ZSCAN1 - SNP

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Select item 764633841.

rs76463384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58038004 (GRCh38)
19:58549372 (GRCh37)
Canonical SPDI:: NC_000019.10:58038003:G:A
Gene:: ZSCAN1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00799/356 (ALFA)
A=0.000809/3 (TWINSUK)
A=0.001038/4 (ALSPAC)
A=0.007148/1718 (GnomAD_exomes)
A=0.008139/908 (ExAC)
A=0.009259/2 (Qatari)
A=0.027724/3889 (GnomAD)
A=0.028543/369 (GoESP)
A=0.02982/7893 (TOPMED)
A=0.03045/152 (1000Genomes)
G=0.4/8 (SGDP_PRJ)
HGVS:: NC_000019.10:g.58038004G>A, NC_000019.9:g.58549372G>A, NM_182572.4:c.168G>A, NM_182572.3:c.168G>A, XM_006723149.3:c.288G>A, XM_006723149.2:c.288G>A, XM_006723149.1:c.288G>A

Select item 1598702.

rs159870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:58037998 (GRCh38)
19:58549366 (GRCh37)
Canonical SPDI:: NC_000019.10:58037997:C:G
Gene:: ZSCAN1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.323072/9981 (ALFA)
C=0.25/54 (Qatari)
C=0.276667/166 (NorthernSweden)
C=0.282222/127 (SGDP_PRJ)
C=0.286138/1061 (TWINSUK)
C=0.291391/88 (FINRISK)
C=0.29424/1134 (ALSPAC)
C=0.305242/3948 (GoESP)
C=0.311254/43608 (GnomAD)
C=0.31215/82623 (TOPMED)
C=0.3125/15 (Siberian)
C=0.31263/35119 (ExAC)
C=0.31326/74537 (GnomAD_exomes)
C=0.322768/1446 (Estonian)
C=0.349001/1748 (1000Genomes)
G=0.350467/75 (Vietnamese)
C=0.4/16 (GENOME_DK)
G=0.460246/822 (Korea1K)
G=0.466091/7810 (TOMMO)
G=0.479381/1395 (KOREAN)
HGVS:: NC_000019.10:g.58037998C>G, NC_000019.9:g.58549366C>G, NM_182572.4:c.162C>G, NM_182572.3:c.162C>G, XM_006723149.3:c.282C>G, XM_006723149.2:c.282C>G, XM_006723149.1:c.282C>G

Select item 1598713.

rs159871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:58038913 (GRCh38)
19:58550281 (GRCh37)
Canonical SPDI:: NC_000019.10:58038912:G:C
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.315723/5964 (ALFA)
G=0.259259/56 (Qatari)
G=0.276018/122 (SGDP_PRJ)
G=0.283333/170 (NorthernSweden)
G=0.286677/1063 (TWINSUK)
G=0.29424/1134 (ALSPAC)
G=0.314629/314 (GoNL)
G=0.323683/45370 (GnomAD)
G=0.326204/86343 (TOPMED)
G=0.333482/1494 (Estonian)
G=0.347826/16 (Siberian)
C=0.349057/74 (Vietnamese)
G=0.362805/119 (HapMap)
G=0.364147/1824 (1000Genomes)
G=0.4/16 (GENOME_DK)
C=0.454951/7625 (TOMMO)
C=0.455786/835 (Korea1K)
C=0.465777/1361 (KOREAN)
HGVS:: NC_000019.10:g.58038913G>C, NC_000019.9:g.58550281G>C

Select item 1598724.

