APLN - SNP - NCBI

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Select item 22810691.

rs2281069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:129654737 (GRCh38)
X:128788714 (GRCh37)
Canonical SPDI:: NC_000023.11:129654736:A:C,NC_000023.11:129654736:A:G
Gene:: APLN (Varview)
Functional Consequence:: 5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.016324/267 (ALFA)
G=0.04846/140 (ALSPAC)
G=0.05/2 (GENOME_DK)
G=0.06014/223 (TWINSUK)
G=0.083333/9 (Qatari)
G=0.160864/42579 (TOPMED)
A=0.179487/28 (SGDP_PRJ)
G=0.217482/821 (1000Genomes)
G=0.318867/889 (KOREAN)
A=0.333333/2 (Siberian)
HGVS:: NC_000023.11:g.129654737A>C, NC_000023.11:g.129654737A>G, NC_000023.10:g.128788714A>C, NC_000023.10:g.128788714A>G, NG_016718.1:g.5220T>G, NG_016718.1:g.5220T>C, NM_017413.5:c.-107T>G, NM_017413.5:c.-107T>C, NM_017413.4:c.-107T>G, NM_017413.4:c.-107T>C

PubMed

Select item 31157572.

rs3115757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:129648435 (GRCh38)
X:128782412 (GRCh37)
Canonical SPDI:: NC_000023.11:129648434:C:A,NC_000023.11:129648434:C:G,NC_000023.11:129648434:C:T
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.169924/3147 (ALFA)
G=0.033708/18 (MGP)
G=0.05/2 (GENOME_DK)
G=0.06992/202 (ALSPAC)
G=0.081446/302 (TWINSUK)
C=0.142857/2 (Siberian)
C=0.144737/33 (SGDP_PRJ)
G=0.231481/25 (Qatari)
G=0.259644/26996 (GnomAD)
G=0.295225/78143 (TOPMED)
C=0.297473/871 (KOREAN)
C=0.318828/4094 (TOMMO)
C=0.375/18 (Vietnamese)
G=0.416857/1574 (1000Genomes)
C=0.484756/159 (HapMap)
HGVS:: NC_000023.11:g.129648435C>A, NC_000023.11:g.129648435C>G, NC_000023.11:g.129648435C>T, NC_000023.10:g.128782412C>A, NC_000023.10:g.128782412C>G, NC_000023.10:g.128782412C>T, NG_016718.1:g.11522G>T, NG_016718.1:g.11522G>C, NG_016718.1:g.11522G>A

PubMed LitVar

Select item 59771263.

rs5977126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:129648559 (GRCh38)
X:128782536 (GRCh37)
Canonical SPDI:: NC_000023.11:129648558:G:A,NC_000023.11:129648558:G:C
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.022133/381 (ALFA)
A=0.021036/78 (TWINSUK)
A=0.021461/62 (ALSPAC)
A=0.022472/12 (MGP)
A=0.025/1 (GENOME_DK)
A=0.12037/13 (Qatari)
A=0.128932/13537 (GnomAD)
A=0.149552/39585 (TOPMED)
G=0.197917/19 (SGDP_PRJ)
A=0.22872/863 (1000Genomes)
G=0.25/1 (Siberian)
A=0.407776/5237 (TOMMO)
A=0.445392/1305 (KOREAN)
A=0.458333/22 (Vietnamese)
HGVS:: NC_000023.11:g.129648559G>A, NC_000023.11:g.129648559G>C, NC_000023.10:g.128782536G>A, NC_000023.10:g.128782536G>C, NG_016718.1:g.11398C>T, NG_016718.1:g.11398C>G

Select item 59771304.

rs5977130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:129654413 (GRCh38)
X:128788390 (GRCh37)
Canonical SPDI:: NC_000023.11:129654412:T:C,NC_000023.11:129654412:T:G
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.170982/3936 (ALFA)
C=0.070613/204 (ALSPAC)
C=0.075/3 (GENOME_DK)
C=0.081715/303 (TWINSUK)
T=0.109375/28 (SGDP_PRJ)
T=0.185734/539 (KOREAN)
T=0.2/2 (Siberian)
T=0.208333/10 (Vietnamese)
T=0.209453/2688 (TOMMO)
C=0.25/27 (Qatari)
C=0.304944/31798 (GnomAD)
C=0.343111/90818 (TOPMED)
C=0.482914/1823 (1000Genomes)
HGVS:: NC_000023.11:g.129654413T>C, NC_000023.11:g.129654413T>G, NC_000023.10:g.128788390T>C, NC_000023.10:g.128788390T>G, NG_016718.1:g.5544A>G, NG_016718.1:g.5544A>C

