NACA - SNP - NCBI

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Select item 29267431.

rs2926743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:56720316 (GRCh38)
12:57114100 (GRCh37)
Canonical SPDI:: NC_000012.12:56720315:A:C,NC_000012.12:56720315:A:G,NC_000012.12:56720315:A:T
Gene:: NACA (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.258567/31813 (ALFA)
T=0./0 (KOREAN)
A=0.092593/5 (Siberian)
A=0.149813/80 (SGDP_PRJ)
A=0.166741/747 (Estonian)
A=0.181876/14314 (PAGE_STUDY)
A=0.183948/921 (1000Genomes)
A=0.195445/369 (HapMap)
A=0.205808/163 (PRJEB37584)
A=0.207496/29049 (GnomAD)
A=0.209264/55390 (TOPMED)
A=0.224594/26994 (ExAC)
A=0.22466/2314 (GoESP)
A=0.227432/56540 (GnomAD_exomes)
A=0.236842/72 (FINRISK)
A=0.243902/150 (Vietnamese)
A=0.275/11 (GENOME_DK)
A=0.276553/276 (GoNL)
A=0.276596/1066 (ALSPAC)
A=0.277778/60 (Qatari)
A=0.277838/509 (Korea1K)
A=0.279666/1037 (TWINSUK)
A=0.293333/176 (NorthernSweden)
A=0.305243/163 (MGP)
A=0.37999/6368 (TOMMO)
HGVS:: NC_000012.12:g.56720316A>C, NC_000012.12:g.56720316A>G, NC_000012.12:g.56720316A>T, NC_000012.11:g.57114100A>C, NC_000012.11:g.57114100A>G, NC_000012.11:g.57114100A>T, NG_030341.1:g.10227T>G, NG_030341.1:g.10227T>C, NG_030341.1:g.10227T>A, NM_001113203.3:c.1214T>G, NM_001113203.3:c.1214T>C, NM_001113203.3:c.1214T>A, NM_001113203.2:c.1214T>G, NM_001113203.2:c.1214T>C, NM_001113203.2:c.1214T>A, NM_001365896.1:c.1214T>G, NM_001365896.1:c.1214T>C, NM_001365896.1:c.1214T>A, NP_001106674.2:p.Phe405Cys, NP_001106674.2:p.Phe405Ser, NP_001106674.2:p.Phe405Tyr, NP_001352825.1:p.Phe405Cys, NP_001352825.1:p.Phe405Ser, NP_001352825.1:p.Phe405Tyr

PubMed

Select item 118344982.

rs11834498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:56720061 (GRCh38)
12:57113845 (GRCh37)
Canonical SPDI:: NC_000012.12:56720060:G:C
Gene:: NACA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00214/236 (ALFA)
C=0.003296/820 (GnomAD_exomes)
C=0.003825/460 (ExAC)
C=0.00463/1 (Qatari)
C=0.012961/65 (1000Genomes)
C=0.014272/147 (GoESP)
C=0.015429/2162 (GnomAD)
C=0.015985/4231 (TOPMED)
C=0.021212/7 (HapMap)
C=0.023621/1859 (PAGE_STUDY)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000012.12:g.56720061G>C, NC_000012.11:g.57113845G>C, NG_030341.1:g.10482C>G, NM_001113203.3:c.1469C>G, NM_001113203.2:c.1469C>G, NM_001365896.1:c.1469C>G, NP_001106674.2:p.Pro490Arg, NP_001352825.1:p.Pro490Arg

Select item 1838280323.

rs183828032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56716216 (GRCh38)
12:57110000 (GRCh37)
Canonical SPDI:: NC_000012.12:56716215:G:A
Gene:: NACA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.005047/249 (ALFA)
A=0.001405/7 (1000Genomes)
A=0.002455/11 (Estonian)
A=0.00255/305 (ExAC)
A=0.002768/688 (GnomAD_exomes)
A=0.003006/3 (GoNL)
A=0.003015/798 (TOPMED)
A=0.003016/423 (GnomAD)
A=0.003883/40 (GoESP)
A=0.003892/15 (ALSPAC)
A=0.005618/3 (MGP)
A=0.005933/22 (TWINSUK)
HGVS:: NC_000012.12:g.56716216G>A, NC_000012.11:g.57110000G>A, NG_030341.1:g.14327C>T, NM_001365896.1:c.5314C>T, NP_001352825.1:p.Pro1772Ser

