DNMT3A - SNP

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Select item 7346931.

rs734693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25241002 (GRCh38)
2:25463871 (GRCh37)
Canonical SPDI:: NC_000002.12:25241001:C:T
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.290075/21541 (ALFA)
C=0.2/8 (GENOME_DK)
C=0.203795/913 (Estonian)
C=0.205/123 (NorthernSweden)
C=0.222445/222 (GoNL)
T=0.259259/56 (Vietnamese)
C=0.261546/1008 (ALSPAC)
C=0.261905/11 (Siberian)
C=0.264563/981 (TWINSUK)
C=0.282828/112 (SGDP_PRJ)
T=0.328603/602 (Korea1K)
C=0.337963/73 (Qatari)
T=0.338908/993 (KOREAN)
T=0.34231/5737 (TOMMO)
C=0.347119/48571 (GnomAD)
T=0.359694/282 (PRJEB37584)
C=0.368038/97416 (TOPMED)
C=0.375/30 (PRJEB36033)
C=0.445298/928 (HGDP_Stanford)
C=0.479544/2402 (1000Genomes)
C=0.479915/908 (HapMap)
HGVS:: NC_000002.12:g.25241002C>T, NC_000002.11:g.25463871C>T, NG_029465.2:g.106589G>A

PubMed LitVar

Select item 15501172.

rs1550117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 2:25343038 (GRCh38)
2:25565907 (GRCh37)
Canonical SPDI:: NC_000002.12:25343037:A:C,NC_000002.12:25343037:A:G,NC_000002.12:25343037:A:T
Gene:: DNMT3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.08157/11604 (ALFA)
A=0.035714/2 (Siberian)
A=0.05/30 (NorthernSweden)
A=0.06014/223 (TWINSUK)
A=0.066165/255 (ALSPAC)
A=0.075/3 (GENOME_DK)
A=0.075446/338 (Estonian)
A=0.084623/11848 (GnomAD)
A=0.102626/27164 (TOPMED)
A=0.111111/24 (Qatari)
A=0.111961/561 (1000Genomes)
A=0.118393/224 (HapMap)
A=0.125/65 (SGDP_PRJ)
A=0.145529/11452 (PAGE_STUDY)
A=0.176396/139 (PRJEB37584)
A=0.217102/3638 (TOMMO)
A=0.227645/667 (KOREAN)
A=0.287736/61 (Vietnamese)
HGVS:: NC_000002.12:g.25343038A>C, NC_000002.12:g.25343038A>G, NC_000002.12:g.25343038A>T, NC_000002.11:g.25565907A>C, NC_000002.11:g.25565907A>G, NC_000002.11:g.25565907A>T, NG_029465.2:g.4553T>G, NG_029465.2:g.4553T>C, NG_029465.2:g.4553T>A

PubMed LitVar

Select item 22765983.

