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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

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.

rs1481095048

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:151015664 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/250956, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MTHFD1L : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 250956 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 135190 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48888 A=0.99998 G=0.00002
gnomAD - Exomes American Sub 34464 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16246 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10042 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6126 A=1.0000 G=0.0000
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 6 NC_000006.12:g.151015664A>G
GRCh37.p13 chr 6 NC_000006.11:g.151336800A>G
MTHFD1L RefSeqGene NG_029185.2:g.154986A>G
Gene: MTHFD1L, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MTHFD1L transcript variant 4 NM_001242769.3:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant 7 NM_001350488.3:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant 8 NM_001350489.3:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant 10 NM_001350491.3:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant 5 NM_001350486.1:c.2359A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 5 NP_001337415.1:p.Ser787Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant 9 NM_001350490.1:c.433A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 9 NP_001337419.1:p.Ser145Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant 12 NM_001350493.1:c.2230A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 11 NP_001337422.1:p.Ser744Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant 2 NM_015440.5:c.2557A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 2 precursor NP_056255.2:p.Ser853Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant 1 NM_001242767.2:c.2560A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 1 precursor NP_001229696.1:p.Ser854Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant 11 NM_001350492.2:c.2230A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 11 NP_001337421.1:p.Ser744Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant 6 NM_001350487.2:c.2227A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 6 NP_001337416.1:p.Ser743Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant 3 NM_001242768.2:c.2362A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 3 NP_001229697.1:p.Ser788Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant 13 NR_146719.2:n.2678A>G N/A Non Coding Transcript Variant
MTHFD1L transcript variant 14 NR_146720.2:n.3586A>G N/A Non Coding Transcript Variant
MTHFD1L transcript variant X21 XM_005266911.6:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant X18 XM_011535737.4:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant X19 XM_011535738.4:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant X22 XM_024446396.2:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant X15 XM_047418614.1:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant X16 XM_047418615.1:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant X17 XM_047418616.1:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant X20 XM_047418617.1:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant X23 XM_047418618.1:c. N/A Genic Downstream Transcript Variant
MTHFD1L transcript variant X9 XM_011535730.2:c.2362A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X8 XP_011534032.1:p.Ser788Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X8 XM_024446395.1:c.2452A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X7 XP_024302163.1:p.Ser818Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X1 XM_047418609.1:c.2560A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X1 XP_047274565.1:p.Ser854Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X2 XM_005266907.6:c.2557A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X2 XP_005266964.1:p.Ser853Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X3 XM_017010703.3:c.2560A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X3 XP_016866192.1:p.Ser854Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X4 