CNTN1 - SNP

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Select item 2789081.

rs278908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:41028025 (GRCh38)
12:41421827 (GRCh37)
Canonical SPDI:: NC_000012.12:41028024:C:A,NC_000012.12:41028024:C:G,NC_000012.12:41028024:C:T
Gene:: CNTN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.004586/56 (ALFA)
G=0./0 (HapMap)
G=0.00027/1 (TWINSUK)
G=0.000519/2 (ALSPAC)
G=0.001002/1 (GoNL)
G=0.00739/1035 (GnomAD)
G=0.007858/2080 (TOPMED)
G=0.010618/53 (1000Genomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000012.12:g.41028025C>A, NC_000012.12:g.41028025C>G, NC_000012.12:g.41028025C>T, NC_000012.11:g.41421827C>A, NC_000012.11:g.41421827C>G, NC_000012.11:g.41421827C>T, NG_012058.2:g.340470C>A, NG_012058.2:g.340470C>G, NG_012058.2:g.340470C>T

Select item 2789112.

rs278911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:40993308 (GRCh38)
12:41387110 (GRCh37)
Canonical SPDI:: NC_000012.12:40993307:C:G
Gene:: CNTN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.251592/7032 (ALFA)
G=0.090349/264 (KOREAN)
G=0.102941/21 (HapMap)
G=0.10482/1757 (TOMMO)
G=0.206667/124 (NorthernSweden)
G=0.209738/112 (MGP)
G=0.211728/816 (ALSPAC)
G=0.216559/803 (TWINSUK)
G=0.218437/218 (GoNL)
G=0.219975/51692 (GnomAD_exomes)
G=0.226339/1014 (Estonian)
G=0.239273/24179 (ExAC)
G=0.25/10 (GENOME_DK)
G=0.268114/1343 (1000Genomes)
G=0.276316/84 (FINRISK)
G=0.286475/75827 (TOPMED)
G=0.291808/40814 (GnomAD)
G=0.298169/3875 (GoESP)
G=0.319444/69 (Qatari)
C=0.380952/80 (SGDP_PRJ)
C=0.5/6 (Siberian)
HGVS:: NC_000012.12:g.40993308C>G, NC_000012.11:g.41387110C>G, NG_012058.2:g.305753C>G

Select item 2789123.

rs278912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:40992941 (GRCh38)
12:41386743 (GRCh37)
Canonical SPDI:: NC_000012.12:40992940:A:G,NC_000012.12:40992940:A:T
Gene:: CNTN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.138257/1958 (ALFA)
T=0.090691/265 (KOREAN)
T=0.10482/1757 (TOMMO)
T=0.158879/34 (Vietnamese)
T=0.206667/124 (NorthernSweden)
T=0.21588/832 (ALSPAC)
T=0.217368/806 (TWINSUK)
T=0.217435/217 (GoNL)
T=0.226562/1015 (Estonian)
T=0.240319/1204 (1000Genomes)
T=0.25/10 (GENOME_DK)
T=0.26092/69063 (TOPMED)
T=0.267975/37531 (GnomAD)
T=0.305556/66 (Qatari)
A=0.403846/84 (SGDP_PRJ)
A=0.5/6 (Siberian)
HGVS:: NC_000012.12:g.40992941A>G, NC_000012.12:g.40992941A>T, NC_000012.11:g.41386743A>G, NC_000012.11:g.41386743A>T, NG_012058.2:g.305386A>G, NG_012058.2:g.305386A>T

Select item 2803624.

rs280362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:41020555 (GRCh38)
12:41414357 (GRCh37)
Canonical SPDI:: NC_000012.12:41020554:A:C
Gene:: CNTN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.083854/1584 (ALFA)
C=0.011294/33 (KOREAN)
C=0.030788/516 (TOMMO)
C=0.033019/7 (Vietnamese)
C=0.041667/25 (NorthernSweden)
C=0.046117/171 (TWINSUK)
C=0.046705/180 (ALSPAC)
C=0.05/2 (GENOME_DK)
C=0.052104/52 (GoNL)
C=0.081696/366 (Estonian)
C=0.087963/19 (Qatari)
C=0.095308/25227 (TOPMED)
C=0.096814/485 (1000Genomes)
C=0.098827/13845 (GnomAD)
C=0.134146/44 (HapMap)
A=0.45122/37 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000012.12:g.41020555A>C, NC_000012.11:g.41414357A>C, NG_012058.2:g.333000A>C

