SNP Links for Nucleotide (Select 618857464) - SNP

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 12:11268654 (GRCh38)
12:11421588 (GRCh37)
Canonical SPDI:: NC_000012.12:11268653:C:
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000064/9 (GnomAD)
-=0.000121/32 (TOPMED)
HGVS:: NC_000012.12:g.11268654del, NC_000012.11:g.11421588del, NG_013305.2:g.6054del, NM_006249.5:c.79del, NM_006249.4:c.79del, NM_001394862.1:c.79del, NT_187658.1:g.463617del, NP_006240.4:p.Glu27fs, NP_001381791.1:p.Glu27fs

Select item 14813142446.

rs1481314244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:11265928 (GRCh38)
12:11418861 (GRCh37)
Canonical SPDI:: NC_000012.12:11265927:C:T
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.11265928C>T, NC_000012.11:g.11418861C>T, NG_013305.2:g.8780G>A, NM_006249.5:c.*119G>A, NM_006249.4:c.*119G>A, NM_001394862.1:c.*119G>A, NT_187658.1:g.460891C>T

Select item 14813033677.

rs1481303367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:11267848 (GRCh38)
12:11420782 (GRCh37)
Canonical SPDI:: NC_000012.12:11267847:G:A
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/2 (GnomAD_exomes)
A=0.000037/1 (TOMMO)
HGVS:: NC_000012.12:g.11267848G>A, NC_000012.11:g.11420782G>A, NG_013305.2:g.6860C>T, NM_006249.5:c.401C>T, NM_006249.4:c.401C>T, NM_001394862.1:c.401C>T, NT_187658.1:g.462811G>A, NP_006240.4:p.Pro134Leu, NP_001381791.1:p.Pro134Leu

Select item 14806165818.

rs1480616581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:11267732 (GRCh38)
12:11420666 (GRCh37)
Canonical SPDI:: NC_000012.12:11267731:A:G
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.01045/124 (ALFA)
G=0.03103/88 (KOREAN)
HGVS:: NC_000012.12:g.11267732A>G, NC_000012.11:g.11420666A>G, NG_013305.2:g.6976T>C, NM_006249.5:c.517T>C, NM_006249.4:c.517T>C, NM_001394862.1:c.517T>C, NT_187658.1:g.462695A>G, NP_006240.4:p.Ser173Pro, NP_001381791.1:p.Ser173Pro

Select item 14793465939.

rs1479346593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:11267219 (GRCh38)
12:11420152 (GRCh37)
Canonical SPDI:: NC_000012.12:11267218:G:T
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11267219G>T, NC_000012.11:g.11420152G>T, NG_013305.2:g.7489C>A, NM_006249.5:c.904C>A, NM_006249.4:c.904C>A, NM_001394862.1:c.1030C>A, NT_187658.1:g.462182G>T, NP_006240.4:p.Pro302Thr, NP_001381791.1:p.Pro344Thr

Select item 147714378310.

rs1477143783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:11267941 (GRCh38)
12:11420875 (GRCh37)
Canonical SPDI:: NC_000012.12:11267940:G:A,NC_000012.12:11267940:G:C,NC_000012.12:11267940:G:T
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000009/1 (GnomAD)
HGVS:: NC_000012.12:g.11267941G>A, NC_000012.12:g.11267941G>C, NC_000012.12:g.11267941G>T, NC_000012.11:g.11420875G>A, NC_000012.11:g.11420875G>C, NC_000012.11:g.11420875G>T, NG_013305.2:g.6767C>T, NG_013305.2:g.6767C>G, NG_013305.2:g.6767C>A, NM_006249.5:c.308C>T, NM_006249.5:c.308C>G, NM_006249.5:c.308C>A, NM_006249.4:c.308C>T, NM_006249.4:c.308C>G, NM_006249.4:c.308C>A, NM_001394862.1:c.308C>T, NM_001394862.1:c.308C>G, NM_001394862.1:c.308C>A, NT_187658.1:g.462904G>A, NT_187658.1:g.462904G>C, NT_187658.1:g.462904G>T, NP_006240.4:p.Pro103Leu, NP_006240.4:p.Pro103Arg, NP_006240.4:p.Pro103His, NP_001381791.1:p.Pro103Leu, NP_001381791.1:p.Pro103Arg, NP_001381791.1:p.Pro103His

Select item 147670769711.

rs1476707697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:11268051 (GRCh38)
12:11420985 (GRCh37)
Canonical SPDI:: NC_000012.12:11268050:G:C
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.11268051G>C, NC_000012.11:g.11420985G>C, NG_013305.2:g.6657C>G, NM_006249.5:c.198C>G, NM_006249.4:c.198C>G, NM_001394862.1:c.198C>G, NT_187658.1:g.463014G>C, NP_006240.4:p.Asn66Lys, NP_001381791.1:p.Asn66Lys

Select item 147446202412.

rs1474462024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:11268008 (GRCh38)
12:11420942 (GRCh37)
Canonical SPDI:: NC_000012.12:11268007:G:A
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.11268008G>A, NC_000012.11:g.11420942G>A, NG_013305.2:g.6700C>T, NM_006249.5:c.241C>T, NM_006249.4:c.241C>T, NM_001394862.1:c.241C>T, NT_187658.1:g.462971G>A, NP_006240.4:p.Pro81Ser, NP_001381791.1:p.Pro81Ser

