SNP Links for Gene (Select 51050) - SNP

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Select item 14915065951.

rs1491506595 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:74850415 (GRCh38)
8:75762650 (GRCh37)
Canonical SPDI:: NC_000008.11:74850412:AGAG:AG
Gene:: PI15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000008.11:g.74850413AG[1], NC_000008.10:g.75762648AG[1], NM_015886.5:c.*1160AG[1], NM_015886.4:c.*1160AG[1], NM_015886.3:c.*1160AG[1], NM_001324403.2:c.*1160AG[1], NM_001324403.1:c.*1160AG[1]

Select item 14913924302.

rs1491392430 has merged into rs55730814 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGATGATTCACATTCTC>-,CTGATGATTCACATTCTCCTGATGATTCACATTCTC [Show Flanks]
Chromosome:: 8:74834888 (GRCh38)
8:75747123 (GRCh37)
Canonical SPDI:: NC_000008.11:74834860:CACATTCTCCTGATGATTCACATTCTCCTGATGATTCACATTCTC:CACATTCTCCTGATGATTCACATTCTC,NC_000008.11:74834860:CACATTCTCCTGATGATTCACATTCTCCTGATGATTCACATTCTC:CACATTCTCCTGATGATTCACATTCTCCTGATGATTCACATTCTCCTGATGATTCACATTCTC
Gene:: PI15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACATTCTCCTGATGATTCACATTCTC=0.269679/2823 (ALFA)
-=0.033053/554 (TOMMO)
-=0.044214/81 (Korea1K)
-=0.15/6 (GENOME_DK)
-=0.35837/1795 (1000Genomes)
-=0.371667/223 (NorthernSweden)
-=0.390782/390 (GoNL)
-=0.39644/1470 (TWINSUK)
-=0.408926/1576 (ALSPAC)
-=0.425853/112719 (TOPMED)
HGVS:: NC_000008.11:g.74834870CTGATGATTCACATTCTC[1], NC_000008.11:g.74834870CTGATGATTCACATTCTC[3], NC_000008.10:g.75747105CTGATGATTCACATTCTC[1], NC_000008.10:g.75747105CTGATGATTCACATTCTC[3]

Select item 14912328883.

rs1491232888 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 8:74834860 (GRCh38)
8:75747095 (GRCh37)
Canonical SPDI:: NC_000008.11:74834859:GC:
Gene:: PI15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000015/2 (GnomAD)
HGVS:: NC_000008.11:g.74834860_74834861del, NC_000008.10:g.75747095_75747096del

Select item 14911564324.

rs1491156432 has merged into rs35189713 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 8:74853845 (GRCh38)
8:75766080 (GRCh37)
Canonical SPDI:: NC_000008.11:74853836:TTTTTTTTTT:TTTTTTTT,NC_000008.11:74853836:TTTTTTTTTT:TTTTTTTTT,NC_000008.11:74853836:TTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:74853836:TTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:74853836:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:74853836:TTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: PI15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00045/2 (Estonian)
-=0.00273/5 (Korea1K)
T=0.025/1 (GENOME_DK)
TT=0.21304/49 (1000Genomes)
HGVS:: NC_000008.11:g.74853845_74853846del, NC_000008.11:g.74853846del, NC_000008.11:g.74853846dup, NC_000008.11:g.74853845_74853846dup, NC_000008.11:g.74853844_74853846dup, NC_000008.11:g.74853843_74853846dup, NC_000008.10:g.75766080_75766081del, NC_000008.10:g.75766081del, NC_000008.10:g.75766081dup, NC_000008.10:g.75766080_75766081dup, NC_000008.10:g.75766079_75766081dup, NC_000008.10:g.75766078_75766081dup, NM_015886.5:c.*4592_*4593del, NM_015886.5:c.*4593del, NM_015886.5:c.*4593dup, NM_015886.5:c.*4592_*4593dup, NM_015886.5:c.*4591_*4593dup, NM_015886.5:c.*4590_*4593dup, NM_015886.4:c.*4592_*4593del, NM_015886.4:c.*4593del, NM_015886.4:c.*4593dup, NM_015886.4:c.*4592_*4593dup, NM_015886.4:c.*4591_*4593dup, NM_015886.4:c.*4590_*4593dup, NM_015886.3:c.*4592_*4593del, NM_015886.3:c.*4593del, NM_015886.3:c.*4593dup, NM_015886.3:c.*4592_*4593dup, NM_015886.3:c.*4591_*4593dup, NM_015886.3:c.*4590_*4593dup, NM_001324403.2:c.*4592_*4593del, NM_001324403.2:c.*4593del, NM_001324403.2:c.*4593dup, NM_001324403.2:c.*4592_*4593dup, NM_001324403.2:c.*4591_*4593dup, NM_001324403.2:c.*4590_*4593dup, NM_001324403.1:c.*4592_*4593del, NM_001324403.1:c.*4593del, NM_001324403.1:c.*4593dup, NM_001324403.1:c.*4592_*4593dup, NM_001324403.1:c.*4591_*4593dup, NM_001324403.1:c.*4590_*4593dup

Select item 14908488075.

rs1490848807 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:74845407 (GRCh38)
8:75757642 (GRCh37)
Canonical SPDI:: NC_000008.11:74845406:T:C
Gene:: PI15 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.74845407T>C, NC_000008.10:g.75757642T>C, NM_015886.5:c.551T>C, NM_015886.4:c.551T>C, NM_015886.3:c.551T>C, NM_001324403.2:c.551T>C, NM_001324403.1:c.551T>C, NP_056970.1:p.Ile184Thr, NP_001311332.1:p.Ile184Thr

