SLC38A9 - SNP

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Select item 1871547861.

rs187154786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:55645869 (GRCh38)
5:54941697 (GRCh37)
Canonical SPDI:: NC_000005.10:55645868:T:A
Gene:: SLC38A9 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000729/77 (ALFA)
A=0./0 (TWINSUK)
A=0.000257/36 (GnomAD)
A=0.000446/2 (Estonian)
A=0.000476/126 (TOPMED)
A=0.000519/2 (ALSPAC)
A=0.000781/4 (1000Genomes)
A=0.001075/266 (GnomAD_exomes)
A=0.001245/98 (PAGE_STUDY)
A=0.001403/169 (ExAC)
A=0.00463/1 (Qatari)
A=0.005/3 (NorthernSweden)
A=0.011643/195 (TOMMO)
A=0.016414/13 (PRJEB37584)
A=0.02293/67 (KOREAN)
A=0.024017/44 (Korea1K)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.55645869T>A, NC_000005.9:g.54941697T>A, XM_006714539.4:c.1087A>T, XM_006714539.3:c.1087A>T, XM_006714539.2:c.1087A>T, XM_006714539.1:c.1087A>T, NM_173514.4:c.1087A>T, NM_173514.3:c.1087A>T, XM_017009078.3:c.916A>T, XM_017009078.2:c.916A>T, XM_017009078.1:c.916A>T, XM_011543174.2:c.1087A>T, XM_011543174.1:c.1087A>T, XM_011543176.2:c.1087A>T, XM_011543176.1:c.1087A>T, XM_011543177.2:c.979A>T, XM_011543177.1:c.979A>T, XM_011543178.2:c.916A>T, XM_011543178.1:c.916A>T, XM_011543180.2:c.784A>T, XM_011543180.1:c.784A>T, XM_017009080.2:c.892A>T, XM_017009080.1:c.892A>T, XM_017009077.2:c.1087A>T, XM_017009077.1:c.1087A>T, XM_011543183.2:c.721A>T, XM_011543183.1:c.721A>T, XM_024454369.2:c.979A>T, XM_024454369.1:c.979A>T, XM_017009081.2:c.892A>T, XM_017009081.1:c.892A>T, XM_017009082.2:c.784A>T, XM_017009082.1:c.784A>T, XM_047416778.1:c.1087A>T, NM_001349382.1:c.1087A>T, NM_001349383.1:c.1087A>T, XM_047416780.1:c.1087A>T, XM_047416781.1:c.979A>T, NM_001258286.1:c.898A>T, NM_001258287.1:c.898A>T, NR_047649.1:n.1438A>T, NM_001349384.1:c.1087A>T, XM_047416784.1:c.916A>T, XM_047416787.1:c.892A>T, XM_047416788.1:c.892A>T, XM_047416783.1:c.979A>T, XM_047416779.1:c.1087A>T, XM_047416790.1:c.916A>T, XM_047416782.1:c.979A>T, XM_047416792.1:c.808A>T, XM_047416786.1:c.916A>T, XM_047416793.1:c.892A>T, XM_047416795.1:c.784A>T, NR_146165.1:n.1288A>T, XM_047416785.1:c.916A>T, NR_047650.1:n.1155A>T, NM_001282429.1:c.715A>T, XM_047416791.1:c.916A>T, XM_047416794.1:c.784A>T, NM_001349385.1:c.892A>T, XM_047416797.1:c.721A>T, XM_047416789.1:c.916A>T, XM_047416796.1:c.721A>T, XM_047416799.1:c.613A>T, XR_007058582.1:n.1288A>T, XM_047416798.1:c.1087A>T, XR_007058583.1:n.1288A>T, XP_006714602.1:p.Thr363Ser, NP_775785.2:p.Thr363Ser, XP_016864567.1:p.Thr306Ser, XP_011541476.1:p.Thr363Ser, XP_011541478.1:p.Thr363Ser, XP_011541479.1:p.Thr327Ser, XP_011541480.1:p.Thr306Ser, XP_011541482.1:p.Thr262Ser, XP_016864569.1:p.Thr298Ser, XP_016864566.1:p.Thr363Ser, XP_011541485.1:p.Thr241Ser, XP_024310137.1:p.Thr327Ser, XP_016864570.1:p.Thr298Ser, XP_016864571.1:p.Thr262Ser, XP_047272734.1:p.Thr363Ser, NP_001336311.1:p.Thr363Ser, NP_001336312.1:p.Thr363Ser, XP_047272736.1:p.Thr363Ser, XP_047272737.1:p.Thr327Ser, NP_001245215.1:p.Thr300Ser, NP_001245216.1:p.Thr300Ser, NP_001336313.1:p.Thr363Ser, XP_047272740.1:p.Thr306Ser, XP_047272743.1:p.Thr298Ser, XP_047272744.1:p.Thr298Ser, XP_047272739.1:p.Thr327Ser, XP_047272735.1:p.Thr363Ser, XP_047272746.1:p.Thr306Ser, XP_047272738.1:p.Thr327Ser, XP_047272748.1:p.Thr270Ser, XP_047272742.1:p.Thr306Ser, XP_047272749.1:p.Thr298Ser, XP_047272751.1:p.Thr262Ser, XP_047272741.1:p.Thr306Ser, NP_001269358.1:p.Thr239Ser, XP_047272747.1:p.Thr306Ser, XP_047272750.1:p.Thr262Ser, NP_001336314.1:p.Thr298Ser, XP_047272753.1:p.Thr241Ser, XP_047272745.1:p.Thr306Ser, XP_047272752.1:p.Thr241Ser, XP_047272755.1:p.Thr205Ser, XP_047272754.1:p.Thr363Ser

