SNP Links for Gene (Select 134510) - SNP

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Select item 14915837041.

rs1491583704 has merged into rs375590077 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 5:159285245 (GRCh38)
5:158712253 (GRCh37)
Canonical SPDI:: NC_000005.10:159285243:AAA:A,NC_000005.10:159285243:AAA:AA,NC_000005.10:159285243:AAA:AAAA
Gene:: UBLCP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.04099/152 (TWINSUK)
-=0.11255/61 (NorthernSweden)
-=0.12891/2063 (TOMMO)
-=0.13544/227 (Korea1K)
-=0.17693/17579 (GnomAD)
-=0.225/9 (GENOME_DK)
-=0.28415/1423 (1000Genomes)
HGVS:: NC_000005.10:g.159285245_159285246del, NC_000005.10:g.159285246del, NC_000005.10:g.159285246dup, NC_000005.9:g.158712253_158712254del, NC_000005.9:g.158712254del, NC_000005.9:g.158712254dup, NM_145049.5:c.*314_*315del, NM_145049.5:c.*315del, NM_145049.5:c.*315dup, NM_145049.4:c.*314_*315del, NM_145049.4:c.*315del, NM_145049.4:c.*315dup, NM_145049.3:c.*314_*315del, NM_145049.3:c.*315del, NM_145049.3:c.*315dup

Select item 14915226512.

rs1491522651 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 5:159270962 (GRCh38)
5:158697971 (GRCh37)
Canonical SPDI:: NC_000005.10:159270962:T:TGT
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
TG=0.000013/1 (GnomAD)
HGVS:: NC_000005.10:g.159270963_159270964insGT, NC_000005.9:g.158697971_158697972insGT

Select item 14914910373.

rs1491491037 has merged into rs34045819 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:159261652 (GRCh38)
5:158688660 (GRCh37)
Canonical SPDI:: NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:159261648:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBLCP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.159261652_159261669del, NC_000005.10:g.159261658_159261669del, NC_000005.10:g.159261659_159261669del, NC_000005.10:g.159261660_159261669del, NC_000005.10:g.159261662_159261669del, NC_000005.10:g.159261663_159261669del, NC_000005.10:g.159261664_159261669del, NC_000005.10:g.159261665_159261669del, NC_000005.10:g.159261667_159261669del, NC_000005.10:g.159261668_159261669del, NC_000005.10:g.159261669del, NC_000005.10:g.159261669dup, NC_000005.10:g.159261668_159261669dup, NC_000005.10:g.159261667_159261669dup, NC_000005.10:g.159261666_159261669dup, NC_000005.10:g.159261665_159261669dup, NC_000005.10:g.159261664_159261669dup, NC_000005.10:g.159261663_159261669dup, NC_000005.10:g.159261662_159261669dup, NC_000005.10:g.159261661_159261669dup, NC_000005.10:g.159261660_159261669dup, NC_000005.10:g.159261655_159261669dup, NC_000005.10:g.159261654_159261669dup, NC_000005.10:g.159261669_159261670insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.158688660_158688677del, NC_000005.9:g.158688666_158688677del, NC_000005.9:g.158688667_158688677del, NC_000005.9:g.158688668_158688677del, NC_000005.9:g.158688670_158688677del, NC_000005.9:g.158688671_158688677del, NC_000005.9:g.158688672_158688677del, NC_000005.9:g.158688673_158688677del, NC_000005.9:g.158688675_158688677del, NC_000005.9:g.158688676_158688677del, NC_000005.9:g.158688677del, NC_000005.9:g.158688677dup, NC_000005.9:g.158688676_158688677dup, NC_000005.9:g.158688675_158688677dup, NC_000005.9:g.158688674_158688677dup, NC_000005.9:g.158688673_158688677dup, NC_000005.9:g.158688672_158688677dup, NC_000005.9:g.158688671_158688677dup, NC_000005.9:g.158688670_158688677dup, NC_000005.9:g.158688669_158688677dup, NC_000005.9:g.158688668_158688677dup, NC_000005.9:g.158688663_158688677dup, NC_000005.9:g.158688662_158688677dup, NC_000005.9:g.158688677_158688678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914090864.

