SNP Links for Gene (Select 5588) - SNP

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Select item 14915870371.

rs1491587037 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:6404649 (GRCh38)
10:6446611 (GRCh37)
Canonical SPDI:: NC_000010.11:6404648:CT:
Gene:: PRKCQ (Varview), LOC124902370 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.6404649_6404650del, NC_000010.10:g.6446611_6446612del

Select item 14915795672.

rs1491579567 has merged into rs778928004 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 10:6415757 (GRCh38)
10:6457719 (GRCh37)
Canonical SPDI:: NC_000010.11:6415746:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:6415746:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:6415746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:6415746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:6415746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:6415746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: PRKCQ (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.0072/4 (NorthernSweden)
-=0.018/33 (Korea1K)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000010.11:g.6415757_6415761del, NC_000010.11:g.6415759_6415761del, NC_000010.11:g.6415760_6415761del, NC_000010.11:g.6415761del, NC_000010.11:g.6415761dup, NC_000010.11:g.6415758_6415761dup, NC_000010.10:g.6457719_6457723del, NC_000010.10:g.6457721_6457723del, NC_000010.10:g.6457722_6457723del, NC_000010.10:g.6457723del, NC_000010.10:g.6457723dup, NC_000010.10:g.6457720_6457723dup

Select item 14915535643.

rs1491553564 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:6447207 (GRCh38)
10:6489169 (GRCh37)
Canonical SPDI:: NC_000010.11:6447204:GAGA:GA
Gene:: PRKCQ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGA=0.017082/240 (ALFA)
-=0.025672/6795 (TOPMED)
HGVS:: NC_000010.11:g.6447205GA[1], NC_000010.10:g.6489167GA[1]

Select item 14915463504.

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 14915070565.

rs1491507056 has merged into rs869095163 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:6395067 (GRCh38)
10:6437029 (GRCh37)
Canonical SPDI:: NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:6395056:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRKCQ (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
T=0.001852/31 (TOMMO)
HGVS:: NC_000010.11:g.6395067_6395080del, NC_000010.11:g.6395068_6395080del, NC_000010.11:g.6395070_6395080del, NC_000010.11:g.6395071_6395080del, NC_000010.11:g.6395072_6395080del, NC_000010.11:g.6395073_6395080del, NC_000010.11:g.6395075_6395080del, NC_000010.11:g.6395076_6395080del, NC_000010.11:g.6395077_6395080del, NC_000010.11:g.6395079_6395080del, NC_000010.11:g.6395080del, NC_000010.11:g.6395080dup, NC_000010.11:g.6395079_6395080dup, NC_000010.11:g.6395078_6395080dup, NC_000010.11:g.6395077_6395080dup, NC_000010.11:g.6395076_6395080dup, NC_000010.11:g.6395075_6395080dup, NC_000010.11:g.6395074_6395080dup, NC_000010.11:g.6395073_6395080dup, NC_000010.11:g.6395070_6395080dup, NC_000010.11:g.6395067_6395080dup, NC_000010.11:g.6395080_6395081insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.6395080_6395081insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.6395080_6395081insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.6437029_6437042del, NC_000010.10:g.6437030_6437042del, NC_000010.10:g.6437032_6437042del, NC_000010.10:g.6437033_6437042del, NC_000010.10:g.6437034_6437042del, NC_000010.10:g.6437035_6437042del, NC_000010.10:g.6437037_6437042del, NC_000010.10:g.6437038_6437042del, NC_000010.10:g.6437039_6437042del, NC_000010.10:g.6437041_6437042del, NC_000010.10:g.6437042del, NC_000010.10:g.6437042dup, NC_000010.10:g.6437041_6437042dup, NC_000010.10:g.6437040_6437042dup, NC_000010.10:g.6437039_6437042dup, NC_000010.10:g.6437038_6437042dup, NC_000010.10:g.6437037_6437042dup, NC_000010.10:g.6437036_6437042dup, NC_000010.10:g.6437035_6437042dup, NC_000010.10:g.6437032_6437042dup, NC_000010.10:g.6437029_6437042dup, NC_000010.10:g.6437042_6437043insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.6437042_6437043insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.6437042_6437043insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915066206.

