rs7712997

Homo sapiens
G>T
C5orf66 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0204 (6105/29904,GnomAD)
T=0259 (7543/29118,TOPMED)
T=0225 (1126/5008,1000G)
T=0140 (539/3854,ALSPAC)
T=0135 (499/3708,TWINSUK)
chr5:135327407 (GRCh38.p7) (5q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
97 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.135327407G>T
GRCh37.p13 chr 5NC_000005.9:g.134663097G>T

Gene: C5orf66, chromosome 5 open reading frame 66(plus strand)

Molecule type Change Amino acid[Codon] SO Term
C5orf66 transcriptNM_001277348.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.512T=0.488
1000GenomesAmericanSub694G=0.840T=0.160
1000GenomesEast AsianSub1008G=0.911T=0.089
1000GenomesEuropeSub1006G=0.873T=0.127
1000GenomesGlobalStudy-wide5008G=0.775T=0.225
1000GenomesSouth AsianSub978G=0.840T=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.860T=0.140
The Genome Aggregation DatabaseAfricanSub8684G=0.594T=0.406
The Genome Aggregation DatabaseAmericanSub838G=0.820T=0.180
The Genome Aggregation DatabaseEast AsianSub1620G=0.898T=0.102
The Genome Aggregation DatabaseEuropeSub18460G=0.880T=0.119
The Genome Aggregation DatabaseGlobalStudy-wide29904G=0.795T=0.204
The Genome Aggregation DatabaseOtherSub302G=0.810T=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.741T=0.259
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.865T=0.135
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
rs77129970.000715alcohol dependence20201924

eQTL of rs7712997 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 rs7712997 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 )
chr5134671189134671325E0678092
chr5134671359134671447E0678262
chr5134671676134671767E0678579
chr5134671831134672082E0678734
chr5134672199134672251E0679102
chr5134672384134672440E0679287
chr5134672777134673055E0679680
chr5134673305134673358E06710208
chr5134689698134690413E06726601
chr5134690510134690738E06727413
chr5134691003134691195E06727906
chr5134691286134691496E06728189
chr5134672777134673055E0689680
chr5134673305134673358E06810208
chr5134689698134690413E06826601
chr5134690510134690738E06827413
chr5134691003134691195E06827906
chr5134691286134691496E06828189
chr5134691533134691595E06828436
chr5134691641134691697E06828544
chr5134691991134692213E06828894
chr5134692244134692523E06829147
chr5134692531134692815E06829434
chr5134692915134693056E06829818
chr5134709541134709659E06846444
chr5134709709134710116E06846612
chr5134710130134710290E06847033
chr5134710852134711064E06847755
chr5134711241134711329E06848144
chr5134711370134711482E06848273
chr5134711489134711671E06848392
chr5134663636134663702E069539
chr5134672384134672440E0699287
chr5134672777134673055E0699680
chr5134673305134673358E06910208
chr5134689698134690413E06926601
chr5134690510134690738E06927413
chr5134691003134691195E06927906
chr5134711241134711329E06948144
chr5134711370134711482E06948273
chr5134711489134711671E06948392
chr5134712594134712693E06949497
chr5134663523134663589E070426
chr5134663636134663702E070539
chr5134663841134663891E070744
chr5134672384134672440E0719287
chr5134672777134673055E0719680
chr5134673305134673358E07110208
chr5134689698134690413E07126601
chr5134690510134690738E07127413
chr5134691003134691195E07127906
chr5134691991134692213E07128894
chr5134692244134692523E07129147
chr5134692531134692815E07129434
chr5134692915134693056E07129818
chr5134709709134710116E07146612
chr5134710130134710290E07147033
chr5134710852134711064E07147755
chr5134711241134711329E07148144
chr5134711370134711482E07148273
chr5134711489134711671E07148392
chr5134712594134712693E07149497
chr5134663523134663589E072426
chr5134672384134672440E0729287
chr5134672777134673055E0729680
chr5134673305134673358E07210208
chr5134680521134680658E07217424
chr5134689698134690413E07226601
chr5134690510134690738E07227413
chr5134691991134692213E07228894
chr5134692244134692523E07229147
chr5134692531134692815E07229434
chr5134692915134693056E07229818
chr5134662608134662947E073-150
chr5134672777134673055E0739680
chr5134673305134673358E07310208
chr5134689698134690413E07326601
chr5134690510134690738E07327413
chr5134709541134709659E07346444
chr5134709709134710116E07346612
chr5134710130134710290E07347033
chr5134672777134673055E0749680
chr5134689698134690413E07426601
chr5134690510134690738E07427413
chr5134691003134691195E07427906
chr5134691286134691496E07428189
chr5134691533134691595E07428436
chr5134691641134691697E07428544
chr5134691991134692213E07428894
chr5134692244134692523E07429147
chr5134668236134668639E0815139
chr5134668236134668639E0825139
chr5134668966134669055E0825869
chr5134671189134671325E0828092
chr5134671359134671447E0828262
chr5134671676134671767E0828579
chr5134712594134712693E08249497