CES1 - SNP - NCBI

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 16:55819147 (GRCh38)
16:55853059 (GRCh37)
Canonical SPDI:: NC_000016.10:55819146:A:C,NC_000016.10:55819146:A:G,NC_000016.10:55819146:A:T
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.163361/3393 (ALFA)
A=0.112224/112 (GoNL)
A=0.131667/79 (NorthernSweden)
A=0.160719/22411 (GnomAD)
A=0.168397/44573 (TOPMED)
A=0.175429/327 (HapMap)
A=0.193182/102 (SGDP_PRJ)
A=0.211538/11 (Siberian)
A=0.223142/1117 (1000Genomes)
A=0.240741/52 (Qatari)
A=0.336896/5646 (TOMMO)
A=0.403072/1181 (KOREAN)
A=0.462617/99 (Vietnamese)
HGVS:: NC_000016.10:g.55819147A>C, NC_000016.10:g.55819147A>G, NC_000016.10:g.55819147A>T, NC_000016.9:g.55853059A>C, NC_000016.9:g.55853059A>G, NC_000016.9:g.55853059A>T, NG_012057.1:g.19017T>G, NG_012057.1:g.19017T>C, NG_012057.1:g.19017T>A, NW_003315945.1:g.43025G>A, NW_003315945.1:g.43025G>C, NW_003315945.1:g.43025G>T

Select item 18241415.

rs1824141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:55821740 (GRCh38)
16:55855652 (GRCh37)
Canonical SPDI:: NC_000016.10:55821739:C:A,NC_000016.10:55821739:C:T
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
T=0.00052/2 (ALSPAC)
T=0.00054/2 (TWINSUK)
T=0.00127/21 (TOMMO)
T=0.00171/5 (KOREAN)
T=0.00463/1 (Qatari)
T=0.00937/47 (1000Genomes)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000016.10:g.55821740C>A, NC_000016.10:g.55821740C>T, NC_000016.9:g.55855652C>A, NC_000016.9:g.55855652C>T, NG_012057.1:g.16424G>T, NG_012057.1:g.16424G>A, NW_003315945.1:g.45618C>A, NW_003315945.1:g.45618C>T

Select item 18332486.

rs1833248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:55824516 (GRCh38)
16:55858428 (GRCh37)
Canonical SPDI:: NC_000016.10:55824515:A:G
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.025446/425 (ALFA)
G=0.013333/8 (NorthernSweden)
G=0.020766/77 (TWINSUK)
G=0.023563/3299 (GnomAD)
G=0.023612/91 (ALSPAC)
G=0.031062/31 (GoNL)
G=0.032407/7 (Qatari)
G=0.05/2 (GENOME_DK)
G=0.050593/253 (1000Genomes)
G=0.059275/85 (HapMap)
G=0.086348/253 (KOREAN)
G=0.106481/23 (Vietnamese)
G=0.127185/2132 (TOMMO)
A=0.5/4 (Siberian)
A=0.5/52 (SGDP_PRJ)
HGVS:: NC_000016.10:g.55824516A>G, NC_000016.9:g.55858428A>G, NG_012057.1:g.13648T>C, NW_003315945.1:g.48394A>G

Select item 18332497.

rs1833249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 16:55821059 (GRCh38)
16:55854971 (GRCh37)
Canonical SPDI:: NC_000016.10:55821058:T:A,NC_000016.10:55821058:T:G
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.287064/2339 (ALFA)
T=0.146293/146 (GoNL)
T=0.15/90 (NorthernSweden)
T=0.174624/673 (ALSPAC)
T=0.175/7 (Siberian)
T=0.179342/665 (TWINSUK)
T=0.245574/65001 (TOPMED)
T=0.246667/111 (SGDP_PRJ)
T=0.291667/63 (Qatari)
T=0.338538/1695 (1000Genomes)
G=0.391468/1147 (KOREAN)
G=0.393729/6599 (TOMMO)
HGVS:: NC_000016.10:g.55821059T>A, NC_000016.10:g.55821059T>G, NC_000016.9:g.55854971T>A, NC_000016.9:g.55854971T>G, NG_012057.1:g.17105A>T, NG_012057.1:g.17105A>C, NW_003315945.1:g.44937T>A, NW_003315945.1:g.44937T>G

Select item 18332508.

