CDC6 - SNP - NCBI

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Select item 137061.

rs13706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:40300899 (GRCh38)
17:38457151 (GRCh37)
Canonical SPDI:: NC_000017.11:40300898:G:A,NC_000017.11:40300898:G:C,NC_000017.11:40300898:G:T
Gene:: CDC6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.13063/47504 (ALFA)
A=0.055556/2 (PRJEB36033)
A=0.075/3 (GENOME_DK)
A=0.078795/353 (Estonian)
A=0.097378/52 (MGP)
A=0.097896/363 (TWINSUK)
A=0.106642/411 (ALSPAC)
A=0.110124/124 (Daghestan)
A=0.121242/121 (GoNL)
A=0.13/78 (NorthernSweden)
A=0.134868/41 (FINRISK)
A=0.186901/117 (Chileans)
A=0.212963/46 (Qatari)
A=0.224964/31503 (GnomAD)
A=0.227895/2964 (GoESP)
A=0.228887/477 (HGDP_Stanford)
A=0.235766/62405 (TOPMED)
A=0.285759/1431 (1000Genomes)
A=0.298701/184 (Vietnamese)
A=0.309197/585 (HapMap)
A=0.323232/256 (PRJEB37584)
A=0.32557/25623 (PAGE_STUDY)
G=0.365741/79 (SGDP_PRJ)
A=0.424411/7113 (TOMMO)
A=0.431223/790 (Korea1K)
A=0.43413/1272 (KOREAN)
G=0.5/3 (Siberian)
HGVS:: NC_000017.11:g.40300899G>A, NC_000017.11:g.40300899G>C, NC_000017.11:g.40300899G>T, NC_000017.10:g.38457151G>A, NC_000017.10:g.38457151G>C, NC_000017.10:g.38457151G>T, NG_028240.2:g.18021G>A, NG_028240.2:g.18021G>C, NG_028240.2:g.18021G>T, NM_001254.4:c.1321G>A, NM_001254.4:c.1321G>C, NM_001254.4:c.1321G>T, NM_001254.3:c.1321G>A, NM_001254.3:c.1321G>C, NM_001254.3:c.1321G>T, XM_011525541.3:c.1441G>A, XM_011525541.3:c.1441G>C, XM_011525541.3:c.1441G>T, XM_011525541.2:c.1441G>A, XM_011525541.2:c.1441G>C, XM_011525541.2:c.1441G>T, XM_011525541.1:c.1441G>A, XM_011525541.1:c.1441G>C, XM_011525541.1:c.1441G>T, XM_011525542.2:c.1441G>A, XM_011525542.2:c.1441G>C, XM_011525542.2:c.1441G>T, XM_011525542.1:c.1441G>A, XM_011525542.1:c.1441G>C, XM_011525542.1:c.1441G>T, XM_047437207.1:c.1321G>A, XM_047437207.1:c.1321G>C, XM_047437207.1:c.1321G>T, NP_001245.1:p.Val441Ile, NP_001245.1:p.Val441Leu, NP_001245.1:p.Val441Phe, XP_011523843.1:p.Val481Ile, XP_011523843.1:p.Val481Leu, XP_011523843.1:p.Val481Phe, XP_011523844.1:p.Val481Ile, XP_011523844.1:p.Val481Leu, XP_011523844.1:p.Val481Phe, XP_047293163.1:p.Val441Ile, XP_047293163.1:p.Val441Leu, XP_047293163.1:p.Val441Phe

PubMed LitVar

Select item 11301992.

rs1130199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40291317 (GRCh38)
17:38447569 (GRCh37)
Canonical SPDI:: NC_000017.11:40291316:T:C
Gene:: CDC6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.024488/4020 (ALFA)
C=0.000539/2 (TWINSUK)
C=0.001038/4 (ALSPAC)
C=0.004792/3 (Chileans)
C=0.005618/3 (MGP)
C=0.025108/6307 (GnomAD_exomes)
C=0.030857/3740 (ExAC)
C=0.064815/14 (Qatari)
C=0.105158/14743 (GnomAD)
C=0.110102/29143 (TOPMED)
C=0.111333/1448 (GoESP)
C=0.118207/592 (1000Genomes)
C=0.269/269 (HapMap)
T=0.3/15 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40291317T>C, NC_000017.10:g.38447569T>C, NG_028240.2:g.8439T>C, NM_001254.4:c.438T>C, NM_001254.3:c.438T>C, XM_011525541.3:c.438T>C, XM_011525541.2:c.438T>C, XM_011525541.1:c.438T>C, XM_011525542.2:c.438T>C, XM_011525542.1:c.438T>C, XM_047437207.1:c.438T>C

