LOXL4 - SNP

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Select item 3777584531.

rs377758453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:98262084 (GRCh38)
10:100021841 (GRCh37)
Canonical SPDI:: NC_000010.11:98262083:C:T
Gene:: LOXL4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.000048/12 (GnomAD_exomes)
T=0.000059/7 (ExAC)
T=0.000077/1 (GoESP)
T=0.000106/2 (TOMMO)
T=0.000684/2 (KOREAN)
HGVS:: NC_000010.11:g.98262084C>T, NC_000010.10:g.100021841C>T, NM_032211.7:c.407G>A, NM_032211.6:c.407G>A, XM_005270216.3:c.407G>A, XM_005270216.2:c.407G>A, XM_005270216.1:c.407G>A, XM_006718020.2:c.407G>A, XM_006718020.1:c.407G>A, XM_024448232.1:c.407G>A, XM_047425836.1:c.407G>A, XM_047425835.1:c.407G>A, NP_115587.6:p.Arg136His, XP_005270273.1:p.Arg136His, XP_006718083.1:p.Arg136His, XP_024304000.1:p.Arg136His, XP_047281792.1:p.Arg136His, XP_047281791.1:p.Arg136His

Select item 7293122.

rs729312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:98258993 (GRCh38)
10:100018750 (GRCh37)
Canonical SPDI:: NC_000010.11:98258992:G:A,NC_000010.11:98258992:G:C
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.98258993G>A, NC_000010.11:g.98258993G>C, NC_000010.10:g.100018750G>A, NC_000010.10:g.100018750G>C

Select item 7351163.

rs735116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:98261776 (GRCh38)
10:100021533 (GRCh37)
Canonical SPDI:: NC_000010.11:98261775:A:G
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.328745/6210 (ALFA)
G=0.21028/45 (Vietnamese)
G=0.24839/4163 (TOMMO)
G=0.25/458 (Korea1K)
G=0.253925/744 (KOREAN)
G=0.265459/1329 (1000Genomes)
G=0.291411/95 (HapMap)
G=0.3/12 (GENOME_DK)
G=0.3/180 (NorthernSweden)
G=0.310952/82306 (TOPMED)
G=0.316413/44351 (GnomAD)
G=0.319866/1433 (Estonian)
G=0.356481/77 (Qatari)
G=0.361443/1393 (ALSPAC)
A=0.363636/8 (Siberian)
G=0.371899/1379 (TWINSUK)
A=0.392241/91 (SGDP_PRJ)
G=0.39479/394 (GoNL)
HGVS:: NC_000010.11:g.98261776A>G, NC_000010.10:g.100021533A>G

Select item 7376564.

rs737656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:98252982 (GRCh38)
10:100012739 (GRCh37)
Canonical SPDI:: NC_000010.11:98252981:A:G
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.386713/7305 (ALFA)
A=0.255708/112 (SGDP_PRJ)
A=0.272727/12 (Siberian)
A=0.3/180 (NorthernSweden)
A=0.325/13 (GENOME_DK)
A=0.336384/1507 (Estonian)
A=0.359107/1384 (ALSPAC)
A=0.373247/1384 (TWINSUK)
A=0.384259/83 (Qatari)
A=0.38978/389 (GoNL)
A=0.415496/58216 (GnomAD)
A=0.425339/112583 (TOPMED)
A=0.428951/2148 (1000Genomes)
A=0.466463/153 (HapMap)
A=0.471963/101 (Vietnamese)
G=0.472696/1385 (KOREAN)
G=0.483079/885 (Korea1K)
G=0.483403/8102 (TOMMO)
HGVS:: NC_000010.11:g.98252982A>G, NC_000010.10:g.100012739A>G

Select item 7376575.

rs737657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:98253133 (GRCh38)
10:100012890 (GRCh37)
Canonical SPDI:: NC_000010.11:98253132:A:G
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.370107/29935 (ALFA)
A=0.255708/112 (SGDP_PRJ)
A=0.272727/12 (Siberian)
A=0.3/180 (NorthernSweden)
A=0.336384/1507 (Estonian)
A=0.359367/1385 (ALSPAC)
A=0.373247/1384 (TWINSUK)
A=0.388889/84 (Qatari)
A=0.38978/389 (GoNL)
A=0.41525/58150 (GnomAD)
A=0.42532/112578 (TOPMED)
A=0.428571/18 (PRJEB36033)
A=0.429107/2149 (1000Genomes)
A=0.434741/906 (HGDP_Stanford)
A=0.440275/833 (HapMap)
A=0.462963/100 (Vietnamese)
G=0.475427/1393 (KOREAN)
G=0.485808/890 (Korea1K)
G=0.487826/8176 (TOMMO)
HGVS:: NC_000010.11:g.98253133A>G, NC_000010.10:g.100012890A>G