rs1491506620 has merged into rs58606251 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:6513458 (GRCh38)
10:6555420 (GRCh37)
Canonical SPDI:: NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6513447:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRKCQ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.6513458_6513467del, NC_000010.11:g.6513460_6513467del, NC_000010.11:g.6513461_6513467del, NC_000010.11:g.6513462_6513467del, NC_000010.11:g.6513463_6513467del, NC_000010.11:g.6513464_6513467del, NC_000010.11:g.6513465_6513467del, NC_000010.11:g.6513466_6513467del, NC_000010.11:g.6513467del, NC_000010.11:g.6513467dup, NC_000010.11:g.6513466_6513467dup, NC_000010.11:g.6513465_6513467dup, NC_000010.11:g.6513464_6513467dup, NC_000010.11:g.6513463_6513467dup, NC_000010.11:g.6513462_6513467dup, NC_000010.11:g.6513461_6513467dup, NC_000010.11:g.6513460_6513467dup, NC_000010.11:g.6513459_6513467dup, NC_000010.11:g.6513453_6513467dup, NC_000010.11:g.6513467_6513468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.6513467_6513468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.6555420_6555429del, NC_000010.10:g.6555422_6555429del, NC_000010.10:g.6555423_6555429del, NC_000010.10:g.6555424_6555429del, NC_000010.10:g.6555425_6555429del, NC_000010.10:g.6555426_6555429del, NC_000010.10:g.6555427_6555429del, NC_000010.10:g.6555428_6555429del, NC_000010.10:g.6555429del, NC_000010.10:g.6555429dup, NC_000010.10:g.6555428_6555429dup, NC_000010.10:g.6555427_6555429dup, NC_000010.10:g.6555426_6555429dup, NC_000010.10:g.6555425_6555429dup, NC_000010.10:g.6555424_6555429dup, NC_000010.10:g.6555423_6555429dup, NC_000010.10:g.6555422_6555429dup, NC_000010.10:g.6555421_6555429dup, NC_000010.10:g.6555415_6555429dup, NC_000010.10:g.6555429_6555430insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.6555429_6555430insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915042307.

rs1491504230 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:6467296 (GRCh38)
10:6509258 (GRCh37)
Canonical SPDI:: NC_000010.11:6467295:TG:
Gene:: PRKCQ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000010.11:g.6467296_6467297del, NC_000010.10:g.6509258_6509259del

Select item 14914966668.

rs1491496666 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:6460481 (GRCh38)
10:6502444 (GRCh37)
Canonical SPDI:: NC_000010.11:6460481::C
Gene:: PRKCQ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000009/1 (GnomAD)
HGVS:: NC_000010.11:g.6460481_6460482insC, NC_000010.10:g.6502443_6502444insC

Select item 14914948179.

rs1491494817 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:6407470 (GRCh38)
10:6449432 (GRCh37)
Canonical SPDI:: NC_000010.11:6407469:AG:
Gene:: PRKCQ (Varview), LOC124902370 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000422/5 (ALFA)
-=0.000257/68 (TOPMED)
-=0.000303/27 (GnomAD)
HGVS:: NC_000010.11:g.6407470_6407471del, NC_000010.10:g.6449432_6449433del

Select item 149148473010.

rs1491484730 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:6513447 (GRCh38)
10:6555409 (GRCh37)
Canonical SPDI:: NC_000010.11:6513446:CA:
Gene:: PRKCQ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01492/177 (ALFA)
-=0.00036/6 (TOMMO)
-=0.00942/210 (GnomAD)
HGVS:: NC_000010.11:g.6513447_6513448del, NC_000010.10:g.6555409_6555410del

Select item 149147783511.

rs1491477835 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:6522984 (GRCh38)
10:6564947 (GRCh37)
Canonical SPDI:: NC_000010.11:6522984:T:TT
Gene:: PRKCQ (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.6522985dup, NC_000010.10:g.6564947dup

Select item 149145620512.