Select item 1813016865.

rs181301686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:129654944 (GRCh38)
X:128788921 (GRCh37)
Canonical SPDI:: NC_000023.11:129654943:A:G
Gene:: APLN (Varview)
Functional Consequence:: 5_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.048223/893 (ALFA)
G=0.001042/3 (KOREAN)
G=0.014152/53 (1000Genomes)
G=0.027778/3 (Qatari)
G=0.030024/7947 (TOPMED)
G=0.036587/3835 (GnomAD)
G=0.04846/140 (ALSPAC)
G=0.055016/204 (TWINSUK)
A=0.25/5 (SGDP_PRJ)
A=0.5/1 (Siberian)
HGVS:: NC_000023.11:g.129654944A>G, NC_000023.10:g.128788921A>G, NG_016718.1:g.5013T>C, NM_017413.5:c.-314T>C, NM_017413.4:c.-314T>C

LitVar

Select item 596908746.

rs59690874 has merged into rs3115757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:129648435 (GRCh38)
X:128782412 (GRCh37)
Canonical SPDI:: NC_000023.11:129648434:C:A,NC_000023.11:129648434:C:G,NC_000023.11:129648434:C:T
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.169924/3147 (ALFA)
G=0.033708/18 (MGP)
G=0.05/2 (GENOME_DK)
G=0.06992/202 (ALSPAC)
G=0.081446/302 (TWINSUK)
C=0.142857/2 (Siberian)
C=0.144737/33 (SGDP_PRJ)
G=0.231481/25 (Qatari)
G=0.259644/26996 (GnomAD)
G=0.295225/78143 (TOPMED)
C=0.297473/871 (KOREAN)
C=0.318828/4094 (TOMMO)
C=0.375/18 (Vietnamese)
G=0.416857/1574 (1000Genomes)
C=0.484756/159 (HapMap)
HGVS:: NC_000023.11:g.129648435C>A, NC_000023.11:g.129648435C>G, NC_000023.11:g.129648435C>T, NC_000023.10:g.128782412C>A, NC_000023.10:g.128782412C>G, NC_000023.10:g.128782412C>T, NG_016718.1:g.11522G>T, NG_016718.1:g.11522G>C, NG_016718.1:g.11522G>A

Select item 569264317.

rs56926431 has merged into rs5977126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:129648559 (GRCh38)
X:128782536 (GRCh37)
Canonical SPDI:: NC_000023.11:129648558:G:A,NC_000023.11:129648558:G:C
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.022133/381 (ALFA)
A=0.021036/78 (TWINSUK)
A=0.021461/62 (ALSPAC)
A=0.022472/12 (MGP)
A=0.025/1 (GENOME_DK)
A=0.12037/13 (Qatari)
A=0.128932/13537 (GnomAD)
A=0.149552/39585 (TOPMED)
G=0.197917/19 (SGDP_PRJ)
A=0.22872/863 (1000Genomes)
G=0.25/1 (Siberian)
A=0.407776/5237 (TOMMO)
A=0.445392/1305 (KOREAN)
A=0.458333/22 (Vietnamese)
HGVS:: NC_000023.11:g.129648559G>A, NC_000023.11:g.129648559G>C, NC_000023.10:g.128782536G>A, NC_000023.10:g.128782536G>C, NG_016718.1:g.11398C>T, NG_016718.1:g.11398C>G

Select item 70547898.

rs7054789 has merged into rs5977126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:129648559 (GRCh38)
X:128782536 (GRCh37)
Canonical SPDI:: NC_000023.11:129648558:G:A,NC_000023.11:129648558:G:C
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.022133/381 (ALFA)
A=0.021036/78 (TWINSUK)
A=0.021461/62 (ALSPAC)
A=0.022472/12 (MGP)
A=0.025/1 (GENOME_DK)
A=0.12037/13 (Qatari)
A=0.128932/13537 (GnomAD)
A=0.149552/39585 (TOPMED)
G=0.197917/19 (SGDP_PRJ)
A=0.22872/863 (1000Genomes)
G=0.25/1 (Siberian)
A=0.407776/5237 (TOMMO)
A=0.445392/1305 (KOREAN)
A=0.458333/22 (Vietnamese)
HGVS:: NC_000023.11:g.129648559G>A, NC_000023.11:g.129648559G>C, NC_000023.10:g.128782536G>A, NC_000023.10:g.128782536G>C, NG_016718.1:g.11398C>T, NG_016718.1:g.11398C>G

