SNP Links for Gene (Select 100130298) - SNP

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Select item 14913494471.

rs1491349447 has merged into rs34496742 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 8:60968524 (GRCh38)
8:61881083 (GRCh37)
Canonical SPDI:: NC_000008.11:60968514:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:60968514:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:60968514:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:60968514:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:60968514:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:60968514:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:60968514:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.4357/2182 (1000Genomes)
HGVS:: NC_000008.11:g.60968524_60968530del, NC_000008.11:g.60968526_60968530del, NC_000008.11:g.60968528_60968530del, NC_000008.11:g.60968529_60968530del, NC_000008.11:g.60968530del, NC_000008.11:g.60968530dup, NC_000008.11:g.60968529_60968530dup, NC_000008.10:g.61881083_61881089del, NC_000008.10:g.61881085_61881089del, NC_000008.10:g.61881087_61881089del, NC_000008.10:g.61881088_61881089del, NC_000008.10:g.61881089del, NC_000008.10:g.61881089dup, NC_000008.10:g.61881088_61881089dup

Select item 14913176812.

rs1491317681 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:60968514 (GRCh38)
8:61881073 (GRCh37)
Canonical SPDI:: NC_000008.11:60968513:CA:
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.60968514_60968515del, NC_000008.10:g.61881073_61881074del

Select item 14897881773.

rs1489788177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:60966670 (GRCh38)
8:61879229 (GRCh37)
Canonical SPDI:: NC_000008.11:60966669:G:A
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000083/22 (TOPMED)
A=0.000142/2 (TOMMO)
A=0.001369/4 (KOREAN)
HGVS:: NC_000008.11:g.60966670G>A, NC_000008.10:g.61879229G>A

Select item 14893192354.

rs1489319235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:60967219 (GRCh38)
8:61879778 (GRCh37)
Canonical SPDI:: NC_000008.11:60967218:A:G
Gene:: CLVS1 (Varview), LOC100130298 (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_000008.11:g.60967219A>G, NC_000008.10:g.61879778A>G

Select item 14892579475.

rs1489257947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:60968229 (GRCh38)
8:61880788 (GRCh37)
Canonical SPDI:: NC_000008.11:60968228:G:T
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.60968229G>T, NC_000008.10:g.61880788G>T

Select item 14889380556.

rs1488938055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:60967787 (GRCh38)
8:61880346 (GRCh37)
Canonical SPDI:: NC_000008.11:60967786:T:A,NC_000008.11:60967786:T:C
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.60967787T>A, NC_000008.11:g.60967787T>C, NC_000008.10:g.61880346T>A, NC_000008.10:g.61880346T>C

Select item 14871328387.

rs1487132838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:60968816 (GRCh38)
8:61881375 (GRCh37)
Canonical SPDI:: NC_000008.11:60968815:C:T
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.60968816C>T, NC_000008.10:g.61881375C>T

Select item 14868945078.

rs1486894507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:60967599 (GRCh38)
8:61880158 (GRCh37)
Canonical SPDI:: NC_000008.11:60967598:C:A,NC_000008.11:60967598:C:G,NC_000008.11:60967598:C:T
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.60967599C>A, NC_000008.11:g.60967599C>G, NC_000008.11:g.60967599C>T, NC_000008.10:g.61880158C>A, NC_000008.10:g.61880158C>G, NC_000008.10:g.61880158C>T, NR_034003.1:n.150G>T, NR_034003.1:n.150G>C, NR_034003.1:n.150G>A

Select item 14859791479.

rs1485979147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:60968972 (GRCh38)
8:61881531 (GRCh37)
Canonical SPDI:: NC_000008.11:60968971:A:T
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.60968972A>T, NC_000008.10:g.61881531A>T

Select item 148565957810.

rs1485659578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:60968563 (GRCh38)
8:61881122 (GRCh37)
Canonical SPDI:: NC_000008.11:60968562:A:G
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.60968563A>G, NC_000008.10:g.61881122A>G

Select item 148441247611.

rs1484412476 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>- [Show Flanks]
Chromosome:: 8:60967766 (GRCh38)
8:61880325 (GRCh37)
Canonical SPDI:: NC_000008.11:60967764:TTTT:T
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.60967766_60967768del, NC_000008.10:g.61880325_61880327del

Select item 148239002212.

rs1482390022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:60969438 (GRCh38)
8:61881997 (GRCh37)
Canonical SPDI:: NC_000008.11:60969437:T:A
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,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_000008.11:g.60969438T>A, NC_000008.10:g.61881997T>A

Select item 148211234713.

rs1482112347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:60966495 (GRCh38)
8:61879054 (GRCh37)
Canonical SPDI:: NC_000008.11:60966494:T:C
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: genic_upstream_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_000008.11:g.60966495T>C, NC_000008.10:g.61879054T>C

Select item 148090756114.

rs1480907561 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:60967812 (GRCh38)
8:61880371 (GRCh37)
Canonical SPDI:: NC_000008.11:60967811:TTT:TT
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.60967814del, NC_000008.10:g.61880373del

Select item 148078134715.

rs1480781347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:60968505 (GRCh38)
8:61881064 (GRCh37)
Canonical SPDI:: NC_000008.11:60968504:A:G
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.60968505A>G, NC_000008.10:g.61881064A>G

Select item 147917176516.

rs1479171765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:60968829 (GRCh38)
8:61881388 (GRCh37)
Canonical SPDI:: NC_000008.11:60968828:C:T
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.60968829C>T, NC_000008.10:g.61881388C>T

Select item 147896228417.

rs1478962284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:60967331 (GRCh38)
8:61879890 (GRCh37)
Canonical SPDI:: NC_000008.11:60967330:G:A
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.60967331G>A, NC_000008.10:g.61879890G>A

Select item 147732903018.

rs1477329030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:60966747 (GRCh38)
8:61879306 (GRCh37)
Canonical SPDI:: NC_000008.11:60966746:G:A
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.60966747G>A, NC_000008.10:g.61879306G>A

Select item 147693927019.

rs1476939270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:60966481 (GRCh38)
8:61879040 (GRCh37)
Canonical SPDI:: NC_000008.11:60966480:C:T
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.60966481C>T, NC_000008.10:g.61879040C>T

Select item 147684456220.

rs1476844562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:60966222 (GRCh38)
8:61878781 (GRCh37)
Canonical SPDI:: NC_000008.11:60966221:C:A,NC_000008.11:60966221:C:T
Gene:: CLVS1 (Varview), LOC100130298 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.60966222C>A, NC_000008.11:g.60966222C>T, NC_000008.10:g.61878781C>A, NC_000008.10:g.61878781C>T, XM_024447079.2:c.-395C>A, XM_024447079.2:c.-395C>T, XM_024447079.1:c.-395C>A, XM_024447079.1:c.-395C>T, NR_034003.1:n.412G>T, NR_034003.1:n.412G>A

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