:g.103759984_103759988del, NC_000004.11:g.103759985_103759988del, NC_000004.11:g.103759986_103759988del, NC_000004.11:g.103759987_103759988del, NC_000004.11:g.103759988del, NC_000004.11:g.103759988dup, NC_000004.11:g.103759987_103759988dup, NC_000004.11:g.103759986_103759988dup, NC_000004.11:g.103759985_103759988dup, NC_000004.11:g.103759984_103759988dup, NC_000004.11:g.103759982_103759988dup, NC_000004.11:g.103759980_103759988dup, NC_000004.11:g.103759979_103759988dup, NC_000004.11:g.103759978_103759988dup, NC_000004.11:g.103759976_103759988dup, NC_000004.11:g.103759975_103759988dup, NC_000004.11:g.103759969_103759988dup

Select item 14913442698.

rs1491344269 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG,GT [Show Flanks]
Chromosome:: 4:102848921 (GRCh38)
4:103770079 (GRCh37)
Canonical SPDI:: NC_000004.12:102848921::CG,NC_000004.12:102848921::GT
Gene:: UBE2D3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: CG=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.102848921_102848922insCG, NC_000004.12:g.102848921_102848922insGT, NC_000004.11:g.103770078_103770079insCG, NC_000004.11:g.103770078_103770079insGT

Select item 14913216639.

rs1491321663 has merged into rs36031423 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 4:102799842 (GRCh38)
4:103720999 (GRCh37)
Canonical SPDI:: NC_000004.12:102799832:GGGGGGGGGGGG:GGGGGGGGG,NC_000004.12:102799832:GGGGGGGGGGGG:GGGGGGGGGG,NC_000004.12:102799832:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000004.12:102799832:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000004.12:102799832:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000004.12:102799832:GGGGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: UBE2D3 (Varview), LOC102723704 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
-=0.082/316 (ALSPAC)
-=0.4894/2451 (1000Genomes)
HGVS:: NC_000004.12:g.102799842_102799844del, NC_000004.12:g.102799843_102799844del, NC_000004.12:g.102799844del, NC_000004.12:g.102799844dup, NC_000004.12:g.102799843_102799844dup, NC_000004.12:g.102799842_102799844dup, NC_000004.11:g.103720999_103721001del, NC_000004.11:g.103721000_103721001del, NC_000004.11:g.103721001del, NC_000004.11:g.103721001dup, NC_000004.11:g.103721000_103721001dup, NC_000004.11:g.103720999_103721001dup

Select item 149125445810.

rs1491254458 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:102812614 (GRCh38)
4:103733772 (GRCh37)
Canonical SPDI:: NC_000004.12:102812614:A:AA
Gene:: UBE2D3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.102812615dup, NC_000004.11:g.103733772dup

Select item 149125116111.

Error occurred: cannot get document summary

Select item 149118433512.

rs1491184335 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:102804115 (GRCh38)
4:103725272 (GRCh37)
Canonical SPDI:: NC_000004.12:102804114:CT:
Gene:: UBE2D3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.102804115_102804116del, NC_000004.11:g.103725272_103725273del

Select item 149116571813.

rs1491165718 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:102838807 (GRCh38)
4:103759964 (GRCh37)
Canonical SPDI:: NC_000004.12:102838806:CA:
Gene:: UBE2D3 (Varview), UBE2D3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.102838807_102838808del, NC_000004.11:g.103759964_103759965del

Select item 149115925214.

rs1491159252 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:102848921 (GRCh38)
4:103770078 (GRCh37)
Canonical SPDI:: NC_000004.12:102848920:CT:
Gene:: UBE2D3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00006/1 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00031/2 (1000Genomes)
-=0.00232/206 (GnomAD)
HGVS:: NC_000004.12:g.102848921_102848922del, NC_000004.11:g.103770078_103770079del

Select item 149114248015.

rs1491142480 has merged into rs151339235 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:102853148 (GRCh38)
4:103774305 (GRCh37)
Canonical SPDI:: NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102853135:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBE2D3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1087/185 (Korea1K)
HGVS:: NC_000004.12:g.102853148_102853160del, NC_000004.12:g.102853150_102853160del, NC_000004.12:g.102853151_102853160del, NC_000004.12:g.102853152_102853160del, NC_000004.12:g.102853153_102853160del, NC_000004.12:g.102853154_102853160del, NC_000004.12:g.102853155_102853160del, NC_000004.12:g.102853156_102853160del, NC_000004.12:g.102853157_102853160del, NC_000004.12:g.102853158_102853160del, NC_000004.12:g.102853159_102853160del, NC_000004.12:g.102853160del, NC_000004.12:g.102853160dup, NC_000004.12:g.102853159_102853160dup, NC_000004.12:g.102853158_102853160dup, NC_000004.12:g.102853157_102853160dup, NC_000004.12:g.102853156_102853160dup, NC_000004.12:g.102853155_102853160dup, NC_000004.12:g.102853154_102853160dup, NC_000004.12:g.102853153_102853160dup, NC_000004.12:g.102853152_102853160dup, NC_000004.12:g.102853151_102853160dup, NC_000004.12:g.102853150_102853160dup, NC_000004.12:g.102853149_102853160dup, NC_000004.12:g.102853148_102853160dup, NC_000004.12:g.102853147_102853160dup, NC_000004.12:g.102853146_102853160dup, NC_000004.12:g.102853138_102853160dup, NC_000004.12:g.102853160_102853161insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.102853160_102853161insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.103774305_103774317del, NC_000004.11:g.103774307_103774317del, NC_000004.11:g.103774308_103774317del, NC_000004.11:g.103774309_103774317del, NC_000004.11:g.103774310_103774317del, NC_000004.11:g.103774311_103774317del, NC_000004.11:g.103774312_103774317del, NC_000004.11:g.103774313_103774317del, NC_000004.11:g.103774314_103774317del, NC_000004.11:g.103774315_103774317del, NC_000004.11:g.103774316_103774317del, NC_000004.11:g.103774317del, NC_000004.11:g.103774317dup, NC_000004.11:g.103774316_103774317dup, NC_000004.11:g.103774315_103774317dup, NC_000004.11:g.103774314_103774317dup, NC_000004.11:g.103774313_103774317dup, NC_000004.11:g.103774312_103774317dup, NC_000004.11:g.103774311_103774317dup, NC_000004.11:g.103774310_103774317dup, NC_000004.11:g.103774309_103774317dup, NC_000004.11:g.103774308_103774317dup, NC_000004.11:g.103774307_103774317dup, NC_000004.11:g.103774306_103774317dup, NC_000004.11:g.103774305_103774317dup, NC_000004.11:g.103774304_103774317dup, NC_000004.11:g.103774303_103774317dup, NC_000004.11:g.103774295_103774317dup, NC_000004.11:g.103774317_103774318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.103774317_103774318insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149113913716.

