SNP Links for Gene (Select 51667) - SNP

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Select item 14914361911.

rs1491436191 has merged into rs11354135 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 7:151365328 (GRCh38)
7:151062414 (GRCh37)
Canonical SPDI:: NC_000007.14:151365318:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:151365318:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:151365318:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:151365318:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:151365318:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:151365318:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:151365318:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:151365318:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:151365318:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: NUB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.01945/326 (TOMMO)
T=0.1082/417 (ALSPAC)
T=0.11893/441 (TWINSUK)
T=0.22125/1108 (1000Genomes)
HGVS:: NC_000007.14:g.151365328_151365332del, NC_000007.14:g.151365329_151365332del, NC_000007.14:g.151365330_151365332del, NC_000007.14:g.151365331_151365332del, NC_000007.14:g.151365332del, NC_000007.14:g.151365332dup, NC_000007.14:g.151365331_151365332dup, NC_000007.14:g.151365330_151365332dup, NC_000007.14:g.151365329_151365332dup, NC_000007.13:g.151062414_151062418del, NC_000007.13:g.151062415_151062418del, NC_000007.13:g.151062416_151062418del, NC_000007.13:g.151062417_151062418del, NC_000007.13:g.151062418del, NC_000007.13:g.151062418dup, NC_000007.13:g.151062417_151062418dup, NC_000007.13:g.151062416_151062418dup, NC_000007.13:g.151062415_151062418dup, NG_029746.2:g.28568_28572del, NG_029746.2:g.28569_28572del, NG_029746.2:g.28570_28572del, NG_029746.2:g.28571_28572del, NG_029746.2:g.28572del, NG_029746.2:g.28572dup, NG_029746.2:g.28571_28572dup, NG_029746.2:g.28570_28572dup, NG_029746.2:g.28569_28572dup

Select item 14914098482.

rs1491409848 has merged into rs568187789 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 7:151363756 (GRCh38)
7:151060842 (GRCh37)
Canonical SPDI:: NC_000007.14:151363751:AAAAAA:AAAA,NC_000007.14:151363751:AAAAAA:AAAAA
Gene:: NUB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.003043/42 (ALFA)
-=0.01708/2301 (GnomAD)
-=0.019831/99 (1000Genomes)
HGVS:: NC_000007.14:g.151363756_151363757del, NC_000007.14:g.151363757del, NC_000007.13:g.151060842_151060843del, NC_000007.13:g.151060843del, NG_029746.2:g.26996_26997del, NG_029746.2:g.26997del

Select item 14911416133.

rs1491141613 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:151365319 (GRCh38)
7:151062406 (GRCh37)
Canonical SPDI:: NC_000007.14:151365319::C
Gene:: NUB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.0003/2 (GnomAD)
HGVS:: NC_000007.14:g.151365319_151365320insC, NC_000007.13:g.151062405_151062406insC, NG_029746.2:g.28559_28560insC

Select item 14910777784.

rs1491077778 has merged into rs11414801 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:151365899 (GRCh38)
7:151062985 (GRCh37)
Canonical SPDI:: NC_000007.14:151365890:TTTTTTTTTT:TTTTTTTT,NC_000007.14:151365890:TTTTTTTTTT:TTTTTTTTT,NC_000007.14:151365890:TTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:151365890:TTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:151365890:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:151365890:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: NUB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.0003/2 (ALFA)
-=0.1931/398 (1000Genomes)
-=0.2191/957 (Estonian)
-=0.2508/930 (TWINSUK)
-=0.2582/995 (ALSPAC)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000007.14:g.151365899_151365900del, NC_000007.14:g.151365900del, NC_000007.14:g.151365900dup, NC_000007.14:g.151365899_151365900dup, NC_000007.14:g.151365896_151365900dup, NC_000007.14:g.151365891_151365900dup, NC_000007.13:g.151062985_151062986del, NC_000007.13:g.151062986del, NC_000007.13:g.151062986dup, NC_000007.13:g.151062985_151062986dup, NC_000007.13:g.151062982_151062986dup, NC_000007.13:g.151062977_151062986dup, NG_029746.2:g.29139_29140del, NG_029746.2:g.29140del, NG_029746.2:g.29140dup, NG_029746.2:g.29139_29140dup, NG_029746.2:g.29136_29140dup, NG_029746.2:g.29131_29140dup

