SNP Links for Gene (Select 284581) - SNP

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Select item 14915291121.

rs1491529112 has merged into rs201189093 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 1:205877753 (GRCh38)
1:205846881 (GRCh37)
Canonical SPDI:: NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: LOC284581 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000001.11:g.205877753_205877757del, NC_000001.11:g.205877755_205877757del, NC_000001.11:g.205877756_205877757del, NC_000001.11:g.205877757del, NC_000001.11:g.205877757dup, NC_000001.11:g.205877756_205877757dup, NC_000001.11:g.205877755_205877757dup, NC_000001.11:g.205877752_205877757dup, NC_000001.10:g.205846881_205846885del, NC_000001.10:g.205846883_205846885del, NC_000001.10:g.205846884_205846885del, NC_000001.10:g.205846885del, NC_000001.10:g.205846885dup, NC_000001.10:g.205846884_205846885dup, NC_000001.10:g.205846883_205846885dup, NC_000001.10:g.205846880_205846885dup

Select item 14914106522.

rs1491410652 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACAC [Show Flanks]
Chromosome:: 1:205884525 (GRCh38)
1:205853654 (GRCh37)
Canonical SPDI:: NC_000001.11:205884525::CACAC
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.205884525_205884526insCACAC, NC_000001.10:g.205853653_205853654insCACAC

Select item 14912711073.

rs1491271107 has merged into rs1553265330 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA [Show Flanks]
Chromosome:: 1:205884533 (GRCh38)
1:205853661 (GRCh37)
Canonical SPDI:: NC_000001.11:205884524:TATATATATATA:TATATATA,NC_000001.11:205884524:TATATATATATA:TATATATATA,NC_000001.11:205884524:TATATATATATA:TATATATATATATA,NC_000001.11:205884524:TATATATATATA:TATATATATATATATA
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
TA=0.00443/36 (TOMMO)
HGVS:: NC_000001.11:g.205884525TA[4], NC_000001.11:g.205884525TA[5], NC_000001.11:g.205884525TA[7], NC_000001.11:g.205884525TA[8], NC_000001.10:g.205853653TA[4], NC_000001.10:g.205853653TA[5], NC_000001.10:g.205853653TA[7], NC_000001.10:g.205853653TA[8]

Select item 14912406944.

rs1491240694 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,GC [Show Flanks]
Chromosome:: 1:205895657 (GRCh38)
1:205864786 (GRCh37)
Canonical SPDI:: NC_000001.11:205895657:C:CAC,NC_000001.11:205895657:C:CGC
Gene:: LOC284581 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
CA=0.00064/32 (GnomAD)
HGVS:: NC_000001.11:g.205895658_205895659insAC, NC_000001.11:g.205895658_205895659insGC, NC_000001.10:g.205864786_205864787insAC, NC_000001.10:g.205864786_205864787insGC, NR_046097.1:n.2165_2166insAC, NR_046097.1:n.2165_2166insGC, NR_046098.1:n.1813_1814insAC, NR_046098.1:n.1813_1814insGC

Select item 14911425725.

rs1491142572 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:205877742 (GRCh38)
1:205846870 (GRCh37)
Canonical SPDI:: NC_000001.11:205877741:AT:
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000071/9 (GnomAD)
HGVS:: NC_000001.11:g.205877742_205877743del, NC_000001.10:g.205846870_205846871del

Select item 14910196536.

rs1491019653 has merged into rs201189093 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 1:205877753 (GRCh38)
1:205846881 (GRCh37)
Canonical SPDI:: NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:205877742:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: LOC284581 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000001.11:g.205877753_205877757del, NC_000001.11:g.205877755_205877757del, NC_000001.11:g.205877756_205877757del, NC_000001.11:g.205877757del, NC_000001.11:g.205877757dup, NC_000001.11:g.205877756_205877757dup, NC_000001.11:g.205877755_205877757dup, NC_000001.11:g.205877752_205877757dup, NC_000001.10:g.205846881_205846885del, NC_000001.10:g.205846883_205846885del, NC_000001.10:g.205846884_205846885del, NC_000001.10:g.205846885del, NC_000001.10:g.205846885dup, NC_000001.10:g.205846884_205846885dup, NC_000001.10:g.205846883_205846885dup, NC_000001.10:g.205846880_205846885dup

