SNP Links for PMC (Select 4170585) - SNP

Links from PMC

Items: 1 to 20 of 109

<< First< Prev

Page of 6

Next >Last >>

Select item 177149881.

rs17714988 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:74421523 (GRCh38)
13:74995660 (GRCh37)
Canonical SPDI:: NC_000013.11:74421522:A:G
Gene:: LINC00381 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.075315/13562 (ALFA)
G=0.003788/3 (PRJEB37584)
G=0.028264/142 (1000Genomes)
G=0.028856/2271 (PAGE_STUDY)
G=0.03119/65 (HGDP_Stanford)
G=0.043919/39 (HapMap)
G=0.050739/13430 (TOPMED)
G=0.050926/11 (Qatari)
G=0.056815/7968 (GnomAD)
G=0.073146/73 (GoNL)
G=0.075782/281 (TWINSUK)
G=0.083333/2 (PRJEB36033)
G=0.086667/52 (NorthernSweden)
G=0.087442/337 (ALSPAC)
G=0.113393/508 (Estonian)
G=0.15/6 (GENOME_DK)
A=0.375/9 (SGDP_PRJ)
A=0.5/8 (Siberian)
HGVS:: NC_000013.11:g.74421523A>G, NC_000013.10:g.74995660A>G

PubMed

Select item 174440592.

rs17444059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:59264891 (GRCh38)
5:58560717 (GRCh37)
Canonical SPDI:: NC_000005.10:59264890:T:C
Gene:: PDE4D (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.114351/19803 (ALFA)
C=0.037037/8 (Vietnamese)
C=0.05/2 (GENOME_DK)
C=0.059355/4671 (PAGE_STUDY)
C=0.060606/48 (PRJEB37584)
C=0.069956/350 (1000Genomes)
C=0.072545/325 (Estonian)
C=0.073996/140 (HapMap)
C=0.08/48 (NorthernSweden)
C=0.082893/21941 (TOPMED)
C=0.083013/173 (HGDP_Stanford)
C=0.085011/11902 (GnomAD)
C=0.100437/184 (Korea1K)
C=0.108532/318 (KOREAN)
C=0.115507/1936 (TOMMO)
C=0.115741/25 (Qatari)
C=0.126253/126 (GoNL)
C=0.129216/498 (ALSPAC)
C=0.135922/504 (TWINSUK)
C=0.2/12 (PRJEB36033)
T=0.464286/39 (SGDP_PRJ)
T=0.5/9 (Siberian)
HGVS:: NC_000005.10:g.59264891T>C, NC_000005.9:g.58560717T>C, NG_027957.2:g.1264439A>G

PubMed

Select item 173311513.

rs17331151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:52810518 (GRCh38)
3:52844534 (GRCh37)
Canonical SPDI:: NC_000003.12:52810517:C:A,NC_000003.12:52810517:C:T
Gene:: LOC124906240 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.107753/32819 (ALFA)
T=0.013889/3 (Qatari)
T=0.048767/87 (HapMap)
T=0.05278/264 (1000Genomes)
T=0.054039/99 (Korea1K)
T=0.054701/4305 (PAGE_STUDY)
T=0.055878/937 (TOMMO)
T=0.060185/13 (Vietnamese)
T=0.060606/48 (PRJEB37584)
T=0.06314/185 (KOREAN)
T=0.064299/134 (HGDP_Stanford)
T=0.075976/20110 (TOPMED)
T=0.084598/379 (Estonian)
T=0.1/4 (PRJEB36033)
T=0.1002/100 (GoNL)
T=0.107161/413 (ALSPAC)
T=0.122708/455 (TWINSUK)
T=0.133333/80 (NorthernSweden)
T=0.175/7 (GENOME_DK)
C=0.470588/32 (SGDP_PRJ)
C=0.5/5 (Siberian)
HGVS:: NC_000003.12:g.52810518C>A, NC_000003.12:g.52810518C>T, NC_000003.11:g.52844534C>A, NC_000003.11:g.52844534C>T, XR_007095911.1:n.103G>T, XR_007095911.1:n.103G>A

PubMed

Select item 172998414.

