Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 16 | NC_000016.10:g.69651111A>G |
GRCh37.p13 chr 16 | NC_000016.9:g.69685014A>G |
NFAT5 RefSeqGene | NG_029600.1:g.91018A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
NFAT5 transcript variant 6 | NM_001113178.2:c. | N/A | Intron Variant |
NFAT5 transcript variant 3 | NM_006599.3:c. | N/A | Intron Variant |
NFAT5 transcript variant 2 | NM_138713.3:c. | N/A | Intron Variant |
NFAT5 transcript variant 1 | NM_138714.3:c. | N/A | Intron Variant |
NFAT5 transcript variant 4 | NM_173214.2:c. | N/A | Intron Variant |
NFAT5 transcript variant 5 | NM_173215.2:c. | N/A | Intron Variant |
NFAT5 transcript variant X2 | XM_006721125.3:c. | N/A | Intron Variant |
NFAT5 transcript variant X1 | XM_011522817.2:c. | N/A | Intron Variant |
NFAT5 transcript variant X3 | XM_011522818.2:c. | N/A | Intron Variant |
NFAT5 transcript variant X6 | XM_011522819.2:c. | N/A | Intron Variant |
NFAT5 transcript variant X7 | XM_011522820.2:c. | N/A | Intron Variant |
NFAT5 transcript variant X9 | XM_011522822.2:c. | N/A | Intron Variant |
NFAT5 transcript variant X4 | XM_017022870.1:c. | N/A | Intron Variant |
NFAT5 transcript variant X5 | XM_017022871.1:c. | N/A | Intron Variant |
NFAT5 transcript variant X8 | XM_017022872.1:c. | N/A | Intron Variant |
NFAT5 transcript variant X10 | XM_017022873.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.938 | G=0.062 |
1000Genomes | American | Sub | 694 | A=0.990 | G=0.010 |
1000Genomes | East Asian | Sub | 1008 | A=1.000 | G=0.000 |
1000Genomes | Europe | Sub | 1006 | A=0.999 | G=0.001 |
1000Genomes | Global | Study-wide | 5008 | A=0.982 | G=0.018 |
1000Genomes | South Asian | Sub | 978 | A=1.000 | G=0.000 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=1.000 | G=0.000 |
The Genome Aggregation Database | African | Sub | 8730 | A=0.939 | G=0.061 |
The Genome Aggregation Database | American | Sub | 838 | A=0.990 | G=0.010 |
The Genome Aggregation Database | East Asian | Sub | 1618 | A=0.999 | G=0.001 |
The Genome Aggregation Database | Europe | Sub | 18500 | A=0.999 | G=0.000 |
The Genome Aggregation Database | Global | Study-wide | 29988 | A=0.981 | G=0.018 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.980 | G=0.020 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.968 | G=0.031 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.999 | G=0.001 |
PMID | Title | Author | Journal |
---|
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs10500553 | 3.42E-10 | alcohol consumption | pha001398 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
---|---|---|---|---|---|---|---|
There is no eQTL annotation for this SNP |
Probe ID | Position | Gene | beta | p-value | |||
---|---|---|---|---|---|---|---|
There is no meQTL annotation for this SNP |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr16 | 69644774 | 69644824 | E067 | -40190 |
chr16 | 69644838 | 69644905 | E067 | -40109 |
chr16 | 69645212 | 69645300 | E067 | -39714 |
chr16 | 69645361 | 69645595 | E067 | -39419 |
chr16 | 69645653 | 69645733 | E067 | -39281 |
chr16 | 69645840 | 69645884 | E067 | -39130 |
chr16 | 69646811 | 69647947 | E067 | -37067 |
chr16 | 69653257 | 69653341 | E067 | -31673 |
chr16 | 69653551 | 69653708 | E067 | -31306 |
chr16 | 69653756 | 69653953 | E067 | -31061 |
chr16 | 69654055 | 69654151 | E067 | -30863 |
chr16 | 69731555 | 69731763 | E067 | 46541 |
chr16 | 69645212 | 69645300 | E068 | -39714 |
chr16 | 69645361 | 69645595 | E068 | -39419 |
chr16 | 69645653 | 69645733 | E068 | -39281 |
chr16 | 69646811 | 69647947 | E068 | -37067 |
chr16 | 69652128 | 69652220 | E068 | -32794 |
chr16 | 69652281 | 69652496 | E068 | -32518 |
chr16 | 69652500 | 69652672 | E068 | -32342 |
chr16 | 69652790 | 69652939 | E068 | -32075 |
chr16 | 69653043 | 69653118 | E068 | -31896 |
chr16 | 69653257 | 69653341 | E068 | -31673 |
chr16 | 69653551 | 69653708 | E068 | -31306 |
chr16 | 69653756 | 69653953 | E068 | -31061 |
chr16 | 69654055 | 69654151 | E068 | -30863 |
chr16 | 69674037 | 69674108 | E068 | -10906 |
chr16 | 69731555 | 69731763 | E068 | 46541 |
chr16 | 69641440 | 69641518 | E069 | -43496 |