Select item 147105840213.

rs1471058402 [Homo sapiens]

Variant type:: DEL
Alleles:: CGAGGCGGGGGACC>- [Show Flanks]
Chromosome:: 12:11267776 (GRCh38)
12:11420710 (GRCh37)
Canonical SPDI:: NC_000012.12:11267775:CGAGGCGGGGGACC:
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11267776_11267789del, NC_000012.11:g.11420710_11420723del, NG_013305.2:g.6919_6932del, NM_006249.5:c.460_473del, NM_006249.4:c.460_473del, NM_001394862.1:c.460_473del, NT_187658.1:g.462739_462752del, NP_006240.4:p.Gly154fs, NP_001381791.1:p.Gly154fs

Select item 146740695614.

rs1467406956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:11265988 (GRCh38)
12:11418921 (GRCh37)
Canonical SPDI:: NC_000012.12:11265987:C:T
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000149/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.11265988C>T, NC_000012.11:g.11418921C>T, NG_013305.2:g.8720G>A, NM_006249.5:c.*59G>A, NM_006249.4:c.*59G>A, NM_001394862.1:c.*59G>A, NT_187658.1:g.460951C>T

Select item 146358502715.

rs1463585027 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:11268667 (GRCh38)
12:11421601 (GRCh37)
Canonical SPDI:: NC_000012.12:11268666:A:T
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.11268667A>T, NC_000012.11:g.11421601A>T, NG_013305.2:g.6041T>A, NM_006249.5:c.66T>A, NM_006249.4:c.66T>A, NM_001394862.1:c.66T>A, NT_187658.1:g.463630A>T, NP_006240.4:p.Asp22Glu, NP_001381791.1:p.Asp22Glu

Select item 146231548216.

rs1462315482 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:11267713 (GRCh38)
12:11420647 (GRCh37)
Canonical SPDI:: NC_000012.12:11267712:TG:
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11267713_11267714del, NC_000012.11:g.11420647_11420648del, NG_013305.2:g.6994_6995del, NM_006249.5:c.535_536del, NM_006249.4:c.535_536del, NM_001394862.1:c.535_536del, NT_187658.1:g.462676_462677del, NP_006240.4:p.His179fs, NP_001381791.1:p.His179fs

Select item 146228188917.

rs1462281889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:11267961 (GRCh38)
12:11420895 (GRCh37)
Canonical SPDI:: NC_000012.12:11267960:C:A,NC_000012.12:11267960:C:T
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.032958/538 (ALFA)
T=0.001137/19 (TOMMO)
T=0.003162/676 (GnomAD_exomes)
T=0.049349/144 (KOREAN)
HGVS:: NC_000012.12:g.11267961C>A, NC_000012.12:g.11267961C>T, NC_000012.11:g.11420895C>A, NC_000012.11:g.11420895C>T, NG_013305.2:g.6747G>T, NG_013305.2:g.6747G>A, NM_006249.5:c.288G>T, NM_006249.5:c.288G>A, NM_006249.4:c.288G>T, NM_006249.4:c.288G>A, NM_001394862.1:c.288G>T, NM_001394862.1:c.288G>A, NT_187658.1:g.462924C>A, NT_187658.1:g.462924C>T

Select item 145873672418.

rs1458736724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:11267310 (GRCh38)
12:11420243 (GRCh37)
Canonical SPDI:: NC_000012.12:11267309:T:C,NC_000012.12:11267309:T:G
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.11267310T>C, NC_000012.12:g.11267310T>G, NC_000012.11:g.11420243T>C, NC_000012.11:g.11420243T>G, NG_013305.2:g.7398A>G, NG_013305.2:g.7398A>C, NM_006249.5:c.813A>G, NM_006249.5:c.813A>C, NM_006249.4:c.813A>G, NM_006249.4:c.813A>C, NM_001394862.1:c.939A>G, NM_001394862.1:c.939A>C, NT_187658.1:g.462273T>C, NT_187658.1:g.462273T>G

Select item 145746459019.

rs1457464590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:11268040 (GRCh38)
12:11420974 (GRCh37)
Canonical SPDI:: NC_000012.12:11268039:C:A
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11268040C>A, NC_000012.11:g.11420974C>A, NG_013305.2:g.6668G>T, NM_006249.5:c.209G>T, NM_006249.4:c.209G>T, NM_001394862.1:c.209G>T, NT_187658.1:g.463003C>A, NP_006240.4:p.Gly70Val, NP_001381791.1:p.Gly70Val

Select item 145482908620.

rs1454829086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:11267722 (GRCh38)
12:11420656 (GRCh37)
Canonical SPDI:: NC_000012.12:11267721:G:A
Gene:: PRB3 (Varview), LOC107987435 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11267722G>A, NC_000012.11:g.11420656G>A, NG_013305.2:g.6986C>T, NM_006249.5:c.527C>T, NM_006249.4:c.527C>T, NM_001394862.1:c.527C>T, NT_187658.1:g.462685G>A, NP_006240.4:p.Pro176Leu, NP_001381791.1:p.Pro176Leu

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