SNP Links for Gene (Select 84692) - SNP

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Items: 1 to 20 of 913

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Select item 14903183921.

rs1490318392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:107377905 (GRCh38)
3:107096752 (GRCh37)
Canonical SPDI:: NC_000003.12:107377904:G:A
Gene:: CCDC54 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.107377905G>A, NC_000003.11:g.107096752G>A, NM_032600.3:c.318G>A, NM_032600.2:c.318G>A

Select item 14901490952.

rs1490149095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:107376520 (GRCh38)
3:107095367 (GRCh37)
Canonical SPDI:: NC_000003.12:107376519:G:A
Gene:: CCDC54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.107376520G>A, NC_000003.11:g.107095367G>A

Select item 14900223633.

rs1490022363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:107377178 (GRCh38)
3:107096025 (GRCh37)
Canonical SPDI:: NC_000003.12:107377177:A:G
Gene:: CCDC54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.107377178A>G, NC_000003.11:g.107096025A>G

Select item 14899832614.

rs1489983261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:107376084 (GRCh38)
3:107094931 (GRCh37)
Canonical SPDI:: NC_000003.12:107376083:C:A,NC_000003.12:107376083:C:G
Gene:: CCDC54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000107/15 (GnomAD)
HGVS:: NC_000003.12:g.107376084C>A, NC_000003.12:g.107376084C>G, NC_000003.11:g.107094931C>A, NC_000003.11:g.107094931C>G

Select item 14876973075.

rs1487697307 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:107378367 (GRCh38)
3:107097215 (GRCh37)
Canonical SPDI:: NC_000003.12:107378367:TTTTT:TTTTTT
Gene:: CCDC54 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.107378372dup, NC_000003.11:g.107097219dup, NM_032600.3:c.785dup, NM_032600.2:c.785dup, NP_115989.1:p.Leu263fs

Select item 14864137396.

rs1486413739 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:107376326 (GRCh38)
3:107095173 (GRCh37)
Canonical SPDI:: NC_000003.12:107376323:TTTT:TT
Gene:: CCDC54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.107376326_107376327del, NC_000003.11:g.107095173_107095174del

Select item 14858659927.

rs1485865992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:107376220 (GRCh38)
3:107095067 (GRCh37)
Canonical SPDI:: NC_000003.12:107376219:A:C,NC_000003.12:107376219:A:G
Gene:: CCDC54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.107376220A>C, NC_000003.12:g.107376220A>G, NC_000003.11:g.107095067A>C, NC_000003.11:g.107095067A>G

Select item 14851739248.

rs1485173924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:107378734 (GRCh38)
3:107097581 (GRCh37)
Canonical SPDI:: NC_000003.12:107378733:C:T
Gene:: CCDC54 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.107378734C>T, NC_000003.11:g.107097581C>T

Select item 14851215869.

rs1485121586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:107376271 (GRCh38)
3:107095118 (GRCh37)
Canonical SPDI:: NC_000003.12:107376270:G:T
Gene:: CCDC54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.107376271G>T, NC_000003.11:g.107095118G>T

Select item 148426595710.

rs1484265957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:107377494 (GRCh38)
3:107096341 (GRCh37)
Canonical SPDI:: NC_000003.12:107377493:C:T
Gene:: CCDC54 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.107377494C>T, NC_000003.11:g.107096341C>T, NM_032600.3:c.-94C>T, NM_032600.2:c.-94C>T

Select item 148081540511.

rs1480815405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:107375674 (GRCh38)
3:107094521 (GRCh37)
Canonical SPDI:: NC_000003.12:107375673:C:T
Gene:: CCDC54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000003.12:g.107375674C>T, NC_000003.11:g.107094521C>T

Select item 147958980912.

rs1479589809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:107377599 (GRCh38)
3:107096446 (GRCh37)
Canonical SPDI:: NC_000003.12:107377598:T:C
Gene:: CCDC54 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.107377599T>C, NC_000003.11:g.107096446T>C, NM_032600.3:c.12T>C, NM_032600.2:c.12T>C

Select item 147857103013.

rs1478571030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:107378516 (GRCh38)
3:107097363 (GRCh37)
Canonical SPDI:: NC_000003.12:107378515:T:C
Gene:: CCDC54 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.107378516T>C, NC_000003.11:g.107097363T>C, NM_032600.3:c.929T>C, NM_032600.2:c.929T>C, NP_115989.1:p.Ile310Thr

Select item 147769372214.

rs1477693722 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:107378998 (GRCh38)
3:107097845 (GRCh37)
Canonical SPDI:: NC_000003.12:107378996:GAG:G
Gene:: CCDC54 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.107378998_107378999del, NC_000003.11:g.107097845_107097846del

Select item 147631758315.

rs1476317583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:107375787 (GRCh38)
3:107094634 (GRCh37)
Canonical SPDI:: NC_000003.12:107375786:T:C
Gene:: CCDC54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.107375787T>C, NC_000003.11:g.107094634T>C

Select item 147383164316.

rs1473831643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:107378324 (GRCh38)
3:107097171 (GRCh37)
Canonical SPDI:: NC_000003.12:107378323:G:C
Gene:: CCDC54 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.107378324G>C, NC_000003.11:g.107097171G>C, NM_032600.3:c.737G>C, NM_032600.2:c.737G>C, NP_115989.1:p.Ser246Thr

Select item 147379364117.

rs1473793641 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAC>- [Show Flanks]
Chromosome:: 3:107377950 (GRCh38)
3:107096797 (GRCh37)
Canonical SPDI:: NC_000003.12:107377947:ACAAC:AC
Gene:: CCDC54 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0.000214/3 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000049/13 (TOPMED)
HGVS:: NC_000003.12:g.107377950_107377952del, NC_000003.11:g.107096797_107096799del, NM_032600.3:c.363_365del, NM_032600.2:c.363_365del, NP_115989.1:p.Thr123del

Select item 147261807918.

rs1472618079 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:107377158 (GRCh38)
3:107096005 (GRCh37)
Canonical SPDI:: NC_000003.12:107377157:T:C
Gene:: CCDC54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.107377158T>C, NC_000003.11:g.107096005T>C

Select item 147068871319.

rs1470688713 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:107377413 (GRCh38)
3:107096260 (GRCh37)
Canonical SPDI:: NC_000003.12:107377412:A:G
Gene:: CCDC54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.107377413A>G, NC_000003.11:g.107096260A>G, NM_032600.2:c.-175A>G

Select item 146982414220.

rs1469824142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:107375648 (GRCh38)
3:107094495 (GRCh37)
Canonical SPDI:: NC_000003.12:107375647:G:C
Gene:: CCDC54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.107375648G>C, NC_000003.11:g.107094495G>C

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