Select item 9336722.

rs933672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:55650062 (GRCh38)
5:54945890 (GRCh37)
Canonical SPDI:: NC_000005.10:55650061:G:A,NC_000005.10:55650061:G:C
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.387153/14598 (ALFA)
G=0.276744/119 (SGDP_PRJ)
G=0.289732/1298 (Estonian)
G=0.3/12 (GENOME_DK)
G=0.308333/185 (NorthernSweden)
G=0.318182/14 (Siberian)
G=0.329018/1220 (TWINSUK)
G=0.333679/1286 (ALSPAC)
G=0.353707/353 (GoNL)
A=0.38785/83 (Vietnamese)
G=0.421296/91 (Qatari)
G=0.423616/112127 (TOPMED)
G=0.444722/2227 (1000Genomes)
A=0.462336/847 (Korea1K)
A=0.479181/1404 (KOREAN)
G=0.488923/8194 (TOMMO)
G=0.493789/159 (HapMap)
HGVS:: NC_000005.10:g.55650062G>A, NC_000005.10:g.55650062G>C, NC_000005.9:g.54945890G>A, NC_000005.9:g.54945890G>C

Select item 11337383.

rs1133738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:55697631 (GRCh38)
5:54993459 (GRCh37)
Canonical SPDI:: NC_000005.10:55697630:C:A,NC_000005.10:55697630:C:G,NC_000005.10:55697630:C:T
Gene:: SLC38A9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.364658/6876 (ALFA)
T=0./0 (KOREAN)
C=0.274194/119 (SGDP_PRJ)
C=0.297212/1322 (Estonian)
C=0.3/12 (GENOME_DK)
C=0.31/186 (NorthernSweden)
C=0.318182/14 (Siberian)
C=0.329288/1221 (TWINSUK)
C=0.333679/1286 (ALSPAC)
C=0.355711/355 (GoNL)
C=0.393519/85 (Qatari)
C=0.399993/54051 (GnomAD)
C=0.41767/110553 (TOPMED)
C=0.440662/2207 (1000Genomes)
A=0.46179/846 (Korea1K)
C=0.48864/8190 (TOMMO)
HGVS:: NC_000005.10:g.55697631C>A, NC_000005.10:g.55697631C>G, NC_000005.10:g.55697631C>T, NC_000005.9:g.54993459C>A, NC_000005.9:g.54993459C>G, NC_000005.9:g.54993459C>T

Select item 12912914.

rs1291291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:55705874 (GRCh38)
5:55001702 (GRCh37)
Canonical SPDI:: NC_000005.10:55705873:A:T
Gene:: SLC38A9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000005.10:g.55705874A>T, NC_000005.9:g.55001702A>T

