rs10500553

Homo sapiens
A>G
NFAT5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0018 (555/29988,GnomAD)
G=0031 (909/29118,TOPMED)
G=0018 (91/5008,1000G)
G=0000 (1/3854,ALSPAC)
G=0001 (4/3708,TWINSUK)
chr16:69651111 (GRCh38.p7) (16q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.69651111A>G
GRCh37.p13 chr 16NC_000016.9:g.69685014A>G
NFAT5 RefSeqGeneNG_029600.1:g.91018A>G

Gene: NFAT5, nuclear factor of activated T-cells 5, tonicity-responsive(plus strand)

Molecule type Change Amino acid[Codon] SO Term
NFAT5 transcript variant 6NM_001113178.2:c.N/AIntron Variant
NFAT5 transcript variant 3NM_006599.3:c.N/AIntron Variant
NFAT5 transcript variant 2NM_138713.3:c.N/AIntron Variant
NFAT5 transcript variant 1NM_138714.3:c.N/AIntron Variant
NFAT5 transcript variant 4NM_173214.2:c.N/AIntron Variant
NFAT5 transcript variant 5NM_173215.2:c.N/AIntron Variant
NFAT5 transcript variant X2XM_006721125.3:c.N/AIntron Variant
NFAT5 transcript variant X1XM_011522817.2:c.N/AIntron Variant
NFAT5 transcript variant X3XM_011522818.2:c.N/AIntron Variant
NFAT5 transcript variant X6XM_011522819.2:c.N/AIntron Variant
NFAT5 transcript variant X7XM_011522820.2:c.N/AIntron Variant
NFAT5 transcript variant X9XM_011522822.2:c.N/AIntron Variant
NFAT5 transcript variant X4XM_017022870.1:c.N/AIntron Variant
NFAT5 transcript variant X5XM_017022871.1:c.N/AIntron Variant
NFAT5 transcript variant X8XM_017022872.1:c.N/AIntron Variant
NFAT5 transcript variant X10XM_017022873.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.938G=0.062
1000GenomesAmericanSub694A=0.990G=0.010
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=0.999G=0.001
1000GenomesGlobalStudy-wide5008A=0.982G=0.018
1000GenomesSouth AsianSub978A=1.000G=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=1.000G=0.000
The Genome Aggregation DatabaseAfricanSub8730A=0.939G=0.061
The Genome Aggregation DatabaseAmericanSub838A=0.990G=0.010
The Genome Aggregation DatabaseEast AsianSub1618A=0.999G=0.001
The Genome Aggregation DatabaseEuropeSub18500A=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29988A=0.981G=0.018
The Genome Aggregation DatabaseOtherSub302A=0.980G=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.968G=0.031
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.999G=0.001
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs105005533.42E-10alcohol consumptionpha001398

eQTL of rs10500553 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 rs10500553 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 )
chr166964477469644824E067-40190
chr166964483869644905E067-40109
chr166964521269645300E067-39714
chr166964536169645595E067-39419
chr166964565369645733E067-39281
chr166964584069645884E067-39130
chr166964681169647947E067-37067
chr166965325769653341E067-31673
chr166965355169653708E067-31306
chr166965375669653953E067-31061
chr166965405569654151E067-30863
chr166973155569731763E06746541
chr166964521269645300E068-39714
chr166964536169645595E068-39419
chr166964565369645733E068-39281
chr166964681169647947E068-37067
chr166965212869652220E068-32794
chr166965228169652496E068-32518
chr166965250069652672E068-32342
chr166965279069652939E068-32075
chr166965304369653118E068-31896
chr166965325769653341E068-31673
chr166965355169653708E068-31306
chr166965375669653953E068-31061
chr166965405569654151E068-30863
chr166967403769674108E068-10906
chr166973155569731763E06846541
chr166964144069641518E069-43496
chr166964380969643925E069-41089
chr166964477469644824E069-40190
chr166964483869644905E069-40109
chr166964521269645300E069-39714
chr166964536169645595E069-39419
chr166964565369645733E069-39281
chr166964584069645884E069-39130
chr166964605569646105E069-38909
chr166964625269646302E069-38712
chr166964665269646800E069-38214
chr166964681169647947E069-37067
chr166965212869652220E069-32794
chr166965228169652496E069-32518
chr166965250069652672E069-32342
chr166965279069652939E069-32075
chr166965304369653118E069-31896
chr166965325769653341E069-31673
chr166965355169653708E069-31306
chr166965375669653953E069-31061
chr166965405569654151E069-30863
chr166972578069726325E06940766
chr166964521269645300E070-39714
chr166964536169645595E070-39419
chr166964565369645733E070-39281
chr166964584069645884E070-39130
chr166965212869652220E070-32794
chr166965228169652496E070-32518
chr166965250069652672E070-32342
chr166965279069652939E070-32075
chr166965304369653118E070-31896
chr166965325769653341E070-31673
chr166965355169653708E070-31306
chr166965375669653953E070-31061
chr166964681169647947E071-37067
chr166965212869652220E071-32794
chr166965228169652496E071-32518
chr166965250069652672E071-32342
chr166965279069652939E071-32075
chr166965304369653118E071-31896
chr166965325769653341E071-31673
chr166965355169653708E071-31306
chr166965375669653953E071-31061
chr166965405569654151E071-30863
chr166972578069726325E07140766
chr166972657169726660E07141557
chr166972670069726746E07141686
chr166964665269646800E072-38214
chr166964681169647947E072-37067
chr166965250069652672E072-32342
chr166965279069652939E072-32075
chr166965304369653118E072-31896
chr166965325769653341E072-31673
chr166965355169653708E072-31306
chr166965375669653953E072-31061
chr166965405569654151E072-30863
chr166972578069726325E07240766
chr166972657169726660E07241557
chr166964536169645595E073-39419
chr166964565369645733E073-39281
chr166964681169647947E073-37067
chr166964795569648030E073-36984
chr166964809169648259E073-36755
chr166964828069648358E073-36656
chr166964843469648484E073-36530
chr166964855969648642E073-36372
chr166964997669650275E073-34739
chr166965050569650561E073-34453
chr166965279069652939E073-32075
chr166965304369653118E073-31896
chr166965325769653341E073-31673
chr166965355169653708E073-31306
chr166965375669653953E073-31061
chr166965405569654151E073-30863
chr166964380969643925E074-41089
chr166964681169647947E074-37067
chr166964795569648030E074-36984
chr166965212869652220E074-32794
chr166965228169652496E074-32518
chr166965250069652672E074-32342
chr166965279069652939E074-32075
chr166965304369653118E074-31896
chr166965325769653341E074-31673
chr166965355169653708E074-31306
chr166965375669653953E074-31061
chr166965405569654151E074-30863
chr166972578069726325E07440766
chr166964437069644619E082-40395
chr166964521269645300E082-39714
chr166964536169645595E082-39419
chr166964565369645733E082-39281