SNP Links for Gene (Select 9271) - SNP

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Select item 14915514711.

rs1491551471 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:130394856 (GRCh38)
12:130879401 (GRCh37)
Canonical SPDI:: NC_000012.12:130394855:GT:
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.130394856_130394857del, NC_000012.11:g.130879401_130879402del, NT_187589.1:g.75950_75951del

Select item 14914625722.

rs1491462572 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGTGTGTGTGT [Show Flanks]
Chromosome:: 12:130342156 (GRCh38)
12:130826702 (GRCh37)
Canonical SPDI:: NC_000012.12:130342156:TGTGTGTGTGT:TGTGTGTGTGTCTGTGTGTGTGT
Gene:: PIWIL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGTGTCTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000012.12:g.130342157_130342167TG[5]TCTGTGTGTGTGT[1], NC_000012.11:g.130826702_130826712TG[5]TCTGTGTGTGTGT[1], NT_187589.1:g.19082_19092TG[5]TCTGTGTGTGTGT[1]

Select item 14914205683.

rs1491420568 has merged into rs10578431 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 12:130394676 (GRCh38)
12:130879221 (GRCh37)
Canonical SPDI:: NC_000012.12:130394664:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:130394664:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:130394664:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:130394664:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:130394664:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:130394664:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:130394664:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.0737/369 (1000Genomes)
HGVS:: NC_000012.12:g.130394676_130394679del, NC_000012.12:g.130394677_130394679del, NC_000012.12:g.130394678_130394679del, NC_000012.12:g.130394679del, NC_000012.12:g.130394679dup, NC_000012.12:g.130394678_130394679dup, NC_000012.12:g.130394674_130394679dup, NC_000012.11:g.130879221_130879224del, NC_000012.11:g.130879222_130879224del, NC_000012.11:g.130879223_130879224del, NC_000012.11:g.130879224del, NC_000012.11:g.130879224dup, NC_000012.11:g.130879223_130879224dup, NC_000012.11:g.130879219_130879224dup, NT_187589.1:g.75772_75773dup, NT_187589.1:g.75772_75773del, NT_187589.1:g.75773del, NT_187589.1:g.75773dup, NT_187589.1:g.75771_75773dup, NT_187589.1:g.75770_75773dup, NT_187589.1:g.75766_75773dup

Select item 14912837854.

rs1491283785 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:130346001 (GRCh38)
12:130830546 (GRCh37)
Canonical SPDI:: NC_000012.12:130345999:CAC:C
Gene:: PIWIL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.130346001_130346002del, NC_000012.11:g.130830546_130830547del, NT_187589.1:g.22926_22927del

Select item 14912424825.

rs1491242482 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:130394664 (GRCh38)
12:130879209 (GRCh37)
Canonical SPDI:: NC_000012.12:130394663:AT:
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.130394664_130394665del, NC_000012.11:g.130879209_130879210del, NT_187589.1:g.75773dup, NT_187589.1:g.75760del

Select item 14910330346.

rs1491033034 has merged into rs11350549 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 12:130370257 (GRCh38)
12:130854802 (GRCh37)
Canonical SPDI:: NC_000012.12:130370244:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:130370244:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:130370244:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:130370244:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:130370244:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0.0064/34 (ALFA)
A=0.0138/24 (Korea1K)
A=0.1186/457 (ALSPAC)
A=0.1224/454 (TWINSUK)
A=0.1532/91 (NorthernSweden)
A=0.225/9 (GENOME_DK)
A=0.2355/235 (GoNL)
A=0.3882/1944 (1000Genomes)
HGVS:: NC_000012.12:g.130370257_130370258del, NC_000012.12:g.130370258del, NC_000012.12:g.130370258dup, NC_000012.12:g.130370257_130370258dup, NC_000012.12:g.130370250_130370258dup, NC_000012.11:g.130854802_130854803del, NC_000012.11:g.130854803del, NC_000012.11:g.130854803dup, NC_000012.11:g.130854802_130854803dup, NC_000012.11:g.130854795_130854803dup, NT_187589.1:g.47186dup, NT_187589.1:g.47186del, NT_187589.1:g.47185_47186dup, NT_187589.1:g.47184_47186dup, NT_187589.1:g.47177_47186dup

Select item 14910224927.

rs1491022492 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:130363635 (GRCh38)
12:130848180 (GRCh37)
Canonical SPDI:: NC_000012.12:130363634:TG:
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000506/6 (ALFA)
-=0.000023/3 (GnomAD)
HGVS:: NC_000012.12:g.130363635_130363636del, NC_000012.11:g.130848180_130848181del, NT_187589.1:g.40563_40564del