rs1833250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:55819406 (GRCh38)
16:55853318 (GRCh37)
Canonical SPDI:: NC_000016.10:55819405:G:T
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.2927/8596 (ALFA)
G=0.185/111 (NorthernSweden)
G=0.203407/203 (GoNL)
G=0.225/9 (GENOME_DK)
G=0.225/9 (Siberian)
G=0.227815/878 (ALSPAC)
G=0.230583/855 (TWINSUK)
G=0.26779/143 (MGP)
G=0.31383/118 (SGDP_PRJ)
T=0.382086/6404 (TOMMO)
G=0.382519/53252 (GnomAD)
T=0.382935/1122 (KOREAN)
T=0.402778/87 (Vietnamese)
G=0.404432/107049 (TOPMED)
G=0.458333/99 (Qatari)
G=0.498126/2495 (1000Genomes)
HGVS:: NC_000016.10:g.55819406G>T, NC_000016.9:g.55853318G>T, NG_012057.1:g.18758C>A, NW_003315945.1:g.43284G>T

Select item 18332519.

rs1833251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:55813361 (GRCh38)
16:55847273 (GRCh37)
Canonical SPDI:: NC_000016.10:55813360:A:G
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.295004/4818 (ALFA)
A=0.317961/131 (SGDP_PRJ)
A=0.326894/45235 (GnomAD)
A=0.346896/91820 (TOPMED)
G=0.382263/6407 (TOMMO)
G=0.382272/1117 (KOREAN)
A=0.421296/91 (Qatari)
A=0.438476/2196 (1000Genomes)
HGVS:: NC_000016.10:g.55813361A>G, NC_000016.9:g.55847273A>G, NG_012057.1:g.24803T>C, NW_003315945.1:g.37239A>G

Select item 196565810.

rs1965658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 16:55812777 (GRCh38)
16:55846689 (GRCh37)
Canonical SPDI:: NC_000016.10:55812776:T:A,NC_000016.10:55812776:T:C,NC_000016.10:55812776:T:G
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.298826/4682 (ALFA)
T=0.185/111 (NorthernSweden)
T=0.202405/202 (GoNL)
T=0.225/9 (GENOME_DK)
T=0.225/9 (Siberian)
T=0.229372/884 (ALSPAC)
T=0.231661/859 (TWINSUK)
T=0.286517/153 (MGP)
T=0.316176/129 (SGDP_PRJ)
T=0.33011/45942 (GnomAD)
T=0.349416/92487 (TOPMED)
C=0.382334/6408 (TOMMO)
C=0.383276/1123 (KOREAN)
C=0.393519/85 (Vietnamese)
T=0.421296/91 (Qatari)
T=0.441755/2212 (1000Genomes)
HGVS:: NC_000016.10:g.55812777T>A, NC_000016.10:g.55812777T>C, NC_000016.10:g.55812777T>G, NC_000016.9:g.55846689T>A, NC_000016.9:g.55846689T>C, NC_000016.9:g.55846689T>G, NG_012057.1:g.25387A>T, NG_012057.1:g.25387A>G, NG_012057.1:g.25387A>C, NW_003315945.1:g.36655T>A, NW_003315945.1:g.36655T>C, NW_003315945.1:g.36655T>G

Select item 196875311.

rs1968753 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:55811439 (GRCh38)
16:55845351 (GRCh37)
Canonical SPDI:: NC_000016.10:55811438:A:G
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.26897/24175 (ALFA)
A=0.185/111 (NorthernSweden)
A=0.202405/202 (GoNL)
A=0.225/9 (Siberian)
A=0.230929/890 (ALSPAC)
A=0.231392/858 (TWINSUK)
A=0.312808/127 (SGDP_PRJ)
A=0.332067/46142 (GnomAD)
A=0.351914/93148 (TOPMED)
G=0.382157/6405 (TOMMO)
G=0.382594/1121 (KOREAN)
G=0.398148/86 (Vietnamese)
A=0.421296/91 (Qatari)
A=0.444566/2226 (1000Genomes)
A=0.45122/851 (HapMap)
HGVS:: NC_000016.10:g.55811439A>G, NC_000016.9:g.55845351A>G, NG_012057.1:g.26725T>C, NW_003315945.1:g.35317A>G

PubMed LitVar

Select item 200257712.

