SF3B6 - SNP

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Items: 1 to 20 of 4149

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Select item 412814791.

rs41281479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:24068453 (GRCh38)
2:24291323 (GRCh37)
Canonical SPDI:: NC_000002.12:24068452:G:A,NC_000002.12:24068452:G:T
Gene:: SF3B6 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006088/441 (ALFA)
A=0.001093/5 (1000Genomes)
A=0.001116/5 (Estonian)
A=0.003289/1 (FINRISK)
A=0.003412/903 (TOPMED)
A=0.003608/506 (GnomAD)
A=0.00493/19 (ALSPAC)
A=0.005613/73 (GoESP)
A=0.00863/32 (TWINSUK)
A=0.009018/9 (GoNL)
A=0.018333/11 (NorthernSweden)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.24068453G>A, NC_000002.12:g.24068453G>T, NC_000002.11:g.24291323G>A, NC_000002.11:g.24291323G>T, NM_016047.4:c.156C>T, NM_016047.4:c.156C>A, NM_016047.3:c.156C>T, NM_016047.3:c.156C>A, NP_057131.1:p.Asn52Lys

Select item 763542602.

rs76354260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24067780 (GRCh38)
2:24290650 (GRCh37)
Canonical SPDI:: NC_000002.12:24067779:G:A
Gene:: SF3B6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000732/33 (ALFA)
A=0.000617/155 (GnomAD_exomes)
A=0.0007/85 (ExAC)
A=0.002153/28 (GoESP)
A=0.002189/307 (GnomAD)
A=0.002391/633 (TOPMED)
A=0.00406/20 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.24067780G>A, NC_000002.11:g.24290650G>A, NM_016047.4:c.360C>T, NM_016047.3:c.360C>T

Select item 7368433.

rs736843 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:24073472 (GRCh38)
2:24296342 (GRCh37)
Canonical SPDI:: NC_000002.12:24073471:T:G
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.24073472T>G, NC_000002.11:g.24296342T>G

Select item 7368444.

rs736844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24073096 (GRCh38)
2:24295966 (GRCh37)
Canonical SPDI:: NC_000002.12:24073095:C:T
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.24073096C>T, NC_000002.11:g.24295966C>T

Select item 12477095.

rs1247709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24071270 (GRCh38)
2:24294140 (GRCh37)
Canonical SPDI:: NC_000002.12:24071269:C:T
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001595/23 (ALFA)
T=0.002186/11 (1000Genomes)
T=0.002609/366 (GnomAD)
T=0.002773/734 (TOPMED)
HGVS:: NC_000002.12:g.24071270C>T, NC_000002.11:g.24294140C>T

Select item 19710746.

rs1971074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24068254 (GRCh38)
2:24291124 (GRCh37)
Canonical SPDI:: NC_000002.12:24068253:C:T
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.075172/1420 (ALFA)
T=0.002729/5 (Korea1K)
T=0.00463/1 (Vietnamese)
T=0.005476/16 (KOREAN)
T=0.006667/4 (NorthernSweden)
T=0.009363/5 (MGP)
T=0.015642/58 (TWINSUK)
T=0.018422/71 (ALSPAC)
T=0.022991/103 (Estonian)
T=0.023046/23 (GoNL)
T=0.030469/511 (TOMMO)
T=0.097222/21 (Qatari)
T=0.118479/16606 (GnomAD)
T=0.124289/32898 (TOPMED)
T=0.12742/638 (1000Genomes)
C=0.405405/30 (SGDP_PRJ)
HGVS:: NC_000002.12:g.24068254C>T, NC_000002.11:g.24291124C>T

Select item 30309197.

rs3030919 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:24075592 (GRCh38)
2:24298462 (GRCh37)
Canonical SPDI:: NC_000002.12:24075582:TTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:24075582:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:24075582:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:24075582:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:24075582:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: SF3B6 (Varview), FAM228B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00502/3 (NorthernSweden)
-=0.01564/58 (TWINSUK)
-=0.01687/65 (ALSPAC)
-=0.09724/487 (1000Genomes)
HGVS:: NC_000002.12:g.24075592_24075594del, NC_000002.12:g.24075593_24075594del, NC_000002.12:g.24075594del, NC_000002.12:g.24075594dup, NC_000002.12:g.24075593_24075594dup, NC_000002.11:g.24298462_24298464del, NC_000002.11:g.24298463_24298464del, NC_000002.11:g.24298464del, NC_000002.11:g.24298464dup, NC_000002.11:g.24298463_24298464dup, NG_029715.1:g.14631_14633del, NG_029715.1:g.14632_14633del, NG_029715.1:g.14633del, NG_029715.1:g.14633dup, NG_029715.1:g.14632_14633dup