rs1491456205 has merged into rs71515440 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 10:6552899 (GRCh38)
10:6594861 (GRCh37)
Canonical SPDI:: NC_000010.11:6552893:TTTTTTTTT:TTTTT,NC_000010.11:6552893:TTTTTTTTT:TTTTTT,NC_000010.11:6552893:TTTTTTTTT:TTTTTTT,NC_000010.11:6552893:TTTTTTTTT:TTTTTTTT,NC_000010.11:6552893:TTTTTTTTT:TTTTTTTTTT
Gene:: PRKCQ (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000010.11:g.6552899_6552902del, NC_000010.11:g.6552900_6552902del, NC_000010.11:g.6552901_6552902del, NC_000010.11:g.6552902del, NC_000010.11:g.6552902dup, NC_000010.10:g.6594861_6594864del, NC_000010.10:g.6594862_6594864del, NC_000010.10:g.6594863_6594864del, NC_000010.10:g.6594864del, NC_000010.10:g.6594864dup

Select item 149145553513.

rs1491455535 has merged into rs143939386 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACTAGGAAGCACTGGATTAAATGCCACTTGTGCACACACACACACACAC [Show Flanks]
Chromosome:: 10:6413739 (GRCh38)
10:6455701 (GRCh37)
Canonical SPDI:: NC_000010.11:6413731:CACACACACACACAC:CACACAC,NC_000010.11:6413731:CACACACACACACAC:CACACACACAC,NC_000010.11:6413731:CACACACACACACAC:CACACACACACAC,NC_000010.11:6413731:CACACACACACACAC:CACACACACACACACAC,NC_000010.11:6413731:CACACACACACACAC:CACACACACACACACACAC,NC_000010.11:6413731:CACACACACACACAC:CACACACACACACACACACAC,NC_000010.11:6413731:CACACACACACACAC:CACACACACACACACACTAGGAAGCACTGGATTAAATGCCACTTGTGCACACACACACACACAC
Gene:: PRKCQ (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACAC=0./0 (ALFA)
CA=0.3968/1987 (1000Genomes)
HGVS:: NC_000010.11:g.6413733AC[3], NC_000010.11:g.6413733AC[5], NC_000010.11:g.6413733AC[6], NC_000010.11:g.6413733AC[8], NC_000010.11:g.6413733AC[9], NC_000010.11:g.6413733AC[10], NC_000010.11:g.6413732_6413746CA[8]CTAGGAAGCACTGGATTAAATGCCACTTGTGCACACACACACACACAC[1], NC_000010.10:g.6455695AC[3], NC_000010.10:g.6455695AC[5], NC_000010.10:g.6455695AC[6], NC_000010.10:g.6455695AC[8], NC_000010.10:g.6455695AC[9], NC_000010.10:g.6455695AC[10], NC_000010.10:g.6455694_6455708CA[8]CTAGGAAGCACTGGATTAAATGCCACTTGTGCACACACACACACACAC[1]

Select item 149144880414.

rs1491448804 has merged into rs919270279 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 10:6556449 (GRCh38)
10:6598411 (GRCh37)
Canonical SPDI:: NC_000010.11:6556434:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:6556434:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:6556434:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:6556434:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:6556434:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:6556434:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRKCQ (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.00008/2 (TOMMO)
HGVS:: NC_000010.11:g.6556449_6556455del, NC_000010.11:g.6556453_6556455del, NC_000010.11:g.6556454_6556455del, NC_000010.11:g.6556455del, NC_000010.11:g.6556455dup, NC_000010.11:g.6556454_6556455dup, NC_000010.10:g.6598411_6598417del, NC_000010.10:g.6598415_6598417del, NC_000010.10:g.6598416_6598417del, NC_000010.10:g.6598417del, NC_000010.10:g.6598417dup, NC_000010.10:g.6598416_6598417dup

Select item 149142654115.

rs1491426541 has merged into rs143707110 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGC>-,GC,GCGC,GCGCGCGC,GCGCGCGCGC [Show Flanks]
Chromosome:: 10:6413727 (GRCh38)
10:6455689 (GRCh37)
Canonical SPDI:: NC_000010.11:6413724:GCGCGCGC:GC,NC_000010.11:6413724:GCGCGCGC:GCGC,NC_000010.11:6413724:GCGCGCGC:GCGCGC,NC_000010.11:6413724:GCGCGCGC:GCGCGCGCGC,NC_000010.11:6413724:GCGCGCGC:GCGCGCGCGCGC
Gene:: PRKCQ (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGC=0./0 (ALFA)
GC=0.00121/19 (TOMMO)
HGVS:: NC_000010.11:g.6413725GC[1], NC_000010.11:g.6413725GC[2], NC_000010.11:g.6413725GC[3], NC_000010.11:g.6413725GC[5], NC_000010.11:g.6413725GC[6], NC_000010.10:g.6455687GC[1], NC_000010.10:g.6455687GC[2], NC_000010.10:g.6455687GC[3], NC_000010.10:g.6455687GC[5], NC_000010.10:g.6455687GC[6]