Select item 3979675.

rs397967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:41014332 (GRCh38)
12:41408134 (GRCh37)
Canonical SPDI:: NC_000012.12:41014331:G:A
Gene:: CNTN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.032926/5873 (ALFA)
A=0.01/6 (NorthernSweden)
A=0.010951/32 (KOREAN)
A=0.018486/21 (Daghestan)
A=0.020766/77 (TWINSUK)
A=0.021536/83 (ALSPAC)
A=0.024048/24 (GoNL)
A=0.025/1 (GENOME_DK)
A=0.028037/6 (Vietnamese)
A=0.029231/490 (TOMMO)
A=0.031298/7813 (GnomAD_exomes)
A=0.034043/4029 (ExAC)
A=0.039326/21 (MGP)
A=0.047768/214 (Estonian)
A=0.050926/11 (Qatari)
A=0.071336/18882 (TOPMED)
A=0.071515/10026 (GnomAD)
A=0.073505/956 (GoESP)
A=0.078545/393 (1000Genomes)
A=0.095666/181 (HapMap)
G=0.469697/31 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000012.12:g.41014332G>A, NC_000012.11:g.41408134G>A, NG_012058.2:g.326777G>A

Select item 4449276.

rs444927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:41070201 (GRCh38)
12:41464003 (GRCh37)
Canonical SPDI:: NC_000012.12:41070200:G:A,NC_000012.12:41070200:G:T
Gene:: CNTN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.471163/35455 (ALFA)
G=0.279904/117 (SGDP_PRJ)
A=0.328603/602 (Korea1K)
A=0.333447/977 (KOREAN)
A=0.352113/5901 (TOMMO)
G=0.382353/13 (Siberian)
A=0.397196/85 (Vietnamese)
G=0.425/17 (GENOME_DK)
G=0.42611/112787 (TOPMED)
G=0.439815/95 (Qatari)
G=0.447674/847 (HapMap)
G=0.450182/1735 (ALSPAC)
G=0.457659/1697 (TWINSUK)
G=0.459598/2059 (Estonian)
G=0.46065/2307 (1000Genomes)
G=0.460674/246 (MGP)
G=0.481964/481 (GoNL)
A=0.488333/293 (NorthernSweden)
HGVS:: NC_000012.12:g.41070201G>A, NC_000012.12:g.41070201G>T, NC_000012.11:g.41464003G>A, NC_000012.11:g.41464003G>T, NG_012058.2:g.382646G>A, NG_012058.2:g.382646G>T, NM_001843.4:c.*166G>A, NM_001843.4:c.*166G>T, NM_001843.3:c.*166G>A, NM_001843.3:c.*166G>T, NM_175038.2:c.*166G>A, NM_175038.2:c.*166G>T, XM_011537926.4:c.*166G>A, XM_011537926.4:c.*166G>T, XM_011537926.3:c.*166G>A, XM_011537926.3:c.*166G>T, XM_011537926.2:c.*166G>A, XM_011537926.2:c.*166G>T, XM_011537926.1:c.*166G>A, XM_011537926.1:c.*166G>T, XM_011537927.3:c.*166G>A, XM_011537927.3:c.*166G>T, XM_011537927.2:c.*166G>A, XM_011537927.2:c.*166G>T, XM_011537927.1:c.*166G>A, XM_011537927.1:c.*166G>T, XM_006719241.3:c.*166G>A, XM_006719241.3:c.*166G>T, XM_006719241.2:c.*166G>A, XM_006719241.2:c.*166G>T, XM_006719241.1:c.*166G>A, XM_006719241.1:c.*166G>T, XM_005268651.3:c.*166G>A, XM_005268651.3:c.*166G>T, XM_005268651.2:c.*166G>A, XM_005268651.2:c.*166G>T, XM_005268651.1:c.*166G>A, XM_005268651.1:c.*166G>T

Select item 9351057.