Select item 14908246916.

rs1490824691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:74828624 (GRCh38)
8:75740859 (GRCh37)
Canonical SPDI:: NC_000008.11:74828623:C:T
Gene:: PI15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.74828624C>T, NC_000008.10:g.75740859C>T

Select item 14907126887.

rs1490712688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:74826322 (GRCh38)
8:75738557 (GRCh37)
Canonical SPDI:: NC_000008.11:74826321:G:A
Gene:: PI15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.74826322G>A, NC_000008.10:g.75738557G>A

Select item 14906510158.

rs1490651015 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 8:74829768 (GRCh38)
8:75742003 (GRCh37)
Canonical SPDI:: NC_000008.11:74829763:GAAGAAG:GAAG
Gene:: PI15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAG=0.000198/3 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.00067/3 (Estonian)
HGVS:: NC_000008.11:g.74829765AAG[1], NC_000008.10:g.75742000AAG[1]

Select item 14906472129.

rs1490647212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:74841638 (GRCh38)
8:75753873 (GRCh37)
Canonical SPDI:: NC_000008.11:74841637:T:A
Gene:: PI15 (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_000008.11:g.74841638T>A, NC_000008.10:g.75753873T>A

Select item 149060863510.

rs1490608635 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:74825643 (GRCh38)
8:75737878 (GRCh37)
Canonical SPDI:: NC_000008.11:74825642:T:C
Gene:: PI15 (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_000008.11:g.74825643T>C, NC_000008.10:g.75737878T>C

Select item 149059544811.

rs1490595448 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:74840610 (GRCh38)
8:75752845 (GRCh37)
Canonical SPDI:: NC_000008.11:74840609:C:
Gene:: PI15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.74840610del, NC_000008.10:g.75752845del

Select item 149037668812.

rs1490376688 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:74848733 (GRCh38)
8:75760968 (GRCh37)
Canonical SPDI:: NC_000008.11:74848732:A:T
Gene:: PI15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.74848733A>T, NC_000008.10:g.75760968A>T

Select item 149029907013.

rs1490299070 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:74826512 (GRCh38)
8:75738747 (GRCh37)
Canonical SPDI:: NC_000008.11:74826511:T:C
Gene:: PI15 (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_000008.11:g.74826512T>C, NC_000008.10:g.75738747T>C

Select item 149022985814.

rs1490229858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:74847381 (GRCh38)
8:75759616 (GRCh37)
Canonical SPDI:: NC_000008.11:74847380:G:A,NC_000008.11:74847380:G:T
Gene:: PI15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.74847381G>A, NC_000008.11:g.74847381G>T, NC_000008.10:g.75759616G>A, NC_000008.10:g.75759616G>T

Select item 149021426715.

rs1490214267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:74849743 (GRCh38)
8:75761978 (GRCh37)
Canonical SPDI:: NC_000008.11:74849742:G:A,NC_000008.11:74849742:G:C
Gene:: PI15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.74849743G>A, NC_000008.11:g.74849743G>C, NC_000008.10:g.75761978G>A, NC_000008.10:g.75761978G>C, NM_015886.5:c.*490G>A, NM_015886.5:c.*490G>C, NM_015886.4:c.*490G>A, NM_015886.4:c.*490G>C, NM_015886.3:c.*490G>A, NM_015886.3:c.*490G>C, NM_001324403.2:c.*490G>A, NM_001324403.2:c.*490G>C, NM_001324403.1:c.*490G>A, NM_001324403.1:c.*490G>C

Select item 149013340616.

rs1490133406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:74851912 (GRCh38)
8:75764147 (GRCh37)
Canonical SPDI:: NC_000008.11:74851911:G:A
Gene:: PI15 (Varview)
Functional Consequence:: 3_prime_UTR_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_000008.11:g.74851912G>A, NC_000008.10:g.75764147G>A, NM_015886.5:c.*2659G>A, NM_015886.4:c.*2659G>A, NM_015886.3:c.*2659G>A, NM_001324403.2:c.*2659G>A, NM_001324403.1:c.*2659G>A

Select item 149009462817.

rs1490094628 [Homo sapiens]

Variant type:: DEL
Alleles:: GAGA>- [Show Flanks]
Chromosome:: 8:74825561 (GRCh38)
8:75737796 (GRCh37)
Canonical SPDI:: NC_000008.11:74825560:GAGA:
Gene:: PI15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00005/7 (GnomAD)
HGVS:: NC_000008.11:g.74825561_74825564del, NC_000008.10:g.75737796_75737799del

Select item 148990505418.

rs1489905054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:74834824 (GRCh38)
8:75747059 (GRCh37)
Canonical SPDI:: NC_000008.11:74834823:T:C
Gene:: PI15 (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_000008.11:g.74834824T>C, NC_000008.10:g.75747059T>C

Select item 148983335719.

rs1489833357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:74831099 (GRCh38)
8:75743334 (GRCh37)
Canonical SPDI:: NC_000008.11:74831098:C:T
Gene:: PI15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000086/12 (GnomAD)
T=0.000212/4 (TOMMO)
HGVS:: NC_000008.11:g.74831099C>T, NC_000008.10:g.75743334C>T

Select item 148983106020.

rs1489831060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:74842211 (GRCh38)
8:75754446 (GRCh37)
Canonical SPDI:: NC_000008.11:74842210:A:C
Gene:: PI15 (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_000008.11:g.74842211A>C, NC_000008.10:g.75754446A>C

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