SNP Links for Gene (Select 5301) - SNP

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Links from Gene

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Select item 14898633351.

rs1489863335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:69920646 (GRCh38)
1:70386329 (GRCh37)
Canonical SPDI:: NC_000001.11:69920645:T:G
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.69920646T>G, NC_000001.10:g.70386329T>G

Select item 14894972082.

rs1489497208 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAGT>- [Show Flanks]
Chromosome:: 1:69920202 (GRCh38)
1:70385885 (GRCh37)
Canonical SPDI:: NC_000001.11:69920200:TGTAGT:T
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.00005/7 (GnomAD)
-=0.007432/125 (TOMMO)
-=0.008734/16 (Korea1K)
HGVS:: NC_000001.11:g.69920202_69920206del, NC_000001.10:g.70385885_70385889del, NR_023916.1:n.881_885del, NM_006222.1:c.*543_*547del

Select item 14879941293.

rs1487994129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:69920010 (GRCh38)
1:70385693 (GRCh37)
Canonical SPDI:: NC_000001.11:69920009:C:T
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.69920010C>T, NC_000001.10:g.70385693C>T, NR_023916.1:n.689C>T, NM_006222.1:c.*351C>T

Select item 14876849564.

rs1487684956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:69918780 (GRCh38)
1:70384463 (GRCh37)
Canonical SPDI:: NC_000001.11:69918779:G:T
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.69918780G>T, NC_000001.10:g.70384463G>T

Select item 14848369975.

rs1484836997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:69918741 (GRCh38)
1:70384424 (GRCh37)
Canonical SPDI:: NC_000001.11:69918740:A:T
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.69918741A>T, NC_000001.10:g.70384424A>T

Select item 14844920416.

rs1484492041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:69917326 (GRCh38)
1:70383009 (GRCh37)
Canonical SPDI:: NC_000001.11:69917325:A:G
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.69917326A>G, NC_000001.10:g.70383009A>G

Select item 14837201247.

rs1483720124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:69919383 (GRCh38)
1:70385066 (GRCh37)
Canonical SPDI:: NC_000001.11:69919382:T:A,NC_000001.11:69919382:T:C,NC_000001.11:69919382:T:G
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.69919383T>A, NC_000001.11:g.69919383T>C, NC_000001.11:g.69919383T>G, NC_000001.10:g.70385066T>A, NC_000001.10:g.70385066T>C, NC_000001.10:g.70385066T>G, NR_023916.1:n.62T>A, NR_023916.1:n.62T>C, NR_023916.1:n.62T>G, NM_006222.1:c.27T>A, NM_006222.1:c.27T>C, NM_006222.1:c.27T>G

Select item 14835123018.

rs1483512301 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:69917842 (GRCh38)
1:70383525 (GRCh37)
Canonical SPDI:: NC_000001.11:69917841:T:C
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_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_000001.11:g.69917842T>C, NC_000001.10:g.70383525T>C

Select item 14834007819.

rs1483400781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:69918960 (GRCh38)
1:70384643 (GRCh37)
Canonical SPDI:: NC_000001.11:69918959:T:C
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_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.69918960T>C, NC_000001.10:g.70384643T>C

Select item 148292851810.

rs1482928518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:69920568 (GRCh38)
1:70386251 (GRCh37)
Canonical SPDI:: NC_000001.11:69920567:A:G
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.69920568A>G, NC_000001.10:g.70386251A>G

Select item 148101027911.

rs1481010279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:69918301 (GRCh38)
1:70383984 (GRCh37)
Canonical SPDI:: NC_000001.11:69918300:C:G
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.69918301C>G, NC_000001.10:g.70383984C>G

Select item 148090662412.

rs1480906624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:69919816 (GRCh38)
1:70385499 (GRCh37)
Canonical SPDI:: NC_000001.11:69919815:C:A,NC_000001.11:69919815:C:G
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.69919816C>A, NC_000001.11:g.69919816C>G, NC_000001.10:g.70385499C>A, NC_000001.10:g.70385499C>G, NR_023916.1:n.495C>A, NR_023916.1:n.495C>G, NM_006222.1:c.*157C>A, NM_006222.1:c.*157C>G

Select item 147714866813.

rs1477148668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:69919712 (GRCh38)
1:70385395 (GRCh37)
Canonical SPDI:: NC_000001.11:69919711:C:G
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.69919712C>G, NC_000001.10:g.70385395C>G, NR_023916.1:n.391C>G, NM_006222.1:c.*53C>G

Select item 147681628814.

rs1476816288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:69919023 (GRCh38)
1:70384706 (GRCh37)
Canonical SPDI:: NC_000001.11:69919022:G:T
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.69919023G>T, NC_000001.10:g.70384706G>T

Select item 147649416415.

rs1476494164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:69920625 (GRCh38)
1:70386308 (GRCh37)
Canonical SPDI:: NC_000001.11:69920624:C:G,NC_000001.11:69920624:C:T
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.69920625C>G, NC_000001.11:g.69920625C>T, NC_000001.10:g.70386308C>G, NC_000001.10:g.70386308C>T

Select item 147545549016.

rs1475455490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:69919341 (GRCh38)
1:70385024 (GRCh37)
Canonical SPDI:: NC_000001.11:69919340:A:C
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,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.69919341A>C, NC_000001.10:g.70385024A>C, NR_023916.1:n.20A>C, NM_006222.1:c.-16A>C

Select item 147488988317.

rs1474889883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:69917542 (GRCh38)
1:70383225 (GRCh37)
Canonical SPDI:: NC_000001.11:69917541:T:C
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.69917542T>C, NC_000001.10:g.70383225T>C

Select item 147481850218.

rs1474818502 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:69918666 (GRCh38)
1:70384349 (GRCh37)
Canonical SPDI:: NC_000001.11:69918665:A:G
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.69918666A>G, NC_000001.10:g.70384349A>G

Select item 147336985719.

rs1473369857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:69919459 (GRCh38)
1:70385142 (GRCh37)
Canonical SPDI:: NC_000001.11:69919458:G:T
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,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_000001.11:g.69919459G>T, NC_000001.10:g.70385142G>T, NR_023916.1:n.138G>T, NM_006222.1:c.103G>T

Select item 147336308720.

rs1473363087 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGCTTACT [Show Flanks]
Chromosome:: 1:69918427 (GRCh38)
1:70384111 (GRCh37)
Canonical SPDI:: NC_000001.11:69918427:T:TATGCTTACT
Gene:: PIN1P1 (Varview), LRRC7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TATGCTTACT=0./0 (ALFA)
TATGCTTAC=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.69918428_69918429insATGCTTACT, NC_000001.10:g.70384111_70384112insATGCTTACT