CDH11 - SNP

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Select item 282161.

rs28216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:64988211 (GRCh38)
16:65022114 (GRCh37)
Canonical SPDI:: NC_000016.10:64988210:C:T
Gene:: CDH11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.392541/63309 (ALFA)
T=0.146865/89 (Vietnamese)
T=0.203128/3404 (TOMMO)
T=0.209831/397 (HapMap)
T=0.223766/1121 (1000Genomes)
T=0.2369/434 (Korea1K)
T=0.248123/727 (KOREAN)
T=0.263889/57 (Qatari)
T=0.279553/175 (Chileans)
T=0.301439/79788 (TOPMED)
T=0.310187/43425 (GnomAD)
T=0.322159/4190 (GoESP)
T=0.328793/82281 (GnomAD_exomes)
T=0.330631/40095 (ExAC)
T=0.338816/103 (FINRISK)
T=0.375/15 (GENOME_DK)
C=0.387387/86 (SGDP_PRJ)
T=0.404464/1812 (Estonian)
T=0.425297/1577 (TWINSUK)
T=0.425852/425 (GoNL)
T=0.428127/1650 (ALSPAC)
C=0.433333/13 (Siberian)
T=0.433333/260 (NorthernSweden)
C=0.490637/262 (MGP)
HGVS:: NC_000016.10:g.64988211C>T, NC_000016.9:g.65022114C>T, NG_029491.2:g.138806G>A, NM_001797.4:c.945G>A, NM_001797.3:c.945G>A, NM_001797.2:c.945G>A, NM_001308392.2:c.945G>A, NM_001308392.1:c.945G>A, NM_001330576.2:c.567G>A, NM_001330576.1:c.567G>A, XM_047433486.1:c.567G>A, NM_033664.1:c.945G>A

LitVar

Select item 351942.

rs35194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 16:64991946 (GRCh38)
16:65025849 (GRCh37)
Canonical SPDI:: NC_000016.10:64991945:A:C,NC_000016.10:64991945:A:G,NC_000016.10:64991945:A:T
Gene:: CDH11 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.09283/2869 (ALFA)
C=0./0 (KOREAN)
A=0./0 (Korea1K)
A=0./0 (Vietnamese)
A=0.000035/1 (TOMMO)
A=0.025/1 (GENOME_DK)
A=0.035714/2 (Siberian)
A=0.04/2 (PRJEB36033)
A=0.06367/34 (MGP)
A=0.070909/39 (SGDP_PRJ)
A=0.076515/383 (1000Genomes)
A=0.08487/21081 (GnomAD_exomes)
A=0.085581/10367 (ExAC)
A=0.088816/27 (FINRISK)
A=0.091182/91 (GoNL)
A=0.09442/423 (Estonian)
A=0.09466/351 (TWINSUK)
A=0.095228/25206 (TOPMED)
A=0.098539/13809 (GnomAD)
A=0.100108/1302 (GoESP)
A=0.103269/398 (ALSPAC)
A=0.106178/165 (HapMap)
A=0.115741/25 (Qatari)
A=0.116667/70 (NorthernSweden)
HGVS:: NC_000016.10:g.64991946A>C, NC_000016.10:g.64991946A>G, NC_000016.10:g.64991946A>T, NC_000016.9:g.65025849A>C, NC_000016.9:g.65025849A>G, NC_000016.9:g.65025849A>T, NG_029491.2:g.135071T>G, NG_029491.2:g.135071T>C, NG_029491.2:g.135071T>A

Select item 351953.

