BET1 - SNP - NCBI

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Select item 3725138691.

rs372513869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:93996314 (GRCh38)
7:93625626 (GRCh37)
Canonical SPDI:: NC_000007.14:93996313:A:C
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000018/4 (GnomAD_exomes)
C=0.000077/1 (GoESP)
HGVS:: NC_000007.14:g.93996314A>C, NC_000007.13:g.93625626A>C, NM_005868.6:c.152T>G, NM_005868.5:c.152T>G, NM_005868.4:c.152T>G, NR_133908.2:n.291T>G, NR_133908.1:n.318T>G, NR_133909.2:n.291T>G, NR_133909.1:n.318T>G, NM_001317739.2:c.152T>G, NM_001317739.1:c.152T>G, NP_005859.1:p.Ile51Ser, NP_001304668.1:p.Ile51Ser

Select item 5417542962.

rs541754296 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 7:93999180 (GRCh38)
7:93628492 (GRCh37)
Canonical SPDI:: NC_000007.14:93999179:G:
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000218/6 (ALFA)
-=0./0 (PAGE_STUDY)
-=0.000106/12 (ExAC)
-=0.000108/27 (GnomAD_exomes)
-=0.000114/16 (GnomAD)
-=0.000178/47 (TOPMED)
-=0.000223/1 (Estonian)
-=0.000259/1 (ALSPAC)
-=0.00027/1 (TWINSUK)
-=0.00032/4 (GoESP)
-=0.001002/1 (GoNL)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000007.14:g.93999180del, NC_000007.13:g.93628492del, NM_005868.6:c.134del, NM_005868.5:c.134del, NM_005868.4:c.134del, NR_133908.2:n.273del, NR_133908.1:n.300del, NR_133909.2:n.273del, NR_133909.1:n.300del, NM_001317739.2:c.134del, NM_001317739.1:c.134del, NP_005859.1:p.Ala45fs, NP_001304668.1:p.Ala45fs

Select item 15628065843.

rs1562806584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:93994385 (GRCh38)
7:93623697 (GRCh37)
Canonical SPDI:: NC_000007.14:93994384:C:G
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000007.14:g.93994385C>G, NC_000007.13:g.93623697C>G, NM_005868.6:c.202G>C, NM_005868.5:c.202G>C, NM_005868.4:c.202G>C, NR_133908.2:n.341G>C, NR_133908.1:n.368G>C, NM_001317739.2:c.202G>C, NM_001317739.1:c.202G>C, NP_005859.1:p.Asp68His, NP_001304668.1:p.Asp68His

Select item 7268204.

rs726820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:93982598 (GRCh38)
7:93611910 (GRCh37)
Canonical SPDI:: NC_000007.14:93982597:G:A
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.114392/3758 (ALFA)
A=0.039847/73 (Korea1K)
A=0.041752/122 (KOREAN)
A=0.042056/9 (Vietnamese)
A=0.058426/979 (TOMMO)
A=0.058531/94 (HapMap)
A=0.06794/5344 (PAGE_STUDY)
A=0.068239/342 (1000Genomes)
A=0.092346/24443 (TOPMED)
A=0.092593/20 (Qatari)
A=0.094188/94 (GoNL)
A=0.094276/13200 (GnomAD)
A=0.105/63 (NorthernSweden)
A=0.123508/476 (ALSPAC)
A=0.125/5 (GENOME_DK)
A=0.134035/497 (TWINSUK)
A=0.136607/612 (Estonian)
A=0.138204/157 (Daghestan)
A=0.222222/12 (PRJEB36033)
G=0.428571/6 (Siberian)
G=0.486842/37 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93982598G>A, NC_000007.13:g.93611910G>A

PubMed

Select item 10084545.