Select item 13149685.

rs1314968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:55696582 (GRCh38)
5:54992410 (GRCh37)
Canonical SPDI:: NC_000005.10:55696581:T:A,NC_000005.10:55696581:T:C
Gene:: SLC38A9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.001/14 (TOMMO)
C=0.0013/31 (GnomAD)
C=0.20293/513 (KOREAN)
T=0.34375/33 (SGDP_PRJ)
T=0.4537/98 (Qatari)
HGVS:: NC_000005.10:g.55696582T>A, NC_000005.10:g.55696582T>C, NC_000005.9:g.54992410T>A, NC_000005.9:g.54992410T>C

Select item 13149696.

rs1314969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:55696575 (GRCh38)
5:54992403 (GRCh37)
Canonical SPDI:: NC_000005.10:55696574:G:A,NC_000005.10:55696574:G:C
Gene:: SLC38A9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00004/1 (TOMMO)
A=0.01139/29 (KOREAN)
HGVS:: NC_000005.10:g.55696575G>A, NC_000005.10:g.55696575G>C, NC_000005.9:g.54992403G>A, NC_000005.9:g.54992403G>C

Select item 13159867.

rs1315986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:55696648 (GRCh38)
5:54992476 (GRCh37)
Canonical SPDI:: NC_000005.10:55696647:C:A,NC_000005.10:55696647:C:G,NC_000005.10:55696647:C:T
Gene:: SLC38A9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00289/45 (TOMMO)
T=0.02021/54 (KOREAN)
C=0.375/3 (SGDP_PRJ)
HGVS:: NC_000005.10:g.55696648C>A, NC_000005.10:g.55696648C>G, NC_000005.10:g.55696648C>T, NC_000005.9:g.54992476C>A, NC_000005.9:g.54992476C>G, NC_000005.9:g.54992476C>T

Select item 13161218.

rs1316121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 5:55696690 (GRCh38)
5:54992518 (GRCh37)
Canonical SPDI:: NC_000005.10:55696689:A:C,NC_000005.10:55696689:A:G,NC_000005.10:55696689:A:T
Gene:: SLC38A9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.125/23 (Qatari)
G=0.1341/385 (KOREAN)
T=0.3333/6 (SGDP_PRJ)
HGVS:: NC_000005.10:g.55696690A>C, NC_000005.10:g.55696690A>G, NC_000005.10:g.55696690A>T, NC_000005.9:g.54992518A>C, NC_000005.9:g.54992518A>G, NC_000005.9:g.54992518A>T

Select item 13740479.

rs1374047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:55672993 (GRCh38)
5:54968821 (GRCh37)
Canonical SPDI:: NC_000005.10:55672992:C:A,NC_000005.10:55672992:C:G,NC_000005.10:55672992:C:T
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.274194/119 (SGDP_PRJ)
C=0.289955/1299 (Estonian)
C=0.3/12 (GENOME_DK)
C=0.308333/185 (NorthernSweden)
C=0.318182/14 (Siberian)
C=0.329558/1222 (TWINSUK)
C=0.333679/1286 (ALSPAC)
C=0.353707/353 (GoNL)
T=0.388889/84 (Vietnamese)
C=0.393519/85 (Qatari)
C=0.402337/56303 (GnomAD)
C=0.417836/110597 (TOPMED)
C=0.441131/2209 (1000Genomes)
T=0.462336/847 (Korea1K)
C=0.477801/904 (HapMap)
T=0.479522/1405 (KOREAN)
C=0.488853/8193 (TOMMO)
HGVS:: NC_000005.10:g.55672993C>A, NC_000005.10:g.55672993C>G, NC_000005.10:g.55672993C>T, NC_000005.9:g.54968821C>A, NC_000005.9:g.54968821C>G, NC_000005.9:g.54968821C>T

Select item 137404810.