rs35195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:64991815 (GRCh38)
16:65025718 (GRCh37)
Canonical SPDI:: NC_000016.10:64991814:G:A
Gene:: CDH11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.332563/120107 (ALFA)
A=0.150573/92 (Vietnamese)
A=0.167747/13202 (PAGE_STUDY)
A=0.175132/331 (HapMap)
A=0.180356/903 (1000Genomes)
A=0.203128/3404 (TOMMO)
A=0.21881/456 (HGDP_Stanford)
A=0.2369/434 (Korea1K)
A=0.240741/52 (Qatari)
A=0.242234/64117 (TOPMED)
A=0.24744/725 (KOREAN)
A=0.247982/34716 (GnomAD)
A=0.260111/3383 (GoESP)
A=0.269737/82 (FINRISK)
A=0.270996/68078 (GnomAD_exomes)
A=0.272769/33053 (ExAC)
A=0.275/11 (GENOME_DK)
A=0.298734/236 (PRJEB37584)
A=0.321667/193 (NorthernSweden)
A=0.328345/373 (Daghestan)
A=0.340848/1527 (Estonian)
A=0.355178/1317 (TWINSUK)
A=0.358588/1382 (ALSPAC)
A=0.361723/361 (GoNL)
A=0.363636/24 (PRJEB36033)
G=0.410526/78 (SGDP_PRJ)
A=0.413858/221 (MGP)
G=0.461538/12 (Siberian)
HGVS:: NC_000016.10:g.64991815G>A, NC_000016.9:g.65025718G>A, NG_029491.2:g.135202C>T, NM_001797.4:c.764C>T, NM_001797.3:c.764C>T, NM_001797.2:c.764C>T, NM_001308392.2:c.764C>T, NM_001308392.1:c.764C>T, NM_001330576.2:c.386C>T, NM_001330576.1:c.386C>T, XM_047433486.1:c.386C>T, NM_033664.1:c.764C>T, NP_001788.2:p.Thr255Met, NP_001295321.1:p.Thr255Met, NP_001317505.1:p.Thr129Met, XP_047289442.1:p.Thr129Met

Select item 351964.

rs35196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 16:64991755 (GRCh38)
16:65025658 (GRCh37)
Canonical SPDI:: NC_000016.10:64991754:T:A,NC_000016.10:64991754:T:C,NC_000016.10:64991754:T:G
Gene:: CDH11 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.090758/13828 (ALFA)
A=0./0 (KOREAN)
T=0./0 (Korea1K)
T=0./0 (Vietnamese)
T=0.000035/1 (TOMMO)
T=0.025/1 (GENOME_DK)
T=0.035714/2 (Siberian)
T=0.06367/34 (MGP)
T=0.069091/38 (SGDP_PRJ)
T=0.075265/377 (1000Genomes)
T=0.084604/21103 (GnomAD_exomes)
T=0.085034/10265 (ExAC)
T=0.088816/27 (FINRISK)
T=0.091182/91 (GoNL)
T=0.093604/24776 (TOPMED)
T=0.094391/350 (TWINSUK)
T=0.094643/424 (Estonian)
T=0.096938/13586 (GnomAD)
T=0.097878/1273 (GoESP)
T=0.103529/399 (ALSPAC)
T=0.104113/162 (HapMap)
T=0.115741/25 (Qatari)
T=0.116667/70 (NorthernSweden)
HGVS:: NC_000016.10:g.64991755T>A, NC_000016.10:g.64991755T>C, NC_000016.10:g.64991755T>G, NC_000016.9:g.65025658T>A, NC_000016.9:g.65025658T>C, NC_000016.9:g.65025658T>G, NG_029491.2:g.135262A>T, NG_029491.2:g.135262A>G, NG_029491.2:g.135262A>C

Select item 352135.