PubMed LitVar

Select item 41349943.

rs4134994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:40287379 (GRCh38)
17:38443631 (GRCh37)
Canonical SPDI:: NC_000017.11:40287378:A:G,NC_000017.11:40287378:A:T
Gene:: CDC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.126975/4324 (ALFA)
G=0.092634/415 (Estonian)
G=0.1/4 (GENOME_DK)
G=0.122438/454 (TWINSUK)
G=0.132265/132 (GoNL)
G=0.13233/510 (ALSPAC)
G=0.155/93 (NorthernSweden)
G=0.226852/49 (Qatari)
G=0.245296/34336 (GnomAD)
G=0.254422/67343 (TOPMED)
G=0.275701/59 (Vietnamese)
G=0.293254/1469 (1000Genomes)
A=0.373874/83 (SGDP_PRJ)
G=0.401373/6727 (TOMMO)
G=0.429585/787 (Korea1K)
G=0.431058/1263 (KOREAN)
A=0.5/3 (Siberian)
HGVS:: NC_000017.11:g.40287379A>G, NC_000017.11:g.40287379A>T, NC_000017.10:g.38443631A>G, NC_000017.10:g.38443631A>T, NG_028240.2:g.4501A>G, NG_028240.2:g.4501A>T

PubMed

Select item 41350104.

rs4135010 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40293507 (GRCh38)
17:38449759 (GRCh37)
Canonical SPDI:: NC_000017.11:40293506:A:G
Gene:: CDC6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance,likely-benign,conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.002737/318 (ALFA)
G=0.000468/2 (1000Genomes)
G=0.000483/38 (PAGE_STUDY)
G=0.000893/4 (Estonian)
G=0.001591/400 (GnomAD_exomes)
G=0.001613/427 (TOPMED)
G=0.001667/1 (NorthernSweden)
G=0.001789/217 (ExAC)
G=0.001873/1 (MGP)
G=0.001919/269 (GnomAD)
G=0.002307/30 (GoESP)
G=0.003145/1 (HapMap)
G=0.003289/1 (FINRISK)
G=0.004045/15 (TWINSUK)
G=0.004411/17 (ALSPAC)
G=0.008016/8 (GoNL)
HGVS:: NC_000017.11:g.40293507A>G, NC_000017.10:g.38449759A>G, NG_028240.2:g.10629A>G, NM_001254.4:c.712A>G, NM_001254.3:c.712A>G, XM_011525541.3:c.712A>G, XM_011525541.2:c.712A>G, XM_011525541.1:c.712A>G, XM_011525542.2:c.712A>G, XM_011525542.1:c.712A>G, XM_047437207.1:c.712A>G, NP_001245.1:p.Thr238Ala, XP_011523843.1:p.Thr238Ala, XP_011523844.1:p.Thr238Ala, XP_047293163.1:p.Thr238Ala

Select item 41350115.

rs4135011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40293647 (GRCh38)
17:38449899 (GRCh37)
Canonical SPDI:: NC_000017.11:40293646:C:T
Gene:: CDC6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003459/86 (ALFA)
T=0./0 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.001357/341 (GnomAD_exomes)
T=0.001627/197 (ExAC)
T=0.001873/1 (MGP)
T=0.002655/13 (1000Genomes)
T=0.005556/5 (HapMap)
T=0.005918/830 (GnomAD)
T=0.006404/1695 (TOPMED)
T=0.006766/88 (GoESP)
T=0.009259/2 (Qatari)
HGVS:: NC_000017.11:g.40293647C>T, NC_000017.10:g.38449899C>T, NG_028240.2:g.10769C>T

Select item 41350126.

