SNP Links for Gene (Select 359710) - SNP

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Items: 1 to 20 of 5120

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Select item 14908143461.

rs1490814346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:33064846 (GRCh38)
20:31652652 (GRCh37)
Canonical SPDI:: NC_000020.11:33064845:G:C
Gene:: BPIFB3 (Varview)
Functional Consequence:: splice_donor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.33064846G>C, NC_000020.10:g.31652652G>C

Select item 14906819232.

rs1490681923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:33063932 (GRCh38)
20:31651738 (GRCh37)
Canonical SPDI:: NC_000020.11:33063931:G:C
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33063932G>C, NC_000020.10:g.31651738G>C

Select item 14905612333.

rs1490561233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:33070601 (GRCh38)
20:31658407 (GRCh37)
Canonical SPDI:: NC_000020.11:33070600:C:G
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.33070601C>G, NC_000020.10:g.31658407C>G

Select item 14904306404.

rs1490430640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33072803 (GRCh38)
20:31660609 (GRCh37)
Canonical SPDI:: NC_000020.11:33072802:C:T
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33072803C>T, NC_000020.10:g.31660609C>T

Select item 14902261515.

rs1490226151 [Homo sapiens]

Variant type:: SNV:
Alleles:: CTCA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14902038386.

rs1490203838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:33073266 (GRCh38)
20:31661072 (GRCh37)
Canonical SPDI:: NC_000020.11:33073265:G:T
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.33073266G>T, NC_000020.10:g.31661072G>T

Select item 14901816737.

rs1490181673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33073713 (GRCh38)
20:31661519 (GRCh37)
Canonical SPDI:: NC_000020.11:33073712:G:A
Gene:: BPIFB3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.33073713G>A, NC_000020.10:g.31661519G>A, NM_182658.5:c.*108G>A, NM_182658.3:c.*108G>A, NM_001376932.3:c.*108G>A, NM_001376932.1:c.*108G>A

Select item 14900643318.

rs1490064331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:33073585 (GRCh38)
20:31661391 (GRCh37)
Canonical SPDI:: NC_000020.11:33073584:G:T
Gene:: BPIFB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000020.11:g.33073585G>T, NC_000020.10:g.31661391G>T, NM_182658.5:c.1399G>T, NM_182658.4:c.1411G>T, NM_182658.3:c.1411G>T, NM_182658.2:c.1411G>T, NM_182658.1:c.1411G>T, NM_001376932.3:c.1399G>T, NM_001376932.2:c.1399G>T, NM_001376932.1:c.1411G>T, NP_872599.2:p.Val467Leu, NP_001363861.2:p.Val467Leu

Select item 14900211849.

rs1490021184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:33057659 (GRCh38)
20:31645465 (GRCh37)
Canonical SPDI:: NC_000020.11:33057658:A:T
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.33057659A>T, NC_000020.10:g.31645465A>T

Select item 148983267210.

rs1489832672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:33065876 (GRCh38)
20:31653682 (GRCh37)
Canonical SPDI:: NC_000020.11:33065875:G:A,NC_000020.11:33065875:G:T
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33065876G>A, NC_000020.11:g.33065876G>T, NC_000020.10:g.31653682G>A, NC_000020.10:g.31653682G>T

Select item 148962928711.

rs1489629287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33058904 (GRCh38)
20:31646710 (GRCh37)
Canonical SPDI:: NC_000020.11:33058903:G:A
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.33058904G>A, NC_000020.10:g.31646710G>A

Select item 148960471512.

rs1489604715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33064840 (GRCh38)
20:31652646 (GRCh37)
Canonical SPDI:: NC_000020.11:33064839:G:A
Gene:: BPIFB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33064840G>A, NC_000020.10:g.31652646G>A, NM_182658.5:c.907G>A, NM_182658.4:c.919G>A, NM_182658.3:c.919G>A, NM_182658.2:c.919G>A, NM_182658.1:c.919G>A, NM_001376932.3:c.907G>A, NM_001376932.2:c.907G>A, NM_001376932.1:c.919G>A, NP_872599.2:p.Glu303Lys, NP_001363861.2:p.Glu303Lys

Select item 148937114713.

rs1489371147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:33058946 (GRCh38)
20:31646752 (GRCh37)
Canonical SPDI:: NC_000020.11:33058945:T:A,NC_000020.11:33058945:T:C
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.33058946T>A, NC_000020.11:g.33058946T>C, NC_000020.10:g.31646752T>A, NC_000020.10:g.31646752T>C

Select item 148936944114.

rs1489369441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33064482 (GRCh38)
20:31652288 (GRCh37)
Canonical SPDI:: NC_000020.11:33064481:G:A
Gene:: BPIFB3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.33064482G>A, NC_000020.10:g.31652288G>A, NM_182658.5:c.666G>A, NM_182658.4:c.678G>A, NM_182658.3:c.678G>A, NM_182658.2:c.678G>A, NM_182658.1:c.678G>A, NM_001376932.3:c.666G>A, NM_001376932.2:c.666G>A, NM_001376932.1:c.678G>A

Select item 148936182415.

rs1489361824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33070569 (GRCh38)
20:31658375 (GRCh37)
Canonical SPDI:: NC_000020.11:33070568:G:A
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.33070569G>A, NC_000020.10:g.31658375G>A

Select item 148901687616.

rs1489016876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:33067451 (GRCh38)
20:31655257 (GRCh37)
Canonical SPDI:: NC_000020.11:33067450:C:A
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33067451C>A, NC_000020.10:g.31655257C>A

Select item 148895249717.

rs1488952497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33068512 (GRCh38)
20:31656318 (GRCh37)
Canonical SPDI:: NC_000020.11:33068511:G:A
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.33068512G>A, NC_000020.10:g.31656318G>A

Select item 148893896818.

rs1488938968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33056183 (GRCh38)
20:31643989 (GRCh37)
Canonical SPDI:: NC_000020.11:33056182:A:G
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.33056183A>G, NC_000020.10:g.31643989A>G

Select item 148883523719.

rs1488835237 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:33065957 (GRCh38)
20:31653763 (GRCh37)
Canonical SPDI:: NC_000020.11:33065954:CTCT:CT
Gene:: BPIFB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33065955CT[1], NC_000020.10:g.31653761CT[1]

Select item 148874138820.

rs1488741388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33073927 (GRCh38)
20:31661733 (GRCh37)
Canonical SPDI:: NC_000020.11:33073926:G:A
Gene:: BPIFB3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33073927G>A, NC_000020.10:g.31661733G>A

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