rs935105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:40936809 (GRCh38)
12:41330611 (GRCh37)
Canonical SPDI:: NC_000012.12:40936808:T:C
Gene:: CNTN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.125505/11175 (ALFA)
C=0.038396/644 (TOMMO)
C=0.052019/152 (KOREAN)
C=0.091205/56 (Vietnamese)
C=0.102679/460 (Estonian)
C=0.106481/23 (Qatari)
C=0.107143/6 (PRJEB36033)
C=0.111024/556 (1000Genomes)
C=0.114758/13913 (ExAC)
C=0.11523/115 (GoNL)
C=0.115845/29040 (GnomAD_exomes)
C=0.12/72 (NorthernSweden)
C=0.125/41 (HapMap)
C=0.126103/486 (ALSPAC)
C=0.126214/468 (TWINSUK)
C=0.132959/71 (MGP)
C=0.135536/35875 (TOPMED)
C=0.137552/1789 (GoESP)
C=0.139201/19502 (GnomAD)
C=0.174342/53 (FINRISK)
C=0.2/8 (GENOME_DK)
T=0.459184/45 (SGDP_PRJ)
T=0.5/1 (Siberian)
HGVS:: NC_000012.12:g.40936809T>C, NC_000012.11:g.41330611T>C, NG_012058.2:g.249254T>C, NM_001843.4:c.1014T>C, NM_001843.3:c.1014T>C, NM_175038.2:c.981T>C, NM_001256063.2:c.1014T>C, NM_001256063.1:c.1014T>C, NM_001256064.2:c.1014T>C, NM_001256064.1:c.1014T>C, XM_011537926.4:c.1014T>C, XM_011537926.3:c.1014T>C, XM_011537926.2:c.1014T>C, XM_011537926.1:c.1014T>C, XM_011537927.3:c.1014T>C, XM_011537927.2:c.1014T>C, XM_011537927.1:c.1014T>C, XM_006719241.3:c.1014T>C, XM_006719241.2:c.1014T>C, XM_006719241.1:c.1014T>C, XM_017018827.3:c.1014T>C, XM_017018827.2:c.1014T>C, XM_017018827.1:c.1014T>C, XM_017018826.3:c.1014T>C, XM_017018826.2:c.1014T>C, XM_017018826.1:c.1014T>C, XM_005268651.3:c.1014T>C, XM_005268651.2:c.1014T>C, XM_005268651.1:c.1014T>C, XM_024448843.2:c.1014T>C, XM_024448843.1:c.1014T>C

PubMed LitVar

Select item 10560198.

rs1056019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:40943633 (GRCh38)
12:41337435 (GRCh37)
Canonical SPDI:: NC_000012.12:40943632:C:T
Gene:: CNTN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.367928/87533 (ALFA)
C=0.142857/6 (PRJEB36033)
C=0.236842/72 (FINRISK)
C=0.272523/121 (SGDP_PRJ)
C=0.291667/63 (Qatari)
C=0.3125/1400 (Estonian)
C=0.318182/14 (Siberian)
C=0.355805/190 (MGP)
C=0.36741/1416 (ALSPAC)
C=0.374595/1389 (TWINSUK)
C=0.374719/52391 (GnomAD)
C=0.378422/4921 (GoESP)
C=0.379148/94765 (GnomAD_exomes)
C=0.380749/46063 (ExAC)
C=0.382281/101186 (TOPMED)
C=0.4/16 (GENOME_DK)
C=0.401667/241 (NorthernSweden)
C=0.402806/402 (GoNL)
C=0.420831/2108 (1000Genomes)
C=0.421444/794 (HapMap)
C=0.434071/902 (HGDP_Stanford)
T=0.436681/800 (Korea1K)
T=0.438567/1285 (KOREAN)
T=0.440657/349 (PRJEB37584)
T=0.451129/7561 (TOMMO)
T=0.471545/290 (Vietnamese)
HGVS:: NC_000012.12:g.40943633C>T, NC_000012.11:g.41337435C>T, NG_012058.2:g.256078C>T, NM_001843.4:c.1416C>T, NM_001843.3:c.1416C>T, NM_175038.2:c.1383C>T, NM_001256063.2:c.1416C>T, NM_001256063.1:c.1416C>T, NM_001256064.2:c.1416C>T, NM_001256064.1:c.1416C>T, XM_011537926.4:c.1416C>T, XM_011537926.3:c.1416C>T, XM_011537926.2:c.1416C>T, XM_011537926.1:c.1416C>T, XM_011537927.3:c.1416C>T, XM_011537927.2:c.1416C>T, XM_011537927.1:c.1416C>T, XM_006719241.3:c.1416C>T, XM_006719241.2:c.1416C>T, XM_006719241.1:c.1416C>T, XM_017018827.3:c.1416C>T, XM_017018827.2:c.1416C>T, XM_017018827.1:c.1416C>T, XM_017018826.3:c.1416C>T, XM_017018826.2:c.1416C>T, XM_017018826.1:c.1416C>T, XM_005268651.3:c.1416C>T, XM_005268651.2:c.1416C>T, XM_005268651.1:c.1416C>T, XM_024448843.2:c.1416C>T, XM_024448843.1:c.1416C>T

