SNP Links for Gene (Select 84959) - SNP

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Select item 14915848851.

rs1491584885 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:122721244 (GRCh38)
11:122591952 (GRCh37)
Canonical SPDI:: NC_000011.10:122721243:CA:
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00464/55 (ALFA)
-=0.00025/15 (GnomAD)
-=0.00215/60 (TOMMO)
HGVS:: NC_000011.10:g.122721244_122721245del, NC_000011.9:g.122591952_122591953del

Select item 14915558702.

rs1491555870 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTCTTTCTT [Show Flanks]
Chromosome:: 11:122699538 (GRCh38)
11:122570247 (GRCh37)
Canonical SPDI:: NC_000011.10:122699538:TTCTTTCTTTCTT:TTCTTTCTTTCTTCTTTCTTTCTT
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000011.10:g.122699541_122699551dup, NC_000011.9:g.122570249_122570259dup

Select item 14915533263.

rs1491553326 has merged into rs57305276 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 11:122683762 (GRCh38)
11:122554470 (GRCh37)
Canonical SPDI:: NC_000011.10:122683743:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000011.10:122683743:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000011.10:122683743:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:122683743:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:122683743:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:122683743:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:122683743:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:122683743:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:122683743:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:122683743:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000011.10:122683743:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: UBASH3B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000011.10:g.122683744TG[9], NC_000011.10:g.122683744TG[10], NC_000011.10:g.122683744TG[11], NC_000011.10:g.122683744TG[12], NC_000011.10:g.122683744TG[13], NC_000011.10:g.122683744TG[14], NC_000011.10:g.122683744TG[15], NC_000011.10:g.122683744TG[16], NC_000011.10:g.122683744TG[18], NC_000011.10:g.122683744TG[19], NC_000011.10:g.122683744TG[20], NC_000011.9:g.122554452TG[9], NC_000011.9:g.122554452TG[10], NC_000011.9:g.122554452TG[11], NC_000011.9:g.122554452TG[12], NC_000011.9:g.122554452TG[13], NC_000011.9:g.122554452TG[14], NC_000011.9:g.122554452TG[15], NC_000011.9:g.122554452TG[16], NC_000011.9:g.122554452TG[18], NC_000011.9:g.122554452TG[19], NC_000011.9:g.122554452TG[20]

Select item 14915389454.

rs1491538945 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 11:122699543 (GRCh38)
11:122570251 (GRCh37)
Canonical SPDI:: NC_000011.10:122699541:TTT:T,NC_000011.10:122699541:TTT:TT,NC_000011.10:122699541:TTT:TTTT,NC_000011.10:122699541:TTT:TTTTT
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.01505/58 (ALSPAC)
-=0.01591/59 (TWINSUK)
HGVS:: NC_000011.10:g.122699543_122699544del, NC_000011.10:g.122699544del, NC_000011.10:g.122699544dup, NC_000011.10:g.122699543_122699544dup, NC_000011.9:g.122570251_122570252del, NC_000011.9:g.122570252del, NC_000011.9:g.122570252dup, NC_000011.9:g.122570251_122570252dup

Select item 14915287135.

rs1491528713 has merged into rs200749669 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 11:122792306 (GRCh38)
11:122663014 (GRCh37)
Canonical SPDI:: NC_000011.10:122792300:TTTTTTTTTTT:TTTTT,NC_000011.10:122792300:TTTTTTTTTTT:TTTTTTTTT,NC_000011.10:122792300:TTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:122792300:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:122792300:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: UBASH3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.088333/53 (NorthernSweden)
-=0.138441/2320 (TOMMO)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000011.10:g.122792306_122792311del, NC_000011.10:g.122792310_122792311del, NC_000011.10:g.122792311del, NC_000011.10:g.122792311dup, NC_000011.10:g.122792310_122792311dup, NC_000011.9:g.122663014_122663019del, NC_000011.9:g.122663018_122663019del, NC_000011.9:g.122663019del, NC_000011.9:g.122663019dup, NC_000011.9:g.122663018_122663019dup