rs4135012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40293996 (GRCh38)
17:38450248 (GRCh37)
Canonical SPDI:: NC_000017.11:40293995:G:A
Gene:: CDC6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.019063/5774 (ALFA)
A=0.000342/1 (KOREAN)
A=0.001263/1 (PRJEB37584)
A=0.005153/26 (1000Genomes)
A=0.007522/592 (PAGE_STUDY)
A=0.009259/2 (Qatari)
A=0.009683/11 (Daghestan)
A=0.013063/1586 (ExAC)
A=0.013109/7 (MGP)
A=0.013803/3471 (GnomAD_exomes)
A=0.013839/62 (Estonian)
A=0.013877/3673 (TOPMED)
A=0.015608/203 (GoESP)
A=0.015665/2197 (GnomAD)
A=0.018349/24 (HapMap)
A=0.019737/6 (FINRISK)
A=0.023333/14 (NorthernSweden)
A=0.024542/91 (TWINSUK)
A=0.024909/96 (ALSPAC)
A=0.025/1 (GENOME_DK)
A=0.02505/25 (GoNL)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40293996G>A, NC_000017.10:g.38450248G>A, NG_028240.2:g.11118G>A, NM_001254.4:c.883G>A, NM_001254.3:c.883G>A, XM_011525541.3:c.883G>A, XM_011525541.2:c.883G>A, XM_011525541.1:c.883G>A, XM_011525542.2:c.883G>A, XM_011525542.1:c.883G>A, XM_047437207.1:c.883G>A, NP_001245.1:p.Asp295Asn, XP_011523843.1:p.Asp295Asn, XP_011523844.1:p.Asp295Asn, XP_047293163.1:p.Asp295Asn

LitVar

Select item 41350137.

rs4135013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:40294009 (GRCh38)
17:38450261 (GRCh37)
Canonical SPDI:: NC_000017.11:40294008:C:A,NC_000017.11:40294008:C:T
Gene:: CDC6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000545/112 (ALFA)
T=0.000446/2 (Estonian)
T=0.000495/8 (TOMMO)
T=0.001092/2 (Korea1K)
T=0.001777/447 (GnomAD_exomes)
T=0.001873/1 (MGP)
T=0.002084/253 (ExAC)
T=0.004449/13 (KOREAN)
T=0.00463/1 (Qatari)
T=0.005843/76 (GoESP)
T=0.005906/828 (GnomAD)
T=0.006715/34 (1000Genomes)
T=0.008857/697 (PAGE_STUDY)
T=0.016631/31 (HapMap)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40294009C>A, NC_000017.11:g.40294009C>T, NC_000017.10:g.38450261C>A, NC_000017.10:g.38450261C>T, NG_028240.2:g.11131C>A, NG_028240.2:g.11131C>T, NM_001254.4:c.896C>A, NM_001254.4:c.896C>T, NM_001254.3:c.896C>A, NM_001254.3:c.896C>T, XM_011525541.3:c.896C>A, XM_011525541.3:c.896C>T, XM_011525541.2:c.896C>A, XM_011525541.2:c.896C>T, XM_011525541.1:c.896C>A, XM_011525541.1:c.896C>T, XM_011525542.2:c.896C>A, XM_011525542.2:c.896C>T, XM_011525542.1:c.896C>A, XM_011525542.1:c.896C>T, XM_047437207.1:c.896C>A, XM_047437207.1:c.896C>T, NP_001245.1:p.Thr299Lys, NP_001245.1:p.Thr299Met, XP_011523843.1:p.Thr299Lys, XP_011523843.1:p.Thr299Met, XP_011523844.1:p.Thr299Lys, XP_011523844.1:p.Thr299Met, XP_047293163.1:p.Thr299Lys, XP_047293163.1:p.Thr299Met

Select item 41350148.

rs4135014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:40294536 (GRCh38)
17:38450788 (GRCh37)
Canonical SPDI:: NC_000017.11:40294535:T:A
Gene:: CDC6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.009698/227 (ALFA)
A=0./0 (TWINSUK)
A=0.000259/1 (ALSPAC)
A=0.003745/2 (MGP)
A=0.00533/1333 (GnomAD_exomes)
A=0.006641/804 (ExAC)
A=0.018519/4 (Qatari)
A=0.021412/3003 (GnomAD)
A=0.022785/6031 (TOPMED)
A=0.023528/306 (GoESP)
A=0.025141/126 (1000Genomes)
A=0.039634/13 (HapMap)
T=0.5/6 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40294536T>A, NC_000017.10:g.38450788T>A, NG_028240.2:g.11658T>A