PubMed LitVar

Select item 7462576.

rs746257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:98262226 (GRCh38)
10:100021983 (GRCh37)
Canonical SPDI:: NC_000010.11:98262225:G:A
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.138694/29411 (ALFA)
A=0.078704/17 (Qatari)
A=0.081081/6 (PRJEB36033)
A=0.088772/185 (HGDP_Stanford)
A=0.091503/56 (Vietnamese)
A=0.098942/187 (HapMap)
A=0.099313/497 (1000Genomes)
A=0.1/4 (GENOME_DK)
A=0.105431/66 (Chileans)
A=0.115044/30451 (TOPMED)
A=0.115175/211 (Korea1K)
A=0.116667/70 (NorthernSweden)
A=0.118939/29635 (GnomAD_exomes)
A=0.119049/16690 (GnomAD)
A=0.119908/14399 (ExAC)
A=0.124635/1621 (GoESP)
A=0.125522/2104 (TOMMO)
A=0.127902/573 (Estonian)
A=0.13347/390 (KOREAN)
A=0.145901/541 (TWINSUK)
A=0.146067/78 (MGP)
A=0.147639/569 (ALSPAC)
A=0.159319/159 (GoNL)
A=0.168874/51 (FINRISK)
G=0.483333/29 (SGDP_PRJ)
G=0.5/4 (Siberian)
HGVS:: NC_000010.11:g.98262226G>A, NC_000010.10:g.100021983G>A

Select item 7469697.

rs746969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:98258873 (GRCh38)
10:100018630 (GRCh37)
Canonical SPDI:: NC_000010.11:98258872:G:A,NC_000010.11:98258872:G:C
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.018304/543 (ALFA)
A=0./0 (PRJEB36033)
A=0.000519/2 (ALSPAC)
A=0.001002/1 (GoNL)
A=0.002157/8 (TWINSUK)
A=0.003745/2 (MGP)
A=0.018519/4 (Qatari)
A=0.019674/41 (HGDP_Stanford)
A=0.027157/17 (Chileans)
A=0.032429/4547 (GnomAD)
A=0.03469/9182 (TOPMED)
A=0.042161/211 (1000Genomes)
A=0.069/69 (HapMap)
G=0.5/7 (SGDP_PRJ)
HGVS:: NC_000010.11:g.98258873G>A, NC_000010.11:g.98258873G>C, NC_000010.10:g.100018630G>A, NC_000010.10:g.100018630G>C

Select item 8781778.

rs878177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:98254058 (GRCh38)
10:100013815 (GRCh37)
Canonical SPDI:: NC_000010.11:98254057:C:A,NC_000010.11:98254057:C:T
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.31207/5895 (ALFA)
T=0.266871/87 (HapMap)
T=0.268519/58 (Qatari)
C=0.272727/12 (Siberian)
T=0.285248/39941 (GnomAD)
T=0.295115/78114 (TOPMED)
C=0.300613/98 (SGDP_PRJ)
T=0.331715/1230 (TWINSUK)
T=0.342685/342 (GoNL)
T=0.348661/1562 (Estonian)
T=0.349248/1346 (ALSPAC)
T=0.35025/1754 (1000Genomes)
T=0.375/15 (GENOME_DK)
T=0.391667/235 (NorthernSweden)
C=0.396226/84 (Vietnamese)
C=0.454148/832 (Korea1K)
C=0.467235/1369 (KOREAN)
T=0.494515/8288 (TOMMO)
HGVS:: NC_000010.11:g.98254058C>A, NC_000010.11:g.98254058C>T, NC_000010.10:g.100013815C>A, NC_000010.10:g.100013815C>T

Select item 8781789.

rs878178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:98254220 (GRCh38)
10:100013977 (GRCh37)
Canonical SPDI:: NC_000010.11:98254219:A:G,NC_000010.11:98254219:A:T
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.317893/6005 (ALFA)
T=0.21028/45 (Vietnamese)
T=0.246179/451 (Korea1K)
T=0.247345/1239 (1000Genomes)
T=0.24793/4155 (TOMMO)
T=0.252901/741 (KOREAN)
T=0.263975/85 (HapMap)
T=0.291114/77055 (TOPMED)
T=0.297675/41709 (GnomAD)
T=0.298333/179 (NorthernSweden)
T=0.3/12 (GENOME_DK)
T=0.318304/1426 (Estonian)
T=0.328704/71 (Qatari)
T=0.356772/1375 (ALSPAC)
A=0.363636/8 (Siberian)
T=0.369741/1371 (TWINSUK)
T=0.387776/387 (GoNL)
A=0.407407/88 (SGDP_PRJ)
HGVS:: NC_000010.11:g.98254220A>G, NC_000010.11:g.98254220A>T, NC_000010.10:g.100013977A>G, NC_000010.10:g.100013977A>T

