SNP Links for Gene (Select 100846978) - SNP

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Select item 14915159041.

rs1491515904 has merged into rs139082541 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC [Show Flanks]
Chromosome:: 3:87098968 (GRCh38)
3:87148118 (GRCh37)
Canonical SPDI:: NC_000003.12:87098960:CCCCCCCCCC:CCCCCCC,NC_000003.12:87098960:CCCCCCCCCC:CCCCCCCC,NC_000003.12:87098960:CCCCCCCCCC:CCCCCCCCC,NC_000003.12:87098960:CCCCCCCCCC:CCCCCCCCCCC,NC_000003.12:87098960:CCCCCCCCCC:CCCCCCCCCCCC,NC_000003.12:87098960:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:87098960:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:87098960:CCCCCCCCCC:CCCCCCCCCCCCCCC
Gene:: LINC00506 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
C=0.08061/335 (Estonian)
C=0.25/2 (KOREAN)
HGVS:: NC_000003.12:g.87098968_87098970del, NC_000003.12:g.87098969_87098970del, NC_000003.12:g.87098970del, NC_000003.12:g.87098970dup, NC_000003.12:g.87098969_87098970dup, NC_000003.12:g.87098968_87098970dup, NC_000003.12:g.87098967_87098970dup, NC_000003.12:g.87098966_87098970dup, NC_000003.11:g.87148118_87148120del, NC_000003.11:g.87148119_87148120del, NC_000003.11:g.87148120del, NC_000003.11:g.87148120dup, NC_000003.11:g.87148119_87148120dup, NC_000003.11:g.87148118_87148120dup, NC_000003.11:g.87148117_87148120dup, NC_000003.11:g.87148116_87148120dup

Select item 14914935042.

rs1491493504 has merged into rs918196965 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT [Show Flanks]
Chromosome:: 3:87122887 (GRCh38)
3:87172037 (GRCh37)
Canonical SPDI:: NC_000003.12:87122879:TCTCTCTCTCT:TCTCTCT,NC_000003.12:87122879:TCTCTCTCTCT:TCTCTCTCT,NC_000003.12:87122879:TCTCTCTCTCT:TCTCTCTCTCTCT
Gene:: LINC00506 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
TC=0.00006/1 (TOMMO)
HGVS:: NC_000003.12:g.87122881CT[3], NC_000003.12:g.87122881CT[4], NC_000003.12:g.87122881CT[6], NC_000003.11:g.87172031CT[3], NC_000003.11:g.87172031CT[4], NC_000003.11:g.87172031CT[6]

Select item 14912419333.

rs1491241933 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:87111691 (GRCh38)
3:87160841 (GRCh37)
Canonical SPDI:: NC_000003.12:87111687:TATAT:TAT
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
-=0.00812/52 (1000Genomes)
-=0.008286/1121 (GnomAD)
HGVS:: NC_000003.12:g.87111689AT[1], NC_000003.11:g.87160839AT[1]

Select item 14910382144.

rs1491038214 has merged into rs79941666 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 3:87111213 (GRCh38)
3:87160363 (GRCh37)
Canonical SPDI:: NC_000003.12:87111206:TTTTTTTTTTTT:TTTTTT,NC_000003.12:87111206:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:87111206:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:87111206:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:87111206:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0.00037/5 (ALFA)
T=0.02833/17 (NorthernSweden)
-=0.08747/398 (1000Genomes)
T=0.1/4 (GENOME_DK)
HGVS:: NC_000003.12:g.87111213_87111218del, NC_000003.12:g.87111217_87111218del, NC_000003.12:g.87111218del, NC_000003.12:g.87111218dup, NC_000003.12:g.87111217_87111218dup, NC_000003.11:g.87160363_87160368del, NC_000003.11:g.87160367_87160368del, NC_000003.11:g.87160368del, NC_000003.11:g.87160368dup, NC_000003.11:g.87160367_87160368dup

Select item 14910237295.

rs1491023729 has merged into rs35570906 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:87129821 (GRCh38)
3:87178971 (GRCh37)
Canonical SPDI:: NC_000003.12:87129806:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:87129806:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:87129806:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:87129806:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:87129806:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:87129806:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:87129806:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LINC00506 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4744/2376 (1000Genomes)
HGVS:: NC_000003.12:g.87129821_87129822del, NC_000003.12:g.87129822del, NC_000003.12:g.87129822dup, NC_000003.12:g.87129821_87129822dup, NC_000003.12:g.87129820_87129822dup, NC_000003.12:g.87129814_87129822dup, NC_000003.12:g.87129809_87129822dup, NC_000003.11:g.87178971_87178972del, NC_000003.11:g.87178972del, NC_000003.11:g.87178972dup, NC_000003.11:g.87178971_87178972dup, NC_000003.11:g.87178970_87178972dup, NC_000003.11:g.87178964_87178972dup, NC_000003.11:g.87178959_87178972dup

