rs2071862

Homo sapiens
G>A
CRYBA4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0179 (21574/120052,ExAC)
A=0153 (4579/29894,GnomAD)
A=0138 (4033/29116,TOPMED)
G==0137 (1789/13006,GO-ESP)
A=0206 (1033/5008,1000G)
A=0136 (523/3854,ALSPAC)
A=0133 (495/3708,TWINSUK)
chr22:26625437 (GRCh38.p7) (22q12.1)
AD
GWASdb2
3   publication(s)
See rs on genome
125 Enhancers around
27 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.26625437G>A
GRCh37.p13 chr 22NC_000022.10:g.27021401G>A
CRYBA4 RefSeqGeneNG_009825.1:g.8474G>A

Gene: CRYBA4, crystallin beta A4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CRYBA4 transcriptNM_001886.2:c.N/AIntron Variant
CRYBA4 transcript variant X2XM_006724140.3:c.N/AIntron Variant
CRYBA4 transcript variant X1XM_017028598.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.868A=0.132
1000GenomesAmericanSub694G=0.860A=0.140
1000GenomesEast AsianSub1008G=0.626A=0.374
1000GenomesEuropeSub1006G=0.881A=0.119
1000GenomesGlobalStudy-wide5008G=0.794A=0.206
1000GenomesSouth AsianSub978G=0.730A=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.864A=0.136
The Exome Aggregation ConsortiumAmericanSub21760G=0.841A=0.158
The Exome Aggregation ConsortiumAsianSub24784G=0.710A=0.289
The Exome Aggregation ConsortiumEuropeSub72612G=0.851A=0.148
The Exome Aggregation ConsortiumGlobalStudy-wide120052G=0.820A=0.179
The Exome Aggregation ConsortiumOtherSub896G=0.830A=0.170
The Genome Aggregation DatabaseAfricanSub8708G=0.872A=0.128
The Genome Aggregation DatabaseAmericanSub838G=0.850A=0.150
The Genome Aggregation DatabaseEast AsianSub1600G=0.611A=0.389
The Genome Aggregation DatabaseEuropeSub18446G=0.856A=0.143
The Genome Aggregation DatabaseGlobalStudy-wide29894G=0.846A=0.153
The Genome Aggregation DatabaseOtherSub302G=0.810A=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.861A=0.138
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.867A=0.133
PMID Title Author Journal
22792142Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus.Ho DWPLoS One
21940522Genome-wide association scan for childhood caries implicates novel genes.Shaffer JRJ Dent Res
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs20718620.000686alcohol dependence24277619

eQTL of rs2071862 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 rs2071862 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 )
chr222698088226981692E067-39709
chr222698249426983060E067-38341
chr222698307426983146E067-38255
chr222698315926983373E067-38028
chr222700619327006794E067-14607
chr222700682027006879E067-14522
chr222704223427042463E06720833
chr222704454327045352E06723142
chr222704536527045409E06723964
chr222706127127062203E06739870
chr222706220827062372E06740807
chr222706251627062560E06741115
chr222706256227062602E06741161
chr222706267227062722E06741271
chr222706275727062797E06741356
chr222706285627062896E06741455
chr222706308627063160E06741685
chr222706319327063401E06741792
chr222700682027006879E068-14522
chr222700696827007447E068-13954
chr222701522227015323E068-6078
chr222704536527045409E06823964
chr222704542227045527E06824021
chr222705674827056848E06835347
chr222705690927057003E06835508
chr222705707027057473E06835669
chr222705758427057776E06836183
chr222707126027071358E06849859
chr222698088226981692E069-39709
chr222700619327006794E069-14607
chr222700682027006879E069-14522
chr222700696827007447E069-13954
chr222704361327044511E06922212
chr222705758427057776E06936183
chr222707126027071358E06949859
chr222704059827042209E07019197
chr222704223427042463E07020833
chr222704252527042687E07021124
chr222704270027042771E07021299
chr222704277827042892E07021377
chr222704298827043065E07021587
chr222704310427043211E07021703
chr222704322727043336E07021826
chr222704351227043604E07022111
chr222704454327045352E07023142
chr222704536527045409E07023964
chr222705651827056571E07035117
chr222705821527058269E07036814
chr222705834827058398E07036947
chr222705856627058831E07037165
chr222705885027058912E07037449
chr222707126027071358E07049859
chr222698088226981692E071-39709
chr222700619327006794E071-14607
chr222700682027006879E071-14522
chr222700696827007447E071-13954
chr222701230827012418E071-8983
chr222701245927012499E071-8902
chr222698088226981692E072-39709
chr222698795326988852E072-32549
chr222698885426988950E072-32451
chr222700682027006879E072-14522
chr222704223427042463E07220833
chr222704351227043604E07222111
chr222704361327044511E07222212
chr222705707027057473E07235669
chr222705758427057776E07236183
chr222705778927057839E07236388
chr222698088226981692E073-39709
chr222698307426983146E073-38255
chr222700619327006794E073-14607
chr222700682027006879E073-14522
chr222700696827007447E073-13954
chr222704454327045352E07323142
chr222704536527045409E07323964
chr222704542227045527E07324021
chr222705778927057839E07336388
chr222705793527057994E07336534
chr222705807627058126E07336675
chr222705821527058269E07336814
chr222705834827058398E07336947
chr222705856627058831E07337165
chr222705885027058912E07337449
chr222705929227059354E07337891
chr222705936827059469E07337967
chr222706220827062372E07340807
chr222706251627062560E07341115
chr222706256227062602E07341161
chr222707126027071358E07349859
chr222700682027006879E074-14522
chr222704059827042209E08119197
chr222704310427043211E08121703
chr222704322727043336E08121826
chr222704351227043604E08122111
chr222704361327044511E08122212
chr222704454327045352E08123142
chr222705557427055624E08134173
chr222705651827056571E08135117
chr222705707027057473E08135669
chr222705758427057776E08136183
chr222705778927057839E08136388
chr222705793527057994E08136534
chr222705807627058126E08136675
chr222705821527058269E08136814
chr222705834827058398E08136947
chr222705856627058831E08137165
chr222705885027058912E08137449
chr222706319327063401E08141792
chr222706350527063751E08142104
chr222704059827042209E08219197
chr222704223427042463E08220833
chr222704351227043604E08222111
chr222704361327044511E08222212
chr222705778927057839E08236388
chr222705793527057994E08236534
chr222705807627058126E08236675
chr222705821527058269E08236814
chr222705834827058398E08236947
chr222705929227059354E08237891
chr222706127127062203E08239870
chr222706220827062372E08240807
chr222706251627062560E08241115
chr222706256227062602E08241161
chr222706267227062722E08241271
chr222706275727062797E08241356










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr222698455426986979E067-34422
chr222705292827054034E06731527
chr222705409527055443E06732694
chr222698455426986979E068-34422
chr222705292827054034E06831527
chr222705409527055443E06832694
chr222698455426986979E069-34422
chr222705292827054034E06931527
chr222705409527055443E06932694
chr222698455426986979E070-34422
chr222705292827054034E07031527
chr222698455426986979E071-34422
chr222698455426986979E072-34422
chr222705292827054034E07231527
chr222705409527055443E07232694
chr222698455426986979E073-34422
chr222705292827054034E07331527
chr222705409527055443E07332694
chr222698455426986979E074-34422
chr222705292827054034E07431527
chr222705409527055443E07432694
chr222698455426986979E081-34422
chr222705292827054034E08131527
chr222705409527055443E08132694
chr222698455426986979E082-34422
chr222705292827054034E08231527
chr222705409527055443E08232694