Select item 2001047994.

rs200104799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56720804 (GRCh38)
12:57114588 (GRCh37)
Canonical SPDI:: NC_000012.12:56720803:A:G
Gene:: NACA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000208/3 (ALFA)
G=0.000178/25 (GnomAD)
G=0.00054/143 (TOPMED)
G=0.000673/81 (ExAC)
G=0.000703/175 (GnomAD_exomes)
G=0.001093/5 (1000Genomes)
G=0.006016/101 (TOMMO)
G=0.006515/4 (Vietnamese)
G=0.010267/30 (KOREAN)
G=0.010371/19 (Korea1K)
HGVS:: NC_000012.12:g.56720804A>G, NC_000012.11:g.57114588A>G, NG_030341.1:g.9739T>C, NM_001113203.3:c.726T>C, NM_001113203.2:c.726T>C, NM_001365896.1:c.726T>C

Select item 610764645.

rs61076464 has merged into rs2926743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:56720316 (GRCh38)
12:57114100 (GRCh37)
Canonical SPDI:: NC_000012.12:56720315:A:C,NC_000012.12:56720315:A:G,NC_000012.12:56720315:A:T
Gene:: NACA (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.258567/31813 (ALFA)
T=0./0 (KOREAN)
A=0.092593/5 (Siberian)
A=0.149813/80 (SGDP_PRJ)
A=0.166741/747 (Estonian)
A=0.181876/14314 (PAGE_STUDY)
A=0.183948/921 (1000Genomes)
A=0.195445/369 (HapMap)
A=0.205808/163 (PRJEB37584)
A=0.207496/29049 (GnomAD)
A=0.209264/55390 (TOPMED)
A=0.224594/26994 (ExAC)
A=0.22466/2314 (GoESP)
A=0.227432/56540 (GnomAD_exomes)
A=0.236842/72 (FINRISK)
A=0.243902/150 (Vietnamese)
A=0.275/11 (GENOME_DK)
A=0.276553/276 (GoNL)
A=0.276596/1066 (ALSPAC)
A=0.277778/60 (Qatari)
A=0.277838/509 (Korea1K)
A=0.279666/1037 (TWINSUK)
A=0.293333/176 (NorthernSweden)
A=0.305243/163 (MGP)
A=0.37999/6368 (TOMMO)
HGVS:: NC_000012.12:g.56720316A>C, NC_000012.12:g.56720316A>G, NC_000012.12:g.56720316A>T, NC_000012.11:g.57114100A>C, NC_000012.11:g.57114100A>G, NC_000012.11:g.57114100A>T, NG_030341.1:g.10227T>G, NG_030341.1:g.10227T>C, NG_030341.1:g.10227T>A, NM_001113203.3:c.1214T>G, NM_001113203.3:c.1214T>C, NM_001113203.3:c.1214T>A, NM_001113203.2:c.1214T>G, NM_001113203.2:c.1214T>C, NM_001113203.2:c.1214T>A, NM_001365896.1:c.1214T>G, NM_001365896.1:c.1214T>C, NM_001365896.1:c.1214T>A, NP_001106674.2:p.Phe405Cys, NP_001106674.2:p.Phe405Ser, NP_001106674.2:p.Phe405Tyr, NP_001352825.1:p.Phe405Cys, NP_001352825.1:p.Phe405Ser, NP_001352825.1:p.Phe405Tyr

Select item 577914616.

