SNP Links for Gene (Select 128859) - SNP

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Items: 1 to 20 of 3944

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Select item 14911751211.

rs1491175121 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:33033538 (GRCh38)
20:31621345 (GRCh37)
Canonical SPDI:: NC_000020.11:33033538:T:TT
Gene:: BPIFB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33033539dup, NC_000020.10:g.31621345dup

Select item 14909545192.

rs1490954519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33035618 (GRCh38)
20:31623424 (GRCh37)
Canonical SPDI:: NC_000020.11:33035617:C:T
Gene:: BPIFB6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.33035618C>T, NC_000020.10:g.31623424C>T, NM_174897.2:c.523C>T, XM_017027663.1:c.571C>T, NP_777557.1:p.Pro175Ser, XP_016883152.1:p.Pro191Ser

Select item 14909461983.

rs1490946198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33044387 (GRCh38)
20:31632193 (GRCh37)
Canonical SPDI:: NC_000020.11:33044386:C:T
Gene:: BPIFB6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33044387C>T, NC_000020.10:g.31632193C>T

Select item 14909157884.

rs1490915788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:33043499 (GRCh38)
20:31631305 (GRCh37)
Canonical SPDI:: NC_000020.11:33043498:C:A
Gene:: BPIFB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.33043499C>A, NC_000020.10:g.31631305C>A

Select item 14908523025.

rs1490852302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33029885 (GRCh38)
20:31617691 (GRCh37)
Canonical SPDI:: NC_000020.11:33029884:C:T
Gene:: BPIFB6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000020.11:g.33029885C>T, NC_000020.10:g.31617691C>T

Select item 14905950446.

rs1490595044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:33039576 (GRCh38)
20:31627382 (GRCh37)
Canonical SPDI:: NC_000020.11:33039575:T:G
Gene:: BPIFB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.33039576T>G, NC_000020.10:g.31627382T>G

Select item 14904983257.

rs1490498325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:33037411 (GRCh38)
20:31625217 (GRCh37)
Canonical SPDI:: NC_000020.11:33037410:C:G,NC_000020.11:33037410:C:T
Gene:: BPIFB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33037411C>G, NC_000020.11:g.33037411C>T, NC_000020.10:g.31625217C>G, NC_000020.10:g.31625217C>T

Select item 14902772168.

rs1490277216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33036850 (GRCh38)
20:31624656 (GRCh37)
Canonical SPDI:: NC_000020.11:33036849:G:A
Gene:: BPIFB6 (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.33036850G>A, NC_000020.10:g.31624656G>A

Select item 14901043889.

rs1490104388 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 20:33040621 (GRCh38)
20:31628427 (GRCh37)
Canonical SPDI:: NC_000020.11:33040620:TTT:TT
Gene:: BPIFB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000020.11:g.33040623del, NC_000020.10:g.31628429del

Select item 149003647910.

rs1490036479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33030260 (GRCh38)
20:31618066 (GRCh37)
Canonical SPDI:: NC_000020.11:33030259:G:A
Gene:: BPIFB6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.33030260G>A, NC_000020.10:g.31618066G>A

Select item 148993687111.

rs1489936871 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:33044369 (GRCh38)
20:31632175 (GRCh37)
Canonical SPDI:: NC_000020.11:33044368:T:C
Gene:: BPIFB6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.33044369T>C, NC_000020.10:g.31632175T>C

Select item 148983051012.

rs1489830510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33037592 (GRCh38)
20:31625398 (GRCh37)
Canonical SPDI:: NC_000020.11:33037591:A:G
Gene:: BPIFB6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.33037592A>G, NC_000020.10:g.31625398A>G, NM_174897.2:c.700A>G, XM_017027663.1:c.748A>G, NP_777557.1:p.Ile234Val, XP_016883152.1:p.Ile250Val

Select item 148982887013.

rs1489828870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 20:33029813 (GRCh38)
20:31617619 (GRCh37)
Canonical SPDI:: NC_000020.11:33029812:G:A,NC_000020.11:33029812:G:C,NC_000020.11:33029812:G:T
Gene:: BPIFB6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.33029813G>A, NC_000020.11:g.33029813G>C, NC_000020.11:g.33029813G>T, NC_000020.10:g.31617619G>A, NC_000020.10:g.31617619G>C, NC_000020.10:g.31617619G>T

Select item 148924367614.

rs1489243676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:33042787 (GRCh38)
20:31630593 (GRCh37)
Canonical SPDI:: NC_000020.11:33042786:G:A,NC_000020.11:33042786:G:C
Gene:: BPIFB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33042787G>A, NC_000020.11:g.33042787G>C, NC_000020.10:g.31630593G>A, NC_000020.10:g.31630593G>C

Select item 148911938015.

rs1489119380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:33043468 (GRCh38)
20:31631274 (GRCh37)
Canonical SPDI:: NC_000020.11:33043467:G:A,NC_000020.11:33043467:G:C
Gene:: BPIFB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000354/6 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.33043468G>A, NC_000020.11:g.33043468G>C, NC_000020.10:g.31631274G>A, NC_000020.10:g.31631274G>C

Select item 148902762016.

rs1489027620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:33041346 (GRCh38)
20:31629152 (GRCh37)
Canonical SPDI:: NC_000020.11:33041345:T:A
Gene:: BPIFB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000020.11:g.33041346T>A, NC_000020.10:g.31629152T>A

Select item 148898669517.

rs1488986695 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33038954 (GRCh38)
20:31626760 (GRCh37)
Canonical SPDI:: NC_000020.11:33038953:A:G
Gene:: BPIFB6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33038954A>G, NC_000020.10:g.31626760A>G, NM_174897.2:c.892A>G, XM_017027663.1:c.940A>G, NP_777557.1:p.Ile298Val, XP_016883152.1:p.Ile314Val

Select item 148885431118.

rs1488854311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33031745 (GRCh38)
20:31619551 (GRCh37)
Canonical SPDI:: NC_000020.11:33031744:G:A
Gene:: BPIFB6 (Varview)
Functional Consequence:: splice_donor_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.33031745G>A, NC_000020.10:g.31619551G>A, XM_017027663.1:c.98G>A, XP_016883152.1:p.Arg33His

Select item 148865737619.

rs1488657376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33041593 (GRCh38)
20:31629399 (GRCh37)
Canonical SPDI:: NC_000020.11:33041592:A:G
Gene:: BPIFB6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33041593A>G, NC_000020.10:g.31629399A>G

Select item 148832133720.

rs1488321337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:33042015 (GRCh38)
20:31629821 (GRCh37)
Canonical SPDI:: NC_000020.11:33042014:T:G
Gene:: BPIFB6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.33042015T>G, NC_000020.10:g.31629821T>G, NM_174897.2:c.1188T>G, XM_017027663.1:c.1236T>G, NP_777557.1:p.Asn396Lys, XP_016883152.1:p.Asn412Lys

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