rs1491409086 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT,CTTTCTT [Show Flanks]
Chromosome:: 5:159261649 (GRCh38)
5:158688658 (GRCh37)
Canonical SPDI:: NC_000005.10:159261649:TT:TTCTT,NC_000005.10:159261649:TT:TTCTTTCTT
Gene:: UBLCP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.02242/266 (ALFA)
HGVS:: NC_000005.10:g.159261651_159261652insCTT, NC_000005.10:g.159261650_159261651TTCT[2]T[1], NC_000005.9:g.158688659_158688660insCTT, NC_000005.9:g.158688658_158688659TTCT[2]T[1]

Select item 14913737155.

rs1491373715 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 5:159270984 (GRCh38)
5:158697992 (GRCh37)
Canonical SPDI:: NC_000005.10:159270972:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000005.10:159270972:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.00138/23 (TOMMO)
TG=0.00437/8 (Korea1K)
HGVS:: NC_000005.10:g.159270974GT[5], NC_000005.10:g.159270974GT[7], NC_000005.9:g.158697982GT[5], NC_000005.9:g.158697982GT[7]

Select item 14911697456.

rs1491169745 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CAC,CACAC,CACACAC,CACACACAC,CACACACACAC,CACACACACACAC,CACACACACACACACACACAC [Show Flanks]
Chromosome:: 5:159285244 (GRCh38)
5:158712253 (GRCh37)
Canonical SPDI:: NC_000005.10:159285244::C,NC_000005.10:159285244::CAC,NC_000005.10:159285244::CACAC,NC_000005.10:159285244::CACACAC,NC_000005.10:159285244::CACACACAC,NC_000005.10:159285244::CACACACACAC,NC_000005.10:159285244::CACACACACACAC,NC_000005.10:159285244::CACACACACACACACACACAC
Gene:: UBLCP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
CACACACAC=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.159285244_159285245insC, NC_000005.10:g.159285244_159285245insCAC, NC_000005.10:g.159285244_159285245insCACAC, NC_000005.10:g.159285244_159285245insCACACAC, NC_000005.10:g.159285244_159285245insCACACACAC, NC_000005.10:g.159285244_159285245insCACACACACAC, NC_000005.10:g.159285244_159285245insCACACACACACAC, NC_000005.10:g.159285244_159285245insCACACACACACACACACACAC, NC_000005.9:g.158712252_158712253insC, NC_000005.9:g.158712252_158712253insCAC, NC_000005.9:g.158712252_158712253insCACAC, NC_000005.9:g.158712252_158712253insCACACAC, NC_000005.9:g.158712252_158712253insCACACACAC, NC_000005.9:g.158712252_158712253insCACACACACAC, NC_000005.9:g.158712252_158712253insCACACACACACAC, NC_000005.9:g.158712252_158712253insCACACACACACACACACACAC, NM_145049.5:c.*313_*314insC, NM_145049.5:c.*313_*314insCAC, NM_145049.5:c.*313_*314insCACAC, NM_145049.5:c.*313_*314insCACACAC, NM_145049.5:c.*313_*314insCACACACAC, NM_145049.5:c.*313_*314insCACACACACAC, NM_145049.5:c.*313_*314insCACACACACACAC, NM_145049.5:c.*313_*314insCACACACACACACACACACAC, NM_145049.4:c.*313_*314insC, NM_145049.4:c.*313_*314insCAC, NM_145049.4:c.*313_*314insCACAC, NM_145049.4:c.*313_*314insCACACAC, NM_145049.4:c.*313_*314insCACACACAC, NM_145049.4:c.*313_*314insCACACACACAC, NM_145049.4:c.*313_*314insCACACACACACAC, NM_145049.4:c.*313_*314insCACACACACACACACACACAC, NM_145049.3:c.*313_*314insC, NM_145049.3:c.*313_*314insCAC, NM_145049.3:c.*313_*314insCACAC, NM_145049.3:c.*313_*314insCACACAC, NM_145049.3:c.*313_*314insCACACACAC, NM_145049.3:c.*313_*314insCACACACACAC, NM_145049.3:c.*313_*314insCACACACACACAC, NM_145049.3:c.*313_*314insCACACACACACACACACACAC