rs2002577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:55815590 (GRCh38)
16:55849502 (GRCh37)
Canonical SPDI:: NC_000016.10:55815589:G:A,NC_000016.10:55815589:G:C,NC_000016.10:55815589:G:T
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.148297/148 (GoNL)
G=0.15/90 (NorthernSweden)
G=0.175/7 (Siberian)
G=0.277273/122 (SGDP_PRJ)
G=0.288326/76317 (TOPMED)
G=0.319444/69 (Qatari)
C=0.357326/278 (PRJEB37584)
G=0.388039/1943 (1000Genomes)
C=0.390785/1145 (KOREAN)
C=0.392455/6578 (TOMMO)
C=0.398148/86 (Vietnamese)
HGVS:: NC_000016.10:g.55815590G>A, NC_000016.10:g.55815590G>C, NC_000016.10:g.55815590G>T, NC_000016.9:g.55849502G>A, NC_000016.9:g.55849502G>C, NC_000016.9:g.55849502G>T, NG_012057.1:g.22574C>T, NG_012057.1:g.22574C>G, NG_012057.1:g.22574C>A, NW_003315945.1:g.39468G>A, NW_003315945.1:g.39468G>C, NW_003315945.1:g.39468G>T

Select item 205880813.

rs2058808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:55831945 (GRCh38)
16:55865857 (GRCh37)
Canonical SPDI:: NC_000016.10:55831944:C:T
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.36027/5884 (ALFA)
C=0.40522/2595 (1000Genomes)
C=0.42308/11 (Siberian)
C=0.4442/812 (Korea1K)
C=0.45228/218 (SGDP_PRJ)
C=0.45746/7667 (TOMMO)
C=0.47541/1392 (KOREAN)
C=0.47685/103 (Qatari)
C=0.49098/490 (GoNL)
HGVS:: NC_000016.10:g.55831945C>T, NC_000016.9:g.55865857C>T, NG_012057.1:g.6219G>A, NW_003315945.1:g.55847C>T

Select item 211122814.

rs2111228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:55823987 (GRCh38)
16:55857899 (GRCh37)
Canonical SPDI:: NC_000016.10:55823986:G:A
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00716/117 (ALFA)
A=0.00251/42 (TOMMO)
A=0.01232/36 (KOREAN)
A=0.03217/206 (1000Genomes)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000016.10:g.55823987G>A, NC_000016.9:g.55857899G>A, NG_012057.1:g.14177C>T, NW_003315945.1:g.47865G>A

Select item 216861015.

rs2168610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:55808496 (GRCh38)
16:55842408 (GRCh37)
Canonical SPDI:: NC_000016.10:55808495:T:A,NC_000016.10:55808495:T:C
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.376197/2121 (ALFA)
C=0.058824/2 (Korea1K)
T=0.149299/149 (GoNL)
T=0.15/90 (NorthernSweden)
T=0.175/7 (Siberian)
T=0.225/9 (GENOME_DK)
T=0.274419/118 (SGDP_PRJ)
T=0.327848/86778 (TOPMED)
T=0.342593/74 (Qatari)
C=0.39215/1149 (KOREAN)
C=0.393871/6601 (TOMMO)
C=0.402778/87 (Vietnamese)
T=0.427545/2141 (1000Genomes)
HGVS:: NC_000016.10:g.55808496T>A, NC_000016.10:g.55808496T>C, NC_000016.9:g.55842408T>A, NC_000016.9:g.55842408T>C, NG_012057.1:g.29668A>T, NG_012057.1:g.29668A>G, NW_003315945.1:g.32369T>A, NW_003315945.1:g.32369T>C

Select item 224461316.

rs2244613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:55810697 (GRCh38)
16:55844609 (GRCh37)
Canonical SPDI:: NC_000016.10:55810696:G:A,NC_000016.10:55810696:G:C,NC_000016.10:55810696:G:T
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.205255/35214 (ALFA)
G=0.132075/14 (PRJEB36033)
G=0.146293/146 (GoNL)
G=0.15/90 (NorthernSweden)
G=0.157303/28 (PharmGKB)
G=0.175/7 (Siberian)
G=0.176959/682 (ALSPAC)
G=0.179881/667 (TWINSUK)
G=0.194079/59 (FINRISK)
G=0.213066/2769 (GoESP)
G=0.220499/30645 (GnomAD)
G=0.225/9 (GENOME_DK)
G=0.237716/62921 (TOPMED)
G=0.241071/108 (SGDP_PRJ)
G=0.265928/32198 (ExAC)
G=0.282407/61 (Qatari)
G=0.32995/1652 (1000Genomes)
G=0.348315/186 (MGP)
T=0.361183/281 (PRJEB37584)
T=0.392077/1148 (KOREAN)
T=0.393835/6601 (TOMMO)
T=0.403279/246 (Vietnamese)
HGVS:: NC_000016.10:g.55810697G>A, NC_000016.10:g.55810697G>C, NC_000016.10:g.55810697G>T, NC_000016.9:g.55844609G>A, NC_000016.9:g.55844609G>C, NC_000016.9:g.55844609G>T, NG_012057.1:g.27467C>T, NG_012057.1:g.27467C>G, NG_012057.1:g.27467C>A, NW_003315945.1:g.34574G>A, NW_003315945.1:g.34574G>C, NW_003315945.1:g.34574G>T

