ZNF428 - SNP

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Select item 9923907301.

rs992390730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:43607823 (GRCh38)
19:44111975 (GRCh37)
Canonical SPDI:: NC_000019.10:43607822:G:T
Gene:: ZNF428 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000019.10:g.43607823G>T, NC_000019.9:g.44111975G>T, NM_182498.4:c.361C>A, NM_182498.3:c.361C>A, XM_047438168.1:c.361C>A, NP_872304.2:p.Gln121Lys, XP_047294124.1:p.Gln121Lys

Select item 30462.

rs3046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43620583 (GRCh38)
19:44124735 (GRCh37)
Canonical SPDI:: NC_000019.10:43620582:T:C
Gene:: ZNF428 (Varview), LOC105372411 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.482055/98773 (ALFA)
T=0.276549/125 (SGDP_PRJ)
T=0.347826/16 (Siberian)
T=0.365741/79 (Qatari)
T=0.415433/786 (HapMap)
T=0.424735/2127 (1000Genomes)
T=0.425/17 (GENOME_DK)
T=0.446417/118162 (TOPMED)
T=0.448333/269 (NorthernSweden)
T=0.449735/62881 (GnomAD)
T=0.450096/938 (HGDP_Stanford)
C=0.451726/1675 (TWINSUK)
C=0.458929/514 (Daghestan)
C=0.474345/869 (Korea1K)
C=0.475223/2129 (Estonian)
C=0.482356/1859 (ALSPAC)
C=0.482966/482 (GoNL)
C=0.494124/8282 (TOMMO)
T=0.49727/1457 (KOREAN)
HGVS:: NC_000019.10:g.43620583T>C, NC_000019.9:g.44124735T>C

Select item 3047223.

rs304722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:43609394 (GRCh38)
19:44113546 (GRCh37)
Canonical SPDI:: NC_000019.10:43609393:C:A,NC_000019.10:43609393:C:T
Gene:: ZNF428 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.306263/5672 (ALFA)
C=0.174127/319 (Korea1K)
C=0.18519/3104 (TOMMO)
C=0.217054/112 (SGDP_PRJ)
C=0.218089/639 (KOREAN)
C=0.223602/72 (HapMap)
C=0.273891/1372 (1000Genomes)
C=0.27907/73867 (TOPMED)
C=0.283019/60 (Vietnamese)
C=0.291234/40397 (GnomAD)
C=0.295455/13 (Siberian)
C=0.338839/1518 (Estonian)
C=0.347695/347 (GoNL)
C=0.356481/77 (Qatari)
C=0.371667/223 (NorthernSweden)
C=0.5/20 (GENOME_DK)
HGVS:: NC_000019.10:g.43609394C>A, NC_000019.10:g.43609394C>T, NC_000019.9:g.44113546C>A, NC_000019.9:g.44113546C>T

Select item 3650634.

rs365063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:43609862 (GRCh38)
19:44114014 (GRCh37)
Canonical SPDI:: NC_000019.10:43609861:G:A,NC_000019.10:43609861:G:C
Gene:: ZNF428 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.305558/5772 (ALFA)
G=0.174672/320 (Korea1K)
G=0.184231/3088 (TOMMO)
G=0.213178/110 (SGDP_PRJ)
G=0.217406/637 (KOREAN)
G=0.22561/74 (HapMap)
G=0.272017/1362 (1000Genomes)
G=0.275701/59 (Vietnamese)
G=0.277453/73439 (TOPMED)
G=0.282416/318 (Daghestan)
G=0.288441/40365 (GnomAD)
G=0.295455/13 (Siberian)
G=0.317961/1179 (TWINSUK)
G=0.332641/1282 (ALSPAC)
G=0.33817/1515 (Estonian)
G=0.343687/343 (GoNL)
G=0.356481/77 (Qatari)
G=0.371667/223 (NorthernSweden)
G=0.5/20 (GENOME_DK)
HGVS:: NC_000019.10:g.43609862G>A, NC_000019.10:g.43609862G>C, NC_000019.9:g.44114014G>A, NC_000019.9:g.44114014G>C

Select item 3676525.

rs367652 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:43609246 (GRCh38)
19:44113398 (GRCh37)
Canonical SPDI:: NC_000019.10:43609245:A:C
Gene:: ZNF428 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.43609246A>C, NC_000019.9:g.44113398A>C