Select item 14908444067.

rs1490844406 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTA>- [Show Flanks]
Chromosome:: 5:159284216 (GRCh38)
5:158711224 (GRCh37)
Canonical SPDI:: NC_000005.10:159284213:TACTTA:TA
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TA=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.159284216_159284219del, NC_000005.9:g.158711224_158711227del

Select item 14907168888.

rs1490716888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:159262297 (GRCh38)
5:158689305 (GRCh37)
Canonical SPDI:: NC_000005.10:159262296:T:A,NC_000005.10:159262296:T:C
Gene:: UBLCP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000035/1 (TOMMO)
C=0.000053/14 (TOPMED)
C=0.000059/7 (GnomAD)
HGVS:: NC_000005.10:g.159262297T>A, NC_000005.10:g.159262297T>C, NC_000005.9:g.158689305T>A, NC_000005.9:g.158689305T>C

Select item 14906074779.

rs1490607477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:159280638 (GRCh38)
5:158707646 (GRCh37)
Canonical SPDI:: NC_000005.10:159280637:G:A
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.159280638G>A, NC_000005.9:g.158707646G>A

Select item 149057462910.

rs1490574629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:159273598 (GRCh38)
5:158700606 (GRCh37)
Canonical SPDI:: NC_000005.10:159273597:T:G
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.159273598T>G, NC_000005.9:g.158700606T>G

Select item 149029274811.

rs1490292748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:159281054 (GRCh38)
5:158708062 (GRCh37)
Canonical SPDI:: NC_000005.10:159281053:T:A
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.159281054T>A, NC_000005.9:g.158708062T>A

Select item 149028302312.

rs1490283023 has merged into rs963111857 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 5:159276929 (GRCh38)
5:158703937 (GRCh37)
Canonical SPDI:: NC_000005.10:159276928:TTTTTTTT:TTTTTTT,NC_000005.10:159276928:TTTTTTTT:TTTTTTTTT
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00109/7 (1000Genomes)
-=0.00164/3 (Korea1K)
HGVS:: NC_000005.10:g.159276936del, NC_000005.10:g.159276936dup, NC_000005.9:g.158703944del, NC_000005.9:g.158703944dup

Select item 149018034513.

rs1490180345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:159266885 (GRCh38)
5:158693893 (GRCh37)
Canonical SPDI:: NC_000005.10:159266884:A:G
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.159266885A>G, NC_000005.9:g.158693893A>G

Select item 148974643314.

rs1489746433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:159271579 (GRCh38)
5:158698587 (GRCh37)
Canonical SPDI:: NC_000005.10:159271578:A:G
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.159271579A>G, NC_000005.9:g.158698587A>G

Select item 148974260515.

rs1489742605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:159286248 (GRCh38)
5:158713256 (GRCh37)
Canonical SPDI:: NC_000005.10:159286247:G:A
Gene:: UBLCP1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.159286248G>A, NC_000005.9:g.158713256G>A

Select item 148964052116.

rs1489640521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:159267326 (GRCh38)
5:158694334 (GRCh37)
Canonical SPDI:: NC_000005.10:159267325:G:A
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.159267326G>A, NC_000005.9:g.158694334G>A

Select item 148962470917.

rs1489624709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:159267998 (GRCh38)
5:158695006 (GRCh37)
Canonical SPDI:: NC_000005.10:159267997:G:A
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.159267998G>A, NC_000005.9:g.158695006G>A

Select item 148951036618.

rs1489510366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:159266907 (GRCh38)
5:158693915 (GRCh37)
Canonical SPDI:: NC_000005.10:159266906:A:C
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.159266907A>C, NC_000005.9:g.158693915A>C

Select item 148950165819.

rs1489501658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:159273701 (GRCh38)
5:158700709 (GRCh37)
Canonical SPDI:: NC_000005.10:159273700:T:C
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.159273701T>C, NC_000005.9:g.158700709T>C

Select item 148944379920.

rs1489443799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:159267151 (GRCh38)
5:158694159 (GRCh37)
Canonical SPDI:: NC_000005.10:159267150:C:T
Gene:: UBLCP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.159267151C>T, NC_000005.9:g.158694159C>T

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