rs10500299

Homo sapiens
C>T
CARD8 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0290 (35255/121390,ExAC)
T=0257 (7687/29896,GnomAD)
T=0251 (7330/29118,TOPMED)
C==0257 (3349/13006,GO-ESP)
T=0260 (1300/5008,1000G)
T=0287 (1106/3854,ALSPAC)
T=0274 (1015/3708,TWINSUK)
chr19:48218923 (GRCh38.p7) (19q13.33)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.48218923C>T
GRCh37.p13 chr 19NC_000019.9:g.48722180C>T
CARD8 RefSeqGeneNG_029574.1:g.42024G>A

Gene: CARD8, caspase recruitment domain family member 8(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CARD8 transcript variant 4NM_001184902.1:c.N/AIntron Variant
CARD8 transcript variant 5NM_001184903.1:c.N/AIntron Variant
CARD8 transcript variant 6NM_001184904.1:c.N/AGenic Downstream Transcript Variant
CARD8 transcript variant 1NM_001184900.1:c....NM_001184900.1:c.1251G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform aNP_001171829.1:p....NP_001171829.1:p.Glu417=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant 2NM_014959.3:c.110...NM_014959.3:c.1101G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform bNP_055774.2:p.Glu...NP_055774.2:p.Glu367=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant 3NM_001184901.1:c....NM_001184901.1:c.1101G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform bNP_001171830.1:p....NP_001171830.1:p.Glu367=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant 7NR_033678.1:n.121...NR_033678.1:n.1211G>AG>ANon Coding Transcript Variant
CARD8 transcript variant 8NR_033679.1:n.125...NR_033679.1:n.1253G>AG>ANon Coding Transcript Variant
CARD8 transcript variant 9NR_033680.1:n.N/AIntron Variant
CARD8 transcript variant X31XM_006723106.3:c.N/AIntron Variant
CARD8 transcript variant X31XM_006723107.3:c.N/AIntron Variant
CARD8 transcript variant X34XM_006723109.3:c.N/AIntron Variant
CARD8 transcript variant X28XM_011526650.2:c.N/AIntron Variant
CARD8 transcript variant X39XM_011526653.2:c.N/AIntron Variant
CARD8 transcript variant X29XM_017026490.1:c.N/AIntron Variant
CARD8 transcript variant X36XM_017026492.1:c.N/AIntron Variant
CARD8 transcript variant X37XM_017026493.1:c.N/AIntron Variant
CARD8 transcript variant X38XM_017026494.1:c.N/AIntron Variant
CARD8 transcript variant X40XM_017026495.1:c.N/AIntron Variant
CARD8 transcript variant X41XM_017026496.1:c.N/AIntron Variant
CARD8 transcript variant X42XM_017026497.1:c.N/AIntron Variant
CARD8 transcript variant X35XM_017026498.1:c.N/AIntron Variant
CARD8 transcript variant X36XM_017026499.1:c.N/AIntron Variant
CARD8 transcript variant X37XM_006723110.3:c.N/AGenic Downstream Transcript Variant
CARD8 transcript variant X33XM_017026491.1:c.N/AGenic Downstream Transcript Variant
CARD8 transcript variant X23XM_006723101.2:c....XM_006723101.2:c.936G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X10XP_006723164.1:p....XP_006723164.1:p.Glu312=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X1XM_006723091.3:c....XM_006723091.3:c.1251G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X1XP_006723154.1:p....XP_006723154.1:p.Glu417=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X2XM_006723092.3:c....XM_006723092.3:c.1251G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X1XP_006723155.1:p....XP_006723155.1:p.Glu417=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X3XM_011526641.2:c....XM_011526641.2:c.1251G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X1XP_011524943.1:p....XP_011524943.1:p.Glu417=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X4XM_011526642.2:c....XM_011526642.2:c.1251G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X1XP_011524944.1:p....XP_011524944.1:p.Glu417=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X5XM_006723093.3:c....XM_006723093.3:c.1251G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X1XP_006723156.1:p....XP_006723156.1:p.Glu417=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X6XM_011526643.2:c....XM_011526643.2:c.1251G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X1XP_011524945.1:p....XP_011524945.1:p.Glu417=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X7XM_011526644.2:c....XM_011526644.2:c.1251G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X1XP_011524946.1:p....XP_011524946.1:p.Glu417=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X8XM_006723094.3:c....XM_006723094.3:c.1248G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X2XP_006723157.1:p....XP_006723157.1:p.Glu416=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X9XM_017026482.1:c....XM_017026482.1:c.1248G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X2XP_016881971.1:p....XP_016881971.1:p.Glu416=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X10XM_006723095.3:c....XM_006723095.3:c.1101G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