rs2276598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25246633 (GRCh38)
2:25469502 (GRCh37)
Canonical SPDI:: NC_000002.12:25246632:C:T
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.177642/11637 (ALFA)
T=0.021472/7 (HapMap)
T=0.117978/63 (MGP)
T=0.145361/539 (TWINSUK)
T=0.151012/582 (ALSPAC)
T=0.152778/33 (Qatari)
T=0.176353/176 (GoNL)
T=0.190004/47115 (GnomAD_exomes)
T=0.191294/22360 (ExAC)
T=0.195/117 (NorthernSweden)
T=0.19933/893 (Estonian)
T=0.204938/2656 (GoESP)
T=0.207237/63 (FINRISK)
T=0.212256/56182 (TOPMED)
T=0.212451/29772 (GnomAD)
T=0.225/9 (GENOME_DK)
T=0.226109/1132 (1000Genomes)
T=0.240281/18889 (PAGE_STUDY)
T=0.249469/4181 (TOMMO)
T=0.283959/832 (KOREAN)
T=0.337413/193 (Vietnamese)
C=0.395455/87 (SGDP_PRJ)
C=0.5/8 (Siberian)
HGVS:: NC_000002.12:g.25246633C>T, NC_000002.11:g.25469502C>T, NG_029465.2:g.100958G>A, NM_022552.5:c.1266G>A, NM_022552.4:c.1266G>A, NM_153759.3:c.699G>A, NR_135490.2:n.1497G>A, NR_135490.1:n.1604G>A, NM_175629.2:c.1266G>A, NM_001320893.1:c.810G>A, NM_001375819.1:c.597G>A, XM_005264175.6:c.1266G>A, XM_005264175.5:c.1266G>A, XM_005264175.4:c.1266G>A, XM_005264175.3:c.1266G>A, XM_005264175.2:c.1266G>A, XM_005264175.1:c.1266G>A, XM_011532667.4:c.597G>A, XM_011532667.3:c.597G>A, XM_011532667.2:c.597G>A, XM_011532667.1:c.597G>A, XM_011532662.3:c.1119G>A, XM_011532662.2:c.1119G>A, XM_011532662.1:c.1119G>A, XM_011532666.3:c.738G>A, XM_011532666.2:c.738G>A, XM_011532666.1:c.738G>A, XM_011532664.3:c.1266G>A, XM_011532664.2:c.1266G>A, XM_011532664.1:c.1266G>A, XM_017003526.2:c.1266G>A, XM_017003526.1:c.1266G>A, XM_017003527.2:c.597G>A, XM_017003527.1:c.597G>A, XM_047443594.1:c.786G>A, XM_047443592.1:c.969G>A, XM_047443598.1:c.597G>A, XM_047443597.1:c.597G>A, XM_047443596.1:c.597G>A, XM_047443593.1:c.1266G>A, XM_047443599.1:c.597G>A

PubMed LitVar

Select item 22765994.

rs2276599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25247044 (GRCh38)
2:25469913 (GRCh37)
Canonical SPDI:: NC_000002.12:25247043:C:T
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.277646/22200 (ALFA)
C=0.175/7 (GENOME_DK)
C=0.191667/115 (NorthernSweden)
C=0.197098/883 (Estonian)
C=0.218437/218 (GoNL)
C=0.22449/66 (FINRISK)
C=0.241525/114 (SGDP_PRJ)
C=0.256357/988 (ALSPAC)
C=0.259978/964 (TWINSUK)
C=0.26/13 (Siberian)
C=0.263158/20 (PRJEB36033)
C=0.283298/33351 (ExAC)
C=0.287461/71350 (GnomAD_exomes)
C=0.308349/43180 (GnomAD)
C=0.313701/4080 (GoESP)
C=0.314815/68 (Qatari)
C=0.322827/85449 (TOPMED)
C=0.338951/181 (MGP)
C=0.373832/80 (Vietnamese)
C=0.386321/1935 (1000Genomes)
C=0.421397/772 (Korea1K)
C=0.432423/1267 (KOREAN)
C=0.441256/7395 (TOMMO)
HGVS:: NC_000002.12:g.25247044C>T, NC_000002.11:g.25469913C>T, NG_029465.2:g.100547G>A

PubMed

Select item 22890935.