Select item 14915140376.

rs1491514037 has merged into rs753738483 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTGTTT [Show Flanks]
Chromosome:: 11:122699539 (GRCh38)
11:122570247 (GRCh37)
Canonical SPDI:: NC_000011.10:122699537:TTT:T,NC_000011.10:122699537:TTT:TTTGTTT
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000164/18 (GnomAD)
TTTG=0.097896/363 (TWINSUK)
TTTG=0.105605/407 (ALSPAC)
HGVS:: NC_000011.10:g.122699539_122699540del, NC_000011.10:g.122699540_122699541insGTTT, NC_000011.9:g.122570247_122570248del, NC_000011.9:g.122570248_122570249insGTTT

Select item 14915074767.

rs1491507476 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:122683743 (GRCh38)
11:122554451 (GRCh37)
Canonical SPDI:: NC_000011.10:122683742:TT:
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000011.10:g.122683743_122683744del, NC_000011.9:g.122554451_122554452del

Select item 14915007678.

rs1491500767 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 11:122661859 (GRCh38)
11:122532568 (GRCh37)
Canonical SPDI:: NC_000011.10:122661859::CA
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
CA=0.000004/1 (TOPMED)
CA=0.00001/1 (GnomAD)
HGVS:: NC_000011.10:g.122661859_122661860insCA, NC_000011.9:g.122532567_122532568insCA

Select item 14914962289.

rs1491496228 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTT
Chromosome:: no mapping
Canonical SPDI:

Select item 149148781410.

rs1491487814 has merged into rs869173807 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 11:122699534 (GRCh38)
11:122570242 (GRCh37)
Canonical SPDI:: NC_000011.10:122699533:TTT:TT,NC_000011.10:122699533:TTT:TTTT,NC_000011.10:122699533:TTT:TTTTT
Gene:: UBASH3B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.122699536del, NC_000011.10:g.122699536dup, NC_000011.10:g.122699535_122699536dup, NC_000011.9:g.122570244del, NC_000011.9:g.122570244dup, NC_000011.9:g.122570243_122570244dup

Select item 149147964111.

rs1491479641 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTTA
Chromosome:: no mapping
Canonical SPDI:

Select item 149147749012.

rs1491477490 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:122690213 (GRCh38)
11:122560921 (GRCh37)
Canonical SPDI:: NC_000011.10:122690212:AT:
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00122/19 (TOMMO)
-=0.00629/126 (GnomAD)
HGVS:: NC_000011.10:g.122690213_122690214del, NC_000011.9:g.122560921_122560922del

Select item 149146779813.

rs1491467798 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:122730004 (GRCh38)
11:122600712 (GRCh37)
Canonical SPDI:: NC_000011.10:122730003:AG:
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000338/4 (ALFA)
-=0.003737/473 (GnomAD)
-=0.009994/64 (1000Genomes)
HGVS:: NC_000011.10:g.122730004_122730005del, NC_000011.9:g.122600712_122600713del

Select item 149146330214.

rs1491463302 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:122662994 (GRCh38)
11:122533702 (GRCh37)
Canonical SPDI:: NC_000011.10:122662993:TG:
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000011.10:g.122662994_122662995del, NC_000011.9:g.122533702_122533703del

Select item 149144722715.

rs1491447227 has merged into rs59693425 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 11:122683253 (GRCh38)
11:122553961 (GRCh37)
Canonical SPDI:: NC_000011.10:122683239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:122683239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:122683239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:122683239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:122683239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:122683239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: UBASH3B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0957/369 (ALSPAC)
A=0.4696/2352 (1000Genomes)
HGVS:: NC_000011.10:g.122683253_122683256del, NC_000011.10:g.122683254_122683256del, NC_000011.10:g.122683255_122683256del, NC_000011.10:g.122683256del, NC_000011.10:g.122683256dup, NC_000011.10:g.122683255_122683256dup, NC_000011.9:g.122553961_122553964del, NC_000011.9:g.122553962_122553964del, NC_000011.9:g.122553963_122553964del, NC_000011.9:g.122553964del, NC_000011.9:g.122553964dup, NC_000011.9:g.122553963_122553964dup