Select item 3687456.

rs368745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:43620216 (GRCh38)
19:44124368 (GRCh37)
Canonical SPDI:: NC_000019.10:43620215:G:A,NC_000019.10:43620215:G:T
Gene:: ZNF428 (Varview), LOC105372411 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.064083/12436 (ALFA)
T=0./0 (PRJEB36033)
T=0.052319/194 (TWINSUK)
T=0.05371/207 (ALSPAC)
T=0.058116/58 (GoNL)
T=0.060714/272 (Estonian)
T=0.076667/46 (NorthernSweden)
T=0.097222/21 (Qatari)
T=0.155528/779 (1000Genomes)
T=0.158349/330 (HGDP_Stanford)
T=0.165433/313 (HapMap)
T=0.214286/45 (Vietnamese)
T=0.311806/5226 (TOMMO)
T=0.319795/937 (KOREAN)
G=0.432836/58 (SGDP_PRJ)
G=0.5/4 (Siberian)
HGVS:: NC_000019.10:g.43620216G>A, NC_000019.10:g.43620216G>T, NC_000019.9:g.44124368G>A, NC_000019.9:g.44124368G>T

Select item 7588717.

rs758871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43607602 (GRCh38)
19:44111754 (GRCh37)
Canonical SPDI:: NC_000019.10:43607601:G:A
Gene:: ZNF428 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002229/77 (ALFA)
A=0.000446/2 (Estonian)
A=0.001518/310 (GnomAD_exomes)
A=0.001844/202 (ExAC)
A=0.005228/68 (GoESP)
A=0.005811/1538 (TOPMED)
A=0.006292/807 (GnomAD)
A=0.006402/32 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.43607602G>A, NC_000019.9:g.44111754G>A, NM_182498.4:c.*15C>T, NM_182498.3:c.*15C>T, XM_047438168.1:c.*15C>T

Select item 8801088.

rs880108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:43610988 (GRCh38)
19:44115140 (GRCh37)
Canonical SPDI:: NC_000019.10:43610987:C:A,NC_000019.10:43610987:C:T
Gene:: ZNF428 (Varview), SRRM5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.14389/6048 (ALFA)
A=0.075/3 (GENOME_DK)
A=0.095596/178 (HapMap)
A=0.106481/23 (Qatari)
A=0.119335/16721 (GnomAD)
A=0.125048/33099 (TOPMED)
A=0.127341/68 (MGP)
A=0.130543/654 (1000Genomes)
A=0.142934/530 (TWINSUK)
A=0.146293/146 (GoNL)
A=0.152523/683 (Estonian)
A=0.153607/592 (ALSPAC)
A=0.173333/104 (NorthernSweden)
A=0.230874/676 (KOREAN)
A=0.237991/436 (Korea1K)
A=0.257009/55 (Vietnamese)
A=0.263147/4410 (TOMMO)
A=0.28754/180 (Chileans)
C=0.4/4 (Siberian)
C=0.424731/79 (SGDP_PRJ)
HGVS:: NC_000019.10:g.43610988C>A, NC_000019.10:g.43610988C>T, NC_000019.9:g.44115140C>A, NC_000019.9:g.44115140C>T

Select item 10081489.

rs1008148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43611806 (GRCh38)
19:44115958 (GRCh37)
Canonical SPDI:: NC_000019.10:43611805:C:T
Gene:: ZNF428 (Varview), SRRM5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.491689/10413 (ALFA)
C=0.282222/127 (SGDP_PRJ)
C=0.347826/16 (Siberian)
C=0.365741/79 (Qatari)
C=0.4/16 (GENOME_DK)
C=0.426921/2138 (1000Genomes)
C=0.446667/268 (NorthernSweden)
C=0.449428/118959 (TOPMED)
T=0.451726/1675 (TWINSUK)
C=0.452531/63367 (GnomAD)
C=0.462617/99 (Vietnamese)
T=0.47107/863 (Korea1K)
T=0.474777/2127 (Estonian)
T=0.482356/1859 (ALSPAC)
T=0.482966/482 (GoNL)
T=0.495435/8302 (TOMMO)
C=0.498292/1459 (KOREAN)
HGVS:: NC_000019.10:g.43611806C>T, NC_000019.9:g.44115958C>T

Select item 126329510.

