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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1489398293

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:15329408 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000007 (1/140192, GnomAD)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FHAD1 : Synonymous Variant
FHAD1-AS1 : Non Coding Transcript Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999996 T=0.000004
gnomAD - Genomes Global Study-wide 140192 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75926 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 42010 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13654 C=0.99993 T=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3128 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.15329408C>T
GRCh37.p13 chr 1 NC_000001.10:g.15655904C>T
Gene: FHAD1, forkhead associated phosphopeptide binding domain 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FHAD1 transcript variant 1 NM_052929.2:c.1773C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform 1 NP_443161.1:p.His591= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant 4 NM_001391957.1:c.1773C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform 4 NP_001378886.1:p.His591= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X28 XM_011540592.2:c.1485C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X23 XP_011538894.1:p.His495= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X32 XM_011540595.2:c.1191C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X27 XP_011538897.1:p.His397= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X1 XM_017000198.3:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X1 XP_016855687.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X2 XM_017000199.3:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X1 XP_016855688.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X3 XM_011540576.3:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X2 XP_011538878.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X4 XM_011540577.3:c.1773C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X3 XP_011538879.1:p.His591= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X5 XM_017000200.2:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X4 XP_016855689.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X6 XM_017000201.2:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X5 XP_016855690.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X7 XM_011540581.4:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X6 XP_011538883.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X8 XM_011540582.4:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X6 XP_011538884.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X9 XM_047443734.1:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X6 XP_047299690.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X10 XM_017000202.2:c.1716C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X7 XP_016855691.1:p.His572= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X11 XM_011540584.4:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X8 XP_011538886.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X12 XM_047443737.1:c.1665C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X9 XP_047299693.1:p.His555= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X13 XM_017000203.3:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X10 XP_016855692.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X14 XM_024452887.2:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X11 XP_024308655.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X15 XM_047443743.1:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X12 XP_047299699.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X16 XM_017000205.2:c.1629C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X13 XP_016855694.1:p.His543= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X17 XM_017000206.3:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X14 XP_016855695.