rs35213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 16:64982184 (GRCh38)
16:65016087 (GRCh37)
Canonical SPDI:: NC_000016.10:64982183:A:C,NC_000016.10:64982183:A:T
Gene:: CDH11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.191395/65647 (ALFA)
A=0./0 (Korea1K)
A=0.000683/2 (KOREAN)
A=0.009772/6 (Vietnamese)
A=0.107143/6 (Siberian)
A=0.129555/64 (SGDP_PRJ)
A=0.143486/163 (Daghestan)
A=0.167411/750 (Estonian)
A=0.171343/171 (GoNL)
A=0.175/7 (GENOME_DK)
A=0.189139/101 (MGP)
A=0.194338/405 (HGDP_Stanford)
A=0.217391/20 (PRJEB36033)
A=0.240741/52 (Qatari)
A=0.243333/146 (NorthernSweden)
A=0.268426/1344 (1000Genomes)
A=0.293014/77558 (TOPMED)
A=0.307243/3996 (GoESP)
A=0.327391/25765 (PAGE_STUDY)
A=0.358612/558 (HapMap)
HGVS:: NC_000016.10:g.64982184A>C, NC_000016.10:g.64982184A>T, NC_000016.9:g.65016087A>C, NC_000016.9:g.65016087A>T, NG_029491.2:g.144833T>G, NG_029491.2:g.144833T>A, NM_001797.4:c.1117T>G, NM_001797.4:c.1117T>A, NM_001797.3:c.1117T>G, NM_001797.3:c.1117T>A, NM_001797.2:c.1117T>G, NM_001797.2:c.1117T>A, NM_001308392.2:c.1117T>G, NM_001308392.2:c.1117T>A, NM_001308392.1:c.1117T>G, NM_001308392.1:c.1117T>A, NM_001330576.2:c.739T>G, NM_001330576.2:c.739T>A, NM_001330576.1:c.739T>G, NM_001330576.1:c.739T>A, XM_047433486.1:c.739T>G, XM_047433486.1:c.739T>A, NM_033664.1:c.1117T>G, NM_033664.1:c.1117T>A, NP_001788.2:p.Ser373Ala, NP_001788.2:p.Ser373Thr, NP_001295321.1:p.Ser373Ala, NP_001295321.1:p.Ser373Thr, NP_001317505.1:p.Ser247Ala, NP_001317505.1:p.Ser247Thr, XP_047289442.1:p.Ser247Ala, XP_047289442.1:p.Ser247Thr

Select item 352146.

rs35214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:64982005 (GRCh38)
16:65015908 (GRCh37)
Canonical SPDI:: NC_000016.10:64982004:C:A,NC_000016.10:64982004:C:G,NC_000016.10:64982004:C:T
Gene:: CDH11 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.299912/8202 (ALFA)
G=0.065913/35 (Vietnamese)
G=0.187104/354 (HapMap)
G=0.192848/966 (1000Genomes)
G=0.203128/3404 (TOMMO)
G=0.2369/434 (Korea1K)
G=0.240741/52 (Qatari)
G=0.247782/726 (KOREAN)
G=0.255688/67678 (TOPMED)
G=0.260601/36494 (GnomAD)
G=0.269737/82 (FINRISK)
G=0.272951/3550 (GoESP)
G=0.275/11 (GENOME_DK)
G=0.323333/194 (NorthernSweden)
G=0.340402/1525 (Estonian)
G=0.355717/1319 (TWINSUK)
G=0.359367/1385 (ALSPAC)
G=0.364729/364 (GoNL)
C=0.412371/80 (SGDP_PRJ)
G=0.413858/221 (MGP)
C=0.461538/12 (Siberian)
HGVS:: NC_000016.10:g.64982005C>A, NC_000016.10:g.64982005C>G, NC_000016.10:g.64982005C>T, NC_000016.9:g.65015908C>A, NC_000016.9:g.65015908C>G, NC_000016.9:g.65015908C>T, NG_029491.2:g.145012G>T, NG_029491.2:g.145012G>C, NG_029491.2:g.145012G>A

LitVar

Select item 11308217.

