BCL7C - SNP

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Select item 8979841.

rs897984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:30875322 (GRCh38)
16:30886643 (GRCh37)
Canonical SPDI:: NC_000016.10:30875321:T:C,NC_000016.10:30875321:T:G
Gene:: BCL7C (Varview), MIR4519 (Varview), MIR762HG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.402589/19656 (ALFA)
T=0.074163/217 (KOREAN)
T=0.086997/1458 (TOMMO)
T=0.136792/29 (Vietnamese)
T=0.18/9 (Siberian)
T=0.219807/91 (SGDP_PRJ)
C=0.333333/4 (PRJEB36033)
T=0.35/14 (GENOME_DK)
T=0.378453/137 (GnomAD_exomes)
T=0.387649/1494 (ALSPAC)
T=0.39/234 (NorthernSweden)
T=0.391855/1453 (TWINSUK)
T=0.395792/395 (GoNL)
T=0.396652/1777 (Estonian)
C=0.446284/2235 (1000Genomes)
C=0.479006/126788 (TOPMED)
C=0.479372/67136 (GnomAD)
T=0.481481/104 (Qatari)
T=0.5/1 (ExAC)
HGVS:: NC_000016.10:g.30875322T>C, NC_000016.10:g.30875322T>G, NC_000016.9:g.30886643T>C, NC_000016.9:g.30886643T>G, NR_039744.1:n.2A>G, NR_039744.1:n.2A>C

PubMed LitVar

Select item 21252932.

rs2125293 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30852554 (GRCh38)
16:30863875 (GRCh37)
Canonical SPDI:: NC_000016.10:30852553:T:C
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.272419/5146 (ALFA)
T=0.068601/201 (KOREAN)
T=0.076923/4 (Siberian)
T=0.080909/1355 (TOMMO)
T=0.134615/28 (Vietnamese)
T=0.189243/95 (SGDP_PRJ)
T=0.244184/64633 (TOPMED)
T=0.253541/35012 (GnomAD)
T=0.264529/264 (GoNL)
T=0.266736/1028 (ALSPAC)
T=0.27562/1022 (TWINSUK)
T=0.30558/1369 (Estonian)
T=0.307464/1540 (1000Genomes)
T=0.31/186 (NorthernSweden)
T=0.310185/67 (Qatari)
HGVS:: NC_000016.10:g.30852554T>C, NC_000016.9:g.30863875T>C

Select item 21252943.

rs2125294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30844260 (GRCh38)
16:30855581 (GRCh37)
Canonical SPDI:: NC_000016.10:30844259:G:A
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.30844260G>A, NC_000016.9:g.30855581G>A

Select item 21688344.

rs2168834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 16:30852526 (GRCh38)
16:30863847 (GRCh37)
Canonical SPDI:: NC_000016.10:30852525:T:A,NC_000016.10:30852525:T:C,NC_000016.10:30852525:T:G
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.273541/5165 (ALFA)
G=0./0 (KOREAN)
T=0.081126/1358 (TOMMO)
T=0.083333/4 (Siberian)
T=0.189243/95 (SGDP_PRJ)
T=0.244267/64655 (TOPMED)
T=0.254314/34602 (GnomAD)
T=0.264529/264 (GoNL)
T=0.266476/1027 (ALSPAC)
T=0.27562/1022 (TWINSUK)
T=0.307464/1540 (1000Genomes)
T=0.310185/67 (Qatari)
T=0.311354/1393 (Estonian)
T=0.313333/188 (NorthernSweden)
HGVS:: NC_000016.10:g.30852526T>A, NC_000016.10:g.30852526T>C, NC_000016.10:g.30852526T>G, NC_000016.9:g.30863847T>A, NC_000016.9:g.30863847T>C, NC_000016.9:g.30863847T>G

Select item 23350135.

