SNP Links for Gene (Select 441897) - SNP

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Select item 14914033191.

rs1491403319 has merged into rs35345227 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCCC [Show Flanks]
Chromosome:: 1:111391538 (GRCh38)
1:111934160 (GRCh37)
Canonical SPDI:: NC_000001.11:111391535:CCCC:CC,NC_000001.11:111391535:CCCC:CCC,NC_000001.11:111391535:CCCC:CCCCC,NC_000001.11:111391535:CCCC:CCCCCC,NC_000001.11:111391535:CCCC:CCCCCCC,NC_000001.11:111391535:CCCC:CCCCCCCCC
Gene:: PGBP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
HGVS:: NC_000001.11:g.111391538_111391539del, NC_000001.11:g.111391539del, NC_000001.11:g.111391539dup, NC_000001.11:g.111391538_111391539dup, NC_000001.11:g.111391537_111391539dup, NC_000001.11:g.111391539_111391540insCCCCC, NC_000001.10:g.111934160_111934161del, NC_000001.10:g.111934161del, NC_000001.10:g.111934161dup, NC_000001.10:g.111934160_111934161dup, NC_000001.10:g.111934159_111934161dup, NC_000001.10:g.111934161_111934162insCCCCC

Select item 14904923392.

rs1490492339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:111385382 (GRCh38)
1:111928004 (GRCh37)
Canonical SPDI:: NC_000001.11:111385381:G:A
Gene:: PGBP (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_000001.11:g.111385382G>A, NC_000001.10:g.111928004G>A

Select item 14904272553.

rs1490427255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:111385866 (GRCh38)
1:111928488 (GRCh37)
Canonical SPDI:: NC_000001.11:111385865:G:A
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.111385866G>A, NC_000001.10:g.111928488G>A

Select item 14900583054.

rs1490058305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:111387404 (GRCh38)
1:111930026 (GRCh37)
Canonical SPDI:: NC_000001.11:111387403:A:C
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111387404A>C, NC_000001.10:g.111930026A>C

Select item 14900023425.

rs1490002342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:111385956 (GRCh38)
1:111928578 (GRCh37)
Canonical SPDI:: NC_000001.11:111385955:G:C
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111385956G>C, NC_000001.10:g.111928578G>C

Select item 14896928196.

rs1489692819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111384987 (GRCh38)
1:111927609 (GRCh37)
Canonical SPDI:: NC_000001.11:111384986:T:C
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111384987T>C, NC_000001.10:g.111927609T>C

Select item 14893452547.

rs1489345254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:111387815 (GRCh38)
1:111930437 (GRCh37)
Canonical SPDI:: NC_000001.11:111387814:T:G
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111387815T>G, NC_000001.10:g.111930437T>G

Select item 14877049088.

rs1487704908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111384677 (GRCh38)
1:111927299 (GRCh37)
Canonical SPDI:: NC_000001.11:111384676:C:T
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.111384677C>T, NC_000001.10:g.111927299C>T

Select item 14876341919.

rs1487634191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111387828 (GRCh38)
1:111930450 (GRCh37)
Canonical SPDI:: NC_000001.11:111387827:T:C
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111387828T>C, NC_000001.10:g.111930450T>C

Select item 148612168810.

rs1486121688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111387771 (GRCh38)
1:111930393 (GRCh37)
Canonical SPDI:: NC_000001.11:111387770:T:C
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000001.11:g.111387771T>C, NC_000001.10:g.111930393T>C

Select item 148607014011.

rs1486070140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:111385578 (GRCh38)
1:111928200 (GRCh37)
Canonical SPDI:: NC_000001.11:111385577:G:A,NC_000001.11:111385577:G:C
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.111385578G>A, NC_000001.11:g.111385578G>C, NC_000001.10:g.111928200G>A, NC_000001.10:g.111928200G>C

Select item 148548526912.

rs1485485269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111390466 (GRCh38)
1:111933088 (GRCh37)
Canonical SPDI:: NC_000001.11:111390465:C:T
Gene:: PGBP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.111390466C>T, NC_000001.10:g.111933088C>T

Select item 148449385313.

rs1484493853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:111388500 (GRCh38)
1:111931122 (GRCh37)
Canonical SPDI:: NC_000001.11:111388499:G:T
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000001.11:g.111388500G>T, NC_000001.10:g.111931122G>T

Select item 148386860414.

rs1483868604 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:111387763 (GRCh38)
1:111930385 (GRCh37)
Canonical SPDI:: NC_000001.11:111387761:TCT:T
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00339/6 (Korea1K)
HGVS:: NC_000001.11:g.111387763_111387764del, NC_000001.10:g.111930385_111930386del

Select item 148321848315.

rs1483218483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:111388553 (GRCh38)
1:111931175 (GRCh37)
Canonical SPDI:: NC_000001.11:111388552:G:A,NC_000001.11:111388552:G:C
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.111388553G>A, NC_000001.11:g.111388553G>C, NC_000001.10:g.111931175G>A, NC_000001.10:g.111931175G>C

Select item 148319789416.

rs1483197894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:111390950 (GRCh38)
1:111933572 (GRCh37)
Canonical SPDI:: NC_000001.11:111390949:A:G,NC_000001.11:111390949:A:T
Gene:: PGBP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111390950A>G, NC_000001.11:g.111390950A>T, NC_000001.10:g.111933572A>G, NC_000001.10:g.111933572A>T

Select item 148300778717.

rs1483007787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:111384945 (GRCh38)
1:111927567 (GRCh37)
Canonical SPDI:: NC_000001.11:111384944:G:C
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.111384945G>C, NC_000001.10:g.111927567G>C

Select item 148279112918.

rs1482791129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:111386070 (GRCh38)
1:111928692 (GRCh37)
Canonical SPDI:: NC_000001.11:111386069:A:G
Gene:: PGBP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111386070A>G, NC_000001.10:g.111928692A>G

Select item 148209447219.

rs1482094472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111391432 (GRCh38)
1:111934054 (GRCh37)
Canonical SPDI:: NC_000001.11:111391431:T:C
Gene:: PGBP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.004673/1 (Vietnamese)
HGVS:: NC_000001.11:g.111391432T>C, NC_000001.10:g.111934054T>C

Select item 148205070720.

rs1482050707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:111390953 (GRCh38)
1:111933575 (GRCh37)
Canonical SPDI:: NC_000001.11:111390952:C:G
Gene:: PGBP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000001.11:g.111390953C>G, NC_000001.10:g.111933575C>G

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