Select item 37696658.

rs3769665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:24073736 (GRCh38)
2:24296606 (GRCh37)
Canonical SPDI:: NC_000002.12:24073735:C:G,NC_000002.12:24073735:C:T
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.04503/704 (ALFA)
T=0.024807/416 (TOMMO)
T=0.037543/110 (KOREAN)
T=0.070122/23 (HapMap)
T=0.083333/18 (Qatari)
T=0.094785/475 (1000Genomes)
T=0.1/4 (GENOME_DK)
T=0.102554/27145 (TOPMED)
T=0.131811/508 (ALSPAC)
T=0.134269/134 (GoNL)
T=0.143204/531 (TWINSUK)
T=0.145982/654 (Estonian)
T=0.151667/91 (NorthernSweden)
C=0.444444/8 (Siberian)
C=0.47619/40 (SGDP_PRJ)
HGVS:: NC_000002.12:g.24073736C>G, NC_000002.12:g.24073736C>T, NC_000002.11:g.24296606C>G, NC_000002.11:g.24296606C>T

Select item 37696669.

rs3769666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:24073563 (GRCh38)
2:24296433 (GRCh37)
Canonical SPDI:: NC_000002.12:24073562:G:C
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000763/11 (ALFA)
C=0.00174/244 (GnomAD)
C=0.002365/626 (TOPMED)
C=0.01218/61 (1000Genomes)
C=0.038755/71 (Korea1K)
C=0.04141/121 (KOREAN)
C=0.05018/841 (TOMMO)
C=0.060185/13 (Vietnamese)
G=0.5/4 (SGDP_PRJ)
HGVS:: NC_000002.12:g.24073563G>C, NC_000002.11:g.24296433G>C

Select item 414937310.

rs4149373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:24077153 (GRCh38)
2:24300023 (GRCh37)
Canonical SPDI:: NC_000002.12:24077152:C:G,NC_000002.12:24077152:C:T
Gene:: TP53I3 (Varview), SF3B6 (Varview), FAM228B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.062227/825 (ALFA)
T=0.044463/745 (TOMMO)
T=0.076685/223 (KOREAN)
T=0.081576/147 (Korea1K)
T=0.125/5 (GENOME_DK)
T=0.137258/687 (1000Genomes)
T=0.14755/39055 (TOPMED)
T=0.148148/32 (Qatari)
T=0.18/108 (NorthernSweden)
T=0.200108/742 (TWINSUK)
T=0.204463/788 (ALSPAC)
C=0.423077/55 (SGDP_PRJ)
C=0.5/5 (Siberian)
HGVS:: NC_000002.12:g.24077153C>G, NC_000002.12:g.24077153C>T, NC_000002.11:g.24300023C>G, NC_000002.11:g.24300023C>T, NG_029715.1:g.13063G>C, NG_029715.1:g.13063G>A

Select item 414937411.

rs4149374 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGGG [Show Flanks]
Chromosome:: 2:24076808 (GRCh38)
2:24299678 (GRCh37)
Canonical SPDI:: NC_000002.12:24076807:GG:G,NC_000002.12:24076807:GG:GGG,NC_000002.12:24076807:GG:GGGGG
Gene:: SF3B6 (Varview), FAM228B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.35012/5694 (ALFA)
-=0.07182/1178 (TOMMO)
-=0.13446/238 (Korea1K)
-=0.21053/8 (GENOME_DK)
-=0.33503/197 (NorthernSweden)
G=0.36581/1832 (1000Genomes)
G=0.48614/37929 (GnomAD)
HGVS:: NC_000002.12:g.24076809del, NC_000002.12:g.24076809dup, NC_000002.12:g.24076809_24076810insGGG, NC_000002.11:g.24299679del, NC_000002.11:g.24299679dup, NC_000002.11:g.24299679_24299680insGGG, NG_029715.1:g.13408del, NG_029715.1:g.13408dup, NG_029715.1:g.13408_13409insCCC

Select item 414937512.

