ZNF295-AS1 - SNP

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Select item 2201951.

rs220195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 21:42014068 (GRCh38)
21:43434177 (GRCh37)
Canonical SPDI:: NC_000021.9:42014067:T:A,NC_000021.9:42014067:T:C
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.110241/3238 (ALFA)
T=0.083603/310 (TWINSUK)
T=0.083809/323 (ALSPAC)
T=0.092593/20 (Qatari)
T=0.102204/102 (GoNL)
T=0.110642/15506 (GnomAD)
T=0.116499/30836 (TOPMED)
T=0.125/5 (GENOME_DK)
T=0.133333/12 (PRJEB36033)
T=0.145038/76 (SGDP_PRJ)
T=0.151156/757 (1000Genomes)
T=0.168333/101 (NorthernSweden)
T=0.169196/758 (Estonian)
T=0.185185/10 (Siberian)
T=0.317757/68 (Vietnamese)
T=0.340614/998 (KOREAN)
T=0.352074/645 (Korea1K)
T=0.421332/7062 (TOMMO)
HGVS:: NC_000021.9:g.42014068T>A, NC_000021.9:g.42014068T>C, NC_000021.8:g.43434177T>A, NC_000021.8:g.43434177T>C

Select item 2201962.

rs220196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42014253 (GRCh38)
21:43434362 (GRCh37)
Canonical SPDI:: NC_000021.9:42014252:C:T
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.264531/6681 (ALFA)
T=0.056604/12 (Vietnamese)
T=0.056769/104 (Korea1K)
T=0.068942/202 (KOREAN)
T=0.072369/1213 (TOMMO)
T=0.216667/130 (NorthernSweden)
T=0.233136/1168 (1000Genomes)
T=0.236196/77 (HapMap)
T=0.2375/1064 (Estonian)
T=0.255936/35849 (GnomAD)
T=0.258068/68308 (TOPMED)
T=0.275/11 (GENOME_DK)
T=0.280747/1082 (ALSPAC)
T=0.281284/1043 (TWINSUK)
T=0.293587/293 (GoNL)
C=0.416667/10 (Siberian)
C=0.424731/79 (SGDP_PRJ)
T=0.462963/100 (Qatari)
HGVS:: NC_000021.9:g.42014253C>T, NC_000021.8:g.43434362C>T

Select item 2201973.

rs220197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 21:42017777 (GRCh38)
21:43437886 (GRCh37)
Canonical SPDI:: NC_000021.9:42017776:A:C,NC_000021.9:42017776:A:G,NC_000021.9:42017776:A:T
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.075/3 (GENOME_DK)
A=0.122244/122 (GoNL)
A=0.125/27 (Qatari)
A=0.12918/479 (TWINSUK)
A=0.131292/506 (ALSPAC)
A=0.16/8 (Siberian)
A=0.16/96 (NorthernSweden)
A=0.162723/729 (Estonian)
A=0.185587/49123 (TOPMED)
A=0.206967/101 (SGDP_PRJ)
A=0.245455/81 (HapMap)
A=0.253904/1272 (1000Genomes)
A=0.41531/6961 (TOMMO)
G=0.476528/873 (Korea1K)
G=0.476792/1397 (KOREAN)
A=0.5/105 (Vietnamese)
HGVS:: NC_000021.9:g.42017777A>C, NC_000021.9:g.42017777A>G, NC_000021.9:g.42017777A>T, NC_000021.8:g.43437886A>C, NC_000021.8:g.43437886A>G, NC_000021.8:g.43437886A>T

Select item 2201984.

rs220198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:42018565 (GRCh38)
21:43438674 (GRCh37)
Canonical SPDI:: NC_000021.9:42018564:A:C,NC_000021.9:42018564:A:G
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.309558/68629 (ALFA)
C=0.058228/46 (PRJEB37584)
C=0.062773/115 (Korea1K)
C=0.072115/15 (Vietnamese)
C=0.077474/227 (KOREAN)
C=0.078739/1320 (TOMMO)
C=0.20666/391 (HapMap)
C=0.228743/17965 (PAGE_STUDY)
C=0.236259/1183 (1000Genomes)
C=0.243762/508 (HGDP_Stanford)
C=0.263333/158 (NorthernSweden)
C=0.270086/71489 (TOPMED)
C=0.285268/1278 (Estonian)
C=0.299622/1111 (TWINSUK)
C=0.311111/28 (PRJEB36033)
C=0.314629/314 (GoNL)
C=0.319668/1232 (ALSPAC)
C=0.347222/75 (Qatari)
C=0.35/14 (GENOME_DK)
A=0.375/12 (Siberian)
A=0.391753/76 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42018565A>C, NC_000021.9:g.42018565A>G, NC_000021.8:g.43438674A>C, NC_000021.8:g.43438674A>G