PubMed LitVar

Select item 13725439.

rs1372543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:40918345 (GRCh38)
12:41312147 (GRCh37)
Canonical SPDI:: NC_000012.12:40918344:G:A
Gene:: CNTN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.060032/1134 (ALFA)
A=0.016667/4 (HapMap)
A=0.026969/100 (TWINSUK)
A=0.033731/130 (ALSPAC)
A=0.044088/44 (GoNL)
A=0.058333/35 (NorthernSweden)
A=0.060778/8512 (GnomAD)
A=0.06692/17713 (TOPMED)
A=0.074074/16 (Qatari)
A=0.085259/427 (1000Genomes)
A=0.092188/413 (Estonian)
A=0.102804/22 (Vietnamese)
A=0.132642/243 (Korea1K)
A=0.139748/2342 (TOMMO)
A=0.149488/438 (KOREAN)
G=0.433333/39 (SGDP_PRJ)
G=0.5/8 (Siberian)
HGVS:: NC_000012.12:g.40918345G>A, NC_000012.11:g.41312147G>A, NG_012058.2:g.230790G>A

Select item 144219310.

rs1442193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:40937810 (GRCh38)
12:41331612 (GRCh37)
Canonical SPDI:: NC_000012.12:40937809:T:C,NC_000012.12:40937809:T:G
Gene:: CNTN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.353855/39740 (ALFA)
T=0.111111/2 (PRJEB36033)
T=0.25/115 (SGDP_PRJ)
T=0.273148/59 (Qatari)
T=0.305038/42709 (GnomAD)
T=0.309354/81883 (TOPMED)
T=0.313393/1404 (Estonian)
T=0.318182/14 (Siberian)
T=0.345721/1731 (1000Genomes)
T=0.366373/1412 (ALSPAC)
T=0.374865/1390 (TWINSUK)
T=0.378706/562 (HapMap)
T=0.382239/792 (HGDP_Stanford)
T=0.4/16 (GENOME_DK)
T=0.401667/241 (NorthernSweden)
T=0.402806/402 (GoNL)
T=0.425094/227 (MGP)
C=0.437227/801 (Korea1K)
C=0.439932/1289 (KOREAN)
C=0.45127/7563 (TOMMO)
T=0.495238/104 (Vietnamese)
HGVS:: NC_000012.12:g.40937810T>C, NC_000012.12:g.40937810T>G, NC_000012.11:g.41331612T>C, NC_000012.11:g.41331612T>G, NG_012058.2:g.250255T>C, NG_012058.2:g.250255T>G

Select item 199260711.

rs1992607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:40692833 (GRCh38)
12:41086635 (GRCh37)
Canonical SPDI:: NC_000012.12:40692832:A:C,NC_000012.12:40692832:A:G,NC_000012.12:40692832:A:T
Gene:: CNTN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.114753/2542 (ALFA)
C=0./0 (KOREAN)
A=0./0 (Korea1K)
A=0./0 (Vietnamese)
A=0.000212/4 (TOMMO)
A=0.05/2 (GENOME_DK)
A=0.055556/31 (SGDP_PRJ)
A=0.060185/13 (Qatari)
A=0.071667/43 (NorthernSweden)
A=0.080288/145 (HapMap)
A=0.083385/418 (1000Genomes)
A=0.089286/5 (Siberian)
A=0.108199/417 (ALSPAC)
A=0.111111/412 (TWINSUK)
A=0.111607/500 (Estonian)
A=0.111682/29561 (TOPMED)
A=0.115382/16172 (GnomAD)
HGVS:: NC_000012.12:g.40692833A>C, NC_000012.12:g.40692833A>G, NC_000012.12:g.40692833A>T, NC_000012.11:g.41086635A>C, NC_000012.11:g.41086635A>G, NC_000012.11:g.41086635A>T, NG_012058.2:g.5278A>C, NG_012058.2:g.5278A>G, NG_012058.2:g.5278A>T