rs57791461 has merged into rs2926743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:56720316 (GRCh38)
12:57114100 (GRCh37)
Canonical SPDI:: NC_000012.12:56720315:A:C,NC_000012.12:56720315:A:G,NC_000012.12:56720315:A:T
Gene:: NACA (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.258567/31813 (ALFA)
T=0./0 (KOREAN)
A=0.092593/5 (Siberian)
A=0.149813/80 (SGDP_PRJ)
A=0.166741/747 (Estonian)
A=0.181876/14314 (PAGE_STUDY)
A=0.183948/921 (1000Genomes)
A=0.195445/369 (HapMap)
A=0.205808/163 (PRJEB37584)
A=0.207496/29049 (GnomAD)
A=0.209264/55390 (TOPMED)
A=0.224594/26994 (ExAC)
A=0.22466/2314 (GoESP)
A=0.227432/56540 (GnomAD_exomes)
A=0.236842/72 (FINRISK)
A=0.243902/150 (Vietnamese)
A=0.275/11 (GENOME_DK)
A=0.276553/276 (GoNL)
A=0.276596/1066 (ALSPAC)
A=0.277778/60 (Qatari)
A=0.277838/509 (Korea1K)
A=0.279666/1037 (TWINSUK)
A=0.293333/176 (NorthernSweden)
A=0.305243/163 (MGP)
A=0.37999/6368 (TOMMO)
HGVS:: NC_000012.12:g.56720316A>C, NC_000012.12:g.56720316A>G, NC_000012.12:g.56720316A>T, NC_000012.11:g.57114100A>C, NC_000012.11:g.57114100A>G, NC_000012.11:g.57114100A>T, NG_030341.1:g.10227T>G, NG_030341.1:g.10227T>C, NG_030341.1:g.10227T>A, NM_001113203.3:c.1214T>G, NM_001113203.3:c.1214T>C, NM_001113203.3:c.1214T>A, NM_001113203.2:c.1214T>G, NM_001113203.2:c.1214T>C, NM_001113203.2:c.1214T>A, NM_001365896.1:c.1214T>G, NM_001365896.1:c.1214T>C, NM_001365896.1:c.1214T>A, NP_001106674.2:p.Phe405Cys, NP_001106674.2:p.Phe405Ser, NP_001106674.2:p.Phe405Tyr, NP_001352825.1:p.Phe405Cys, NP_001352825.1:p.Phe405Ser, NP_001352825.1:p.Phe405Tyr

Select item 47887.

rs4788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:56712876 (GRCh38)
12:57106660 (GRCh37)
Canonical SPDI:: NC_000012.12:56712875:A:G,NC_000012.12:56712875:A:T
Gene:: NACA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.259529/12801 (ALFA)
A=0.074074/4 (Siberian)
A=0.157303/84 (SGDP_PRJ)
A=0.159598/715 (Estonian)
A=0.197377/988 (1000Genomes)
A=0.207237/63 (FINRISK)
A=0.221356/31004 (GnomAD)
A=0.225774/59760 (TOPMED)
A=0.226697/27521 (ExAC)
A=0.228622/57482 (GnomAD_exomes)
A=0.236352/3074 (GoESP)
A=0.263889/57 (Vietnamese)
A=0.275/11 (GENOME_DK)
A=0.276553/276 (GoNL)
A=0.276596/1066 (ALSPAC)
A=0.277838/509 (Korea1K)
A=0.278157/815 (KOREAN)
A=0.279666/1037 (TWINSUK)
A=0.282407/61 (Qatari)
A=0.288333/173 (NorthernSweden)
A=0.307116/164 (MGP)
A=0.37968/6363 (TOMMO)
HGVS:: NC_000012.12:g.56712876A>G, NC_000012.12:g.56712876A>T, NC_000012.11:g.57106660A>G, NC_000012.11:g.57106660A>T, NG_030341.1:g.17667T>C, NG_030341.1:g.17667T>A, NM_005594.6:c.543T>C, NM_005594.6:c.543T>A, NM_005594.5:c.543T>C, NM_005594.5:c.543T>A, NM_005594.4:c.543T>C, NM_005594.4:c.543T>A, NM_005594.3:c.543A>T, NM_005594.3:c.543A>C, NM_005594.2:c.543A>T, NM_005594.2:c.543A>C, NM_005594.1:c.543T>C, NM_005594.1:c.543T>A, NM_001113203.3:c.2673T>C, NM_001113203.3:c.2673T>A, NM_001113203.2:c.2673T>C, NM_001113203.2:c.2673T>A, NM_001113201.3:c.543T>C, NM_001113201.3:c.543T>A, NM_001113201.2:c.543T>C, NM_001113201.2:c.543T>A, NM_001113201.1:c.543T>C, NM_001113201.1:c.543T>A, NM_001320194.2:c.543T>C, NM_001320194.2:c.543T>A, NM_001320194.1:c.543T>C, NM_001320194.1:c.543T>A, NM_001320193.2:c.543T>C, NM_001320193.2:c.543T>A, NM_001320193.1:c.543T>C, NM_001320193.1:c.543T>A, NM_001113202.2:c.543T>C, NM_001113202.2:c.543T>A, NM_001113202.1:c.543T>C, NM_001113202.1:c.543T>A, NM_001365896.1:c.6132T>C, NM_001365896.1:c.6132T>A, NR_045277.1:n.866T>C, NR_045277.1:n.866T>A

