"human"[ORGN] and SPATA19 - SNP

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Select item 18938501.

rs1893850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 11:133835461 (GRCh38)
11:133705356 (GRCh37)
Canonical SPDI:: NC_000011.10:133835460:T:A,NC_000011.10:133835460:T:C,NC_000011.10:133835460:T:G
Gene:: SPATA19 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.361751/51671 (ALFA)
G=0./0 (KOREAN)
C=0.2/18 (PRJEB36033)
T=0.23913/11 (Siberian)
C=0.330012/87351 (TOPMED)
C=0.335805/634 (HapMap)
C=0.337433/47248 (GnomAD)
C=0.347222/75 (Qatari)
T=0.350467/75 (Vietnamese)
C=0.354709/354 (GoNL)
C=0.357745/1792 (1000Genomes)
T=0.359043/135 (SGDP_PRJ)
C=0.369202/1369 (TWINSUK)
C=0.384276/1481 (ALSPAC)
T=0.420058/7039 (TOMMO)
C=0.422745/881 (HGDP_Stanford)
C=0.428333/257 (NorthernSweden)
T=0.429585/787 (Korea1K)
C=0.470759/2109 (Estonian)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000011.10:g.133835461T>A, NC_000011.10:g.133835461T>C, NC_000011.10:g.133835461T>G, NC_000011.9:g.133705356T>A, NC_000011.9:g.133705356T>C, NC_000011.9:g.133705356T>G

Select item 21566752.

rs2156675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:133837614 (GRCh38)
11:133707509 (GRCh37)
Canonical SPDI:: NC_000011.10:133837613:G:A,NC_000011.10:133837613:G:C,NC_000011.10:133837613:G:T
Gene:: SPATA19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.164743/3112 (ALFA)
T=0./0 (KOREAN)
G=0./0 (Korea1K)
G=0./0 (Vietnamese)
G=0.000035/1 (TOMMO)
G=0.055556/3 (Siberian)
G=0.067029/37 (SGDP_PRJ)
G=0.07589/380 (1000Genomes)
G=0.125/5 (GENOME_DK)
G=0.12963/28 (Qatari)
G=0.13058/585 (Estonian)
G=0.139711/36980 (TOPMED)
G=0.143328/20086 (GnomAD)
G=0.175/105 (NorthernSweden)
G=0.217435/217 (GoNL)
G=0.22548/869 (ALSPAC)
G=0.239213/887 (TWINSUK)
HGVS:: NC_000011.10:g.133837614G>A, NC_000011.10:g.133837614G>C, NC_000011.10:g.133837614G>T, NC_000011.9:g.133707509G>A, NC_000011.9:g.133707509G>C, NC_000011.9:g.133707509G>T

Select item 21566763.

rs2156676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:133845896 (GRCh38)
11:133715791 (GRCh37)
Canonical SPDI:: NC_000011.10:133845895:G:A,NC_000011.10:133845895:G:C,NC_000011.10:133845895:G:T
Gene:: SPATA19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.216818/2238 (ALFA)
G=0.23913/11 (Siberian)
C=0.319498/84568 (TOPMED)
C=0.327277/45809 (GnomAD)
G=0.336449/72 (Vietnamese)
C=0.337963/73 (Qatari)
C=0.344004/1723 (1000Genomes)
C=0.354709/354 (GoNL)
G=0.357527/133 (SGDP_PRJ)
C=0.37109/1376 (TWINSUK)
C=0.384536/1482 (ALSPAC)
G=0.40847/1196 (KOREAN)
G=0.419846/7036 (TOMMO)
C=0.428333/257 (NorthernSweden)
G=0.428493/785 (Korea1K)
C=0.474554/2126 (Estonian)
G=0.475/19 (GENOME_DK)
HGVS:: NC_000011.10:g.133845896G>A, NC_000011.10:g.133845896G>C, NC_000011.10:g.133845896G>T, NC_000011.9:g.133715791G>A, NC_000011.9:g.133715791G>C, NC_000011.9:g.133715791G>T

Select item 21874494.