Select item 41350169.

rs4135016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:40295405 (GRCh38)
17:38451657 (GRCh37)
Canonical SPDI:: NC_000017.11:40295404:G:A,NC_000017.11:40295404:G:T
Gene:: CDC6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00018/4 (ALFA)
A=0.000052/13 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
A=0.000074/9 (ExAC)
A=0.000154/2 (GoESP)
A=0.000394/31 (PAGE_STUDY)
A=0.000625/3 (1000Genomes)
A=0.004298/3 (HapMap)
HGVS:: NC_000017.11:g.40295405G>A, NC_000017.11:g.40295405G>T, NC_000017.10:g.38451657G>A, NC_000017.10:g.38451657G>T, NG_028240.2:g.12527G>A, NG_028240.2:g.12527G>T, NM_001254.4:c.1133G>A, NM_001254.4:c.1133G>T, NM_001254.3:c.1133G>A, NM_001254.3:c.1133G>T, XM_011525541.3:c.1133G>A, XM_011525541.3:c.1133G>T, XM_011525541.2:c.1133G>A, XM_011525541.2:c.1133G>T, XM_011525541.1:c.1133G>A, XM_011525541.1:c.1133G>T, XM_011525542.2:c.1133G>A, XM_011525542.2:c.1133G>T, XM_011525542.1:c.1133G>A, XM_011525542.1:c.1133G>T, XM_047437207.1:c.1133G>A, XM_047437207.1:c.1133G>T, NP_001245.1:p.Arg378His, NP_001245.1:p.Arg378Leu, XP_011523843.1:p.Arg378His, XP_011523843.1:p.Arg378Leu, XP_011523844.1:p.Arg378His, XP_011523844.1:p.Arg378Leu, XP_047293163.1:p.Arg378His, XP_047293163.1:p.Arg378Leu

Select item 413503110.

rs4135031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40301527 (GRCh38)
17:38457779 (GRCh37)
Canonical SPDI:: NC_000017.11:40301526:A:G
Gene:: CDC6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000483/12 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000189/50 (TOPMED)
G=0.003408/857 (GnomAD_exomes)
G=0.003619/439 (ExAC)
G=0.007495/38 (1000Genomes)
G=0.028409/5 (HapMap)
A=0.5/5 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40301527A>G, NC_000017.10:g.38457779A>G, NG_028240.2:g.18649A>G, NM_001254.4:c.1512A>G, NM_001254.3:c.1512A>G, XM_011525541.3:c.1632A>G, XM_011525541.2:c.1632A>G, XM_011525541.1:c.1632A>G, XM_011525542.2:c.1632A>G, XM_011525542.1:c.1632A>G, XM_047437207.1:c.1512A>G

Select item 413503311.

rs4135033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:40302654 (GRCh38)
17:38458906 (GRCh37)
Canonical SPDI:: NC_000017.11:40302653:C:A
Gene:: CDC6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000393/13 (ALFA)
A=0./0 (HapMap)
A=0./0 (TWINSUK)
A=0.000259/1 (ALSPAC)
A=0.0004/56 (GnomAD)
A=0.000771/204 (TOPMED)
A=0.003123/16 (1000Genomes)
A=0.011636/34 (KOREAN)
A=0.015606/262 (TOMMO)
A=0.01583/29 (Korea1K)
A=0.018868/4 (Vietnamese)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40302654C>A, NC_000017.10:g.38458906C>A, NG_028240.2:g.19776C>A, NM_001254.4:c.*653C>A, NM_001254.3:c.*653C>A, XM_011525541.3:c.*653C>A, XM_011525541.2:c.*653C>A, XM_011525541.1:c.*653C>A, XM_011525542.2:c.*653C>A, XM_011525542.1:c.*653C>A, XM_047437207.1:c.*653C>A

Select item 413503412.