Select item 222992912.

rs2229929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:40980997 (GRCh38)
12:41374799 (GRCh37)
Canonical SPDI:: NC_000012.12:40980996:T:C
Gene:: CNTN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.013693/806 (ALFA)
C=0./0 (TWINSUK)
C=0.000035/1 (TOMMO)
C=0.000259/1 (ALSPAC)
C=0.000684/2 (KOREAN)
C=0.001092/2 (Korea1K)
C=0.00463/1 (Qatari)
C=0.005618/3 (MGP)
C=0.010036/2518 (GnomAD_exomes)
C=0.012062/1463 (ExAC)
C=0.035759/179 (1000Genomes)
C=0.037634/5277 (GnomAD)
C=0.039337/10412 (TOPMED)
C=0.042442/552 (GoESP)
T=0.45/9 (SGDP_PRJ)
HGVS:: NC_000012.12:g.40980997T>C, NC_000012.11:g.41374799T>C, NG_012058.2:g.293442T>C, NM_001843.4:c.1893T>C, NM_001843.3:c.1893T>C, NM_175038.2:c.1860T>C, XM_011537926.4:c.1893T>C, XM_011537926.3:c.1893T>C, XM_011537926.2:c.1893T>C, XM_011537926.1:c.1893T>C, XM_011537927.3:c.1893T>C, XM_011537927.2:c.1893T>C, XM_011537927.1:c.1893T>C, XM_006719241.3:c.1893T>C, XM_006719241.2:c.1893T>C, XM_006719241.1:c.1893T>C, XM_005268651.3:c.1893T>C, XM_005268651.2:c.1893T>C, XM_005268651.1:c.1893T>C

Select item 222993013.

rs2229930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:40981060 (GRCh38)
12:41374862 (GRCh37)
Canonical SPDI:: NC_000012.12:40981059:A:G
Gene:: CNTN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.043915/3276 (ALFA)
G=0.004367/8 (Korea1K)
G=0.004449/13 (KOREAN)
G=0.005662/95 (TOMMO)
G=0.025/1 (GENOME_DK)
G=0.029605/9 (FINRISK)
G=0.029825/149 (1000Genomes)
G=0.032219/4520 (GnomAD)
G=0.033976/8993 (TOPMED)
G=0.035368/460 (GoESP)
G=0.037453/20 (MGP)
G=0.037883/146 (ALSPAC)
G=0.039901/10004 (GnomAD_exomes)
G=0.040639/4926 (ExAC)
G=0.043086/43 (GoNL)
G=0.04315/160 (TWINSUK)
G=0.045312/203 (Estonian)
G=0.048333/29 (NorthernSweden)
G=0.12963/28 (Qatari)
A=0.421053/16 (SGDP_PRJ)
A=0.5/1 (Siberian)
HGVS:: NC_000012.12:g.40981060A>G, NC_000012.11:g.41374862A>G, NG_012058.2:g.293505A>G, NM_001843.4:c.1956A>G, NM_001843.3:c.1956A>G, NM_175038.2:c.1923A>G, XM_011537926.4:c.1956A>G, XM_011537926.3:c.1956A>G, XM_011537926.2:c.1956A>G, XM_011537926.1:c.1956A>G, XM_011537927.3:c.1956A>G, XM_011537927.2:c.1956A>G, XM_011537927.1:c.1956A>G, XM_006719241.3:c.1956A>G, XM_006719241.2:c.1956A>G, XM_006719241.1:c.1956A>G, XM_005268651.3:c.1956A>G, XM_005268651.2:c.1956A>G, XM_005268651.1:c.1956A>G

Select item 228952214.