rs1130821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:64988331 (GRCh38)
16:65022234 (GRCh37)
Canonical SPDI:: NC_000016.10:64988330:C:G,NC_000016.10:64988330:C:T
Gene:: CDH11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.128302/17144 (ALFA)
T=0.075/3 (GENOME_DK)
T=0.078704/17 (Qatari)
T=0.090909/6 (PRJEB36033)
T=0.108684/403 (TWINSUK)
T=0.11/66 (NorthernSweden)
T=0.111053/428 (ALSPAC)
T=0.111222/111 (GoNL)
T=0.11236/60 (MGP)
T=0.115254/1499 (GoESP)
T=0.144181/20207 (GnomAD)
T=0.15259/40389 (TOPMED)
T=0.18058/809 (Estonian)
T=0.182371/21994 (ExAC)
T=0.193019/48166 (GnomAD_exomes)
T=0.196844/15492 (PAGE_STUDY)
T=0.211587/1060 (1000Genomes)
T=0.240883/502 (HGDP_Stanford)
T=0.248344/75 (FINRISK)
T=0.366776/223 (Vietnamese)
C=0.369369/82 (SGDP_PRJ)
T=0.411026/753 (Korea1K)
T=0.413652/1212 (KOREAN)
C=0.416667/10 (Siberian)
T=0.422429/7080 (TOMMO)
HGVS:: NC_000016.10:g.64988331C>G, NC_000016.10:g.64988331C>T, NC_000016.9:g.65022234C>G, NC_000016.9:g.65022234C>T, NG_029491.2:g.138686G>C, NG_029491.2:g.138686G>A, NM_001797.4:c.825G>C, NM_001797.4:c.825G>A, NM_001797.3:c.825G>C, NM_001797.3:c.825G>A, NM_001797.2:c.825G>C, NM_001797.2:c.825G>A, NM_001308392.2:c.825G>C, NM_001308392.2:c.825G>A, NM_001308392.1:c.825G>C, NM_001308392.1:c.825G>A, NM_001330576.2:c.447G>C, NM_001330576.2:c.447G>A, NM_001330576.1:c.447G>C, NM_001330576.1:c.447G>A, XM_047433486.1:c.447G>C, XM_047433486.1:c.447G>A, NM_033664.1:c.825G>C, NM_033664.1:c.825G>A, NP_001788.2:p.Met275Ile, NP_001788.2:p.Met275Ile, NP_001295321.1:p.Met275Ile, NP_001295321.1:p.Met275Ile, NP_001317505.1:p.Met149Ile, NP_001317505.1:p.Met149Ile, XP_047289442.1:p.Met149Ile, XP_047289442.1:p.Met149Ile

Select item 23037668.

rs2303766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:65004783 (GRCh38)
16:65038686 (GRCh37)
Canonical SPDI:: NC_000016.10:65004782:C:T
Gene:: CDH11 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000256/6 (ALFA)
T=0.00025/35 (GnomAD)
T=0.000514/136 (TOPMED)
T=0.000989/219 (GnomAD_exomes)
T=0.001027/3 (KOREAN)
T=0.001177/73 (ExAC)
T=0.001638/3 (Korea1K)
T=0.003794/19 (1000Genomes)
T=0.00499/84 (TOMMO)
T=0.035889/22 (Vietnamese)
HGVS:: NC_000016.10:g.65004783C>T, NC_000016.9:g.65038686C>T, NG_029491.2:g.122234G>A, NM_001797.4:c.87G>A, NM_001797.3:c.87G>A, NM_001797.2:c.87G>A, NM_001308392.2:c.87G>A, NM_001308392.1:c.87G>A, NM_033664.1:c.87G>A

Select item 125975299.

rs12597529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:64971559 (GRCh38)
16:65005462 (GRCh37)
Canonical SPDI:: NC_000016.10:64971558:G:A
Gene:: CDH11 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.462832/13075 (ALFA)
G=0.168576/103 (Vietnamese)
G=0.20327/3407 (TOMMO)
G=0.2369/434 (Korea1K)
G=0.248464/728 (KOREAN)
G=0.255981/107 (SGDP_PRJ)
G=0.28/14 (Siberian)
A=0.397004/212 (MGP)
A=0.415116/5399 (GoESP)
A=0.433333/260 (NorthernSweden)
G=0.440789/134 (FINRISK)
A=0.442383/61931 (GnomAD)
A=0.446549/1721 (ALSPAC)
A=0.447482/118444 (TOPMED)
G=0.45/18 (GENOME_DK)
A=0.459008/1702 (TWINSUK)
G=0.464896/111974 (GnomAD_exomes)
A=0.46493/464 (GoNL)
G=0.465803/2333 (1000Genomes)
G=0.472559/57259 (ExAC)
G=0.486111/105 (Qatari)
A=0.492634/2207 (Estonian)
HGVS:: NC_000016.10:g.64971559G>A, NC_000016.9:g.65005462G>A, NG_029491.2:g.155458C>T