rs4149375 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 2:24076665 (GRCh38)
2:24299535 (GRCh37)
Canonical SPDI:: NC_000002.12:24076664:GG:G,NC_000002.12:24076664:GG:GGG
Gene:: SF3B6 (Varview), FAM228B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.12419/2027 (ALFA)
-=0.0233/390 (TOMMO)
-=0.09635/483 (1000Genomes)
-=0.1/4 (GENOME_DK)
-=0.13207/509 (ALSPAC)
-=0.14374/533 (TWINSUK)
-=0.15167/91 (NorthernSweden)
-=0.1644/14360 (GnomAD)
HGVS:: NC_000002.12:g.24076666del, NC_000002.12:g.24076666dup, NC_000002.11:g.24299536del, NC_000002.11:g.24299536dup, NG_029715.1:g.13551del, NG_029715.1:g.13551dup

Select item 466565413.

rs4665654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:24072925 (GRCh38)
2:24295795 (GRCh37)
Canonical SPDI:: NC_000002.12:24072924:G:A,NC_000002.12:24072924:G:C,NC_000002.12:24072924:G:T
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.009582/181 (ALFA)
G=0./0 (GENOME_DK)
G=0./0 (HapMap)
T=0./0 (KOREAN)
G=0./0 (Siberian)
G=0./0 (Vietnamese)
G=0.000212/4 (TOMMO)
G=0.001092/2 (Korea1K)
G=0.004008/4 (GoNL)
G=0.005465/27 (1000Genomes)
G=0.007168/4 (SGDP_PRJ)
G=0.008176/1147 (GnomAD)
G=0.008333/5 (NorthernSweden)
G=0.008563/33 (ALSPAC)
G=0.0089/33 (TWINSUK)
G=0.008984/2378 (TOPMED)
G=0.01317/59 (Estonian)
G=0.050926/11 (Qatari)
HGVS:: NC_000002.12:g.24072925G>A, NC_000002.12:g.24072925G>C, NC_000002.12:g.24072925G>T, NC_000002.11:g.24295795G>A, NC_000002.11:g.24295795G>C, NC_000002.11:g.24295795G>T

Select item 670931814.

rs6709318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24073912 (GRCh38)
2:24296782 (GRCh37)
Canonical SPDI:: NC_000002.12:24073911:C:T
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.017591/2344 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (PRJEB36033)
T=0.00027/1 (TWINSUK)
T=0.001002/1 (GoNL)
T=0.001116/5 (Estonian)
T=0.003745/2 (MGP)
T=0.044626/93 (HGDP_Stanford)
T=0.064815/14 (Qatari)
T=0.088854/12442 (GnomAD)
T=0.094133/24916 (TOPMED)
T=0.095253/477 (1000Genomes)
T=0.230056/248 (HapMap)
C=0.35/14 (SGDP_PRJ)
HGVS:: NC_000002.12:g.24073912C>T, NC_000002.11:g.24296782C>T

Select item 671407415.

rs6714074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24069421 (GRCh38)
2:24292291 (GRCh37)
Canonical SPDI:: NC_000002.12:24069420:C:T
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.014001/302 (ALFA)
T=0./0 (ALSPAC)
T=0.000035/1 (TOMMO)
T=0.000223/1 (Estonian)
T=0.00027/1 (TWINSUK)
T=0.001002/1 (GoNL)
T=0.009259/2 (Qatari)
T=0.009677/3 (HapMap)
T=0.016084/81 (1000Genomes)
T=0.016281/2283 (GnomAD)
T=0.016789/4444 (TOPMED)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000002.12:g.24069421C>T, NC_000002.11:g.24292291C>T

Select item 671462316.

rs6714623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24069865 (GRCh38)
2:24292735 (GRCh37)
Canonical SPDI:: NC_000002.12:24069864:C:T
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.131181/2478 (ALFA)
T=0.024736/415 (TOMMO)
T=0.037884/111 (KOREAN)
T=0.046296/10 (Vietnamese)
T=0.092593/20 (Qatari)
T=0.097439/488 (1000Genomes)
T=0.1/4 (GENOME_DK)
T=0.105282/27867 (TOPMED)
T=0.118949/16671 (GnomAD)
T=0.132071/509 (ALSPAC)
T=0.134269/134 (GoNL)
T=0.143474/532 (TWINSUK)
T=0.145982/654 (Estonian)
T=0.151667/91 (NorthernSweden)
C=0.444444/8 (Siberian)
C=0.47619/40 (SGDP_PRJ)
HGVS:: NC_000002.12:g.24069865C>T, NC_000002.11:g.24292735C>T