rs4135034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40302748 (GRCh38)
17:38459000 (GRCh37)
Canonical SPDI:: NC_000017.11:40302747:G:A
Gene:: CDC6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000193/3 (ALFA)
A=0.000259/1 (ALSPAC)
A=0.00034/90 (TOPMED)
A=0.000349/49 (GnomAD)
A=0.000539/2 (TWINSUK)
A=0.000625/3 (1000Genomes)
A=0.0033/2 (HapMap)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40302748G>A, NC_000017.10:g.38459000G>A, NG_028240.2:g.19870G>A, NM_001254.4:c.*747G>A, NM_001254.3:c.*747G>A, XM_011525541.3:c.*747G>A, XM_011525541.2:c.*747G>A, XM_011525541.1:c.*747G>A, XM_011525542.2:c.*747G>A, XM_011525542.1:c.*747G>A, XM_047437207.1:c.*747G>A

Select item 11362906313.

rs113629063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 17:40293648 (GRCh38)
17:38449900 (GRCh37)
Canonical SPDI:: NC_000017.11:40293647:T:A,NC_000017.11:40293647:T:C,NC_000017.11:40293647:T:G
Gene:: CDC6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (ALSPAC)
G=0.000011/3 (TOPMED)
G=0.00027/1 (TWINSUK)
HGVS:: NC_000017.11:g.40293648T>A, NC_000017.11:g.40293648T>C, NC_000017.11:g.40293648T>G, NC_000017.10:g.38449900T>A, NC_000017.10:g.38449900T>C, NC_000017.10:g.38449900T>G, NG_028240.2:g.10770T>A, NG_028240.2:g.10770T>C, NG_028240.2:g.10770T>G

Select item 13901308714.

rs139013087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40301471 (GRCh38)
17:38457723 (GRCh37)
Canonical SPDI:: NC_000017.11:40301470:T:C
Gene:: CDC6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000108/20 (ALFA)
C=0./0 (ALSPAC)
C=0.000051/4 (PAGE_STUDY)
C=0.00006/15 (GnomAD_exomes)
C=0.000064/17 (TOPMED)
C=0.000066/8 (ExAC)
C=0.000077/1 (GoESP)
C=0.000086/12 (GnomAD)
C=0.00027/1 (TWINSUK)
HGVS:: NC_000017.11:g.40301471T>C, NC_000017.10:g.38457723T>C, NG_028240.2:g.18593T>C, NM_001254.4:c.1456T>C, NM_001254.3:c.1456T>C, XM_011525541.3:c.1576T>C, XM_011525541.2:c.1576T>C, XM_011525541.1:c.1576T>C, XM_011525542.2:c.1576T>C, XM_011525542.1:c.1576T>C, XM_047437207.1:c.1456T>C, NP_001245.1:p.Tyr486His, XP_011523843.1:p.Tyr526His, XP_011523844.1:p.Tyr526His, XP_047293163.1:p.Tyr486His

Select item 13922589315.

rs139225893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40293965 (GRCh38)
17:38450217 (GRCh37)
Canonical SPDI:: NC_000017.11:40293964:C:T
Gene:: CDC6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (ExAC)
T=0.000016/4 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000077/1 (GoESP)
HGVS:: NC_000017.11:g.40293965C>T, NC_000017.10:g.38450217C>T, NG_028240.2:g.11087C>T, NM_001254.4:c.852C>T, NM_001254.3:c.852C>T, XM_011525541.3:c.852C>T, XM_011525541.2:c.852C>T, XM_011525541.1:c.852C>T, XM_011525542.2:c.852C>T, XM_011525542.1:c.852C>T, XM_047437207.1:c.852C>T

Select item 14138645716.

rs141386457 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40302182 (GRCh38)
17:38458434 (GRCh37)
Canonical SPDI:: NC_000017.11:40302181:A:G
Gene:: CDC6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000485/7 (ALFA)
G=0.000278/39 (GnomAD)
G=0.000408/108 (TOPMED)
G=0.001093/5 (1000Genomes)
G=0.00361/60 (TOMMO)
G=0.008556/25 (KOREAN)
G=0.010917/20 (Korea1K)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40302182A>G, NC_000017.10:g.38458434A>G, NG_028240.2:g.19304A>G, NM_001254.4:c.*181A>G, NM_001254.3:c.*181A>G, XM_011525541.3:c.*181A>G, XM_011525541.2:c.*181A>G, XM_011525541.1:c.*181A>G, XM_011525542.2:c.*181A>G, XM_011525542.1:c.*181A>G, XM_047437207.1:c.*181A>G

