SNP Links for Gene (Select 100505869) - SNP

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Select item 14913531421.

rs1491353142 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:104352521 (GRCh38)
10:106112279 (GRCh37)
Canonical SPDI:: NC_000010.11:104352516:AGAGAG:AGAG
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.104352517AG[2], NC_000010.10:g.106112275AG[2]

Select item 14880945072.

rs1488094507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:104352385 (GRCh38)
10:106112143 (GRCh37)
Canonical SPDI:: NC_000010.11:104352384:C:T
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.104352385C>T, NC_000010.10:g.106112143C>T

Select item 14859912923.

rs1485991292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:104354886 (GRCh38)
10:106114644 (GRCh37)
Canonical SPDI:: NC_000010.11:104354885:C:T
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000010.11:g.104354886C>T, NC_000010.10:g.106114644C>T

Select item 14840979684.

rs1484097968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:104353512 (GRCh38)
10:106113270 (GRCh37)
Canonical SPDI:: NC_000010.11:104353511:C:T
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.104353512C>T, NC_000010.10:g.106113270C>T, NR_108036.1:n.64G>A

Select item 14838154395.

rs1483815439 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:104355072 (GRCh38)
10:106114831 (GRCh37)
Canonical SPDI:: NC_000010.11:104355072:CC:CCC
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.104355074dup, NC_000010.10:g.106114832dup

Select item 14836390196.

rs1483639019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:104354028 (GRCh38)
10:106113786 (GRCh37)
Canonical SPDI:: NC_000010.11:104354027:C:T
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.104354028C>T, NC_000010.10:g.106113786C>T

Select item 14824653737.

rs1482465373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:104352881 (GRCh38)
10:106112639 (GRCh37)
Canonical SPDI:: NC_000010.11:104352880:A:G
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.104352881A>G, NC_000010.10:g.106112639A>G

Select item 14820802248.

rs1482080224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:104352697 (GRCh38)
10:106112455 (GRCh37)
Canonical SPDI:: NC_000010.11:104352696:T:A
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.104352697T>A, NC_000010.10:g.106112455T>A

Select item 14804628709.

rs1480462870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:104351802 (GRCh38)
10:106111560 (GRCh37)
Canonical SPDI:: NC_000010.11:104351801:A:G
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000010.11:g.104351802A>G, NC_000010.10:g.106111560A>G, NR_108036.1:n.584T>C

Select item 148013316010.

rs1480133160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:104351206 (GRCh38)
10:106110964 (GRCh37)
Canonical SPDI:: NC_000010.11:104351205:A:G
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_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_000010.11:g.104351206A>G, NC_000010.10:g.106110964A>G

Select item 147959171611.

rs1479591716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:104353624 (GRCh38)
10:106113382 (GRCh37)
Canonical SPDI:: NC_000010.11:104353623:C:T
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_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_000010.11:g.104353624C>T, NC_000010.10:g.106113382C>T

Select item 147809519412.

rs1478095194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:104353163 (GRCh38)
10:106112921 (GRCh37)
Canonical SPDI:: NC_000010.11:104353162:A:G
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_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_000010.11:g.104353163A>G, NC_000010.10:g.106112921A>G, NR_108036.1:n.413T>C

Select item 147730336813.

rs1477303368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:104354298 (GRCh38)
10:106114056 (GRCh37)
Canonical SPDI:: NC_000010.11:104354297:C:T
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.104354298C>T, NC_000010.10:g.106114056C>T

Select item 147576985314.

rs1475769853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:104352381 (GRCh38)
10:106112139 (GRCh37)
Canonical SPDI:: NC_000010.11:104352380:C:A
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.104352381C>A, NC_000010.10:g.106112139C>A

Select item 147565904015.

rs1475659040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:104354901 (GRCh38)
10:106114659 (GRCh37)
Canonical SPDI:: NC_000010.11:104354900:C:A,NC_000010.11:104354900:C:G,NC_000010.11:104354900:C:T
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
G=0.000223/1 (Estonian)
G=0.000342/1 (KOREAN)
HGVS:: NC_000010.11:g.104354901C>A, NC_000010.11:g.104354901C>G, NC_000010.11:g.104354901C>T, NC_000010.10:g.106114659C>A, NC_000010.10:g.106114659C>G, NC_000010.10:g.106114659C>T

Select item 147518080516.

rs1475180805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:104354440 (GRCh38)
10:106114198 (GRCh37)
Canonical SPDI:: NC_000010.11:104354439:C:T
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.104354440C>T, NC_000010.10:g.106114198C>T

Select item 147402941717.

rs1474029417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:104354009 (GRCh38)
10:106113767 (GRCh37)
Canonical SPDI:: NC_000010.11:104354008:T:C
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.104354009T>C, NC_000010.10:g.106113767T>C

Select item 147375017618.

rs1473750176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:104350980 (GRCh38)
10:106110738 (GRCh37)
Canonical SPDI:: NC_000010.11:104350979:C:G,NC_000010.11:104350979:C:T
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.104350980C>G, NC_000010.11:g.104350980C>T, NC_000010.10:g.106110738C>G, NC_000010.10:g.106110738C>T

Select item 147215110119.

rs1472151101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:104351795 (GRCh38)
10:106111553 (GRCh37)
Canonical SPDI:: NC_000010.11:104351794:T:C
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.104351795T>C, NC_000010.10:g.106111553T>C, NR_108036.1:n.591A>G

Select item 147196957920.

rs1471969579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:104353020 (GRCh38)
10:106112778 (GRCh37)
Canonical SPDI:: NC_000010.11:104353019:T:C
Gene:: CFAP58 (Varview), CFAP58-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.104353020T>C, NC_000010.10:g.106112778T>C

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