rs17299841 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:127700658 (GRCh38)
6:128021803 (GRCh37)
Canonical SPDI:: NC_000006.12:127700657:A:C,NC_000006.12:127700657:A:G
Gene:: THEMIS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.08153/24619 (ALFA)
C=0./0 (PRJEB36033)
C=0.001269/1 (PRJEB37584)
C=0.023148/5 (Qatari)
C=0.037241/61 (HapMap)
C=0.039787/3131 (PAGE_STUDY)
C=0.040307/84 (HGDP_Stanford)
C=0.043254/217 (1000Genomes)
C=0.064652/9058 (GnomAD)
C=0.075/3 (GENOME_DK)
C=0.090555/349 (ALSPAC)
C=0.091424/339 (TWINSUK)
C=0.103206/103 (GoNL)
C=0.116667/70 (NorthernSweden)
C=0.124554/558 (Estonian)
A=0.47619/20 (SGDP_PRJ)
A=0.5/8 (Siberian)
HGVS:: NC_000006.12:g.127700658A>C, NC_000006.12:g.127700658A>G, NC_000006.11:g.128021803A>C, NC_000006.11:g.128021803A>G, NT_187556.1:g.45856A>C, NT_187556.1:g.45856A>G, XM_047418766.1:c.*9327T>G, XM_047418766.1:c.*9327T>C, XM_047418764.1:c.*9327T>G, XM_047418764.1:c.*9327T>C

PubMed

Select item 172907605.

rs17290760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:32556382 (GRCh38)
9:32556380 (GRCh37)
Canonical SPDI:: NC_000009.12:32556381:A:G
Gene:: NDUFB6 (Varview), SMIM27 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.140106/24268 (ALFA)
G=0.009434/2 (Vietnamese)
G=0.009696/163 (TOMMO)
G=0.016085/47 (KOREAN)
G=0.026515/21 (PRJEB37584)
G=0.055814/4392 (PAGE_STUDY)
G=0.058869/295 (1000Genomes)
G=0.077227/137 (HapMap)
G=0.09501/198 (HGDP_Stanford)
G=0.096849/25635 (TOPMED)
G=0.1/4 (GENOME_DK)
G=0.103601/14530 (GnomAD)
G=0.123246/123 (GoNL)
G=0.126214/468 (TWINSUK)
G=0.138616/621 (Estonian)
G=0.143228/552 (ALSPAC)
G=0.156667/94 (NorthernSweden)
G=0.199074/43 (Qatari)
G=0.27907/24 (PRJEB36033)
A=0.475/38 (SGDP_PRJ)
A=0.5/3 (Siberian)
HGVS:: NC_000009.12:g.32556382A>G, NC_000009.11:g.32556380A>G, NG_011511.1:g.21803T>C, NG_017050.1:g.1243T>C

PubMed

Select item 172529366.

rs17252936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:150467029 (GRCh38)
X:149635295 (GRCh37)
Canonical SPDI:: NC_000023.11:150467028:A:G,NC_000023.11:150467028:A:T
Gene:: MAMLD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.127341/18784 (ALFA)
G=0.018519/2 (Qatari)
G=0.051926/151 (KOREAN)
G=0.062368/118 (HapMap)
G=0.064516/244 (1000Genomes)
G=0.068966/4 (PRJEB36033)
G=0.080134/167 (HGDP_Stanford)
G=0.08646/22885 (TOPMED)
G=0.110471/8987 (GnomAD)
G=0.129803/375 (ALSPAC)
G=0.13808/512 (TWINSUK)
G=0.15/6 (GENOME_DK)
A=0.222222/12 (SGDP_PRJ)
A=0.25/1 (Siberian)
HGVS:: NC_000023.11:g.150467029A>G, NC_000023.11:g.150467029A>T, NW_004070890.2:g.5991427A>G, NW_004070890.2:g.5991427A>T, NG_017093.2:g.108732A>G, NG_017093.2:g.108732A>T, NC_000023.10:g.149635295A>G, NC_000023.10:g.149635295A>T

PubMed

Select item 172312127.

rs17231212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:135100989 (GRCh38)
7:134785741 (GRCh37)
Canonical SPDI:: NC_000007.14:135100988:T:C
Gene:: CYREN (Varview), AGBL3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.083551/19921 (ALFA)
C=0.001263/1 (PRJEB37584)
C=0.017606/20 (Daghestan)
C=0.021593/45 (HGDP_Stanford)
C=0.025/1 (GENOME_DK)
C=0.028107/141 (1000Genomes)
C=0.030167/2374 (PAGE_STUDY)
C=0.032731/29 (HapMap)
C=0.037037/8 (Qatari)
C=0.054868/14523 (TOPMED)
C=0.056667/34 (NorthernSweden)
C=0.062423/8755 (GnomAD)
C=0.092184/92 (GoNL)
C=0.094188/363 (ALSPAC)
C=0.102751/381 (TWINSUK)
C=0.103348/463 (Estonian)
C=0.125/4 (PRJEB36033)
T=0.444444/8 (SGDP_PRJ)
T=0.5/4 (Siberian)
HGVS:: NC_000007.14:g.135100989T>C, NC_000007.13:g.134785741T>C