rs2289093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:25244019 (GRCh38)
2:25466888 (GRCh37)
Canonical SPDI:: NC_000002.12:25244018:G:C,NC_000002.12:25244018:G:T
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.269535/66857 (ALFA)
G=0.175/7 (GENOME_DK)
G=0.188333/113 (NorthernSweden)
G=0.196652/881 (Estonian)
G=0.217435/217 (GoNL)
G=0.239316/112 (SGDP_PRJ)
G=0.256617/989 (ALSPAC)
G=0.259439/962 (TWINSUK)
G=0.26/13 (Siberian)
G=0.272539/12914 (ExAC)
G=0.292683/24 (PRJEB36033)
G=0.320519/4152 (GoESP)
G=0.320546/44847 (GnomAD)
G=0.328704/71 (Qatari)
G=0.335506/88805 (TOPMED)
G=0.376404/201 (MGP)
G=0.378505/81 (Vietnamese)
G=0.383843/30157 (PAGE_STUDY)
G=0.38648/303 (PRJEB37584)
G=0.395767/748 (HapMap)
G=0.400375/2005 (1000Genomes)
G=0.41976/769 (Korea1K)
G=0.431741/1265 (KOREAN)
G=0.439345/7363 (TOMMO)
HGVS:: NC_000002.12:g.25244019G>C, NC_000002.12:g.25244019G>T, NC_000002.11:g.25466888G>C, NC_000002.11:g.25466888G>T, NG_029465.2:g.103572C>G, NG_029465.2:g.103572C>A

Select item 22891956.

rs2289195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:25240614 (GRCh38)
2:25463483 (GRCh37)
Canonical SPDI:: NC_000002.12:25240613:G:A
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.413021/19730 (ALFA)
A=0.136612/75 (Vietnamese)
A=0.228219/3825 (TOMMO)
A=0.237991/436 (Korea1K)
A=0.256997/753 (KOREAN)
A=0.280612/220 (PRJEB37584)
G=0.34375/11 (Siberian)
G=0.358065/111 (SGDP_PRJ)
A=0.363991/1823 (1000Genomes)
A=0.374603/708 (HapMap)
A=0.400749/214 (MGP)
A=0.400755/1486 (TWINSUK)
A=0.401199/5218 (GoESP)
A=0.406083/49236 (ExAC)
A=0.406331/1566 (ALSPAC)
A=0.41093/102680 (GnomAD_exomes)
A=0.413918/109560 (TOPMED)
A=0.415321/58164 (GnomAD)
A=0.416667/250 (NorthernSweden)
A=0.417836/417 (GoNL)
A=0.425/17 (GENOME_DK)
A=0.463816/141 (FINRISK)
A=0.472222/34 (PRJEB36033)
G=0.476852/103 (Qatari)
A=0.479911/2150 (Estonian)
HGVS:: NC_000002.12:g.25240614G>A, NC_000002.11:g.25463483G>A, NG_029465.2:g.106977C>T

PubMed LitVar

Select item 23044297.

rs2304429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:25235677 (GRCh38)
2:25458546 (GRCh37)
Canonical SPDI:: NC_000002.12:25235676:C:A,NC_000002.12:25235676:C:T
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.443974/137021 (ALFA)
T=0.247878/146 (Vietnamese)
T=0.293893/231 (PRJEB37584)
T=0.294539/863 (KOREAN)
T=0.300218/550 (Korea1K)
C=0.309524/13 (Siberian)
C=0.328947/100 (SGDP_PRJ)
T=0.332275/628 (HapMap)
T=0.357277/1789 (1000Genomes)
T=0.360298/28354 (PAGE_STUDY)
T=0.36556/6127 (TOMMO)
C=0.383333/230 (NorthernSweden)
C=0.4/16 (GENOME_DK)
C=0.4/1792 (Estonian)
C=0.401804/401 (GoNL)
C=0.409655/1519 (TWINSUK)
C=0.413596/1594 (ALSPAC)
C=0.424342/129 (FINRISK)
T=0.434678/905 (HGDP_Stanford)
C=0.436833/89584 (GENOGRAPHIC)
T=0.438551/116080 (TOPMED)
C=0.44/44 (PRJEB36033)
T=0.452455/63350 (GnomAD)
T=0.455636/5926 (GoESP)
C=0.481481/104 (Qatari)
C=0.485019/259 (MGP)
C=0.486224/121030 (GnomAD_exomes)
C=0.490232/59222 (ExAC)
HGVS:: NC_000002.12:g.25235677C>A, NC_000002.12:g.25235677C>T, NC_000002.11:g.25458546C>A, NC_000002.11:g.25458546C>T, NG_029465.2:g.111914G>T, NG_029465.2:g.111914G>A