Select item 584978709.

rs58497870 has merged into rs5977130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:129654413 (GRCh38)
X:128788390 (GRCh37)
Canonical SPDI:: NC_000023.11:129654412:T:C,NC_000023.11:129654412:T:G
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.170982/3936 (ALFA)
C=0.070613/204 (ALSPAC)
C=0.075/3 (GENOME_DK)
C=0.081715/303 (TWINSUK)
T=0.109375/28 (SGDP_PRJ)
T=0.185734/539 (KOREAN)
T=0.2/2 (Siberian)
T=0.208333/10 (Vietnamese)
T=0.209453/2688 (TOMMO)
C=0.25/27 (Qatari)
C=0.304944/31798 (GnomAD)
C=0.343111/90818 (TOPMED)
C=0.482914/1823 (1000Genomes)
HGVS:: NC_000023.11:g.129654413T>C, NC_000023.11:g.129654413T>G, NC_000023.10:g.128788390T>C, NC_000023.10:g.128788390T>G, NG_016718.1:g.5544A>G, NG_016718.1:g.5544A>C

Select item 73497510.

rs734975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:129649907 (GRCh38)
X:128783884 (GRCh37)
Canonical SPDI:: NC_000023.11:129649906:C:T
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.026728/495 (ALFA)
T=0.00027/1 (TWINSUK)
T=0.001038/3 (ALSPAC)
T=0.037037/4 (Qatari)
C=0.038462/1 (SGDP_PRJ)
T=0.045337/4683 (GnomAD)
T=0.05231/13846 (TOPMED)
T=0.057856/218 (1000Genomes)
T=0.07622/25 (HapMap)
T=0.093643/274 (KOREAN)
T=0.094722/1216 (TOMMO)
T=0.145833/7 (Vietnamese)
C=0.166667/1 (Siberian)
HGVS:: NC_000023.11:g.129649907C>T, NC_000023.10:g.128783884C>T, NG_016718.1:g.10050G>A

Select item 90965611.

rs909656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:129648585 (GRCh38)
X:128782562 (GRCh37)
Canonical SPDI:: NC_000023.11:129648584:G:A,NC_000023.11:129648584:G:T
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002385/74 (ALFA)
T=0.000346/1 (ALSPAC)
T=0.000539/2 (TWINSUK)
T=0.001873/1 (MGP)
T=0.003027/30 (GoESP)
T=0.006872/724 (GnomAD)
T=0.009259/1 (Qatari)
T=0.013599/1876 (GnomAD_exomes)
T=0.019979/75 (1000Genomes)
T=0.030997/46 (HapMap)
T=0.0625/3 (Vietnamese)
G=0.083333/1 (SGDP_PRJ)
T=0.092026/1182 (TOMMO)
T=0.093985/275 (KOREAN)
G=0.166667/1 (Siberian)
HGVS:: NC_000023.11:g.129648585G>A, NC_000023.11:g.129648585G>T, NC_000023.10:g.128782562G>A, NC_000023.10:g.128782562G>T, NG_016718.1:g.11372C>T, NG_016718.1:g.11372C>A

PubMed

Select item 90965712.

rs909657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:129649590 (GRCh38)
X:128783567 (GRCh37)
Canonical SPDI:: NC_000023.11:129649589:A:C,NC_000023.11:129649589:A:G
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.150266/9220 (ALFA)
G=0.070267/203 (ALSPAC)
G=0.075/3 (GENOME_DK)
G=0.081715/303 (TWINSUK)
A=0.125/30 (SGDP_PRJ)
A=0.166667/2 (Siberian)
G=0.259259/28 (Qatari)
A=0.297611/872 (KOREAN)
G=0.309546/31874 (GnomAD)
A=0.3125/15 (Vietnamese)
A=0.318544/4091 (TOMMO)
G=0.349737/92572 (TOPMED)
A=0.446105/836 (HapMap)
G=0.472216/1783 (1000Genomes)
HGVS:: NC_000023.11:g.129649590A>C, NC_000023.11:g.129649590A>G, NC_000023.10:g.128783567A>C, NC_000023.10:g.128783567A>G, NG_016718.1:g.10367T>G, NG_016718.1:g.10367T>C