Select item 8013897110.

rs80138971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:64972023 (GRCh38)
16:65005926 (GRCh37)
Canonical SPDI:: NC_000016.10:64972022:C:T
Gene:: CDH11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000377/77 (ALFA)
T=0./0 (TWINSUK)
T=0.000259/1 (ALSPAC)
T=0.00074/186 (GnomAD_exomes)
T=0.000892/108 (ExAC)
T=0.001002/1 (GoNL)
T=0.002674/375 (GnomAD)
T=0.002691/35 (GoESP)
T=0.002724/721 (TOPMED)
T=0.003592/18 (1000Genomes)
T=0.003745/2 (MGP)
T=0.004193/330 (PAGE_STUDY)
HGVS:: NC_000016.10:g.64972023C>T, NC_000016.9:g.65005926C>T, NG_029491.2:g.154994G>A, NM_001797.4:c.1432G>A, NM_001797.3:c.1432G>A, NM_001797.2:c.1432G>A, NM_001308392.2:c.1432G>A, NM_001308392.1:c.1432G>A, NM_001330576.2:c.1054G>A, NM_001330576.1:c.1054G>A, XM_047433486.1:c.1054G>A, NM_033664.1:c.1432G>A, NP_001788.2:p.Val478Ile, NP_001295321.1:p.Val478Ile, NP_001317505.1:p.Val352Ile, XP_047289442.1:p.Val352Ile

Select item 14106332511.

rs141063325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:64972031 (GRCh38)
16:65005934 (GRCh37)
Canonical SPDI:: NC_000016.10:64972030:G:A,NC_000016.10:64972030:G:C
Gene:: CDH11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.004414/900 (ALFA)
A=0.00155/122 (PAGE_STUDY)
A=0.002595/10 (ALSPAC)
A=0.002655/13 (1000Genomes)
A=0.002922/38 (GoESP)
A=0.002967/11 (TWINSUK)
A=0.003102/821 (TOPMED)
A=0.003745/2 (MGP)
A=0.005/3 (NorthernSweden)
A=0.005368/650 (ExAC)
A=0.006012/6 (GoNL)
A=0.017857/80 (Estonian)
A=0.039474/12 (FINRISK)
G=0.5/1 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000016.10:g.64972031G>A, NC_000016.10:g.64972031G>C, NC_000016.9:g.65005934G>A, NC_000016.9:g.65005934G>C, NG_029491.2:g.154986C>T, NG_029491.2:g.154986C>G, NM_001797.4:c.1424C>T, NM_001797.4:c.1424C>G, NM_001797.3:c.1424C>T, NM_001797.3:c.1424C>G, NM_001797.2:c.1424C>T, NM_001797.2:c.1424C>G, NM_001308392.2:c.1424C>T, NM_001308392.2:c.1424C>G, NM_001308392.1:c.1424C>T, NM_001308392.1:c.1424C>G, NM_001330576.2:c.1046C>T, NM_001330576.2:c.1046C>G, NM_001330576.1:c.1046C>T, NM_001330576.1:c.1046C>G, XM_047433486.1:c.1046C>T, XM_047433486.1:c.1046C>G, NM_033664.1:c.1424C>T, NM_033664.1:c.1424C>G, NP_001788.2:p.Ala475Val, NP_001788.2:p.Ala475Gly, NP_001295321.1:p.Ala475Val, NP_001295321.1:p.Ala475Gly, NP_001317505.1:p.Ala349Val, NP_001317505.1:p.Ala349Gly, XP_047289442.1:p.Ala349Val, XP_047289442.1:p.Ala349Gly

Select item 14654912512.