rs2289522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:40936729 (GRCh38)
12:41330531 (GRCh37)
Canonical SPDI:: NC_000012.12:40936728:T:C
Gene:: CNTN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.475693/33994 (ALFA)
T=0.340206/132 (SGDP_PRJ)
T=0.35/14 (Siberian)
C=0.353166/647 (Korea1K)
C=0.36041/1056 (KOREAN)
C=0.375/15 (GENOME_DK)
C=0.377026/6319 (TOMMO)
C=0.377451/231 (Vietnamese)
C=0.43/258 (NorthernSweden)
C=0.438878/438 (GoNL)
T=0.440789/134 (FINRISK)
C=0.455502/1689 (TWINSUK)
T=0.461161/2066 (Estonian)
C=0.468864/1807 (ALSPAC)
C=0.470221/979 (HGDP_Stanford)
C=0.476852/103 (Qatari)
C=0.477528/255 (MGP)
T=0.484927/67819 (GnomAD)
T=0.487423/129016 (TOPMED)
T=0.48971/2808 (GoESP)
C=0.496292/937 (HapMap)
T=0.5/10 (PRJEB36033)
T=0.5/2504 (1000Genomes)
HGVS:: NC_000012.12:g.40936729T>C, NC_000012.11:g.41330531T>C, NG_012058.2:g.249174T>C

Select item 230481815.

rs2304818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:40922579 (GRCh38)
12:41316381 (GRCh37)
Canonical SPDI:: NC_000012.12:40922578:A:C,NC_000012.12:40922578:A:G
Gene:: CNTN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.038427/2505 (ALFA)
C=0.013109/7 (MGP)
C=0.026969/100 (TWINSUK)
C=0.03425/132 (ALSPAC)
C=0.044088/44 (GoNL)
C=0.054301/7611 (GnomAD)
C=0.058333/35 (NorthernSweden)
C=0.05991/107 (HapMap)
C=0.060535/16023 (TOPMED)
C=0.074074/16 (Qatari)
C=0.076359/382 (1000Genomes)
C=0.078947/6 (PRJEB36033)
C=0.092188/413 (Estonian)
C=0.097222/21 (Vietnamese)
C=0.102207/213 (HGDP_Stanford)
C=0.133188/244 (Korea1K)
C=0.139854/2344 (TOMMO)
C=0.150512/441 (KOREAN)
A=0.430233/37 (SGDP_PRJ)
A=0.5/8 (Siberian)
HGVS:: NC_000012.12:g.40922579A>C, NC_000012.12:g.40922579A>G, NC_000012.11:g.41316381A>C, NC_000012.11:g.41316381A>G, NG_012058.2:g.235024A>C, NG_012058.2:g.235024A>G

Select item 230481916.

rs2304819 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:40910023 (GRCh38)
12:41303825 (GRCh37)
Canonical SPDI:: NC_000012.12:40910022:A:C,NC_000012.12:40910022:A:T
Gene:: CNTN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.288927/13026 (ALFA)
C=0.186637/3128 (TOMMO)
C=0.194539/570 (KOREAN)
C=0.205786/377 (Korea1K)
C=0.215178/1078 (1000Genomes)
C=0.222222/48 (Vietnamese)
C=0.224591/59447 (TOPMED)
C=0.226744/429 (HapMap)
C=0.234381/32810 (GnomAD)
C=0.239385/3112 (GoESP)
C=0.27023/67223 (GnomAD_exomes)
C=0.274979/33190 (ExAC)
C=0.286667/172 (NorthernSweden)
C=0.287037/62 (Qatari)
C=0.295591/295 (GoNL)
C=0.298884/1339 (Estonian)
C=0.3/12 (GENOME_DK)
C=0.316479/169 (MGP)
C=0.318501/1181 (TWINSUK)
C=0.326414/1258 (ALSPAC)
A=0.399123/91 (SGDP_PRJ)
A=0.4/8 (Siberian)
HGVS:: NC_000012.12:g.40910023A>C, NC_000012.12:g.40910023A>T, NC_000012.11:g.41303825A>C, NC_000012.11:g.41303825A>T, NG_012058.2:g.222468A>C, NG_012058.2:g.222468A>T

Select item 289710117.

