CALML3-AS1 - SNP

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Select item 11314811.

rs1131481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:5526131 (GRCh38)
10:5568094 (GRCh37)
Canonical SPDI:: NC_000010.11:5526130:A:C
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,splice_donor_variant
Validated:: by cluster
HGVS:: NC_000010.11:g.5526131A>C, NC_000010.10:g.5568094A>C, NM_005185.4:c.*596A>C, NM_005185.3:c.*596A>C, NM_005185.2:c.*596A>C

Select item 11314822.

rs1131482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:5526004 (GRCh38)
10:5567967 (GRCh37)
Canonical SPDI:: NC_000010.11:5526003:G:A,NC_000010.11:5526003:G:T
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.231635/12348 (ALFA)
T=0.225/9 (GENOME_DK)
T=0.234469/234 (GoNL)
T=0.247016/952 (ALSPAC)
T=0.248112/920 (TWINSUK)
T=0.25/54 (Qatari)
T=0.254018/1138 (Estonian)
T=0.2603/139 (MGP)
T=0.270474/37882 (GnomAD)
T=0.274404/72632 (TOPMED)
T=0.308333/185 (NorthernSweden)
T=0.334166/1674 (1000Genomes)
G=0.348214/117 (SGDP_PRJ)
G=0.414148/6941 (TOMMO)
G=0.420852/771 (Korea1K)
G=0.426962/1251 (KOREAN)
G=0.462963/100 (Vietnamese)
G=0.5/16 (Siberian)
HGVS:: NC_000010.11:g.5526004G>A, NC_000010.11:g.5526004G>T, NC_000010.10:g.5567967G>A, NC_000010.10:g.5567967G>T, NM_005185.4:c.*469G>A, NM_005185.4:c.*469G>T, NM_005185.3:c.*469G>A, NM_005185.3:c.*469G>T, NM_005185.2:c.*469G>A, NM_005185.2:c.*469G>T

Select item 11428253.

rs1142825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:5525403 (GRCh38)
10:5567366 (GRCh37)
Canonical SPDI:: NC_000010.11:5525402:G:A
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.267666/50014 (ALFA)
A=0.175/7 (GENOME_DK)
A=0.226453/226 (GoNL)
A=0.23221/124 (MGP)
A=0.243643/939 (ALSPAC)
A=0.245146/909 (TWINSUK)
A=0.250112/1120 (Estonian)
A=0.305556/66 (Qatari)
A=0.306667/184 (NorthernSweden)
A=0.321467/4181 (GoESP)
A=0.322148/96 (FINRISK)
A=0.322558/80708 (GnomAD_exomes)
A=0.325501/38967 (ExAC)
A=0.339362/47548 (GnomAD)
A=0.347539/91990 (TOPMED)
G=0.354497/134 (SGDP_PRJ)
G=0.369281/226 (Vietnamese)
G=0.398654/6675 (TOMMO)
G=0.403084/732 (Korea1K)
A=0.417395/2090 (1000Genomes)
G=0.420423/1231 (KOREAN)
A=0.42389/802 (HapMap)
G=0.472222/17 (Siberian)
HGVS:: NC_000010.11:g.5525403G>A, NC_000010.10:g.5567366G>A, NM_005185.4:c.318G>A, NM_005185.3:c.318G>A, NM_005185.2:c.318G>A

LitVar

Select item 20713934.

rs2071393 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:5524731 (GRCh38)
10:5566694 (GRCh37)
Canonical SPDI:: NC_000010.11:5524730:T:C
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000882/14 (ALFA)
C=0.000927/130 (GnomAD)
C=0.001745/462 (TOPMED)
C=0.013429/67 (1000Genomes)
C=0.013889/3 (Qatari)
C=0.024021/27 (HapMap)
C=0.03271/7 (Vietnamese)
C=0.051536/151 (KOREAN)
C=0.055131/101 (Korea1K)
C=0.066494/1114 (TOMMO)
T=0.5/10 (SGDP_PRJ)
T=0.5/2 (Siberian)
HGVS:: NC_000010.11:g.5524731T>C, NC_000010.10:g.5566694T>C

Select item 22314135.