X3XP_006723158.1:p....XP_006723158.1:p.Glu367=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X11XM_006723096.3:c....XM_006723096.3:c.1101G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X3XP_006723159.1:p....XP_006723159.1:p.Glu367=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X12XM_006723097.3:c....XM_006723097.3:c.1101G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X3XP_006723160.1:p....XP_006723160.1:p.Glu367=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X13XM_017026483.1:c....XM_017026483.1:c.1101G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X3XP_016881972.1:p....XP_016881972.1:p.Glu367=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X14XM_017026484.1:c....XM_017026484.1:c.1098G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X4XP_016881973.1:p....XP_016881973.1:p.Glu366=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X16XM_011526646.2:c....XM_011526646.2:c.1032G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X5XP_011524948.1:p....XP_011524948.1:p.Glu344=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X15XM_017026485.1:c....XM_017026485.1:c.1251G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X6XP_016881974.1:p....XP_016881974.1:p.Glu417=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X18XM_011526647.2:c....XM_011526647.2:c.1032G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X5XP_011524949.1:p....XP_011524949.1:p.Glu344=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X19XM_011526648.2:c....XM_011526648.2:c.1029G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X7XP_011524950.1:p....XP_011524950.1:p.Glu343=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X18XM_006723098.3:c....XM_006723098.3:c.1008G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X8XP_006723161.1:p....XP_006723161.1:p.Glu336=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X21XM_006723099.3:c....XM_006723099.3:c.1008G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X8XP_006723162.1:p....XP_006723162.1:p.Glu336=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X22XM_017026486.1:c....XM_017026486.1:c.1005G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X9XP_016881975.1:p....XP_016881975.1:p.Glu335=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X24XM_006723102.3:c....XM_006723102.3:c.936G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X10XP_006723165.1:p....XP_006723165.1:p.Glu312=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X23XM_006723104.3:c....XM_006723104.3:c.933G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X11XP_006723167.1:p....XP_006723167.1:p.Glu311=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X26XM_017026487.1:c....XM_017026487.1:c.915G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X13XP_016881976.1:p....XP_016881976.1:p.Glu305=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X27XM_017026488.1:c....XM_017026488.1:c.915G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X13XP_016881977.1:p....XP_016881977.1:p.Glu305=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X28XM_017026489.1:c....XM_017026489.1:c.915G>AE [GAG]> E [GAA]Coding Sequence Variant
caspase recruitment domain-containing protein 8 isoform X12XP_016881978.1:p....XP_016881978.1:p.Glu305=E [Glu]> E [Glu]Synonymous Variant
CARD8 transcript variant X13XR_001753636.1:n....XR_001753636.1:n.1488G>AG>ANon Coding Transcript Variant
CARD8 transcript variant X35XR_430193.2:n.163...XR_430193.2:n.1638G>AG>ANon Coding Transcript Variant
CARD8 transcript variant X32XR_001753637.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.796T=0.204
1000GenomesAmericanSub694C=0.650T=0.350
1000GenomesEast AsianSub1008C=0.823T=0.177
1000GenomesEuropeSub1006C=0.753T=0.247
1000GenomesGlobalStudy-wide5008C=0.740T=0.260
1000GenomesSouth AsianSub978C=0.630T=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.713T=0.287
The Exome Aggregation ConsortiumAmericanSub21978C=0.680T=0.319
The Exome Aggregation ConsortiumAsianSub25154C=0.692T=0.307
The Exome Aggregation ConsortiumEuropeSub73350C=0.723T=0.276
The Exome Aggregation ConsortiumGlobalStudy-wide121390C=0.709T=0.290
The Exome Aggregation ConsortiumOtherSub908C=0.750T=0.250
The Genome Aggregation DatabaseAfricanSub8706C=0.796T=0.204
The Genome Aggregation DatabaseAmericanSub836C=0.620T=0.380
The Genome Aggregation DatabaseEast AsianSub1614C=0.787T=0.213
The Genome Aggregation DatabaseEuropeSub18440C=0.720T=0.279
The Genome Aggregation DatabaseGlobalStudy-wide29896C=0.742T=0.257
The Genome Aggregation DatabaseOtherSub300C=0.680T=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.748T=0.251
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.726T=0.274
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs105002996.05E-05alcohol consumptionpha001401