rs1008454 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 7:93973820 (GRCh38)
7:93603132 (GRCh37)
Canonical SPDI:: NC_000007.14:93973819:A:C,NC_000007.14:93973819:A:G,NC_000007.14:93973819:A:T
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.387583/9957 (ALFA)
T=0./0 (KOREAN)
G=0.247604/155 (Chileans)
A=0.285714/8 (Siberian)
G=0.328657/328 (GoNL)
G=0.330636/1226 (TWINSUK)
A=0.334065/5598 (TOMMO)
G=0.335755/1294 (ALSPAC)
G=0.34308/1537 (Estonian)
A=0.345506/123 (SGDP_PRJ)
G=0.388333/233 (NorthernSweden)
A=0.409389/750 (Korea1K)
G=0.426044/59572 (GnomAD)
G=0.437013/115673 (TOPMED)
A=0.443396/94 (Vietnamese)
G=0.444444/96 (Qatari)
G=0.467364/2341 (1000Genomes)
A=0.475/19 (GENOME_DK)
A=0.479915/908 (HapMap)
HGVS:: NC_000007.14:g.93973820A>C, NC_000007.14:g.93973820A>G, NC_000007.14:g.93973820A>T, NC_000007.13:g.93603132A>C, NC_000007.13:g.93603132A>G, NC_000007.13:g.93603132A>T

Select item 10144246.

rs1014424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:93963534 (GRCh38)
7:93592846 (GRCh37)
Canonical SPDI:: NC_000007.14:93963533:G:A,NC_000007.14:93963533:G:C,NC_000007.14:93963533:G:T
Gene:: BET1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.033717/8412 (ALFA)
T=0./0 (KOREAN)
A=0.019643/88 (Estonian)
A=0.020758/80 (ALSPAC)
A=0.024048/24 (GoNL)
A=0.025351/94 (TWINSUK)
A=0.033546/21 (Chileans)
A=0.040887/5722 (GnomAD)
A=0.048521/12843 (TOPMED)
A=0.05/2 (GENOME_DK)
A=0.05/30 (NorthernSweden)
A=0.050926/11 (Qatari)
A=0.084369/95 (Daghestan)
A=0.085665/6742 (PAGE_STUDY)
A=0.105091/526 (1000Genomes)
A=0.13278/128 (HapMap)
A=0.287736/61 (Vietnamese)
A=0.316456/250 (PRJEB37584)
A=0.332424/609 (Korea1K)
A=0.350131/5867 (TOMMO)
G=0.375/3 (Siberian)
G=0.420635/53 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93963534G>A, NC_000007.14:g.93963534G>C, NC_000007.14:g.93963534G>T, NC_000007.13:g.93592846G>A, NC_000007.13:g.93592846G>C, NC_000007.13:g.93592846G>T, NR_133908.2:n.2814C>T, NR_133908.2:n.2814C>G, NR_133908.2:n.2814C>A, NR_133908.1:n.2841C>T, NR_133908.1:n.2841C>G, NR_133908.1:n.2841C>A, NR_133909.2:n.2691C>T, NR_133909.2:n.2691C>G, NR_133909.2:n.2691C>A, NR_133909.1:n.2718C>T, NR_133909.1:n.2718C>G, NR_133909.1:n.2718C>A

Select item 14768747.

rs1476874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:93991153 (GRCh38)
7:93620465 (GRCh37)
Canonical SPDI:: NC_000007.14:93991152:T:C
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.032422/1603 (ALFA)
C=0.005/3 (NorthernSweden)
C=0.007055/8 (Daghestan)
C=0.01002/10 (GoNL)
C=0.015402/69 (Estonian)
C=0.016451/61 (TWINSUK)
C=0.01946/75 (ALSPAC)
C=0.025/1 (GENOME_DK)
C=0.032407/7 (Qatari)
C=0.044317/6213 (GnomAD)
C=0.045128/226 (1000Genomes)
C=0.045918/12154 (TOPMED)
C=0.049383/16 (HapMap)
T=0.375/6 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93991153T>C, NC_000007.13:g.93620465T>C

Select item 14768758.

rs1476875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:93991723 (GRCh38)
7:93621035 (GRCh37)
Canonical SPDI:: NC_000007.14:93991722:C:T
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.004289/579 (ALFA)
T=0.000446/2 (Estonian)
T=0.001667/1 (NorthernSweden)
T=0.001816/7 (ALSPAC)
T=0.002967/11 (TWINSUK)
T=0.003006/3 (GoNL)
T=0.010312/1446 (GnomAD)
T=0.011444/13 (Daghestan)
T=0.012656/3350 (TOPMED)
T=0.018519/4 (Qatari)
T=0.032636/163 (1000Genomes)
T=0.040714/57 (HapMap)
T=0.074766/16 (Vietnamese)
T=0.079128/1326 (TOMMO)
T=0.114648/335 (KOREAN)
T=0.127183/233 (Korea1K)
C=0.5/25 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93991723C>T, NC_000007.13:g.93621035C>T, NM_005868.4:c.*2507G>A