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X18 XM_017000207.3:c.1587C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X15 XP_016855696.1:p.His529= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X19 XM_011540588.4:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X16 XP_011538890.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X20 XM_047443774.1:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X17 XP_047299730.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X21 XM_047443776.1:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X18 XP_047299732.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X22 XM_024452898.2:c.1566C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X19 XP_024308666.1:p.His522= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X23 XM_047443790.1:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X20 XP_047299746.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X24 XM_047443798.1:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X21 XP_047299754.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X25 XM_024452903.2:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X21 XP_024308671.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X26 XM_024452912.2:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X21 XP_024308680.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X27 XM_017000210.3:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X22 XP_016855699.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X29 XM_047443801.1:c.1716C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X24 XP_047299757.1:p.His572= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X30 XM_017000211.3:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X25 XP_016855700.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X31 XM_017000212.3:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X26 XP_016855701.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X33 XM_047443835.1:c.891C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X28 XP_047299791.1:p.His297= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X34 XM_011540597.4:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X29 XP_011538899.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X35 XM_017000213.2:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X30 XP_016855702.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X36 XM_017000214.3:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X31 XP_016855703.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X37 XM_011540596.3:c.501C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X32 XP_011538898.2:p.His167= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X38 XM_011540598.4:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X33 XP_011538900.1:p.His608= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X39 XM_047443846.1:c.1566C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X34 XP_047299802.1:p.His522= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X40 XM_047443847.1:c.1773C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X35 XP_047299803.1:p.His591= H (His) > H (His) Synonymous Variant
FHAD1 transcript variant X41 XM_024452918.2:c.1824C>T H [CAC] > H [CAT] Coding Sequence Variant
forkhead-associated domain-containing protein 1 isoform X36 XP_024308686.1:p.His608= H (His) > H (His) Synonymous Variant
Gene: FHAD1-AS1, FHAD1 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FHAD1-AS1 transcript variant 1 NR_148918.1:n.384G>A N/A Non Coding Transcript Variant
FHAD1-AS1 transcript variant 2 NR_148919.1:n.381G>A N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= T
GRCh38.p14 chr 1 NC_000001.11:g.15329408= NC_000001.11:g.15329408C>T
GRCh37.p13 chr 1 NC_000001.10:g.15655904= NC_000001.10:g.15655904C>T
FHAD1 transcript variant X11 XM_011540584.4:c.1824= XM_011540584.4:c.1824C>T
FHAD1 transcript variant X12 XM_011540584.3:c.1824= XM_011540584.3:c.1824C>T
FHAD1 transcript variant X12 XM_011540584.2:c.1824= XM_011540584.2:c.1824C>T
FHAD1 transcript variant X12 XM_011540584.1:c.1824= XM_011540584.1:c.1824C>T
FHAD1 transcript variant X19 XM_011540588.4:c.1824= XM_011540588.4:c.1824C>T