rs2335013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 16:30866025 (GRCh38)
16:30877346 (GRCh37)
Canonical SPDI:: NC_000016.10:30866024:T:A,NC_000016.10:30866024:T:G
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.37481/2964 (ALFA)
T=0.068942/202 (KOREAN)
T=0.076923/4 (Siberian)
T=0.081345/1363 (TOMMO)
T=0.14486/31 (Vietnamese)
T=0.178431/91 (SGDP_PRJ)
T=0.247112/65408 (TOPMED)
T=0.265531/265 (GoNL)
T=0.266217/1026 (ALSPAC)
T=0.275/11 (GENOME_DK)
T=0.27589/1023 (TWINSUK)
T=0.306833/1374 (Estonian)
T=0.308869/1547 (1000Genomes)
T=0.314815/68 (Qatari)
T=0.315/189 (NorthernSweden)
HGVS:: NC_000016.10:g.30866025T>A, NC_000016.10:g.30866025T>G, NC_000016.9:g.30877346T>A, NC_000016.9:g.30877346T>G

Select item 28783046.

rs2878304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:30867045 (GRCh38)
16:30878366 (GRCh37)
Canonical SPDI:: NC_000016.10:30867044:C:A,NC_000016.10:30867044:C:G,NC_000016.10:30867044:C:T
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.316169/6183 (ALFA)
G=0./0 (KOREAN)
C=0.076923/4 (Siberian)
C=0.081216/1361 (TOMMO)
C=0.136792/29 (Vietnamese)
C=0.19246/97 (SGDP_PRJ)
C=0.262722/69540 (TOPMED)
C=0.268537/268 (GoNL)
C=0.269102/37670 (GnomAD)
C=0.270887/1044 (ALSPAC)
C=0.275/11 (GENOME_DK)
C=0.276969/1027 (TWINSUK)
C=0.296296/64 (Qatari)
C=0.307812/1379 (Estonian)
C=0.311667/187 (NorthernSweden)
C=0.320269/1604 (1000Genomes)
HGVS:: NC_000016.10:g.30867045C>A, NC_000016.10:g.30867045C>G, NC_000016.10:g.30867045C>T, NC_000016.9:g.30878366C>A, NC_000016.9:g.30878366C>G, NC_000016.9:g.30878366C>T

Select item 37518717.

rs3751871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30888914 (GRCh38)
16:30900235 (GRCh37)
Canonical SPDI:: NC_000016.10:30888913:G:A
Gene:: BCL7C (Varview), MIR762HG (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006792/1122 (ALFA)
A=0.003745/2 (MGP)
A=0.00431/56 (GoESP)
A=0.00463/1 (Qatari)
A=0.005/3 (NorthernSweden)
A=0.00692/31 (Estonian)
A=0.007012/26 (TWINSUK)
A=0.00706/990 (GnomAD)
A=0.007658/2027 (TOPMED)
A=0.008016/8 (GoNL)
A=0.010379/40 (ALSPAC)
A=0.011601/1408 (ExAC)
A=0.012404/3119 (GnomAD_exomes)
A=0.013158/4 (FINRISK)
A=0.019363/97 (1000Genomes)
A=0.025/1 (GENOME_DK)
A=0.04902/30 (Vietnamese)
A=0.049683/47 (HapMap)
A=0.1119/205 (Korea1K)
A=0.117747/345 (KOREAN)
A=0.156274/2619 (TOMMO)
G=0.5/1 (Siberian)
G=0.5/9 (SGDP_PRJ)
HGVS:: NC_000016.10:g.30888914G>A, NC_000016.9:g.30900235G>A, XM_011545980.4:c.474C>T, XM_011545980.3:c.474C>T, XM_011545980.2:c.474C>T, XM_011545980.1:c.474C>T, NM_004765.4:c.474C>T, NM_004765.3:c.474C>T, NM_004765.2:c.474C>T, NM_001286526.2:c.474C>T, NM_001286526.1:c.474C>T, XM_047434896.1:c.474C>T, XM_047434897.1:c.375C>T, XM_047434898.1:c.276C>T, NR_110940.1:n.860G>A, XM_047434899.1:c.375C>T, XM_047434900.1:c.*17C>T

Select item 37947078.