Select item 149144504616.

rs1491445046 has merged into rs34408096 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 11:122670191 (GRCh38)
11:122540899 (GRCh37)
Canonical SPDI:: NC_000011.10:122670179:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000011.10:122670179:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000011.10:122670179:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000011.10:122670179:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000011.10:122670179:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000011.10:122670179:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:122670179:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:122670179:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: UBASH3B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
-=0.145/87 (NorthernSweden)
HGVS:: NC_000011.10:g.122670181GT[5], NC_000011.10:g.122670181GT[6], NC_000011.10:g.122670181GT[7], NC_000011.10:g.122670181GT[8], NC_000011.10:g.122670181GT[9], NC_000011.10:g.122670181GT[11], NC_000011.10:g.122670181GT[12], NC_000011.10:g.122670181GT[13], NC_000011.9:g.122540889GT[5], NC_000011.9:g.122540889GT[6], NC_000011.9:g.122540889GT[7], NC_000011.9:g.122540889GT[8], NC_000011.9:g.122540889GT[9], NC_000011.9:g.122540889GT[11], NC_000011.9:g.122540889GT[12], NC_000011.9:g.122540889GT[13]

Select item 149143601417.

rs1491436014 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:122681693 (GRCh38)
11:122552401 (GRCh37)
Canonical SPDI:: NC_000011.10:122681692:TG:
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.122681693_122681694del, NC_000011.9:g.122552401_122552402del

Select item 149141915118.

rs1491419151 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:122712034 (GRCh38)
11:122582742 (GRCh37)
Canonical SPDI:: NC_000011.10:122712033:AT:
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.122712034_122712035del, NC_000011.9:g.122582742_122582743del

Select item 149141661819.

rs1491416618 has merged into rs60342970 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGG>-,G,GG,GGG,GGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG [Show Flanks]
Chromosome:: 11:122688988 (GRCh38)
11:122559696 (GRCh37)
Canonical SPDI:: NC_000011.10:122688978:GGGGGGGGGGGGGG:GGGGGGGGG,NC_000011.10:122688978:GGGGGGGGGGGGGG:GGGGGGGGGG,NC_000011.10:122688978:GGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000011.10:122688978:GGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000011.10:122688978:GGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000011.10:122688978:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000011.10:122688978:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000011.10:122688978:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000011.10:122688978:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG
Gene:: UBASH3B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
GGG=0.0003/1 (TWINSUK)
GGG=0.0026/10 (ALSPAC)
GGG=0.0056/28 (1000Genomes)
GGG=0.2/8 (GENOME_DK)
HGVS:: NC_000011.10:g.122688988_122688992del, NC_000011.10:g.122688989_122688992del, NC_000011.10:g.122688990_122688992del, NC_000011.10:g.122688991_122688992del, NC_000011.10:g.122688992del, NC_000011.10:g.122688992dup, NC_000011.10:g.122688991_122688992dup, NC_000011.10:g.122688990_122688992dup, NC_000011.10:g.122688989_122688992dup, NC_000011.9:g.122559696_122559700del, NC_000011.9:g.122559697_122559700del, NC_000011.9:g.122559698_122559700del, NC_000011.9:g.122559699_122559700del, NC_000011.9:g.122559700del, NC_000011.9:g.122559700dup, NC_000011.9:g.122559699_122559700dup, NC_000011.9:g.122559698_122559700dup, NC_000011.9:g.122559697_122559700dup

Select item 149139464220.

rs1491394642 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTC [Show Flanks]
Chromosome:: 11:122693063 (GRCh38)
11:122563772 (GRCh37)
Canonical SPDI:: NC_000011.10:122693063:CATTC:CATTCATTC
Gene:: UBASH3B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATTCATTC=0./0 (ALFA)
CATT=0.000004/1 (TOPMED)
CATT=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.122693065_122693068dup, NC_000011.9:g.122563773_122563776dup

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