Select item 671474317.

rs6714743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:24069943 (GRCh38)
2:24292813 (GRCh37)
Canonical SPDI:: NC_000002.12:24069942:C:A,NC_000002.12:24069942:C:T
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.131286/2480 (ALFA)
T=0.024736/415 (TOMMO)
T=0.037543/110 (KOREAN)
T=0.041667/9 (Vietnamese)
T=0.079268/26 (HapMap)
T=0.092593/20 (Qatari)
T=0.097439/488 (1000Genomes)
T=0.1/4 (GENOME_DK)
T=0.105459/27914 (TOPMED)
T=0.132071/509 (ALSPAC)
T=0.134269/134 (GoNL)
T=0.143474/532 (TWINSUK)
T=0.145982/654 (Estonian)
T=0.151667/91 (NorthernSweden)
C=0.444444/8 (Siberian)
C=0.47619/40 (SGDP_PRJ)
HGVS:: NC_000002.12:g.24069943C>A, NC_000002.12:g.24069943C>T, NC_000002.11:g.24292813C>A, NC_000002.11:g.24292813C>T

Select item 672022618.

rs6720226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:24072983 (GRCh38)
2:24295853 (GRCh37)
Canonical SPDI:: NC_000002.12:24072982:A:G
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.395252/8558 (ALFA)
G=0.101706/1705 (TOMMO)
G=0.121502/356 (KOREAN)
G=0.137009/251 (Korea1K)
G=0.199074/43 (Vietnamese)
G=0.225/9 (GENOME_DK)
G=0.337963/73 (Qatari)
G=0.338333/203 (NorthernSweden)
G=0.342634/1535 (Estonian)
G=0.355215/1369 (ALSPAC)
G=0.358954/1331 (TWINSUK)
G=0.369925/1853 (1000Genomes)
G=0.374749/374 (GoNL)
A=0.377778/102 (SGDP_PRJ)
G=0.386985/102431 (TOPMED)
G=0.397479/55659 (GnomAD)
A=0.464286/13 (Siberian)
HGVS:: NC_000002.12:g.24072983A>G, NC_000002.11:g.24295853A>G

Select item 672893019.

rs6728930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:24069483 (GRCh38)
2:24292353 (GRCh37)
Canonical SPDI:: NC_000002.12:24069482:A:G,NC_000002.12:24069482:A:T
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.124786/2328 (ALFA)
T=0.024772/415 (TOMMO)
T=0.037543/110 (KOREAN)
T=0.046729/10 (Vietnamese)
T=0.078947/96 (HapMap)
T=0.083333/18 (Qatari)
T=0.094785/475 (1000Genomes)
T=0.1/4 (GENOME_DK)
T=0.102546/27143 (TOPMED)
T=0.116144/16268 (GnomAD)
T=0.132071/509 (ALSPAC)
T=0.134269/134 (GoNL)
T=0.143204/531 (TWINSUK)
T=0.145759/653 (Estonian)
T=0.151667/91 (NorthernSweden)
A=0.444444/8 (Siberian)
A=0.47619/40 (SGDP_PRJ)
HGVS:: NC_000002.12:g.24069483A>G, NC_000002.12:g.24069483A>T, NC_000002.11:g.24292353A>G, NC_000002.11:g.24292353A>T

Select item 672923120.

rs6729231 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:24069727 (GRCh38)
2:24292597 (GRCh37)
Canonical SPDI:: NC_000002.12:24069726:A:T
Gene:: SF3B6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.1081/2042 (ALFA)
T=0.016739/281 (TOMMO)
T=0.027986/82 (KOREAN)
T=0.028037/6 (Vietnamese)
T=0.039847/73 (Korea1K)
T=0.041667/9 (Qatari)
T=0.05/2 (GENOME_DK)
T=0.058089/291 (1000Genomes)
T=0.074438/19703 (TOPMED)
T=0.088732/12429 (GnomAD)
T=0.114228/114 (GoNL)
T=0.118578/457 (ALSPAC)
T=0.125135/464 (TWINSUK)
T=0.138333/83 (NorthernSweden)
T=0.139509/625 (Estonian)
A=0.444444/8 (Siberian)
A=0.482143/27 (SGDP_PRJ)
HGVS:: NC_000002.12:g.24069727A>T, NC_000002.11:g.24292597A>T

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