rs1263295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:43618087 (GRCh38)
19:44122239 (GRCh37)
Canonical SPDI:: NC_000019.10:43618086:T:C,NC_000019.10:43618086:T:G
Gene:: ZNF428 (Varview), LOC105372411 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00051/6 (ALFA)
G=0.00164/3 (Korea1K)
C=0.02226/65 (KOREAN)
HGVS:: NC_000019.10:g.43618087T>C, NC_000019.10:g.43618087T>G, NC_000019.9:g.44122239T>C, NC_000019.9:g.44122239T>G

Select item 126836611.

rs1268366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:43618127 (GRCh38)
19:44122279 (GRCh37)
Canonical SPDI:: NC_000019.10:43618126:T:C,NC_000019.10:43618126:T:G
Gene:: ZNF428 (Varview), LOC105372411 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.43618127T>C, NC_000019.10:g.43618127T>G, NC_000019.9:g.44122279T>C, NC_000019.9:g.44122279T>G

Select item 186014912.

rs1860149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:43614528 (GRCh38)
19:44118680 (GRCh37)
Canonical SPDI:: NC_000019.10:43614527:A:G
Gene:: ZNF428 (Varview), SRRM5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.466476/117828 (ALFA)
A=0.288372/124 (SGDP_PRJ)
A=0.347826/16 (Siberian)
A=0.425/17 (GENOME_DK)
A=0.444413/34946 (PAGE_STUDY)
G=0.448232/355 (PRJEB37584)
G=0.449299/1666 (TWINSUK)
A=0.455882/93 (Vietnamese)
A=0.458333/275 (NorthernSweden)
A=0.462963/100 (Qatari)
G=0.466292/249 (MGP)
A=0.46955/2352 (1000Genomes)
G=0.473253/867 (Korea1K)
G=0.473948/473 (GoNL)
G=0.475/2128 (Estonian)
A=0.476621/897 (HapMap)
G=0.477426/1840 (ALSPAC)
A=0.481555/67358 (GnomAD)
A=0.481813/127531 (TOPMED)
G=0.495718/8307 (TOMMO)
A=0.498635/1461 (KOREAN)
HGVS:: NC_000019.10:g.43614528A>G, NC_000019.9:g.44118680A>G

Select item 198539613.

rs1985396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:43610180 (GRCh38)
19:44114332 (GRCh37)
Canonical SPDI:: NC_000019.10:43610179:C:G,NC_000019.10:43610179:C:T
Gene:: ZNF428 (Varview), SRRM5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.341559/3585 (ALFA)
C=0.336111/121 (SGDP_PRJ)
G=0.37037/80 (Qatari)
C=0.380952/16 (Siberian)
G=0.421296/91 (Vietnamese)
G=0.425/17 (GENOME_DK)
G=0.439101/2812 (1000Genomes)
C=0.443231/812 (Korea1K)
G=0.445/267 (NorthernSweden)
G=0.449201/118899 (TOPMED)
C=0.461704/1712 (TWINSUK)
C=0.473176/7930 (TOMMO)
C=0.475427/1393 (KOREAN)
C=0.487723/2185 (Estonian)
C=0.489362/1886 (ALSPAC)
C=0.493988/493 (GoNL)
HGVS:: NC_000019.10:g.43610180C>G, NC_000019.10:g.43610180C>T, NC_000019.9:g.44114332C>G, NC_000019.9:g.44114332C>T

Select item 200309814.

rs2003098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:43610307 (GRCh38)
19:44114459 (GRCh37)
Canonical SPDI:: NC_000019.10:43610306:C:A,NC_000019.10:43610306:C:G,NC_000019.10:43610306:C:T
Gene:: ZNF428 (Varview), SRRM5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.03765/434 (ALFA)
T=0.075/3 (GENOME_DK)
T=0.13099/656 (1000Genomes)
T=0.14239/528 (TWINSUK)
T=0.14629/146 (GoNL)
T=0.1523/682 (Estonian)
T=0.15335/591 (ALSPAC)
T=0.17333/104 (NorthernSweden)
T=0.20273/594 (KOREAN)
T=0.21015/385 (Korea1K)
T=0.23607/3957 (TOMMO)
T=0.25234/54 (Vietnamese)
C=0.4/4 (Siberian)
C=0.42222/76 (SGDP_PRJ)
HGVS:: NC_000019.10:g.43610307C>A, NC_000019.10:g.43610307C>G, NC_000019.10:g.43610307C>T, NC_000019.9:g.44114459C>A, NC_000019.9:g.44114459C>G, NC_000019.9:g.44114459C>T