Select item 14909863598.

rs1490986359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:130370718 (GRCh38)
12:130855263 (GRCh37)
Canonical SPDI:: NC_000012.12:130370717:G:A
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.00046/8 (TOMMO)
A=0.000568/1 (Korea1K)
HGVS:: NC_000012.12:g.130370718G>A, NC_000012.11:g.130855263G>A, NT_187589.1:g.47646G>A

Select item 14909450299.

rs1490945029 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 12:130365606 (GRCh38)
12:130850151 (GRCh37)
Canonical SPDI:: NC_000012.12:130365605:TTT:TT
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.130365608del, NC_000012.11:g.130850153del, NT_187589.1:g.42536del

Select item 149088434110.

rs1490884341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:130407187 (GRCh38)
12:130891732 (GRCh37)
Canonical SPDI:: NC_000012.12:130407186:C:A,NC_000012.12:130407186:C:T
Gene:: PIWIL1 (Varview), RIMBP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
A=0.001638/3 (Korea1K)
HGVS:: NC_000012.12:g.130407187C>A, NC_000012.12:g.130407187C>T, NC_000012.11:g.130891732C>A, NC_000012.11:g.130891732C>T

Select item 149086716311.

rs1490867163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:130393436 (GRCh38)
12:130877981 (GRCh37)
Canonical SPDI:: NC_000012.12:130393435:G:A
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000169/2 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.130393436G>A, NC_000012.11:g.130877981G>A, NT_187589.1:g.70313G>A

Select item 149081061712.

rs1490810617 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:130347531 (GRCh38)
12:130832077 (GRCh37)
Canonical SPDI:: NC_000012.12:130347531:A:AA
Gene:: PIWIL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.130347532dup, NC_000012.11:g.130832077dup, NT_187589.1:g.24457dup

Select item 149081012013.

rs1490810120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:130392569 (GRCh38)
12:130877114 (GRCh37)
Canonical SPDI:: NC_000012.12:130392568:T:C
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.130392569T>C, NC_000012.11:g.130877114T>C, NT_187589.1:g.69459T>C

Select item 149080825714.

rs1490808257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:130378900 (GRCh38)
12:130863445 (GRCh37)
Canonical SPDI:: NC_000012.12:130378899:G:A,NC_000012.12:130378899:G:T
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant,genic_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)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.130378900G>A, NC_000012.12:g.130378900G>T, NC_000012.11:g.130863445G>A, NC_000012.11:g.130863445G>T, NT_187589.1:g.55805G>A, NT_187589.1:g.55805G>T

Select item 149062718615.

rs1490627186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:130339658 (GRCh38)
12:130824203 (GRCh37)
Canonical SPDI:: NC_000012.12:130339657:A:G
Gene:: PIWIL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.130339658A>G, NC_000012.11:g.130824203A>G, NT_187589.1:g.16583A>G, XM_011539004.4:c.-55A>G, XM_011539004.3:c.-55A>G, XM_011539004.2:c.-55A>G, XM_011539004.1:c.-55A>G

Select item 149058381016.

rs1490583810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:130354758 (GRCh38)
12:130839303 (GRCh37)
Canonical SPDI:: NC_000012.12:130354757:C:T
Gene:: PIWIL1 (Varview)
Functional Consequence:: 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_000012.12:g.130354758C>T, NC_000012.11:g.130839303C>T, NT_187589.1:g.31683C>T

Select item 149058065417.

rs1490580654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:130398053 (GRCh38)
12:130882598 (GRCh37)
Canonical SPDI:: NC_000012.12:130398052:A:C
Gene:: PIWIL1 (Varview), RIMBP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.130398053A>C, NC_000012.11:g.130882598A>C, NM_015347.5:c.*1082T>G, NM_015347.4:c.*1082T>G, NM_001351231.2:c.*1082T>G, NM_001351231.1:c.*1082T>G, NM_001351230.2:c.*1082T>G, NM_001351230.1:c.*1082T>G, NM_001393617.1:c.*1608T>G, NM_001393615.1:c.*1608T>G, NM_001393616.1:c.*1608T>G, NM_001393614.1:c.*1082T>G, NM_001393627.1:c.*1608T>G, NM_001393625.1:c.*1608T>G, NM_001393626.1:c.*1608T>G, NM_001393628.1:c.*1608T>G, NM_001393620.1:c.*1082T>G, NM_001393623.1:c.*1082T>G, NM_001393624.1:c.*1082T>G, NM_001393622.1:c.*1082T>G, NM_001393621.1:c.*1082T>G

Select item 149053279618.