Select item 2201995.

rs220199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42018622 (GRCh38)
21:43438731 (GRCh37)
Canonical SPDI:: NC_000021.9:42018621:A:G
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.299576/5659 (ALFA)
G=0.062773/115 (Korea1K)
G=0.070093/15 (Vietnamese)
G=0.077474/227 (KOREAN)
G=0.078668/1318 (TOMMO)
G=0.248485/82 (HapMap)
G=0.263333/158 (NorthernSweden)
G=0.271237/1358 (1000Genomes)
G=0.276596/26 (PRJEB36033)
G=0.285714/1280 (Estonian)
G=0.294916/41310 (GnomAD)
G=0.298813/1108 (TWINSUK)
G=0.298893/79114 (TOPMED)
G=0.315631/315 (GoNL)
G=0.317852/1225 (ALSPAC)
G=0.35/14 (GENOME_DK)
G=0.356481/77 (Qatari)
A=0.375/12 (Siberian)
A=0.39/78 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42018622A>G, NC_000021.8:g.43438731A>G

Select item 2202006.

rs220200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42018639 (GRCh38)
21:43438748 (GRCh37)
Canonical SPDI:: NC_000021.9:42018638:G:A
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.307705/9497 (ALFA)
A=0.062773/115 (Korea1K)
A=0.07619/16 (Vietnamese)
A=0.077474/227 (KOREAN)
A=0.078703/1319 (TOMMO)
A=0.204082/20 (PRJEB36033)
A=0.245455/81 (HapMap)
A=0.263333/158 (NorthernSweden)
A=0.270924/1357 (1000Genomes)
A=0.283929/1272 (Estonian)
A=0.294526/41236 (GnomAD)
A=0.298004/1105 (TWINSUK)
A=0.298493/79008 (TOPMED)
A=0.314629/314 (GoNL)
A=0.316554/1220 (ALSPAC)
A=0.35/14 (GENOME_DK)
A=0.356481/77 (Qatari)
G=0.375/12 (Siberian)
G=0.387755/76 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42018639G>A, NC_000021.8:g.43438748G>A

Select item 2202017.

rs220201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 21:42018657 (GRCh38)
21:43438766 (GRCh37)
Canonical SPDI:: NC_000021.9:42018656:T:A,NC_000021.9:42018656:T:G
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.180071/2418 (ALFA)
G=0.062773/115 (Korea1K)
G=0.066667/6 (HapMap)
G=0.07619/16 (Vietnamese)
G=0.077133/226 (KOREAN)
G=0.078703/1319 (TOMMO)
G=0.263333/158 (NorthernSweden)
G=0.271237/1358 (1000Genomes)
G=0.285045/1277 (Estonian)
G=0.298274/1106 (TWINSUK)
G=0.298613/79040 (TOPMED)
G=0.314629/314 (GoNL)
G=0.316035/1218 (ALSPAC)
G=0.35/14 (GENOME_DK)
G=0.356481/77 (Qatari)
T=0.375/12 (Siberian)
T=0.388889/77 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42018657T>A, NC_000021.9:g.42018657T>G, NC_000021.8:g.43438766T>A, NC_000021.8:g.43438766T>G

Select item 2202028.