rs146549125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:64972009 (GRCh38)
16:65005912 (GRCh37)
Canonical SPDI:: NC_000016.10:64972008:G:A
Gene:: CDH11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000865/39 (ALFA)
A=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
A=0.000704/177 (GnomAD_exomes)
A=0.000925/112 (ExAC)
A=0.001638/3 (Korea1K)
A=0.002439/342 (GnomAD)
A=0.002803/742 (TOPMED)
A=0.002845/37 (GoESP)
A=0.00406/20 (1000Genomes)
G=0.333333/2 (SGDP_PRJ)
HGVS:: NC_000016.10:g.64972009G>A, NC_000016.9:g.65005912G>A, NG_029491.2:g.155008C>T, NM_001797.4:c.1446C>T, NM_001797.3:c.1446C>T, NM_001797.2:c.1446C>T, NM_001308392.2:c.1446C>T, NM_001308392.1:c.1446C>T, NM_001330576.2:c.1068C>T, NM_001330576.1:c.1068C>T, XM_047433486.1:c.1068C>T, NM_033664.1:c.1446C>T

Select item 14808304813.

rs148083048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:64991897 (GRCh38)
16:65025800 (GRCh37)
Canonical SPDI:: NC_000016.10:64991896:C:A,NC_000016.10:64991896:C:T
Gene:: CDH11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000032/6 (ALFA)
A=0.000124/15 (ExAC)
A=0.000191/15 (PAGE_STUDY)
A=0.000231/3 (GoESP)
A=0.000468/2 (1000Genomes)
HGVS:: NC_000016.10:g.64991897C>A, NC_000016.10:g.64991897C>T, NC_000016.9:g.65025800C>A, NC_000016.9:g.65025800C>T, NG_029491.2:g.135120G>T, NG_029491.2:g.135120G>A, NM_001797.4:c.682G>T, NM_001797.4:c.682G>A, NM_001797.3:c.682G>T, NM_001797.3:c.682G>A, NM_001797.2:c.682G>T, NM_001797.2:c.682G>A, NM_001308392.2:c.682G>T, NM_001308392.2:c.682G>A, NM_001308392.1:c.682G>T, NM_001308392.1:c.682G>A, NM_001330576.2:c.304G>T, NM_001330576.2:c.304G>A, NM_001330576.1:c.304G>T, NM_001330576.1:c.304G>A, XM_047433486.1:c.304G>T, XM_047433486.1:c.304G>A, NM_033664.1:c.682G>T, NM_033664.1:c.682G>A, NP_001788.2:p.Ala228Ser, NP_001788.2:p.Ala228Thr, NP_001295321.1:p.Ala228Ser, NP_001295321.1:p.Ala228Thr, NP_001317505.1:p.Ala102Ser, NP_001317505.1:p.Ala102Thr, XP_047289442.1:p.Ala102Ser, XP_047289442.1:p.Ala102Thr

Select item 20023404914.

rs200234049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:64982054 (GRCh38)
16:65015957 (GRCh37)
Canonical SPDI:: NC_000016.10:64982053:G:A
Gene:: CDH11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000049/13 (TOPMED)
A=0.000094/11 (ExAC)
A=0.000133/33 (GnomAD_exomes)
A=0.00014/11 (PAGE_STUDY)
A=0.000625/3 (1000Genomes)
HGVS:: NC_000016.10:g.64982054G>A, NC_000016.9:g.65015957G>A, NG_029491.2:g.144963C>T, NM_001797.4:c.1247C>T, NM_001797.3:c.1247C>T, NM_001797.2:c.1247C>T, NM_001308392.2:c.1247C>T, NM_001308392.1:c.1247C>T, NM_001330576.2:c.869C>T, NM_001330576.1:c.869C>T, XM_047433486.1:c.869C>T, NM_033664.1:c.1247C>T, NP_001788.2:p.Pro416Leu, NP_001295321.1:p.Pro416Leu, NP_001317505.1:p.Pro290Leu, XP_047289442.1:p.Pro290Leu

LitVar

Select item 20040489715.

