dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
rs779160321
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr12:102917169 (GRCh38.p14) Help
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- Alleles
- C>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000004 (1/250352, GnomAD_exome)A=0.000008 (1/119888, ExAC)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- PAH : 5 Prime UTR Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
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DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
gnomAD - Exomes | Global | Study-wide | 250352 | C=0.999996 | A=0.000004 |
gnomAD - Exomes | European | Sub | 134634 | C=1.000000 | A=0.000000 |
gnomAD - Exomes | Asian | Sub | 48844 | C=1.00000 | A=0.00000 |
gnomAD - Exomes | American | Sub | 34524 | C=1.00000 | A=0.00000 |
gnomAD - Exomes | African | Sub | 16168 | C=1.00000 | A=0.00000 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 10062 | C=0.99990 | A=0.00010 |
gnomAD - Exomes | Other | Sub | 6120 | C=1.0000 | A=0.0000 |
ExAC | Global | Study-wide | 119888 | C=0.999992 | A=0.000008 |
ExAC | Europe | Sub | 72390 | C=0.99999 | A=0.00001 |
ExAC | Asian | Sub | 24870 | C=1.00000 | A=0.00000 |
ExAC | American | Sub | 11456 | C=1.00000 | A=0.00000 |
ExAC | African | Sub | 10280 | C=1.00000 | A=0.00000 |
ExAC | Other | Sub | 892 | C=1.000 | A=0.000 |
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Sequence name | Change |
---|---|
GRCh38.p14 chr 12 | NC_000012.12:g.102917169C>A |
GRCh37.p13 chr 12 | NC_000012.11:g.103310947C>A |
PAH RefSeqGene | NG_008690.2:g.46242G>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
PAH transcript variant 1 | NM_000277.3:c.-39= | N/A | 5 Prime UTR Variant |
PAH transcript variant 2 | NM_001354304.2:c.-39= | N/A | 5 Prime UTR Variant |
PAH transcript variant X1 | XM_017019370.2:c.-39= | N/A | 5 Prime UTR Variant |
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Placement | C= | A |
---|---|---|
GRCh38.p14 chr 12 | NC_000012.12:g.102917169= | NC_000012.12:g.102917169C>A |
GRCh37.p13 chr 12 | NC_000012.11:g.103310947= | NC_000012.11:g.103310947C>A |
PAH RefSeqGene | NG_008690.2:g.46242= | NG_008690.2:g.46242G>T |
PAH transcript variant 1 | NM_000277.3:c.-39= | NM_000277.3:c.-39G>T |
PAH transcript variant 1 | NM_000277.2:c.-39= | NM_000277.2:c.-39G>T |
PAH transcript | NM_000277.1:c.-39= | NM_000277.1:c.-39G>T |
PAH transcript variant 2 | NM_001354304.2:c.-39= | NM_001354304.2:c.-39G>T |
PAH transcript variant 2 | NM_001354304.1:c.-39= | NM_001354304.1:c.-39G>T |
PAH transcript variant X1 | XM_017019370.2:c.-39= | XM_017019370.2:c.-39G>T |
PAH transcript variant X1 | XM_017019370.1:c.-39= | XM_017019370.1:c.-39G>T |
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No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | EVA_EXAC | ss1691072861 | Apr 01, 2015 (144) |
2 | GNOMAD | ss2740077595 | Nov 08, 2017 (151) |
3 | ExAC | NC_000012.11 - 103310947 | Oct 12, 2018 (152) |
4 | gnomAD - Exomes | NC_000012.11 - 103310947 | Jul 13, 2019 (153) |
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