rs220202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42018672 (GRCh38)
21:43438781 (GRCh37)
Canonical SPDI:: NC_000021.9:42018671:C:T
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.298994/5648 (ALFA)
T=0.062773/115 (Korea1K)
T=0.076923/16 (Vietnamese)
T=0.077474/227 (KOREAN)
T=0.078739/1320 (TOMMO)
T=0.248485/82 (HapMap)
T=0.263333/158 (NorthernSweden)
T=0.271237/1358 (1000Genomes)
T=0.282051/22 (PRJEB36033)
T=0.285268/1278 (Estonian)
T=0.294613/41257 (GnomAD)
T=0.298544/1107 (TWINSUK)
T=0.298557/79025 (TOPMED)
T=0.314629/314 (GoNL)
T=0.316295/1219 (ALSPAC)
T=0.35/14 (GENOME_DK)
T=0.356481/77 (Qatari)
C=0.375/12 (Siberian)
C=0.388889/77 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42018672C>T, NC_000021.8:g.43438781C>T

Select item 2202039.

rs220203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42018772 (GRCh38)
21:43438881 (GRCh37)
Canonical SPDI:: NC_000021.9:42018771:A:G
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.304288/5748 (ALFA)
G=0.062773/115 (Korea1K)
G=0.070093/15 (Vietnamese)
G=0.077474/227 (KOREAN)
G=0.078739/1320 (TOMMO)
G=0.114286/8 (HapMap)
G=0.265/159 (NorthernSweden)
G=0.283573/1420 (1000Genomes)
G=0.285268/1278 (Estonian)
G=0.300431/1114 (TWINSUK)
G=0.304591/42689 (GnomAD)
G=0.309056/81804 (TOPMED)
G=0.313627/313 (GoNL)
G=0.319408/1231 (ALSPAC)
G=0.35/14 (GENOME_DK)
G=0.356481/77 (Qatari)
A=0.375/12 (Siberian)
A=0.392157/80 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42018772A>G, NC_000021.8:g.43438881A>G

Select item 22020410.

rs220204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:42018789 (GRCh38)
21:43438898 (GRCh37)
Canonical SPDI:: NC_000021.9:42018788:G:T
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.311801/11599 (ALFA)
T=0.056818/5 (HapMap)
T=0.062773/115 (Korea1K)
T=0.069444/15 (Vietnamese)
T=0.077474/227 (KOREAN)
T=0.078703/1319 (TOMMO)
T=0.265/159 (NorthernSweden)
T=0.28326/1419 (1000Genomes)
T=0.285491/1279 (Estonian)
T=0.300431/1114 (TWINSUK)
T=0.304787/42700 (GnomAD)
T=0.308958/81778 (TOPMED)
T=0.313627/313 (GoNL)
T=0.319408/1231 (ALSPAC)
T=0.35/14 (GENOME_DK)
T=0.356481/77 (Qatari)
G=0.375/12 (Siberian)
G=0.392157/80 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42018789G>T, NC_000021.8:g.43438898G>T

Select item 22020511.

rs220205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:42018846 (GRCh38)
21:43438955 (GRCh37)
Canonical SPDI:: NC_000021.9:42018845:G:A,NC_000021.9:42018845:G:C
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.307455/6665 (ALFA)
A=0.062773/115 (Korea1K)
A=0.077474/227 (KOREAN)
A=0.078704/17 (Vietnamese)
A=0.078845/1321 (TOMMO)
A=0.256098/84 (HapMap)
A=0.265/159 (NorthernSweden)
A=0.28326/1419 (1000Genomes)
A=0.284821/1276 (Estonian)
A=0.304844/42694 (GnomAD)
A=0.308984/81785 (TOPMED)
A=0.313627/313 (GoNL)
A=0.35/14 (GENOME_DK)
A=0.353261/390 (Daghestan)
A=0.356481/77 (Qatari)
G=0.375/12 (Siberian)
G=0.391089/79 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42018846G>A, NC_000021.9:g.42018846G>C, NC_000021.8:g.43438955G>A, NC_000021.8:g.43438955G>C

Select item 22020612.