rs159872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:58036081 (GRCh38)
19:58547449 (GRCh37)
Canonical SPDI:: NC_000019.10:58036080:C:A
Gene:: ZSCAN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.293298/63692 (ALFA)
C=0.170213/16 (PRJEB36033)
C=0.273148/59 (Qatari)
C=0.278333/167 (NorthernSweden)
C=0.282511/126 (SGDP_PRJ)
C=0.286408/1062 (TWINSUK)
C=0.291667/14 (Siberian)
C=0.29398/1133 (ALSPAC)
C=0.316633/316 (GoNL)
C=0.323437/1449 (Estonian)
C=0.326179/45665 (GnomAD)
C=0.329079/87104 (TOPMED)
A=0.355769/74 (Vietnamese)
C=0.360994/683 (HapMap)
C=0.367583/1841 (1000Genomes)
C=0.373326/29377 (PAGE_STUDY)
C=0.376923/784 (HGDP_Stanford)
C=0.4/16 (GENOME_DK)
A=0.463974/850 (Korea1K)
A=0.465461/7801 (TOMMO)
A=0.474675/1387 (KOREAN)
C=0.497462/392 (PRJEB37584)
HGVS:: NC_000019.10:g.58036081C>A, NC_000019.9:g.58547449C>A, XM_006723149.3:c.-402C>A, XM_006723149.2:c.-402C>A, XM_006723149.1:c.-402C>A

LitVar

Select item 1598735.

rs159873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:58036148 (GRCh38)
19:58547516 (GRCh37)
Canonical SPDI:: NC_000019.10:58036147:G:A,NC_000019.10:58036147:G:C
Gene:: ZSCAN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.325947/6678 (ALFA)
G=0.176471/12 (PRJEB36033)
G=0.273148/59 (Qatari)
G=0.278333/167 (NorthernSweden)
G=0.282511/126 (SGDP_PRJ)
G=0.286408/1062 (TWINSUK)
G=0.291667/14 (Siberian)
G=0.29424/1134 (ALSPAC)
G=0.316633/316 (GoNL)
G=0.322545/1445 (Estonian)
G=0.326165/45654 (GnomAD)
G=0.329249/87149 (TOPMED)
G=0.366177/1834 (1000Genomes)
G=0.4/16 (GENOME_DK)
A=0.459607/842 (Korea1K)
A=0.472279/1380 (KOREAN)
A=0.474025/7945 (TOMMO)
HGVS:: NC_000019.10:g.58036148G>A, NC_000019.10:g.58036148G>C, NC_000019.9:g.58547516G>A, NC_000019.9:g.58547516G>C, XM_006723149.3:c.-335G>A, XM_006723149.3:c.-335G>C, XM_006723149.2:c.-335G>A, XM_006723149.2:c.-335G>C, XM_006723149.1:c.-335G>A, XM_006723149.1:c.-335G>C

Select item 1598746.

rs159874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:58037063 (GRCh38)
19:58548431 (GRCh37)
Canonical SPDI:: NC_000019.10:58037062:T:C
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.089685/3031 (ALFA)
T=0.069444/15 (Qatari)
T=0.07/42 (NorthernSweden)
T=0.081162/81 (GoNL)
T=0.087918/326 (TWINSUK)
T=0.087961/339 (ALSPAC)
T=0.097958/13727 (GnomAD)
T=0.103795/465 (Estonian)
T=0.105769/27996 (TOPMED)
T=0.14898/73 (SGDP_PRJ)
T=0.15/6 (GENOME_DK)
T=0.158898/300 (HapMap)
T=0.195659/980 (1000Genomes)
T=0.22/11 (Siberian)
C=0.359813/77 (Vietnamese)
C=0.465066/852 (Korea1K)
C=0.467868/7841 (TOMMO)
C=0.476044/1391 (KOREAN)
HGVS:: NC_000019.10:g.58037063T>C, NC_000019.9:g.58548431T>C

Select item 1697767.

rs169776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 19:58039068 (GRCh38)
19:58550436 (GRCh37)
Canonical SPDI:: NC_000019.10:58039067:A:C,NC_000019.10:58039067:A:G,NC_000019.10:58039067:A:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.092871/3916 (ALFA)
T=0./0 (KOREAN)
A=0.060185/13 (Qatari)
A=0.07/42 (NorthernSweden)
A=0.08016/80 (GoNL)
A=0.087701/338 (ALSPAC)
A=0.087918/326 (TWINSUK)
A=0.097871/13729 (GnomAD)
A=0.103795/465 (Estonian)
A=0.105501/27925 (TOPMED)
A=0.144898/71 (SGDP_PRJ)
A=0.15/6 (GENOME_DK)
A=0.161491/52 (HapMap)
A=0.194722/975 (1000Genomes)
A=0.24/12 (Siberian)
G=0.37619/79 (Vietnamese)
G=0.469978/861 (Korea1K)
G=0.473636/7938 (TOMMO)
HGVS:: NC_000019.10:g.58039068A>C, NC_000019.10:g.58039068A>G, NC_000019.10:g.58039068A>T, NC_000019.9:g.58550436A>C, NC_000019.9:g.58550436A>G, NC_000019.9:g.58550436A>T