rs3794707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:30893726 (GRCh38)
16:30905047 (GRCh37)
Canonical SPDI:: NC_000016.10:30893725:C:G
Gene:: BCL7C (Varview), MIR762 (Varview), MIR762HG (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (HapMap)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000743/12 (TOMMO)
HGVS:: NC_000016.10:g.30893726C>G, NC_000016.9:g.30905047C>G, NG_009171.1:g.2120C>G

Select item 40460929.

rs4046092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 16:30865904 (GRCh38)
16:30877225 (GRCh37)
Canonical SPDI:: NC_000016.10:30865890:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:30865890:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:30865890:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:30865890:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:30865890:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:30865890:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:30865890:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:30865890:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30865890:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30865890:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30865890:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.0658/244 (TWINSUK)
T=0.0677/261 (ALSPAC)
T=0.366/1833 (1000Genomes)
HGVS:: NC_000016.10:g.30865904_30865906del, NC_000016.10:g.30865905_30865906del, NC_000016.10:g.30865906del, NC_000016.10:g.30865906dup, NC_000016.10:g.30865905_30865906dup, NC_000016.10:g.30865904_30865906dup, NC_000016.10:g.30865903_30865906dup, NC_000016.10:g.30865902_30865906dup, NC_000016.10:g.30865901_30865906dup, NC_000016.10:g.30865900_30865906dup, NC_000016.10:g.30865899_30865906dup, NC_000016.9:g.30877225_30877227del, NC_000016.9:g.30877226_30877227del, NC_000016.9:g.30877227del, NC_000016.9:g.30877227dup, NC_000016.9:g.30877226_30877227dup, NC_000016.9:g.30877225_30877227dup, NC_000016.9:g.30877224_30877227dup, NC_000016.9:g.30877223_30877227dup, NC_000016.9:g.30877222_30877227dup, NC_000016.9:g.30877221_30877227dup, NC_000016.9:g.30877220_30877227dup

Select item 429048610.

rs4290486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:30878824 (GRCh38)
16:30890145 (GRCh37)
Canonical SPDI:: NC_000016.10:30878823:C:A,NC_000016.10:30878823:C:G,NC_000016.10:30878823:C:T
Gene:: BCL7C (Varview), MIR762HG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.381291/3909 (ALFA)
G=0./0 (PRJEB36033)
C=0.075427/221 (KOREAN)
C=0.087917/1473 (TOMMO)
C=0.219807/91 (SGDP_PRJ)
C=0.25/9 (Siberian)
C=0.35/14 (GENOME_DK)
C=0.387649/1494 (ALSPAC)
C=0.391855/1453 (TWINSUK)
C=0.392977/235 (NorthernSweden)
C=0.39479/394 (GoNL)
G=0.445971/2233 (1000Genomes)
C=0.476852/103 (Qatari)
G=0.47896/126776 (TOPMED)
G=0.486716/66428 (GnomAD)
HGVS:: NC_000016.10:g.30878824C>A, NC_000016.10:g.30878824C>G, NC_000016.10:g.30878824C>T, NC_000016.9:g.30890145C>A, NC_000016.9:g.30890145C>G, NC_000016.9:g.30890145C>T

Select item 436095511.

rs4360955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30892569 (GRCh38)
16:30903890 (GRCh37)
Canonical SPDI:: NC_000016.10:30892568:G:A
Gene:: BCL7C (Varview), MIR762 (Varview), MIR762HG (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.30892569G>A, NC_000016.9:g.30903890G>A, NG_009171.1:g.963G>A

Select item 449456212.

rs4494562 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:30892573 (GRCh38)
16:30903894 (GRCh37)
Canonical SPDI:: NC_000016.10:30892572:T:A
Gene:: BCL7C (Varview), MIR762 (Varview), MIR762HG (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.30892573T>A, NC_000016.9:g.30903894T>A, NG_009171.1:g.967T>A

Select item 488952413.