rs220206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 21:42019336 (GRCh38)
21:43439445 (GRCh37)
Canonical SPDI:: NC_000021.9:42019335:G:A,NC_000021.9:42019335:G:C,NC_000021.9:42019335:G:T
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.062773/115 (Korea1K)
C=0.074766/16 (Vietnamese)
C=0.078157/229 (KOREAN)
C=0.251534/82 (HapMap)
C=0.265/159 (NorthernSweden)
C=0.271081/1358 (1000Genomes)
C=0.285045/1277 (Estonian)
C=0.298587/79033 (TOPMED)
C=0.300162/1113 (TWINSUK)
C=0.313627/313 (GoNL)
C=0.319927/1233 (ALSPAC)
C=0.35/14 (GENOME_DK)
C=0.356481/77 (Qatari)
G=0.375/12 (Siberian)
G=0.387755/76 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42019336G>A, NC_000021.9:g.42019336G>C, NC_000021.9:g.42019336G>T, NC_000021.8:g.43439445G>A, NC_000021.8:g.43439445G>C, NC_000021.8:g.43439445G>T

Select item 22020713.

rs220207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:42019511 (GRCh38)
21:43439620 (GRCh37)
Canonical SPDI:: NC_000021.9:42019510:A:C,NC_000021.9:42019510:A:G
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.493129/61504 (ALFA)
G=0.112628/330 (KOREAN)
G=0.14679/2460 (TOMMO)
G=0.152381/32 (Vietnamese)
G=0.317553/597 (HapMap)
A=0.342105/13 (Siberian)
G=0.349038/726 (HGDP_Stanford)
A=0.350365/96 (SGDP_PRJ)
G=0.378045/1893 (1000Genomes)
G=0.398148/86 (Qatari)
A=0.4/16 (GENOME_DK)
G=0.433549/114756 (TOPMED)
A=0.4375/28 (PRJEB36033)
A=0.485972/485 (GoNL)
G=0.487723/2185 (Estonian)
G=0.495/297 (NorthernSweden)
HGVS:: NC_000021.9:g.42019511A>C, NC_000021.9:g.42019511A>G, NC_000021.8:g.43439620A>C, NC_000021.8:g.43439620A>G

Select item 22020814.

rs220208 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42019570 (GRCh38)
21:43439679 (GRCh37)
Canonical SPDI:: NC_000021.9:42019569:T:C
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.298941/5647 (ALFA)
C=0.062773/115 (Korea1K)
C=0.074766/16 (Vietnamese)
C=0.077474/227 (KOREAN)
C=0.078774/1320 (TOMMO)
C=0.254658/82 (HapMap)
C=0.265/159 (NorthernSweden)
C=0.271237/1358 (1000Genomes)
C=0.285045/1277 (Estonian)
C=0.294762/41282 (GnomAD)
C=0.298587/79033 (TOPMED)
C=0.300431/1114 (TWINSUK)
C=0.313627/313 (GoNL)
C=0.319927/1233 (ALSPAC)
C=0.35/14 (GENOME_DK)
C=0.356481/77 (Qatari)
T=0.375/12 (Siberian)
T=0.39/78 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42019570T>C, NC_000021.8:g.43439679T>C

Select item 22020915.

rs220209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:42019623 (GRCh38)
21:43439732 (GRCh37)
Canonical SPDI:: NC_000021.9:42019622:G:A,NC_000021.9:42019622:G:C
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.010399/363 (ALFA)
A=0.00558/25 (Estonian)
A=0.007495/38 (1000Genomes)
A=0.012078/3197 (TOPMED)
A=0.012121/4 (HapMap)
A=0.015309/59 (ALSPAC)
A=0.016451/61 (TWINSUK)
A=0.023333/14 (NorthernSweden)
A=0.02505/25 (GoNL)
A=0.050926/11 (Qatari)
G=0.5/6 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42019623G>A, NC_000021.9:g.42019623G>C, NC_000021.8:g.43439732G>A, NC_000021.8:g.43439732G>C

Select item 22021016.

rs220210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42019711 (GRCh38)
21:43439820 (GRCh37)
Canonical SPDI:: NC_000021.9:42019710:C:T
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.296174/7091 (ALFA)
T=0.062227/114 (Korea1K)
T=0.074074/16 (Vietnamese)
T=0.076792/225 (KOREAN)
T=0.078668/1318 (TOMMO)
T=0.231423/436 (HapMap)
T=0.263333/158 (NorthernSweden)
T=0.270144/1353 (1000Genomes)
T=0.283705/1271 (Estonian)
T=0.294262/41235 (GnomAD)
T=0.298126/78911 (TOPMED)
T=0.300431/1114 (TWINSUK)
T=0.312625/312 (GoNL)
T=0.319927/1233 (ALSPAC)
T=0.329073/206 (Chileans)
T=0.35/14 (GENOME_DK)
T=0.356481/77 (Qatari)
C=0.375/12 (Siberian)
C=0.387755/76 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42019711C>T, NC_000021.8:g.43439820C>T