Select item 20415189.

rs2041518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:93984426 (GRCh38)
7:93613738 (GRCh37)
Canonical SPDI:: NC_000007.14:93984425:C:T
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.346322/51852 (ALFA)
C=0.264706/9 (Siberian)
T=0.330661/330 (GoNL)
T=0.331715/1230 (TWINSUK)
T=0.336015/1295 (ALSPAC)
C=0.33738/5654 (TOMMO)
T=0.340848/1527 (Estonian)
C=0.343243/127 (SGDP_PRJ)
C=0.383959/1125 (KOREAN)
T=0.386667/232 (NorthernSweden)
T=0.403151/56404 (GnomAD)
T=0.413038/109327 (TOPMED)
C=0.415393/761 (Korea1K)
C=0.429907/92 (Vietnamese)
T=0.448782/2248 (1000Genomes)
C=0.475/19 (GENOME_DK)
T=0.476852/103 (Qatari)
T=0.494709/935 (HapMap)
HGVS:: NC_000007.14:g.93984426C>T, NC_000007.13:g.93613738C>T

Select item 207243210.

rs2072432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:94003698 (GRCh38)
7:93633010 (GRCh37)
Canonical SPDI:: NC_000007.14:94003697:C:A
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.423409/10310 (ALFA)
A=0.231481/50 (Qatari)
C=0.277778/10 (Siberian)
A=0.292683/24 (PRJEB36033)
C=0.343558/112 (SGDP_PRJ)
A=0.382863/78516 (GENOGRAPHIC)
A=0.385113/1428 (TWINSUK)
A=0.391784/391 (GoNL)
A=0.397769/1533 (ALSPAC)
A=0.415625/1862 (Estonian)
A=0.420561/90 (Vietnamese)
A=0.43/258 (NorthernSweden)
A=0.445007/7457 (TOMMO)
A=0.445961/817 (Korea1K)
A=0.447833/118537 (TOPMED)
C=0.45/18 (GENOME_DK)
A=0.456086/63832 (GnomAD)
A=0.462211/2315 (1000Genomes)
A=0.466894/1368 (KOREAN)
A=0.486258/920 (HapMap)
HGVS:: NC_000007.14:g.94003698C>A, NC_000007.13:g.93633010C>A

Select item 207243311.

rs2072433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:94003816 (GRCh38)
7:93633128 (GRCh37)
Canonical SPDI:: NC_000007.14:94003815:C:A,NC_000007.14:94003815:C:T
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.317522/5998 (ALFA)
T=0.143519/31 (Qatari)
T=0.26267/69526 (TOPMED)
T=0.271705/1361 (1000Genomes)
C=0.277778/10 (Siberian)
T=0.278859/39048 (GnomAD)
T=0.283019/90 (HapMap)
T=0.366505/1359 (TWINSUK)
C=0.371094/95 (SGDP_PRJ)
T=0.37753/1455 (ALSPAC)
T=0.381764/381 (GoNL)
T=0.400223/1793 (Estonian)
T=0.411215/88 (Vietnamese)
T=0.425/255 (NorthernSweden)
T=0.445078/7459 (TOMMO)
T=0.445961/817 (Korea1K)
T=0.467577/1370 (KOREAN)
C=0.475/19 (GENOME_DK)
HGVS:: NC_000007.14:g.94003816C>A, NC_000007.14:g.94003816C>T, NC_000007.13:g.93633128C>A, NC_000007.13:g.93633128C>T

Select item 228684512.

rs2286845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:93994146 (GRCh38)
7:93623458 (GRCh37)
Canonical SPDI:: NC_000007.14:93994145:A:C,NC_000007.14:93994145:A:G
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.34235/42159 (ALFA)
G=0.189815/41 (Qatari)
A=0.277778/10 (Siberian)
G=0.289194/1448 (1000Genomes)
G=0.322097/172 (MGP)
G=0.369202/1369 (TWINSUK)
A=0.376812/104 (SGDP_PRJ)
G=0.380125/1465 (ALSPAC)
G=0.38477/384 (GoNL)
G=0.420561/90 (Vietnamese)
G=0.425/255 (NorthernSweden)
G=0.44869/822 (Korea1K)
G=0.452155/7577 (TOMMO)
G=0.470307/1378 (KOREAN)
A=0.475/19 (GENOME_DK)
G=0.478372/376 (PRJEB37584)
HGVS:: NC_000007.14:g.93994146A>C, NC_000007.14:g.93994146A>G, NC_000007.13:g.93623458A>C, NC_000007.13:g.93623458A>G, NM_005868.6:c.*84T>G, NM_005868.6:c.*84T>C, NM_005868.5:c.*84T>G, NM_005868.5:c.*84T>C, NM_005868.4:c.*84T>G, NM_005868.4:c.*84T>C

