SNP Links for Gene (Select 439949) - SNP

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Select item 14915463501.

rs1491546350 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTA,TTTA,TTTTA,TTTTTA,TTTTTTA,TTTTTTTA [Show Flanks]
Chromosome:: 10:6579855 (GRCh38)
10:6621818 (GRCh37)
Canonical SPDI:: NC_000010.11:6579855::TA,NC_000010.11:6579855::TTA,NC_000010.11:6579855::TTTA,NC_000010.11:6579855::TTTTA,NC_000010.11:6579855::TTTTTA,NC_000010.11:6579855::TTTTTTA,NC_000010.11:6579855::TTTTTTTA
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTA=0./0 (ALFA)
HGVS:: NC_000010.11:g.6579855_6579856insTA, NC_000010.11:g.6579855_6579856insTTA, NC_000010.11:g.6579855_6579856insTTTA, NC_000010.11:g.6579855_6579856insTTTTA, NC_000010.11:g.6579855_6579856insTTTTTA, NC_000010.11:g.6579855_6579856insTTTTTTA, NC_000010.11:g.6579855_6579856insTTTTTTTA, NC_000010.10:g.6621817_6621818insTA, NC_000010.10:g.6621817_6621818insTTA, NC_000010.10:g.6621817_6621818insTTTA, NC_000010.10:g.6621817_6621818insTTTTA, NC_000010.10:g.6621817_6621818insTTTTTA, NC_000010.10:g.6621817_6621818insTTTTTTA, NC_000010.10:g.6621817_6621818insTTTTTTTA

Select item 14912681202.

rs1491268120 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:6579855 (GRCh38)
10:6621817 (GRCh37)
Canonical SPDI:: NC_000010.11:6579854:TA:
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.6579855_6579856del, NC_000010.10:g.6621817_6621818del

Select item 14912171443.

rs1491217144 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:6579837 (GRCh38)
10:6621799 (GRCh37)
Canonical SPDI:: NC_000010.11:6579836:AT:
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00005/2 (GnomAD)
HGVS:: NC_000010.11:g.6579837_6579838del, NC_000010.10:g.6621799_6621800del

Select item 14899695254.

rs1489969525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:6579692 (GRCh38)
10:6621654 (GRCh37)
Canonical SPDI:: NC_000010.11:6579691:C:T
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.6579692C>T, NC_000010.10:g.6621654C>T

Select item 14896335205.

rs1489633520 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:6585102 (GRCh38)
10:6627064 (GRCh37)
Canonical SPDI:: NC_000010.11:6585101:T:C
Gene:: PRKCQ-AS1 (Varview)
Functional Consequence:: non_coding_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_000010.11:g.6585102T>C, NC_000010.10:g.6627064T>C, NR_036502.1:n.1994T>C, NR_036503.1:n.1930T>C

Select item 14895863286.

rs1489586328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:6580004 (GRCh38)
10:6621966 (GRCh37)
Canonical SPDI:: NC_000010.11:6580003:G:A
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.6580004G>A, NC_000010.10:g.6621966G>A

Select item 14895149497.

rs1489514949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:6580484 (GRCh38)
10:6622446 (GRCh37)
Canonical SPDI:: NC_000010.11:6580483:G:T
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_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_000010.11:g.6580484G>T, NC_000010.10:g.6622446G>T, NR_036502.1:n.60G>T, NR_036503.1:n.60G>T

Select item 14887243368.

rs1488724336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:6580442 (GRCh38)
10:6622404 (GRCh37)
Canonical SPDI:: NC_000010.11:6580441:C:A
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_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_000010.11:g.6580442C>A, NC_000010.10:g.6622404C>A, NR_036502.1:n.18C>A, NR_036503.1:n.18C>A

Select item 14884394879.

rs1488439487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:6585615 (GRCh38)
10:6627577 (GRCh37)
Canonical SPDI:: NC_000010.11:6585614:C:T
Gene:: PRKCQ-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.6585615C>T, NC_000010.10:g.6627577C>T

Select item 148822725210.