rs2231413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:5524306 (GRCh38)
10:5566269 (GRCh37)
Canonical SPDI:: NC_000010.11:5524305:G:T
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.444397/65953 (ALFA)
G=0.304878/125 (SGDP_PRJ)
G=0.391304/18 (Siberian)
G=0.4/16 (GENOME_DK)
T=0.402778/87 (Vietnamese)
G=0.433868/433 (GoNL)
T=0.434992/7290 (TOMMO)
G=0.435714/1952 (Estonian)
G=0.439815/95 (Qatari)
T=0.453603/831 (Korea1K)
T=0.47099/1380 (KOREAN)
G=0.472219/66140 (GnomAD)
G=0.475303/125808 (TOPMED)
G=0.487196/2440 (1000Genomes)
G=0.489384/922 (HapMap)
T=0.496667/298 (NorthernSweden)
HGVS:: NC_000010.11:g.5524306G>T, NC_000010.10:g.5566269G>T

Select item 22314146.

rs2231414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:5524310 (GRCh38)
10:5566273 (GRCh37)
Canonical SPDI:: NC_000010.11:5524309:T:C
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.010541/152 (ALFA)
C=0./0 (TWINSUK)
C=0.000259/1 (ALSPAC)
C=0.009259/2 (Qatari)
C=0.015654/2196 (GnomAD)
C=0.016396/82 (1000Genomes)
C=0.016914/4477 (TOPMED)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000010.11:g.5524310T>C, NC_000010.10:g.5566273T>C, NR_120496.1:n.225A>G

Select item 22314157.

rs2231415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:5524497 (GRCh38)
10:5566460 (GRCh37)
Canonical SPDI:: NC_000010.11:5524496:C:G,NC_000010.11:5524496:C:T
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00011/2 (ALFA)
T=0.00022/1 (Estonian)
T=0.00054/2 (TWINSUK)
T=0.00094/5 (1000Genomes)
T=0.0013/5 (ALSPAC)
T=0.00301/3 (GoNL)
T=0.00926/2 (Qatari)
G=0.375/3 (SGDP_PRJ)
HGVS:: NC_000010.11:g.5524497C>G, NC_000010.11:g.5524497C>T, NC_000010.10:g.5566460C>G, NC_000010.10:g.5566460C>T

Select item 22314178.

rs2231417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:5524776 (GRCh38)
10:5566739 (GRCh37)
Canonical SPDI:: NC_000010.11:5524775:G:A,NC_000010.11:5524775:G:C
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
C=0./0 (HapMap)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.5524776G>A, NC_000010.11:g.5524776G>C, NC_000010.10:g.5566739G>A, NC_000010.10:g.5566739G>C

Select item 22314189.

rs2231418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:5524835 (GRCh38)
10:5566798 (GRCh37)
Canonical SPDI:: NC_000010.11:5524834:C:G
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.050715/958 (ALFA)
G=0.000342/1 (KOREAN)
G=0.019988/100 (1000Genomes)
G=0.032374/8569 (TOPMED)
G=0.036523/5124 (GnomAD)
G=0.05/2 (GENOME_DK)
G=0.050926/11 (Qatari)
G=0.052104/52 (GoNL)
G=0.056095/208 (TWINSUK)
G=0.056305/217 (ALSPAC)
G=0.067187/301 (Estonian)
G=0.071667/43 (NorthernSweden)
C=0.5/7 (SGDP_PRJ)
HGVS:: NC_000010.11:g.5524835C>G, NC_000010.10:g.5566798C>G

Select item 223141910.

rs2231419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:5524869 (GRCh38)
10:5566832 (GRCh37)
Canonical SPDI:: NC_000010.11:5524868:G:A
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003814/55 (ALFA)
A=0.005309/27 (1000Genomes)
A=0.006129/860 (GnomAD)
A=0.006264/1658 (TOPMED)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000010.11:g.5524869G>A, NC_000010.10:g.5566832G>A

Select item 223142011.