XM_017010702.3:c.2560A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X3 XP_016866191.1:p.Ser854Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X5 XM_011535729.4:c.2560A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X4 XP_011534031.1:p.Ser854Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X6 XM_047418610.1:c.2557A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X5 XP_047274566.1:p.Ser853Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X7 XM_047418611.1:c.2455A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X6 XP_047274567.1:p.Ser819Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X10 XM_011535731.3:c.2359A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X9 XP_011534033.1:p.Ser787Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X11 XM_011535732.3:c.2230A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10 XP_011534034.1:p.Ser744Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X12 XM_011535733.3:c.2230A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10 XP_011534035.1:p.Ser744Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X13 XM_047418612.1:c.2230A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10 XP_047274568.1:p.Ser744Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X14 XM_047418613.1:c.2227A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X11 XP_047274569.1:p.Ser743Gly S (Ser) > G (Gly) Missense Variant
MTHFD1L transcript variant X24 XM_047418619.1:c.433A>G S [AGC] > G [GGC] Coding Sequence Variant
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X21 XP_047274575.1:p.Ser145Gly S (Ser) > G (Gly) Missense 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 A= G
GRCh38.p14 chr 6 NC_000006.12:g.151015664= NC_000006.12:g.151015664A>G
GRCh37.p13 chr 6 NC_000006.11:g.151336800= NC_000006.11:g.151336800A>G
MTHFD1L RefSeqGene NG_029185.2:g.154986= NG_029185.2:g.154986A>G
MTHFD1L transcript variant 2 NM_015440.5:c.2557= NM_015440.5:c.2557A>G
MTHFD1L transcript variant 2 NM_015440.4:c.2557= NM_015440.4:c.2557A>G
MTHFD1L transcript variant 14 NR_146720.2:n.3586= NR_146720.2:n.3586A>G
MTHFD1L transcript variant 14 NR_146720.1:n.3625= NR_146720.1:n.3625A>G
MTHFD1L transcript variant 11 NM_001350492.2:c.2230= NM_001350492.2:c.2230A>G
MTHFD1L transcript variant 11 NM_001350492.1:c.2230= NM_001350492.1:c.2230A>G
MTHFD1L transcript variant 6 NM_001350487.2:c.2227= NM_001350487.2:c.2227A>G
MTHFD1L transcript variant 6 NM_001350487.1:c.2227= NM_001350487.1:c.2227A>G
MTHFD1L transcript variant 13 NR_146719.2:n.2678= NR_146719.2:n.2678A>G
MTHFD1L transcript variant 13 NR_146719.1:n.2701= NR_146719.1:n.2701A>G
MTHFD1L transcript variant 1 NM_001242767.2:c.2560= NM_001242767.2:c.2560A>G
MTHFD1L transcript variant 1 NM_001242767.1:c.2560= NM_001242767.1:c.2560A>G
MTHFD1L transcript variant 3 NM_001242768.2:c.2362= NM_001242768.2:c.2362A>G
MTHFD1L transcript variant 3 NM_001242768.1:c.2362= NM_001242768.1:c.2362A>G
MTHFD1L transcript variant 12 NM_001350493.1:c.2230= NM_001350493.1:c.2230A>G
MTHFD1L transcript variant 5 NM_001350486.1:c.2359= NM_001350486.1:c.2359A>G
MTHFD1L transcript variant 9 NM_001350490.1:c.433= NM_001350490.1:c.433A>G
MTHFD1L transcript variant X2 XM_005266907.6:c.2557= XM_005266907.6:c.2557A>G
MTHFD1L transcript variant X2 XM_005266907.5:c.2557= XM_005266907.5:c.2557A>G
MTHFD1L transcript variant X2 XM_005266907.4:c.2557= XM_005266907.4:c.2557A>G
MTHFD1L transcript variant X2 XM_005266907.3:c.2557= XM_005266907.3:c.2557A>G
MTHFD1L transcript variant X1 XM_005266907.2:c.2557= XM_005266907.2:c.2557A>G
MTHFD1L transcript variant X1 XM_005266907.1:c.2557= XM_005266907.1:c.2557A>G
MTHFD1L transcript variant X5 XM_011535729.4:c.2560= XM_011535729.4:c.2560A>G
MTHFD1L transcript variant X5 XM_011535729.3:c.2560= XM_011535729.3:c.2560A>G
MTHFD1L transcript variant X5 XM_011535729.2:c.2560= XM_011535729.2:c.2560A>G
MTHFD1L transcript variant X3 XM_011535729.1:c.2560= XM_011535729.1:c.2560A>G
MTHFD1L transcript variant X3 XM_017010703.3:c.2560= XM_017010703.3:c.2560A>G
MTHFD1L transcript variant X4 XM_017010703.2:c.2560= XM_017010703.2:c.2560A>G
MTHFD1L transcript variant X4 XM_017010703.1:c.2560= XM_017010703.1:c.2560A>G
MTHFD1L transcript variant X12 XM_011535733.3:c.2230= XM_011535733.3:c.2230A>G
MTHFD1L transcript variant X10 XM_011535733.2:c.2230= XM_011535733.2:c.2230A>G
MTHFD1L transcript variant X7 XM_011535733.1:c.2230= XM_011535733.1:c.2230A>G
MTHFD1L transcript variant X4 XM_017010702.3:c.2560= XM_017010702.3:c.2560A>G
MTHFD1L transcript variant X3 XM_017010702.2:c.2560= XM_017010702.2:c.2560A>G
MTHFD1L transcript variant X3 XM_017010702.1:c.2560= XM_017010702.1:c.2560A>G
MTHFD1L transcript variant X11 XM_011535732.3:c.2230= XM_011535732.3:c.2230A>G
MTHFD1L transcript variant X9 XM_011535732.2:c.2230= XM_011535732.2:c.2230A>G
MTHFD1L transcript variant X6 XM_011535732.1:c.2230= XM_011535732.1:c.2230A>G
MTHFD1L transcript variant X10 XM_011535731.3:c.2359= XM_011535731.3:c.2359A>G
MTHFD1L transcript variant X8 XM_011535731.2:c.2359= XM_011535731.2:c.2359A>G
MTHFD1L transcript variant X5 XM_011535731.1:c.2359= XM_011535731.1:c.2359A>G
MTHFD1L transcript variant X9 XM_011535730.2:c.2362= XM_011535730.2:c.2362A>G
MTHFD1L transcript variant X4 XM_011535730.1:c.2362= XM_011535730.1:c.2362A>G
MTHFD1L transcript variant X24 XM_047418619.1:c.433= XM_047418619.1:c.433A>G
MTHFD1L transcript variant X6 XM_047418610.1:c.2557= XM_047418610.1:c.2557A>G
MTHFD1L transcript variant X7 XM_047418611.1:c.2455= XM_047418611.1:c.2455A>G
MTHFD1L transcript variant X8 XM_024446395.1:c.2452= XM_024446395.1:c.2452A>G
MTHFD1L transcript variant X14 XM_047418613.1:c.2227= XM_047418613.1:c.2227A>G
MTHFD1L transcript variant X1 XM_047418609.1:c.2560= XM_047418609.1:c.2560A>G
MTHFD1L transcript variant X13 XM_047418612.1:c.2230= XM_047418612.1:c.2230A>G
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 2 precursor NP_056255.2:p.Ser853= NP_056255.2:p.Ser853Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 11 NP_001337421.1:p.Ser744= NP_001337421.1:p.Ser744Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 6 NP_001337416.1:p.Ser743= NP_001337416.1:p.Ser743Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 1 precursor NP_001229696.1:p.Ser854= NP_001229696.1:p.Ser854Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 3 NP_001229697.1:p.Ser788= NP_001229697.1:p.Ser788Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 11 NP_001337422.1:p.Ser744= NP_001337422.1:p.Ser744Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 5 NP_001337415.1:p.Ser787= NP_001337415.1:p.Ser787Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 9 NP_001337419.1:p.Ser145= NP_001337419.1:p.Ser145Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X2 XP_005266964.1:p.Ser853= XP_005266964.1:p.Ser853Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X4 XP_011534031.1:p.Ser854= XP_011534031.1:p.Ser854Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X3 XP_016866192.1:p.Ser854= XP_016866192.1:p.Ser854Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10 XP_011534035.1:p.Ser744= XP_011534035.1:p.Ser744Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X3 XP_016866191.1:p.Ser854= XP_016866191.1:p.Ser854Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10 XP_011534034.1:p.Ser744= XP_011534034.1:p.Ser744Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X9 XP_011534033.1:p.Ser787= XP_011534033.1:p.Ser787Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X8 XP_011534032.1:p.Ser788= XP_011534032.1:p.Ser788Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X21 XP_047274575.1:p.Ser145= XP_047274575.1:p.Ser145Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X5 XP_047274566.1:p.Ser853= XP_047274566.1:p.Ser853Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X6 XP_047274567.1:p.Ser819= XP_047274567.1:p.Ser819Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X7 XP_024302163.1:p.Ser818= XP_024302163.1:p.Ser818Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X11 XP_047274569.1:p.Ser743= XP_047274569.1:p.Ser743Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X1 XP_047274565.1:p.Ser854= XP_047274565.1:p.Ser854Gly
monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10 XP_047274568.1:p.Ser744= XP_047274568.1:p.Ser744Gly
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2736135261 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000006.11 - 151336800 Jul 13, 2019 (153)
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
5287798, ss2736135261 NC_000006.11:151336799:A:G NC_000006.12:151015663:A:G (self)
Help

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

No publications for rs1481095048

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