PubMed

Select item 49018.

rs4901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:56713612 (GRCh38)
12:57107396 (GRCh37)
Canonical SPDI:: NC_000012.12:56713611:G:T
Gene:: NACA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.56713612G>T, NC_000012.11:g.57107396G>T, NG_030341.1:g.16931C>A, NM_005594.6:c.306C>A, NM_005594.5:c.306C>A, NM_005594.4:c.306C>A, NM_005594.3:c.306C>A, NM_005594.2:c.306C>A, NM_005594.1:c.306A>C, NM_001113203.3:c.2436C>A, NM_001113203.2:c.2436C>A, NM_001113201.3:c.306C>A, NM_001113201.2:c.306C>A, NM_001113201.1:c.306C>A, NM_001320194.2:c.306C>A, NM_001320194.1:c.306C>A, NM_001320193.2:c.306C>A, NM_001320193.1:c.306C>A, NM_001113202.2:c.306C>A, NM_001113202.1:c.306C>A, NM_001365896.1:c.5895C>A, NR_045277.1:n.629C>A

Select item 49029.

rs4902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:56714419 (GRCh38)
12:57108203 (GRCh37)
Canonical SPDI:: NC_000012.12:56714418:A:C,NC_000012.12:56714418:A:G,NC_000012.12:56714418:A:T
Gene:: NACA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.375481/28692 (ALFA)
T=0./0 (KOREAN)
A=0.192308/10 (Siberian)
A=0.21097/100 (SGDP_PRJ)
A=0.257366/1153 (Estonian)
A=0.26873/165 (Vietnamese)
A=0.279476/512 (Korea1K)
A=0.299342/91 (FINRISK)
A=0.3/12 (GENOME_DK)
A=0.34011/85454 (GnomAD_exomes)
A=0.346292/42017 (ExAC)
A=0.360841/1338 (TWINSUK)
A=0.371562/1432 (ALSPAC)
A=0.38237/6409 (TOMMO)
A=0.392786/392 (GoNL)
A=0.392879/1968 (1000Genomes)
A=0.395/237 (NorthernSweden)
A=0.398876/213 (MGP)
A=0.423822/59330 (GnomAD)
A=0.428369/113385 (TOPMED)
A=0.4491/5841 (GoESP)
A=0.467593/101 (Qatari)
HGVS:: NC_000012.12:g.56714419A>C, NC_000012.12:g.56714419A>G, NC_000012.12:g.56714419A>T, NC_000012.11:g.57108203A>C, NC_000012.11:g.57108203A>G, NC_000012.11:g.57108203A>T, NG_030341.1:g.16124T>G, NG_030341.1:g.16124T>C, NG_030341.1:g.16124T>A, NM_005594.6:c.177T>G, NM_005594.6:c.177T>C, NM_005594.6:c.177T>A, NM_005594.5:c.177T>G, NM_005594.5:c.177T>C, NM_005594.5:c.177T>A, NM_005594.4:c.177T>G, NM_005594.4:c.177T>C, NM_005594.4:c.177T>A, NM_005594.3:c.177C>T, NM_005594.3:c.177C>G, NM_005594.3:c.177C>A, NM_005594.2:c.177C>T, NM_005594.2:c.177C>G, NM_005594.2:c.177C>A, NM_005594.1:c.177T>G, NM_005594.1:c.177T>C, NM_005594.1:c.177T>A, NM_001113203.3:c.2307T>G, NM_001113203.3:c.2307T>C, NM_001113203.3:c.2307T>A, NM_001113203.2:c.2307T>G, NM_001113203.2:c.2307T>C, NM_001113203.2:c.2307T>A, NM_001113201.3:c.177T>G, NM_001113201.3:c.177T>C, NM_001113201.3:c.177T>A, NM_001113201.2:c.177T>G, NM_001113201.2:c.177T>C, NM_001113201.2:c.177T>A, NM_001113201.1:c.177T>G, NM_001113201.1:c.177T>C, NM_001113201.1:c.177T>A, NM_001320194.2:c.177T>G, NM_001320194.2:c.177T>C, NM_001320194.2:c.177T>A, NM_001320194.1:c.177T>G, NM_001320194.1:c.177T>C, NM_001320194.1:c.177T>A, NM_001320193.2:c.177T>G, NM_001320193.2:c.177T>C, NM_001320193.2:c.177T>A, NM_001320193.1:c.177T>G, NM_001320193.1:c.177T>C, NM_001320193.1:c.177T>A, NM_001113202.2:c.177T>G, NM_001113202.2:c.177T>C, NM_001113202.2:c.177T>A, NM_001113202.1:c.177T>G, NM_001113202.1:c.177T>C, NM_001113202.1:c.177T>A, NM_001365896.1:c.5766T>G, NM_001365896.1:c.5766T>C, NM_001365896.1:c.5766T>A, NR_045277.1:n.500T>G, NR_045277.1:n.500T>C, NR_045277.1:n.500T>A, NP_005585.1:p.Ile59Met, NP_001106674.2:p.Ile769Met, NP_001106672.1:p.Ile59Met, NP_001307123.1:p.Ile59Met, NP_001307122.1:p.Ile59Met, NP_001106673.1:p.Ile59Met, NP_001352825.1:p.Ile1922Met

