BEST4 - SNP

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Select item 796802511.

rs79680251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:44787454 (GRCh38)
1:45253126 (GRCh37)
Canonical SPDI:: NC_000001.11:44787453:G:C
Gene:: BEST4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002713/299 (ALFA)
C=0./0 (TWINSUK)
C=0.000259/1 (ALSPAC)
C=0.004065/1022 (GnomAD_exomes)
C=0.004942/600 (ExAC)
C=0.018445/2586 (GnomAD)
C=0.018684/243 (GoESP)
C=0.019279/5103 (TOPMED)
C=0.021861/109 (1000Genomes)
C=0.027461/2161 (PAGE_STUDY)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000001.11:g.44787454G>C, NC_000001.10:g.45253126G>C, NM_153274.3:c.165C>G, NM_153274.2:c.165C>G, XM_017001023.2:c.165C>G, XM_017001023.1:c.165C>G, XR_007058647.1:n.630C>G, XM_047417826.1:c.165C>G, XM_024446367.1:c.165C>G, XM_047417821.1:c.165C>G, XM_047417823.1:c.165C>G

Select item 44834482.

rs4483448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:44783110 (GRCh38)
1:45248782 (GRCh37)
Canonical SPDI:: NC_000001.11:44783109:A:C
Gene:: BEST4 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.44783110A>C, NC_000001.10:g.45248782A>C

Select item 45422483.

rs4542248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:44783250 (GRCh38)
1:45248922 (GRCh37)
Canonical SPDI:: NC_000001.11:44783249:C:A,NC_000001.11:44783249:C:G,NC_000001.11:44783249:C:T
Gene:: BEST4 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.415551/7509 (ALFA)
G=0.291667/63 (Qatari)
C=0.325/13 (Siberian)
G=0.363808/1349 (TWINSUK)
G=0.366733/366 (GoNL)
C=0.369565/136 (SGDP_PRJ)
G=0.383238/1477 (ALSPAC)
G=0.388889/84 (Vietnamese)
G=0.4/16 (GENOME_DK)
G=0.429038/113562 (TOPMED)
G=0.430668/2157 (1000Genomes)
G=0.431302/60409 (GnomAD)
G=0.444816/266 (NorthernSweden)
G=0.456473/2045 (Estonian)
G=0.460117/7711 (TOMMO)
G=0.465188/1363 (KOREAN)
G=0.480349/880 (Korea1K)
HGVS:: NC_000001.11:g.44783250C>A, NC_000001.11:g.44783250C>G, NC_000001.11:g.44783250C>T, NC_000001.10:g.45248922C>A, NC_000001.10:g.45248922C>G, NC_000001.10:g.45248922C>T

Select item 46608244.

rs4660824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:44794594 (GRCh38)
1:45260266 (GRCh37)
Canonical SPDI:: NC_000001.11:44794593:G:A,NC_000001.11:44794593:G:C
Gene:: BEST4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.220835/2741 (ALFA)
A=0.012836/215 (TOMMO)
A=0.014208/26 (Korea1K)
A=0.028425/83 (KOREAN)
A=0.20737/1039 (1000Genomes)
A=0.291526/77164 (TOPMED)
A=0.313681/43308 (GnomAD)
G=0.368132/67 (SGDP_PRJ)
A=0.425926/92 (Qatari)
A=0.428333/257 (NorthernSweden)
G=0.428571/12 (Siberian)
A=0.434466/1611 (TWINSUK)
A=0.43617/1681 (ALSPAC)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000001.11:g.44794594G>A, NC_000001.11:g.44794594G>C, NC_000001.10:g.45260266G>A, NC_000001.10:g.45260266G>C

Select item 64295485.