eQTL of rs10500299 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:48722180CCDC114ENSG00000105479.11C>T2.6654e-10-101888Cortex

meQTL of rs10500299 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr194867475648675039E067-47141
chr194867508748675352E067-46828
chr194869606548696105E067-26075
chr194869616648696241E067-25939
chr194867475648675039E068-47141
chr194869577748695817E068-26363
chr194869606548696105E068-26075
chr194870646448706555E068-15625
chr194875386248753984E06831682
chr194867475648675039E069-47141
chr194867508748675352E069-46828
chr194869350648694248E069-27932
chr194869606548696105E069-26075
chr194869616648696241E069-25939
chr194869645548696509E069-25671
chr194869662348696664E069-25516
chr194870833448708416E069-13764
chr194871710348717255E069-4925
chr194871732648717522E069-4658
chr194867542148675509E070-46671
chr194867552948675569E070-46611
chr194870020748700488E070-21692
chr194870051648700922E070-21258
chr194867475648675039E071-47141
chr194869350648694248E071-27932
chr194869577748695817E071-26363
chr194869606548696105E071-26075
chr194869616648696241E071-25939
chr194869645548696509E071-25671
chr194869662348696664E071-25516
chr194869680148696904E071-25276
chr194870020748700488E071-21692
chr194870051648700922E071-21258
chr194870646448706555E071-15625
chr194874345748743568E07121277
chr194869350648694248E072-27932
chr194869538148695434E072-26746
chr194869577748695817E072-26363
chr194869606548696105E072-26075
chr194869616648696241E072-25939
chr194869645548696509E072-25671
chr194870833448708416E072-13764
chr194870896548709015E072-13165
chr194867475648675039E073-47141
chr194869645548696509E073-25671
chr194869662348696664E073-25516
chr194869680148696904E073-25276
chr194870646448706555E073-15625
chr194869616648696241E074-25939
chr194869645548696509E074-25671
chr194869662348696664E074-25516
chr194869680148696904E074-25276
chr194869693848697016E074-25164
chr194867475648675039E081-47141
chr194867508748675352E081-46828
chr194869350648694248E081-27932
chr194875716148757291E08134981
chr194875754348757593E08135363
chr194867508748675352E082-46828
chr194869435648694415E082-27765










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194867240348674727E067-47453
chr194870656248708177E067-14003
chr194875858248759561E06736402
chr194876283348763728E06740653
chr194867240348674727E068-47453
chr194870656248708177E068-14003
chr194875265748753405E06830477
chr194875858248759561E06836402
chr194876283348763728E06840653
chr194867240348674727E069-47453
chr194870656248708177E069-14003
chr194875858248759561E06936402
chr194876283348763728E06940653
chr194867240348674727E070-47453
chr194870656248708177E070-14003
chr194875858248759561E07036402
chr194876283348763728E07040653
chr194867240348674727E071-47453
chr194870656248708177E071-14003
chr194875858248759561E07136402
chr194876283348763728E07140653
chr194867240348674727E072-47453
chr194870656248708177E072-14003
chr194875858248759561E07236402
chr194876283348763728E07240653
chr194867240348674727E073-47453
chr194870656248708177E073-14003
chr194875858248759561E07336402
chr194876283348763728E07340653
chr194867240348674727E074-47453
chr194870656248708177E074-14003
chr194875858248759561E07436402
chr194876283348763728E07440653
chr194867240348674727E081-47453
chr194870656248708177E081-14003
chr194875858248759561E08136402
chr194867240348674727E082-47453
chr194870656248708177E082-14003
chr194875858248759561E08236402