SNP Links for Gene (Select 5580) - SNP

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Select item 14915439091.

rs1491543909 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 3:53162270 (GRCh38)
3:53196286 (GRCh37)
Canonical SPDI:: NC_000003.12:53162269:CG:
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.53162270_53162271del, NC_000003.11:g.53196286_53196287del, NG_033864.2:g.11262_11263del, NW_004775426.1:g.11225_11226del

Select item 14913103922.

rs1491310392 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 3:53162695 (GRCh38)
3:53196711 (GRCh37)
Canonical SPDI:: NC_000003.12:53162694:CG:
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00002/2 (GnomAD)
-=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.53162695_53162696del, NC_000003.11:g.53196711_53196712del, NG_033864.2:g.11687_11688del, NW_004775426.1:g.11650_11651del, XM_047448564.1:c.-2540_-2539del

Select item 14913009053.

rs1491300905 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:53162271 (GRCh38)
3:53196288 (GRCh37)
Canonical SPDI:: NC_000003.12:53162271::C
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002192/26 (ALFA)
C=0.002985/790 (TOPMED)
C=0.003526/360 (GnomAD)
C=0.015289/256 (TOMMO)
C=0.029638/54 (Korea1K)
HGVS:: NC_000003.12:g.53162271_53162272insC, NC_000003.11:g.53196287_53196288insC, NG_033864.2:g.11263_11264insC, NW_004775426.1:g.11226_11227insC

Select item 14912499564.

rs1491249956 has merged into rs550105739 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 3:53162279 (GRCh38)
3:53196295 (GRCh37)
Canonical SPDI:: NC_000003.12:53162270:GGGGGGGGGGG:GGGGGGGG,NC_000003.12:53162270:GGGGGGGGGGG:GGGGGGGGG,NC_000003.12:53162270:GGGGGGGGGGG:GGGGGGGGGG,NC_000003.12:53162270:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000003.12:53162270:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000003.12:53162270:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000003.12:53162270:GGGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: PRKCD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.04833/29 (NorthernSweden)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000003.12:g.53162279_53162281del, NC_000003.12:g.53162280_53162281del, NC_000003.12:g.53162281del, NC_000003.12:g.53162281dup, NC_000003.12:g.53162280_53162281dup, NC_000003.12:g.53162279_53162281dup, NC_000003.12:g.53162278_53162281dup, NC_000003.11:g.53196295_53196297del, NC_000003.11:g.53196296_53196297del, NC_000003.11:g.53196297del, NC_000003.11:g.53196297dup, NC_000003.11:g.53196296_53196297dup, NC_000003.11:g.53196295_53196297dup, NC_000003.11:g.53196294_53196297dup, NG_033864.2:g.11271_11273del, NG_033864.2:g.11272_11273del, NG_033864.2:g.11273del, NG_033864.2:g.11273dup, NG_033864.2:g.11272_11273dup, NG_033864.2:g.11271_11273dup, NG_033864.2:g.11270_11273dup, NW_004775426.1:g.11234_11236del, NW_004775426.1:g.11235_11236del, NW_004775426.1:g.11236del, NW_004775426.1:g.11236dup, NW_004775426.1:g.11235_11236dup, NW_004775426.1:g.11234_11236dup, NW_004775426.1:g.11233_11236dup

Select item 14912279975.

rs1491227997 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 3:53162695 (GRCh38)
3:53196712 (GRCh37)
Canonical SPDI:: NC_000003.12:53162695::TG
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.53162695_53162696insTG, NC_000003.11:g.53196711_53196712insTG, NG_033864.2:g.11687_11688insTG, NW_004775426.1:g.11650_11651insTG, XM_047448564.1:c.-2540_-2539insTG

Select item 14910593226.

