SNP Links for Gene (Select 168448) - SNP

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Select item 14913592011.

rs1491359201 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:48927780 (GRCh38)
7:48967376 (GRCh37)
Canonical SPDI:: NC_000007.14:48927779:AG:
Gene:: CDC14C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.48927780_48927781del, NC_000007.13:g.48967376_48967377del

Select item 14908536942.

rs1490853694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:48926602 (GRCh38)
7:48966198 (GRCh37)
Canonical SPDI:: NC_000007.14:48926601:C:T
Gene:: CDC14C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.48926602C>T, NC_000007.13:g.48966198C>T, NM_152627.3:c.*586C>T, NM_152627.2:c.*586C>T, NM_152627.1:c.*586C>T, NR_003595.1:n.2042C>T

Select item 14907673063.

rs1490767306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:48925938 (GRCh38)
7:48965534 (GRCh37)
Canonical SPDI:: NC_000007.14:48925937:T:C
Gene:: CDC14C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.48925938T>C, NC_000007.13:g.48965534T>C, NM_152627.3:c.1266T>C, NM_152627.2:c.1266T>C, NM_152627.1:c.1266T>C, NR_003595.1:n.1378T>C

Select item 14904889294.

rs1490488929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:48925865 (GRCh38)
7:48965461 (GRCh37)
Canonical SPDI:: NC_000007.14:48925864:G:A
Gene:: CDC14C (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.48925865G>A, NC_000007.13:g.48965461G>A, NM_152627.3:c.1193G>A, NM_152627.2:c.1193G>A, NM_152627.1:c.1193G>A, NR_003595.1:n.1305G>A, NP_689840.2:p.Gly398Asp

Select item 14904305485.

rs1490430548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:48927166 (GRCh38)
7:48966762 (GRCh37)
Canonical SPDI:: NC_000007.14:48927165:A:T
Gene:: CDC14C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.48927166A>T, NC_000007.13:g.48966762A>T, NM_152627.3:c.*1150A>T, NM_152627.2:c.*1150A>T, NM_152627.1:c.*1150A>T, NR_003595.1:n.2606A>T

Select item 14904177966.

rs1490417796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:48926564 (GRCh38)
7:48966160 (GRCh37)
Canonical SPDI:: NC_000007.14:48926563:G:A
Gene:: CDC14C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000045/12 (TOPMED)
A=0.000468/3 (1000Genomes)
HGVS:: NC_000007.14:g.48926564G>A, NC_000007.13:g.48966160G>A, NM_152627.3:c.*548G>A, NM_152627.2:c.*548G>A, NM_152627.1:c.*548G>A, NR_003595.1:n.2004G>A

Select item 14903916777.

rs1490391677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:48927402 (GRCh38)
7:48966998 (GRCh37)
Canonical SPDI:: NC_000007.14:48927401:C:T
Gene:: CDC14C (Varview)
Functional Consequence:: 3_prime_UTR_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_000007.14:g.48927402C>T, NC_000007.13:g.48966998C>T, NM_152627.3:c.*1386C>T, NM_152627.2:c.*1386C>T, NM_152627.1:c.*1386C>T, NR_003595.1:n.2842C>T

Select item 14894614398.

rs1489461439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:48927626 (GRCh38)
7:48967222 (GRCh37)
Canonical SPDI:: NC_000007.14:48927625:A:C
Gene:: CDC14C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000007.14:g.48927626A>C, NC_000007.13:g.48967222A>C

Select item 14885995339.

rs1488599533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:48922803 (GRCh38)
7:48962399 (GRCh37)
Canonical SPDI:: NC_000007.14:48922802:T:G
Gene:: CDC14C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.48922803T>G, NC_000007.13:g.48962399T>G

Select item 148843507310.

rs1488435073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:48923194 (GRCh38)
7:48962790 (GRCh37)
Canonical SPDI:: NC_000007.14:48923193:C:G
Gene:: CDC14C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.001486/25 (TOMMO)
HGVS:: NC_000007.14:g.48923194C>G, NC_000007.13:g.48962790C>G

