NBEAP1 - SNP

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Select item 15892061.

rs1589206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:20734257 (GRCh38)
15:20939586 (GRCh37)
Canonical SPDI:: NC_000015.10:20734256:C:T
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.30514/4983 (ALFA)
C=0.28986/160 (SGDP_PRJ)
C=0.2963/64 (Qatari)
C=0.30278/1939 (1000Genomes)
C=0.42389/1242 (KOREAN)
C=0.43231/792 (Korea1K)
C=0.45127/7561 (TOMMO)
C=0.5/3 (Siberian)
HGVS:: NC_000015.10:g.20734257C>T, NC_000015.9:g.20939586C>T, NW_021160017.1:g.976026T>C

Select item 18081002.

rs1808100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:20673525 (GRCh38)
15:20878854 (GRCh37)
Canonical SPDI:: NC_000015.10:20673524:C:G
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.14617/2386 (ALFA)
G=0.24519/4045 (TOMMO)
G=0.29031/839 (KOREAN)
C=0.36667/11 (SGDP_PRJ)
HGVS:: NC_000015.10:g.20673525C>G, NC_000015.9:g.20878854C>G, NW_021160017.1:g.915293G>C

Select item 18081013.

rs1808101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 15:20673573 (GRCh38)
15:20878902 (GRCh37)
Canonical SPDI:: NC_000015.10:20673572:T:A,NC_000015.10:20673572:T:G
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.01724/1 (SGDP_PRJ)
A=0.23951/3720 (TOMMO)
HGVS:: NC_000015.10:g.20673573T>A, NC_000015.10:g.20673573T>G, NC_000015.9:g.20878902T>A, NC_000015.9:g.20878902T>G, NW_021160017.1:g.915341A>T, NW_021160017.1:g.915341A>G

Select item 18186834.

rs1818683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:20675425 (GRCh38)
15:20880754 (GRCh37)
Canonical SPDI:: NC_000015.10:20675424:T:C
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.38609/6301 (ALFA)
C=0.33178/71 (Qatari)
C=0.37711/2415 (1000Genomes)
T=0.42929/170 (SGDP_PRJ)
C=0.48658/1414 (KOREAN)
T=0.48949/8120 (TOMMO)
HGVS:: NC_000015.10:g.20675425T>C, NC_000015.9:g.20880754T>C, NW_021160017.1:g.917192T>C

Select item 18186845.

rs1818684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:20675246 (GRCh38)
15:20880575 (GRCh37)
Canonical SPDI:: NC_000015.10:20675245:G:A
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.20675246G>A, NC_000015.9:g.20880575G>A, NW_021160017.1:g.917013A>G

Select item 18294376.

rs1829437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:20689273 (GRCh38)
15:20894602 (GRCh37)
Canonical SPDI:: NC_000015.10:20689272:T:G
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.29135/3456 (ALFA)
T=0.12705/31 (SGDP_PRJ)
T=0.19048/32 (Qatari)
G=0.29075/2358 (TOMMO)
T=0.32143/9 (GENOME_DK)
G=0.42161/2700 (1000Genomes)
G=0.4641/181 (GnomAD)
T=0.49766/1065 (KOREAN)
HGVS:: NC_000015.10:g.20689273T>G, NC_000015.9:g.20894602T>G, NW_021160017.1:g.931076T>G

Select item 18294477.

rs1829447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:20679005 (GRCh38)
15:20884334 (GRCh37)
Canonical SPDI:: NC_000015.10:20679004:A:T
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.017759/290 (ALFA)
T=0.00901/1189 (GnomAD)
T=0.017729/297 (TOMMO)
T=0.021705/139 (1000Genomes)
T=0.032633/59 (Korea1K)
T=0.035298/103 (KOREAN)
A=0.333333/2 (SGDP_PRJ)
HGVS:: NC_000015.10:g.20679005A>T, NC_000015.9:g.20884334A>T, NW_021160017.1:g.920813A>T

Select item 18294498.