Select item 14228952817.

rs142289528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40289585 (GRCh38)
17:38445837 (GRCh37)
Canonical SPDI:: NC_000017.11:40289584:C:T
Gene:: CDC6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001977/98 (ALFA)
T=0.000223/1 (Estonian)
T=0.000778/3 (ALSPAC)
T=0.00097/136 (GnomAD)
T=0.001153/15 (GoESP)
T=0.001266/335 (TOPMED)
T=0.001874/9 (1000Genomes)
T=0.002212/556 (GnomAD_exomes)
T=0.002249/273 (ExAC)
T=0.002427/9 (TWINSUK)
T=0.009259/2 (Qatari)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40289585C>T, NC_000017.10:g.38445837C>T, NG_028240.2:g.6707C>T, NM_001254.4:c.165C>T, NM_001254.3:c.165C>T, XM_011525541.3:c.165C>T, XM_011525541.2:c.165C>T, XM_011525541.1:c.165C>T, XM_011525542.2:c.165C>T, XM_011525542.1:c.165C>T, XM_047437207.1:c.165C>T

Select item 14718613418.

rs147186134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40291648 (GRCh38)
17:38447900 (GRCh37)
Canonical SPDI:: NC_000017.11:40291647:C:T
Gene:: CDC6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000399/12 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000155/39 (GnomAD_exomes)
T=0.000166/20 (ExAC)
T=0.000384/5 (GoESP)
T=0.000606/85 (GnomAD)
T=0.000625/3 (1000Genomes)
T=0.000654/173 (TOPMED)
T=0.001195/94 (PAGE_STUDY)
HGVS:: NC_000017.11:g.40291648C>T, NC_000017.10:g.38447900C>T, NG_028240.2:g.8770C>T, NM_001254.4:c.640C>T, NM_001254.3:c.640C>T, XM_011525541.3:c.640C>T, XM_011525541.2:c.640C>T, XM_011525541.1:c.640C>T, XM_011525542.2:c.640C>T, XM_011525542.1:c.640C>T, XM_047437207.1:c.640C>T, NP_001245.1:p.Arg214Trp, XP_011523843.1:p.Arg214Trp, XP_011523844.1:p.Arg214Trp, XP_047293163.1:p.Arg214Trp

Select item 18192591519.

rs181925915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:40294440 (GRCh38)
17:38450692 (GRCh37)
Canonical SPDI:: NC_000017.11:40294439:G:A,NC_000017.11:40294439:G:C
Gene:: CDC6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00009/2 (ALFA)
A=0.00008/1 (GoESP)
A=0.00078/4 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.40294440G>A, NC_000017.11:g.40294440G>C, NC_000017.10:g.38450692G>A, NC_000017.10:g.38450692G>C, NG_028240.2:g.11562G>A, NG_028240.2:g.11562G>C, NM_001254.4:c.1020G>A, NM_001254.4:c.1020G>C, NM_001254.3:c.1020G>A, NM_001254.3:c.1020G>C, XM_011525541.3:c.1020G>A, XM_011525541.3:c.1020G>C, XM_011525541.2:c.1020G>A, XM_011525541.2:c.1020G>C, XM_011525541.1:c.1020G>A, XM_011525541.1:c.1020G>C, XM_011525542.2:c.1020G>A, XM_011525542.2:c.1020G>C, XM_011525542.1:c.1020G>A, XM_011525542.1:c.1020G>C, XM_047437207.1:c.1020G>A, XM_047437207.1:c.1020G>C

Select item 18208685720.

rs182086857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40291044 (GRCh38)
17:38447296 (GRCh37)
Canonical SPDI:: NC_000017.11:40291043:T:C
Gene:: CDC6 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000128/3 (ALFA)
C=0.000064/9 (GnomAD)
C=0.000091/11 (ExAC)
C=0.000106/28 (TOPMED)
C=0.000111/28 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40291044T>C, NC_000017.10:g.38447296T>C, NG_028240.2:g.8166T>C

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