rs6429548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:44787956 (GRCh38)
1:45253628 (GRCh37)
Canonical SPDI:: NC_000001.11:44787955:T:C,NC_000001.11:44787955:T:G
Gene:: BEST4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.393526/24168 (ALFA)
C=0.291667/63 (Qatari)
C=0.315789/24 (PRJEB36033)
T=0.325/13 (Siberian)
C=0.364078/1350 (TWINSUK)
C=0.364729/364 (GoNL)
T=0.368132/134 (SGDP_PRJ)
C=0.382979/1476 (ALSPAC)
C=0.395238/83 (Vietnamese)
C=0.397137/749 (HapMap)
C=0.4/16 (GENOME_DK)
C=0.434146/114914 (TOPMED)
C=0.435041/2179 (1000Genomes)
C=0.43666/910 (HGDP_Stanford)
C=0.437089/61175 (GnomAD)
C=0.445/267 (NorthernSweden)
C=0.45692/2047 (Estonian)
C=0.459268/7697 (TOMMO)
C=0.464505/1361 (KOREAN)
C=0.479803/879 (Korea1K)
HGVS:: NC_000001.11:g.44787956T>C, NC_000001.11:g.44787956T>G, NC_000001.10:g.45253628T>C, NC_000001.10:g.45253628T>G, NM_153274.3:c.-251A>G, NM_153274.3:c.-251A>C, XM_017001023.2:c.-251A>G, XM_017001023.2:c.-251A>C, XM_017001023.1:c.-251A>G, XM_017001023.1:c.-251A>C, XR_007058647.1:n.215A>G, XR_007058647.1:n.215A>C, XM_047417826.1:c.-251A>G, XM_047417826.1:c.-251A>C

Select item 66909136.

rs6690913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44788128 (GRCh38)
1:45253800 (GRCh37)
Canonical SPDI:: NC_000001.11:44788127:C:T
Gene:: BEST4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.016194/257 (ALFA)
T=0./0 (PRJEB36033)
T=0./0 (TWINSUK)
T=0.000259/1 (ALSPAC)
T=0.003839/8 (HGDP_Stanford)
T=0.01842/2584 (GnomAD)
T=0.019264/5099 (TOPMED)
T=0.021861/109 (1000Genomes)
T=0.032799/45 (HapMap)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000001.11:g.44788128C>T, NC_000001.10:g.45253800C>T, NM_153274.3:c.-423G>A, XM_017001023.2:c.-423G>A, XM_017001023.1:c.-423G>A, XR_007058647.1:n.43G>A, XM_047417826.1:c.-423G>A

Select item 66988477.

rs6698847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:44792055 (GRCh38)
1:45257727 (GRCh37)
Canonical SPDI:: NC_000001.11:44792054:A:C,NC_000001.11:44792054:A:G,NC_000001.11:44792054:A:T
Gene:: BEST4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.282226/3363 (ALFA)
T=0./0 (KOREAN)
C=0.300926/65 (Qatari)
A=0.343915/130 (SGDP_PRJ)
C=0.346693/346 (GoNL)
C=0.44/264 (NorthernSweden)
C=0.442947/61963 (GnomAD)
C=0.449862/119074 (TOPMED)
A=0.458515/840 (Korea1K)
C=0.462523/2316 (1000Genomes)
A=0.488853/8193 (TOMMO)
HGVS:: NC_000001.11:g.44792055A>C, NC_000001.11:g.44792055A>G, NC_000001.11:g.44792055A>T, NC_000001.10:g.45257727A>C, NC_000001.10:g.45257727A>G, NC_000001.10:g.45257727A>T

Select item 75158798.

rs7515879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44781682 (GRCh38)
1:45247354 (GRCh37)
Canonical SPDI:: NC_000001.11:44781681:G:A
Gene:: BEST4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003999/511 (ALFA)
A=0.018085/2535 (GnomAD)
A=0.019026/5036 (TOPMED)
A=0.021861/109 (1000Genomes)
A=0.038321/42 (HapMap)
A=0.108626/68 (Chileans)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.44781682G>A, NC_000001.10:g.45247354G>A

Select item 112110349.

rs11211034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:44794138 (GRCh38)
1:45259810 (GRCh37)
Canonical SPDI:: NC_000001.11:44794137:G:A,NC_000001.11:44794137:G:C,NC_000001.11:44794137:G:T
Gene:: BEST4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.409192/7728 (ALFA)
T=0./0 (KOREAN)
A=0.300926/65 (Qatari)
A=0.346818/1286 (TWINSUK)
A=0.347695/347 (GoNL)
G=0.349462/130 (SGDP_PRJ)
G=0.35/14 (Siberian)
A=0.361183/1392 (ALSPAC)
A=0.375/15 (GENOME_DK)
A=0.404602/1811 (Estonian)
A=0.426141/57685 (GnomAD)
A=0.437255/115737 (TOPMED)
A=0.441667/265 (NorthernSweden)
A=0.448626/2247 (1000Genomes)
G=0.460153/843 (Korea1K)
G=0.494579/8270 (TOMMO)
HGVS:: NC_000001.11:g.44794138G>A, NC_000001.11:g.44794138G>C, NC_000001.11:g.44794138G>T, NC_000001.10:g.45259810G>A, NC_000001.10:g.45259810G>C, NC_000001.10:g.45259810G>T