rs2897101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:40924818 (GRCh38)
12:41318620 (GRCh37)
Canonical SPDI:: NC_000012.12:40924817:T:C
Gene:: CNTN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.397103/8799 (ALFA)
C=0.007491/4 (MGP)
C=0.198635/582 (KOREAN)
C=0.206878/379 (Korea1K)
C=0.212804/3567 (TOMMO)
C=0.228972/49 (Vietnamese)
T=0.318182/7 (Siberian)
C=0.339944/1702 (1000Genomes)
C=0.350265/662 (HapMap)
C=0.365/219 (NorthernSweden)
C=0.36698/97136 (TOPMED)
T=0.370504/103 (SGDP_PRJ)
C=0.371362/50148 (GnomAD)
C=0.375/15 (GENOME_DK)
C=0.38477/384 (GoNL)
C=0.402778/87 (Qatari)
C=0.42567/1907 (Estonian)
HGVS:: NC_000012.12:g.40924818T>C, NC_000012.11:g.41318620T>C, NG_012058.2:g.237263T>C

Select item 379425018.

rs3794250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:41028252 (GRCh38)
12:41422054 (GRCh37)
Canonical SPDI:: NC_000012.12:41028251:G:A
Gene:: CNTN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.24407/4610 (ALFA)
A=0.183948/3083 (TOMMO)
A=0.183959/539 (KOREAN)
A=0.194323/356 (Korea1K)
A=0.205607/44 (Vietnamese)
A=0.212963/46 (Qatari)
A=0.21877/1096 (1000Genomes)
A=0.234875/62169 (TOPMED)
A=0.237104/33150 (GnomAD)
A=0.238333/143 (NorthernSweden)
A=0.24375/1092 (Estonian)
A=0.259519/259 (GoNL)
A=0.275/11 (GENOME_DK)
A=0.280475/1040 (TWINSUK)
A=0.282045/1087 (ALSPAC)
G=0.40678/96 (SGDP_PRJ)
G=0.458333/11 (Siberian)
HGVS:: NC_000012.12:g.41028252G>A, NC_000012.11:g.41422054G>A, NG_012058.2:g.340697G>A

Select item 381625119.

rs3816251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:40924367 (GRCh38)
12:41318169 (GRCh37)
Canonical SPDI:: NC_000012.12:40924366:G:C,NC_000012.12:40924366:G:T
Gene:: CNTN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.345363/3493 (ALFA)
T=0.32243/69 (Vietnamese)
T=0.325961/5463 (TOMMO)
G=0.337766/127 (SGDP_PRJ)
T=0.338974/621 (Korea1K)
T=0.343345/1006 (KOREAN)
G=0.361111/13 (Siberian)
T=0.375/15 (GENOME_DK)
T=0.425/255 (NorthernSweden)
T=0.428858/428 (GoNL)
T=0.43959/1630 (TWINSUK)
T=0.457966/1765 (ALSPAC)
G=0.471205/2111 (Estonian)
G=0.483384/127947 (TOPMED)
G=0.493129/2470 (1000Genomes)
G=0.5/108 (Qatari)
HGVS:: NC_000012.12:g.40924367G>C, NC_000012.12:g.40924367G>T, NC_000012.11:g.41318169G>C, NC_000012.11:g.41318169G>T, NG_012058.2:g.236812G>C, NG_012058.2:g.236812G>T

Select item 440837020.