PubMed LitVar

Select item 32167078.

rs3216707 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:25248301 (GRCh38)
2:25471170 (GRCh37)
Canonical SPDI:: NC_000002.12:25248300:C:
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.061802/1561 (ALFA)
-=0.016172/271 (TOMMO)
-=0.022926/42 (Korea1K)
-=0.025/1 (GENOME_DK)
-=0.028037/6 (Vietnamese)
-=0.06/36 (NorthernSweden)
-=0.074554/334 (Estonian)
-=0.076763/17365 (GnomAD_exomes)
-=0.07827/8625 (ExAC)
-=0.080106/401 (1000Genomes)
-=0.08016/80 (GoNL)
-=0.096523/372 (ALSPAC)
-=0.098829/13854 (GnomAD)
-=0.09921/26260 (TOPMED)
-=0.100324/372 (TWINSUK)
-=0.105238/1306 (GoESP)
HGVS:: NC_000002.12:g.25248301del, NC_000002.11:g.25471170del, NG_029465.2:g.99290del

Select item 75801439.

rs7580143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:25300477 (GRCh38)
2:25523346 (GRCh37)
Canonical SPDI:: NC_000002.12:25300476:C:G
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00957/138 (ALFA)
G=0.013207/1825 (GnomAD)
G=0.014538/3848 (TOPMED)
G=0.014991/75 (1000Genomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000002.12:g.25300477C>G, NC_000002.11:g.25523346C>G, NG_029465.2:g.47114G>C

Select item 758622010.

rs7586220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25283011 (GRCh38)
2:25505880 (GRCh37)
Canonical SPDI:: NC_000002.12:25283010:C:T
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.008904/155 (ALFA)
T=0.00463/1 (Qatari)
T=0.007284/1021 (GnomAD)
T=0.00739/1956 (TOPMED)
T=0.009838/49 (1000Genomes)
T=0.026104/26 (HapMap)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000002.12:g.25283011C>T, NC_000002.11:g.25505880C>T, NG_029465.2:g.64580G>A

Select item 759638711.

rs7596387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:25300327 (GRCh38)
2:25523196 (GRCh37)
Canonical SPDI:: NC_000002.12:25300326:T:C
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.115034/2173 (ALFA)
C=0.001873/1 (MGP)
C=0.025/1 (GENOME_DK)
C=0.037037/8 (Qatari)
C=0.106652/534 (1000Genomes)
C=0.110048/322 (KOREAN)
C=0.115486/30568 (TOPMED)
C=0.12/72 (NorthernSweden)
C=0.120267/216 (Korea1K)
C=0.121414/16980 (GnomAD)
C=0.127232/570 (Estonian)
C=0.132918/2228 (TOMMO)
T=0.416667/40 (SGDP_PRJ)
T=0.5/6 (Siberian)
HGVS:: NC_000002.12:g.25300327T>C, NC_000002.11:g.25523196T>C, NG_029465.2:g.47264A>G

Select item 1008423812.

rs10084238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:25235510 (GRCh38)
2:25458379 (GRCh37)
Canonical SPDI:: NC_000002.12:25235509:G:A
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.439604/62182 (ALFA)
A=0.230769/48 (Vietnamese)
A=0.281911/826 (KOREAN)
A=0.289847/531 (Korea1K)
G=0.309524/13 (Siberian)
A=0.311452/5220 (TOMMO)
G=0.322785/102 (SGDP_PRJ)
A=0.324074/105 (HapMap)
A=0.359619/1801 (1000Genomes)
G=0.381667/229 (NorthernSweden)
G=0.39479/394 (GoNL)
G=0.398839/1786 (Estonian)
G=0.4/16 (GENOME_DK)
G=0.406958/1509 (TWINSUK)
G=0.408147/1573 (ALSPAC)
A=0.444437/117638 (TOPMED)
A=0.458385/64150 (GnomAD)
G=0.481481/104 (Qatari)
HGVS:: NC_000002.12:g.25235510G>A, NC_000002.11:g.25458379G>A, NG_029465.2:g.112081C>T