Select item 1158137210.

rs11581372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:44785968 (GRCh38)
1:45251640 (GRCh37)
Canonical SPDI:: NC_000001.11:44785967:C:G
Gene:: BEST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0./0 (HapMap)
HGVS:: NC_000001.11:g.44785968C>G, NC_000001.10:g.45251640C>G

Select item 1180993111.

rs11809931 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:44781976 (GRCh38)
1:45247648 (GRCh37)
Canonical SPDI:: NC_000001.11:44781975:A:G
Gene:: BEST4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.183166/3460 (ALFA)
G=0.154309/154 (GoNL)
G=0.166667/36 (Qatari)
G=0.171652/24012 (GnomAD)
G=0.171975/45520 (TOPMED)
G=0.174218/646 (TWINSUK)
G=0.184743/712 (ALSPAC)
G=0.191287/958 (1000Genomes)
G=0.205/123 (NorthernSweden)
G=0.225/9 (GENOME_DK)
G=0.226339/1014 (Estonian)
G=0.237991/436 (Korea1K)
G=0.241638/708 (KOREAN)
G=0.245063/4107 (TOMMO)
A=0.406542/87 (SGDP_PRJ)
A=0.458333/11 (Siberian)
HGVS:: NC_000001.11:g.44781976A>G, NC_000001.10:g.45247648A>G, XM_017001023.2:c.*255T>C

Select item 1202675512.

rs12026755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:44794352 (GRCh38)
1:45260024 (GRCh37)
Canonical SPDI:: NC_000001.11:44794351:G:C
Gene:: BEST4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.44794352G>C, NC_000001.10:g.45260024G>C

Select item 1202833413.

rs12028334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44783234 (GRCh38)
1:45248906 (GRCh37)
Canonical SPDI:: NC_000001.11:44783233:C:T
Gene:: BEST4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.44783234C>T, NC_000001.10:g.45248906C>T

Select item 1203403714.

rs12034037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44794333 (GRCh38)
1:45260005 (GRCh37)
Canonical SPDI:: NC_000001.11:44794332:C:T
Gene:: BEST4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.44794333C>T, NC_000001.10:g.45260005C>T

Select item 1205723815.

rs12057238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:44792469 (GRCh38)
1:45258141 (GRCh37)
Canonical SPDI:: NC_000001.11:44792468:A:C
Gene:: BEST4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.178619/54975 (ALFA)
C=0.119048/25 (Vietnamese)
C=0.12037/26 (Qatari)
C=0.15/6 (GENOME_DK)
C=0.161543/599 (TWINSUK)
C=0.166667/10 (PRJEB36033)
C=0.171251/660 (ALSPAC)
C=0.175223/785 (Estonian)
C=0.187375/187 (GoNL)
C=0.195777/408 (HGDP_Stanford)
C=0.206494/159 (PRJEB37584)
C=0.208333/125 (NorthernSweden)
C=0.209346/3507 (TOMMO)
C=0.221868/418 (HapMap)
C=0.22363/653 (KOREAN)
C=0.224547/1125 (1000Genomes)
C=0.232241/32210 (GnomAD)
C=0.238086/63019 (TOPMED)
C=0.240984/441 (Korea1K)
C=0.266767/20994 (PAGE_STUDY)
A=0.428571/72 (SGDP_PRJ)
A=0.5/12 (Siberian)
HGVS:: NC_000001.11:g.44792469A>C, NC_000001.10:g.45258141A>C

Select item 1205741416.

