MIR548AD - SNP

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Select item 27145721.

rs2714572 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:35470747 (GRCh38)
2:35695813 (GRCh37)
Canonical SPDI:: NC_000002.12:35470746:T:A,NC_000002.12:35470746:T:C
Gene:: MIR548AD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.197515/5850 (ALFA)
T=0.107143/6 (Siberian)
T=0.166667/36 (Vietnamese)
T=0.172098/771 (Estonian)
T=0.175/7 (GENOME_DK)
T=0.175351/175 (GoNL)
T=0.186275/95 (SGDP_PRJ)
T=0.187433/695 (TWINSUK)
T=0.191489/738 (ALSPAC)
T=0.2/120 (NorthernSweden)
T=0.200191/3355 (TOMMO)
T=0.22107/405 (Korea1K)
T=0.224573/658 (KOREAN)
T=0.226381/31682 (GnomAD)
T=0.228267/60420 (TOPMED)
T=0.238601/1195 (1000Genomes)
T=0.282407/61 (Qatari)
HGVS:: NC_000002.12:g.35470747T>A, NC_000002.12:g.35470747T>C, NC_000002.11:g.35695813T>A, NC_000002.11:g.35695813T>C

Select item 27190972.

rs2719097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:35469774 (GRCh38)
2:35694840 (GRCh37)
Canonical SPDI:: NC_000002.12:35469773:T:C,NC_000002.12:35469773:T:G
Gene:: MIR548AD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.486221/4411 (ALFA)
C=0.201925/3384 (TOMMO)
C=0.219454/643 (KOREAN)
C=0.231481/50 (Vietnamese)
C=0.240721/441 (Korea1K)
T=0.3/12 (GENOME_DK)
T=0.320641/320 (GoNL)
T=0.337017/122 (SGDP_PRJ)
T=0.337379/1251 (TWINSUK)
T=0.34302/1322 (ALSPAC)
T=0.384259/83 (Qatari)
T=0.384375/1722 (Estonian)
T=0.404762/17 (Siberian)
T=0.416667/250 (NorthernSweden)
T=0.442703/117179 (TOPMED)
C=0.45253/2266 (1000Genomes)
HGVS:: NC_000002.12:g.35469774T>C, NC_000002.12:g.35469774T>G, NC_000002.11:g.35694840T>C, NC_000002.11:g.35694840T>G

Select item 27190983.

rs2719098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:35469907 (GRCh38)
2:35694973 (GRCh37)
Canonical SPDI:: NC_000002.12:35469906:C:A,NC_000002.12:35469906:C:G,NC_000002.12:35469906:C:T
Gene:: MIR548AD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.224812/5739 (ALFA)
T=0.001638/3 (Korea1K)
T=0.002396/7 (KOREAN)
T=0.03271/7 (Vietnamese)
T=0.155684/780 (1000Genomes)
T=0.23543/62316 (TOPMED)
T=0.25/10 (GENOME_DK)
T=0.280804/1258 (Estonian)
T=0.296296/64 (Qatari)
T=0.303333/182 (NorthernSweden)
T=0.314997/1214 (ALSPAC)
T=0.321737/1193 (TWINSUK)
T=0.332665/332 (GoNL)
C=0.40625/52 (SGDP_PRJ)
C=0.5/7 (Siberian)
HGVS:: NC_000002.12:g.35469907C>A, NC_000002.12:g.35469907C>G, NC_000002.12:g.35469907C>T, NC_000002.11:g.35694973C>A, NC_000002.11:g.35694973C>G, NC_000002.11:g.35694973C>T

Select item 44011914.

rs4401191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:35471109 (GRCh38)
2:35696175 (GRCh37)
Canonical SPDI:: NC_000002.12:35471108:T:C
Gene:: MIR548AD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.35471109T>C, NC_000002.11:g.35696175T>C

Select item 46704725.

rs4670472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:35471546 (GRCh38)
2:35696612 (GRCh37)
Canonical SPDI:: NC_000002.12:35471545:C:A,NC_000002.12:35471545:C:G,NC_000002.12:35471545:C:T
Gene:: MIR548AD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.031234/620 (ALFA)
G=0./0 (KOREAN)
C=0.00501/5 (GoNL)
C=0.013215/49 (TWINSUK)
C=0.018973/85 (Estonian)
C=0.019979/77 (ALSPAC)
C=0.02/12 (NorthernSweden)
C=0.025/1 (GENOME_DK)
C=0.037315/5234 (GnomAD)
C=0.047217/12498 (TOPMED)
C=0.060185/13 (Qatari)
C=0.080574/6341 (PAGE_STUDY)
C=0.09375/51 (SGDP_PRJ)
C=0.095565/479 (1000Genomes)
C=0.107143/6 (Siberian)
C=0.175561/2942 (TOMMO)
C=0.191594/351 (Korea1K)
C=0.214953/46 (Vietnamese)
HGVS:: NC_000002.12:g.35471546C>A, NC_000002.12:g.35471546C>G, NC_000002.12:g.35471546C>T, NC_000002.11:g.35696612C>A, NC_000002.11:g.35696612C>G, NC_000002.11:g.35696612C>T, NG_043901.1:g.42C>A, NG_043901.1:g.42C>G, NG_043901.1:g.42C>T