FHAD1 transcript variant X20 XM_011540588.3:c.1824= XM_011540588.3:c.1824C>T
FHAD1 transcript variant X19 XM_011540588.2:c.1824= XM_011540588.2:c.1824C>T
FHAD1 transcript variant X16 XM_011540588.1:c.1824= XM_011540588.1:c.1824C>T
FHAD1 transcript variant X7 XM_011540581.4:c.1824= XM_011540581.4:c.1824C>T
FHAD1 transcript variant X8 XM_011540581.3:c.1824= XM_011540581.3:c.1824C>T
FHAD1 transcript variant X8 XM_011540581.2:c.1824= XM_011540581.2:c.1824C>T
FHAD1 transcript variant X9 XM_011540581.1:c.1824= XM_011540581.1:c.1824C>T
FHAD1 transcript variant X8 XM_011540582.4:c.1824= XM_011540582.4:c.1824C>T
FHAD1 transcript variant X10 XM_011540582.3:c.1824= XM_011540582.3:c.1824C>T
FHAD1 transcript variant X10 XM_011540582.2:c.1824= XM_011540582.2:c.1824C>T
FHAD1 transcript variant X10 XM_011540582.1:c.1824= XM_011540582.1:c.1824C>T
FHAD1 transcript variant X34 XM_011540597.4:c.1824= XM_011540597.4:c.1824C>T
FHAD1 transcript variant X35 XM_011540597.3:c.1824= XM_011540597.3:c.1824C>T
FHAD1 transcript variant X30 XM_011540597.2:c.1824= XM_011540597.2:c.1824C>T
FHAD1 transcript variant X28 XM_011540597.1:c.1824= XM_011540597.1:c.1824C>T
FHAD1 transcript variant X38 XM_011540598.4:c.1824= XM_011540598.4:c.1824C>T
FHAD1 transcript variant X38 XM_011540598.3:c.1824= XM_011540598.3:c.1824C>T
FHAD1 transcript variant X33 XM_011540598.2:c.1824= XM_011540598.2:c.1824C>T
FHAD1 transcript variant X30 XM_011540598.1:c.1824= XM_011540598.1:c.1824C>T
FHAD1 transcript variant X30 XM_017000211.3:c.1824= XM_017000211.3:c.1824C>T
FHAD1 transcript variant X31 XM_017000211.2:c.1824= XM_017000211.2:c.1824C>T
FHAD1 transcript variant X26 XM_017000211.1:c.1824= XM_017000211.1:c.1824C>T
FHAD1 transcript variant X1 XM_017000198.3:c.1824= XM_017000198.3:c.1824C>T
FHAD1 transcript variant X1 XM_017000198.2:c.1824= XM_017000198.2:c.1824C>T
FHAD1 transcript variant X1 XM_017000198.1:c.1824= XM_017000198.1:c.1824C>T
FHAD1 transcript variant X3 XM_011540576.3:c.1824= XM_011540576.3:c.1824C>T
FHAD1 transcript variant X4 XM_011540576.2:c.1824= XM_011540576.2:c.1824C>T
FHAD1 transcript variant X4 XM_011540576.1:c.1824= XM_011540576.1:c.1824C>T
FHAD1 transcript variant X4 XM_011540577.3:c.1773= XM_011540577.3:c.1773C>T
FHAD1 transcript variant X5 XM_011540577.2:c.1773= XM_011540577.2:c.1773C>T
FHAD1 transcript variant X5 XM_011540577.1:c.1773= XM_011540577.1:c.1773C>T
FHAD1 transcript variant X2 XM_017000199.3:c.1824= XM_017000199.3:c.1824C>T
FHAD1 transcript variant X2 XM_017000199.2:c.1824= XM_017000199.2:c.1824C>T
FHAD1 transcript variant X2 XM_017000199.1:c.1824= XM_017000199.1:c.1824C>T
FHAD1 transcript variant X13 XM_017000203.3:c.1824= XM_017000203.3:c.1824C>T
FHAD1 transcript variant X13 XM_017000203.2:c.1824= XM_017000203.2:c.1824C>T
FHAD1 transcript variant X13 XM_017000203.1:c.1824= XM_017000203.1:c.1824C>T
FHAD1 transcript variant X17 XM_017000206.3:c.1824= XM_017000206.3:c.1824C>T
FHAD1 transcript variant X17 XM_017000206.2:c.1824= XM_017000206.2:c.1824C>T
FHAD1 transcript variant X16 XM_017000206.1:c.1824= XM_017000206.1:c.1824C>T
FHAD1 transcript variant X18 XM_017000207.3:c.1587= XM_017000207.3:c.1587C>T
FHAD1 transcript variant X18 XM_017000207.2:c.1587= XM_017000207.2:c.1587C>T
FHAD1 transcript variant X17 XM_017000207.1:c.1587= XM_017000207.1:c.1587C>T
FHAD1 transcript variant X27 XM_017000210.3:c.1824= XM_017000210.3:c.1824C>T
FHAD1 transcript variant X28 XM_017000210.2:c.1824= XM_017000210.2:c.1824C>T
FHAD1 transcript variant X23 XM_017000210.1:c.1824= XM_017000210.1:c.1824C>T
FHAD1 transcript variant X31 XM_017000212.3:c.1824= XM_017000212.3:c.1824C>T
FHAD1 transcript variant X32 XM_017000212.2:c.1824= XM_017000212.2:c.1824C>T
FHAD1 transcript variant X27 XM_017000212.1:c.1824= XM_017000212.1:c.1824C>T
FHAD1 transcript variant X37 XM_011540596.3:c.501= XM_011540596.3:c.501C>T
FHAD1 transcript variant X34 XM_011540596.2:c.756= XM_011540596.2:c.756C>T
FHAD1 transcript variant X27 XM_011540596.1:c.756= XM_011540596.1:c.756C>T
FHAD1 transcript variant X36 XM_017000214.3:c.1824= XM_017000214.3:c.1824C>T