PubMed

Select item 172213238.

rs17221323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:572745 (GRCh38)
10:618685 (GRCh37)
Canonical SPDI:: NC_000010.11:572744:T:C
Gene:: DIP2C (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.175023/15632 (ALFA)
C=0./0 (Korea1K)
C=0.000684/2 (KOREAN)
C=0.069176/346 (1000Genomes)
C=0.091978/133 (HapMap)
C=0.09357/195 (HGDP_Stanford)
C=0.095847/60 (Chileans)
C=0.1/4 (GENOME_DK)
C=0.118966/31489 (TOPMED)
C=0.127472/17843 (GnomAD)
C=0.167335/167 (GoNL)
C=0.183965/709 (ALSPAC)
C=0.188839/846 (Estonian)
C=0.19849/736 (TWINSUK)
C=0.2/120 (NorthernSweden)
C=0.206897/12 (PRJEB36033)
C=0.226852/49 (Qatari)
T=0.477778/43 (SGDP_PRJ)
T=0.5/5 (Siberian)
HGVS:: NC_000010.11:g.572745T>C, NC_000010.10:g.618685T>C

PubMed

Select item 171685269.

rs17168526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:7531789 (GRCh38)
7:7571420 (GRCh37)
Canonical SPDI:: NC_000007.14:7531788:T:C,NC_000007.14:7531788:T:G
Gene:: COL28A1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002274/656 (ALFA)
C=0./0 (PRJEB36033)
C=0./0 (TWINSUK)
C=0.000071/1 (TOMMO)
C=0.000519/2 (ALSPAC)
C=0.000546/1 (Korea1K)
C=0.001263/1 (PRJEB37584)
C=0.003745/2 (MGP)
C=0.005728/1426 (GnomAD_exomes)
C=0.00684/824 (ExAC)
C=0.013889/3 (Qatari)
C=0.016795/35 (HGDP_Stanford)
C=0.023933/286 (GoESP)
C=0.024447/6471 (TOPMED)
C=0.025765/129 (1000Genomes)
C=0.035528/2796 (PAGE_STUDY)
C=0.087174/87 (HapMap)
T=0.5/7 (SGDP_PRJ)
HGVS:: NC_000007.14:g.7531789T>C, NC_000007.14:g.7531789T>G, NC_000007.13:g.7571420T>C, NC_000007.13:g.7571420T>G, XM_011515358.4:c.240A>G, XM_011515358.4:c.240A>C, XM_011515358.3:c.240A>G, XM_011515358.3:c.240A>C, XM_011515358.2:c.240A>G, XM_011515358.2:c.240A>C, XM_011515358.1:c.240A>G, XM_011515358.1:c.240A>C, XR_926936.4:n.401A>G, XR_926936.4:n.401A>C, XR_926936.3:n.1642A>G, XR_926936.3:n.1642A>C, XR_926936.2:n.1642A>G, XR_926936.2:n.1642A>C, XR_926936.1:n.443A>G, XR_926936.1:n.443A>C, XM_011515360.3:c.240A>G, XM_011515360.3:c.240A>C, XM_011515360.2:c.240A>G, XM_011515360.2:c.240A>C, XM_011515360.1:c.240A>G, XM_011515360.1:c.240A>C, XM_011515364.3:c.240A>G, XM_011515364.3:c.240A>C, XM_011515364.2:c.240A>G, XM_011515364.2:c.240A>C, XM_011515364.1:c.240A>G, XM_011515364.1:c.240A>C, NM_001037763.3:c.240A>G, NM_001037763.3:c.240A>C, NM_001037763.2:c.240A>G, NM_001037763.2:c.240A>C, XM_011515363.3:c.240A>G, XM_011515363.3:c.240A>C, XM_011515363.2:c.240A>G, XM_011515363.2:c.240A>C, XM_011515363.1:c.240A>G, XM_011515363.1:c.240A>C, XM_011515366.3:c.240A>G, XM_011515366.3:c.240A>C, XM_011515366.2:c.240A>G, XM_011515366.2:c.240A>C, XM_011515366.1:c.240A>G, XM_011515366.1:c.240A>C, XM_011515365.3:c.240A>G, XM_011515365.3:c.240A>C, XM_011515365.2:c.240A>G, XM_011515365.2:c.240A>C, XM_011515365.1:c.240A>G, XM_011515365.1:c.240A>C, XM_011515359.2:c.240A>G, XM_011515359.2:c.240A>C, XM_011515359.1:c.240A>G, XM_011515359.1:c.240A>C, XM_017012133.2:c.240A>G, XM_017012133.2:c.240A>C, XM_017012133.1:c.240A>G, XM_017012133.1:c.240A>C, XM_047420313.1:c.240A>G, XM_047420313.1:c.240A>C, XP_011513660.1:p.Gln80His, XP_011513662.1:p.Gln80His, XP_011513666.1:p.Gln80His, NP_001032852.2:p.Gln80His, XP_011513665.1:p.Gln80His, XP_011513668.1:p.Gln80His, XP_011513667.1:p.Gln80His, XP_011513661.1:p.Gln80His, XP_016867622.1:p.Gln80His, XP_047276269.1:p.Gln80His