rs4408370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:40929859 (GRCh38)
12:41323661 (GRCh37)
Canonical SPDI:: NC_000012.12:40929858:G:A,NC_000012.12:40929858:G:C,NC_000012.12:40929858:G:T
Gene:: CNTN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000008/1 (ExAC)
T=0.000021/3 (GnomAD)
T=0.000312/2 (1000Genomes)
A=0.009547/8 (HapMap)
HGVS:: NC_000012.12:g.40929859G>A, NC_000012.12:g.40929859G>C, NC_000012.12:g.40929859G>T, NC_000012.11:g.41323661G>A, NC_000012.11:g.41323661G>C, NC_000012.11:g.41323661G>T, NG_012058.2:g.242304G>A, NG_012058.2:g.242304G>C, NG_012058.2:g.242304G>T, NM_001843.4:c.560G>A, NM_001843.4:c.560G>C, NM_001843.4:c.560G>T, NM_001843.3:c.560G>A, NM_001843.3:c.560G>C, NM_001843.3:c.560G>T, NM_175038.2:c.527G>A, NM_175038.2:c.527G>C, NM_175038.2:c.527G>T, NM_001256063.2:c.560G>A, NM_001256063.2:c.560G>C, NM_001256063.2:c.560G>T, NM_001256063.1:c.560G>A, NM_001256063.1:c.560G>C, NM_001256063.1:c.560G>T, NM_001256064.2:c.560G>A, NM_001256064.2:c.560G>C, NM_001256064.2:c.560G>T, NM_001256064.1:c.560G>A, NM_001256064.1:c.560G>C, NM_001256064.1:c.560G>T, XM_011537926.4:c.560G>A, XM_011537926.4:c.560G>C, XM_011537926.4:c.560G>T, XM_011537926.3:c.560G>A, XM_011537926.3:c.560G>C, XM_011537926.3:c.560G>T, XM_011537926.2:c.560G>A, XM_011537926.2:c.560G>C, XM_011537926.2:c.560G>T, XM_011537926.1:c.560G>A, XM_011537926.1:c.560G>C, XM_011537926.1:c.560G>T, XM_011537927.3:c.560G>A, XM_011537927.3:c.560G>C, XM_011537927.3:c.560G>T, XM_011537927.2:c.560G>A, XM_011537927.2:c.560G>C, XM_011537927.2:c.560G>T, XM_011537927.1:c.560G>A, XM_011537927.1:c.560G>C, XM_011537927.1:c.560G>T, XM_006719241.3:c.560G>A, XM_006719241.3:c.560G>C, XM_006719241.3:c.560G>T, XM_006719241.2:c.560G>A, XM_006719241.2:c.560G>C, XM_006719241.2:c.560G>T, XM_006719241.1:c.560G>A, XM_006719241.1:c.560G>C, XM_006719241.1:c.560G>T, XM_017018827.3:c.560G>A, XM_017018827.3:c.560G>C, XM_017018827.3:c.560G>T, XM_017018827.2:c.560G>A, XM_017018827.2:c.560G>C, XM_017018827.2:c.560G>T, XM_017018827.1:c.560G>A, XM_017018827.1:c.560G>C, XM_017018827.1:c.560G>T, XM_017018826.3:c.560G>A, XM_017018826.3:c.560G>C, XM_017018826.3:c.560G>T, XM_017018826.2:c.560G>A, XM_017018826.2:c.560G>C, XM_017018826.2:c.560G>T, XM_017018826.1:c.560G>A, XM_017018826.1:c.560G>C, XM_017018826.1:c.560G>T, XM_005268651.3:c.560G>A, XM_005268651.3:c.560G>C, XM_005268651.3:c.560G>T, XM_005268651.2:c.560G>A, XM_005268651.2:c.560G>C, XM_005268651.2:c.560G>T, XM_005268651.1:c.560G>A, XM_005268651.1:c.560G>C, XM_005268651.1:c.560G>T, XM_024448843.2:c.560G>A, XM_024448843.2:c.560G>C, XM_024448843.2:c.560G>T, XM_024448843.1:c.560G>A, XM_024448843.1:c.560G>C, XM_024448843.1:c.560G>T, NP_001834.2:p.Arg187Gln, NP_001834.2:p.Arg187Pro, NP_001834.2:p.Arg187Leu, NP_778203.1:p.Arg176Gln, NP_778203.1:p.Arg176Pro, NP_778203.1:p.Arg176Leu, NP_001242992.1:p.Arg187Gln, NP_001242992.1:p.Arg187Pro, NP_001242992.1:p.Arg187Leu, NP_001242993.1:p.Arg187Gln, NP_001242993.1:p.Arg187Pro, NP_001242993.1:p.Arg187Leu, XP_011536228.1:p.Arg187Gln, XP_011536228.1:p.Arg187Pro, XP_011536228.1:p.Arg187Leu, XP_011536229.1:p.Arg187Gln, XP_011536229.1:p.Arg187Pro, XP_011536229.1:p.Arg187Leu, XP_006719304.1:p.Arg187Gln, XP_006719304.1:p.Arg187Pro, XP_006719304.1:p.Arg187Leu, XP_016874316.1:p.Arg187Gln, XP_016874316.1:p.Arg187Pro, XP_016874316.1:p.Arg187Leu, XP_016874315.1:p.Arg187Gln, XP_016874315.1:p.Arg187Pro, XP_016874315.1:p.Arg187Leu, XP_005268708.1:p.Arg187Gln, XP_005268708.1:p.Arg187Pro, XP_005268708.1:p.Arg187Leu, XP_024304611.1:p.Arg187Gln, XP_024304611.1:p.Arg187Pro, XP_024304611.1:p.Arg187Leu

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