rs2187449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:133842787 (GRCh38)
11:133712682 (GRCh37)
Canonical SPDI:: NC_000011.10:133842786:G:A,NC_000011.10:133842786:G:C,NC_000011.10:133842786:G:T
Gene:: SPATA19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.219528/37206 (ALFA)
G=0.052381/11 (Vietnamese)
G=0.055556/3 (Siberian)
G=0.06653/1115 (TOMMO)
G=0.074236/136 (Korea1K)
G=0.080887/237 (KOREAN)
G=0.082117/45 (SGDP_PRJ)
G=0.100106/189 (HapMap)
G=0.113523/569 (1000Genomes)
G=0.125/5 (GENOME_DK)
G=0.131696/590 (Estonian)
G=0.161221/22559 (GnomAD)
G=0.162367/42977 (TOPMED)
G=0.186501/210 (Daghestan)
G=0.189815/41 (Qatari)
G=0.216667/130 (NorthernSweden)
G=0.219439/219 (GoNL)
G=0.228853/882 (ALSPAC)
G=0.2411/894 (TWINSUK)
G=0.390244/32 (PRJEB36033)
HGVS:: NC_000011.10:g.133842787G>A, NC_000011.10:g.133842787G>C, NC_000011.10:g.133842787G>T, NC_000011.9:g.133712682G>A, NC_000011.9:g.133712682G>C, NC_000011.9:g.133712682G>T

Select item 22500255.

rs2250025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:133841019 (GRCh38)
11:133710914 (GRCh37)
Canonical SPDI:: NC_000011.10:133841018:G:A,NC_000011.10:133841018:G:T
Gene:: SPATA19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.365328/73859 (ALFA)
A=0.184211/14 (PRJEB36033)
G=0.23913/11 (Siberian)
A=0.306166/81039 (TOPMED)
A=0.314706/44057 (GnomAD)
A=0.319239/604 (HapMap)
A=0.331355/1659 (1000Genomes)
A=0.337963/73 (Qatari)
A=0.348697/348 (GoNL)
G=0.350467/75 (Vietnamese)
G=0.36236/129 (SGDP_PRJ)
A=0.364078/1350 (TWINSUK)
A=0.378827/1460 (ALSPAC)
A=0.403551/841 (HGDP_Stanford)
G=0.409215/1199 (KOREAN)
G=0.420093/7040 (TOMMO)
A=0.428333/257 (NorthernSweden)
G=0.428493/785 (Korea1K)
A=0.462723/2073 (Estonian)
G=0.475/19 (GENOME_DK)
HGVS:: NC_000011.10:g.133841019G>A, NC_000011.10:g.133841019G>T, NC_000011.9:g.133710914G>A, NC_000011.9:g.133710914G>T

Select item 22501236.

rs2250123 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 11:133840901 (GRCh38)
11:133710796 (GRCh37)
Canonical SPDI:: NC_000011.10:133840900:T:A,NC_000011.10:133840900:T:C,NC_000011.10:133840900:T:G
Gene:: SPATA19 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.29799/47120 (ALFA)
G=0./0 (KOREAN)
C=0.157407/34 (Qatari)
C=0.250387/66275 (TOPMED)
C=0.258946/36227 (GnomAD)
C=0.259788/491 (HapMap)
C=0.282167/1413 (1000Genomes)
C=0.296593/296 (GoNL)
T=0.304348/14 (Siberian)
C=0.308252/1143 (TWINSUK)
C=0.309524/351 (Daghestan)
C=0.3137/1209 (ALSPAC)
C=0.343333/206 (NorthernSweden)
T=0.358491/76 (Vietnamese)
T=0.369128/110 (SGDP_PRJ)
C=0.425/17 (GENOME_DK)
C=0.433705/1943 (Estonian)
T=0.434567/7282 (TOMMO)
T=0.439956/806 (Korea1K)
HGVS:: NC_000011.10:g.133840901T>A, NC_000011.10:g.133840901T>C, NC_000011.10:g.133840901T>G, NC_000011.9:g.133710796T>A, NC_000011.9:g.133710796T>C, NC_000011.9:g.133710796T>G, NM_174927.3:c.*32A>T, NM_174927.3:c.*32A>G, NM_174927.3:c.*32A>C, NM_174927.2:c.*32A>T, NM_174927.2:c.*32A>G, NM_174927.2:c.*32A>C, NM_174927.1:c.*32A>T, NM_174927.1:c.*32A>G, NM_174927.1:c.*32A>C, XR_947806.2:n.603A>T, XR_947806.2:n.603A>G, XR_947806.2:n.603A>C, XR_947806.1:n.623A>T, XR_947806.1:n.623A>G, XR_947806.1:n.623A>C, XR_947807.2:n.603A>T, XR_947807.2:n.603A>G, XR_947807.2:n.603A>C, XR_947807.1:n.623A>T, XR_947807.1:n.623A>G, XR_947807.1:n.623A>C