PubMed

Select item 214277913.

rs2142779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: X:129656755 (GRCh38)
X:128790732 (GRCh37)
Canonical SPDI:: NC_000023.11:129656754:A:C,NC_000023.11:129656754:A:G,NC_000023.11:129656754:A:T
Gene:: APLN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.055202/953 (ALFA)
T=0./0 (KOREAN)
A=0./0 (Vietnamese)
A=0.000723/9 (TOMMO)
A=0.001799/1 (SGDP_PRJ)
A=0.023517/89 (1000Genomes)
A=0.027778/3 (Qatari)
A=0.045948/12162 (TOPMED)
A=0.05/2 (GENOME_DK)
A=0.05/2 (Siberian)
A=0.075459/218 (ALSPAC)
A=0.0774/287 (TWINSUK)
HGVS:: NC_000023.11:g.129656755A>C, NC_000023.11:g.129656755A>G, NC_000023.11:g.129656755A>T, NC_000023.10:g.128790732A>C, NC_000023.10:g.128790732A>G, NC_000023.10:g.128790732A>T, NG_016718.1:g.3202T>G, NG_016718.1:g.3202T>C, NG_016718.1:g.3202T>A

Select item 223530614.

rs2235306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:129650121 (GRCh38)
X:128784098 (GRCh37)
Canonical SPDI:: NC_000023.11:129650120:T:C
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.05416/3321 (ALFA)
C=0.021036/78 (TWINSUK)
C=0.021461/62 (ALSPAC)
C=0.023256/2 (PRJEB36033)
C=0.025/1 (GENOME_DK)
C=0.12037/13 (Qatari)
C=0.122938/12605 (GnomAD)
C=0.145128/38414 (TOPMED)
C=0.171305/357 (HGDP_Stanford)
T=0.193878/19 (SGDP_PRJ)
C=0.226223/854 (1000Genomes)
C=0.268332/505 (HapMap)
C=0.410764/5275 (TOMMO)
C=0.446721/1308 (KOREAN)
C=0.458333/22 (Vietnamese)
T=0.5/1 (Siberian)
HGVS:: NC_000023.11:g.129650121T>C, NC_000023.10:g.128784098T>C, NG_016718.1:g.9836A>G

PubMed

Select item 223530715.

rs2235307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:129650855 (GRCh38)
X:128784832 (GRCh37)
Canonical SPDI:: NC_000023.11:129650854:C:A,NC_000023.11:129650854:C:T
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.048108/4817 (ALFA)
C=0./0 (Siberian)
T=0.047421/137 (ALSPAC)
T=0.05/2 (GENOME_DK)
T=0.06014/223 (TWINSUK)
T=0.074074/8 (Qatari)
T=0.107486/224 (HGDP_Stanford)
T=0.130435/6 (PRJEB36033)
T=0.136524/515 (1000Genomes)
T=0.161433/473 (KOREAN)
T=0.163728/260 (HapMap)
T=0.166667/8 (Vietnamese)
T=0.176447/2266 (TOMMO)
C=0.194444/21 (SGDP_PRJ)
HGVS:: NC_000023.11:g.129650855C>A, NC_000023.11:g.129650855C>T, NC_000023.10:g.128784832C>A, NC_000023.10:g.128784832C>T, NG_016718.1:g.9102G>T, NG_016718.1:g.9102G>A

PubMed LitVar

Select item 223530816.