Select item 229941613.

rs2299416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:93997787 (GRCh38)
7:93627099 (GRCh37)
Canonical SPDI:: NC_000007.14:93997786:T:C
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.307129/8298 (ALFA)
C=0.189815/41 (Qatari)
T=0.277778/10 (Siberian)
C=0.281184/532 (HapMap)
C=0.281646/74549 (TOPMED)
C=0.28857/1445 (1000Genomes)
C=0.296344/41506 (GnomAD)
C=0.368932/1368 (TWINSUK)
T=0.376812/104 (SGDP_PRJ)
C=0.379865/1464 (ALSPAC)
C=0.38477/384 (GoNL)
C=0.40067/1795 (Estonian)
C=0.425/255 (NorthernSweden)
C=0.430556/93 (Vietnamese)
C=0.44869/822 (Korea1K)
C=0.45212/7577 (TOMMO)
C=0.470307/1378 (KOREAN)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000007.14:g.93997787T>C, NC_000007.13:g.93627099T>C

Select item 376347214.

rs3763472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94006082 (GRCh38)
7:93635394 (GRCh37)
Canonical SPDI:: NC_000007.14:94006081:C:T
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (HapMap)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000156/1 (1000Genomes)
T=0.000849/14 (TOMMO)
T=0.002396/7 (KOREAN)
T=0.00655/12 (Korea1K)
HGVS:: NC_000007.14:g.94006082C>T, NC_000007.13:g.93635394C>T

Select item 450455915.

rs4504559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:93983783 (GRCh38)
7:93613095 (GRCh37)
Canonical SPDI:: NC_000007.14:93983782:T:G
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.93983783T>G, NC_000007.13:g.93613095T>G

Select item 472910516.

rs4729105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:93977569 (GRCh38)
7:93606881 (GRCh37)
Canonical SPDI:: NC_000007.14:93977568:C:T
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.346499/97766 (ALFA)
C=0.285714/8 (Siberian)
T=0.307692/8 (PRJEB36033)
T=0.325651/325 (GoNL)
T=0.327465/372 (Daghestan)
T=0.329288/1221 (TWINSUK)
T=0.33316/1284 (ALSPAC)
C=0.33548/5622 (TOMMO)
T=0.342187/1533 (Estonian)
C=0.344444/124 (SGDP_PRJ)
C=0.383276/1123 (KOREAN)
T=0.386667/232 (NorthernSweden)
C=0.409934/751 (Korea1K)
T=0.419386/874 (HGDP_Stanford)
T=0.427676/59831 (GnomAD)
C=0.433962/92 (Vietnamese)
T=0.43894/116183 (TOPMED)
C=0.442748/348 (PRJEB37584)
T=0.444444/96 (Qatari)
T=0.474703/2377 (1000Genomes)
C=0.475/19 (GENOME_DK)
C=0.477273/903 (HapMap)
C=0.484721/38133 (PAGE_STUDY)
HGVS:: NC_000007.14:g.93977569C>T, NC_000007.13:g.93606881C>T

Select item 472910617.

rs4729106 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:93977698 (GRCh38)
7:93607010 (GRCh37)
Canonical SPDI:: NC_000007.14:93977697:T:C
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.303731/11724 (ALFA)
C=0.21885/137 (Chileans)
C=0.242958/276 (Daghestan)
C=0.24952/520 (HGDP_Stanford)
C=0.251638/461 (Korea1K)
C=0.261092/765 (KOREAN)
C=0.266355/57 (Vietnamese)
C=0.269988/1352 (1000Genomes)
C=0.27907/528 (HapMap)
C=0.29145/77144 (TOPMED)
C=0.292662/40930 (GnomAD)
C=0.30151/1118 (TWINSUK)
C=0.301603/301 (GoNL)
C=0.311624/1201 (ALSPAC)
C=0.312301/5234 (TOMMO)
T=0.318182/7 (Siberian)
C=0.322545/1445 (Estonian)
C=0.336667/202 (NorthernSweden)
C=0.351852/76 (Qatari)
C=0.404762/34 (PRJEB36033)
C=0.45/18 (GENOME_DK)
T=0.452991/106 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93977698T>C, NC_000007.13:g.93607010T>C