rs4889524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 16:30842710 (GRCh38)
16:30854031 (GRCh37)
Canonical SPDI:: NC_000016.10:30842709:T:A,NC_000016.10:30842709:T:C,NC_000016.10:30842709:T:G
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (GENOME_DK)
A=0./0 (KOREAN)
T=0./0 (NorthernSweden)
T=0./0 (Siberian)
T=0./0 (TWINSUK)
T=0.000546/1 (Korea1K)
T=0.001239/21 (TOMMO)
T=0.004673/1 (Vietnamese)
T=0.012681/7 (SGDP_PRJ)
T=0.013889/3 (Qatari)
T=0.031835/4463 (GnomAD)
T=0.033417/167 (1000Genomes)
T=0.033503/8868 (TOPMED)
HGVS:: NC_000016.10:g.30842710T>A, NC_000016.10:g.30842710T>C, NC_000016.10:g.30842710T>G, NC_000016.9:g.30854031T>A, NC_000016.9:g.30854031T>C, NC_000016.9:g.30854031T>G

Select item 488952714.

rs4889527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 16:30848977 (GRCh38)
16:30860298 (GRCh37)
Canonical SPDI:: NC_000016.10:30848976:A:C,NC_000016.10:30848976:A:G,NC_000016.10:30848976:A:T
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006803/126 (ALFA)
A=0./0 (GENOME_DK)
T=0./0 (KOREAN)
A=0./0 (NorthernSweden)
A=0./0 (Qatari)
A=0./0 (SGDP_PRJ)
A=0.000071/1 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.011754/1634 (GnomAD)
A=0.012124/3209 (TOPMED)
A=0.012648/63 (1000Genomes)
HGVS:: NC_000016.10:g.30848977A>C, NC_000016.10:g.30848977A>G, NC_000016.10:g.30848977A>T, NC_000016.9:g.30860298A>C, NC_000016.9:g.30860298A>G, NC_000016.9:g.30860298A>T

Select item 488952815.

rs4889528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:30849222 (GRCh38)
16:30860543 (GRCh37)
Canonical SPDI:: NC_000016.10:30849221:G:C,NC_000016.10:30849221:G:T
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.018634/352 (ALFA)
G=0./0 (ALSPAC)
G=0./0 (GENOME_DK)
G=0./0 (Korea1K)
G=0./0 (NorthernSweden)
G=0./0 (Siberian)
G=0./0 (TWINSUK)
G=0./0 (Vietnamese)
G=0.000341/1 (KOREAN)
G=0.001239/21 (TOMMO)
G=0.01087/6 (SGDP_PRJ)
G=0.013889/3 (Qatari)
G=0.031807/4454 (GnomAD)
G=0.032792/164 (1000Genomes)
G=0.033439/8851 (TOPMED)
HGVS:: NC_000016.10:g.30849222G>C, NC_000016.10:g.30849222G>T, NC_000016.9:g.30860543G>C, NC_000016.9:g.30860543G>T

Select item 488953416.

rs4889534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30854119 (GRCh38)
16:30865440 (GRCh37)
Canonical SPDI:: NC_000016.10:30854118:T:C
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.25629/16054 (ALFA)
T=0.067577/198 (KOREAN)
T=0.076923/4 (Siberian)
T=0.080154/1343 (TOMMO)
C=0.082397/44 (MGP)
T=0.130841/28 (Vietnamese)
T=0.191235/96 (SGDP_PRJ)
T=0.25/30 (HapMap)
T=0.250671/66350 (TOPMED)
T=0.258988/36248 (GnomAD)
T=0.264529/264 (GoNL)
T=0.265957/1025 (ALSPAC)
T=0.274542/1018 (TWINSUK)
T=0.286096/321 (Daghestan)
T=0.3/12 (GENOME_DK)
T=0.302679/1356 (Estonian)
T=0.31/186 (NorthernSweden)
T=0.312149/1563 (1000Genomes)
T=0.314815/68 (Qatari)
HGVS:: NC_000016.10:g.30854119T>C, NC_000016.9:g.30865440T>C

Select item 488953617.