Select item 1841288.

rs184128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:58037392 (GRCh38)
19:58548760 (GRCh37)
Canonical SPDI:: NC_000019.10:58037391:A:G
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.289144/9780 (ALFA)
A=0.259259/56 (Qatari)
A=0.265351/121 (SGDP_PRJ)
A=0.276667/166 (NorthernSweden)
A=0.28452/1055 (TWINSUK)
A=0.285126/75470 (TOPMED)
A=0.285131/39782 (GnomAD)
A=0.291126/1122 (ALSPAC)
A=0.311111/588 (HapMap)
A=0.3125/15 (Siberian)
A=0.315631/315 (GoNL)
A=0.320581/1605 (1000Genomes)
A=0.323214/1448 (Estonian)
A=0.4/16 (GENOME_DK)
G=0.466157/854 (Korea1K)
G=0.468361/7850 (TOMMO)
G=0.479452/1400 (KOREAN)
HGVS:: NC_000019.10:g.58037392A>G, NC_000019.9:g.58548760A>G

Select item 1933909.

rs193390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:58037290 (GRCh38)
19:58548658 (GRCh37)
Canonical SPDI:: NC_000019.10:58037289:C:A,NC_000019.10:58037289:C:G,NC_000019.10:58037289:C:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.16087/1952 (ALFA)
C=0.07/42 (NorthernSweden)
C=0.081162/81 (GoNL)
C=0.097222/21 (Qatari)
C=0.103795/465 (Estonian)
C=0.15/6 (GENOME_DK)
C=0.184899/48941 (TOPMED)
C=0.205021/98 (SGDP_PRJ)
C=0.22/11 (Siberian)
C=0.270899/512 (HapMap)
C=0.277171/1388 (1000Genomes)
C=0.284676/22404 (PAGE_STUDY)
T=0.363208/77 (Vietnamese)
T=0.465066/852 (Korea1K)
T=0.467832/7841 (TOMMO)
T=0.478782/1399 (KOREAN)
HGVS:: NC_000019.10:g.58037290C>A, NC_000019.10:g.58037290C>G, NC_000019.10:g.58037290C>T, NC_000019.9:g.58548658C>A, NC_000019.9:g.58548658C>G, NC_000019.9:g.58548658C>T

Select item 29282710.

rs292827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58033104 (GRCh38)
19:58544472 (GRCh37)
Canonical SPDI:: NC_000019.10:58033103:G:A
Gene:: ZSCAN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.327031/6175 (ALFA)
G=0.268519/58 (Qatari)
G=0.281667/169 (NorthernSweden)
G=0.285388/125 (SGDP_PRJ)
G=0.286947/1064 (TWINSUK)
G=0.291667/14 (Siberian)
G=0.29398/1133 (ALSPAC)
A=0.313131/62 (Vietnamese)
G=0.316633/316 (GoNL)
G=0.327594/1465 (Estonian)
G=0.346854/48022 (GnomAD)
G=0.352956/93424 (TOPMED)
G=0.396002/1983 (1000Genomes)
G=0.4/16 (GENOME_DK)
A=0.448549/7500 (TOMMO)
A=0.456332/836 (Korea1K)
A=0.466781/1363 (KOREAN)
HGVS:: NC_000019.10:g.58033104G>A, NC_000019.9:g.58544472G>A

Select item 29282811.