rs1491059322 has merged into rs1158515006 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGAGA [Show Flanks]
Chromosome:: 3:53184706 (GRCh38)
3:53218722 (GRCh37)
Canonical SPDI:: NC_000003.12:53184690:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000003.12:53184690:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000003.12:53184690:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000003.12:53184690:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000003.12:53184690:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGA=0./0 (ALFA)
AGAGAGAG=0.000004/1 (TOPMED)
AG=0.000179/3 (TOMMO)
HGVS:: NC_000003.12:g.53184692GA[7], NC_000003.12:g.53184692GA[8], NC_000003.12:g.53184692GA[10], NC_000003.12:g.53184692GA[11], NC_000003.12:g.53184692GA[13], NC_000003.11:g.53218708GA[7], NC_000003.11:g.53218708GA[8], NC_000003.11:g.53218708GA[10], NC_000003.11:g.53218708GA[11], NC_000003.11:g.53218708GA[13], NG_033864.2:g.33684GA[7], NG_033864.2:g.33684GA[8], NG_033864.2:g.33684GA[10], NG_033864.2:g.33684GA[11], NG_033864.2:g.33684GA[13], NW_004775426.1:g.33647GA[7], NW_004775426.1:g.33647GA[8], NW_004775426.1:g.33647GA[10], NW_004775426.1:g.33647GA[11], NW_004775426.1:g.33647GA[13]

Select item 14910344877.