rs1374048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55672846 (GRCh38)
5:54968674 (GRCh37)
Canonical SPDI:: NC_000005.10:55672845:T:C
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.363314/6863 (ALFA)
T=0.274194/119 (SGDP_PRJ)
T=0.289732/1298 (Estonian)
T=0.3/12 (GENOME_DK)
T=0.31/186 (NorthernSweden)
T=0.318182/14 (Siberian)
T=0.329018/1220 (TWINSUK)
T=0.333939/1287 (ALSPAC)
T=0.353707/353 (GoNL)
C=0.385714/81 (Vietnamese)
T=0.404054/56578 (GnomAD)
T=0.416667/90 (Qatari)
T=0.419525/111044 (TOPMED)
T=0.443317/2220 (1000Genomes)
C=0.461245/845 (Korea1K)
C=0.479863/1406 (KOREAN)
T=0.488817/8193 (TOMMO)
HGVS:: NC_000005.10:g.55672846T>C, NC_000005.9:g.54968674T>C

Select item 181146911.

rs1811469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 5:55704736 (GRCh38)
5:55000564 (GRCh37)
Canonical SPDI:: NC_000005.10:55704735:T:A,NC_000005.10:55704735:T:G
Gene:: SLC38A9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.347906/99142 (ALFA)
T=0.266667/8 (PRJEB36033)
T=0.274194/119 (SGDP_PRJ)
T=0.289509/1297 (Estonian)
T=0.3/12 (GENOME_DK)
T=0.308333/185 (NorthernSweden)
T=0.318182/14 (Siberian)
T=0.330367/1225 (TWINSUK)
T=0.333939/1287 (ALSPAC)
T=0.356713/356 (GoNL)
G=0.391509/83 (Vietnamese)
T=0.393519/85 (Qatari)
T=0.402695/56358 (GnomAD)
T=0.411228/857 (HGDP_Stanford)
T=0.417738/110571 (TOPMED)
T=0.440506/2821 (1000Genomes)
G=0.46179/846 (Korea1K)
G=0.472152/373 (PRJEB37584)
T=0.477225/901 (HapMap)
G=0.479863/1406 (KOREAN)
T=0.488853/8193 (TOMMO)
HGVS:: NC_000005.10:g.55704736T>A, NC_000005.10:g.55704736T>G, NC_000005.9:g.55000564T>A, NC_000005.9:g.55000564T>G

Select item 186253412.

rs1862534 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:55649630 (GRCh38)
5:54945458 (GRCh37)
Canonical SPDI:: NC_000005.10:55649629:C:A,NC_000005.10:55649629:C:T
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.366596/6925 (ALFA)
C=0.276744/119 (SGDP_PRJ)
C=0.289732/1298 (Estonian)
C=0.3/12 (GENOME_DK)
C=0.308333/185 (NorthernSweden)
C=0.318182/14 (Siberian)
C=0.329827/1223 (TWINSUK)
C=0.334198/1288 (ALSPAC)
C=0.353707/353 (GoNL)
T=0.391509/83 (Vietnamese)
C=0.408289/57109 (GnomAD)
C=0.421296/91 (Qatari)
C=0.423628/112130 (TOPMED)
C=0.444722/2227 (1000Genomes)
T=0.462336/847 (Korea1K)
T=0.480205/1407 (KOREAN)
C=0.488994/8196 (TOMMO)
HGVS:: NC_000005.10:g.55649630C>A, NC_000005.10:g.55649630C>T, NC_000005.9:g.54945458C>A, NC_000005.9:g.54945458C>T

Select item 186253513.

rs1862535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:55649571 (GRCh38)
5:54945399 (GRCh37)
Canonical SPDI:: NC_000005.10:55649570:C:A,NC_000005.10:55649570:C:T
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.369587/6623 (ALFA)
C=0.276744/119 (SGDP_PRJ)
C=0.289955/1299 (Estonian)
C=0.3/12 (GENOME_DK)
C=0.308333/185 (NorthernSweden)
C=0.318182/14 (Siberian)
C=0.329558/1222 (TWINSUK)
C=0.33342/1285 (ALSPAC)
C=0.353707/353 (GoNL)
T=0.406542/87 (Vietnamese)
C=0.408532/57143 (GnomAD)
C=0.421296/91 (Qatari)
C=0.423677/112143 (TOPMED)
C=0.444722/2227 (1000Genomes)
T=0.462336/847 (Korea1K)
T=0.479181/1404 (KOREAN)
C=0.489065/8197 (TOMMO)
HGVS:: NC_000005.10:g.55649571C>A, NC_000005.10:g.55649571C>T, NC_000005.9:g.54945399C>A, NC_000005.9:g.54945399C>T