Select item 22021117.

rs220211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42019933 (GRCh38)
21:43440042 (GRCh37)
Canonical SPDI:: NC_000021.9:42019932:G:A
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.307179/9482 (ALFA)
A=0.0625/5 (HapMap)
A=0.062773/115 (Korea1K)
A=0.065421/14 (Vietnamese)
A=0.077474/227 (KOREAN)
A=0.078703/1319 (TOMMO)
A=0.263333/158 (NorthernSweden)
A=0.269988/1352 (1000Genomes)
A=0.284375/1274 (Estonian)
A=0.294226/41201 (GnomAD)
A=0.297828/78832 (TOPMED)
A=0.300162/1113 (TWINSUK)
A=0.312625/312 (GoNL)
A=0.319408/1231 (ALSPAC)
A=0.35/14 (GENOME_DK)
A=0.356481/77 (Qatari)
G=0.375/12 (Siberian)
G=0.392857/77 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42019933G>A, NC_000021.8:g.43440042G>A

Select item 22021218.

rs220212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42020048 (GRCh38)
21:43440157 (GRCh37)
Canonical SPDI:: NC_000021.9:42020047:T:C
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.051612/7430 (ALFA)
T=0./0 (GENOME_DK)
T=0.027778/6 (Qatari)
T=0.045759/205 (Estonian)
T=0.051752/7259 (GnomAD)
T=0.053937/200 (TWINSUK)
T=0.057602/222 (ALSPAC)
T=0.057618/15251 (TOPMED)
T=0.058333/35 (NorthernSweden)
T=0.061122/61 (GoNL)
T=0.104934/526 (1000Genomes)
T=0.11284/58 (SGDP_PRJ)
T=0.153846/8 (Siberian)
T=0.175/231 (HapMap)
T=0.330384/5537 (TOMMO)
T=0.410377/87 (Vietnamese)
T=0.430677/789 (Korea1K)
T=0.436519/1279 (KOREAN)
HGVS:: NC_000021.9:g.42020048T>C, NC_000021.8:g.43440157T>C

Select item 22021319.

rs220213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42020119 (GRCh38)
21:43440228 (GRCh37)
Canonical SPDI:: NC_000021.9:42020118:C:T
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.251995/9728 (ALFA)
T=0.062773/115 (Korea1K)
T=0.077474/227 (KOREAN)
T=0.078703/1319 (TOMMO)
T=0.078704/17 (Vietnamese)
T=0.23545/445 (HapMap)
T=0.263333/158 (NorthernSweden)
T=0.270768/1356 (1000Genomes)
T=0.284598/1275 (Estonian)
T=0.29426/41234 (GnomAD)
T=0.298043/78889 (TOPMED)
T=0.301241/1117 (TWINSUK)
T=0.312625/312 (GoNL)
T=0.319927/1233 (ALSPAC)
T=0.330671/207 (Chileans)
T=0.333333/32 (PRJEB36033)
T=0.35/14 (GENOME_DK)
T=0.361111/78 (Qatari)
C=0.375/12 (Siberian)
C=0.387755/76 (SGDP_PRJ)
HGVS:: NC_000021.9:g.42020119C>T, NC_000021.8:g.43440228C>T

Select item 22021420.

rs220214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42020127 (GRCh38)
21:43440236 (GRCh37)
Canonical SPDI:: NC_000021.9:42020126:A:G
Gene:: ZNF295-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001323/25 (ALFA)
G=0.000625/3 (1000Genomes)
G=0.00067/3 (Estonian)
G=0.001145/303 (TOPMED)
G=0.001319/185 (GnomAD)
G=0.001557/6 (ALSPAC)
G=0.001618/6 (TWINSUK)
G=0.002004/2 (GoNL)
G=0.006667/4 (NorthernSweden)
HGVS:: NC_000021.9:g.42020127A>G, NC_000021.8:g.43440236A>G

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