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dbSNP Short Genetic Variations

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.


Current Build 151

Released July 17, 2018

Homo sapiens
chr14:54844137 (GRCh38.p7) 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.

Variation Type
SNV Single Nucleotide Variation
Clinical Significance
Reported in ClinVar
Gene : Consequence
GCH1 : Missense Variant
2 citations
Genomic View
See rs on genome

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.p7 chr 14 NC_000014.9:g.54844137C>T
GRCh37.p13 chr 14 NC_000014.8:g.55310855C>T
GCH1 RefSeqGene NG_008647.1:g.63688G>A
Gene: GCH1, GTP cyclohydrolase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GCH1 transcript variant 3 NM_001024070.1:c. N/A Intron Variant
GCH1 transcript variant 4 NM_001024071.1:c. N/A Intron Variant
GCH1 transcript variant 1 NM_000161.2:c.633G>A M [ATG] > I [ATA] Coding Sequence Variant
GTP cyclohydrolase 1 isoform 1 NP_000152.1:p.Met...


M (Met) > I (Ile) Missense Variant
GCH1 transcript variant 2 NM_001024024.1:c....


M [ATG] > I [ATA] Coding Sequence Variant
GTP cyclohydrolase 1 isoform 1 NP_001019195.1:p....


M (Met) > I (Ile) Missense Variant
GCH1 transcript variant X1 XM_017021218.1:c....


M [ATG] > I [ATA] Coding Sequence Variant
GTP cyclohydrolase 1 isoform X1 XP_016876707.1:p....


M (Met) > I (Ile) Missense Variant

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.

Allele: T (allele ID: 24326 )
ClinVar Accession Disease Names Clinical Significance
RCV000009870.2 GTP cyclohydrolase I deficiency Pathogenic

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").


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 Note
GRCh38.p7 chr 14 NC_000014.9:g.54844137C= NC_000014.9:g.54844137C>T
GRCh37.p13 chr 14 NC_000014.8:g.55310855C= NC_000014.8:g.55310855C>T
GCH1 RefSeqGene NG_008647.1:g.63688G= NG_008647.1:g.63688G>A
GCH1 transcript variant 1 NM_000161.2:c.633G= NM_000161.2:c.633G>A
GCH1 transcript variant 2 NM_001024024.1:c.633G= NM_001024024.1:c.633G>A
GCH1 transcript variant X1 XM_017021218.1:c.339G= XM_017021218.1:c.339G>A
GTP cyclohydrolase 1 isoform 1 NP_000152.1:p.Met211= NP_000152.1:p.Met211Ile
GTP cyclohydrolase 1 isoform 1 NP_001019195.1:p.Met211= NP_001019195.1:p.Met211Ile
GTP cyclohydrolase 1 isoform X1 XP_016876707.1:p.Met113= XP_016876707.1:p.Met113Ile

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, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMICIA ss244239262 Aug 29, 2012 (137)
2 OMIM-CURATED-RECORDS ss289481235 Jan 06, 2011 (133)
3 ClinVar RCV000009870.2 Jul 20, 2018 (151)

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
ss244239262, ss289481235 NC_000014.9:54844136:C= NC_000014.9:54844136:C= (self)
RCV000009870.2, ss244239262, ss289481235 NC_000014.9:54844136:C>T NC_000014.9:54844136:C>T (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs104894443
PMID Title Author Year Journal
7730309 Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. Ichinose H et al. 1995 The Journal of biological chemistry
7869202 A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. Blau N et al. 1995 The Journal of pediatrics

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: 0.1.4.post833+d3ba21e