Select item 89860910.

rs898609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:56713026 (GRCh38)
12:57106810 (GRCh37)
Canonical SPDI:: NC_000012.12:56713025:G:A,NC_000012.12:56713025:G:C
Gene:: NACA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.386702/10079 (ALFA)
G=0.192308/10 (Siberian)
G=0.21097/100 (SGDP_PRJ)
G=0.257366/1153 (Estonian)
G=0.276382/165 (Vietnamese)
G=0.279476/512 (Korea1K)
G=0.284642/834 (KOREAN)
G=0.299342/91 (FINRISK)
G=0.3/12 (GENOME_DK)
G=0.339798/85305 (GnomAD_exomes)
G=0.346049/41966 (ExAC)
G=0.360302/1336 (TWINSUK)
G=0.371303/1431 (ALSPAC)
G=0.38237/6409 (TOMMO)
G=0.392786/392 (GoNL)
G=0.392879/1968 (1000Genomes)
G=0.395/237 (NorthernSweden)
G=0.398876/213 (MGP)
A=0.416667/10 (PRJEB36033)
G=0.423261/59210 (GnomAD)
G=0.428395/113392 (TOPMED)
G=0.449024/5840 (GoESP)
G=0.467593/101 (Qatari)
G=0.490854/161 (HapMap)
HGVS:: NC_000012.12:g.56713026G>A, NC_000012.12:g.56713026G>C, NC_000012.11:g.57106810G>A, NC_000012.11:g.57106810G>C, NG_030341.1:g.17517C>T, NG_030341.1:g.17517C>G

Select item 107860411.

rs1078604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:56713370 (GRCh38)
12:57107154 (GRCh37)
Canonical SPDI:: NC_000012.12:56713369:G:T
Gene:: NACA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.068214/4850 (ALFA)
T=0.000342/1 (KOREAN)
T=0.025/1 (GENOME_DK)
T=0.049904/104 (HGDP_Stanford)
T=0.051374/257 (1000Genomes)
T=0.056904/211 (TWINSUK)
T=0.065/39 (NorthernSweden)
T=0.068287/118 (HapMap)
T=0.069279/267 (ALSPAC)
T=0.073131/19357 (TOPMED)
T=0.073438/329 (Estonian)
T=0.077438/10853 (GnomAD)
T=0.087963/19 (Qatari)
T=0.093186/93 (GoNL)
T=0.1/6 (PRJEB36033)
G=0.456522/21 (SGDP_PRJ)
G=0.5/5 (Siberian)
HGVS:: NC_000012.12:g.56713370G>T, NC_000012.11:g.57107154G>T, NG_030341.1:g.17173C>A