Select item 694536218.

rs6945362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:93992081 (GRCh38)
7:93621393 (GRCh37)
Canonical SPDI:: NC_000007.14:93992080:G:A,NC_000007.14:93992080:G:C,NC_000007.14:93992080:G:T
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.148148/32 (Qatari)
A=0.223982/17489 (PAGE_STUDY)
A=0.249423/216 (HapMap)
A=0.273135/72296 (TOPMED)
G=0.277778/10 (Siberian)
A=0.280918/1407 (1000Genomes)
A=0.288976/40456 (GnomAD)
A=0.366505/1359 (TWINSUK)
G=0.37594/100 (SGDP_PRJ)
A=0.37753/1455 (ALSPAC)
A=0.382766/382 (GoNL)
A=0.400893/1796 (Estonian)
A=0.40566/86 (Vietnamese)
A=0.425/255 (NorthernSweden)
A=0.444323/814 (Korea1K)
A=0.44437/7447 (TOMMO)
A=0.464505/1361 (KOREAN)
A=0.474425/371 (PRJEB37584)
G=0.475/19 (GENOME_DK)
HGVS:: NC_000007.14:g.93992081G>A, NC_000007.14:g.93992081G>C, NC_000007.14:g.93992081G>T, NC_000007.13:g.93621393G>A, NC_000007.13:g.93621393G>C, NC_000007.13:g.93621393G>T, NM_005868.4:c.*2149C>T, NM_005868.4:c.*2149C>G, NM_005868.4:c.*2149C>A, XR_001745270.3:n.4163G>A, XR_001745270.3:n.4163G>C, XR_001745270.3:n.4163G>T, XR_001745270.2:n.2940G>A, XR_001745270.2:n.2940G>C, XR_001745270.2:n.2940G>T, XR_001745270.1:n.512G>A, XR_001745270.1:n.512G>C, XR_001745270.1:n.512G>T, XR_001745271.3:n.4163G>A, XR_001745271.3:n.4163G>C, XR_001745271.3:n.4163G>T, XR_001745271.2:n.2940G>A, XR_001745271.2:n.2940G>C, XR_001745271.2:n.2940G>T, XR_001745271.1:n.512G>A, XR_001745271.1:n.512G>C, XR_001745271.1:n.512G>T, XR_007060641.1:n.4163G>A, XR_007060641.1:n.4163G>C, XR_007060641.1:n.4163G>T

Select item 695065819.

rs6950658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:93993055 (GRCh38)
7:93622367 (GRCh37)
Canonical SPDI:: NC_000007.14:93993054:G:T
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0./0 (HapMap)
HGVS:: NC_000007.14:g.93993055G>T, NC_000007.13:g.93622367G>T, NM_005868.4:c.*1175C>A, XR_007060641.1:n.5137G>T

Select item 696280020.

rs6962800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:93996544 (GRCh38)
7:93625856 (GRCh37)
Canonical SPDI:: NC_000007.14:93996543:T:A,NC_000007.14:93996543:T:C
Gene:: BET1 (Varview), LOC107986820 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.017798/507 (ALFA)
C=0.000035/1 (TOMMO)
C=0.005/3 (NorthernSweden)
C=0.015402/69 (Estonian)
C=0.018339/68 (TWINSUK)
C=0.019979/77 (ALSPAC)
C=0.025/1 (GENOME_DK)
C=0.074074/16 (Qatari)
C=0.149703/39625 (TOPMED)
C=0.151936/761 (1000Genomes)
C=0.199387/65 (HapMap)
T=0.366667/22 (SGDP_PRJ)
HGVS:: NC_000007.14:g.93996544T>A, NC_000007.14:g.93996544T>C, NC_000007.13:g.93625856T>A, NC_000007.13:g.93625856T>C

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