rs200404897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:64971658 (GRCh38)
16:65005561 (GRCh37)
Canonical SPDI:: NC_000016.10:64971657:C:T
Gene:: CDH11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000063/12 (ALFA)
T=0.000057/8 (GnomAD)
T=0.000077/1 (GoESP)
T=0.000132/35 (TOPMED)
T=0.000152/12 (PAGE_STUDY)
T=0.000156/1 (1000Genomes)
T=0.000275/69 (GnomAD_exomes)
T=0.000338/41 (ExAC)
HGVS:: NC_000016.10:g.64971658C>T, NC_000016.9:g.65005561C>T, NG_029491.2:g.155359G>A, NM_001797.4:c.1563G>A, NM_001797.3:c.1563G>A, NM_001797.2:c.1563G>A, NM_001308392.2:c.1563G>A, NM_001308392.1:c.1563G>A, NM_001330576.2:c.1185G>A, NM_001330576.1:c.1185G>A, XM_047433486.1:c.1185G>A, NM_033664.1:c.1563G>A

Select item 20111079416.

rs201110794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:64988224 (GRCh38)
16:65022127 (GRCh37)
Canonical SPDI:: NC_000016.10:64988223:T:C,NC_000016.10:64988223:T:G
Gene:: CDH11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000263/50 (ALFA)
C=0.000156/1 (1000Genomes)
C=0.000356/28 (PAGE_STUDY)
C=0.002265/38 (TOMMO)
C=0.003788/3 (PRJEB37584)
C=0.003821/7 (Korea1K)
C=0.004791/14 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.64988224T>C, NC_000016.10:g.64988224T>G, NC_000016.9:g.65022127T>C, NC_000016.9:g.65022127T>G, NG_029491.2:g.138793A>G, NG_029491.2:g.138793A>C, NM_001797.4:c.932A>G, NM_001797.4:c.932A>C, NM_001797.3:c.932A>G, NM_001797.3:c.932A>C, NM_001797.2:c.932A>G, NM_001797.2:c.932A>C, NM_001308392.2:c.932A>G, NM_001308392.2:c.932A>C, NM_001308392.1:c.932A>G, NM_001308392.1:c.932A>C, NM_001330576.2:c.554A>G, NM_001330576.2:c.554A>C, NM_001330576.1:c.554A>G, NM_001330576.1:c.554A>C, XM_047433486.1:c.554A>G, XM_047433486.1:c.554A>C, NM_033664.1:c.932A>G, NM_033664.1:c.932A>C, NP_001788.2:p.Asp311Gly, NP_001788.2:p.Asp311Ala, NP_001295321.1:p.Asp311Gly, NP_001295321.1:p.Asp311Ala, NP_001317505.1:p.Asp185Gly, NP_001317505.1:p.Asp185Ala, XP_047289442.1:p.Asp185Gly, XP_047289442.1:p.Asp185Ala

Select item 20129529417.

rs201295294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:64982248 (GRCh38)
16:65016151 (GRCh37)
Canonical SPDI:: NC_000016.10:64982247:G:A,NC_000016.10:64982247:G:C
Gene:: CDH11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000038/10 (TOPMED)
A=0.000043/6 (GnomAD)
A=0.000064/16 (GnomAD_exomes)
A=0.000091/11 (ExAC)
A=0.000312/2 (1000Genomes)
A=0.002088/35 (TOMMO)
A=0.003821/7 (Korea1K)
A=0.004791/14 (KOREAN)
HGVS:: NC_000016.10:g.64982248G>A, NC_000016.10:g.64982248G>C, NC_000016.9:g.65016151G>A, NC_000016.9:g.65016151G>C, NG_029491.2:g.144769C>T, NG_029491.2:g.144769C>G, NM_001797.4:c.1053C>T, NM_001797.4:c.1053C>G, NM_001797.3:c.1053C>T, NM_001797.3:c.1053C>G, NM_001797.2:c.1053C>T, NM_001797.2:c.1053C>G, NM_001308392.2:c.1053C>T, NM_001308392.2:c.1053C>G, NM_001308392.1:c.1053C>T, NM_001308392.1:c.1053C>G, NM_001330576.2:c.675C>T, NM_001330576.2:c.675C>G, NM_001330576.1:c.675C>T, NM_001330576.1:c.675C>G, XM_047433486.1:c.675C>T, XM_047433486.1:c.675C>G, NM_033664.1:c.1053C>T, NM_033664.1:c.1053C>G, NP_001788.2:p.Asn351Lys, NP_001295321.1:p.Asn351Lys, NP_001317505.1:p.Asn225Lys, XP_047289442.1:p.Asn225Lys