Select item 14909740557.

rs1490974055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:205867409 (GRCh38)
1:205836537 (GRCh37)
Canonical SPDI:: NC_000001.11:205867408:T:A
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.205867409T>A, NC_000001.10:g.205836537T>A

Select item 14909022758.

rs1490902275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:205868288 (GRCh38)
1:205837416 (GRCh37)
Canonical SPDI:: NC_000001.11:205868287:T:G
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_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)
HGVS:: NC_000001.11:g.205868288T>G, NC_000001.10:g.205837416T>G

Select item 14908768989.

rs1490876898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205892439 (GRCh38)
1:205861567 (GRCh37)
Canonical SPDI:: NC_000001.11:205892438:C:T
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205892439C>T, NC_000001.10:g.205861567C>T

Select item 149081157310.

rs1490811573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205879156 (GRCh38)
1:205848284 (GRCh37)
Canonical SPDI:: NC_000001.11:205879155:T:C
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205879156T>C, NC_000001.10:g.205848284T>C

Select item 149078324811.

rs1490783248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:205894956 (GRCh38)
1:205864084 (GRCh37)
Canonical SPDI:: NC_000001.11:205894955:A:G
Gene:: LOC284581 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.205894956A>G, NC_000001.10:g.205864084A>G, NR_046097.1:n.1463A>G, NR_046098.1:n.1111A>G

Select item 149064620512.

rs1490646205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205880162 (GRCh38)
1:205849290 (GRCh37)
Canonical SPDI:: NC_000001.11:205880161:G:A
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.205880162G>A, NC_000001.10:g.205849290G>A

Select item 149059745113.

rs1490597451 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205895601 (GRCh38)
1:205864729 (GRCh37)
Canonical SPDI:: NC_000001.11:205895600:T:C
Gene:: LOC284581 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.205895601T>C, NC_000001.10:g.205864729T>C, NR_046097.1:n.2108T>C, NR_046098.1:n.1756T>C

Select item 149045260914.

rs1490452609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:205873354 (GRCh38)
1:205842482 (GRCh37)
Canonical SPDI:: NC_000001.11:205873353:A:G
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_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)
HGVS:: NC_000001.11:g.205873354A>G, NC_000001.10:g.205842482A>G

Select item 149038390815.

rs1490383908 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:205888288 (GRCh38)
1:205857416 (GRCh37)
Canonical SPDI:: NC_000001.11:205888287:GGG:GG
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000001.11:g.205888290del, NC_000001.10:g.205857418del

Select item 149032175716.

rs1490321757 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205878298 (GRCh38)
1:205847426 (GRCh37)
Canonical SPDI:: NC_000001.11:205878297:T:C
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205878298T>C, NC_000001.10:g.205847426T>C

Select item 149028985317.

rs1490289853 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:205872971 (GRCh38)
1:205842100 (GRCh37)
Canonical SPDI:: NC_000001.11:205872971:T:TT
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000001.11:g.205872972dup, NC_000001.10:g.205842100dup

Select item 149018327218.

rs1490183272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205865945 (GRCh38)
1:205835073 (GRCh37)
Canonical SPDI:: NC_000001.11:205865944:G:A
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.205865945G>A, NC_000001.10:g.205835073G>A

Select item 149015729819.

rs1490157298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205866943 (GRCh38)
1:205836071 (GRCh37)
Canonical SPDI:: NC_000001.11:205866942:T:C
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.205866943T>C, NC_000001.10:g.205836071T>C

Select item 149008789920.

rs1490087899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:205876105 (GRCh38)
1:205845233 (GRCh37)
Canonical SPDI:: NC_000001.11:205876104:A:G
Gene:: LOC284581 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.205876105A>G, NC_000001.10:g.205845233A>G

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