rs12805648

Homo sapiens
A>T
OLFML1 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0177 (21494/121184,ExAC)
T=0167 (5026/29954,GnomAD)
T=0158 (4619/29118,TOPMED)
A==0156 (2034/12994,GO-ESP)
T=0166 (833/5008,1000G)
T=0176 (679/3854,ALSPAC)
T=0176 (652/3708,TWINSUK)
chr11:7488335 (GRCh38.p7) (11p15.4)
ND
GWASdb2
1   publication(s)
See rs on genome
248 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.7488335A>T
GRCh37.p13 chr 11NC_000011.9:g.7509566A>T

Gene: OLFML1, olfactomedin like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
OLFML1 transcriptNM_198474.3:c.338A>TE [GAA]> V [GTA]Coding Sequence Variant
olfactomedin-like protein 1 precursorNP_940876.2:p.Glu...NP_940876.2:p.Glu113ValE [Glu]> V [Val]Missense Variant
OLFML1 transcript variant X1XM_005252878.4:c....XM_005252878.4:c.338A>TE [GAA]> V [GTA]Coding Sequence Variant
olfactomedin-like protein 1 isoform X1XP_005252935.1:p....XP_005252935.1:p.Glu113ValE [Glu]> V [Val]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.873T=0.127
1000GenomesAmericanSub694A=0.780T=0.220
1000GenomesEast AsianSub1008A=0.844T=0.156
1000GenomesEuropeSub1006A=0.811T=0.189
1000GenomesGlobalStudy-wide5008A=0.834T=0.166
1000GenomesSouth AsianSub978A=0.830T=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.824T=0.176
The Exome Aggregation ConsortiumAmericanSub21934A=0.797T=0.202
The Exome Aggregation ConsortiumAsianSub25086A=0.850T=0.149
The Exome Aggregation ConsortiumEuropeSub73256A=0.820T=0.179
The Exome Aggregation ConsortiumGlobalStudy-wide121184A=0.822T=0.177
The Exome Aggregation ConsortiumOtherSub908A=0.850T=0.150
The Genome Aggregation DatabaseAfricanSub8718A=0.861T=0.139
The Genome Aggregation DatabaseAmericanSub838A=0.760T=0.240
The Genome Aggregation DatabaseEast AsianSub1618A=0.807T=0.193
The Genome Aggregation DatabaseEuropeSub18478A=0.824T=0.175
The Genome Aggregation DatabaseGlobalStudy-wide29954A=0.832T=0.167
The Genome Aggregation DatabaseOtherSub302A=0.830T=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.841T=0.158
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.824T=0.176
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs128056481.35E-05alcohol and nictotine co-dependence20158304