Select item 116920396.

rs11692039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:35469797 (GRCh38)
2:35694863 (GRCh37)
Canonical SPDI:: NC_000002.12:35469796:C:A,NC_000002.12:35469796:C:T
Gene:: MIR548AD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.021116/265 (ALFA)
A=0.000035/1 (TOMMO)
A=0.033417/167 (1000Genomes)
A=0.075436/10550 (GnomAD)
A=0.089102/399 (Estonian)
A=0.092593/20 (Qatari)
A=0.1/4 (GENOME_DK)
A=0.104048/401 (ALSPAC)
A=0.11219/416 (TWINSUK)
A=0.119238/119 (GoNL)
A=0.123333/74 (NorthernSweden)
C=0.470588/16 (SGDP_PRJ)
C=0.5/1 (Siberian)
HGVS:: NC_000002.12:g.35469797C>A, NC_000002.12:g.35469797C>T, NC_000002.11:g.35694863C>A, NC_000002.11:g.35694863C>T

Select item 349302747.

rs34930274 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:35471600 (GRCh38)
2:35696667 (GRCh37)
Canonical SPDI:: NC_000002.12:35471600:TTT:TTTT
Gene:: MIR548AD (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000002.12:g.35471603dup, NC_000002.11:g.35696669dup, NG_043901.1:g.99dup

Select item 360175218.

rs36017521 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:35469630 (GRCh38)
2:35694696 (GRCh37)
Canonical SPDI:: NC_000002.12:35469629:C:
Gene:: MIR548AD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003586/66 (ALFA)
-=0.002342/12 (1000Genomes)
-=0.003333/2 (NorthernSweden)
-=0.004508/632 (GnomAD)
-=0.004586/1214 (TOPMED)
-=0.00501/5 (GoNL)
-=0.008303/32 (ALSPAC)
-=0.00863/32 (TWINSUK)
-=0.010714/48 (Estonian)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000002.12:g.35469630del, NC_000002.11:g.35694696del

Select item 621432999.

rs62143299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:35470543 (GRCh38)
2:35695609 (GRCh37)
Canonical SPDI:: NC_000002.12:35470542:C:A,NC_000002.12:35470542:C:T
Gene:: MIR548AD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.024663/436 (ALFA)
A=0.000035/1 (TOMMO)
A=0.023111/116 (1000Genomes)
A=0.041964/188 (Estonian)
A=0.05/2 (GENOME_DK)
A=0.051601/7232 (GnomAD)
A=0.071197/264 (TWINSUK)
A=0.076025/293 (ALSPAC)
A=0.076667/46 (NorthernSweden)
A=0.091182/91 (GoNL)
A=0.092593/20 (Qatari)
C=0.464286/13 (SGDP_PRJ)
C=0.5/1 (Siberian)
HGVS:: NC_000002.12:g.35470543C>A, NC_000002.12:g.35470543C>T, NC_000002.11:g.35695609C>A, NC_000002.11:g.35695609C>T

Select item 6214330010.

rs62143300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:35470788 (GRCh38)
2:35695854 (GRCh37)
Canonical SPDI:: NC_000002.12:35470787:G:A,NC_000002.12:35470787:G:T
Gene:: MIR548AD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.044971/769 (ALFA)
T=0.000035/1 (TOMMO)
T=0.039038/196 (1000Genomes)
T=0.075587/20007 (TOPMED)
T=0.091071/408 (Estonian)
T=0.097222/21 (Qatari)
T=0.1/4 (GENOME_DK)
T=0.10768/415 (ALSPAC)
T=0.114887/426 (TWINSUK)
T=0.123333/74 (NorthernSweden)
T=0.127255/127 (GoNL)
G=0.477273/21 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000002.12:g.35470788G>A, NC_000002.12:g.35470788G>T, NC_000002.11:g.35695854G>A, NC_000002.11:g.35695854G>T

Select item 6214330111.

rs62143301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:35471453 (GRCh38)
2:35696519 (GRCh37)
Canonical SPDI:: NC_000002.12:35471452:G:A
Gene:: MIR548AD (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.087983/1662 (ALFA)
A=0.000035/1 (TOMMO)
A=0.035447/178 (1000Genomes)
A=0.072447/19176 (TOPMED)
A=0.077114/10807 (GnomAD)
A=0.089732/402 (Estonian)
A=0.1/4 (GENOME_DK)
A=0.105086/405 (ALSPAC)
A=0.106481/23 (Qatari)
A=0.113095/38 (GnomAD_exomes)
A=0.113538/421 (TWINSUK)
A=0.119238/119 (GoNL)
A=0.123333/74 (NorthernSweden)
A=0.25/1 (ExAC)
G=0.472222/17 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000002.12:g.35471453G>A, NC_000002.11:g.35696519G>A, NR_039629.1:n.49G>A

Select item 6708920712.