Select item 22570047.

rs2257004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:133842578 (GRCh38)
11:133712473 (GRCh37)
Canonical SPDI:: NC_000011.10:133842577:C:A,NC_000011.10:133842577:C:G,NC_000011.10:133842577:C:T
Gene:: SPATA19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.361176/20288 (ALFA)
C=0.23913/11 (Siberian)
T=0.304324/3955 (GoESP)
T=0.30651/81130 (TOPMED)
T=0.314858/44065 (GnomAD)
T=0.320106/605 (HapMap)
T=0.324074/70 (Qatari)
T=0.33198/1663 (1000Genomes)
T=0.349699/349 (GoNL)
C=0.363128/130 (SGDP_PRJ)
C=0.363785/223 (Vietnamese)
T=0.365156/1354 (TWINSUK)
T=0.378604/45930 (ExAC)
T=0.379105/95304 (GnomAD_exomes)
T=0.379346/1462 (ALSPAC)
T=0.397004/212 (MGP)
C=0.408874/1198 (KOREAN)
T=0.428333/257 (NorthernSweden)
C=0.429039/786 (Korea1K)
T=0.462946/2074 (Estonian)
C=0.475/19 (GENOME_DK)
T=0.476974/145 (FINRISK)
HGVS:: NC_000011.10:g.133842578C>A, NC_000011.10:g.133842578C>G, NC_000011.10:g.133842578C>T, NC_000011.9:g.133712473C>A, NC_000011.9:g.133712473C>G, NC_000011.9:g.133712473C>T

Select item 22570108.

rs2257010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:133842453 (GRCh38)
11:133712348 (GRCh37)
Canonical SPDI:: NC_000011.10:133842452:G:A,NC_000011.10:133842452:G:C
Gene:: SPATA19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.354442/10013 (ALFA)
G=0.23913/11 (Siberian)
A=0.290397/3774 (GoESP)
A=0.292278/77363 (TOPMED)
A=0.301129/42134 (GnomAD)
A=0.310185/67 (Qatari)
A=0.318863/1597 (1000Genomes)
A=0.319876/103 (HapMap)
A=0.349699/349 (GoNL)
G=0.362857/127 (SGDP_PRJ)
A=0.364617/1352 (TWINSUK)
A=0.374262/45365 (ExAC)
A=0.375721/94312 (GnomAD_exomes)
A=0.379346/1462 (ALSPAC)
G=0.382403/226 (Vietnamese)
A=0.395131/211 (MGP)
G=0.409556/1200 (KOREAN)
G=0.420093/7040 (TOMMO)
A=0.426667/256 (NorthernSweden)
G=0.428493/785 (Korea1K)
A=0.462054/2070 (Estonian)
G=0.475/19 (GENOME_DK)
A=0.476974/145 (FINRISK)
HGVS:: NC_000011.10:g.133842453G>A, NC_000011.10:g.133842453G>C, NC_000011.9:g.133712348G>A, NC_000011.9:g.133712348G>C

Select item 22826019.

rs2282601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:133842699 (GRCh38)
11:133712594 (GRCh37)
Canonical SPDI:: NC_000011.10:133842698:C:A,NC_000011.10:133842698:C:G,NC_000011.10:133842698:C:T
Gene:: SPATA19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.227846/2854 (ALFA)
A=0.001024/3 (KOREAN)
C=0.23913/11 (Siberian)
G=0.306653/81168 (TOPMED)
G=0.324074/70 (Qatari)
G=0.33198/1663 (1000Genomes)
G=0.349699/349 (GoNL)
G=0.359551/192 (MGP)
G=0.363333/109 (HapMap)
C=0.363388/133 (SGDP_PRJ)
G=0.426667/256 (NorthernSweden)
G=0.462226/2068 (Estonian)
C=0.475/19 (GENOME_DK)
HGVS:: NC_000011.10:g.133842699C>A, NC_000011.10:g.133842699C>G, NC_000011.10:g.133842699C>T, NC_000011.9:g.133712594C>A, NC_000011.9:g.133712594C>G, NC_000011.9:g.133712594C>T

Select item 228260210.