rs2235308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: X:129651235 (GRCh38)
X:128785212 (GRCh37)
Canonical SPDI:: NC_000023.11:129651234:A:C,NC_000023.11:129651234:A:G,NC_000023.11:129651234:A:T
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.196133/3632 (ALFA)
T=0./0 (KOREAN)
G=0.06992/202 (ALSPAC)
G=0.075/3 (GENOME_DK)
G=0.081446/302 (TWINSUK)
A=0.125/30 (SGDP_PRJ)
A=0.2/2 (Siberian)
G=0.259259/28 (Qatari)
G=0.308061/31457 (GnomAD)
A=0.318032/4084 (TOMMO)
G=0.349583/92531 (TOPMED)
A=0.426829/140 (HapMap)
G=0.472216/1783 (1000Genomes)
HGVS:: NC_000023.11:g.129651235A>C, NC_000023.11:g.129651235A>G, NC_000023.11:g.129651235A>T, NC_000023.10:g.128785212A>C, NC_000023.10:g.128785212A>G, NC_000023.10:g.128785212A>T, NG_016718.1:g.8722T>G, NG_016718.1:g.8722T>C, NG_016718.1:g.8722T>A

Select item 223530917.

rs2235309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:129651324 (GRCh38)
X:128785301 (GRCh37)
Canonical SPDI:: NC_000023.11:129651323:C:G,NC_000023.11:129651323:C:T
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.079644/1475 (ALFA)
T=0.021036/78 (TWINSUK)
T=0.021461/62 (ALSPAC)
T=0.025/1 (GENOME_DK)
T=0.12037/13 (Qatari)
T=0.128124/13088 (GnomAD)
T=0.152012/40236 (TOPMED)
C=0.185185/20 (SGDP_PRJ)
T=0.231426/874 (1000Genomes)
C=0.25/1 (Siberian)
T=0.279503/90 (HapMap)
T=0.408352/5244 (TOMMO)
T=0.4375/21 (Vietnamese)
T=0.446721/1308 (KOREAN)
HGVS:: NC_000023.11:g.129651324C>G, NC_000023.11:g.129651324C>T, NC_000023.10:g.128785301C>G, NC_000023.10:g.128785301C>T, NG_016718.1:g.8633G>C, NG_016718.1:g.8633G>A

Select item 223531018.

rs2235310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:129652326 (GRCh38)
X:128786303 (GRCh37)
Canonical SPDI:: NC_000023.11:129652325:T:C
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.08342/1600 (ALFA)
C=0.001873/1 (MGP)
C=0.021036/78 (TWINSUK)
C=0.021461/62 (ALSPAC)
C=0.025/1 (GENOME_DK)
C=0.12037/13 (Qatari)
C=0.126015/12770 (GnomAD)
C=0.146133/38680 (TOPMED)
T=0.204082/20 (SGDP_PRJ)
C=0.226847/856 (1000Genomes)
T=0.25/1 (Siberian)
C=0.280488/92 (HapMap)
C=0.413393/5309 (TOMMO)
C=0.448016/1310 (KOREAN)
C=0.458333/22 (Vietnamese)
HGVS:: NC_000023.11:g.129652326T>C, NC_000023.10:g.128786303T>C, NG_016718.1:g.7631A>G

PubMed

Select item 223531119.

rs2235311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:129652697 (GRCh38)
X:128786674 (GRCh37)
Canonical SPDI:: NC_000023.11:129652696:G:A
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (HapMap)
A=0.000029/3 (GnomAD)
A=0.000079/21 (TOPMED)
A=0.000832/3 (1000Genomes)
A=0.006849/20 (KOREAN)
A=0.019169/246 (TOMMO)
HGVS:: NC_000023.11:g.129652697G>A, NC_000023.10:g.128786674G>A, NG_016718.1:g.7260C>T

Select item 223531220.

rs2235312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:129653118 (GRCh38)
X:128787095 (GRCh37)
Canonical SPDI:: NC_000023.11:129653117:A:G
Gene:: APLN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.12194/20326 (ALFA)
G=0.03125/2 (PRJEB36033)
G=0.069574/201 (ALSPAC)
G=0.075/3 (GENOME_DK)
G=0.081715/303 (TWINSUK)
A=0.125/30 (SGDP_PRJ)
A=0.142857/2 (Siberian)
G=0.259259/28 (Qatari)
A=0.297676/871 (KOREAN)
G=0.310761/32215 (GnomAD)
A=0.318468/4089 (TOMMO)
G=0.347889/725 (HGDP_Stanford)
G=0.34962/92541 (TOPMED)
A=0.354167/17 (Vietnamese)
A=0.445917/841 (HapMap)
G=0.472841/1785 (1000Genomes)
HGVS:: NC_000023.11:g.129653118A>G, NC_000023.10:g.128787095A>G, NG_016718.1:g.6839T>C

PubMed

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