rs67089207 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 2:35470678 (GRCh38)
2:35695744 (GRCh37)
Canonical SPDI:: NC_000002.12:35470669:TTTTTTTTTT:TTTTTTTT,NC_000002.12:35470669:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:35470669:TTTTTTTTTT:TTTTTTTTTTT
Gene:: MIR548AD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.252474/1837 (ALFA)
T=0.175/7 (GENOME_DK)
T=0.175223/785 (Estonian)
T=0.183367/183 (GoNL)
T=0.186354/691 (TWINSUK)
T=0.189673/731 (ALSPAC)
T=0.191589/41 (Vietnamese)
T=0.197076/3303 (TOMMO)
T=0.2/120 (NorthernSweden)
T=0.222162/407 (Korea1K)
T=0.234002/61938 (TOPMED)
T=0.246206/1233 (1000Genomes)
HGVS:: NC_000002.12:g.35470678_35470679del, NC_000002.12:g.35470679del, NC_000002.12:g.35470679dup, NC_000002.11:g.35695744_35695745del, NC_000002.11:g.35695745del, NC_000002.11:g.35695745dup

Select item 7587746013.

rs75877460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:35469863 (GRCh38)
2:35694929 (GRCh37)
Canonical SPDI:: NC_000002.12:35469862:A:C
Gene:: MIR548AD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.076751/1508 (ALFA)
C=0.041667/9 (Qatari)
C=0.070576/272 (ALSPAC)
C=0.073085/271 (TWINSUK)
C=0.073146/73 (GoNL)
C=0.075/3 (GENOME_DK)
C=0.076339/342 (Estonian)
C=0.083155/11657 (GnomAD)
C=0.105709/27980 (TOPMED)
C=0.108333/65 (NorthernSweden)
C=0.179884/14150 (PAGE_STUDY)
C=0.21346/1069 (1000Genomes)
A=0.353982/80 (SGDP_PRJ)
A=0.4/12 (Siberian)
A=0.406292/6809 (TOMMO)
A=0.446075/1307 (KOREAN)
A=0.465066/852 (Korea1K)
HGVS:: NC_000002.12:g.35469863A>C, NC_000002.11:g.35694929A>C

Select item 7701171714.

rs77011717 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:35469564 (GRCh38)
2:35694630 (GRCh37)
Canonical SPDI:: NC_000002.12:35469563:T:C
Gene:: MIR548AD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000902/13 (ALFA)
C=0.001412/198 (GnomAD)
C=0.00147/389 (TOPMED)
C=0.002186/11 (1000Genomes)
HGVS:: NC_000002.12:g.35469564T>C, NC_000002.11:g.35694630T>C

Select item 7726872715.

rs77268727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:35471598 (GRCh38)
2:35696664 (GRCh37)
Canonical SPDI:: NC_000002.12:35471597:T:A,NC_000002.12:35471597:T:G
Gene:: MIR548AD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.35471598T>A, NC_000002.12:g.35471598T>G, NC_000002.11:g.35696664T>A, NC_000002.11:g.35696664T>G, NG_043901.1:g.94T>A, NG_043901.1:g.94T>G

Select item 7973841116.

rs79738411 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:35471596 (GRCh38)
2:35696662 (GRCh37)
Canonical SPDI:: NC_000002.12:35471595:A:T
Gene:: MIR548AD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000002.12:g.35471596A>T, NC_000002.11:g.35696662A>T, NG_043901.1:g.92A>T

Select item 11188624017.

rs111886240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:35470243 (GRCh38)
2:35695309 (GRCh37)
Canonical SPDI:: NC_000002.12:35470242:T:A
Gene:: MIR548AD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000449/63 (GnomAD)
A=0.000468/2 (1000Genomes)
A=0.000567/150 (TOPMED)
A=0.00463/1 (Qatari)
HGVS:: NC_000002.12:g.35470243T>A, NC_000002.11:g.35695309T>A

Select item 11375926918.

rs113759269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:35470382 (GRCh38)
2:35695448 (GRCh37)
Canonical SPDI:: NC_000002.12:35470381:G:T
Gene:: MIR548AD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000002.12:g.35470382G>T, NC_000002.11:g.35695448G>T

Select item 11581887019.

rs115818870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:35471466 (GRCh38)
2:35696532 (GRCh37)
Canonical SPDI:: NC_000002.12:35471465:A:G
Gene:: MIR548AD (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.003467/50 (ALFA)
G=0./0 (ExAC)
G=0.00463/1 (Qatari)
G=0.006239/875 (GnomAD)
G=0.006593/1745 (TOPMED)
G=0.007964/40 (1000Genomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.35471466A>G, NC_000002.11:g.35696532A>G, NR_039629.1:n.62A>G

Select item 11587636920.

rs115876369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:35470487 (GRCh38)
2:35695553 (GRCh37)
Canonical SPDI:: NC_000002.12:35470486:C:T
Gene:: MIR548AD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000485/7 (ALFA)
T=0.000264/37 (GnomAD)
T=0.00031/82 (TOPMED)
T=0.000519/2 (ALSPAC)
T=0.000781/4 (1000Genomes)
T=0.000809/3 (TWINSUK)
T=0.002004/2 (GoNL)
HGVS:: NC_000002.12:g.35470487C>T, NC_000002.11:g.35695553C>T

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