FHAD1 transcript variant X37 XM_017000214.2:c.1824= XM_017000214.2:c.1824C>T
FHAD1 transcript variant X32 XM_017000214.1:c.1824= XM_017000214.1:c.1824C>T
FHAD1 transcript variant X25 XM_024452903.2:c.1824= XM_024452903.2:c.1824C>T
FHAD1 transcript variant X23 XM_024452903.1:c.1824= XM_024452903.1:c.1824C>T
FHAD1 transcript variant X26 XM_024452912.2:c.1824= XM_024452912.2:c.1824C>T
FHAD1 transcript variant X26 XM_024452912.1:c.1824= XM_024452912.1:c.1824C>T
FHAD1 transcript variant X14 XM_024452887.2:c.1824= XM_024452887.2:c.1824C>T
FHAD1 transcript variant X15 XM_024452887.1:c.1824= XM_024452887.1:c.1824C>T
FHAD1 transcript variant 1 NM_052929.2:c.1773= NM_052929.2:c.1773C>T
FHAD1 transcript NM_052929.1:c.1773= NM_052929.1:c.1773C>T
FHAD1 transcript variant X5 XM_017000200.2:c.1824= XM_017000200.2:c.1824C>T
FHAD1 transcript variant X6 XM_017000200.1:c.1824= XM_017000200.1:c.1824C>T
FHAD1 transcript variant X6 XM_017000201.2:c.1824= XM_017000201.2:c.1824C>T
FHAD1 transcript variant X7 XM_017000201.1:c.1824= XM_017000201.1:c.1824C>T
FHAD1 transcript variant X10 XM_017000202.2:c.1716= XM_017000202.2:c.1716C>T
FHAD1 transcript variant X11 XM_017000202.1:c.1716= XM_017000202.1:c.1716C>T
FHAD1 transcript variant X16 XM_017000205.2:c.1629= XM_017000205.2:c.1629C>T
FHAD1 transcript variant X16 XM_017000205.1:c.1629= XM_017000205.1:c.1629C>T
FHAD1 transcript variant X22 XM_024452898.2:c.1566= XM_024452898.2:c.1566C>T
FHAD1 transcript variant X22 XM_024452898.1:c.1566= XM_024452898.1:c.1566C>T
FHAD1 transcript variant X41 XM_024452918.2:c.1824= XM_024452918.2:c.1824C>T
FHAD1 transcript variant X40 XM_024452918.1:c.1824= XM_024452918.1:c.1824C>T
FHAD1 transcript variant X28 XM_011540592.2:c.1485= XM_011540592.2:c.1485C>T
FHAD1 transcript variant X22 XM_011540592.1:c.1485= XM_011540592.1:c.1485C>T
FHAD1 transcript variant X32 XM_011540595.2:c.1191= XM_011540595.2:c.1191C>T
FHAD1 transcript variant X26 XM_011540595.1:c.1191= XM_011540595.1:c.1191C>T
FHAD1 transcript variant X35 XM_017000213.2:c.1824= XM_017000213.2:c.1824C>T
FHAD1 transcript variant X36 XM_017000213.1:c.1824= XM_017000213.1:c.1824C>T
FHAD1 transcript variant X9 XM_047443734.1:c.1824= XM_047443734.1:c.1824C>T
FHAD1 transcript variant X24 XM_047443798.1:c.1824= XM_047443798.1:c.1824C>T
FHAD1 transcript variant X21 XM_047443776.1:c.1824= XM_047443776.1:c.1824C>T
FHAD1 transcript variant 3 NM_001391921.1:c.1824= NM_001391921.1:c.1824C>T
FHAD1 transcript variant 2 NM_001387888.1:c.*1849= NM_001387888.1:c.*1849C>T
FHAD1 transcript variant 4 NM_001391957.1:c.1773= NM_001391957.1:c.1773C>T
FHAD1 transcript variant X15 XM_047443743.1:c.1824= XM_047443743.1:c.1824C>T
FHAD1 transcript variant X20 XM_047443774.1:c.1824= XM_047443774.1:c.1824C>T
FHAD1 transcript variant X23 XM_047443790.1:c.1824= XM_047443790.1:c.1824C>T
FHAD1 transcript variant X29 XM_047443801.1:c.1716= XM_047443801.1:c.1716C>T
FHAD1 transcript variant X12 XM_047443737.1:c.1665= XM_047443737.1:c.1665C>T
FHAD1 transcript variant X39 XM_047443846.1:c.1566= XM_047443846.1:c.1566C>T
FHAD1 transcript variant X33 XM_047443835.1:c.891= XM_047443835.1:c.891C>T
FHAD1-AS1 transcript variant 1 NR_148918.1:n.384= NR_148918.1:n.384G>A
FHAD1-AS1 transcript variant 2 NR_148919.1:n.381= NR_148919.1:n.381G>A
FHAD1 transcript variant X40 XM_047443847.1:c.1773= XM_047443847.1:c.1773C>T
forkhead-associated domain-containing protein 1 isoform X8 XP_011538886.1:p.His608= XP_011538886.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X16 XP_011538890.1:p.His608= XP_011538890.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X6 XP_011538883.1:p.His608= XP_011538883.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X6 XP_011538884.1:p.His608= XP_011538884.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X29 XP_011538899.1:p.His608= XP_011538899.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X33 XP_011538900.1:p.His608= XP_011538900.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X25 XP_016855700.1:p.His608= XP_016855700.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X1 XP_016855687.1:p.His608= XP_016855687.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X2 XP_011538878.1:p.His608= XP_011538878.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X3 XP_011538879.1:p.His591= XP_011538879.1:p.His591=
