rs5996775

Homo sapiens
C>T
SGSM1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0122 (3662/29960,GnomAD)
T=0133 (3891/29116,TOPMED)
T=0155 (775/5008,1000G)
T=0150 (579/3854,ALSPAC)
T=0155 (573/3708,TWINSUK)
chr22:24842325 (GRCh38.p7) (22q11.23)
ND
GWASdb2
1   publication(s)
See rs on genome
155 Enhancers around
31 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.24842325C>T
GRCh37.p13 chr 22NC_000022.10:g.25238292C>T

Gene: SGSM1, small G protein signaling modulator 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SGSM1 transcript variant 1NM_001039948.3:c.N/AIntron Variant
SGSM1 transcript variant 3NM_001098497.2:c.N/AIntron Variant
SGSM1 transcript variant 4NM_001098498.2:c.N/AIntron Variant
SGSM1 transcript variant 2NM_133454.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.930T=0.070
1000GenomesAmericanSub694C=0.810T=0.190
1000GenomesEast AsianSub1008C=0.850T=0.150
1000GenomesEuropeSub1006C=0.852T=0.148
1000GenomesGlobalStudy-wide5008C=0.845T=0.155
1000GenomesSouth AsianSub978C=0.740T=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.850T=0.150
The Genome Aggregation DatabaseAfricanSub8734C=0.933T=0.067
The Genome Aggregation DatabaseAmericanSub834C=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1620C=0.866T=0.134
The Genome Aggregation DatabaseEuropeSub18470C=0.855T=0.144
The Genome Aggregation DatabaseGlobalStudy-wide29960C=0.877T=0.122
The Genome Aggregation DatabaseOtherSub302C=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.866T=0.133
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.845T=0.155
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs59967750.000321nicotine smoking19268276