rs4889536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:30860434 (GRCh38)
16:30871755 (GRCh37)
Canonical SPDI:: NC_000016.10:30860433:G:A,NC_000016.10:30860433:G:C,NC_000016.10:30860433:G:T
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.067281/197 (KOREAN)
G=0.076923/4 (Siberian)
G=0.080307/1346 (TOMMO)
G=0.134259/29 (Vietnamese)
G=0.177734/91 (SGDP_PRJ)
T=0.187266/100 (MGP)
G=0.246859/65341 (TOPMED)
G=0.264529/264 (GoNL)
G=0.275/11 (GENOME_DK)
G=0.303125/1358 (Estonian)
G=0.30965/1551 (1000Genomes)
G=0.31/186 (NorthernSweden)
G=0.310185/67 (Qatari)
HGVS:: NC_000016.10:g.30860434G>A, NC_000016.10:g.30860434G>C, NC_000016.10:g.30860434G>T, NC_000016.9:g.30871755G>A, NC_000016.9:g.30871755G>C, NC_000016.9:g.30871755G>T

Select item 488961118.

rs4889611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 16:30848921 (GRCh38)
16:30860242 (GRCh37)
Canonical SPDI:: NC_000016.10:30848920:T:A,NC_000016.10:30848920:T:C,NC_000016.10:30848920:T:G
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.018364/340 (ALFA)
T=0./0 (GENOME_DK)
G=0./0 (KOREAN)
T=0./0 (Korea1K)
T=0./0 (NorthernSweden)
T=0./0 (Siberian)
T=0.00131/22 (TOMMO)
T=0.01087/6 (SGDP_PRJ)
T=0.013889/3 (Qatari)
T=0.031472/4310 (GnomAD)
T=0.032792/164 (1000Genomes)
T=0.03342/8846 (TOPMED)
HGVS:: NC_000016.10:g.30848921T>A, NC_000016.10:g.30848921T>C, NC_000016.10:g.30848921T>G, NC_000016.9:g.30860242T>A, NC_000016.9:g.30860242T>C, NC_000016.9:g.30860242T>G

Select item 488961219.

rs4889612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 16:30848983 (GRCh38)
16:30860304 (GRCh37)
Canonical SPDI:: NC_000016.10:30848982:T:A,NC_000016.10:30848982:T:C,NC_000016.10:30848982:T:G
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.016144/280 (ALFA)
T=0./0 (GENOME_DK)
T=0./0 (NorthernSweden)
T=0.000546/1 (Korea1K)
T=0.001275/21 (TOMMO)
T=0.002391/7 (KOREAN)
T=0.01087/6 (SGDP_PRJ)
T=0.013889/3 (Qatari)
T=0.031851/4430 (GnomAD)
T=0.033104/166 (1000Genomes)
T=0.033428/8848 (TOPMED)
HGVS:: NC_000016.10:g.30848983T>A, NC_000016.10:g.30848983T>C, NC_000016.10:g.30848983T>G, NC_000016.9:g.30860304T>A, NC_000016.9:g.30860304T>C, NC_000016.9:g.30860304T>G

Select item 488961420.

rs4889614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:30850814 (GRCh38)
16:30862135 (GRCh37)
Canonical SPDI:: NC_000016.10:30850813:G:A,NC_000016.10:30850813:G:T
Gene:: BCL7C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.261034/11734 (ALFA)
G=0.067577/198 (KOREAN)
G=0.076923/4 (Siberian)
G=0.08065/1352 (TOMMO)
G=0.127358/27 (Vietnamese)
G=0.177734/91 (SGDP_PRJ)
G=0.230973/437 (HapMap)
G=0.246964/65369 (TOPMED)
G=0.255403/35761 (GnomAD)
G=0.265531/265 (GoNL)
G=0.267255/1030 (ALSPAC)
G=0.274811/1019 (TWINSUK)
G=0.275/11 (GENOME_DK)
G=0.303348/1359 (Estonian)
G=0.309338/1549 (1000Genomes)
G=0.31/186 (NorthernSweden)
G=0.310185/67 (Qatari)
HGVS:: NC_000016.10:g.30850814G>A, NC_000016.10:g.30850814G>T, NC_000016.9:g.30862135G>A, NC_000016.9:g.30862135G>T

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