rs2282602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:133844627 (GRCh38)
11:133714522 (GRCh37)
Canonical SPDI:: NC_000011.10:133844626:G:A,NC_000011.10:133844626:G:C
Gene:: SPATA19 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.370682/126691 (ALFA)
A=0.194444/14 (PRJEB36033)
G=0.23913/11 (Siberian)
A=0.2893/22765 (PAGE_STUDY)
A=0.304478/3957 (GoESP)
A=0.306185/81044 (TOPMED)
A=0.314558/44028 (GnomAD)
A=0.320825/607 (HapMap)
A=0.328704/71 (Qatari)
A=0.331199/1659 (1000Genomes)
A=0.349699/349 (GoNL)
G=0.363388/133 (SGDP_PRJ)
A=0.365426/1355 (TWINSUK)
A=0.378775/93078 (GnomAD_exomes)
A=0.379346/1462 (ALSPAC)
A=0.382482/45328 (ExAC)
G=0.388316/226 (Vietnamese)
A=0.398876/213 (MGP)
A=0.405379/844 (HGDP_Stanford)
G=0.408874/1198 (KOREAN)
A=0.412698/468 (Daghestan)
G=0.420093/7040 (TOMMO)
A=0.428333/257 (NorthernSweden)
G=0.428493/785 (Korea1K)
G=0.451777/356 (PRJEB37584)
A=0.462946/2074 (Estonian)
G=0.475/19 (GENOME_DK)
A=0.480132/145 (FINRISK)
HGVS:: NC_000011.10:g.133844627G>A, NC_000011.10:g.133844627G>C, NC_000011.9:g.133714522G>A, NC_000011.9:g.133714522G>C, NM_174927.3:c.149C>T, NM_174927.3:c.149C>G, NM_174927.2:c.149C>T, NM_174927.2:c.149C>G, NM_174927.1:c.149C>T, NM_174927.1:c.149C>G, XR_947806.2:n.216C>T, XR_947806.2:n.216C>G, XR_947806.1:n.236C>T, XR_947806.1:n.236C>G, XR_947807.2:n.216C>T, XR_947807.2:n.216C>G, XR_947807.1:n.236C>T, XR_947807.1:n.236C>G, NM_001291992.2:c.149C>T, NM_001291992.2:c.149C>G, NM_001291992.1:c.149C>T, NM_001291992.1:c.149C>G, NP_777587.1:p.Ala50Val, NP_777587.1:p.Ala50Gly, NP_001278921.1:p.Ala50Val, NP_001278921.1:p.Ala50Gly

Select item 228260311.

rs2282603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:133844648 (GRCh38)
11:133714543 (GRCh37)
Canonical SPDI:: NC_000011.10:133844647:G:A
Gene:: SPATA19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.047578/7868 (ALFA)
A=0.015/9 (NorthernSweden)
A=0.018973/85 (Estonian)
A=0.036072/36 (GoNL)
A=0.039474/12 (FINRISK)
A=0.041474/539 (GoESP)
A=0.04288/159 (TWINSUK)
A=0.044728/28 (Chileans)
A=0.046455/6510 (GnomAD)
A=0.048689/26 (MGP)
A=0.053191/205 (ALSPAC)
A=0.053984/14289 (TOPMED)
A=0.06159/7032 (ExAC)
A=0.062888/14285 (GnomAD_exomes)
A=0.0729/1222 (TOMMO)
A=0.075452/142 (HapMap)
A=0.087372/256 (KOREAN)
A=0.090725/454 (1000Genomes)
A=0.107533/197 (Korea1K)
A=0.111111/24 (Qatari)
A=0.158879/34 (Vietnamese)
G=0.393939/52 (SGDP_PRJ)
G=0.5/3 (Siberian)
HGVS:: NC_000011.10:g.133844648G>A, NC_000011.9:g.133714543G>A

Select item 228260412.

rs2282604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:133844777 (GRCh38)
11:133714672 (GRCh37)
Canonical SPDI:: NC_000011.10:133844776:A:G,NC_000011.10:133844776:A:T
Gene:: SPATA19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.357531/8959 (ALFA)
A=0.23913/11 (Siberian)
G=0.319517/84573 (TOPMED)
G=0.327674/45822 (GnomAD)
G=0.327843/617 (HapMap)
G=0.333333/72 (Qatari)
G=0.343379/1720 (1000Genomes)
G=0.354709/354 (GoNL)
A=0.357527/133 (SGDP_PRJ)
A=0.369159/79 (Vietnamese)
G=0.371359/1377 (TWINSUK)
G=0.384536/1482 (ALSPAC)
A=0.409215/1199 (KOREAN)
G=0.413738/259 (Chileans)
A=0.420306/7043 (TOMMO)
G=0.428333/257 (NorthernSweden)
A=0.428493/785 (Korea1K)
G=0.474107/2124 (Estonian)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000011.10:g.133844777A>G, NC_000011.10:g.133844777A>T, NC_000011.9:g.133714672A>G, NC_000011.9:g.133714672A>T