Select item 201444314.

rs2014443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:55649715 (GRCh38)
5:54945543 (GRCh37)
Canonical SPDI:: NC_000005.10:55649714:G:A
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.366702/6927 (ALFA)
G=0.276744/119 (SGDP_PRJ)
G=0.290179/1300 (Estonian)
G=0.3/12 (GENOME_DK)
G=0.308333/185 (NorthernSweden)
G=0.318182/14 (Siberian)
G=0.329558/1222 (TWINSUK)
G=0.33342/1285 (ALSPAC)
G=0.353707/353 (GoNL)
A=0.40566/86 (Vietnamese)
G=0.408121/57083 (GnomAD)
G=0.421296/91 (Qatari)
G=0.423624/112129 (TOPMED)
G=0.444722/2227 (1000Genomes)
A=0.462336/847 (Korea1K)
A=0.479508/1404 (KOREAN)
G=0.488887/8194 (TOMMO)
HGVS:: NC_000005.10:g.55649715G>A, NC_000005.9:g.54945543G>A

Select item 201445815.

rs2014458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55649847 (GRCh38)
5:54945675 (GRCh37)
Canonical SPDI:: NC_000005.10:55649846:A:G
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.356567/64013 (ALFA)
A=0.276744/119 (SGDP_PRJ)
A=0.290848/1303 (Estonian)
A=0.3/12 (GENOME_DK)
A=0.31/186 (NorthernSweden)
A=0.318182/14 (Siberian)
A=0.329827/1223 (TWINSUK)
A=0.333679/1286 (ALSPAC)
A=0.353707/353 (GoNL)
G=0.369159/79 (Vietnamese)
A=0.408398/57121 (GnomAD)
A=0.421296/91 (Qatari)
A=0.423647/112135 (TOPMED)
A=0.430019/891 (HGDP_Stanford)
A=0.4375/14 (PRJEB36033)
A=0.444722/2227 (1000Genomes)
G=0.462336/847 (Korea1K)
G=0.463291/366 (PRJEB37584)
G=0.479181/1404 (KOREAN)
A=0.489171/8199 (TOMMO)
G=0.489899/679 (HapMap)
HGVS:: NC_000005.10:g.55649847A>G, NC_000005.9:g.54945675A>G

Select item 204230616.

rs2042306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:55661546 (GRCh38)
5:54957374 (GRCh37)
Canonical SPDI:: NC_000005.10:55661545:C:A,NC_000005.10:55661545:C:G,NC_000005.10:55661545:C:T
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.363367/6864 (ALFA)
G=0./0 (KOREAN)
C=0.274194/119 (SGDP_PRJ)
C=0.290179/1300 (Estonian)
C=0.3/12 (GENOME_DK)
C=0.308333/185 (NorthernSweden)
C=0.318182/14 (Siberian)
C=0.329018/1220 (TWINSUK)
C=0.333679/1286 (ALSPAC)
C=0.353707/353 (GoNL)
C=0.40366/56330 (GnomAD)
C=0.416667/90 (Qatari)
C=0.419487/111034 (TOPMED)
C=0.443473/2221 (1000Genomes)
T=0.460699/844 (Korea1K)
C=0.490655/8223 (TOMMO)
C=0.490741/159 (HapMap)
HGVS:: NC_000005.10:g.55661546C>A, NC_000005.10:g.55661546C>G, NC_000005.10:g.55661546C>T, NC_000005.9:g.54957374C>A, NC_000005.9:g.54957374C>G, NC_000005.9:g.54957374C>T

Select item 204230717.