rs1829449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:20673240 (GRCh38)
15:20878569 (GRCh37)
Canonical SPDI:: NC_000015.10:20673239:A:C,NC_000015.10:20673239:A:G
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.19666/1849 (ALFA)
C=0.000022/3 (GnomAD)
G=0.009259/2 (Qatari)
G=0.064297/322 (1000Genomes)
G=0.430527/1258 (KOREAN)
G=0.450527/7551 (TOMMO)
A=0.5/203 (SGDP_PRJ)
HGVS:: NC_000015.10:g.20673240A>C, NC_000015.10:g.20673240A>G, NC_000015.9:g.20878569A>C, NC_000015.9:g.20878569A>G, NW_021160017.1:g.915008G>A, NW_021160017.1:g.915008G>C

Select item 18507829.

rs1850782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:20687086 (GRCh38)
15:20892415 (GRCh37)
Canonical SPDI:: NC_000015.10:20687085:T:C
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.05918/702 (ALFA)
C=0.00301/5 (Korea1K)
C=0.00401/4 (GoNL)
C=0.00702/107 (TOMMO)
C=0.02318/63 (KOREAN)
C=0.08571/18 (Qatari)
T=0.17857/5 (SGDP_PRJ)
HGVS:: NC_000015.10:g.20687086T>C, NC_000015.9:g.20892415T>C, NW_021160017.1:g.928895C>T

Select item 185078310.

rs1850783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:20686879 (GRCh38)
15:20892208 (GRCh37)
Canonical SPDI:: NC_000015.10:20686878:T:C,NC_000015.10:20686878:T:G
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000032/4 (GnomAD)
C=0.000154/2 (TOMMO)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000015.10:g.20686879T>C, NC_000015.10:g.20686879T>G, NC_000015.9:g.20892208T>C, NC_000015.9:g.20892208T>G, NW_021160017.1:g.928688C>T, NW_021160017.1:g.928688C>G

Select item 185078411.

rs1850784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 15:20686846 (GRCh38)
15:20892175 (GRCh37)
Canonical SPDI:: NC_000015.10:20686845:A:C,NC_000015.10:20686845:A:G,NC_000015.10:20686845:A:T
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.098/271 (KOREAN)
G=0.1635/34 (Qatari)
A=0.3649/27 (SGDP_PRJ)
HGVS:: NC_000015.10:g.20686846A>C, NC_000015.10:g.20686846A>G, NC_000015.10:g.20686846A>T, NC_000015.9:g.20892175A>C, NC_000015.9:g.20892175A>G, NC_000015.9:g.20892175A>T, NW_021160017.1:g.928655G>A, NW_021160017.1:g.928655G>C, NW_021160017.1:g.928655G>T

Select item 185078512.

rs1850785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:20686806 (GRCh38)
15:20892135 (GRCh37)
Canonical SPDI:: NC_000015.10:20686805:C:A,NC_000015.10:20686805:C:G
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.285244/4418 (TOMMO)
A=0.286614/34568 (GnomAD)
A=0.288257/1846 (1000Genomes)
A=0.30611/521 (Korea1K)
A=0.306452/855 (KOREAN)
A=0.327465/186 (NorthernSweden)
A=0.346154/72 (Qatari)
C=0.397163/112 (SGDP_PRJ)
HGVS:: NC_000015.10:g.20686806C>A, NC_000015.10:g.20686806C>G, NC_000015.9:g.20892135C>A, NC_000015.9:g.20892135C>G, NW_021160017.1:g.928615C>A, NW_021160017.1:g.928615C>G

Select item 191491013.

rs1914910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:20677357 (GRCh38)
15:20882686 (GRCh37)
Canonical SPDI:: NC_000015.10:20677356:G:C
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.03541/420 (ALFA)
C=0.0048/80 (TOMMO)
C=0.03424/98 (KOREAN)
G=0.5/4 (SGDP_PRJ)
HGVS:: NC_000015.10:g.20677357G>C, NC_000015.9:g.20882686G>C, NW_021160017.1:g.919167G>C