PubMed LitVar

Select item 224461417.

rs2244614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:55810705 (GRCh38)
16:55844617 (GRCh37)
Canonical SPDI:: NC_000016.10:55810704:G:A,NC_000016.10:55810704:G:C,NC_000016.10:55810704:G:T
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.424177/28492 (ALFA)
A=0.037879/5 (PharmGKB)
A=0.181911/533 (KOREAN)
G=0.323529/11 (Siberian)
G=0.36478/116 (SGDP_PRJ)
A=0.364928/1828 (1000Genomes)
G=0.375/15 (GENOME_DK)
G=0.380762/380 (GoNL)
G=0.381422/1470 (ALSPAC)
G=0.383225/1421 (TWINSUK)
G=0.39/234 (NorthernSweden)
G=0.406367/217 (MGP)
A=0.421296/91 (Qatari)
A=0.481065/127333 (TOPMED)
G=0.481511/120216 (GnomAD_exomes)
G=0.487834/59026 (ExAC)
G=0.498076/6473 (GoESP)
G=0.499727/69566 (GnomAD)
HGVS:: NC_000016.10:g.55810705G>A, NC_000016.10:g.55810705G>C, NC_000016.10:g.55810705G>T, NC_000016.9:g.55844617G>A, NC_000016.9:g.55844617G>C, NC_000016.9:g.55844617G>T, NG_012057.1:g.27459C>T, NG_012057.1:g.27459C>G, NG_012057.1:g.27459C>A, NW_003315945.1:g.34582G>A, NW_003315945.1:g.34582G>C, NW_003315945.1:g.34582G>T

PubMed

Select item 224873618.

rs2248736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:55831962 (GRCh38)
16:55865874 (GRCh37)
Canonical SPDI:: NC_000016.10:55831961:C:G,NC_000016.10:55831961:C:T
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.24988/4081 (ALFA)
T=0.20797/381 (Korea1K)
T=0.3/12 (GENOME_DK)
T=0.30403/1947 (1000Genomes)
T=0.31032/5200 (TOMMO)
T=0.31592/925 (KOREAN)
T=0.40741/88 (Qatari)
C=0.49057/208 (SGDP_PRJ)
C=0.5/7 (Siberian)
HGVS:: NC_000016.10:g.55831962C>G, NC_000016.10:g.55831962C>T, NC_000016.9:g.55865874C>G, NC_000016.9:g.55865874C>T, NG_012057.1:g.6202G>C, NG_012057.1:g.6202G>A, NW_003315945.1:g.55864T>C, NW_003315945.1:g.55864T>G

Select item 224873919.

rs2248739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:55832033 (GRCh38)
16:55865945 (GRCh37)
Canonical SPDI:: NC_000016.10:55832032:C:T
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
T=0.00015/21 (GnomAD)
T=0.000546/1 (Korea1K)
T=0.000685/2 (KOREAN)
T=0.000781/4 (1000Genomes)
T=0.002053/34 (TOMMO)
HGVS:: NC_000016.10:g.55832033C>T, NC_000016.9:g.55865945C>T, NG_012057.1:g.6131G>A, NW_003315945.1:g.55937T>C

Select item 230271920.

rs2302719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 16:55816796 (GRCh38)
16:55850708 (GRCh37)
Canonical SPDI:: NC_000016.10:55816795:T:A,NC_000016.10:55816795:T:G
Gene:: CES1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.272196/32774 (ALFA)
T=0.185/111 (NorthernSweden)
T=0.202405/202 (GoNL)
T=0.225/9 (Siberian)
T=0.229891/886 (ALSPAC)
T=0.235976/875 (TWINSUK)
T=0.2603/139 (MGP)
T=0.318627/130 (SGDP_PRJ)
G=0.346547/271 (PRJEB37584)
T=0.348472/92237 (TOPMED)
G=0.382263/6407 (TOMMO)
G=0.383276/1123 (KOREAN)
G=0.393519/85 (Vietnamese)
T=0.421296/91 (Qatari)
T=0.440662/2207 (1000Genomes)
HGVS:: NC_000016.10:g.55816796T>A, NC_000016.10:g.55816796T>G, NC_000016.9:g.55850708T>A, NC_000016.9:g.55850708T>G, NG_012057.1:g.21368A>T, NG_012057.1:g.21368A>C, NW_003315945.1:g.40674T>A, NW_003315945.1:g.40674T>G

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