Select item 14909812626.

rs1490981262 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATT [Show Flanks]
Chromosome:: 3:87106734 (GRCh38)
3:87155885 (GRCh37)
Canonical SPDI:: NC_000003.12:87106734:TGATT:TGATTGATT
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGATTGATT=0.000071/1 (ALFA)
TGAT=0.000015/4 (TOPMED)
TGAT=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.87106736_87106739dup, NC_000003.11:g.87155886_87155889dup

Select item 14908472527.

rs1490847252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:87126693 (GRCh38)
3:87175843 (GRCh37)
Canonical SPDI:: NC_000003.12:87126692:T:A,NC_000003.12:87126692:T:C
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000264/4 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000893/4 (Estonian)
HGVS:: NC_000003.12:g.87126693T>A, NC_000003.12:g.87126693T>C, NC_000003.11:g.87175843T>A, NC_000003.11:g.87175843T>C

Select item 14908017198.

rs1490801719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:87136049 (GRCh38)
3:87185199 (GRCh37)
Canonical SPDI:: NC_000003.12:87136048:T:C
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000057/15 (TOPMED)
HGVS:: NC_000003.12:g.87136049T>C, NC_000003.11:g.87185199T>C

Select item 14907800689.

rs1490780068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:87149605 (GRCh38)
3:87198755 (GRCh37)
Canonical SPDI:: NC_000003.12:87149604:T:C
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.87149605T>C, NC_000003.11:g.87198755T>C

Select item 149075160010.

rs1490751600 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 3:87143016 (GRCh38)
3:87192166 (GRCh37)
Canonical SPDI:: NC_000003.12:87143015:GGG:GG,NC_000003.12:87143015:GGG:GGGG
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.87143018del, NC_000003.12:g.87143018dup, NC_000003.11:g.87192168del, NC_000003.11:g.87192168dup

Select item 149073725211.

rs1490737252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:87120488 (GRCh38)
3:87169638 (GRCh37)
Canonical SPDI:: NC_000003.12:87120487:T:C
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.87120488T>C, NC_000003.11:g.87169638T>C

Select item 149072336612.

rs1490723366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:87128022 (GRCh38)
3:87177172 (GRCh37)
Canonical SPDI:: NC_000003.12:87128021:G:C
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.001667/1 (NorthernSweden)
HGVS:: NC_000003.12:g.87128022G>C, NC_000003.11:g.87177172G>C

Select item 149058826313.

rs1490588263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:87119911 (GRCh38)
3:87169061 (GRCh37)
Canonical SPDI:: NC_000003.12:87119910:A:G
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000003.12:g.87119911A>G, NC_000003.11:g.87169061A>G

Select item 149053541714.

rs1490535417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:87150538 (GRCh38)
3:87199688 (GRCh37)
Canonical SPDI:: NC_000003.12:87150537:C:G,NC_000003.12:87150537:C:T
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.87150538C>G, NC_000003.12:g.87150538C>T, NC_000003.11:g.87199688C>G, NC_000003.11:g.87199688C>T

Select item 149051096615.

rs1490510966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:87156955 (GRCh38)
3:87206105 (GRCh37)
Canonical SPDI:: NC_000003.12:87156954:T:A
Gene:: LINC00506 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.87156955T>A, NC_000003.11:g.87206105T>A, NR_104153.1:n.554T>A

Select item 149050662016.

rs1490506620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:87093048 (GRCh38)
3:87142198 (GRCh37)
Canonical SPDI:: NC_000003.12:87093047:C:T
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.87093048C>T, NC_000003.11:g.87142198C>T

Select item 149036586917.

rs1490365869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:87143684 (GRCh38)
3:87192834 (GRCh37)
Canonical SPDI:: NC_000003.12:87143683:T:C
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000003.12:g.87143684T>C, NC_000003.11:g.87192834T>C

Select item 149035388818.

rs1490353888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:87128000 (GRCh38)
3:87177150 (GRCh37)
Canonical SPDI:: NC_000003.12:87127999:A:G,NC_000003.12:87127999:A:T
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.87128000A>G, NC_000003.12:g.87128000A>T, NC_000003.11:g.87177150A>G, NC_000003.11:g.87177150A>T

Select item 149034424619.

rs1490344246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:87148270 (GRCh38)
3:87197420 (GRCh37)
Canonical SPDI:: NC_000003.12:87148269:T:C
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.87148270T>C, NC_000003.11:g.87197420T>C

Select item 149028095820.

rs1490280958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:87094271 (GRCh38)
3:87143421 (GRCh37)
Canonical SPDI:: NC_000003.12:87094270:T:C,NC_000003.12:87094270:T:G
Gene:: LINC00506 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.87094271T>C, NC_000003.12:g.87094271T>G, NC_000003.11:g.87143421T>C, NC_000003.11:g.87143421T>G

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