rs1491034487 has merged into rs72190282 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:53192647 (GRCh38)
3:53226663 (GRCh37)
Canonical SPDI:: NC_000003.12:53192637:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:53192637:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:53192637:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:53192637:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:53192637:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:53192637:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:53192637:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:53192637:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:53192637:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:53192637:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:53192637:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: PRKCD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.251/1257 (1000Genomes)
HGVS:: NC_000003.12:g.53192647_53192652del, NC_000003.12:g.53192649_53192652del, NC_000003.12:g.53192650_53192652del, NC_000003.12:g.53192651_53192652del, NC_000003.12:g.53192652del, NC_000003.12:g.53192652dup, NC_000003.12:g.53192651_53192652dup, NC_000003.12:g.53192650_53192652dup, NC_000003.12:g.53192649_53192652dup, NC_000003.12:g.53192648_53192652dup, NC_000003.12:g.53192647_53192652dup, NC_000003.11:g.53226663_53226668del, NC_000003.11:g.53226665_53226668del, NC_000003.11:g.53226666_53226668del, NC_000003.11:g.53226667_53226668del, NC_000003.11:g.53226668del, NC_000003.11:g.53226668dup, NC_000003.11:g.53226667_53226668dup, NC_000003.11:g.53226666_53226668dup, NC_000003.11:g.53226665_53226668dup, NC_000003.11:g.53226664_53226668dup, NC_000003.11:g.53226663_53226668dup, NG_033864.2:g.41639_41644del, NG_033864.2:g.41641_41644del, NG_033864.2:g.41642_41644del, NG_033864.2:g.41643_41644del, NG_033864.2:g.41644del, NG_033864.2:g.41644dup, NG_033864.2:g.41643_41644dup, NG_033864.2:g.41642_41644dup, NG_033864.2:g.41641_41644dup, NG_033864.2:g.41640_41644dup, NG_033864.2:g.41639_41644dup, NM_006254.4:c.*381_*386del, NM_006254.4:c.*383_*386del, NM_006254.4:c.*384_*386del, NM_006254.4:c.*385_*386del, NM_006254.4:c.*386del, NM_006254.4:c.*386dup, NM_006254.4:c.*385_*386dup, NM_006254.4:c.*384_*386dup, NM_006254.4:c.*383_*386dup, NM_006254.4:c.*382_*386dup, NM_006254.4:c.*381_*386dup, NM_006254.3:c.*381_*386del, NM_006254.3:c.*383_*386del, NM_006254.3:c.*384_*386del, NM_006254.3:c.*385_*386del, NM_006254.3:c.*386del, NM_006254.3:c.*386dup, NM_006254.3:c.*385_*386dup, NM_006254.3:c.*384_*386dup, NM_006254.3:c.*383_*386dup, NM_006254.3:c.*382_*386dup, NM_006254.3:c.*381_*386dup, NM_001354680.2:c.*381_*386del, NM_001354680.2:c.*383_*386del, NM_001354680.2:c.*384_*386del, NM_001354680.2:c.*385_*386del, NM_001354680.2:c.*386del, NM_001354680.2:c.*386dup, NM_001354680.2:c.*385_*386dup, NM_001354680.2:c.*384_*386dup, NM_001354680.2:c.*383_*386dup, NM_001354680.2:c.*382_*386dup, NM_001354680.2:c.*381_*386dup, NM_001354680.1:c.*381_*386del, NM_001354680.1:c.*383_*386del, NM_001354680.1:c.*384_*386del, NM_001354680.1:c.*385_*386del, NM_001354680.1:c.*386del, NM_001354680.1:c.*386dup, NM_001354680.1:c.*385_*386dup, NM_001354680.1:c.*384_*386dup, NM_001354680.1:c.*383_*386dup, NM_001354680.1:c.*382_*386dup, NM_001354680.1:c.*381_*386dup, NM_001354679.2:c.*381_*386del, NM_001354679.2:c.*383_*386del, NM_001354679.2:c.*384_*386del, NM_001354679.2:c.*385_*386del, NM_001354679.2:c.*386del, NM_001354679.2:c.*386dup, NM_001354679.2:c.*385_*386dup, NM_001354679.2:c.*384_*386dup, NM_001354679.2:c.*383_*386dup, NM_001354679.2:c.*382_*386dup, NM_001354679.2:c.