rs12146448

Homo sapiens
C>A / C>T
EXPH5 : Missense Variant
LOC101928561 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0022 (670/29970,GnomAD)
A=0023 (697/29118,TOPMED)
C==0028 (374/12998,GO-ESP)
A=0018 (92/5008,1000G)
A=0036 (140/3854,ALSPAC)
A=0039 (145/3708,TWINSUK)
chr11:108513934 (GRCh38.p7) (11q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.108513934C>A
GRCh38.p7 chr 11NC_000011.10:g.108513934C>T
GRCh37.p13 chr 11NC_000011.9:g.108384661C>A
GRCh37.p13 chr 11NC_000011.9:g.108384661C>T
EXPH5 RefSeqGeneNG_042852.1:g.84805G>T
EXPH5 RefSeqGeneNG_042852.1:g.84805G>A

Gene: EXPH5, exophilin 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EXPH5 transcript variant 1NM_015065.2:c.157...NM_015065.2:c.1573G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform 1NP_055880.2:p.Val...NP_055880.2:p.Val525PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant 1NM_015065.2:c.157...NM_015065.2:c.1573G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform 1NP_055880.2:p.Val...NP_055880.2:p.Val525IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant 4NM_001144763.1:c....NM_001144763.1:c.1345G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform 4NP_001138235.1:p....NP_001138235.1:p.Val449PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant 4NM_001144763.1:c....NM_001144763.1:c.1345G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform 4NP_001138235.1:p....NP_001138235.1:p.Val449IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant 3NM_001144765.1:c....NM_001144765.1:c.1009G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform 3NP_001138237.1:p....NP_001138237.1:p.Val337PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant 3NM_001144765.1:c....NM_001144765.1:c.1009G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform 3NP_001138237.1:p....NP_001138237.1:p.Val337IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant 2NM_001308019.1:c....NM_001308019.1:c.1552G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform 2NP_001294948.1:p....NP_001294948.1:p.Val518PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant 2NM_001308019.1:c....NM_001308019.1:c.1552G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform 2NP_001294948.1:p....NP_001294948.1:p.Val518IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant 5NM_001144764.1:c....NM_001144764.1:c.1105G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform 5NP_001138236.1:p....NP_001138236.1:p.Val369PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant 5NM_001144764.1:c....NM_001144764.1:c.1105G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform 5NP_001138236.1:p....NP_001138236.1:p.Val369IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant X1XM_017017397.1:c....XM_017017397.1:c.1345G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform X1XP_016872886.1:p....XP_016872886.1:p.Val449PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant X1XM_017017397.1:c....XM_017017397.1:c.1345G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform X1XP_016872886.1:p....XP_016872886.1:p.Val449IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant X2XM_017017398.1:c....XM_017017398.1:c.1342G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform X2XP_016872887.1:p....XP_016872887.1:p.Val448PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant X2XM_017017398.1:c....XM_017017398.1:c.1342G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform X2XP_016872887.1:p....XP_016872887.1:p.Val448IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant X3XM_017017399.1:c....XM_017017399.1:c.1345G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform X1XP_016872888.1:p....XP_016872888.1:p.Val449PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant X3XM_017017399.1:c....XM_017017399.1:c.1345G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform X1XP_016872888.1:p....XP_016872888.1:p.Val449IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant X4XM_011542696.2:c....XM_011542696.2:c.1345G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform X1XP_011540998.1:p....XP_011540998.1:p.Val449PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant X4XM_011542696.2:c....XM_011542696.2:c.1345G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform X1XP_011540998.1:p....XP_011540998.1:p.Val449IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant X5XM_017017400.1:c....XM_017017400.1:c.1345G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform X1XP_016872889.1:p....XP_016872889.1:p.Val449PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant X5XM_017017400.1:c....XM_017017400.1:c.1345G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform X1XP_016872889.1:p....XP_016872889.1:p.Val449IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant X6XM_011542698.2:c....XM_011542698.2:c.1345G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform X1XP_011541000.1:p....XP_011541000.1:p.Val449PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant X6XM_011542698.2:c....XM_011542698.2:c.1345G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform X1XP_011541000.1:p....XP_011541000.1:p.Val449IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant X7XM_011542700.2:c....XM_011542700.2:c.1345G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform X1XP_011541002.1:p....XP_011541002.1:p.Val449PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant X7XM_011542700.2:c....XM_011542700.2:c.1345G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform X1XP_011541002.1:p....XP_011541002.1:p.Val449IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant X8XM_017017401.1:c....XM_017017401.1:c.1342G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform X2XP_016872890.1:p....XP_016872890.1:p.Val448PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant X8XM_017017401.1:c....XM_017017401.1:c.1342G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform X2XP_016872890.1:p....XP_016872890.1:p.Val448IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant X9XM_017017402.1:c....XM_017017402.1:c.1105G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform X3XP_016872891.1:p....XP_016872891.1:p.Val369PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant X9XM_017017402.1:c....XM_017017402.1:c.1105G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform X3XP_016872891.1:p....XP_016872891.1:p.Val369IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant X10XM_017017403.1:c....XM_017017403.1:c.1102G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform X4XP_016872892.1:p....XP_016872892.1:p.Val368PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant X10XM_017017403.1:c....XM_017017403.1:c.1102G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform X4XP_016872892.1:p....XP_016872892.1:p.Val368IleV [Val]> I [Ile]Missense Variant
EXPH5 transcript variant X11XM_017017404.1:c....XM_017017404.1:c.1009G>TV [GTT]> F [TTT]Coding Sequence Variant
exophilin-5 isoform X5XP_016872893.1:p....XP_016872893.1:p.Val337PheV [Val]> F [Phe]Missense Variant
EXPH5 transcript variant X11XM_017017404.1:c....XM_017017404.1:c.1009G>AV [GTT]> I [ATT]Coding Sequence Variant
exophilin-5 isoform X5XP_016872893.1:p....XP_016872893.1:p.Val337IleV [Val]> I [Ile]Missense Variant

Gene: LOC101928561, uncharacterized LOC101928561(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101928561 transcript variant X2XR_246464.3:n.N/AIntron Variant
LOC101928561 transcriptXR_001748367.1:n.N/AGenic Upstream Transcript Variant
LOC112267909 transcriptXR_947995.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.998A=0.002
1000GenomesAmericanSub694C=0.980A=0.020
1000GenomesEast AsianSub1008C=0.985A=0.015
1000GenomesEuropeSub1006C=0.962A=0.038
1000GenomesGlobalStudy-wide5008C=0.982A=0.018
1000GenomesSouth AsianSub978C=0.980A=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.964A=0.036
The Genome Aggregation DatabaseAfricanSub8720C=0.992A=0.008
The Genome Aggregation DatabaseAmericanSub836C=0.980A=0.020
The Genome Aggregation DatabaseEast AsianSub1620C=0.988A=0.012
The Genome Aggregation DatabaseEuropeSub18492C=0.970A=0.029
The Genome Aggregation DatabaseGlobalStudy-wide29970C=0.977A=0.022
The Genome Aggregation DatabaseOtherSub302C=0.950A=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.976A=0.023
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.961A=0.039
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs121464480.00085alcohol dependence20201924

eQTL of rs12146448 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs12146448 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.