SNP Links for Gene (Select 105371184) - SNP

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Select item 14913532551.

rs1491353255 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:680086 (GRCh38)
16:730086 (GRCh37)
Canonical SPDI:: NC_000016.10:680085:AG:
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.680086_680087del, NC_000016.9:g.730086_730087del, NG_034141.1:g.4976_4977del

Select item 14913009812.

rs1491300981 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:680086 (GRCh38)
16:730087 (GRCh37)
Canonical SPDI:: NC_000016.10:680086:GGGG:GGGGG
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.680090dup, NC_000016.9:g.730090dup, NG_034141.1:g.4980dup

Select item 14886444393.

rs1488644439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:679897 (GRCh38)
16:729897 (GRCh37)
Canonical SPDI:: NC_000016.10:679896:T:G
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.0011/13 (ALFA)
G=0.00003/3 (GnomAD)
HGVS:: NC_000016.10:g.679897T>G, NC_000016.9:g.729897T>G, NG_034141.1:g.4787T>G

Select item 14886442394.

rs1488644239 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGA>- [Show Flanks]
Chromosome:: 16:680908 (GRCh38)
16:730908 (GRCh37)
Canonical SPDI:: NC_000016.10:680905:GAGGA:GA
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.680908_680910del, NC_000016.9:g.730908_730910del, NG_034141.1:g.5798_5800del

Select item 14881386065.

rs1488138606 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:681733 (GRCh38)
16:731734 (GRCh37)
Canonical SPDI:: NC_000016.10:681733:GGGG:GGGGG
Gene:: STUB1 (Varview), JMJD8 (Varview), STUB1-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.681737dup, NC_000016.9:g.731737dup, NG_034141.1:g.6627dup, NM_001005920.4:c.*1060dup, NM_001005920.3:c.*1060dup, NM_001005920.2:c.*1060dup, NR_136651.3:n.1958dup, NR_136651.2:n.1958dup, NR_136651.1:n.2070dup, NR_136650.3:n.1953dup, NR_136650.2:n.1953dup, NR_136650.1:n.2065dup, NR_136652.3:n.1868dup, NR_136652.2:n.1868dup, NR_136652.1:n.1980dup, NM_001323918.3:c.*1094dup, NM_001323918.2:c.*1094dup, NM_001323918.1:c.*1094dup, NM_001323920.3:c.*1060dup, NM_001323920.2:c.*1060dup, NM_001323920.1:c.*1060dup, NM_001323922.3:c.*1094dup, NM_001323922.2:c.*1094dup, NM_001323922.1:c.*1094dup, NM_001323919.3:c.*1060dup, NM_001323919.2:c.*1060dup, NM_001323919.1:c.*1060dup

Select item 14877613026.

rs1487761302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:680100 (GRCh38)
16:730100 (GRCh37)
Canonical SPDI:: NC_000016.10:680099:A:G
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.680100A>G, NC_000016.9:g.730100A>G, NG_034141.1:g.4990A>G

Select item 14875799767.

rs1487579976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:680491 (GRCh38)
16:730491 (GRCh37)
Canonical SPDI:: NC_000016.10:680490:T:C
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.680491T>C, NC_000016.9:g.730491T>C, NG_034141.1:g.5381T>C, NM_005861.4:c.-35T>C, NM_005861.3:c.-35T>C, NM_005861.2:c.-35T>C, NM_001293197.2:c.-340T>C, NM_001293197.1:c.-340T>C

Select item 14875320918.

rs1487532091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:680864 (GRCh38)
16:730864 (GRCh37)
Canonical SPDI:: NC_000016.10:680863:G:A
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.680864G>A, NC_000016.9:g.730864G>A, NG_034141.1:g.5754G>A

Select item 14873309559.

rs1487330955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:680551 (GRCh38)
16:730551 (GRCh37)
Canonical SPDI:: NC_000016.10:680550:G:A
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000016.10:g.680551G>A, NC_000016.9:g.730551G>A, NG_034141.1:g.5441G>A, NM_005861.4:c.26G>A, NM_005861.3:c.26G>A, NM_005861.2:c.26G>A, NM_001293197.2:c.-280G>A, NM_001293197.1:c.-280G>A, NP_005852.2:p.Gly9Asp

Select item 148727397410.

rs1487273974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:678364 (GRCh38)
16:728364 (GRCh37)
Canonical SPDI:: NC_000016.10:678363:C:A,NC_000016.10:678363:C:T
Gene:: RHBDL1 (Varview), STUB1-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.678364C>A, NC_000016.10:g.678364C>T, NC_000016.9:g.728364C>A, NC_000016.9:g.728364C>T, NG_034141.1:g.3254C>A, NG_034141.1:g.3254C>T