PubMed

Select item 1714246210.

rs17142462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:119966578 (GRCh38)
7:119606632 (GRCh37)
Canonical SPDI:: NC_000007.14:119966577:C:A,NC_000007.14:119966577:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.01553/2596 (ALFA)
T=0./0 (PRJEB36033)
T=0.001667/1 (NorthernSweden)
T=0.006012/6 (GoNL)
T=0.006696/30 (Estonian)
T=0.006746/26 (ALSPAC)
T=0.011327/42 (TWINSUK)
T=0.014377/9 (Chileans)
T=0.01614/3310 (GENOGRAPHIC)
T=0.026201/48 (Korea1K)
T=0.033053/554 (TOMMO)
T=0.039014/114 (KOREAN)
T=0.041667/9 (Qatari)
T=0.042929/34 (PRJEB37584)
T=0.054702/114 (HGDP_Stanford)
T=0.059318/15701 (TOPMED)
T=0.072299/362 (1000Genomes)
T=0.086614/154 (HapMap)
T=0.090366/7112 (PAGE_STUDY)
C=0.444444/24 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000007.14:g.119966578C>A, NC_000007.14:g.119966578C>T, NC_000007.13:g.119606632C>A, NC_000007.13:g.119606632C>T

PubMed

Select item 1700776111.

rs17007761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:122468047 (GRCh38)
2:123225623 (GRCh37)
Canonical SPDI:: NC_000002.12:122468046:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.059388/18088 (ALFA)
A=0.00501/5 (GoNL)
A=0.025/2 (PRJEB36033)
A=0.041964/188 (Estonian)
A=0.046667/28 (NorthernSweden)
A=0.05/2 (GENOME_DK)
A=0.056095/208 (TWINSUK)
A=0.057656/8081 (GnomAD)
A=0.059938/231 (ALSPAC)
A=0.065217/123 (HapMap)
A=0.069304/18344 (TOPMED)
A=0.083333/18 (Qatari)
A=0.088579/6971 (PAGE_STUDY)
A=0.096502/483 (1000Genomes)
A=0.096616/177 (Korea1K)
A=0.105566/220 (HGDP_Stanford)
A=0.106384/1783 (TOMMO)
A=0.111392/88 (PRJEB37584)
A=0.116041/340 (KOREAN)
A=0.141509/30 (Vietnamese)
C=0.427419/53 (SGDP_PRJ)
C=0.5/1 (Siberian)
HGVS:: NC_000002.12:g.122468047C>A, NC_000002.11:g.123225623C>A

PubMed

Select item 1700091812.

rs17000918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:49418853 (GRCh38)
22:49812502 (GRCh37)
Canonical SPDI:: NC_000022.11:49418852:C:A
Gene:: MIR3667HG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003288/740 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (PRJEB36033)
A=0.00027/1 (TWINSUK)
A=0.011036/23 (HGDP_Stanford)
A=0.018519/4 (Qatari)
A=0.023838/3344 (GnomAD)
A=0.025105/6645 (TOPMED)
A=0.025921/130 (1000Genomes)
A=0.037195/2927 (PAGE_STUDY)
A=0.083/83 (HapMap)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000022.11:g.49418853C>A, NC_000022.10:g.49812502C>A

PubMed

Select item 1699433513.