Select item 200585215.

rs2005852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:43607411 (GRCh38)
19:44111563 (GRCh37)
Canonical SPDI:: NC_000019.10:43607410:G:A,NC_000019.10:43607410:G:C
Gene:: ZNF428 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00599/30 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.43607411G>A, NC_000019.10:g.43607411G>C, NC_000019.9:g.44111563G>A, NC_000019.9:g.44111563G>C, NM_182498.4:c.*206C>T, NM_182498.4:c.*206C>G, NM_182498.3:c.*206C>T, NM_182498.3:c.*206C>G, XM_047438168.1:c.*206C>T, XM_047438168.1:c.*206C>G

Select item 230242116.

rs2302421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43614201 (GRCh38)
19:44118353 (GRCh37)
Canonical SPDI:: NC_000019.10:43614200:G:A
Gene:: ZNF428 (Varview), SRRM5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.149711/31681 (ALFA)
A=0.075/3 (GENOME_DK)
A=0.12037/26 (Qatari)
A=0.125468/67 (MGP)
A=0.139006/263 (HapMap)
A=0.143474/532 (TWINSUK)
A=0.147295/147 (GoNL)
A=0.147624/1920 (GoESP)
A=0.149895/20997 (GnomAD)
A=0.152009/681 (Estonian)
A=0.152855/18519 (ExAC)
A=0.154126/594 (ALSPAC)
A=0.156458/41413 (TOPMED)
A=0.158354/39653 (GnomAD_exomes)
A=0.15894/48 (FINRISK)
A=0.165678/830 (1000Genomes)
A=0.172436/13570 (PAGE_STUDY)
A=0.173333/104 (NorthernSweden)
A=0.215909/171 (PRJEB37584)
A=0.230034/674 (KOREAN)
A=0.239629/439 (Korea1K)
A=0.259042/4342 (TOMMO)
A=0.271104/167 (Vietnamese)
G=0.4/4 (Siberian)
G=0.43/86 (SGDP_PRJ)
HGVS:: NC_000019.10:g.43614201G>A, NC_000019.9:g.44118353G>A, NM_001145641.2:c.2080G>A, NM_001145641.1:c.2080G>A, NP_001139113.1:p.Asp694Asn

Select item 305282117.

rs3052821 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA [Show Flanks]
Chromosome:: 19:43607382 (GRCh38)
19:44111534 (GRCh37)
Canonical SPDI:: NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACA,NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACACA,NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACACACA,NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACACACACA,NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACACACACACA,NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACACACACACACA,NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000019.10:43607372:ACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA
Gene:: ZNF428 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43607374CA[4], NC_000019.10:g.43607374CA[5], NC_000019.10:g.43607374CA[6], NC_000019.10:g.43607374CA[7], NC_000019.10:g.43607374CA[8], NC_000019.10:g.43607374CA[9], NC_000019.10:g.43607374CA[10], NC_000019.10:g.43607374CA[12], NC_000019.10:g.43607374CA[13], NC_000019.10:g.43607374CA[14], NC_000019.10:g.43607374CA[15], NC_000019.10:g.43607374CA[16], NC_000019.9:g.44111526CA[4], NC_000019.9:g.44111526CA[5], NC_000019.9:g.44111526CA[6], NC_000019.9:g.44111526CA[7], NC_000019.9:g.44111526CA[8], NC_000019.9:g.44111526CA[9], NC_000019.9:g.44111526CA[10], NC_000019.9:g.44111526CA[12], NC_000019.9:g.44111526CA[13], NC_000019.9:g.44111526CA[14], NC_000019.9:g.44111526CA[15], NC_000019.9:g.44111526CA[16], NM_182498.4:c.*223GT[4], NM_182498.4:c.*223GT[5], NM_182498.4:c.*223GT[6], NM_182498.4:c.*223GT[7], NM_182498.4:c.*223GT[8], NM_182498.4:c.*223GT[9], NM_182498.4:c.*223GT[10], NM_182498.4:c.*223GT[12], NM_182498.4:c.*223GT[13], NM_182498.4:c.*223GT[14], NM_182498.4:c.*223GT[15], NM_182498.4:c.*223GT[16], NM_182498.3:c.*223GT[4], NM_182498.3:c.*223GT[5], NM_182498.3:c.*223GT[6], NM_182498.3:c.*223GT[7], NM_182498.3:c.*223GT[8], NM_182498.3:c.*223GT[9], NM_182498.3:c.*223GT[10], NM_182498.3:c.*223GT[12], NM_182498.3:c.*223GT[13], NM_182498.3:c.*223GT[14], NM_182498.3:c.*223GT[15], NM_182498.3:c.*223GT[16], XM_047438168.1:c.*223GT[4], XM_047438168.1:c.*223GT[5], XM_047438168.1:c.*223GT[6], XM_047438168.1:c.*223GT[7], XM_047438168.1:c.*223GT[8], XM_047438168.1:c.*223GT[9], XM_047438168.1:c.*223GT[10], XM_047438168.1:c.*223GT[12], XM_047438168.1:c.*223GT[13], XM_047438168.1:c.*223GT[14], XM_047438168.1:c.*223GT[15], XM_047438168.1:c.*223GT[16]