Select item 91280810.

rs912808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:98269688 (GRCh38)
10:100029445 (GRCh37)
Canonical SPDI:: NC_000010.11:98269687:C:T
Gene:: LOXL4 (Varview), LOC124902489 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.98269688C>T, NC_000010.10:g.100029445C>T, XR_007062260.1:n.1247C>T

Select item 91280911.

rs912809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:98261791 (GRCh38)
10:100021548 (GRCh37)
Canonical SPDI:: NC_000010.11:98261790:C:T
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001799/53 (ALFA)
C=0./0 (GENOME_DK)
C=0./0 (KOREAN)
C=0./0 (Korea1K)
C=0./0 (NorthernSweden)
C=0./0 (Qatari)
C=0./0 (SGDP_PRJ)
C=0./0 (Siberian)
C=0./0 (TOMMO)
C=0./0 (TWINSUK)
C=0./0 (Vietnamese)
C=0.000259/1 (ALSPAC)
C=0.00406/20 (1000Genomes)
C=0.004996/701 (GnomAD)
C=0.005044/1335 (TOPMED)
HGVS:: NC_000010.11:g.98261791C>T, NC_000010.10:g.100021548C>T

Select item 132550012.

rs1325500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:98269804 (GRCh38)
10:100029561 (GRCh37)
Canonical SPDI:: NC_000010.11:98269803:C:G,NC_000010.11:98269803:C:T
Gene:: LOXL4 (Varview), LOC124902489 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.316638/9584 (ALFA)
T=0.196262/42 (Vietnamese)
T=0.25203/1262 (1000Genomes)
T=0.25292/4239 (TOMMO)
T=0.253333/152 (NorthernSweden)
T=0.261202/478 (Korea1K)
T=0.261433/766 (KOREAN)
T=0.287627/76132 (TOPMED)
T=0.296296/64 (Qatari)
T=0.3/12 (GENOME_DK)
T=0.304018/1362 (Estonian)
T=0.34821/1342 (ALSPAC)
T=0.359493/1333 (TWINSUK)
C=0.375/9 (Siberian)
T=0.38477/384 (GoNL)
C=0.399083/87 (SGDP_PRJ)
HGVS:: NC_000010.11:g.98269804C>G, NC_000010.11:g.98269804C>T, NC_000010.10:g.100029561C>G, NC_000010.10:g.100029561C>T, XR_007062260.1:n.1363C>G, XR_007062260.1:n.1363C>T

Select item 154356313.

rs1543563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:98256517 (GRCh38)
10:100016274 (GRCh37)
Canonical SPDI:: NC_000010.11:98256516:A:G
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.057568/1246 (ALFA)
A=0./0 (GENOME_DK)
A=0./0 (KOREAN)
A=0./0 (Korea1K)
A=0./0 (NorthernSweden)
A=0./0 (Siberian)
A=0./0 (TOMMO)
A=0./0 (Vietnamese)
A=0.000223/1 (Estonian)
A=0.001002/1 (GoNL)
A=0.001297/5 (ALSPAC)
A=0.002697/10 (TWINSUK)
A=0.027675/15 (SGDP_PRJ)
A=0.041667/9 (Qatari)
A=0.097172/13625 (GnomAD)
A=0.103124/27296 (TOPMED)
A=0.110868/555 (1000Genomes)
A=0.167407/226 (HapMap)
HGVS:: NC_000010.11:g.98256517A>G, NC_000010.10:g.100016274A>G

Select item 188672714.