rs1488227252 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:6584547 (GRCh38)
10:6626510 (GRCh37)
Canonical SPDI:: NC_000010.11:6584547::C
Gene:: PRKCQ-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000106/3 (TOMMO)
HGVS:: NC_000010.11:g.6584547_6584548insC, NC_000010.10:g.6626509_6626510insC, NR_036502.1:n.1439_1440insC, NR_036503.1:n.1375_1376insC

Select item 148806788711.

rs1488067887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 10:6581228 (GRCh38)
10:6623190 (GRCh37)
Canonical SPDI:: NC_000010.11:6581227:T:A,NC_000010.11:6581227:T:G
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.6581228T>A, NC_000010.11:g.6581228T>G, NC_000010.10:g.6623190T>A, NC_000010.10:g.6623190T>G

Select item 148751526712.

rs1487515267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:6580734 (GRCh38)
10:6622696 (GRCh37)
Canonical SPDI:: NC_000010.11:6580733:A:G
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.6580734A>G, NC_000010.10:g.6622696A>G, NR_036502.1:n.310A>G, NR_036503.1:n.310A>G

Select item 148731695413.

rs1487316954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:6584328 (GRCh38)
10:6626290 (GRCh37)
Canonical SPDI:: NC_000010.11:6584327:A:G
Gene:: PRKCQ-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.6584328A>G, NC_000010.10:g.6626290A>G, NR_036502.1:n.1220A>G, NR_036503.1:n.1156A>G

Select item 148708527814.

rs1487085278 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTG>- [Show Flanks]
Chromosome:: 10:6580787 (GRCh38)
10:6622749 (GRCh37)
Canonical SPDI:: NC_000010.11:6580782:TTTGTTTG:TTTG
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTTTG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.6580783TTTG[1], NC_000010.10:g.6622745TTTG[1], NR_036502.1:n.359TTTG[1], NR_036503.1:n.359TTTG[1]

Select item 148618063015.

rs1486180630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:6580686 (GRCh38)
10:6622648 (GRCh37)
Canonical SPDI:: NC_000010.11:6580685:G:A,NC_000010.11:6580685:G:C
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.6580686G>A, NC_000010.11:g.6580686G>C, NC_000010.10:g.6622648G>A, NC_000010.10:g.6622648G>C, NR_036502.1:n.262G>A, NR_036502.1:n.262G>C, NR_036503.1:n.262G>A, NR_036503.1:n.262G>C

Select item 148614392716.

rs1486143927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:6582513 (GRCh38)
10:6624475 (GRCh37)
Canonical SPDI:: NC_000010.11:6582512:A:G
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.6582513A>G, NC_000010.10:g.6624475A>G

Select item 148611270917.

rs1486112709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:6580396 (GRCh38)
10:6622358 (GRCh37)
Canonical SPDI:: NC_000010.11:6580395:A:C,NC_000010.11:6580395:A:G
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
C=0.00071/2 (KOREAN)
HGVS:: NC_000010.11:g.6580396A>C, NC_000010.11:g.6580396A>G, NC_000010.10:g.6622358A>C, NC_000010.10:g.6622358A>G

Select item 148552401618.

rs1485524016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:6579222 (GRCh38)
10:6621184 (GRCh37)
Canonical SPDI:: NC_000010.11:6579221:T:C
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000071/2 (TOMMO)
HGVS:: NC_000010.11:g.6579222T>C, NC_000010.10:g.6621184T>C

Select item 148550287819.

rs1485502878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:6579904 (GRCh38)
10:6621866 (GRCh37)
Canonical SPDI:: NC_000010.11:6579903:T:C
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.6579904T>C, NC_000010.10:g.6621866T>C

Select item 148479866820.

rs1484798668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:6582139 (GRCh38)
10:6624101 (GRCh37)
Canonical SPDI:: NC_000010.11:6582138:G:A
Gene:: PRKCQ (Varview), PRKCQ-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000010.11:g.6582139G>A, NC_000010.10:g.6624101G>A, NR_036502.1:n.505G>A

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