Select item 148700333411.

rs1487003334 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 16:680041 (GRCh38)
16:730042 (GRCh37)
Canonical SPDI:: NC_000016.10:680041:G:GCG
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
HGVS:: NC_000016.10:g.680042_680043insCG, NC_000016.9:g.730042_730043insCG, NG_034141.1:g.4932_4933insCG

Select item 148673910712.

rs1486739107 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGGTGC [Show Flanks]
Chromosome:: 16:679924 (GRCh38)
16:729925 (GRCh37)
Canonical SPDI:: NC_000016.10:679924:GC:GCCGGGTGC
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GCCGGGTGC=0.00101/12 (ALFA)
HGVS:: NC_000016.10:g.679926_679927insCGGGTGC, NC_000016.9:g.729926_729927insCGGGTGC, NG_034141.1:g.4816_4817insCGGGTGC

Select item 148668736413.

rs1486687364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:679401 (GRCh38)
16:729401 (GRCh37)
Canonical SPDI:: NC_000016.10:679400:G:A
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.679401G>A, NC_000016.9:g.729401G>A, NG_034141.1:g.4291G>A, NM_032677.1:c.-395C>T

Select item 148647383614.

rs1486473836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:678982 (GRCh38)
16:728982 (GRCh37)
Canonical SPDI:: NC_000016.10:678981:C:A,NC_000016.10:678981:C:T
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.678982C>A, NC_000016.10:g.678982C>T, NC_000016.9:g.728982C>A, NC_000016.9:g.728982C>T, NG_034141.1:g.3872C>A, NG_034141.1:g.3872C>T, NM_032677.1:c.25G>T, NM_032677.1:c.25G>A, NR_136337.1:n.380G>T, NR_136337.1:n.380G>A

Select item 148557398515.

rs1485573985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:680275 (GRCh38)
16:730275 (GRCh37)
Canonical SPDI:: NC_000016.10:680274:C:G
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.680275C>G, NC_000016.9:g.730275C>G, NG_034141.1:g.5165C>G, NM_005861.3:c.-251C>G, NM_005861.2:c.-251C>G, NM_001293197.1:c.-556C>G

Select item 148549188216.

rs1485491882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:679711 (GRCh38)
16:729711 (GRCh37)
Canonical SPDI:: NC_000016.10:679710:G:T
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.679711G>T, NC_000016.9:g.729711G>T, NG_034141.1:g.4601G>T, NM_032677.1:c.-705C>A, NR_136337.1:n.67C>A

Select item 148541958317.

rs1485419583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:678617 (GRCh38)
16:728617 (GRCh37)
Canonical SPDI:: NC_000016.10:678616:G:A
Gene:: RHBDL1 (Varview), STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.678617G>A, NC_000016.9:g.728617G>A, NG_034141.1:g.3507G>A, NM_032677.1:c.*255C>T, NR_136337.1:n.617C>T

Select item 148509460318.

rs1485094603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:680076 (GRCh38)
16:730076 (GRCh37)
Canonical SPDI:: NC_000016.10:680075:G:A
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.680076G>A, NC_000016.9:g.730076G>A, NG_034141.1:g.4966G>A

Select item 148452135719.

rs1484521357 has merged into rs997257833 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCCGG>-,GCCCGGGCCCGG [Show Flanks]
Chromosome:: 16:680743 (GRCh38)
16:730743 (GRCh37)
Canonical SPDI:: NC_000016.10:680732:CCGGGCCCGGGCCCGG:CCGGGCCCGG,NC_000016.10:680732:CCGGGCCCGGGCCCGG:CCGGGCCCGGGCCCGGGCCCGG
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGGGCCCGGGCCCGGGCCCGG=0.000378/7 (ALFA)
-=0.000011/3 (TOPMED)
CCGGGC=0.000468/3 (1000Genomes)
CCGGGC=0.001339/6 (Estonian)
CCGGGC=0.008333/5 (NorthernSweden)
HGVS:: NC_000016.10:g.680737GCCCGG[1], NC_000016.10:g.680737GCCCGG[3], NC_000016.9:g.730737GCCCGG[1], NC_000016.9:g.730737GCCCGG[3], NG_034141.1:g.5627GCCCGG[1], NG_034141.1:g.5627GCCCGG[3]

Select item 148448030820.

rs1484480308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:681044 (GRCh38)
16:731044 (GRCh37)
Canonical SPDI:: NC_000016.10:681043:C:T
Gene:: STUB1 (Varview), STUB1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.681044C>T, NC_000016.9:g.731044C>T, NG_034141.1:g.5934C>T

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