rs1886727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 10:98266641 (GRCh38)
10:100026398 (GRCh37)
Canonical SPDI:: NC_000010.11:98266640:T:A,NC_000010.11:98266640:T:C,NC_000010.11:98266640:T:G
Gene:: LOXL4 (Varview), LOC124902489 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.024616/465 (ALFA)
T=0./0 (GENOME_DK)
A=0./0 (KOREAN)
T=0./0 (Korea1K)
T=0./0 (NorthernSweden)
T=0./0 (Siberian)
T=0./0 (TOMMO)
T=0./0 (Vietnamese)
T=0.000223/1 (Estonian)
T=0.000259/1 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.009259/2 (Qatari)
T=0.019784/11 (SGDP_PRJ)
T=0.040723/5709 (GnomAD)
T=0.042473/213 (1000Genomes)
T=0.042873/11348 (TOPMED)
T=0.064024/21 (HapMap)
HGVS:: NC_000010.11:g.98266641T>A, NC_000010.11:g.98266641T>C, NC_000010.11:g.98266641T>G, NC_000010.10:g.100026398T>A, NC_000010.10:g.100026398T>C, NC_000010.10:g.100026398T>G

Select item 198386415.

rs1983864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:98257696 (GRCh38)
10:100017453 (GRCh37)
Canonical SPDI:: NC_000010.11:98257695:T:G
Gene:: LOXL4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.342322/122072 (ALFA)
G=0.25/26 (PRJEB36033)
G=0.251422/3270 (GoESP)
T=0.272727/12 (Siberian)
G=0.273408/146 (MGP)
G=0.282407/61 (Qatari)
G=0.287058/40222 (GnomAD)
G=0.292812/554 (HapMap)
G=0.29731/78695 (TOPMED)
T=0.300613/98 (SGDP_PRJ)
G=0.301238/23705 (PAGE_STUDY)
G=0.309211/94 (FINRISK)
G=0.331446/1229 (TWINSUK)
G=0.342685/342 (GoNL)
G=0.348438/1561 (Estonian)
G=0.348469/1343 (ALSPAC)
G=0.352592/1766 (1000Genomes)
G=0.373728/45322 (ExAC)
G=0.375/15 (GENOME_DK)
G=0.386549/97135 (GnomAD_exomes)
G=0.391667/235 (NorthernSweden)
G=0.418426/872 (HGDP_Stanford)
T=0.424293/255 (Vietnamese)
T=0.450255/353 (PRJEB37584)
T=0.455786/835 (Korea1K)
T=0.466894/1368 (KOREAN)
G=0.494691/8290 (TOMMO)
HGVS:: NC_000010.11:g.98257696T>G, NC_000010.10:g.100017453T>G, NM_032211.7:c.1214A>C, NM_032211.6:c.1214A>C, XM_005270216.3:c.1217A>C, XM_005270216.2:c.1217A>C, XM_005270216.1:c.1217A>C, XM_006718020.2:c.1217A>C, XM_006718020.1:c.1217A>C, XM_024448232.1:c.1217A>C, XM_047425836.1:c.1214A>C, XM_047425835.1:c.1214A>C, NP_115587.6:p.Asp405Ala, XP_005270273.1:p.Asp406Ala, XP_006718083.1:p.Asp406Ala, XP_024304000.1:p.Asp406Ala, XP_047281792.1:p.Asp405Ala, XP_047281791.1:p.Asp405Ala

PubMed

Select item 198386516.

rs1983865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:98256582 (GRCh38)
10:100016339 (GRCh37)
Canonical SPDI:: NC_000010.11:98256581:C:G,NC_000010.11:98256581:C:T
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.448151/135011 (ALFA)
T=0.014981/8 (MGP)
C=0.23913/11 (Siberian)
C=0.253589/106 (SGDP_PRJ)
C=0.263889/57 (Vietnamese)
C=0.283318/4748 (TOMMO)
C=0.283843/520 (Korea1K)
C=0.285533/225 (PRJEB37584)
C=0.294539/863 (KOREAN)
T=0.412437/57775 (GnomAD)
T=0.42617/112803 (TOPMED)
T=0.426645/1582 (TWINSUK)
T=0.430862/430 (GoNL)
T=0.436161/1954 (Estonian)
T=0.439815/95 (Qatari)
T=0.446829/91634 (GENOGRAPHIC)
T=0.449144/1731 (ALSPAC)
C=0.449616/937 (HGDP_Stanford)
T=0.45/18 (GENOME_DK)
T=0.459898/36194 (PAGE_STUDY)
T=0.461667/277 (NorthernSweden)
T=0.469345/888 (HapMap)
T=0.497814/2493 (1000Genomes)
C=0.5/34 (PRJEB36033)
HGVS:: NC_000010.11:g.98256582C>G, NC_000010.11:g.98256582C>T, NC_000010.10:g.100016339C>G, NC_000010.10:g.100016339C>T

Select item 198386617.