Select item 229873813.

rs2298738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:133845258 (GRCh38)
11:133715153 (GRCh37)
Canonical SPDI:: NC_000011.10:133845257:G:A,NC_000011.10:133845257:G:C,NC_000011.10:133845257:G:T
Gene:: SPATA19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000101/14 (GnomAD)
G=0.23913/11 (Siberian)
C=0.31889/84407 (TOPMED)
C=0.337963/73 (Qatari)
C=0.347826/112 (HapMap)
C=0.352705/352 (GoNL)
C=0.355232/1779 (1000Genomes)
G=0.356383/134 (SGDP_PRJ)
C=0.368393/1366 (TWINSUK)
C=0.3822/1473 (ALSPAC)
G=0.38388/1124 (KOREAN)
G=0.397926/729 (Korea1K)
G=0.399332/6692 (TOMMO)
C=0.411985/220 (MGP)
C=0.472991/2119 (Estonian)
G=0.475/19 (GENOME_DK)
HGVS:: NC_000011.10:g.133845258G>A, NC_000011.10:g.133845258G>C, NC_000011.10:g.133845258G>T, NC_000011.9:g.133715153G>A, NC_000011.9:g.133715153G>C, NC_000011.9:g.133715153G>T

Select item 272359814.

rs2723598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:133841757 (GRCh38)
11:133711652 (GRCh37)
Canonical SPDI:: NC_000011.10:133841756:G:A,NC_000011.10:133841756:G:C
Gene:: SPATA19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.337454/21539 (ALFA)
A=0.173077/36 (HapMap)
G=0.23913/11 (Siberian)
A=0.306139/81032 (TOPMED)
A=0.324074/70 (Qatari)
A=0.331355/1659 (1000Genomes)
A=0.349699/349 (GoNL)
G=0.363388/133 (SGDP_PRJ)
G=0.364486/78 (Vietnamese)
A=0.365156/1354 (TWINSUK)
A=0.379606/1463 (ALSPAC)
G=0.409215/1199 (KOREAN)
G=0.420058/7039 (TOMMO)
A=0.428333/257 (NorthernSweden)
G=0.428493/785 (Korea1K)
A=0.462946/2074 (Estonian)
G=0.475/19 (GENOME_DK)
HGVS:: NC_000011.10:g.133841757G>A, NC_000011.10:g.133841757G>C, NC_000011.9:g.133711652G>A, NC_000011.9:g.133711652G>C

Select item 272360515.

rs2723605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:133841346 (GRCh38)
11:133711241 (GRCh37)
Canonical SPDI:: NC_000011.10:133841345:C:A,NC_000011.10:133841345:C:G
Gene:: SPATA19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.366478/7139 (ALFA)
C=0.25/12 (Siberian)
G=0.329589/87239 (TOPMED)
G=0.333333/72 (Qatari)
G=0.337162/47206 (GnomAD)
G=0.354709/354 (GoNL)
G=0.357121/1788 (1000Genomes)
C=0.359043/135 (SGDP_PRJ)
G=0.360606/119 (HapMap)
C=0.363208/77 (Vietnamese)
G=0.37082/1375 (TWINSUK)
G=0.384017/1480 (ALSPAC)
C=0.409556/1200 (KOREAN)
C=0.420058/7039 (TOMMO)
G=0.428333/257 (NorthernSweden)
C=0.428493/785 (Korea1K)
C=0.475/19 (GENOME_DK)
G=0.475/2128 (Estonian)
HGVS:: NC_000011.10:g.133841346C>A, NC_000011.10:g.133841346C>G, NC_000011.9:g.133711241C>A, NC_000011.9:g.133711241C>G

Select item 272360716.