forkhead-associated domain-containing protein 1 isoform X1 XP_016855688.1:p.His608= XP_016855688.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X10 XP_016855692.1:p.His608= XP_016855692.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X14 XP_016855695.1:p.His608= XP_016855695.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X15 XP_016855696.1:p.His529= XP_016855696.1:p.His529=
forkhead-associated domain-containing protein 1 isoform X22 XP_016855699.1:p.His608= XP_016855699.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X26 XP_016855701.1:p.His608= XP_016855701.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X32 XP_011538898.2:p.His167= XP_011538898.2:p.His167=
forkhead-associated domain-containing protein 1 isoform X31 XP_016855703.1:p.His608= XP_016855703.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X21 XP_024308671.1:p.His608= XP_024308671.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X21 XP_024308680.1:p.His608= XP_024308680.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X11 XP_024308655.1:p.His608= XP_024308655.1:p.His608=
forkhead-associated domain-containing protein 1 isoform 1 NP_443161.1:p.His591= NP_443161.1:p.His591=
forkhead-associated domain-containing protein 1 isoform X4 XP_016855689.1:p.His608= XP_016855689.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X5 XP_016855690.1:p.His608= XP_016855690.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X7 XP_016855691.1:p.His572= XP_016855691.1:p.His572=
forkhead-associated domain-containing protein 1 isoform X13 XP_016855694.1:p.His543= XP_016855694.1:p.His543=
forkhead-associated domain-containing protein 1 isoform X19 XP_024308666.1:p.His522= XP_024308666.1:p.His522=
forkhead-associated domain-containing protein 1 isoform X36 XP_024308686.1:p.His608= XP_024308686.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X23 XP_011538894.1:p.His495= XP_011538894.1:p.His495=
forkhead-associated domain-containing protein 1 isoform X27 XP_011538897.1:p.His397= XP_011538897.1:p.His397=
forkhead-associated domain-containing protein 1 isoform X30 XP_016855702.1:p.His608= XP_016855702.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X6 XP_047299690.1:p.His608= XP_047299690.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X21 XP_047299754.1:p.His608= XP_047299754.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X18 XP_047299732.1:p.His608= XP_047299732.1:p.His608=
forkhead-associated domain-containing protein 1 isoform 4 NP_001378886.1:p.His591= NP_001378886.1:p.His591=
forkhead-associated domain-containing protein 1 isoform X12 XP_047299699.1:p.His608= XP_047299699.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X17 XP_047299730.1:p.His608= XP_047299730.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X20 XP_047299746.1:p.His608= XP_047299746.1:p.His608=
forkhead-associated domain-containing protein 1 isoform X24 XP_047299757.1:p.His572= XP_047299757.1:p.His572=
forkhead-associated domain-containing protein 1 isoform X9 XP_047299693.1:p.His555= XP_047299693.1:p.His555=
forkhead-associated domain-containing protein 1 isoform X34 XP_047299802.1:p.His522= XP_047299802.1:p.His522=
forkhead-associated domain-containing protein 1 isoform X28 XP_047299791.1:p.His297= XP_047299791.1:p.His297=
forkhead-associated domain-containing protein 1 isoform X35 XP_047299803.1:p.His591= XP_047299803.1:p.His591=
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss3988845086 Apr 25, 2021 (155)
2 TOPMED ss4440192046 Apr 25, 2021 (155)
3 gnomAD - Genomes NC_000001.11 - 15329408 Apr 25, 2021 (155)
4 TopMed NC_000001.11 - 15329408 Apr 25, 2021 (155)
5 ALFA NC_000001.11 - 15329408 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3347903, 3798381, 14787044795, ss3988845086, ss4440192046 NC_000001.11:15329407:C:T NC_000001.11:15329407:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1489398293

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d