rs1983866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:98256556 (GRCh38)
10:100016313 (GRCh37)
Canonical SPDI:: NC_000010.11:98256555:A:C,NC_000010.11:98256555:A:G,NC_000010.11:98256555:A:T
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.296294/5597 (ALFA)
G=0./0 (KOREAN)
T=0.259259/56 (Qatari)
T=0.269481/83 (HapMap)
A=0.272727/12 (Siberian)
T=0.27361/38341 (GnomAD)
T=0.285149/75476 (TOPMED)
A=0.303681/99 (SGDP_PRJ)
T=0.307174/1139 (TWINSUK)
T=0.320641/320 (GoNL)
T=0.322522/1243 (ALSPAC)
T=0.33125/1484 (Estonian)
T=0.35/14 (GENOME_DK)
T=0.353435/1770 (1000Genomes)
T=0.386667/232 (NorthernSweden)
A=0.386792/82 (Vietnamese)
A=0.457424/838 (Korea1K)
T=0.494515/8288 (TOMMO)
HGVS:: NC_000010.11:g.98256556A>C, NC_000010.11:g.98256556A>G, NC_000010.11:g.98256556A>T, NC_000010.10:g.100016313A>C, NC_000010.10:g.100016313A>G, NC_000010.10:g.100016313A>T

Select item 198386718.

rs1983867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:98256439 (GRCh38)
10:100016196 (GRCh37)
Canonical SPDI:: NC_000010.11:98256438:G:C,NC_000010.11:98256438:G:T
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.423822/8006 (ALFA)
G=0.23913/11 (Siberian)
G=0.253589/106 (SGDP_PRJ)
G=0.261682/56 (Vietnamese)
G=0.283283/4748 (TOMMO)
G=0.283297/519 (Korea1K)
G=0.294881/864 (KOREAN)
C=0.412513/57751 (GnomAD)
C=0.4262/112811 (TOPMED)
C=0.427724/1586 (TWINSUK)
C=0.430862/430 (GoNL)
C=0.436161/1954 (Estonian)
C=0.439815/95 (Qatari)
C=0.443038/140 (HapMap)
G=0.447368/34 (PRJEB36033)
C=0.450441/1736 (ALSPAC)
C=0.461667/277 (NorthernSweden)
C=0.497658/2492 (1000Genomes)
HGVS:: NC_000010.11:g.98256439G>C, NC_000010.11:g.98256439G>T, NC_000010.10:g.100016196G>C, NC_000010.10:g.100016196G>T

Select item 201597219.

rs2015972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:98258481 (GRCh38)
10:100018238 (GRCh37)
Canonical SPDI:: NC_000010.11:98258480:C:G,NC_000010.11:98258480:C:T
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.415243/7535 (ALFA)
C=0.23913/11 (Siberian)
C=0.253589/106 (SGDP_PRJ)
C=0.283019/60 (Vietnamese)
C=0.286572/525 (Korea1K)
C=0.286963/4809 (TOMMO)
C=0.295563/866 (KOREAN)
T=0.412099/57346 (GnomAD)
T=0.425872/112724 (TOPMED)
T=0.427994/1587 (TWINSUK)
T=0.430862/430 (GoNL)
T=0.439815/95 (Qatari)
T=0.449922/1734 (ALSPAC)
T=0.45/18 (GENOME_DK)
T=0.461667/277 (NorthernSweden)
T=0.496408/2486 (1000Genomes)
HGVS:: NC_000010.11:g.98258481C>G, NC_000010.11:g.98258481C>T, NC_000010.10:g.100018238C>G, NC_000010.10:g.100018238C>T

Select item 375059620.

rs3750596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:98250821 (GRCh38)
10:100010578 (GRCh37)
Canonical SPDI:: NC_000010.11:98250820:A:C,NC_000010.11:98250820:A:T
Gene:: LOXL4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.407628/5878 (ALFA)
A=0.326923/119 (SGDP_PRJ)
A=0.342105/13 (Siberian)
T=0.397337/105171 (TOPMED)
T=0.41782/1871 (Estonian)
T=0.425/17 (GENOME_DK)
T=0.427724/1586 (TWINSUK)
T=0.429575/2151 (1000Genomes)
T=0.430862/430 (GoNL)
T=0.43413/1272 (KOREAN)
T=0.439815/95 (Qatari)
T=0.449403/1732 (ALSPAC)
T=0.449782/824 (Korea1K)
T=0.452438/7583 (TOMMO)
T=0.46/276 (NorthernSweden)
T=0.490566/104 (Vietnamese)
HGVS:: NC_000010.11:g.98250821A>C, NC_000010.11:g.98250821A>T, NC_000010.10:g.100010578A>C, NC_000010.10:g.100010578A>T

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