rs292828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:58033765 (GRCh38)
19:58545133 (GRCh37)
Canonical SPDI:: NC_000019.10:58033764:T:C
Gene:: ZSCAN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.089943/12941 (ALFA)
T=0.069444/15 (Qatari)
T=0.07/42 (NorthernSweden)
T=0.087442/337 (ALSPAC)
T=0.088727/329 (TWINSUK)
T=0.097889/13728 (GnomAD)
T=0.103795/465 (Estonian)
T=0.105724/27984 (TOPMED)
T=0.147541/72 (SGDP_PRJ)
T=0.15/6 (GENOME_DK)
T=0.157672/298 (HapMap)
T=0.19441/974 (1000Genomes)
T=0.22/11 (Siberian)
C=0.359813/77 (Vietnamese)
C=0.463974/850 (Korea1K)
C=0.468257/7848 (TOMMO)
C=0.475342/1388 (KOREAN)
HGVS:: NC_000019.10:g.58033765T>C, NC_000019.9:g.58545133T>C

Select item 29534912.

rs295349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58047876 (GRCh38)
19:58559244 (GRCh37)
Canonical SPDI:: NC_000019.10:58047875:C:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001872/27 (ALFA)
T=0./0 (HapMap)
T=0.001562/8 (1000Genomes)
T=0.002317/325 (GnomAD)
T=0.002482/657 (TOPMED)
HGVS:: NC_000019.10:g.58047876C>T, NC_000019.9:g.58559244C>T, NG_007659.1:g.3537C>T

Select item 38470213.

rs384702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:58041433 (GRCh38)
19:58552801 (GRCh37)
Canonical SPDI:: NC_000019.10:58041432:A:G
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.092853/1754 (ALFA)
A=0.061667/37 (NorthernSweden)
A=0.064815/14 (Qatari)
A=0.077154/77 (GoNL)
A=0.086144/332 (ALSPAC)
A=0.0863/320 (TWINSUK)
A=0.094915/13312 (GnomAD)
A=0.099777/447 (Estonian)
A=0.103657/27437 (TOPMED)
A=0.15/6 (GENOME_DK)
A=0.15102/74 (SGDP_PRJ)
A=0.20253/1014 (1000Genomes)
A=0.24/12 (Siberian)
G=0.373832/80 (Vietnamese)
G=0.463974/850 (Korea1K)
G=0.467372/7833 (TOMMO)
G=0.477055/1393 (KOREAN)
HGVS:: NC_000019.10:g.58041433A>G, NC_000019.9:g.58552801A>G

Select item 40875114.

rs408751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:58042541 (GRCh38)
19:58553909 (GRCh37)
Canonical SPDI:: NC_000019.10:58042540:G:A,NC_000019.10:58042540:G:C,NC_000019.10:58042540:G:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.08/48 (NorthernSweden)
G=0.1002/100 (GoNL)
G=0.101972/393 (ALSPAC)
G=0.106526/395 (TWINSUK)
G=0.112277/503 (Estonian)
G=0.117345/31060 (TOPMED)
G=0.134259/29 (Qatari)
G=0.159184/78 (SGDP_PRJ)
G=0.175/7 (GENOME_DK)
G=0.209869/1344 (1000Genomes)
G=0.24/12 (Siberian)
T=0.373832/80 (Vietnamese)
T=0.478097/1397 (KOREAN)
HGVS:: NC_000019.10:g.58042541G>A, NC_000019.10:g.58042541G>C, NC_000019.10:g.58042541G>T, NC_000019.9:g.58553909G>A, NC_000019.9:g.58553909G>C, NC_000019.9:g.58553909G>T

Select item 49583915.

rs495839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:58034132 (GRCh38)
19:58545500 (GRCh37)
Canonical SPDI:: NC_000019.10:58034131:T:C,NC_000019.10:58034131:T:G
Gene:: ZSCAN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.119911/860 (ALFA)
T=0.069444/15 (Qatari)
T=0.07/42 (NorthernSweden)
T=0.087442/337 (ALSPAC)
T=0.088457/328 (TWINSUK)
T=0.104734/469 (Estonian)
T=0.105731/27986 (TOPMED)
T=0.147186/68 (SGDP_PRJ)
T=0.175/7 (GENOME_DK)
T=0.194566/974 (1000Genomes)
T=0.238095/10 (Siberian)
C=0.365741/79 (Vietnamese)
C=0.460977/1264 (KOREAN)
C=0.462061/816 (Korea1K)
C=0.465162/7789 (TOMMO)
HGVS:: NC_000019.10:g.58034132T>C, NC_000019.10:g.58034132T>G, NC_000019.9:g.58545500T>C, NC_000019.9:g.58545500T>G, NM_182572.4:c.-181T>C, NM_182572.4:c.-181T>G, NM_182572.3:c.-181T>C, NM_182572.3:c.-181T>G