rs1491139137 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:102821618 (GRCh38)
4:103742775 (GRCh37)
Canonical SPDI:: NC_000004.12:102821617:TA:
Gene:: UBE2D3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000285/4 (ALFA)
-=0.00017/23 (GnomAD)
-=0.000212/56 (TOPMED)
-=0.000531/9 (TOMMO)
-=0.001092/2 (Korea1K)
HGVS:: NC_000004.12:g.102821618_102821619del, NC_000004.11:g.103742775_103742776del

Select item 149113446117.

rs1491134461 has merged into rs386401015 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 4:102845033 (GRCh38)
4:103766190 (GRCh37)
Canonical SPDI:: NC_000004.12:102845021:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:102845021:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:102845021:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:102845021:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:102845021:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:102845021:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:102845021:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:102845021:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:102845021:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: UBE2D3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4301/2154 (1000Genomes)
HGVS:: NC_000004.12:g.102845033_102845040del, NC_000004.12:g.102845035_102845040del, NC_000004.12:g.102845036_102845040del, NC_000004.12:g.102845037_102845040del, NC_000004.12:g.102845038_102845040del, NC_000004.12:g.102845039_102845040del, NC_000004.12:g.102845040del, NC_000004.12:g.102845040dup, NC_000004.12:g.102845039_102845040dup, NC_000004.11:g.103766190_103766197del, NC_000004.11:g.103766192_103766197del, NC_000004.11:g.103766193_103766197del, NC_000004.11:g.103766194_103766197del, NC_000004.11:g.103766195_103766197del, NC_000004.11:g.103766196_103766197del, NC_000004.11:g.103766197del, NC_000004.11:g.103766197dup, NC_000004.11:g.103766196_103766197dup

Select item 149112756818.

rs1491127568 has merged into rs11386828 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 4:102811337 (GRCh38)
4:103732494 (GRCh37)
Canonical SPDI:: NC_000004.12:102811336:TT:T,NC_000004.12:102811336:TT:TTT
Gene:: UBE2D3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.464193/8595 (ALFA)
T=0.40178/2012 (1000Genomes)
T=0.407794/107939 (TOPMED)
T=0.418948/58341 (GnomAD)
-=0.45/18 (GENOME_DK)
-=0.450849/2018 (Estonian)
-=0.470415/7884 (TOMMO)
-=0.472222/1751 (TWINSUK)
-=0.473333/284 (NorthernSweden)
-=0.491956/1896 (ALSPAC)
T=0.495992/495 (GoNL)
HGVS:: NC_000004.12:g.102811338del, NC_000004.12:g.102811338dup, NC_000004.11:g.103732495del, NC_000004.11:g.103732495dup

Select item 149106889119.

rs1491068891 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATATATATATATATATATATATATCT,ATATATATATATATATATATATGT,ATATATATATATATATATTT [Show Flanks]
Chromosome:: 4:102798296 (GRCh38)
4:103719454 (GRCh37)
Canonical SPDI:: NC_000004.12:102798296:T:TATATATATATATATATATATATATATATATCT,NC_000004.12:102798296:T:TATATATATATATATATATATATGT,NC_000004.12:102798296:T:TATATATATATATATATATTT
Gene:: UBE2D3 (Varview), LOC102723704 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATATGT=0./0 (ALFA)
HGVS:: NC_000004.12:g.102798297TA[15]TCT[1], NC_000004.12:g.102798297TA[11]TGT[1], NC_000004.12:g.102798297TA[9]TTT[1], NC_000004.11:g.103719454TA[15]TCT[1], NC_000004.11:g.103719454TA[11]TGT[1], NC_000004.11:g.103719454TA[9]TTT[1]

Select item 149106308220.

rs1491063082 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:102838833 (GRCh38)
4:103759990 (GRCh37)
Canonical SPDI:: NC_000004.12:102838830:AGAG:AG
Gene:: UBE2D3 (Varview), UBE2D3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000071/1 (TOMMO)
-=0.000277/38 (GnomAD)
HGVS:: NC_000004.12:g.102838831AG[1], NC_000004.11:g.103759988AG[1]

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