chr16 | 69643809 | 69643925 | E069 | -41089 |
chr16 | 69644774 | 69644824 | E069 | -40190 |
chr16 | 69644838 | 69644905 | E069 | -40109 |
chr16 | 69645212 | 69645300 | E069 | -39714 |
chr16 | 69645361 | 69645595 | E069 | -39419 |
chr16 | 69645653 | 69645733 | E069 | -39281 |
chr16 | 69645840 | 69645884 | E069 | -39130 |
chr16 | 69646055 | 69646105 | E069 | -38909 |
chr16 | 69646252 | 69646302 | E069 | -38712 |
chr16 | 69646652 | 69646800 | E069 | -38214 |
chr16 | 69646811 | 69647947 | E069 | -37067 |
chr16 | 69652128 | 69652220 | E069 | -32794 |
chr16 | 69652281 | 69652496 | E069 | -32518 |
chr16 | 69652500 | 69652672 | E069 | -32342 |
chr16 | 69652790 | 69652939 | E069 | -32075 |
chr16 | 69653043 | 69653118 | E069 | -31896 |
chr16 | 69653257 | 69653341 | E069 | -31673 |
chr16 | 69653551 | 69653708 | E069 | -31306 |
chr16 | 69653756 | 69653953 | E069 | -31061 |
chr16 | 69654055 | 69654151 | E069 | -30863 |
chr16 | 69725780 | 69726325 | E069 | 40766 |
chr16 | 69645212 | 69645300 | E070 | -39714 |
chr16 | 69645361 | 69645595 | E070 | -39419 |
chr16 | 69645653 | 69645733 | E070 | -39281 |
chr16 | 69645840 | 69645884 | E070 | -39130 |
chr16 | 69652128 | 69652220 | E070 | -32794 |
chr16 | 69652281 | 69652496 | E070 | -32518 |
chr16 | 69652500 | 69652672 | E070 | -32342 |
chr16 | 69652790 | 69652939 | E070 | -32075 |
chr16 | 69653043 | 69653118 | E070 | -31896 |
chr16 | 69653257 | 69653341 | E070 | -31673 |
chr16 | 69653551 | 69653708 | E070 | -31306 |
chr16 | 69653756 | 69653953 | E070 | -31061 |
chr16 | 69646811 | 69647947 | E071 | -37067 |
chr16 | 69652128 | 69652220 | E071 | -32794 |
chr16 | 69652281 | 69652496 | E071 | -32518 |
chr16 | 69652500 | 69652672 | E071 | -32342 |
chr16 | 69652790 | 69652939 | E071 | -32075 |
chr16 | 69653043 | 69653118 | E071 | -31896 |
chr16 | 69653257 | 69653341 | E071 | -31673 |
chr16 | 69653551 | 69653708 | E071 | -31306 |
chr16 | 69653756 | 69653953 | E071 | -31061 |
chr16 | 69654055 | 69654151 | E071 | -30863 |
chr16 | 69725780 | 69726325 | E071 | 40766 |
chr16 | 69726571 | 69726660 | E071 | 41557 |
chr16 | 69726700 | 69726746 | E071 | 41686 |
chr16 | 69646652 | 69646800 | E072 | -38214 |
chr16 | 69646811 | 69647947 | E072 | -37067 |
chr16 | 69652500 | 69652672 | E072 | -32342 |
chr16 | 69652790 | 69652939 | E072 | -32075 |
chr16 | 69653043 | 69653118 | E072 | -31896 |
chr16 | 69653257 | 69653341 | E072 | -31673 |
chr16 | 69653551 | 69653708 | E072 | -31306 |
chr16 | 69653756 | 69653953 | E072 | -31061 |
chr16 | 69654055 | 69654151 | E072 | -30863 |
chr16 | 69725780 | 69726325 | E072 | 40766 |
chr16 | 69726571 | 69726660 | E072 | 41557 |
chr16 | 69645361 | 69645595 | E073 | -39419 |
chr16 | 69645653 | 69645733 | E073 | -39281 |
chr16 | 69646811 | 69647947 | E073 | -37067 |
chr16 | 69647955 | 69648030 | E073 | -36984 |
chr16 | 69648091 | 69648259 | E073 | -36755 |
chr16 | 69648280 | 69648358 | E073 | -36656 |
chr16 | 69648434 | 69648484 | E073 | -36530 |
chr16 | 69648559 | 69648642 | E073 | -36372 |
chr16 | 69649976 | 69650275 | E073 | -34739 |
chr16 | 69650505 | 69650561 | E073 | -34453 |
chr16 | 69652790 | 69652939 | E073 | -32075 |
chr16 | 69653043 | 69653118 | E073 | -31896 |
chr16 | 69653257 | 69653341 | E073 | -31673 |
chr16 | 69653551 | 69653708 | E073 | -31306 |
chr16 | 69653756 | 69653953 | E073 | -31061 |
chr16 | 69654055 | 69654151 | E073 | -30863 |
chr16 | 69643809 | 69643925 | E074 | -41089 |
chr16 | 69646811 | 69647947 | E074 | -37067 |
chr16 | 69647955 | 69648030 | E074 | -36984 |
chr16 | 69652128 | 69652220 | E074 | -32794 |
chr16 | 69652281 | 69652496 | E074 | -32518 |
chr16 | 69652500 | 69652672 | E074 | -32342 |
chr16 | 69652790 | 69652939 | E074 | -32075 |
chr16 | 69653043 | 69653118 | E074 | -31896 |
chr16 | 69653257 | 69653341 | E074 | -31673 |
chr16 | 69653551 | 69653708 | E074 | -31306 |
chr16 | 69653756 | 69653953 | E074 | -31061 |
chr16 | 69654055 | 69654151 | E074 | -30863 |
chr16 | 69725780 | 69726325 | E074 | 40766 |
chr16 | 69644370 | 69644619 | E082 | -40395 |
chr16 | 69645212 | 69645300 | E082 | -39714 |
chr16 | 69645361 | 69645595 | E082 | -39419 |
chr16 | 69645653 | 69645733 | E082 | -39281 |