rs2231420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:5525179 (GRCh38)
10:5567142 (GRCh37)
Canonical SPDI:: NC_000010.11:5525178:G:C,NC_000010.11:5525178:G:T
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002152/106 (ALFA)
C=0.000223/1 (Estonian)
C=0.00463/1 (Qatari)
C=0.005909/707 (ExAC)
C=0.007689/100 (GoESP)
C=0.007807/1095 (GnomAD)
C=0.008893/2354 (TOPMED)
C=0.014706/9 (Vietnamese)
C=0.014834/74 (1000Genomes)
C=0.015234/1186 (PAGE_STUDY)
C=0.020253/16 (PRJEB37584)
C=0.026316/77 (KOREAN)
C=0.028446/52 (Korea1K)
C=0.034756/582 (TOMMO)
G=0.5/1 (Siberian)
G=0.5/7 (SGDP_PRJ)
HGVS:: NC_000010.11:g.5525179G>C, NC_000010.11:g.5525179G>T, NC_000010.10:g.5567142G>C, NC_000010.10:g.5567142G>T, NM_005185.4:c.94G>C, NM_005185.4:c.94G>T, NM_005185.3:c.94G>C, NM_005185.3:c.94G>T, NM_005185.2:c.94G>C, NM_005185.2:c.94G>T, NP_005176.1:p.Glu32Gln, NP_005176.1:p.Glu32Ter

Select item 407206712.

rs4072067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:5516386 (GRCh38)
10:5558349 (GRCh37)
Canonical SPDI:: NC_000010.11:5516385:G:A,NC_000010.11:5516385:G:C
Gene:: CALML3-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.179591/40626 (ALFA)
A=0.003745/2 (MGP)
G=0.014019/3 (Vietnamese)
G=0.026718/448 (TOMMO)
G=0.027645/81 (KOREAN)
G=0.027838/51 (Korea1K)
G=0.071429/4 (Siberian)
G=0.086957/48 (SGDP_PRJ)
G=0.106526/222 (HGDP_Stanford)
G=0.125/5 (GENOME_DK)
G=0.12867/644 (1000Genomes)
G=0.131078/248 (HapMap)
G=0.152679/171 (Daghestan)
G=0.156667/94 (NorthernSweden)
G=0.157407/34 (Qatari)
G=0.163616/733 (Estonian)
G=0.164691/43592 (TOPMED)
G=0.167449/23480 (GnomAD)
G=0.178533/662 (TWINSUK)
G=0.179487/14 (PRJEB36033)
G=0.181629/700 (ALSPAC)
G=0.185371/185 (GoNL)
HGVS:: NC_000010.11:g.5516386G>A, NC_000010.11:g.5516386G>C, NC_000010.10:g.5558349G>A, NC_000010.10:g.5558349G>C, NR_120496.1:n.1567C>T, NR_120496.1:n.1567C>G, NR_120497.1:n.1455C>T, NR_120497.1:n.1455C>G

Select item 407206913.

rs4072069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:5523090 (GRCh38)
10:5565053 (GRCh37)
Canonical SPDI:: NC_000010.11:5523089:G:A,NC_000010.11:5523089:G:T
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.212564/42259 (ALFA)
A=0.15/6 (GENOME_DK)
A=0.193396/41 (Vietnamese)
A=0.2/120 (NorthernSweden)
A=0.203348/911 (Estonian)
A=0.223145/860 (ALSPAC)
A=0.223301/828 (TWINSUK)
A=0.224891/412 (Korea1K)
A=0.226852/49 (Qatari)
A=0.240481/240 (GoNL)
A=0.246161/513 (HGDP_Stanford)
A=0.252035/4224 (TOMMO)
A=0.25802/756 (KOREAN)
A=0.280679/74293 (TOPMED)
A=0.28248/1415 (1000Genomes)
A=0.291667/28 (PRJEB36033)
A=0.307916/24233 (PAGE_STUDY)
A=0.311839/590 (HapMap)
G=0.395652/91 (SGDP_PRJ)
G=0.5/15 (Siberian)
HGVS:: NC_000010.11:g.5523090G>A, NC_000010.11:g.5523090G>T, NC_000010.10:g.5565053G>A, NC_000010.10:g.5565053G>T

Select item 407207014.