rs2042307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:55643181 (GRCh38)
5:54939009 (GRCh37)
Canonical SPDI:: NC_000005.10:55643180:C:G
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.366649/6926 (ALFA)
C=0.276744/119 (SGDP_PRJ)
C=0.289955/1299 (Estonian)
C=0.3/12 (GENOME_DK)
C=0.308333/185 (NorthernSweden)
C=0.318182/14 (Siberian)
C=0.329558/1222 (TWINSUK)
C=0.334458/1289 (ALSPAC)
C=0.353707/353 (GoNL)
G=0.38785/83 (Vietnamese)
C=0.408085/57127 (GnomAD)
C=0.421296/91 (Qatari)
C=0.423737/112159 (TOPMED)
C=0.444566/2226 (1000Genomes)
G=0.462336/847 (Korea1K)
G=0.479522/1405 (KOREAN)
C=0.488888/8194 (TOMMO)
HGVS:: NC_000005.10:g.55643181C>G, NC_000005.9:g.54939009C>G

Select item 204230818.

rs2042308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55643117 (GRCh38)
5:54938945 (GRCh37)
Canonical SPDI:: NC_000005.10:55643116:T:C
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.36649/6923 (ALFA)
T=0.276744/119 (SGDP_PRJ)
T=0.289509/1297 (Estonian)
T=0.3/12 (GENOME_DK)
T=0.308333/185 (NorthernSweden)
T=0.318182/14 (Siberian)
T=0.330367/1225 (TWINSUK)
T=0.334198/1288 (ALSPAC)
T=0.353707/353 (GoNL)
C=0.38785/83 (Vietnamese)
T=0.408147/57139 (GnomAD)
T=0.421296/91 (Qatari)
T=0.423635/112132 (TOPMED)
T=0.44441/2226 (1000Genomes)
C=0.462336/847 (Korea1K)
C=0.479863/1406 (KOREAN)
T=0.488923/8194 (TOMMO)
T=0.493827/160 (HapMap)
HGVS:: NC_000005.10:g.55643117T>C, NC_000005.9:g.54938945T>C

Select item 204230919.

rs2042309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:55642872 (GRCh38)
5:54938700 (GRCh37)
Canonical SPDI:: NC_000005.10:55642871:T:C,NC_000005.10:55642871:T:G
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.401679/8898 (ALFA)
T=0.293103/119 (SGDP_PRJ)
T=0.297991/1335 (Estonian)
T=0.3/12 (GENOME_DK)
T=0.318182/14 (Siberian)
T=0.33/198 (NorthernSweden)
C=0.336449/72 (Vietnamese)
T=0.348706/1293 (TWINSUK)
T=0.354177/1365 (ALSPAC)
T=0.371743/371 (GoNL)
C=0.41976/769 (Korea1K)
C=0.444369/1302 (KOREAN)
C=0.445032/842 (HapMap)
T=0.446617/62530 (GnomAD)
T=0.464355/122910 (TOPMED)
C=0.465213/7797 (TOMMO)
T=0.481481/104 (Qatari)
T=0.494222/2475 (1000Genomes)
HGVS:: NC_000005.10:g.55642872T>C, NC_000005.10:g.55642872T>G, NC_000005.9:g.54938700T>C, NC_000005.9:g.54938700T>G

Select item 216150420.

rs2161504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:55635278 (GRCh38)
5:54931106 (GRCh37)
Canonical SPDI:: NC_000005.10:55635277:C:A,NC_000005.10:55635277:C:T
Gene:: SLC38A9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.403599/80639 (ALFA)
C=0.29703/120 (SGDP_PRJ)
C=0.3/12 (GENOME_DK)
C=0.318182/14 (Siberian)
C=0.327455/1467 (Estonian)
T=0.339806/70 (Vietnamese)
C=0.351667/211 (NorthernSweden)
C=0.378371/1403 (TWINSUK)
C=0.383498/1478 (ALSPAC)
C=0.390782/390 (GoNL)
T=0.420467/793 (HapMap)
C=0.428571/12 (PRJEB36033)
T=0.432314/792 (Korea1K)
T=0.450171/1319 (KOREAN)
T=0.469/7860 (TOMMO)
C=0.476008/992 (HGDP_Stanford)
C=0.480977/67257 (GnomAD)
T=0.483292/2420 (1000Genomes)
T=0.49537/107 (Qatari)
C=0.495867/131251 (TOPMED)
HGVS:: NC_000005.10:g.55635278C>A, NC_000005.10:g.55635278C>T, NC_000005.9:g.54931106C>A, NC_000005.9:g.54931106C>T

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