*381_*386dup, NM_001354679.1:c.*381_*386del, NM_001354679.1:c.*383_*386del, NM_001354679.1:c.*384_*386del, NM_001354679.1:c.*385_*386del, NM_001354679.1:c.*386del, NM_001354679.1:c.*386dup, NM_001354679.1:c.*385_*386dup, NM_001354679.1:c.*384_*386dup, NM_001354679.1:c.*383_*386dup, NM_001354679.1:c.*382_*386dup, NM_001354679.1:c.*381_*386dup, NM_212539.2:c.*381_*386del, NM_212539.2:c.*383_*386del, NM_212539.2:c.*384_*386del, NM_212539.2:c.*385_*386del, NM_212539.2:c.*386del, NM_212539.2:c.*386dup, NM_212539.2:c.*385_*386dup, NM_212539.2:c.*384_*386dup, NM_212539.2:c.*383_*386dup, NM_212539.2:c.*382_*386dup, NM_212539.2:c.*381_*386dup, NM_212539.1:c.*381_*386del, NM_212539.1:c.*383_*386del, NM_212539.1:c.*384_*386del, NM_212539.1:c.*385_*386del, NM_212539.1:c.*386del, NM_212539.1:c.*386dup, NM_212539.1:c.*385_*386dup, NM_212539.1:c.*384_*386dup, NM_212539.1:c.*383_*386dup, NM_212539.1:c.*382_*386dup, NM_212539.1:c.*381_*386dup, NM_001316327.2:c.*381_*386del, NM_001316327.2:c.*383_*386del, NM_001316327.2:c.*384_*386del, NM_001316327.2:c.*385_*386del, NM_001316327.2:c.*386del, NM_001316327.2:c.*386dup, NM_001316327.2:c.*385_*386dup, NM_001316327.2:c.*384_*386dup, NM_001316327.2:c.*383_*386dup, NM_001316327.2:c.*382_*386dup, NM_001316327.2:c.*381_*386dup, NM_001316327.1:c.*381_*386del, NM_001316327.1:c.*383_*386del, NM_001316327.1:c.*384_*386del, NM_001316327.1:c.*385_*386del, NM_001316327.1:c.*386del, NM_001316327.1:c.*386dup, NM_001316327.1:c.*385_*386dup, NM_001316327.1:c.*384_*386dup, NM_001316327.1:c.*383_*386dup, NM_001316327.1:c.*382_*386dup, NM_001316327.1:c.*381_*386dup, NM_001354676.2:c.*381_*386del, NM_001354676.2:c.*383_*386del, NM_001354676.2:c.*384_*386del, NM_001354676.2:c.*385_*386del, NM_001354676.2:c.*386del, NM_001354676.2:c.*386dup, NM_001354676.2:c.*385_*386dup, NM_001354676.2:c.*384_*386dup, NM_001354676.2:c.*383_*386dup, NM_001354676.2:c.*382_*386dup, NM_001354676.2:c.*381_*386dup, NM_001354676.1:c.*381_*386del, NM_001354676.1:c.*383_*386del, NM_001354676.1:c.*384_*386del, NM_001354676.1:c.*385_*386del, NM_001354676.1:c.*386del, NM_001354676.1:c.*386dup, NM_001354676.1:c.*385_*386dup, NM_001354676.1:c.*384_*386dup, NM_001354676.1:c.*383_*386dup, NM_001354676.1:c.*382_*386dup, NM_001354676.1:c.*381_*386dup, NM_001354678.2:c.*381_*386del, NM_001354678.2:c.*383_*386del, NM_001354678.2:c.*384_*386del, NM_001354678.2:c.*385_*386del, NM_001354678.2:c.*386del, NM_001354678.2:c.*386dup, NM_001354678.2:c.*385_*386dup, NM_001354678.2:c.*384_*386dup, NM_001354678.2:c.*383_*386dup, NM_001354678.2:c.*382_*386dup, NM_001354678.2:c.*381_*386dup, NM_001354678.1:c.*381_*386del, NM_001354678.1:c.*383_*386del, NM_001354678.1:c.*384_*386del, NM_001354678.1:c.*385_*386del, NM_001354678.1:c.*386del, NM_001354678.1:c.*386dup, NM_001354678.1:c.*385_*386dup, NM_001354678.1:c.*384_*386dup, NM_001354678.1:c.*383_*386dup, NM_001354678.1:c.*382_*386dup, NM_001354678.1:c.*381_*386dup, NW_004775426.1:g.41602_41607del, NW_004775426.1:g.41604_41607del, NW_004775426.1:g.41605_41607del, NW_004775426.1:g.41606_41607del, NW_004775426.1:g.41607del, NW_004775426.1:g.41607dup, NW_004775426.1:g.41606_41607dup, NW_004775426.1:g.41605_41607dup, NW_004775426.1:g.41604_41607dup, NW_004775426.1:g.41603_41607dup, NW_004775426.1:g.41602_41607dup, XM_047448564.1:c.*381_*386del, XM_047448564.1:c.*383_*386del, XM_047448564.1:c.*384_*386del, XM_047448564.1:c.*385_*386del, XM_047448564.1:c.*386del, XM_047448564.1:c.*386dup, XM_047448564.1:c.*385_*386dup, XM_047448564.1:c.*384_*386dup, XM_047448564.1:c.*383_*386dup, XM_047448564.1:c.*382_*386dup, XM_047448564.1:c.*381_*386dup