rs4072070 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:5523099 (GRCh38)
10:5565062 (GRCh37)
Canonical SPDI:: NC_000010.11:5523098:T:A,NC_000010.11:5523098:T:C
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.027887/297 (ALFA)
C=0.189815/41 (Qatari)
C=0.2/8 (GENOME_DK)
C=0.248214/1112 (Estonian)
C=0.248362/455 (Korea1K)
C=0.265/159 (NorthernSweden)
C=0.270543/4534 (TOMMO)
C=0.275768/808 (KOREAN)
C=0.276858/1387 (1000Genomes)
C=0.287454/40235 (GnomAD)
C=0.290348/1119 (ALSPAC)
C=0.29315/1087 (TWINSUK)
C=0.296864/78577 (TOPMED)
C=0.29997/23607 (PAGE_STUDY)
C=0.302605/302 (GoNL)
C=0.377778/34 (PRJEB36033)
T=0.409836/100 (SGDP_PRJ)
T=0.470588/16 (Siberian)
HGVS:: NC_000010.11:g.5523099T>A, NC_000010.11:g.5523099T>C, NC_000010.10:g.5565062T>A, NC_000010.10:g.5565062T>C

Select item 407207115.

rs4072071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:5523393 (GRCh38)
10:5565356 (GRCh37)
Canonical SPDI:: NC_000010.11:5523392:C:A,NC_000010.11:5523392:C:G,NC_000010.11:5523392:C:T
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000093/1 (ALFA)
T=0.343341/629 (Korea1K)
T=0.360068/1055 (KOREAN)
T=0.360641/6044 (TOMMO)
C=0.380645/118 (SGDP_PRJ)
T=0.388889/84 (Qatari)
T=0.392879/1968 (1000Genomes)
T=0.401667/241 (NorthernSweden)
T=0.425/17 (GENOME_DK)
T=0.434727/115068 (TOPMED)
T=0.439705/1969 (Estonian)
T=0.470942/470 (GoNL)
C=0.5/23 (Siberian)
HGVS:: NC_000010.11:g.5523393C>A, NC_000010.11:g.5523393C>G, NC_000010.11:g.5523393C>T, NC_000010.10:g.5565356C>A, NC_000010.10:g.5565356C>G, NC_000010.10:g.5565356C>T

Select item 424279716.

rs4242797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 10:5525732 (GRCh38)
10:5567695 (GRCh37)
Canonical SPDI:: NC_000010.11:5525731:G:A,NC_000010.11:5525731:G:C,NC_000010.11:5525731:G:T
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.05813/10016 (ALFA)
G=0./0 (Korea1K)
G=0./0 (TOMMO)
G=0./0 (Vietnamese)
G=0.000342/1 (KOREAN)
G=0.028333/17 (NorthernSweden)
G=0.035199/39 (Daghestan)
G=0.042634/191 (Estonian)
G=0.043072/166 (ALSPAC)
G=0.046117/171 (TWINSUK)
G=0.05/2 (GENOME_DK)
G=0.0501/50 (GoNL)
G=0.052536/29 (SGDP_PRJ)
G=0.053571/3 (Siberian)
G=0.067416/36 (MGP)
G=0.087963/19 (Qatari)
G=0.114304/572 (1000Genomes)
G=0.120391/16879 (GnomAD)
G=0.121436/32143 (TOPMED)
G=0.163882/255 (HapMap)
HGVS:: NC_000010.11:g.5525732G>A, NC_000010.11:g.5525732G>C, NC_000010.11:g.5525732G>T, NC_000010.10:g.5567695G>A, NC_000010.10:g.5567695G>C, NC_000010.10:g.5567695G>T, NM_005185.4:c.*197G>A, NM_005185.4:c.*197G>C, NM_005185.4:c.*197G>T, NM_005185.3:c.*197G>A, NM_005185.3:c.*197G>C, NM_005185.3:c.*197G>T, NM_005185.2:c.*197A>G, NM_005185.2:c.*197A>C, NM_005185.2:c.*197A>T

Select item 440370217.

rs4403702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 10:5520639 (GRCh38)
10:5562602 (GRCh37)
Canonical SPDI:: NC_000010.11:5520638:G:A,NC_000010.11:5520638:G:C,NC_000010.11:5520638:G:T
Gene:: CALML3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.125/5 (GENOME_DK)
G=0.12782/68 (SGDP_PRJ)
G=0.145631/30 (Vietnamese)
G=0.16/96 (NorthernSweden)
G=0.166212/487 (KOREAN)
G=0.166667/8 (Siberian)
G=0.172175/771 (Estonian)
G=0.172447/2890 (TOMMO)
G=0.173035/317 (Korea1K)
G=0.175926/38 (Qatari)
G=0.179612/666 (TWINSUK)
G=0.182927/705 (ALSPAC)
G=0.184369/184 (GoNL)
G=0.21456/30001 (GnomAD)
G=0.214866/1076 (1000Genomes)
G=0.215977/57167 (TOPMED)
HGVS:: NC_000010.11:g.5520639G>A, NC_000010.11:g.5520639G>C, NC_000010.11:g.5520639G>T, NC_000010.10:g.5562602G>A, NC_000010.10:g.5562602G>C, NC_000010.10:g.5562602G>T