Select item 148808490211.

rs1488084902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:48926557 (GRCh38)
7:48966153 (GRCh37)
Canonical SPDI:: NC_000007.14:48926556:G:A
Gene:: CDC14C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.48926557G>A, NC_000007.13:g.48966153G>A, NM_152627.3:c.*541G>A, NM_152627.2:c.*541G>A, NM_152627.1:c.*541G>A, NR_003595.1:n.1997G>A

Select item 148791996312.

rs1487919963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:48924275 (GRCh38)
7:48963871 (GRCh37)
Canonical SPDI:: NC_000007.14:48924274:G:C
Gene:: CDC14C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.48924275G>C, NC_000007.13:g.48963871G>C

Select item 148696990413.

rs1486969904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:48923841 (GRCh38)
7:48963437 (GRCh37)
Canonical SPDI:: NC_000007.14:48923840:C:T
Gene:: CDC14C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.48923841C>T, NC_000007.13:g.48963437C>T

Select item 148618245214.

rs1486182452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:48925999 (GRCh38)
7:48965595 (GRCh37)
Canonical SPDI:: NC_000007.14:48925998:C:T
Gene:: CDC14C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.48925999C>T, NC_000007.13:g.48965595C>T, NM_152627.3:c.1327C>T, NM_152627.2:c.1327C>T, NM_152627.1:c.1327C>T, NR_003595.1:n.1439C>T, NP_689840.2:p.Pro443Ser

Select item 148520581715.

rs1485205817 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:48925044 (GRCh38)
7:48964640 (GRCh37)
Canonical SPDI:: NC_000007.14:48925041:ATAT:AT
Gene:: CDC14C (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.48925042AT[1], NC_000007.13:g.48964638AT[1], NM_152627.3:c.372_373del, NM_152627.2:c.372_373del, NM_152627.1:c.372_373del, NR_003595.1:n.482AT[1], NP_689840.2:p.Leu125fs

Select item 148477406116.

rs1484774061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:48924782 (GRCh38)
7:48964378 (GRCh37)
Canonical SPDI:: NC_000007.14:48924781:G:T
Gene:: CDC14C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.48924782G>T, NC_000007.13:g.48964378G>T, NM_152627.3:c.110G>T, NM_152627.2:c.110G>T, NM_152627.1:c.110G>T, NR_003595.1:n.222G>T, NP_689840.2:p.Ser37Ile

Select item 148466268017.

rs1484662680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:48924206 (GRCh38)
7:48963802 (GRCh37)
Canonical SPDI:: NC_000007.14:48924205:C:G
Gene:: CDC14C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.48924206C>G, NC_000007.13:g.48963802C>G

Select item 148441111018.

rs1484411110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:48924826 (GRCh38)
7:48964422 (GRCh37)
Canonical SPDI:: NC_000007.14:48924825:T:C
Gene:: CDC14C (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.48924826T>C, NC_000007.13:g.48964422T>C, NM_152627.3:c.154T>C, NM_152627.2:c.154T>C, NM_152627.1:c.154T>C, NR_003595.1:n.266T>C, NP_689840.2:p.Tyr52His

Select item 148297221219.

rs1482972212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:48926065 (GRCh38)
7:48965661 (GRCh37)
Canonical SPDI:: NC_000007.14:48926064:C:G
Gene:: CDC14C (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.48926065C>G, NC_000007.13:g.48965661C>G, NM_152627.3:c.*49C>G, NM_152627.2:c.*49C>G, NM_152627.1:c.*49C>G, NR_003595.1:n.1505C>G

Select item 148295119120.

rs1482951191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:48924030 (GRCh38)
7:48963626 (GRCh37)
Canonical SPDI:: NC_000007.14:48924029:T:C
Gene:: CDC14C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.48924030T>C, NC_000007.13:g.48963626T>C

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