Select item 318096718.

rs3180967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43620403 (GRCh38)
19:44124555 (GRCh37)
Canonical SPDI:: NC_000019.10:43620402:G:A
Gene:: ZNF428 (Varview), LOC105372411 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.43620403G>A, NC_000019.9:g.44124555G>A

Select item 374600219.

rs3746002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43619742 (GRCh38)
19:44123894 (GRCh37)
Canonical SPDI:: NC_000019.10:43619741:G:A
Gene:: ZNF428 (Varview), LOC105372411 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.158206/21100 (ALFA)
A=0.075/3 (GENOME_DK)
A=0.138889/30 (Qatari)
A=0.142665/529 (TWINSUK)
A=0.152232/682 (Estonian)
A=0.153607/592 (ALSPAC)
A=0.173333/104 (NorthernSweden)
A=0.180998/341 (HapMap)
A=0.185398/25988 (GnomAD)
A=0.192633/50988 (TOPMED)
A=0.201124/1007 (1000Genomes)
A=0.230349/674 (KOREAN)
A=0.258724/4336 (TOMMO)
A=0.263889/57 (Vietnamese)
G=0.4/4 (Siberian)
G=0.419643/94 (SGDP_PRJ)
HGVS:: NC_000019.10:g.43619742G>A, NC_000019.9:g.44123894G>A, NM_182498.3:c.-315C>T

Select item 381542220.

rs3815422 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:43614036 (GRCh38)
19:44118188 (GRCh37)
Canonical SPDI:: NC_000019.10:43614035:A:C,NC_000019.10:43614035:A:T
Gene:: ZNF428 (Varview), SRRM5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.145381/29512 (ALFA)
C=0.075/3 (GENOME_DK)
C=0.105263/4 (PRJEB36033)
C=0.125468/67 (MGP)
C=0.134259/29 (Qatari)
C=0.142533/2955 (ExAC)
C=0.143204/531 (TWINSUK)
C=0.149299/149 (GoNL)
C=0.153347/591 (ALSPAC)
C=0.165053/25810 (GnomAD_exomes)
C=0.167762/766 (GoESP)
C=0.173333/104 (NorthernSweden)
C=0.176073/24665 (GnomAD)
C=0.183498/48570 (TOPMED)
C=0.190194/952 (1000Genomes)
C=0.211782/16666 (PAGE_STUDY)
C=0.215909/171 (PRJEB37584)
C=0.229693/673 (KOREAN)
C=0.239629/439 (Korea1K)
C=0.24537/53 (Vietnamese)
C=0.259077/4342 (TOMMO)
A=0.4/4 (Siberian)
A=0.421296/91 (SGDP_PRJ)
HGVS:: NC_000019.10:g.43614036A>C, NC_000019.10:g.43614036A>T, NC_000019.9:g.44118188A>C, NC_000019.9:g.44118188A>T, NM_001145641.2:c.1915A>C, NM_001145641.2:c.1915A>T, NM_001145641.1:c.1915A>C, NM_001145641.1:c.1915A>T, NP_001139113.1:p.Ser639Arg, NP_001139113.1:p.Ser639Cys

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