eQTL of rs5996775 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 rs5996775 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 )
chr222520459625204650E067-33642
chr222520473125204792E067-33500
chr222520485325204946E067-33346
chr222520502925205081E067-33211
chr222520515025205555E067-32737
chr222520561225205737E067-32555
chr222520579925205845E067-32447
chr222520699625207185E067-31107
chr222521007725210158E067-28134
chr222521035825210491E067-27801
chr222521585425216476E067-21816
chr222520473125204792E068-33500
chr222520485325204946E068-33346
chr222520502925205081E068-33211
chr222520515025205555E068-32737
chr222520561225205737E068-32555
chr222520579925205845E068-32447
chr222521035825210491E068-27801
chr222521067325210836E068-27456
chr222521585425216476E068-21816
chr222520459625204650E069-33642
chr222520473125204792E069-33500
chr222520485325204946E069-33346
chr222520502925205081E069-33211
chr222520515025205555E069-32737
chr222520561225205737E069-32555
chr222520699625207185E069-31107
chr222520819025208331E069-29961
chr222520838025208483E069-29809
chr222520851025208598E069-29694
chr222521565725215785E069-22507
chr222521585425216476E069-21816
chr222521654125216650E069-21642
chr222523239525232511E069-5781
chr222523265925232709E069-5583
chr222520336425204017E070-34275
chr222520459625204650E070-33642
chr222520473125204792E070-33500
chr222520485325204946E070-33346
chr222520502925205081E070-33211
chr222520515025205555E070-32737
chr222520561225205737E070-32555
chr222520579925205845E070-32447
chr222520699625207185E070-31107
chr222520724925207304E070-30988
chr222520759025207640E070-30652
chr222521585425216476E070-21816
chr222521654125216650E070-21642
chr222521669225216764E070-21528
chr222521681425216876E070-21416
chr222520459625204650E071-33642
chr222520473125204792E071-33500
chr222520485325204946E071-33346
chr222520502925205081E071-33211
chr222520515025205555E071-32737
chr222520561225205737E071-32555
chr222520579925205845E071-32447
chr222520603125206114E071-32178
chr222520622425206810E071-31482
chr222520699625207185E071-31107
chr222520724925207304E071-30988
chr222520759025207640E071-30652
chr222521007725210158E071-28134
chr222521035825210491E071-27801
chr222521067325210836E071-27456
chr222521585425216476E071-21816
chr222520459625204650E072-33642
chr222520473125204792E072-33500
chr222520485325204946E072-33346
chr222520502925205081E072-33211
chr222520515025205555E072-32737
chr222520561225205737E072-32555
chr222520579925205845E072-32447
chr222520603125206114E072-32178
chr222520622425206810E072-31482
chr222520699625207185E072-31107
chr222520724925207304E072-30988
chr222520759025207640E072-30652
chr222520851025208598E072-29694
chr222521007725210158E072-28134
chr222521035825210491E072-27801
chr222521067325210836E072-27456
chr222521585425216476E072-21816
chr222521654125216650E072-21642
chr222521669225216764E072-21528
chr222520459625204650E073-33642
chr222520473125204792E073-33500
chr222520515025205555E073-32737
chr222520561225205737E073-32555
chr222520579925205845E073-32447
chr222520603125206114E073-32178
chr222520699625207185E073-31107
chr222520724925207304E073-30988
chr222520838025208483E073-29809
chr222520851025208598E073-29694
chr222521007725210158E073-28134
chr222521035825210491E073-27801
chr222521565725215785E073-22507
chr222521585425216476E073-21816
chr222521654125216650E073-21642
chr222520336425204017E074-34275
chr222520459625204650E074-33642
chr222520473125204792E074-33500
chr222520485325204946E074-33346
chr222520502925205081E074-33211
chr222520515025205555E074-32737
chr222520561225205737E074-32555
chr222520579925205845E074-32447
chr222520603125206114E074-32178
chr222520622425206810E074-31482
chr222520699625207185E074-31107
chr222520724925207304E074-30988
chr222521035825210491E074-27801
chr222521585425216476E074-21816
chr222520459625204650E081-33642
chr222520473125204792E081-33500
chr222520485325204946E081-33346
chr222520502925205081E081-33211
chr222520515025205555E081-32737
chr222520561225205737E081-32555
chr222520579925205845E081-32447
chr222520622425206810E081-31482
chr222520699625207185E081-31107
chr222520724925207304E081-30988
chr222520759025207640E081-30652
chr222520819025208331E081-29961
chr222520838025208483E081-29809
chr222520851025208598E081-29694
chr222521565725215785E081-22507
chr222521585425216476E081-21816
chr222521654125216650E081-21642
chr222521669225216764E081-21528
chr222521681425216876E081-21416
chr222521741925217473E081-20819
chr222521756225217654E081-20638
chr222521997525220032E081-18260
chr222522019325220517E081-17775
chr222520473125204792E082-33500
chr222520485325204946E082-33346
chr222520502925205081E082-33211
chr222520515025205555E082-32737
chr222520561225205737E082-32555
chr222520724925207304E082-30988
chr222520759025207640E082-30652
chr222520819025208331E082-29961
chr222520838025208483E082-29809
chr222520851025208598E082-29694
chr222521035825210491E082-27801
chr222521067325210836E082-27456
chr222521565725215785E082-22507
chr222521669225216764E082-21528
chr222521681425216876E082-21416
chr222521861225218680E082-19612
chr222521881625218897E082-19395
chr222521911425219250E082-19042










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr222520172925202570E067-35722
chr222520258025202601E067-35691
chr222520261025202875E067-35417
chr222520288825203363E067-34929
chr222520172925202570E068-35722
chr222520258025202601E068-35691
chr222520261025202875E068-35417
chr222520288825203363E068-34929
chr222520172925202570E069-35722
chr222520258025202601E069-35691
chr222520261025202875E069-35417
chr222520288825203363E069-34929
chr222520172925202570E070-35722
chr222520172925202570E071-35722
chr222520258025202601E071-35691
chr222520261025202875E071-35417
chr222520288825203363E071-34929
chr222520172925202570E072-35722
chr222520258025202601E072-35691
chr222520261025202875E072-35417
chr222520288825203363E072-34929
chr222520172925202570E073-35722
chr222520258025202601E073-35691
chr222520261025202875E073-35417
chr222520288825203363E073-34929
chr222520172925202570E074-35722
chr222520258025202601E074-35691
chr222520261025202875E074-35417
chr222520172925202570E082-35722
chr222520258025202601E082-35691
chr222520261025202875E082-35417