Select item 149140787116.

rs1491407871 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 10:6413732 (GRCh38)
10:6455695 (GRCh37)
Canonical SPDI:: NC_000010.11:6413732:A:AGA
Gene:: PRKCQ (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.00003/1 (GnomAD)
HGVS:: NC_000010.11:g.6413733_6413734insGA, NC_000010.10:g.6455695_6455696insGA

Select item 149134859317.

rs1491348593 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 149132384218.

rs1491323842 has merged into rs1554755955 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGAGAGAGAGAGA>-,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 10:6404266 (GRCh38)
10:6446228 (GRCh37)
Canonical SPDI:: NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6404255:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: PRKCQ (Varview), LOC124902370 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGA=0./0 (ALFA)
GAGAGAGAGA=0.03207/845 (TOMMO)
HGVS:: NC_000010.11:g.6404256GA[5], NC_000010.11:g.6404256GA[10], NC_000010.11:g.6404256GA[11], NC_000010.11:g.6404256GA[12], NC_000010.11:g.6404256GA[13], NC_000010.11:g.6404256GA[14], NC_000010.11:g.6404256GA[15], NC_000010.11:g.6404256GA[17], NC_000010.11:g.6404256GA[18], NC_000010.11:g.6404256GA[19], NC_000010.11:g.6404256GA[20], NC_000010.11:g.6404256GA[21], NC_000010.11:g.6404256GA[22], NC_000010.11:g.6404256GA[23], NC_000010.11:g.6404256GA[24], NC_000010.11:g.6404256GA[25], NC_000010.11:g.6404256GA[26], NC_000010.11:g.6404256GA[27], NC_000010.10:g.6446218GA[5], NC_000010.10:g.6446218GA[10], NC_000010.10:g.6446218GA[11], NC_000010.10:g.6446218GA[12], NC_000010.10:g.6446218GA[13], NC_000010.10:g.6446218GA[14], NC_000010.10:g.6446218GA[15], NC_000010.10:g.6446218GA[17], NC_000010.10:g.6446218GA[18], NC_000010.10:g.6446218GA[19], NC_000010.10:g.6446218GA[20], NC_000010.10:g.6446218GA[21], NC_000010.10:g.6446218GA[22], NC_000010.10:g.6446218GA[23], NC_000010.10:g.6446218GA[24], NC_000010.10:g.6446218GA[25], NC_000010.10:g.6446218GA[26], NC_000010.10:g.6446218GA[27]

Select item 149128685919.

rs1491286859 has merged into rs35362449 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 10:6467309 (GRCh38)
10:6509271 (GRCh37)
Canonical SPDI:: NC_000010.11:6467296:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000010.11:6467296:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000010.11:6467296:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000010.11:6467296:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000010.11:6467296:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000010.11:6467296:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6467296:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6467296:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6467296:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6467296:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000010.11:6467296:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: PRKCQ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGA=0./0 (ALFA)
-=0.069/266 (ALSPAC)
GA=0.1316/659 (1000Genomes)
HGVS:: NC_000010.11:g.6467297GA[6], NC_000010.11:g.6467297GA[7], NC_000010.11:g.6467297GA[8], NC_000010.11:g.6467297GA[9], NC_000010.11:g.6467297GA[10], NC_000010.11:g.6467297GA[11], NC_000010.11:g.6467297GA[13], NC_000010.11:g.6467297GA[14], NC_000010.11:g.6467297GA[15], NC_000010.11:g.6467297GA[16], NC_000010.11:g.6467297GA[18], NC_000010.10:g.6509259GA[6], NC_000010.10:g.6509259GA[7], NC_000010.10:g.6509259GA[8], NC_000010.10:g.6509259GA[9], NC_000010.10:g.6509259GA[10], NC_000010.10:g.6509259GA[11], NC_000010.10:g.6509259GA[13], NC_000010.10:g.6509259GA[14], NC_000010.10:g.6509259GA[15], NC_000010.10:g.6509259GA[16], NC_000010.10:g.6509259GA[18]

Select item 149126812020.

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

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