Select item 14908406935.

rs1490840693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151360190 (GRCh38)
7:151057276 (GRCh37)
Canonical SPDI:: NC_000007.14:151360189:A:G
Gene:: NUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151360190A>G, NC_000007.13:g.151057276A>G, NG_029746.2:g.23430A>G, NM_016118.5:c.743A>G, NM_016118.4:c.815A>G, NM_001363529.2:c.743A>G, NM_001363529.1:c.743A>G, NM_001243351.2:c.743A>G, NM_001243351.1:c.815A>G, NM_001385353.1:c.743A>G, NM_001385355.1:c.740A>G, NM_001385356.1:c.743A>G, NM_001385354.1:c.740A>G, NM_001385361.1:c.743A>G, XM_017012304.2:c.740A>G, XM_017012304.1:c.812A>G, XM_017012308.2:c.740A>G, XM_017012308.1:c.812A>G, XM_024446798.2:c.284A>G, XM_024446798.1:c.284A>G, NP_057202.4:p.Lys248Arg, NP_001350458.1:p.Lys248Arg, NP_001230280.2:p.Lys248Arg, NP_001372282.1:p.Lys248Arg, NP_001372284.1:p.Lys247Arg, NP_001372285.1:p.Lys248Arg, NP_001372283.1:p.Lys247Arg, NP_001372290.1:p.Lys248Arg, XP_016867793.2:p.Lys247Arg, XP_016867797.2:p.Lys247Arg, XP_024302566.1:p.Lys95Arg

Select item 14908254736.

rs1490825473 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 7:151374885 (GRCh38)
7:151071971 (GRCh37)
Canonical SPDI:: NC_000007.14:151374884:A:
Gene:: NUB1 (Varview), WDR86 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.151374885del, NC_000007.13:g.151071971del, NG_029746.2:g.38125del, XM_047420328.1:c.*5488del

Select item 14906665017.

rs1490666501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:151348539 (GRCh38)
7:151045625 (GRCh37)
Canonical SPDI:: NC_000007.14:151348538:C:A,NC_000007.14:151348538:C:G,NC_000007.14:151348538:C:T
Gene:: NUB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000023/6 (TOPMED)
A=0.00082/23 (TOMMO)
HGVS:: NC_000007.14:g.151348539C>A, NC_000007.14:g.151348539C>G, NC_000007.14:g.151348539C>T, NC_000007.13:g.151045625C>A, NC_000007.13:g.151045625C>G, NC_000007.13:g.151045625C>T, NG_029746.2:g.11779C>A, NG_029746.2:g.11779C>G, NG_029746.2:g.11779C>T

Select item 14906476408.

rs1490647640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:151355899 (GRCh38)
7:151052985 (GRCh37)
Canonical SPDI:: NC_000007.14:151355898:G:C
Gene:: NUB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151355899G>C, NC_000007.13:g.151052985G>C, NG_029746.2:g.19139G>C, NM_016118.5:c.547G>C, NM_016118.4:c.619G>C, NM_001363529.2:c.547G>C, NM_001363529.1:c.547G>C, NM_001243351.2:c.547G>C, NM_001243351.1:c.619G>C, NM_001385353.1:c.547G>C, NM_001385355.1:c.547G>C, NM_001385356.1:c.547G>C, NM_001385354.1:c.547G>C, NM_001385361.1:c.547G>C, XM_017012304.2:c.547G>C, XM_017012304.1:c.619G>C, XM_017012308.2:c.547G>C, XM_017012308.1:c.619G>C, XM_024446798.2:c.88G>C, XM_024446798.1:c.88G>C, NP_057202.4:p.Glu183Gln, NP_001350458.1:p.Glu183Gln, NP_001230280.2:p.Glu183Gln, NP_001372282.1:p.Glu183Gln, NP_001372284.1:p.Glu183Gln, NP_001372285.1:p.Glu183Gln, NP_001372283.1:p.Glu183Gln, NP_001372290.1:p.Glu183Gln, XP_016867793.2:p.Glu183Gln, XP_016867797.2:p.Glu183Gln, XP_024302566.1:p.Glu30Gln

Select item 14904557249.