Select item 75691041218.

rs756910412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:64998558 (GRCh38)
16:65032461 (GRCh37)
Canonical SPDI:: NC_000016.10:64998557:G:A
Gene:: CDH11 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000049/13 (TOPMED)
A=0.000074/9 (ExAC)
A=0.00008/20 (GnomAD_exomes)
HGVS:: NC_000016.10:g.64998558G>A, NC_000016.9:g.65032461G>A, NG_029491.2:g.128459C>T

Select item 75714217119.

rs757142171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:65004775 (GRCh38)
16:65038678 (GRCh37)
Canonical SPDI:: NC_000016.10:65004774:C:A,NC_000016.10:65004774:C:T
Gene:: CDH11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/1 (ExAC)
T=0.000015/4 (TOPMED)
T=0.000019/4 (GnomAD_exomes)
HGVS:: NC_000016.10:g.65004775C>A, NC_000016.10:g.65004775C>T, NC_000016.9:g.65038678C>A, NC_000016.9:g.65038678C>T, NG_029491.2:g.122242G>T, NG_029491.2:g.122242G>A, NM_001797.4:c.95G>T, NM_001797.4:c.95G>A, NM_001797.3:c.95G>T, NM_001797.3:c.95G>A, NM_001797.2:c.95G>T, NM_001797.2:c.95G>A, NM_001308392.2:c.95G>T, NM_001308392.2:c.95G>A, NM_001308392.1:c.95G>T, NM_001308392.1:c.95G>A, NM_033664.1:c.95G>T, NM_033664.1:c.95G>A, NP_001788.2:p.Arg32Leu, NP_001788.2:p.Arg32Gln, NP_001295321.1:p.Arg32Leu, NP_001295321.1:p.Arg32Gln

LitVar

Select item 77660927220.

rs776609272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:64947970 (GRCh38)
16:64981873 (GRCh37)
Canonical SPDI:: NC_000016.10:64947969:G:C,NC_000016.10:64947969:G:T
Gene:: CDH11 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (ExAC)
C=0.000012/3 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000142/2 (TOMMO)
C=0.000446/2 (Estonian)
HGVS:: NC_000016.10:g.64947970G>C, NC_000016.10:g.64947970G>T, NC_000016.9:g.64981873G>C, NC_000016.9:g.64981873G>T, NG_029491.2:g.179047C>G, NG_029491.2:g.179047C>A, NM_001797.4:c.2024C>G, NM_001797.4:c.2024C>A, NM_001797.3:c.2024C>G, NM_001797.3:c.2024C>A, NM_001797.2:c.2024C>G, NM_001797.2:c.2024C>A, NM_001308392.2:c.*121C>G, NM_001308392.2:c.*121C>A, NM_001308392.1:c.*121C>G, NM_001308392.1:c.*121C>A, NM_001330576.2:c.1646C>G, NM_001330576.2:c.1646C>A, NM_001330576.1:c.1646C>G, NM_001330576.1:c.1646C>A, XM_047433486.1:c.1646C>G, XM_047433486.1:c.1646C>A, NM_033664.1:c.*121C>G, NM_033664.1:c.*121C>A, NP_001788.2:p.Ala675Gly, NP_001788.2:p.Ala675Asp, NP_001317505.1:p.Ala549Gly, NP_001317505.1:p.Ala549Asp, XP_047289442.1:p.Ala549Gly, XP_047289442.1:p.Ala549Asp

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