eQTL of rs12805648 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 rs12805648 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 )
chr1174784327478772E067-30794
chr1175316437531693E06722077
chr1175317167531794E06722150
chr1175324587533180E06722892
chr1175420957542619E06732529
chr1175426207542790E06733054
chr1175428117542861E06733245
chr1175429047543018E06733338
chr1175435257543631E06733959
chr1175436647543900E06734098
chr1175441797544323E06734613
chr1175443557544474E06734789
chr1175445887544724E06735022
chr1175447797544905E06735213
chr1175449617545039E06735395
chr1175450717545391E06735505
chr1175562697556324E06746703
chr1175586107558758E06749044
chr1175590177559229E06749451
chr1174784327478772E068-30794
chr1175311437531496E06821577
chr1175316437531693E06822077
chr1175317167531794E06822150
chr1175362097536253E06826643
chr1175363337536400E06826767
chr1175366087536658E06827042
chr1175366657536803E06827099
chr1175368917537113E06827325
chr1175371187537228E06827552
chr1175372767537347E06827710
chr1175412397541375E06831673
chr1175414067542044E06831840
chr1175420957542619E06832529
chr1175426207542790E06833054
chr1175428117542861E06833245
chr1175429047543018E06833338
chr1175435257543631E06833959
chr1175436647543900E06834098
chr1175441797544323E06834613
chr1175443557544474E06834789
chr1175445887544724E06835022
chr1175447797544905E06835213
chr1175449617545039E06835395
chr1175450717545391E06835505
chr1175454017545635E06835835
chr1175456677545958E06836101
chr1175590177559229E06849451
chr1174714957471693E069-37873
chr1174716947471744E069-37822
chr1174718157471880E069-37686
chr1174719987472137E069-37429
chr1174721817473193E069-36373
chr1174784327478772E069-30794
chr1174922427492580E069-16986
chr1175311437531496E06921577
chr1175316437531693E06922077
chr1175317167531794E06922150
chr1175324587533180E06922892
chr1175362097536253E06926643
chr1175363337536400E06926767
chr1175366087536658E06927042
chr1175366657536803E06927099
chr1175368917537113E06927325
chr1175371187537228E06927552
chr1175372767537347E06927710
chr1175414067542044E06931840
chr1175420957542619E06932529
chr1175426207542790E06933054
chr1175428117542861E06933245
chr1175429047543018E06933338
chr1175435257543631E06933959
chr1175436647543900E06934098
chr1175441797544323E06934613
chr1175443557544474E06934789
chr1175445887544724E06935022
chr1175447797544905E06935213
chr1175449617545039E06935395
chr1175450717545391E06935505
chr1175454017545635E06935835
chr1175562697556324E06946703
chr1174646987464752E070-44814
chr1174647947464941E070-44625
chr1174650097465059E070-44507
chr1174651287465243E070-44323
chr1174652987465370E070-44196
chr1174653757466283E070-43283
chr1174664987466548E070-43018
chr1174666267466676E070-42890
chr1174668217467178E070-42388
chr1175094787509615E0700
chr1175171077517964E0707541
chr1175203947520631E07010828
chr1175207197520892E07011153
chr1175211197521261E07011553
chr1175214577521541E07011891
chr1175216537521724E07012087
chr1175324587533180E07022892
chr1174711357471307E071-38259
chr1174714957471693E071-37873
chr1174716947471744E071-37822
chr1174718157471880E071-37686
chr1174719987472137E071-37429
chr1174721817473193E071-36373
chr1174918087491890E071-17676
chr1174920507492126E071-17440
chr1174922427492580E071-16986
chr1175311437531496E07121577
chr1175316437531693E07122077
chr1175317167531794E07122150
chr1175324587533180E07122892
chr1175368917537113E07127325
chr1175371187537228E07127552
chr1175372767537347E07127710
chr1175377577538049E07128191
chr1175412397541375E07131673
chr1175414067542044E07131840
chr1175420957542619E07132529
chr1175426207542790E07133054
chr1175428117542861E07133245
chr1175429047543018E07133338
chr1175435257543631E07133959
chr1175436647543900E07134098
chr1175441797544323E07134613
chr1175443557544474E07134789
chr1175445887544724E07135022
chr1175447797544905E07135213
chr1175449617545039E07135395
chr1175450717545391E07135505
chr1175454017545635E07135835
chr1175456677545958E07136101
chr1175571147557164E07147548
chr1175571707557220E07147604
chr1175574047557621E07147838
chr1175576347557694E07148068
chr1175581427558213E07148576
chr1175582827558342E07148716
chr1175583667558435E07148800
chr1175586107558758E07149044
chr1175590177559229E07149451
chr1174705917471065E072-38501
chr1174711357471307E072-38259
chr1174714957471693E072-37873
chr1174716947471744E072-37822
chr1174718157471880E072-37686
chr1174719987472137E072-37429
chr1174784327478772E072-30794
chr1174912767491329E072-18237
chr1175311437531496E07221577
chr1175316437531693E07222077
chr1175317167531794E07222150
chr1175371187537228E07227552
chr1175372767537347E07227710
chr1175377577538049E07228191
chr1175409397541011E07231373
chr1175412397541375E07231673
chr1175414067542044E07231840
chr1175420957542619E07232529
chr1175426207542790E07233054
chr1175428117542861E07233245
chr1175429047543018E07233338
chr1175435257543631E07233959
chr1175436647543900E07234098
chr1175441797544323E07234613
chr1175443557544474E07234789
chr1175445887544724E07235022
chr1175447797544905E07235213
chr1175449617545039E07235395
chr1175450717545391E07235505
chr1175454017545635E07235835
chr1175456677545958E07236101
chr1175460717546534E07236505
chr1175536007553756E07244034
chr1175537647553872E07244198
chr1175539257554054E07244359
chr1175540927554240E07244526
chr1175544067554456E07244840
chr1175544767554526E07244910
chr1175545777554692E07245011
chr1175590177559229E07249451
chr1174784327478772E073-30794
chr1175324587533180E07322892
chr1175429047543018E07333338
chr1175435257543631E07333959
chr1175436647543900E07334098
chr1175441797544323E07334613
chr1175443557544474E07334789
chr1175445887544724E07335022
chr1175581427558213E07348576
chr1174711357471307E074-38259
chr1174714957471693E074-37873
chr1174716947471744E074-37822
chr1174718157471880E074-37686
chr1174719987472137E074-37429
chr1174784327478772E074-30794
chr1174922427492580E074-16986
chr1175311437531496E07421577
chr1175316437531693E07422077
chr1175317167531794E07422150
chr1175324587533180E07422892
chr1175366087536658E07427042
chr1175366657536803E07427099
chr1175368917537113E07427325
chr1175371187537228E07427552
chr1175372767537347E07427710
chr1175414067542044E07431840
chr1175420957542619E07432529
chr1175426207542790E07433054
chr1175428117542861E07433245
chr1175429047543018E07433338
chr1175435257543631E07433959
chr1175436647543900E07434098
chr1175441797544323E07434613
chr1175443557544474E07434789
chr1175445887544724E07435022
chr1175447797544905E07435213
chr1175449617545039E07435395
chr1175450717545391E07435505
chr1175454017545635E07435835
chr1175456677545958E07436101
chr1175460717546534E07436505
chr1175466887546965E07437122
chr1175563557556405E07446789
chr1175566057556838E07447039
chr1175569117556980E07447345
chr1175571147557164E07447548
chr1175571707557220E07447604
chr1175574047557621E07447838
chr1175576347557694E07448068
chr1175581427558213E07448576
chr1175582827558342E07448716
chr1175583667558435E07448800
chr1175586107558758E07449044
chr1175590177559229E07449451
chr1175193867519706E0819820
chr1175197887519866E08110222
chr1175198687519928E08110302
chr1175200237520150E08110457
chr1175201827520275E08110616
chr1175203947520631E08110828
chr1175207197520892E08111153
chr1175366657536803E08127099
chr1175368917537113E08127325
chr1175197887519866E08210222
chr1175198687519928E08210302
chr1175207197520892E08211153
chr1175211197521261E08211553
chr1175214577521541E08211891
chr1175366657536803E08227099










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1175332437535994E06723677
chr1175360207536198E06726454
chr1175332437535994E06823677
chr1175332437535994E06923677
chr1175332437535994E07123677
chr1175360207536198E07126454
chr1175332437535994E07223677
chr1175360207536198E07226454
chr1175063637507266E073-2300
chr1175073157507545E073-2021
chr1175332437535994E07323677
chr1175360207536198E07326454
chr1175332437535994E07423677
chr1175360207536198E07426454
chr1175332437535994E08223677
chr1175360207536198E08226454