SNP Links for Gene (Select 2831) - SNP

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Select item 14903560161.

rs1490356016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:52938576 (GRCh38)
8:53851136 (GRCh37)
Canonical SPDI:: NC_000008.11:52938575:T:C
Gene:: NPBWR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.52938576T>C, NC_000008.10:g.53851136T>C

Select item 14900819592.

rs1490081959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:52938775 (GRCh38)
8:53851335 (GRCh37)
Canonical SPDI:: NC_000008.11:52938774:A:T
Gene:: NPBWR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.52938775A>T, NC_000008.10:g.53851335A>T

Select item 14894869733.

rs1489486973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:52939752 (GRCh38)
8:53852312 (GRCh37)
Canonical SPDI:: NC_000008.11:52939751:G:C,NC_000008.11:52939751:G:T
Gene:: NPBWR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.52939752G>C, NC_000008.11:g.52939752G>T, NC_000008.10:g.53852312G>C, NC_000008.10:g.53852312G>T, NM_005285.5:c.-156G>C, NM_005285.5:c.-156G>T

Select item 14884798734.

rs1488479873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:52939157 (GRCh38)
8:53851717 (GRCh37)
Canonical SPDI:: NC_000008.11:52939156:A:G
Gene:: NPBWR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.52939157A>G, NC_000008.10:g.53851717A>G

Select item 14878552135.

rs1487855213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:52939377 (GRCh38)
8:53851937 (GRCh37)
Canonical SPDI:: NC_000008.11:52939376:G:T
Gene:: NPBWR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.52939377G>T, NC_000008.10:g.53851937G>T

Select item 14878236096.

rs1487823609 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAAAT [Show Flanks]
Chromosome:: 8:52938557 (GRCh38)
8:53851118 (GRCh37)
Canonical SPDI:: NC_000008.11:52938557::GAAAT
Gene:: NPBWR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAAAT=0./0 (ALFA)
GAAAT=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.52938557_52938558insGAAAT, NC_000008.10:g.53851117_53851118insGAAAT

Select item 14874965107.

rs1487496510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:52938088 (GRCh38)
8:53850648 (GRCh37)
Canonical SPDI:: NC_000008.11:52938087:T:C
Gene:: NPBWR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.52938088T>C, NC_000008.10:g.53850648T>C

Select item 14865482918.

rs1486548291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:52940952 (GRCh38)
8:53853512 (GRCh37)
Canonical SPDI:: NC_000008.11:52940951:C:T
Gene:: NPBWR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.52940952C>T, NC_000008.10:g.53853512C>T, NM_005285.5:c.*58C>T, NM_005285.4:c.*58C>T

Select item 14852804019.

rs1485280401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:52941016 (GRCh38)
8:53853576 (GRCh37)
Canonical SPDI:: NC_000008.11:52941015:T:C
Gene:: NPBWR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.52941016T>C, NC_000008.10:g.53853576T>C, NM_005285.5:c.*122T>C, NM_005285.4:c.*122T>C

Select item 148517484210.

rs1485174842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:52939916 (GRCh38)
8:53852476 (GRCh37)
Canonical SPDI:: NC_000008.11:52939915:C:A
Gene:: NPBWR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.52939916C>A, NC_000008.10:g.53852476C>A, NM_005285.5:c.9C>A, NM_005285.4:c.9C>A, NM_005285.3:c.9C>A, NP_005276.2:p.Asn3Lys

Select item 148514074911.

rs1485140749 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:52939855 (GRCh38)
8:53852416 (GRCh37)
Canonical SPDI:: NC_000008.11:52939855:G:GG
Gene:: NPBWR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.52939856dup, NC_000008.10:g.53852416dup, NM_005285.5:c.-52dup

Select item 148506033212.

rs1485060332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:52940410 (GRCh38)
8:53852970 (GRCh37)
Canonical SPDI:: NC_000008.11:52940409:T:C
Gene:: NPBWR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.52940410T>C, NC_000008.10:g.53852970T>C, NM_005285.5:c.503T>C, NM_005285.4:c.503T>C, NM_005285.3:c.503T>C, NP_005276.2:p.Leu168Pro

Select item 148451475113.

rs1484514751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:52940451 (GRCh38)
8:53853011 (GRCh37)
Canonical SPDI:: NC_000008.11:52940450:G:A
Gene:: NPBWR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.52940451G>A, NC_000008.10:g.53853011G>A, NM_005285.5:c.544G>A, NM_005285.4:c.544G>A, NM_005285.3:c.544G>A, NP_005276.2:p.Glu182Lys

Select item 148330675814.

rs1483306758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:52939956 (GRCh38)
8:53852516 (GRCh37)
Canonical SPDI:: NC_000008.11:52939955:C:A,NC_000008.11:52939955:C:T
Gene:: NPBWR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.52939956C>A, NC_000008.11:g.52939956C>T, NC_000008.10:g.53852516C>A, NC_000008.10:g.53852516C>T, NM_005285.5:c.49C>A, NM_005285.5:c.49C>T, NM_005285.4:c.49C>A, NM_005285.4:c.49C>T, NM_005285.3:c.49C>A, NM_005285.3:c.49C>T, NP_005276.2:p.Pro17Thr, NP_005276.2:p.Pro17Ser

Select item 148321548315.

rs1483215483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:52939274 (GRCh38)
8:53851834 (GRCh37)
Canonical SPDI:: NC_000008.11:52939273:C:G,NC_000008.11:52939273:C:T
Gene:: NPBWR1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.52939274C>G, NC_000008.11:g.52939274C>T, NC_000008.10:g.53851834C>G, NC_000008.10:g.53851834C>T, NM_005285.5:c.-290C>G, NM_005285.5:c.-290C>T

Select item 148295574516.

rs1482955745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:52941296 (GRCh38)
8:53853856 (GRCh37)
Canonical SPDI:: NC_000008.11:52941295:C:A,NC_000008.11:52941295:C:G
Gene:: NPBWR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.52941296C>A, NC_000008.11:g.52941296C>G, NC_000008.10:g.53853856C>A, NC_000008.10:g.53853856C>G, NM_005285.5:c.*402C>A, NM_005285.5:c.*402C>G, NM_005285.4:c.*402C>A, NM_005285.4:c.*402C>G

Select item 148294435317.

rs1482944353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:52941168 (GRCh38)
8:53853728 (GRCh37)
Canonical SPDI:: NC_000008.11:52941167:G:A,NC_000008.11:52941167:G:C
Gene:: NPBWR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.52941168G>A, NC_000008.11:g.52941168G>C, NC_000008.10:g.53853728G>A, NC_000008.10:g.53853728G>C, NM_005285.5:c.*274G>A, NM_005285.5:c.*274G>C, NM_005285.4:c.*274G>A, NM_005285.4:c.*274G>C

Select item 148127464018.

rs1481274640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:52939382 (GRCh38)
8:53851942 (GRCh37)
Canonical SPDI:: NC_000008.11:52939381:C:T
Gene:: NPBWR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000008.11:g.52939382C>T, NC_000008.10:g.53851942C>T

Select item 148121769919.

rs1481217699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:52940904 (GRCh38)
8:53853464 (GRCh37)
Canonical SPDI:: NC_000008.11:52940903:C:T
Gene:: NPBWR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000008.11:g.52940904C>T, NC_000008.10:g.53853464C>T, NM_005285.5:c.*10C>T, NM_005285.4:c.*10C>T

Select item 147967321020.

rs1479673210 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>C
Chromosome:: no mapping
Canonical SPDI:

dbSNP

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