Select item 1168144713.

rs11681447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25249915 (GRCh38)
2:25472784 (GRCh37)
Canonical SPDI:: NC_000002.12:25249914:C:T
Gene:: DNMT3A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.295128/8008 (ALFA)
C=0.175/7 (GENOME_DK)
C=0.188333/113 (NorthernSweden)
C=0.196652/881 (Estonian)
C=0.218437/218 (GoNL)
C=0.242553/114 (SGDP_PRJ)
C=0.256357/988 (ALSPAC)
C=0.26/13 (Siberian)
C=0.260248/965 (TWINSUK)
C=0.31971/44753 (GnomAD)
C=0.328704/71 (Qatari)
C=0.334561/88555 (TOPMED)
C=0.396076/747 (HapMap)
C=0.399126/1999 (1000Genomes)
C=0.420852/771 (Korea1K)
C=0.433106/1269 (KOREAN)
C=0.440265/7379 (TOMMO)
C=0.456929/244 (MGP)
HGVS:: NC_000002.12:g.25249915C>T, NC_000002.11:g.25472784C>T, NG_029465.2:g.97676G>A

Select item 1704694214.

rs17046942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:25237258 (GRCh38)
2:25460127 (GRCh37)
Canonical SPDI:: NC_000002.12:25237257:G:A,NC_000002.12:25237257:G:T
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000976/14 (ALFA)
A=0.005557/1471 (TOPMED)
A=0.006135/2 (HapMap)
A=0.006246/31 (1000Genomes)
HGVS:: NC_000002.12:g.25237258G>A, NC_000002.12:g.25237258G>T, NC_000002.11:g.25460127G>A, NC_000002.11:g.25460127G>T, NG_029465.2:g.110333C>T, NG_029465.2:g.110333C>A

Select item 4128484315.

rs41284843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:25313958 (GRCh38)
2:25536827 (GRCh37)
Canonical SPDI:: NC_000002.12:25313957:G:A,NC_000002.12:25313957:G:C
Gene:: DNMT3A (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.080052/3782 (ALFA)
A=0.041199/22 (MGP)
A=0.074317/136 (Korea1K)
A=0.076558/936 (GoESP)
A=0.078947/231 (KOREAN)
A=0.082367/11551 (GnomAD)
A=0.083297/22048 (TOPMED)
A=0.090881/455 (1000Genomes)
A=0.094188/94 (GoNL)
A=0.096429/432 (Estonian)
A=0.096667/58 (NorthernSweden)
A=0.100156/386 (ALSPAC)
A=0.101402/376 (TWINSUK)
A=0.107794/65 (Vietnamese)
A=0.115153/1930 (TOMMO)
A=0.12037/26 (Qatari)
A=0.125/5 (GENOME_DK)
A=0.154975/2523 (ExAC)
G=0.4625/37 (SGDP_PRJ)
G=0.5/5 (Siberian)
HGVS:: NC_000002.12:g.25313958G>A, NC_000002.12:g.25313958G>C, NC_000002.11:g.25536827G>A, NC_000002.11:g.25536827G>C, NG_029465.2:g.33633C>T, NG_029465.2:g.33633C>G, NM_022552.5:c.27C>T, NM_022552.5:c.27C>G, NM_022552.4:c.27C>T, NM_022552.4:c.27C>G, NR_135490.2:n.258C>T, NR_135490.2:n.258C>G, NR_135490.1:n.365C>T, NR_135490.1:n.365C>G, NM_175629.2:c.27C>T, NM_175629.2:c.27C>G, NM_001320892.2:c.27C>T, NM_001320892.2:c.27C>G, NM_001320892.1:c.27C>T, NM_001320892.1:c.27C>G, NM_175630.1:c.27C>T, NM_175630.1:c.27C>G, XM_005264175.6:c.27C>T, XM_005264175.6:c.27C>G, XM_005264175.5:c.27C>T, XM_005264175.5:c.27C>G, XM_005264175.4:c.27C>T, XM_005264175.4:c.27C>G, XM_005264175.3:c.27C>T, XM_005264175.3:c.27C>G, XM_005264175.2:c.27C>T, XM_005264175.2:c.27C>G, XM_005264175.1:c.27C>T, XM_005264175.1:c.27C>G, XM_011532664.3:c.27C>T, XM_011532664.3:c.27C>G, XM_011532664.2:c.27C>T, XM_011532664.2:c.27C>G, XM_011532664.1:c.27C>T, XM_011532664.1:c.27C>G, XM_017003526.2:c.27C>T, XM_017003526.2:c.27C>G, XM_017003526.1:c.27C>T, XM_017003526.1:c.27C>G, XM_047443593.1:c.27C>T, XM_047443593.1:c.27C>G