rs2723607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:133841123 (GRCh38)
11:133711018 (GRCh37)
Canonical SPDI:: NC_000011.10:133841122:C:A,NC_000011.10:133841122:C:G,NC_000011.10:133841122:C:T
Gene:: SPATA19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.246404/3426 (ALFA)
T=0./0 (KOREAN)
C=0.23913/11 (Siberian)
G=0.306086/81018 (TOPMED)
G=0.324074/70 (Qatari)
G=0.32622/107 (HapMap)
G=0.331355/1659 (1000Genomes)
C=0.357143/75 (Vietnamese)
C=0.363388/133 (SGDP_PRJ)
C=0.419987/7038 (TOMMO)
G=0.428333/257 (NorthernSweden)
C=0.428493/785 (Korea1K)
G=0.4625/2072 (Estonian)
C=0.475/19 (GENOME_DK)
HGVS:: NC_000011.10:g.133841123C>A, NC_000011.10:g.133841123C>G, NC_000011.10:g.133841123C>T, NC_000011.9:g.133711018C>A, NC_000011.9:g.133711018C>G, NC_000011.9:g.133711018C>T

Select item 272360817.

rs2723608 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:133840254 (GRCh38)
11:133710149 (GRCh37)
Canonical SPDI:: NC_000011.10:133840253:A:G,NC_000011.10:133840253:A:T
Gene:: SPATA19 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.365761/16212 (ALFA)
A=0.23913/11 (Siberian)
G=0.329408/87191 (TOPMED)
G=0.334521/46742 (GnomAD)
G=0.347222/75 (Qatari)
G=0.354709/354 (GoNL)
G=0.357277/1789 (1000Genomes)
A=0.359043/135 (SGDP_PRJ)
G=0.369202/1369 (TWINSUK)
A=0.377358/80 (Vietnamese)
G=0.383238/1477 (ALSPAC)
A=0.409215/1199 (KOREAN)
A=0.42027/7043 (TOMMO)
G=0.428333/257 (NorthernSweden)
A=0.429585/787 (Korea1K)
G=0.470536/2108 (Estonian)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000011.10:g.133840254A>G, NC_000011.10:g.133840254A>T, NC_000011.9:g.133710149A>G, NC_000011.9:g.133710149A>T

Select item 272360918.

rs2723609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:133839408 (GRCh38)
11:133709303 (GRCh37)
Canonical SPDI:: NC_000011.10:133839407:T:A
Gene:: SPATA19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.356263/6598 (ALFA)
A=0.30606/81011 (TOPMED)
A=0.314409/43984 (GnomAD)
A=0.33198/1663 (1000Genomes)
A=0.333333/72 (Qatari)
A=0.348697/348 (GoNL)
T=0.363388/133 (SGDP_PRJ)
T=0.408191/1196 (KOREAN)
T=0.420058/7039 (TOMMO)
T=0.428493/785 (Korea1K)
A=0.462946/2074 (Estonian)
HGVS:: NC_000011.10:g.133839408T>A, NC_000011.9:g.133709303T>A

Select item 272361019.

rs2723610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:133839214 (GRCh38)
11:133709109 (GRCh37)
Canonical SPDI:: NC_000011.10:133839213:A:G
Gene:: SPATA19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.34865/6457 (ALFA)
G=0.291598/77183 (TOPMED)
G=0.30037/42035 (GnomAD)
G=0.318395/1595 (1000Genomes)
G=0.324074/70 (Qatari)
A=0.362069/126 (SGDP_PRJ)
A=0.41058/1203 (KOREAN)
A=0.420023/7039 (TOMMO)
G=0.428333/257 (NorthernSweden)
A=0.429039/786 (Korea1K)
HGVS:: NC_000011.10:g.133839214A>G, NC_000011.9:g.133709109A>G

Select item 272361120.

rs2723611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:133838525 (GRCh38)
11:133708420 (GRCh37)
Canonical SPDI:: NC_000011.10:133838524:C:A,NC_000011.10:133838524:C:G,NC_000011.10:133838524:C:T
Gene:: SPATA19 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.365436/6553 (ALFA)
T=0.330145/87386 (TOPMED)
T=0.337515/47242 (GnomAD)
T=0.342593/74 (Qatari)
T=0.353707/353 (GoNL)
T=0.357901/1792 (1000Genomes)
C=0.359043/135 (SGDP_PRJ)
C=0.409898/1201 (KOREAN)
C=0.419987/7038 (TOMMO)
T=0.428333/257 (NorthernSweden)
C=0.428493/785 (Korea1K)
T=0.47433/2125 (Estonian)
HGVS:: NC_000011.10:g.133838525C>A, NC_000011.10:g.133838525C>G, NC_000011.10:g.133838525C>T, NC_000011.9:g.133708420C>A, NC_000011.9:g.133708420C>G, NC_000011.9:g.133708420C>T

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