rs112196420

Homo sapiens
G>A / G>T
FRMD4B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0020 (620/29990,GnomAD)
T=0012 (60/5008,1000G)
T=0032 (122/3854,ALSPAC)
T=0028 (104/3708,TWINSUK)
chr3:69450652 (GRCh38.p7) (3p14.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
29 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.69450652G>A
GRCh38.p7 chr 3NC_000003.12:g.69450652G>T
GRCh37.p13 chr 3NC_000003.11:g.69499803G>A
GRCh37.p13 chr 3NC_000003.11:g.69499803G>T

Gene: FRMD4B, FERM domain containing 4B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FRMD4B transcriptNM_015123.2:c.N/AGenic Upstream Transcript Variant
FRMD4B transcript variant X3XM_017005991.1:c.N/AIntron Variant
FRMD4B transcript variant X5XM_005264722.1:c.N/AGenic Upstream Transcript Variant
FRMD4B transcript variant X11XM_005264723.1:c.N/AGenic Upstream Transcript Variant
FRMD4B transcript variant X1XM_017005989.1:c.N/AGenic Upstream Transcript Variant
FRMD4B transcript variant X2XM_017005990.1:c.N/AGenic Upstream Transcript Variant
FRMD4B transcript variant X4XM_017005992.1:c.N/AGenic Upstream Transcript Variant
FRMD4B transcript variant X6XM_017005993.1:c.N/AGenic Upstream Transcript Variant
FRMD4B transcript variant X7XM_017005994.1:c.N/AGenic Upstream Transcript Variant
FRMD4B transcript variant X8XM_017005995.1:c.N/AGenic Upstream Transcript Variant
FRMD4B transcript variant X9XM_017005996.1:c.N/AGenic Upstream Transcript Variant
FRMD4B transcript variant X10XM_017005997.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.997T=0.003
1000GenomesAmericanSub694G=0.970T=0.030
1000GenomesEast AsianSub1008G=1.000T=0.000
1000GenomesEuropeSub1006G=0.975T=0.025
1000GenomesGlobalStudy-wide5008G=0.988T=0.012
1000GenomesSouth AsianSub978G=0.990T=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.968T=0.032
The Genome Aggregation DatabaseAfricanSub8732G=0.993T=0.007
The Genome Aggregation DatabaseAmericanSub838G=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1622G=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18496G=0.971T=0.028
The Genome Aggregation DatabaseGlobalStudy-wide29990G=0.979T=0.020
The Genome Aggregation DatabaseOtherSub302G=0.990T=0.010
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.972T=0.028
PMID Title Author Journal
28040410A genome wide association study of fast beta EEG in families of European ancestry.Meyers JLInt J Psychophysiol

P-Value

SNP ID p-value Traits Study
rs1121964202E-07alcohol dependence28040410

eQTL of rs112196420 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 rs112196420 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 )
chr353396385339830E067-37285
chr353465955347541E067-29574
chr353396385339830E068-37285
chr353887755388869E06811660
chr353890605389215E06811945
chr353892535389510E06812138
chr353632605364011E070-13104
chr353645365364683E070-12432
chr353647705364828E070-12287
chr353651495365206E070-11909
chr353851635385386E0708048
chr353855285385594E0708413
chr353858935386359E0708778
chr353887755388869E07011660
chr353890605389215E07011945
chr353892535389510E07012138
chr353895645389678E07012449
chr353897805390220E07012665
chr353903625390434E07013247
chr353911285391211E07014013
chr353419535342098E081-35017
chr353421435342379E081-34736
chr353424475342791E081-34324
chr353432875343957E081-33158
chr353440435344161E081-32954
chr353645365364683E081-12432
chr353421435342379E082-34736
chr353424475342791E082-34324
chr353432875343957E082-33158