rs10505737

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

MFAP5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0057 (1715/29976,GnomAD)
A=0051 (1508/29118,TOPMED)
A=0047 (234/5008,1000G)
A=0056 (217/3854,ALSPAC)
A=0066 (246/3708,TWINSUK)

Position: chr12:8651976 (GRCh38.p7) (12p13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 67 Enhancers around

Promoter: 17 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.8651976C>A
GRCh37.p13 chr 12	NC_000012.11:g.8804572C>A
MFAP5 RefSeqGene	NG_041814.1:g.15913G>T

Gene: MFAP5, microfibrillar associated protein 5(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MFAP5 transcript variant 2	NM_001297709.1:c.	N/A	Intron Variant
MFAP5 transcript variant 3	NM_001297710.1:c.	N/A	Intron Variant
MFAP5 transcript variant 4	NM_001297711.1:c.	N/A	Intron Variant
MFAP5 transcript variant 5	NM_001297712.1:c.	N/A	Intron Variant
MFAP5 transcript variant 1	NM_003480.3:c.	N/A	Intron Variant
MFAP5 transcript variant 6	NR_123733.1:n.	N/A	Intron Variant
MFAP5 transcript variant 7	NR_123734.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.965	A=0.035
1000Genomes	American	Sub	694	C=0.960	A=0.040
1000Genomes	East Asian	Sub	1008	C=0.965	A=0.035
1000Genomes	Europe	Sub	1006	C=0.935	A=0.065
1000Genomes	Global	Study-wide	5008	C=0.953	A=0.047
1000Genomes	South Asian	Sub	978	C=0.940	A=0.060
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.944	A=0.056
The Genome Aggregation Database	African	Sub	8732	C=0.956	A=0.044
The Genome Aggregation Database	American	Sub	838	C=0.950	A=0.050
The Genome Aggregation Database	East Asian	Sub	1618	C=0.966	A=0.034
The Genome Aggregation Database	Europe	Sub	18486	C=0.934	A=0.065
The Genome Aggregation Database	Global	Study-wide	29976	C=0.942	A=0.057
The Genome Aggregation Database	Other	Sub	302	C=0.930	A=0.070
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.948	A=0.051
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.934	A=0.066

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs10505737	0.000459	alcohol dependence	21314694

eQTL of rs10505737 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 rs10505737 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 )
chr12	8761422	8762058	E067	-42514
chr12	8762115	8762186	E067	-42386
chr12	8839970	8840069	E067	35398
chr12	8840110	8841182	E067	35538
chr12	8844906	8845825	E067	40334
chr12	8827810	8827915	E068	23238
chr12	8827973	8828071	E068	23401
chr12	8828147	8828634	E068	23575
chr12	8841900	8842004	E068	37328
chr12	8842276	8842654	E068	37704
chr12	8844521	8844599	E068	39949
chr12	8844725	8844868	E068	40153
chr12	8844906	8845825	E068	40334
chr12	8852246	8852869	E068	47674
chr12	8852948	8853032	E068	48376
chr12	8853074	8853172	E068	48502
chr12	8853220	8853264	E068	48648
chr12	8840110	8841182	E069	35538
chr12	8842276	8842654	E069	37704
chr12	8844521	8844599	E069	39949
chr12	8844725	8844868	E069	40153
chr12	8844906	8845825	E069	40334
chr12	8845917	8845967	E069	41345
chr12	8761422	8762058	E070	-42514
chr12	8762115	8762186	E070	-42386
chr12	8840110	8841182	E070	35538
chr12	8841900	8842004	E070	37328
chr12	8842276	8842654	E070	37704
chr12	8844521	8844599	E070	39949
chr12	8844725	8844868	E070	40153
chr12	8844906	8845825	E070	40334
chr12	8845917	8845967	E070	41345
chr12	8761422	8762058	E071	-42514
chr12	8840110	8841182	E071	35538
chr12	8842276	8842654	E071	37704
chr12	8844725	8844868	E071	40153
chr12	8844906	8845825	E071	40334
chr12	8845917	8845967	E071	41345
chr12	8852246	8852869	E071	47674
chr12	8852948	8853032	E071	48376
chr12	8853074	8853172	E071	48502
chr12	8853220	8853264	E071	48648
chr12	8853499	8853549	E071	48927
chr12	8844906	8845825	E072	40334
chr12	8761422	8762058	E073	-42514
chr12	8840110	8841182	E073	35538
chr12	8844725	8844868	E073	40153
chr12	8844906	8845825	E073	40334
chr12	8852948	8853032	E073	48376
chr12	8853074	8853172	E073	48502
chr12	8842276	8842654	E074	37704
chr12	8842985	8843178	E074	38413
chr12	8845917	8845967	E074	41345
chr12	8839970	8840069	E081	35398
chr12	8840110	8841182	E081	35538
chr12	8844906	8845825	E081	40334
chr12	8852246	8852869	E081	47674
chr12	8852948	8853032	E081	48376
chr12	8853074	8853172	E081	48502
chr12	8853220	8853264	E081	48648
chr12	8853499	8853549	E081	48927
chr12	8840110	8841182	E082	35538
chr12	8842276	8842654	E082	37704
chr12	8844906	8845825	E082	40334
chr12	8845917	8845967	E082	41345
chr12	8853220	8853264	E082	48648
chr12	8853499	8853549	E082	48927

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	8848836	8851879	E067	44264
chr12	8848836	8851879	E068	44264
chr12	8851994	8852089	E068	47422
chr12	8848836	8851879	E069	44264
chr12	8851994	8852089	E069	47422
chr12	8848836	8851879	E070	44264
chr12	8851994	8852089	E070	47422
chr12	8848836	8851879	E071	44264
chr12	8851994	8852089	E071	47422
chr12	8848836	8851879	E072	44264
chr12	8851994	8852089	E072	47422
chr12	8848836	8851879	E073	44264
chr12	8851994	8852089	E073	47422
chr12	8848836	8851879	E074	44264
chr12	8848836	8851879	E081	44264
chr12	8848836	8851879	E082	44264
chr12	8851994	8852089	E082	47422