LitVar

Select item 5589649316.

rs55896493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:25275696 (GRCh38)
2:25498565 (GRCh37)
Canonical SPDI:: NC_000002.12:25275695:C:A,NC_000002.12:25275695:C:G,NC_000002.12:25275695:C:T
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01049/181 (ALFA)
G=0.018519/4 (Qatari)
G=0.027028/2127 (PAGE_STUDY)
G=0.027327/137 (1000Genomes)
G=0.029963/16 (MGP)
G=0.034821/156 (Estonian)
G=0.04/24 (NorthernSweden)
G=0.046442/6510 (GnomAD)
G=0.047818/12657 (TOPMED)
G=0.05/2 (GENOME_DK)
G=0.074148/74 (GoNL)
G=0.081985/304 (TWINSUK)
G=0.084328/325 (ALSPAC)
C=0.5/1 (Siberian)
C=0.5/7 (SGDP_PRJ)
HGVS:: NC_000002.12:g.25275696C>A, NC_000002.12:g.25275696C>G, NC_000002.12:g.25275696C>T, NC_000002.11:g.25498565C>A, NC_000002.11:g.25498565C>G, NC_000002.11:g.25498565C>T, NG_029465.2:g.71895G>T, NG_029465.2:g.71895G>C, NG_029465.2:g.71895G>A

Select item 6175843217.

rs61758432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:25234321 (GRCh38)
2:25457190 (GRCh37)
Canonical SPDI:: NC_000002.12:25234320:G:A
Gene:: DNMT3A (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000473/21 (ALFA)
A=0.000128/18 (GnomAD)
A=0.000136/36 (TOPMED)
A=0.00019/23 (ExAC)
A=0.000231/3 (GoESP)
A=0.000263/66 (GnomAD_exomes)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.25234321G>A, NC_000002.11:g.25457190G>A, NG_029465.2:g.113270C>T, NM_022552.5:c.2697C>T, NM_022552.4:c.2697C>T, NM_153759.3:c.2130C>T, NR_135490.2:n.3127C>T, NR_135490.1:n.3234C>T, NM_175629.2:c.2697C>T, NM_001320893.1:c.2241C>T, NM_001375819.1:c.2028C>T, XM_005264175.6:c.2697C>T, XM_005264175.5:c.2697C>T, XM_005264175.4:c.2697C>T, XM_005264175.3:c.2697C>T, XM_005264175.2:c.2697C>T, XM_005264175.1:c.2697C>T, XM_011532667.4:c.2028C>T, XM_011532667.3:c.2028C>T, XM_011532667.2:c.2028C>T, XM_011532667.1:c.2028C>T, XM_011532662.3:c.2550C>T, XM_011532662.2:c.2550C>T, XM_011532662.1:c.2550C>T, XM_011532666.3:c.2169C>T, XM_011532666.2:c.2169C>T, XM_011532666.1:c.2169C>T, XM_017003526.2:c.2697C>T, XM_017003526.1:c.2697C>T, XM_017003527.2:c.2028C>T, XM_017003527.1:c.2028C>T, XM_047443594.1:c.2217C>T, XM_047443592.1:c.2400C>T, XM_047443598.1:c.2028C>T, XM_047443597.1:c.2028C>T, XM_047443596.1:c.2028C>T

