SNP Links for Gene (Select 101929760) - SNP

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Select item 14906770591.

rs1490677059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:31336828 (GRCh38)
22:31732814 (GRCh37)
Canonical SPDI:: NC_000022.11:31336827:A:G,NC_000022.11:31336827:A:T
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000008/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.31336828A>G, NC_000022.11:g.31336828A>T, NC_000022.10:g.31732814A>G, NC_000022.10:g.31732814A>T

Select item 14901608252.

rs1490160825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:31335419 (GRCh38)
22:31731405 (GRCh37)
Canonical SPDI:: NC_000022.11:31335418:G:A,NC_000022.11:31335418:G:C
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: intron_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_000022.11:g.31335419G>A, NC_000022.11:g.31335419G>C, NC_000022.10:g.31731405G>A, NC_000022.10:g.31731405G>C

Select item 14890124603.

rs1489012460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:31335899 (GRCh38)
22:31731885 (GRCh37)
Canonical SPDI:: NC_000022.11:31335898:C:T
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.31335899C>T, NC_000022.10:g.31731885C>T

Select item 14879708874.

rs1487970887 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 22:31337255 (GRCh38)
22:31733241 (GRCh37)
Canonical SPDI:: NC_000022.11:31337254:CCC:CC
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000022.11:g.31337257del, NC_000022.10:g.31733243del

Select item 14876715725.

rs1487671572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:31335237 (GRCh38)
22:31731223 (GRCh37)
Canonical SPDI:: NC_000022.11:31335236:C:G
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.31335237C>G, NC_000022.10:g.31731223C>G

Select item 14872167296.

rs1487216729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31335743 (GRCh38)
22:31731729 (GRCh37)
Canonical SPDI:: NC_000022.11:31335742:G:A
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.31335743G>A, NC_000022.10:g.31731729G>A, NM_014323.3:c.1456C>T, NM_014323.2:c.1456C>T, NM_032052.2:c.1456C>T, NM_032052.1:c.1456C>T, NM_032050.2:c.1456C>T, NM_032050.1:c.1456C>T

Select item 14866225457.

rs1486622545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31334592 (GRCh38)
22:31730578 (GRCh37)
Canonical SPDI:: NC_000022.11:31334591:G:A
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.31334592G>A, NC_000022.10:g.31730578G>A

Select item 14858780948.

rs1485878094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:31334918 (GRCh38)
22:31730904 (GRCh37)
Canonical SPDI:: NC_000022.11:31334917:T:G
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.31334918T>G, NC_000022.10:g.31730904T>G

Select item 14856431149.

rs1485643114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31333385 (GRCh38)
22:31729371 (GRCh37)
Canonical SPDI:: NC_000022.11:31333384:G:A
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000022.11:g.31333385G>A, NC_000022.10:g.31729371G>A

Select item 148521430510.

rs1485214305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:31335801 (GRCh38)
22:31731787 (GRCh37)
Canonical SPDI:: NC_000022.11:31335800:G:A
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_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_000022.11:g.31335801G>A, NC_000022.10:g.31731787G>A, NM_014323.3:c.1398C>T, NM_014323.2:c.1398C>T, NM_032052.2:c.1398C>T, NM_032052.1:c.1398C>T, NM_032050.2:c.1398C>T, NM_032050.1:c.1398C>T

Select item 148430946711.

rs1484309467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:31338209 (GRCh38)
22:31734195 (GRCh37)
Canonical SPDI:: NC_000022.11:31338208:T:G
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.31338209T>G, NC_000022.10:g.31734195T>G

Select item 148419446612.

rs1484194466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:31335432 (GRCh38)
22:31731418 (GRCh37)
Canonical SPDI:: NC_000022.11:31335431:C:T
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.31335432C>T, NC_000022.10:g.31731418C>T

Select item 148365443713.

rs1483654437 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:31334747 (GRCh38)
22:31730733 (GRCh37)
Canonical SPDI:: NC_000022.11:31334746:A:G
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.31334747A>G, NC_000022.10:g.31730733A>G

Select item 148306285814.

rs1483062858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:31336004 (GRCh38)
22:31731990 (GRCh37)
Canonical SPDI:: NC_000022.11:31336003:G:A,NC_000022.11:31336003:G:C
Gene:: PATZ1 (Varview), PIK3IP1-DT (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)
C=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.31336004G>A, NC_000022.11:g.31336004G>C, NC_000022.10:g.31731990G>A, NC_000022.10:g.31731990G>C

Select item 148255798615.

rs1482557986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:31334778 (GRCh38)
22:31730764 (GRCh37)
Canonical SPDI:: NC_000022.11:31334777:C:A
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_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_000022.11:g.31334778C>A, NC_000022.10:g.31730764C>A

Select item 148206005216.

rs1482060052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:31334928 (GRCh38)
22:31730914 (GRCh37)
Canonical SPDI:: NC_000022.11:31334927:C:G
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.31334928C>G, NC_000022.10:g.31730914C>G

Select item 148173706617.

rs1481737066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:31336102 (GRCh38)
22:31732088 (GRCh37)
Canonical SPDI:: NC_000022.11:31336101:C:G,NC_000022.11:31336101:C:T
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.31336102C>G, NC_000022.11:g.31336102C>T, NC_000022.10:g.31732088C>G, NC_000022.10:g.31732088C>T

Select item 148115184518.

rs1481151845 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 22:31336881 (GRCh38)
22:31732867 (GRCh37)
Canonical SPDI:: NC_000022.11:31336880:GGG:GG
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.31336883del, NC_000022.10:g.31732869del

Select item 148110103819.

rs1481101038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:31334195 (GRCh38)
22:31730181 (GRCh37)
Canonical SPDI:: NC_000022.11:31334194:G:C
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.31334195G>C, NC_000022.10:g.31730181G>C

Select item 148010919520.

rs1480109195 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCA>- [Show Flanks]
Chromosome:: 22:31335502 (GRCh38)
22:31731488 (GRCh37)
Canonical SPDI:: NC_000022.11:31335499:CACCCCA:CA
Gene:: PATZ1 (Varview), PIK3IP1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.31335502_31335506del, NC_000022.10:g.31731488_31731492del

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