rs16994335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:34536307 (GRCh38)
22:34932299 (GRCh37)
Canonical SPDI:: NC_000022.11:34536306:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.100049/8986 (ALFA)
A=0.025/1 (GENOME_DK)
A=0.051118/32 (Chileans)
A=0.062277/279 (Estonian)
A=0.0625/2 (PRJEB36033)
A=0.073417/153 (HGDP_Stanford)
A=0.088176/88 (GoNL)
A=0.091424/339 (TWINSUK)
A=0.091667/55 (NorthernSweden)
A=0.097302/375 (ALSPAC)
A=0.12963/28 (Qatari)
A=0.131793/660 (1000Genomes)
A=0.158431/41935 (TOPMED)
A=0.161035/22532 (GnomAD)
A=0.173299/270 (HapMap)
G=0.454545/30 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000022.11:g.34536307G>A, NC_000022.10:g.34932299G>A

PubMed

Select item 1697088114.

rs16970881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:21101951 (GRCh38)
16:21113272 (GRCh37)
Canonical SPDI:: NC_000016.10:21101950:G:A
Gene:: DNAH3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.042528/12528 (ALFA)
A=0.026786/120 (Estonian)
A=0.03006/30 (GoNL)
A=0.034111/4783 (GnomAD)
A=0.03425/127 (TWINSUK)
A=0.036667/22 (NorthernSweden)
A=0.038921/150 (ALSPAC)
A=0.04061/10749 (TOPMED)
A=0.051056/58 (Daghestan)
A=0.052147/4103 (PAGE_STUDY)
A=0.052467/263 (1000Genomes)
A=0.056075/12 (Vietnamese)
A=0.058263/110 (HapMap)
A=0.074074/16 (Qatari)
A=0.088889/8 (PRJEB36033)
A=0.091739/191 (HGDP_Stanford)
A=0.210699/386 (Korea1K)
A=0.215017/630 (KOREAN)
A=0.223193/3741 (TOMMO)
A=0.23028/181 (PRJEB37584)
G=0.375/6 (Siberian)
G=0.458333/44 (SGDP_PRJ)
HGVS:: NC_000016.10:g.21101951G>A, NC_000016.9:g.21113272G>A, NG_052617.1:g.62491C>T

PubMed

Select item 1694820015.

rs16948200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:49488950 (GRCh38)
17:47566312 (GRCh37)
Canonical SPDI:: NC_000017.11:49488949:G:A,NC_000017.11:49488949:G:C,NC_000017.11:49488949:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (PRJEB36033)
A=0./0 (TWINSUK)
A=0.000259/1 (ALSPAC)
A=0.000684/2 (KOREAN)
A=0.010557/22 (HGDP_Stanford)
A=0.036786/9737 (TOPMED)
A=0.039975/200 (1000Genomes)
A=0.050926/11 (Qatari)
A=0.054706/4305 (PAGE_STUDY)
A=0.109403/121 (HapMap)
G=0.5/11 (SGDP_PRJ)
HGVS:: NC_000017.11:g.49488950G>A, NC_000017.11:g.49488950G>C, NC_000017.11:g.49488950G>T, NC_000017.10:g.47566312G>A, NC_000017.10:g.47566312G>C, NC_000017.10:g.47566312G>T

PubMed

Select item 1685357416.

rs16853574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:169361975 (GRCh38)
3:169079763 (GRCh37)
Canonical SPDI:: NC_000003.12:169361974:T:C
Gene:: MECOM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.050689/10337 (ALFA)
C=0./0 (PRJEB36033)
C=0.00463/1 (Qatari)
C=0.04/24 (NorthernSweden)
C=0.047419/79 (HapMap)
C=0.048569/6797 (GnomAD)
C=0.049098/49 (GoNL)
C=0.051815/13715 (TOPMED)
C=0.053263/111 (HGDP_Stanford)
C=0.055286/205 (TWINSUK)
C=0.05559/278 (1000Genomes)
C=0.055804/250 (Estonian)
C=0.056046/216 (ALSPAC)
C=0.058134/4575 (PAGE_STUDY)
C=0.075/3 (GENOME_DK)
C=0.083049/243 (KOREAN)
C=0.084189/1411 (TOMMO)
C=0.130841/28 (Vietnamese)
T=0.5/22 (SGDP_PRJ)
T=0.5/6 (Siberian)
HGVS:: NC_000003.12:g.169361975T>C, NC_000003.11:g.169079763T>C, NG_028279.2:g.306801A>G

PubMed

Select item 1685091817.