Select item 107860512.

rs1078605 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56713483 (GRCh38)
12:57107267 (GRCh37)
Canonical SPDI:: NC_000012.12:56713482:T:C
Gene:: NACA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.56713483T>C, NC_000012.11:g.57107267T>C, NG_030341.1:g.17060A>G

Select item 146638213.

rs1466382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:56723050 (GRCh38)
12:57116834 (GRCh37)
Canonical SPDI:: NC_000012.12:56723049:G:A,NC_000012.12:56723049:G:T
Gene:: NACA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.353675/24852 (ALFA)
G=0.202869/99 (SGDP_PRJ)
G=0.211538/11 (Siberian)
G=0.264509/1185 (Estonian)
G=0.280022/513 (Korea1K)
G=0.286885/840 (KOREAN)
G=0.28972/62 (Vietnamese)
G=0.3/12 (GENOME_DK)
A=0.307692/8 (PRJEB36033)
G=0.348688/1746 (1000Genomes)
G=0.361111/1339 (TWINSUK)
G=0.372081/1434 (ALSPAC)
G=0.383467/6427 (TOMMO)
G=0.388242/733 (HapMap)
G=0.389561/103113 (TOPMED)
G=0.392786/392 (GoNL)
G=0.4/240 (NorthernSweden)
G=0.449074/97 (Qatari)
HGVS:: NC_000012.12:g.56723050G>A, NC_000012.12:g.56723050G>T, NC_000012.11:g.57116834G>A, NC_000012.11:g.57116834G>T, NG_030341.1:g.7493C>T, NG_030341.1:g.7493C>A

Select item 180230414.

rs1802304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56712517 (GRCh38)
12:57106301 (GRCh37)
Canonical SPDI:: NC_000012.12:56712516:A:G
Gene:: NACA (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000012.12:g.56712517A>G, NC_000012.11:g.57106301A>G, NG_030341.1:g.18026T>C, NM_005594.6:c.*21T>C, NM_005594.5:c.*21T>C, NM_005594.4:c.*21T>C, NM_005594.3:c.*21T>C, NM_005594.2:c.*21T>C, NM_005594.1:c.*21T>C, NM_001113203.3:c.*21T>C, NM_001113203.2:c.*21T>C, NM_001113201.3:c.*21T>C, NM_001113201.2:c.*21T>C, NM_001113201.1:c.*21T>C, NM_001320194.2:c.*242T>C, NM_001320194.1:c.*242T>C, NM_001320193.2:c.*21T>C, NM_001320193.1:c.*21T>C, NM_001113202.2:c.*21T>C, NM_001113202.1:c.*21T>C, NM_001365896.1:c.*21T>C, NR_045277.1:n.992T>C

Select item 229089415.

rs2290894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:56714911 (GRCh38)
12:57108695 (GRCh37)
Canonical SPDI:: NC_000012.12:56714910:C:G
Gene:: NACA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.366755/6928 (ALFA)
C=0.192308/10 (Siberian)
C=0.202869/99 (SGDP_PRJ)
C=0.257143/1152 (Estonian)
C=0.279476/512 (Korea1K)
C=0.283618/831 (KOREAN)
C=0.287736/61 (Vietnamese)
C=0.3/12 (GENOME_DK)
C=0.348844/1747 (1000Genomes)
C=0.360841/1338 (TWINSUK)
C=0.371562/1432 (ALSPAC)
C=0.382334/6408 (TOMMO)
C=0.386081/54032 (GnomAD)
C=0.389259/103033 (TOPMED)
C=0.392786/392 (GoNL)
C=0.395/237 (NorthernSweden)
C=0.426829/140 (HapMap)
C=0.449074/97 (Qatari)
HGVS:: NC_000012.12:g.56714911C>G, NC_000012.11:g.57108695C>G, NG_030341.1:g.15632G>C