rs1490455724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:151343916 (GRCh38)
7:151041002 (GRCh37)
Canonical SPDI:: NC_000007.14:151343915:T:G
Gene:: NUB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.151343916T>G, NC_000007.13:g.151041002T>G, NG_029746.2:g.7156T>G

Select item 149044139710.

rs1490441397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151342857 (GRCh38)
7:151039943 (GRCh37)
Canonical SPDI:: NC_000007.14:151342856:T:C
Gene:: NUB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151342857T>C, NC_000007.13:g.151039943T>C, NG_029746.2:g.6097T>C

Select item 149039237211.

rs1490392372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151358198 (GRCh38)
7:151055284 (GRCh37)
Canonical SPDI:: NC_000007.14:151358197:T:C
Gene:: NUB1 (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_000007.14:g.151358198T>C, NC_000007.13:g.151055284T>C, NG_029746.2:g.21438T>C

Select item 149035172712.

rs1490351727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151367839 (GRCh38)
7:151064925 (GRCh37)
Canonical SPDI:: NC_000007.14:151367838:T:C
Gene:: NUB1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.151367839T>C, NC_000007.13:g.151064925T>C, NG_029746.2:g.31079T>C

Select item 149033816913.

rs1490338169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:151350659 (GRCh38)
7:151047745 (GRCh37)
Canonical SPDI:: NC_000007.14:151350658:C:G
Gene:: NUB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.151350659C>G, NC_000007.13:g.151047745C>G, NG_029746.2:g.13899C>G

Select item 149027198114.

rs1490271981 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:151352955 (GRCh38)
7:151050041 (GRCh37)
Canonical SPDI:: NC_000007.14:151352954:A:T
Gene:: NUB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0025/11 (ALFA)
T=0.0025/11 (Estonian)
HGVS:: NC_000007.14:g.151352955A>T, NC_000007.13:g.151050041A>T, NG_029746.2:g.16195A>T

Select item 149012133515.

rs1490121335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151366039 (GRCh38)
7:151063125 (GRCh37)
Canonical SPDI:: NC_000007.14:151366038:G:A
Gene:: NUB1 (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_000007.14:g.151366039G>A, NC_000007.13:g.151063125G>A, NG_029746.2:g.29279G>A

Select item 149003316516.

rs1490033165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151355919 (GRCh38)
7:151053005 (GRCh37)
Canonical SPDI:: NC_000007.14:151355918:C:T
Gene:: NUB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151355919C>T, NC_000007.13:g.151053005C>T, NG_029746.2:g.19159C>T, NM_016118.5:c.567C>T, NM_016118.4:c.639C>T, NM_001363529.2:c.567C>T, NM_001363529.1:c.567C>T, NM_001243351.2:c.567C>T, NM_001243351.1:c.639C>T, NM_001385353.1:c.567C>T, NM_001385355.1:c.567C>T, NM_001385356.1:c.567C>T, NM_001385354.1:c.567C>T, NM_001385361.1:c.567C>T, XM_017012304.2:c.567C>T, XM_017012304.1:c.639C>T, XM_017012308.2:c.567C>T, XM_017012308.1:c.639C>T, XM_024446798.2:c.108C>T, XM_024446798.1:c.108C>T

Select item 148993417817.

rs1489934178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151344730 (GRCh38)
7:151041816 (GRCh37)
Canonical SPDI:: NC_000007.14:151344729:A:G
Gene:: NUB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151344730A>G, NC_000007.13:g.151041816A>G, NG_029746.2:g.7970A>G

Select item 148991855518.

rs1489918555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151344106 (GRCh38)
7:151041192 (GRCh37)
Canonical SPDI:: NC_000007.14:151344105:G:A
Gene:: NUB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.151344106G>A, NC_000007.13:g.151041192G>A, NG_029746.2:g.7346G>A

Select item 148985439219.

rs1489854392 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151375843 (GRCh38)
7:151072929 (GRCh37)
Canonical SPDI:: NC_000007.14:151375842:T:C
Gene:: NUB1 (Varview), WDR86 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,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_000007.14:g.151375843T>C, NC_000007.13:g.151072929T>C, NG_029746.2:g.39083T>C, XM_047420328.1:c.*4530A>G

Select item 148984758120.

rs1489847581 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>G
Chromosome:: no mapping
Canonical SPDI:

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