rs12057414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:44789154 (GRCh38)
1:45254826 (GRCh37)
Canonical SPDI:: NC_000001.11:44789153:G:A,NC_000001.11:44789153:G:C
Gene:: BEST4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.19065/3495 (ALFA)
C=0.115741/25 (Qatari)
C=0.154448/691 (Estonian)
C=0.156149/579 (TWINSUK)
C=0.164764/635 (ALSPAC)
C=0.180361/180 (GoNL)
C=0.184964/3097 (TOMMO)
C=0.193333/116 (NorthernSweden)
C=0.217317/635 (KOREAN)
C=0.220487/1104 (1000Genomes)
C=0.226479/31405 (GnomAD)
C=0.232098/61434 (TOPMED)
C=0.236354/433 (Korea1K)
G=0.438272/71 (SGDP_PRJ)
G=0.5/10 (Siberian)
HGVS:: NC_000001.11:g.44789154G>A, NC_000001.11:g.44789154G>C, NC_000001.10:g.45254826G>A, NC_000001.10:g.45254826G>C

Select item 1205996417.

rs12059964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:44793623 (GRCh38)
1:45259295 (GRCh37)
Canonical SPDI:: NC_000001.11:44793622:T:A,NC_000001.11:44793622:T:C
Gene:: BEST4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.349495/51531 (ALFA)
C=0.177778/16 (PRJEB36033)
C=0.287037/62 (Qatari)
C=0.335491/1244 (TWINSUK)
C=0.339679/339 (GoNL)
C=0.349602/71695 (GENOGRAPHIC)
C=0.35314/1361 (ALSPAC)
T=0.367232/130 (SGDP_PRJ)
C=0.375/15 (GENOME_DK)
T=0.375/15 (Siberian)
C=0.386772/731 (HapMap)
C=0.4/84 (Vietnamese)
C=0.403125/1806 (Estonian)
C=0.411829/57647 (GnomAD)
C=0.415369/109944 (TOPMED)
C=0.418333/251 (NorthernSweden)
C=0.421768/2112 (1000Genomes)
C=0.464541/7786 (TOMMO)
C=0.465529/1364 (KOREAN)
C=0.477074/874 (Korea1K)
HGVS:: NC_000001.11:g.44793623T>A, NC_000001.11:g.44793623T>C, NC_000001.10:g.45259295T>A, NC_000001.10:g.45259295T>C

Select item 1206123018.

rs12061230 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:44794124 (GRCh38)
1:45259796 (GRCh37)
Canonical SPDI:: NC_000001.11:44794123:T:A,NC_000001.11:44794123:T:C
Gene:: BEST4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.044385/630 (ALFA)
C=0./0 (ALSPAC)
C=0.00027/1 (TWINSUK)
C=0.013889/3 (Qatari)
C=0.073529/10072 (GnomAD)
C=0.074641/374 (1000Genomes)
C=0.077343/20472 (TOPMED)
T=0.466667/14 (SGDP_PRJ)
HGVS:: NC_000001.11:g.44794124T>A, NC_000001.11:g.44794124T>C, NC_000001.10:g.45259796T>A, NC_000001.10:g.45259796T>C

Select item 1206237619.

rs12062376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44787251 (GRCh38)
1:45252923 (GRCh37)
Canonical SPDI:: NC_000001.11:44787250:G:A
Gene:: BEST4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.02791/12 (HapMap)
HGVS:: NC_000001.11:g.44787251G>A, NC_000001.10:g.45252923G>A

Select item 1207276720.

rs12072767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:44792560 (GRCh38)
1:45258232 (GRCh37)
Canonical SPDI:: NC_000001.11:44792559:C:A,NC_000001.11:44792559:C:G,NC_000001.11:44792559:C:T
Gene:: BEST4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.03686/840 (ALFA)
T=0.00539/20 (TWINSUK)
T=0.00582/17 (KOREAN)
T=0.00601/6 (GoNL)
T=0.00623/24 (ALSPAC)
T=0.00833/5 (NorthernSweden)
T=0.01696/76 (Estonian)
T=0.025/1 (GENOME_DK)
T=0.02643/443 (TOMMO)
T=0.02778/6 (Qatari)
T=0.11149/558 (1000Genomes)
T=0.19984/251 (HapMap)
C=0.43103/25 (SGDP_PRJ)
C=0.5/1 (Siberian)
HGVS:: NC_000001.11:g.44792560C>A, NC_000001.11:g.44792560C>G, NC_000001.11:g.44792560C>T, NC_000001.10:g.45258232C>A, NC_000001.10:g.45258232C>G, NC_000001.10:g.45258232C>T

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