Select item 286048216.

rs2860482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:56712154 (GRCh38)
12:57105938 (GRCh37)
Canonical SPDI:: NC_000012.12:56712153:A:C,NC_000012.12:56712153:A:G,NC_000012.12:56712153:A:T
Gene:: NACA (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.227128/4290 (ALFA)
T=0./0 (KOREAN)
A=0.08/4 (Siberian)
A=0.149813/80 (SGDP_PRJ)
A=0.161679/724 (Estonian)
A=0.18426/923 (1000Genomes)
A=0.205284/28599 (GnomAD)
A=0.209403/55427 (TOPMED)
A=0.276553/276 (GoNL)
A=0.276596/1066 (ALSPAC)
A=0.277778/60 (Qatari)
A=0.277838/509 (Korea1K)
A=0.279666/1037 (TWINSUK)
A=0.288333/173 (NorthernSweden)
A=0.380885/6381 (TOMMO)
HGVS:: NC_000012.12:g.56712154A>C, NC_000012.12:g.56712154A>G, NC_000012.12:g.56712154A>T, NC_000012.11:g.57105938A>C, NC_000012.11:g.57105938A>G, NC_000012.11:g.57105938A>T, NG_030341.1:g.18389T>G, NG_030341.1:g.18389T>C, NG_030341.1:g.18389T>A

Select item 292674217.

rs2926742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:56722442 (GRCh38)
12:57116226 (GRCh37)
Canonical SPDI:: NC_000012.12:56722441:C:A,NC_000012.12:56722441:C:T
Gene:: NACA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.001562/8 (1000Genomes)
T=0.001754/246 (GnomAD)
HGVS:: NC_000012.12:g.56722442C>A, NC_000012.12:g.56722442C>T, NC_000012.11:g.57116226C>A, NC_000012.11:g.57116226C>T, NG_030341.1:g.8101G>T, NG_030341.1:g.8101G>A

Select item 292674418.

rs2926744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56718128 (GRCh38)
12:57111912 (GRCh37)
Canonical SPDI:: NC_000012.12:56718127:G:A
Gene:: NACA (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.06668/791 (ALFA)
A=0.00012/6 (GnomAD)
A=0.00025/4 (TOMMO)
A=0.00749/4 (MGP)
A=0.0514/11 (Qatari)
A=0.1863/522 (KOREAN)
HGVS:: NC_000012.12:g.56718128G>A, NC_000012.11:g.57111912G>A, NG_030341.1:g.12415C>T, NM_001365896.1:c.3402C>T

Select item 292674519.

rs2926745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:56718026 (GRCh38)
12:57111810 (GRCh37)
Canonical SPDI:: NC_000012.12:56718025:T:C,NC_000012.12:56718025:T:G
Gene:: NACA (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.084724/1005 (ALFA)
C=0.00002/2 (ExAC)
G=0.000318/7 (TOMMO)
G=0.000421/21 (GnomAD)
G=0.005192/26 (1000Genomes)
G=0.101253/291 (KOREAN)
HGVS:: NC_000012.12:g.56718026T>C, NC_000012.12:g.56718026T>G, NC_000012.11:g.57111810T>C, NC_000012.11:g.57111810T>G, NG_030341.1:g.12517A>G, NG_030341.1:g.12517A>C, NM_001365896.1:c.3504A>G, NM_001365896.1:c.3504A>C

Select item 292674620.

rs2926746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:56717921 (GRCh38)
12:57111705 (GRCh37)
Canonical SPDI:: NC_000012.12:56717920:G:A,NC_000012.12:56717920:G:C
Gene:: NACA (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.56717921G>A, NC_000012.12:g.56717921G>C, NC_000012.11:g.57111705G>A, NC_000012.11:g.57111705G>C, NG_030341.1:g.12622C>T, NG_030341.1:g.12622C>G, NM_001365896.1:c.3609C>T, NM_001365896.1:c.3609C>G

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