Select item 458918818.

rs4589188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:5525951 (GRCh38)
10:5567914 (GRCh37)
Canonical SPDI:: NC_000010.11:5525950:G:A
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.3032/40616 (ALFA)
A=0.055241/926 (TOMMO)
A=0.066894/196 (KOREAN)
A=0.067416/36 (MGP)
A=0.068777/126 (Korea1K)
A=0.093458/20 (Vietnamese)
A=0.251667/151 (NorthernSweden)
A=0.26317/1179 (Estonian)
A=0.280517/74250 (TOPMED)
A=0.281855/1412 (1000Genomes)
A=0.281938/39508 (GnomAD)
A=0.295551/558 (HapMap)
A=0.296296/64 (Qatari)
A=0.297595/297 (GoNL)
A=0.315534/1170 (TWINSUK)
A=0.316814/1221 (ALSPAC)
G=0.357143/5 (Siberian)
G=0.395652/91 (SGDP_PRJ)
A=0.425/17 (GENOME_DK)
HGVS:: NC_000010.11:g.5525951G>A, NC_000010.10:g.5567914G>A, NM_005185.4:c.*416G>A, NM_005185.3:c.*416G>A, NM_005185.2:c.*416G>A

Select item 458918919.

rs4589189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:5525901 (GRCh38)
10:5567864 (GRCh37)
Canonical SPDI:: NC_000010.11:5525900:G:C
Gene:: CALML3 (Varview), CALML3-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.304553/5753 (ALFA)
C=0.005618/3 (MGP)
C=0.054604/915 (TOMMO)
C=0.068989/202 (KOREAN)
C=0.069869/128 (Korea1K)
C=0.093458/20 (Vietnamese)
C=0.258333/155 (NorthernSweden)
C=0.266518/1194 (Estonian)
C=0.304497/1525 (1000Genomes)
C=0.306613/306 (GoNL)
C=0.308637/81693 (TOPMED)
C=0.309014/43283 (GnomAD)
C=0.317073/1222 (ALSPAC)
C=0.319849/1186 (TWINSUK)
C=0.337963/73 (Qatari)
G=0.357143/5 (Siberian)
G=0.391667/94 (SGDP_PRJ)
C=0.425/17 (GENOME_DK)
HGVS:: NC_000010.11:g.5525901G>C, NC_000010.10:g.5567864G>C, NM_005185.4:c.*366G>C, NM_005185.3:c.*366G>C, NM_005185.2:c.*366G>C

Select item 488146920.

rs4881469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 10:5520311 (GRCh38)
10:5562274 (GRCh37)
Canonical SPDI:: NC_000010.11:5520310:T:A,NC_000010.11:5520310:T:G
Gene:: CALML3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.231128/4366 (ALFA)
A=0.148148/32 (Qatari)
A=0.2/8 (GENOME_DK)
A=0.213333/128 (NorthernSweden)
A=0.223923/1121 (1000Genomes)
A=0.230022/32221 (GnomAD)
A=0.232529/61548 (TOPMED)
A=0.238713/920 (ALSPAC)
A=0.24164/896 (TWINSUK)
A=0.248884/1115 (Estonian)
A=0.270541/270 (GoNL)
A=0.273148/59 (Vietnamese)
A=0.324782/595 (Korea1K)
A=0.365188/1070 (KOREAN)
A=0.367002/6151 (TOMMO)
T=0.43578/95 (SGDP_PRJ)
T=0.464286/13 (Siberian)
HGVS:: NC_000010.11:g.5520311T>A, NC_000010.11:g.5520311T>G, NC_000010.10:g.5562274T>A, NC_000010.10:g.5562274T>G

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