Select item 62029716.

rs620297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:58034065 (GRCh38)
19:58545433 (GRCh37)
Canonical SPDI:: NC_000019.10:58034064:G:C,NC_000019.10:58034064:G:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.495575/2464 (ALFA)
G=0.268519/58 (Qatari)
G=0.286408/1062 (TWINSUK)
G=0.286667/172 (NorthernSweden)
G=0.287081/120 (SGDP_PRJ)
G=0.294759/1136 (ALSPAC)
C=0.334906/71 (Vietnamese)
G=0.335717/1502 (Estonian)
G=0.340909/15 (Siberian)
G=0.353456/49363 (GnomAD)
G=0.358907/94999 (TOPMED)
G=0.4/16 (GENOME_DK)
G=0.403654/2021 (1000Genomes)
C=0.453054/801 (Korea1K)
C=0.45386/7603 (TOMMO)
C=0.45993/1320 (KOREAN)
HGVS:: NC_000019.10:g.58034065G>C, NC_000019.10:g.58034065G>T, NC_000019.9:g.58545433G>C, NC_000019.9:g.58545433G>T, NM_182572.4:c.-248G>C, NM_182572.4:c.-248G>T

Select item 72366917.

rs723669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58051732 (GRCh38)
19:58563100 (GRCh37)
Canonical SPDI:: NC_000019.10:58051731:G:A
Gene:: ZSCAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.177131/3346 (ALFA)
A=0.000684/2 (KOREAN)
A=0.004673/1 (Vietnamese)
A=0.074953/375 (1000Genomes)
A=0.134259/29 (Qatari)
A=0.135668/35910 (TOPMED)
A=0.144609/20260 (GnomAD)
A=0.207389/769 (TWINSUK)
A=0.210171/810 (ALSPAC)
A=0.221875/994 (Estonian)
A=0.230461/230 (GoNL)
A=0.235/141 (NorthernSweden)
G=0.416667/5 (Siberian)
G=0.457447/43 (SGDP_PRJ)
HGVS:: NC_000019.10:g.58051732G>A, NC_000019.9:g.58563100G>A

Select item 76367418.

rs763674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:58051461 (GRCh38)
19:58562829 (GRCh37)
Canonical SPDI:: NC_000019.10:58051460:A:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.483483/9133 (ALFA)
T=0.244513/713 (KOREAN)
T=0.261954/4385 (TOMMO)
A=0.322785/102 (SGDP_PRJ)
T=0.386165/1934 (1000Genomes)
T=0.390244/128 (HapMap)
A=0.425/17 (Siberian)
A=0.428858/428 (GoNL)
A=0.435132/1677 (ALSPAC)
A=0.437702/1623 (TWINSUK)
A=0.449833/269 (NorthernSweden)
T=0.472222/102 (Qatari)
A=0.483036/2164 (Estonian)
T=0.483963/67206 (GnomAD)
T=0.487495/129035 (TOPMED)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000019.10:g.58051461A>T, NC_000019.9:g.58562829A>T

Select item 88915319.

rs889153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:58039839 (GRCh38)
19:58551207 (GRCh37)
Canonical SPDI:: NC_000019.10:58039838:C:A
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.58039839C>A, NC_000019.9:g.58551207C>A

Select item 91855220.

rs918552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58032194 (GRCh38)
19:58543562 (GRCh37)
Canonical SPDI:: NC_000019.10:58032193:C:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.012221/194 (ALFA)
T=0.015401/2159 (GnomAD)
T=0.01665/4407 (TOPMED)
T=0.019675/99 (1000Genomes)
T=0.029213/26 (HapMap)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.58032194C>T, NC_000019.9:g.58543562C>T

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