Select item 14909860758.

rs1490986075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:53174765 (GRCh38)
3:53208781 (GRCh37)
Canonical SPDI:: NC_000003.12:53174764:C:T
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.53174765C>T, NC_000003.11:g.53208781C>T, NG_033864.2:g.23757C>T, NW_004775426.1:g.23720C>T

Select item 14909480449.

rs1490948044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:53190707 (GRCh38)
3:53224723 (GRCh37)
Canonical SPDI:: NC_000003.12:53190706:C:A
Gene:: PRKCD (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)
HGVS:: NC_000003.12:g.53190707C>A, NC_000003.11:g.53224723C>A, NG_033864.2:g.39699C>A, NW_004775426.1:g.39662C>A

Select item 149087088410.

rs1490870884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:53159276 (GRCh38)
3:53193292 (GRCh37)
Canonical SPDI:: NC_000003.12:53159275:C:T
Gene:: PRKCD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000003.12:g.53159276C>T, NC_000003.11:g.53193292C>T, NG_033864.2:g.8268C>T, NW_004775426.1:g.8231C>T

Select item 149085727411.

rs1490857274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:53173596 (GRCh38)
3:53207612 (GRCh37)
Canonical SPDI:: NC_000003.12:53173595:C:T
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_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_000003.12:g.53173596C>T, NC_000003.11:g.53207612C>T, NG_033864.2:g.22588C>T, NM_001354680.2:c.-32C>T, NM_001354680.1:c.-32C>T, NM_001354679.2:c.-32C>T, NM_001354679.1:c.-32C>T, NW_004775426.1:g.22551C>T

Select item 149079628412.

rs1490796284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:53166915 (GRCh38)
3:53200931 (GRCh37)
Canonical SPDI:: NC_000003.12:53166914:T:C
Gene:: PRKCD (Varview)
Functional Consequence:: 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=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.53166915T>C, NC_000003.11:g.53200931T>C, NG_033864.2:g.15907T>C, NW_004775426.1:g.15870T>C

Select item 149076867413.

rs1490768674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:53182118 (GRCh38)
3:53216134 (GRCh37)
Canonical SPDI:: NC_000003.12:53182117:G:A,NC_000003.12:53182117:G:C
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000022/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.53182118G>A, NC_000003.12:g.53182118G>C, NC_000003.11:g.53216134G>A, NC_000003.11:g.53216134G>C, NG_033864.2:g.31110G>A, NG_033864.2:g.31110G>C, NW_004775426.1:g.31073G>A, NW_004775426.1:g.31073G>C

Select item 149055269114.

rs1490552691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:53182924 (GRCh38)
3:53216940 (GRCh37)
Canonical SPDI:: NC_000003.12:53182923:C:T
Gene:: PRKCD (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_000003.12:g.53182924C>T, NC_000003.11:g.53216940C>T, NG_033864.2:g.31916C>T, NW_004775426.1:g.31879C>T

Select item 149045283615.

rs1490452836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:53191218 (GRCh38)
3:53225234 (GRCh37)
Canonical SPDI:: NC_000003.12:53191217:A:G
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000135/19 (GnomAD)
G=0.000174/46 (TOPMED)
HGVS:: NC_000003.12:g.53191218A>G, NC_000003.11:g.53225234A>G, NG_033864.2:g.40210A>G, NW_004775426.1:g.40173A>G

Select item 149037600316.

rs1490376003 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:53159891 (GRCh38)
3:53193907 (GRCh37)
Canonical SPDI:: NC_000003.12:53159890:GGGGG:GGGG
Gene:: PRKCD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.53159895del, NC_000003.11:g.53193911del, NG_033864.2:g.8887del, NW_004775426.1:g.8850del

Select item 149022499817.

rs1490224998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:53182125 (GRCh38)
3:53216141 (GRCh37)
Canonical SPDI:: NC_000003.12:53182124:G:A
Gene:: PRKCD (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_000003.12:g.53182125G>A, NC_000003.11:g.53216141G>A, NG_033864.2:g.31117G>A, NW_004775426.1:g.31080G>A

Select item 149016687218.

rs1490166872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:53174239 (GRCh38)
3:53208255 (GRCh37)
Canonical SPDI:: NC_000003.12:53174238:A:G,NC_000003.12:53174238:A:T
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.53174239A>G, NC_000003.12:g.53174239A>T, NC_000003.11:g.53208255A>G, NC_000003.11:g.53208255A>T, NG_033864.2:g.23231A>G, NG_033864.2:g.23231A>T, NW_004775426.1:g.23194A>G, NW_004775426.1:g.23194A>T

Select item 149012813219.

rs1490128132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:53190064 (GRCh38)
3:53224080 (GRCh37)
Canonical SPDI:: NC_000003.12:53190063:C:A
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000157/22 (GnomAD)
A=0.000257/68 (TOPMED)
HGVS:: NC_000003.12:g.53190064C>A, NC_000003.11:g.53224080C>A, NG_033864.2:g.39056C>A, NW_004775426.1:g.39019C>A

Select item 148998361820.

rs1489983618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:53165415 (GRCh38)
3:53199431 (GRCh37)
Canonical SPDI:: NC_000003.12:53165414:C:T
Gene:: PRKCD (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000003.12:g.53165415C>T, NC_000003.11:g.53199431C>T, NG_033864.2:g.14407C>T, NW_004775426.1:g.14370C>T

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