Select item 7281004618.

rs72810046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:25239458 (GRCh38)
2:25462327 (GRCh37)
Canonical SPDI:: NC_000002.12:25239457:C:G,NC_000002.12:25239457:C:T
Gene:: DNMT3A (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.138416/3887 (ALFA)
G=0.000342/1 (KOREAN)
G=0.087963/19 (Qatari)
G=0.088851/445 (1000Genomes)
G=0.091581/1351 (ExAC)
G=0.106742/57 (MGP)
G=0.11/66 (NorthernSweden)
G=0.114347/424 (TWINSUK)
G=0.123508/476 (ALSPAC)
G=0.124512/32957 (TOPMED)
G=0.134126/18798 (GnomAD)
G=0.136273/136 (GoNL)
G=0.15/6 (GENOME_DK)
G=0.170536/764 (Estonian)
C=0.466667/28 (SGDP_PRJ)
C=0.5/2 (Siberian)
HGVS:: NC_000002.12:g.25239458C>G, NC_000002.12:g.25239458C>T, NC_000002.11:g.25462327C>G, NC_000002.11:g.25462327C>T, NG_029465.2:g.108133G>C, NG_029465.2:g.108133G>A, NR_135490.2:n.2609G>C, NR_135490.2:n.2609G>A, NR_135490.1:n.2716G>C, NR_135490.1:n.2716G>A, XM_011532664.3:c.*32G>C, XM_011532664.3:c.*32G>A, XM_011532664.2:c.*32G>C, XM_011532664.2:c.*32G>A, XM_011532664.1:c.*32G>C, XM_011532664.1:c.*32G>A, XM_047443599.1:c.*32G>C, XM_047443599.1:c.*32G>A

Select item 7281006819.

rs72810068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:25282924 (GRCh38)
2:25505793 (GRCh37)
Canonical SPDI:: NC_000002.12:25282923:T:C
Gene:: DNMT3A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.306744/9460 (ALFA)
C=0.194069/3253 (TOMMO)
C=0.225/9 (GENOME_DK)
C=0.237445/435 (Korea1K)
C=0.245722/718 (KOREAN)
C=0.252381/53 (Vietnamese)
C=0.261711/1311 (1000Genomes)
C=0.280895/74350 (TOPMED)
C=0.287037/62 (Qatari)
C=0.287785/40291 (GnomAD)
C=0.300601/300 (GoNL)
C=0.308333/185 (NorthernSweden)
C=0.309152/1385 (Estonian)
C=0.313916/1164 (TWINSUK)
C=0.319668/1232 (ALSPAC)
T=0.415929/94 (SGDP_PRJ)
T=0.46875/15 (Siberian)
HGVS:: NC_000002.12:g.25282924T>C, NC_000002.11:g.25505793T>C, NG_029465.2:g.64667A>G

Select item 7519532420.

rs75195324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25313751 (GRCh38)
2:25536620 (GRCh37)
Canonical SPDI:: NC_000002.12:25313750:C:T
Gene:: DNMT3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.004377/66 (ALFA)
T=0.004528/23 (1000Genomes)
T=0.006273/880 (GnomAD)
T=0.00629/1665 (TOPMED)
T=0.00892/702 (PAGE_STUDY)
HGVS:: NC_000002.12:g.25313751C>T, NC_000002.11:g.25536620C>T, NG_029465.2:g.33840G>A

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