Select item 194949114.

rs1949491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:20674604 (GRCh38)
15:20879933 (GRCh37)
Canonical SPDI:: NC_000015.10:20674603:T:C
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.10647/1263 (ALFA)
C=0.06338/9 (Korea1K)
C=0.19568/299 (KOREAN)
C=0.24382/2182 (TOMMO)
HGVS:: NC_000015.10:g.20674604T>C, NC_000015.9:g.20879933T>C, NW_021160017.1:g.916371T>C

Select item 194949215.

rs1949492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:20674377 (GRCh38)
15:20879706 (GRCh37)
Canonical SPDI:: NC_000015.10:20674376:T:C
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.31243/3706 (ALFA)
C=0.12524/1725 (GnomAD)
C=0.23563/41 (Qatari)
C=0.25656/1643 (1000Genomes)
C=0.26706/3975 (TOMMO)
T=0.30189/32 (SGDP_PRJ)
C=0.34764/915 (KOREAN)
T=0.4/8 (GENOME_DK)
HGVS:: NC_000015.10:g.20674377T>C, NC_000015.9:g.20879706T>C, NW_021160017.1:g.916144T>C

Select item 194949316.

rs1949493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:20674309 (GRCh38)
15:20879638 (GRCh37)
Canonical SPDI:: NC_000015.10:20674308:C:T
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.35513/4344 (ALFA)
T=0.03922/12 (HapMap)
T=0.22905/4231 (GnomAD)
C=0.25/5 (GENOME_DK)
T=0.32261/2066 (1000Genomes)
C=0.36905/93 (SGDP_PRJ)
T=0.38931/5986 (TOMMO)
T=0.42749/1185 (KOREAN)
HGVS:: NC_000015.10:g.20674309C>T, NC_000015.9:g.20879638C>T, NW_021160017.1:g.916076C>T

Select item 196139917.

rs1961399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:20684036 (GRCh38)
15:20889365 (GRCh37)
Canonical SPDI:: NC_000015.10:20684035:G:A
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.29582/3509 (ALFA)
G=0.25269/47 (SGDP_PRJ)
A=0.39232/1104 (KOREAN)
A=0.44644/7239 (TOMMO)
HGVS:: NC_000015.10:g.20684036G>A, NC_000015.9:g.20889365G>A, NW_021160017.1:g.925842A>G

Select item 196140018.

rs1961400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:20684262 (GRCh38)
15:20889591 (GRCh37)
Canonical SPDI:: NC_000015.10:20684261:A:T
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.42059/6811 (ALFA)
T=0.28697/524 (Korea1K)
T=0.30723/5120 (TOMMO)
A=0.32119/97 (SGDP_PRJ)
T=0.32472/943 (KOREAN)
T=0.42268/246 (NorthernSweden)
T=0.42308/77 (Qatari)
T=0.42573/42389 (GnomAD)
T=0.49313/3158 (1000Genomes)
A=0.5/18 (GENOME_DK)
A=0.5/2 (Siberian)
HGVS:: NC_000015.10:g.20684262A>T, NC_000015.9:g.20889591A>T, NW_021160017.1:g.926068A>T

Select item 196140119.

rs1961401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:20683973 (GRCh38)
15:20889302 (GRCh37)
Canonical SPDI:: NC_000015.10:20683972:A:G
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000015.10:g.20683973A>G, NC_000015.9:g.20889302A>G, NW_021160017.1:g.925779G>A

Select item 197679920.

rs1976799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:20687683 (GRCh38)
15:20893012 (GRCh37)
Canonical SPDI:: NC_000015.10:20687682:C:T
Gene:: NBEAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00177/21 (ALFA)
T=0.00008/2 (TOMMO)
T=0.00164/76 (GnomAD)
HGVS:: NC_000015.10:g.20687683C>T, NC_000015.9:g.20893012C>T, NW_021160017.1:g.929490T>C