rs1490532796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:130406182 (GRCh38)
12:130890727 (GRCh37)
Canonical SPDI:: NC_000012.12:130406181:C:A
Gene:: PIWIL1 (Varview), RIMBP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.130406182C>A, NC_000012.11:g.130890727C>A, NM_015347.5:c.2987G>T, NM_015347.4:c.2987G>T, XM_011538105.4:c.3401G>T, XM_011538105.3:c.3401G>T, XM_011538105.2:c.3401G>T, XM_011538105.1:c.3401G>T, XM_011538106.4:c.3242G>T, XM_011538106.3:c.3242G>T, XM_011538106.2:c.3242G>T, XM_011538106.1:c.3242G>T, XM_017019105.3:c.3755G>T, XM_017019105.2:c.3755G>T, XM_017019105.1:c.3755G>T, XM_011538103.3:c.4118G>T, XM_011538103.2:c.4118G>T, XM_011538103.1:c.4118G>T, NM_001351231.2:c.3038G>T, NM_001351231.1:c.3038G>T, NM_001351230.2:c.3038G>T, NM_001351230.1:c.3038G>T, XM_017019106.2:c.3401G>T, XM_017019106.1:c.3401G>T, NM_001351228.2:c.3038G>T, NM_001351228.1:c.3038G>T, NM_001351226.2:c.3038G>T, NM_001351226.1:c.3038G>T, NM_001351227.2:c.3038G>T, NM_001351227.1:c.3038G>T, NM_001351229.2:c.3038G>T, NM_001351229.1:c.3038G>T, NM_001393617.1:c.3755G>T, NM_001393615.1:c.3755G>T, NM_001393616.1:c.3755G>T, NM_001393614.1:c.3755G>T, NM_001393627.1:c.3038G>T, NM_001393625.1:c.3038G>T, NM_001393626.1:c.3038G>T, NM_001393628.1:c.2879G>T, NM_001393620.1:c.3038G>T, NM_001393623.1:c.3038G>T, NM_001393624.1:c.3038G>T, NM_001393622.1:c.3038G>T, NM_001393621.1:c.3038G>T, NM_001393629.1:c.3755G>T, XM_047428628.1:c.3755G>T, NM_001393619.1:c.3038G>T, NM_001393618.1:c.3038G>T, XM_047428629.1:c.3242G>T, XM_047428630.1:c.2879G>T, NP_056162.4:p.Gly996Val, XP_011536407.1:p.Gly1134Val, XP_011536408.1:p.Gly1081Val, XP_016874594.1:p.Gly1252Val, XP_011536405.1:p.Gly1373Val, NP_001338160.1:p.Gly1013Val, NP_001338159.1:p.Gly1013Val, XP_016874595.1:p.Gly1134Val, NP_001338157.1:p.Gly1013Val, NP_001338155.1:p.Gly1013Val, NP_001338156.1:p.Gly1013Val, NP_001338158.1:p.Gly1013Val, NP_001380546.1:p.Gly1252Val, NP_001380544.1:p.Gly1252Val, NP_001380545.1:p.Gly1252Val, NP_001380543.1:p.Gly1252Val, NP_001380556.1:p.Gly1013Val, NP_001380554.1:p.Gly1013Val, NP_001380555.1:p.Gly1013Val, NP_001380557.1:p.Gly960Val, NP_001380549.1:p.Gly1013Val, NP_001380552.1:p.Gly1013Val, NP_001380553.1:p.Gly1013Val, NP_001380551.1:p.Gly1013Val, NP_001380550.1:p.Gly1013Val, NP_001380558.1:p.Gly1252Val, XP_047284584.1:p.Gly1252Val, NP_001380548.1:p.Gly1013Val, NP_001380547.1:p.Gly1013Val, XP_047284585.1:p.Gly1081Val, XP_047284586.1:p.Gly960Val

Select item 149052046719.

rs1490520467 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 12:130384848 (GRCh38)
12:130869393 (GRCh37)
Canonical SPDI:: NC_000012.12:130384847:TTTTTT:TTTTT,NC_000012.12:130384847:TTTTTT:TTTTTTT
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.130384853del, NC_000012.12:g.130384853dup, NC_000012.11:g.130869398del, NC_000012.11:g.130869398dup, NT_187589.1:g.62068del, NT_187589.1:g.62068dup

Select item 149049826020.

rs1490498260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:130370244 (GRCh38)
12:130854789 (GRCh37)
Canonical SPDI:: NC_000012.12:130370243:G:A
Gene:: PIWIL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000121/16 (GnomAD)
A=0.010951/32 (KOREAN)
HGVS:: NC_000012.12:g.130370244G>A, NC_000012.11:g.130854789G>A, NT_187589.1:g.47173G>A

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