rs16850918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:74319044 (GRCh38)
4:75184761 (GRCh37)
Canonical SPDI:: NC_000004.12:74319043:A:G
Gene:: LOC105377276 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.030738/1754 (ALFA)
G=0.007282/27 (TWINSUK)
G=0.01002/10 (GoNL)
G=0.010491/47 (Estonian)
G=0.011667/7 (NorthernSweden)
G=0.014011/54 (ALSPAC)
G=0.041667/9 (Qatari)
G=0.046729/10 (Vietnamese)
G=0.05011/840 (TOMMO)
G=0.052632/2 (PRJEB36033)
G=0.052948/97 (Korea1K)
G=0.061016/8554 (GnomAD)
G=0.064846/190 (KOREAN)
G=0.06726/17803 (TOPMED)
G=0.072937/152 (HGDP_Stanford)
G=0.089163/447 (1000Genomes)
G=0.110994/210 (HapMap)
A=0.456522/42 (SGDP_PRJ)
HGVS:: NC_000004.12:g.74319044A>G, NC_000004.11:g.75184761A>G

PubMed

Select item 1685088518.

rs16850885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:74304423 (GRCh38)
4:75170140 (GRCh37)
Canonical SPDI:: NC_000004.12:74304422:G:A
Gene:: LOC105377276 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.021198/6355 (ALFA)
A=0.007012/26 (TWINSUK)
A=0.01002/10 (GoNL)
A=0.010714/48 (Estonian)
A=0.011667/7 (NorthernSweden)
A=0.014011/54 (ALSPAC)
A=0.031949/20 (Chileans)
A=0.041667/9 (Qatari)
A=0.046296/10 (Vietnamese)
A=0.050216/842 (TOMMO)
A=0.052402/96 (Korea1K)
A=0.052632/2 (PRJEB36033)
A=0.061443/8609 (GnomAD)
A=0.065188/191 (KOREAN)
A=0.067434/17849 (TOPMED)
A=0.072519/57 (PRJEB37584)
A=0.072937/152 (HGDP_Stanford)
A=0.089319/447 (1000Genomes)
A=0.101276/7970 (PAGE_STUDY)
A=0.111996/211 (HapMap)
G=0.456522/42 (SGDP_PRJ)
HGVS:: NC_000004.12:g.74304423G>A, NC_000004.11:g.75170140G>A

PubMed

Select item 1685086419.

rs16850864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:74295107 (GRCh38)
4:75160824 (GRCh37)
Canonical SPDI:: NC_000004.12:74295106:C:G,NC_000004.12:74295106:C:T
Gene:: MTHFD2L (Varview), LOC105377276 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.027329/5677 (ALFA)
T=0.007012/26 (TWINSUK)
T=0.010491/47 (Estonian)
T=0.011667/7 (NorthernSweden)
T=0.013026/13 (GoNL)
T=0.013752/53 (ALSPAC)
T=0.050145/840 (TOMMO)
T=0.051402/11 (Vietnamese)
T=0.052402/96 (Korea1K)
T=0.065188/191 (KOREAN)
T=0.066667/2 (PRJEB36033)
T=0.072519/57 (PRJEB37584)
T=0.101852/22 (Qatari)
T=0.111324/232 (HGDP_Stanford)
T=0.156152/782 (1000Genomes)
T=0.195878/15416 (PAGE_STUDY)
T=0.205074/388 (HapMap)
C=0.4375/56 (SGDP_PRJ)
HGVS:: NC_000004.12:g.74295107C>G, NC_000004.12:g.74295107C>T, NC_000004.11:g.75160824C>G, NC_000004.11:g.75160824C>T

PubMed

Select item 1341420520.

rs13414205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:44435336 (GRCh38)
2:44662475 (GRCh37)
Canonical SPDI:: NC_000002.12:44435335:C:T
Gene:: CAMKMT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.007212/1289 (ALFA)
T=0.000342/1 (KOREAN)
T=0.00088/1 (Daghestan)
T=0.001002/1 (GoNL)
T=0.010077/21 (HGDP_Stanford)
T=0.018519/4 (Qatari)
T=0.026316/2 (PRJEB36033)
T=0.033766/4722 (GnomAD)
T=0.036344/9620 (TOPMED)
T=0.044035/221 (1000Genomes)
T=0.052952/4167 (PAGE_STUDY)
T=0.067812/75 (HapMap)
C=0.444444/8 (SGDP_PRJ)
HGVS:: NC_000002.12:g.44435336C>T, NC_000002.11:g.44662475C>T, NG_032944.1:g.78433C>T

PubMed

<< First< Prev

Page of 6

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from PMC

Items: 1 to 20 of 109

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity