Name: rs1491447529
Published: September 21, 2022
License: Open Access

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.

rs1491447529

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:37025609-37025610 (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: insA / insATA / insATATA / ins(AT)…
insA / insATA / insATATA / ins(AT)₃A / ins(AT)₄A / ins(AT)₅A / ins(AT)₆A / ins(AT)₉A / ins(AT)₁₁A / insATATGTA
Variation Type: Insertion
Frequency: insATATGTA=0.000004 (1/264690, TOPMED)
insA=0.00000 (0/11502, ALFA)
insATA=0.00000 (0/11502, ALFA) (+ 7 more)
insATATA=0.00000 (0/11502, ALFA)
ins(AT)₃A=0.00000 (0/11502, ALFA)
ins(AT)₄A=0.00000 (0/11502, ALFA)
ins(AT)₅A=0.00000 (0/11502, ALFA)
ins(AT)₆A=0.00000 (0/11502, ALFA)
insATATGTA=0.00000 (0/11502, ALFA)
insA=0.0160 (28/1746, Korea1K)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MLH1 : Intron 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	HWEP
Total	Global	11502	=1.00000	A=0.00000, ATA=0.00000, ATATA=0.00000, ATATATA=0.00000, ATATATATA=0.00000, ATATATATATA=0.00000, ATATATATATATA=0.00000, ATATGTA=0.00000	1.0	N/A
European	Sub	7578	=1.0000	A=0.0000, ATA=0.0000, ATATA=0.0000, ATATATA=0.0000, ATATATATA=0.0000, ATATATATATA=0.0000, ATATATATATATA=0.0000, ATATGTA=0.0000	1.0	N/A
African	Sub	2534	=1.0000	A=0.0000, ATA=0.0000, ATATA=0.0000, ATATATA=0.0000, ATATATATA=0.0000, ATATATATATA=0.0000, ATATATATATATA=0.0000, ATATGTA=0.0000	1.0	N/A
African Others	Sub	98	=1.00	A=0.00, ATA=0.00, ATATA=0.00, ATATATA=0.00, ATATATATA=0.00, ATATATATATA=0.00, ATATATATATATA=0.00, ATATGTA=0.00	1.0	N/A
African American	Sub	2436	=1.0000	A=0.0000, ATA=0.0000, ATATA=0.0000, ATATATA=0.0000, ATATATATA=0.0000, ATATATATATA=0.0000, ATATATATATATA=0.0000, ATATGTA=0.0000	1.0	N/A
Asian	Sub	108	=1.000	A=0.000, ATA=0.000, ATATA=0.000, ATATATA=0.000, ATATATATA=0.000, ATATATATATA=0.000, ATATATATATATA=0.000, ATATGTA=0.000	1.0	N/A
East Asian	Sub	84	=1.00	A=0.00, ATA=0.00, ATATA=0.00, ATATATA=0.00, ATATATATA=0.00, ATATATATATA=0.00, ATATATATATATA=0.00, ATATGTA=0.00	1.0	N/A
Other Asian	Sub	24	=1.00	A=0.00, ATA=0.00, ATATA=0.00, ATATATA=0.00, ATATATATA=0.00, ATATATATATA=0.00, ATATATATATATA=0.00, ATATGTA=0.00	1.0	N/A
Latin American 1	Sub	142	=1.000	A=0.000, ATA=0.000, ATATA=0.000, ATATATA=0.000, ATATATATA=0.000, ATATATATATA=0.000, ATATATATATATA=0.000, ATATGTA=0.000	1.0	N/A
Latin American 2	Sub	604	=1.000	A=0.000, ATA=0.000, ATATA=0.000, ATATATA=0.000, ATATATATA=0.000, ATATATATATA=0.000, ATATATATATATA=0.000, ATATGTA=0.000	1.0	N/A
South Asian	Sub	90	=1.00	A=0.00, ATA=0.00, ATATA=0.00, ATATATA=0.00, ATATATATA=0.00, ATATATATATA=0.00, ATATATATATATA=0.00, ATATGTA=0.00	1.0	N/A
Other	Sub	446	=1.000	A=0.000, ATA=0.000, ATATA=0.000, ATATATA=0.000, ATATATATA=0.000, ATATATATATA=0.000, ATATATATATATA=0.000, ATATGTA=0.000	1.0	N/A

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	- No frequency provided	insATATGTA=0.000004
Allele Frequency Aggregator	Total	Global	11502	- No frequency provided	insA=0.00000, insATA=0.00000, insATATA=0.00000, ins(AT)₃A=0.00000, ins(AT)₄A=0.00000, ins(AT)₅A=0.00000, ins(AT)₆A=0.00000, insATATGTA=0.00000
Allele Frequency Aggregator	European	Sub	7578	- No frequency provided	insA=0.0000, insATA=0.0000, insATATA=0.0000, ins(AT)₃A=0.0000, ins(AT)₄A=0.0000, ins(AT)₅A=0.0000, ins(AT)₆A=0.0000, insATATGTA=0.0000
Allele Frequency Aggregator	African	Sub	2534	- No frequency provided	insA=0.0000, insATA=0.0000, insATATA=0.0000, ins(AT)₃A=0.0000, ins(AT)₄A=0.0000, ins(AT)₅A=0.0000, ins(AT)₆A=0.0000, insATATGTA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	604	- No frequency provided	insA=0.000, insATA=0.000, insATATA=0.000, ins(AT)₃A=0.000, ins(AT)₄A=0.000, ins(AT)₅A=0.000, ins(AT)₆A=0.000, insATATGTA=0.000
Allele Frequency Aggregator	Other	Sub	446	- No frequency provided	insA=0.000, insATA=0.000, insATATA=0.000, ins(AT)₃A=0.000, ins(AT)₄A=0.000, ins(AT)₅A=0.000, ins(AT)₆A=0.000, insATATGTA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	142	- No frequency provided	insA=0.000, insATA=0.000, insATATA=0.000, ins(AT)₃A=0.000, ins(AT)₄A=0.000, ins(AT)₅A=0.000, ins(AT)₆A=0.000, insATATGTA=0.000
Allele Frequency Aggregator	Asian	Sub	108	- No frequency provided	insA=0.000, insATA=0.000, insATATA=0.000, ins(AT)₃A=0.000, ins(AT)₄A=0.000, ins(AT)₅A=0.000, ins(AT)₆A=0.000, insATATGTA=0.000
Allele Frequency Aggregator	South Asian	Sub	90	- No frequency provided	insA=0.00, insATA=0.00, insATATA=0.00, ins(AT)₃A=0.00, ins(AT)₄A=0.00, ins(AT)₅A=0.00, ins(AT)₆A=0.00, insATATGTA=0.00
Korean Genome Project	KOREAN	Study-wide	1746	- No frequency provided	insA=0.0160

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 3	NC_000003.12:g.37025609_37025610insA
GRCh38.p14 chr 3	NC_000003.12:g.37025609_37025610insATA
GRCh38.p14 chr 3	NC_000003.12:g.37025609_37025610insATATA
GRCh38.p14 chr 3	NC_000003.12:g.37025609_37025610insATATATA
GRCh38.p14 chr 3	NC_000003.12:g.37025609_37025610insATATATATA
GRCh38.p14 chr 3	NC_000003.12:g.37025609_37025610insATATATATATA
GRCh38.p14 chr 3	NC_000003.12:g.37025609_37025610insATATATATATATA
GRCh38.p14 chr 3	NC_000003.12:g.37025609_37025610insATATATATATATATATATA
GRCh38.p14 chr 3	NC_000003.12:g.37025609_37025610insATATATATATATATATATATATA
GRCh38.p14 chr 3	NC_000003.12:g.37025609_37025610insATATGTA
GRCh37.p13 chr 3	NC_000003.11:g.37067100_37067101insA
GRCh37.p13 chr 3	NC_000003.11:g.37067100_37067101insATA
GRCh37.p13 chr 3	NC_000003.11:g.37067100_37067101insATATA
GRCh37.p13 chr 3	NC_000003.11:g.37067100_37067101insATATATA
GRCh37.p13 chr 3	NC_000003.11:g.37067100_37067101insATATATATA
GRCh37.p13 chr 3	NC_000003.11:g.37067100_37067101insATATATATATA
GRCh37.p13 chr 3	NC_000003.11:g.37067100_37067101insATATATATATATA
GRCh37.p13 chr 3	NC_000003.11:g.37067100_37067101insATATATATATATATATATA
GRCh37.p13 chr 3	NC_000003.11:g.37067100_37067101insATATATATATATATATATATATA
GRCh37.p13 chr 3	NC_000003.11:g.37067100_37067101insATATGTA
MLH1 RefSeqGene (LRG_216)	NG_007109.2:g.37260_37261insA
MLH1 RefSeqGene (LRG_216)	NG_007109.2:g.37260_37261insATA
MLH1 RefSeqGene (LRG_216)	NG_007109.2:g.37260_37261insATATA
MLH1 RefSeqGene (LRG_216)	NG_007109.2:g.37260_37261insATATATA
MLH1 RefSeqGene (LRG_216)	NG_007109.2:g.37260_37261insATATATATA
MLH1 RefSeqGene (LRG_216)	NG_007109.2:g.37260_37261insATATATATATA
MLH1 RefSeqGene (LRG_216)	NG_007109.2:g.37260_37261insATATATATATATA
MLH1 RefSeqGene (LRG_216)	NG_007109.2:g.37260_37261insATATATATATATATATATA
MLH1 RefSeqGene (LRG_216)	NG_007109.2:g.37260_37261insATATATATATATATATATATATA
MLH1 RefSeqGene (LRG_216)	NG_007109.2:g.37260_37261insATATGTA

Gene: MLH1, mutL homolog 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MLH1 transcript variant 1	NM_000249.4:c.1039-28_103… NM_000249.4:c.1039-28_1039-27insA	N/A	Intron Variant
MLH1 transcript variant 2	NM_001167617.3:c.745-28_7… NM_001167617.3:c.745-28_745-27insA	N/A	Intron Variant
MLH1 transcript variant 3	NM_001167618.3:c.316-28_3… NM_001167618.3:c.316-28_316-27insA	N/A	Intron Variant
MLH1 transcript variant 4	NM_001167619.3:c.316-28_3… NM_001167619.3:c.316-28_316-27insA	N/A	Intron Variant
MLH1 transcript variant 5	NM_001258271.2:c.1039-28_… NM_001258271.2:c.1039-28_1039-27insA	N/A	Intron Variant
MLH1 transcript variant 6	NM_001258273.2:c.316-28_3… NM_001258273.2:c.316-28_316-27insA	N/A	Intron Variant
MLH1 transcript variant 7	NM_001258274.3:c.316-28_3… NM_001258274.3:c.316-28_316-27insA	N/A	Intron Variant
MLH1 transcript variant 8	NM_001354615.2:c.316-28_3… NM_001354615.2:c.316-28_316-27insA	N/A	Intron Variant
MLH1 transcript variant 9	NM_001354616.2:c.316-28_3… NM_001354616.2:c.316-28_316-27insA	N/A	Intron Variant
MLH1 transcript variant 10	NM_001354617.2:c.316-28_3… NM_001354617.2:c.316-28_316-27insA	N/A	Intron Variant
MLH1 transcript variant 11	NM_001354618.2:c.316-28_3… NM_001354618.2:c.316-28_316-27insA	N/A	Intron Variant
MLH1 transcript variant 12	NM_001354619.2:c.316-28_3… NM_001354619.2:c.316-28_316-27insA	N/A	Intron Variant
MLH1 transcript variant 13	NM_001354620.2:c.745-28_7… NM_001354620.2:c.745-28_745-27insA	N/A	Intron Variant
MLH1 transcript variant 14	NM_001354621.2:c.16-28_16… NM_001354621.2:c.16-28_16-27insA	N/A	Intron Variant
MLH1 transcript variant 15	NM_001354622.2:c.16-28_16… NM_001354622.2:c.16-28_16-27insA	N/A	Intron Variant
MLH1 transcript variant 16	NM_001354623.2:c.16-28_16… NM_001354623.2:c.16-28_16-27insA	N/A	Intron Variant
MLH1 transcript variant 17	NM_001354624.2:c.-36-28_-… NM_001354624.2:c.-36-28_-36-27insA	N/A	Intron Variant
MLH1 transcript variant 18	NM_001354625.2:c.-36-28_-… NM_001354625.2:c.-36-28_-36-27insA	N/A	Intron Variant
MLH1 transcript variant 19	NM_001354626.2:c.-36-28_-… NM_001354626.2:c.-36-28_-36-27insA	N/A	Intron Variant
MLH1 transcript variant 20	NM_001354627.2:c.-36-28_-… NM_001354627.2:c.-36-28_-36-27insA	N/A	Intron Variant
MLH1 transcript variant 21	NM_001354628.2:c.1039-28_… NM_001354628.2:c.1039-28_1039-27insA	N/A	Intron Variant
MLH1 transcript variant 22	NM_001354629.2:c.940-28_9… NM_001354629.2:c.940-28_940-27insA	N/A	Intron Variant
MLH1 transcript variant 23	NM_001354630.2:c.1039-28_… NM_001354630.2:c.1039-28_1039-27insA	N/A	Intron Variant
MLH1 transcript variant X2	XM_005265161.3:c.832-28_8… XM_005265161.3:c.832-28_832-27insA	N/A	Intron Variant
MLH1 transcript variant X1	XM_047448152.1:c.940-28_9… XM_047448152.1:c.940-28_940-27insA	N/A	Intron Variant
MLH1 transcript variant X3	XM_047448153.1:c.316-28_3… XM_047448153.1:c.316-28_316-27insA	N/A	Intron Variant
MLH1 transcript variant X4	XM_047448154.1:c.316-28_3… XM_047448154.1:c.316-28_316-27insA	N/A	Intron Variant
MLH1 transcript variant X5	XM_047448155.1:c.316-28_3… XM_047448155.1:c.316-28_316-27insA	N/A	Intron 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: insA (allele ID: 915632 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001184986.1	Hereditary cancer-predisposing syndrome	Likely-Benign
RCV002268441.2	not specified	Likely-Benign

Allele: insATA (allele ID: 915691 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001191626.1	Hereditary cancer-predisposing syndrome	Benign

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	=	insA	insATA	insATATA	ins(AT)₃A	ins(AT)₄A	ins(AT)₅A	ins(AT)₆A	ins(AT)₉A	ins(AT)₁₁A	insATATGTA
GRCh38.p14 chr 3	NC_000003.12:g.37025609_37025610=	NC_000003.12:g.37025609_37025610insA	NC_000003.12:g.37025609_37025610insATA	NC_000003.12:g.37025609_37025610insATATA	NC_000003.12:g.37025609_37025610insATATATA	NC_000003.12:g.37025609_37025610insATATATATA	NC_000003.12:g.37025609_37025610insATATATATATA	NC_000003.12:g.37025609_37025610insATATATATATATA	NC_000003.12:g.37025609_37025610insATATATATATATATATATA	NC_000003.12:g.37025609_37025610insATATATATATATATATATATATA	NC_000003.12:g.37025609_37025610insATATGTA
GRCh37.p13 chr 3	NC_000003.11:g.37067100_37067101=	NC_000003.11:g.37067100_37067101insA	NC_000003.11:g.37067100_37067101insATA	NC_000003.11:g.37067100_37067101insATATA	NC_000003.11:g.37067100_37067101insATATATA	NC_000003.11:g.37067100_37067101insATATATATA	NC_000003.11:g.37067100_37067101insATATATATATA	NC_000003.11:g.37067100_37067101insATATATATATATA	NC_000003.11:g.37067100_37067101insATATATATATATATATATA	NC_000003.11:g.37067100_37067101insATATATATATATATATATATATA	NC_000003.11:g.37067100_37067101insATATGTA
MLH1 RefSeqGene (LRG_216)	NG_007109.2:g.37260_37261=	NG_007109.2:g.37260_37261insA	NG_007109.2:g.37260_37261insATA	NG_007109.2:g.37260_37261insATATA	NG_007109.2:g.37260_37261insATATATA	NG_007109.2:g.37260_37261insATATATATA	NG_007109.2:g.37260_37261insATATATATATA	NG_007109.2:g.37260_37261insATATATATATATA	NG_007109.2:g.37260_37261insATATATATATATATATATA	NG_007109.2:g.37260_37261insATATATATATATATATATATATA	NG_007109.2:g.37260_37261insATATGTA
MLH1 transcript variant 1	NM_000249.3:c.1039-27=	NM_000249.3:c.1039-28_1039-27insA	NM_000249.3:c.1039-28_1039-27insATA	NM_000249.3:c.1039-28_1039-27insATATA	NM_000249.3:c.1039-28_1039-27insATATATA	NM_000249.3:c.1039-28_1039-27insATATATATA	NM_000249.3:c.1039-28_1039-27insATATATATATA	NM_000249.3:c.1039-28_1039-27insATATATATATATA	NM_000249.3:c.1039-28_1039-27insATATATATATATATATATA	NM_000249.3:c.1039-28_1039-27insATATATATATATATATATATATA	NM_000249.3:c.1039-28_1039-27insATATGTA
MLH1 transcript variant 1	NM_000249.4:c.1039-27=	NM_000249.4:c.1039-28_1039-27insA	NM_000249.4:c.1039-28_1039-27insATA	NM_000249.4:c.1039-28_1039-27insATATA	NM_000249.4:c.1039-28_1039-27insATATATA	NM_000249.4:c.1039-28_1039-27insATATATATA	NM_000249.4:c.1039-28_1039-27insATATATATATA	NM_000249.4:c.1039-28_1039-27insATATATATATATA	NM_000249.4:c.1039-28_1039-27insATATATATATATATATATA	NM_000249.4:c.1039-28_1039-27insATATATATATATATATATATATA	NM_000249.4:c.1039-28_1039-27insATATGTA
MLH1 transcript variant 2	NM_001167617.1:c.745-27=	NM_001167617.1:c.745-28_745-27insA	NM_001167617.1:c.745-28_745-27insATA	NM_001167617.1:c.745-28_745-27insATATA	NM_001167617.1:c.745-28_745-27insATATATA	NM_001167617.1:c.745-28_745-27insATATATATA	NM_001167617.1:c.745-28_745-27insATATATATATA	NM_001167617.1:c.745-28_745-27insATATATATATATA	NM_001167617.1:c.745-28_745-27insATATATATATATATATATA	NM_001167617.1:c.745-28_745-27insATATATATATATATATATATATA	NM_001167617.1:c.745-28_745-27insATATGTA
MLH1 transcript variant 2	NM_001167617.3:c.745-27=	NM_001167617.3:c.745-28_745-27insA	NM_001167617.3:c.745-28_745-27insATA	NM_001167617.3:c.745-28_745-27insATATA	NM_001167617.3:c.745-28_745-27insATATATA	NM_001167617.3:c.745-28_745-27insATATATATA	NM_001167617.3:c.745-28_745-27insATATATATATA	NM_001167617.3:c.745-28_745-27insATATATATATATA	NM_001167617.3:c.745-28_745-27insATATATATATATATATATA	NM_001167617.3:c.745-28_745-27insATATATATATATATATATATATA	NM_001167617.3:c.745-28_745-27insATATGTA
MLH1 transcript variant 3	NM_001167618.1:c.316-27=	NM_001167618.1:c.316-28_316-27insA	NM_001167618.1:c.316-28_316-27insATA	NM_001167618.1:c.316-28_316-27insATATA	NM_001167618.1:c.316-28_316-27insATATATA	NM_001167618.1:c.316-28_316-27insATATATATA	NM_001167618.1:c.316-28_316-27insATATATATATA	NM_001167618.1:c.316-28_316-27insATATATATATATA	NM_001167618.1:c.316-28_316-27insATATATATATATATATATA	NM_001167618.1:c.316-28_316-27insATATATATATATATATATATATA	NM_001167618.1:c.316-28_316-27insATATGTA
MLH1 transcript variant 3	NM_001167618.3:c.316-27=	NM_001167618.3:c.316-28_316-27insA	NM_001167618.3:c.316-28_316-27insATA	NM_001167618.3:c.316-28_316-27insATATA	NM_001167618.3:c.316-28_316-27insATATATA	NM_001167618.3:c.316-28_316-27insATATATATA	NM_001167618.3:c.316-28_316-27insATATATATATA	NM_001167618.3:c.316-28_316-27insATATATATATATA	NM_001167618.3:c.316-28_316-27insATATATATATATATATATA	NM_001167618.3:c.316-28_316-27insATATATATATATATATATATATA	NM_001167618.3:c.316-28_316-27insATATGTA
MLH1 transcript variant 4	NM_001167619.1:c.316-27=	NM_001167619.1:c.316-28_316-27insA	NM_001167619.1:c.316-28_316-27insATA	NM_001167619.1:c.316-28_316-27insATATA	NM_001167619.1:c.316-28_316-27insATATATA	NM_001167619.1:c.316-28_316-27insATATATATA	NM_001167619.1:c.316-28_316-27insATATATATATA	NM_001167619.1:c.316-28_316-27insATATATATATATA	NM_001167619.1:c.316-28_316-27insATATATATATATATATATA	NM_001167619.1:c.316-28_316-27insATATATATATATATATATATATA	NM_001167619.1:c.316-28_316-27insATATGTA
MLH1 transcript variant 4	NM_001167619.3:c.316-27=	NM_001167619.3:c.316-28_316-27insA	NM_001167619.3:c.316-28_316-27insATA	NM_001167619.3:c.316-28_316-27insATATA	NM_001167619.3:c.316-28_316-27insATATATA	NM_001167619.3:c.316-28_316-27insATATATATA	NM_001167619.3:c.316-28_316-27insATATATATATA	NM_001167619.3:c.316-28_316-27insATATATATATATA	NM_001167619.3:c.316-28_316-27insATATATATATATATATATA	NM_001167619.3:c.316-28_316-27insATATATATATATATATATATATA	NM_001167619.3:c.316-28_316-27insATATGTA
MLH1 transcript variant 5	NM_001258271.1:c.1039-27=	NM_001258271.1:c.1039-28_1039-27insA	NM_001258271.1:c.1039-28_1039-27insATA	NM_001258271.1:c.1039-28_1039-27insATATA	NM_001258271.1:c.1039-28_1039-27insATATATA	NM_001258271.1:c.1039-28_1039-27insATATATATA	NM_001258271.1:c.1039-28_1039-27insATATATATATA	NM_001258271.1:c.1039-28_1039-27insATATATATATATA	NM_001258271.1:c.1039-28_1039-27insATATATATATATATATATA	NM_001258271.1:c.1039-28_1039-27insATATATATATATATATATATATA	NM_001258271.1:c.1039-28_1039-27insATATGTA
MLH1 transcript variant 5	NM_001258271.2:c.1039-27=	NM_001258271.2:c.1039-28_1039-27insA	NM_001258271.2:c.1039-28_1039-27insATA	NM_001258271.2:c.1039-28_1039-27insATATA	NM_001258271.2:c.1039-28_1039-27insATATATA	NM_001258271.2:c.1039-28_1039-27insATATATATA	NM_001258271.2:c.1039-28_1039-27insATATATATATA	NM_001258271.2:c.1039-28_1039-27insATATATATATATA	NM_001258271.2:c.1039-28_1039-27insATATATATATATATATATA	NM_001258271.2:c.1039-28_1039-27insATATATATATATATATATATATA	NM_001258271.2:c.1039-28_1039-27insATATGTA
MLH1 transcript variant 6	NM_001258273.1:c.316-27=	NM_001258273.1:c.316-28_316-27insA	NM_001258273.1:c.316-28_316-27insATA	NM_001258273.1:c.316-28_316-27insATATA	NM_001258273.1:c.316-28_316-27insATATATA	NM_001258273.1:c.316-28_316-27insATATATATA	NM_001258273.1:c.316-28_316-27insATATATATATA	NM_001258273.1:c.316-28_316-27insATATATATATATA	NM_001258273.1:c.316-28_316-27insATATATATATATATATATA	NM_001258273.1:c.316-28_316-27insATATATATATATATATATATATA	NM_001258273.1:c.316-28_316-27insATATGTA
MLH1 transcript variant 6	NM_001258273.2:c.316-27=	NM_001258273.2:c.316-28_316-27insA	NM_001258273.2:c.316-28_316-27insATA	NM_001258273.2:c.316-28_316-27insATATA	NM_001258273.2:c.316-28_316-27insATATATA	NM_001258273.2:c.316-28_316-27insATATATATA	NM_001258273.2:c.316-28_316-27insATATATATATA	NM_001258273.2:c.316-28_316-27insATATATATATATA	NM_001258273.2:c.316-28_316-27insATATATATATATATATATA	NM_001258273.2:c.316-28_316-27insATATATATATATATATATATATA	NM_001258273.2:c.316-28_316-27insATATGTA
MLH1 transcript variant 7	NM_001258274.1:c.316-27=	NM_001258274.1:c.316-28_316-27insA	NM_001258274.1:c.316-28_316-27insATA	NM_001258274.1:c.316-28_316-27insATATA	NM_001258274.1:c.316-28_316-27insATATATA	NM_001258274.1:c.316-28_316-27insATATATATA	NM_001258274.1:c.316-28_316-27insATATATATATA	NM_001258274.1:c.316-28_316-27insATATATATATATA	NM_001258274.1:c.316-28_316-27insATATATATATATATATATA	NM_001258274.1:c.316-28_316-27insATATATATATATATATATATATA	NM_001258274.1:c.316-28_316-27insATATGTA
MLH1 transcript variant 7	NM_001258274.3:c.316-27=	NM_001258274.3:c.316-28_316-27insA	NM_001258274.3:c.316-28_316-27insATA	NM_001258274.3:c.316-28_316-27insATATA	NM_001258274.3:c.316-28_316-27insATATATA	NM_001258274.3:c.316-28_316-27insATATATATA	NM_001258274.3:c.316-28_316-27insATATATATATA	NM_001258274.3:c.316-28_316-27insATATATATATATA	NM_001258274.3:c.316-28_316-27insATATATATATATATATATA	NM_001258274.3:c.316-28_316-27insATATATATATATATATATATATA	NM_001258274.3:c.316-28_316-27insATATGTA
MLH1 transcript variant 8	NM_001354615.2:c.316-27=	NM_001354615.2:c.316-28_316-27insA	NM_001354615.2:c.316-28_316-27insATA	NM_001354615.2:c.316-28_316-27insATATA	NM_001354615.2:c.316-28_316-27insATATATA	NM_001354615.2:c.316-28_316-27insATATATATA	NM_001354615.2:c.316-28_316-27insATATATATATA	NM_001354615.2:c.316-28_316-27insATATATATATATA	NM_001354615.2:c.316-28_316-27insATATATATATATATATATA	NM_001354615.2:c.316-28_316-27insATATATATATATATATATATATA	NM_001354615.2:c.316-28_316-27insATATGTA
MLH1 transcript variant 9	NM_001354616.2:c.316-27=	NM_001354616.2:c.316-28_316-27insA	NM_001354616.2:c.316-28_316-27insATA	NM_001354616.2:c.316-28_316-27insATATA	NM_001354616.2:c.316-28_316-27insATATATA	NM_001354616.2:c.316-28_316-27insATATATATA	NM_001354616.2:c.316-28_316-27insATATATATATA	NM_001354616.2:c.316-28_316-27insATATATATATATA	NM_001354616.2:c.316-28_316-27insATATATATATATATATATA	NM_001354616.2:c.316-28_316-27insATATATATATATATATATATATA	NM_001354616.2:c.316-28_316-27insATATGTA
MLH1 transcript variant 10	NM_001354617.2:c.316-27=	NM_001354617.2:c.316-28_316-27insA	NM_001354617.2:c.316-28_316-27insATA	NM_001354617.2:c.316-28_316-27insATATA	NM_001354617.2:c.316-28_316-27insATATATA	NM_001354617.2:c.316-28_316-27insATATATATA	NM_001354617.2:c.316-28_316-27insATATATATATA	NM_001354617.2:c.316-28_316-27insATATATATATATA	NM_001354617.2:c.316-28_316-27insATATATATATATATATATA	NM_001354617.2:c.316-28_316-27insATATATATATATATATATATATA	NM_001354617.2:c.316-28_316-27insATATGTA
MLH1 transcript variant 11	NM_001354618.2:c.316-27=	NM_001354618.2:c.316-28_316-27insA	NM_001354618.2:c.316-28_316-27insATA	NM_001354618.2:c.316-28_316-27insATATA	NM_001354618.2:c.316-28_316-27insATATATA	NM_001354618.2:c.316-28_316-27insATATATATA	NM_001354618.2:c.316-28_316-27insATATATATATA	NM_001354618.2:c.316-28_316-27insATATATATATATA	NM_001354618.2:c.316-28_316-27insATATATATATATATATATA	NM_001354618.2:c.316-28_316-27insATATATATATATATATATATATA	NM_001354618.2:c.316-28_316-27insATATGTA
MLH1 transcript variant 12	NM_001354619.2:c.316-27=	NM_001354619.2:c.316-28_316-27insA	NM_001354619.2:c.316-28_316-27insATA	NM_001354619.2:c.316-28_316-27insATATA	NM_001354619.2:c.316-28_316-27insATATATA	NM_001354619.2:c.316-28_316-27insATATATATA	NM_001354619.2:c.316-28_316-27insATATATATATA	NM_001354619.2:c.316-28_316-27insATATATATATATA	NM_001354619.2:c.316-28_316-27insATATATATATATATATATA	NM_001354619.2:c.316-28_316-27insATATATATATATATATATATATA	NM_001354619.2:c.316-28_316-27insATATGTA
MLH1 transcript variant 13	NM_001354620.2:c.745-27=	NM_001354620.2:c.745-28_745-27insA	NM_001354620.2:c.745-28_745-27insATA	NM_001354620.2:c.745-28_745-27insATATA	NM_001354620.2:c.745-28_745-27insATATATA	NM_001354620.2:c.745-28_745-27insATATATATA	NM_001354620.2:c.745-28_745-27insATATATATATA	NM_001354620.2:c.745-28_745-27insATATATATATATA	NM_001354620.2:c.745-28_745-27insATATATATATATATATATA	NM_001354620.2:c.745-28_745-27insATATATATATATATATATATATA	NM_001354620.2:c.745-28_745-27insATATGTA
MLH1 transcript variant 14	NM_001354621.2:c.16-27=	NM_001354621.2:c.16-28_16-27insA	NM_001354621.2:c.16-28_16-27insATA	NM_001354621.2:c.16-28_16-27insATATA	NM_001354621.2:c.16-28_16-27insATATATA	NM_001354621.2:c.16-28_16-27insATATATATA	NM_001354621.2:c.16-28_16-27insATATATATATA	NM_001354621.2:c.16-28_16-27insATATATATATATA	NM_001354621.2:c.16-28_16-27insATATATATATATATATATA	NM_001354621.2:c.16-28_16-27insATATATATATATATATATATATA	NM_001354621.2:c.16-28_16-27insATATGTA
MLH1 transcript variant 15	NM_001354622.2:c.16-27=	NM_001354622.2:c.16-28_16-27insA	NM_001354622.2:c.16-28_16-27insATA	NM_001354622.2:c.16-28_16-27insATATA	NM_001354622.2:c.16-28_16-27insATATATA	NM_001354622.2:c.16-28_16-27insATATATATA	NM_001354622.2:c.16-28_16-27insATATATATATA	NM_001354622.2:c.16-28_16-27insATATATATATATA	NM_001354622.2:c.16-28_16-27insATATATATATATATATATA	NM_001354622.2:c.16-28_16-27insATATATATATATATATATATATA	NM_001354622.2:c.16-28_16-27insATATGTA
MLH1 transcript variant 16	NM_001354623.2:c.16-27=	NM_001354623.2:c.16-28_16-27insA	NM_001354623.2:c.16-28_16-27insATA	NM_001354623.2:c.16-28_16-27insATATA	NM_001354623.2:c.16-28_16-27insATATATA	NM_001354623.2:c.16-28_16-27insATATATATA	NM_001354623.2:c.16-28_16-27insATATATATATA	NM_001354623.2:c.16-28_16-27insATATATATATATA	NM_001354623.2:c.16-28_16-27insATATATATATATATATATA	NM_001354623.2:c.16-28_16-27insATATATATATATATATATATATA	NM_001354623.2:c.16-28_16-27insATATGTA
MLH1 transcript variant 17	NM_001354624.2:c.-36-27=	NM_001354624.2:c.-36-28_-36-27insA	NM_001354624.2:c.-36-28_-36-27insATA	NM_001354624.2:c.-36-28_-36-27insATATA	NM_001354624.2:c.-36-28_-36-27insATATATA	NM_001354624.2:c.-36-28_-36-27insATATATATA	NM_001354624.2:c.-36-28_-36-27insATATATATATA	NM_001354624.2:c.-36-28_-36-27insATATATATATATA	NM_001354624.2:c.-36-28_-36-27insATATATATATATATATATA	NM_001354624.2:c.-36-28_-36-27insATATATATATATATATATATATA	NM_001354624.2:c.-36-28_-36-27insATATGTA
MLH1 transcript variant 18	NM_001354625.2:c.-36-27=	NM_001354625.2:c.-36-28_-36-27insA	NM_001354625.2:c.-36-28_-36-27insATA	NM_001354625.2:c.-36-28_-36-27insATATA	NM_001354625.2:c.-36-28_-36-27insATATATA	NM_001354625.2:c.-36-28_-36-27insATATATATA	NM_001354625.2:c.-36-28_-36-27insATATATATATA	NM_001354625.2:c.-36-28_-36-27insATATATATATATA	NM_001354625.2:c.-36-28_-36-27insATATATATATATATATATA	NM_001354625.2:c.-36-28_-36-27insATATATATATATATATATATATA	NM_001354625.2:c.-36-28_-36-27insATATGTA
MLH1 transcript variant 19	NM_001354626.2:c.-36-27=	NM_001354626.2:c.-36-28_-36-27insA	NM_001354626.2:c.-36-28_-36-27insATA	NM_001354626.2:c.-36-28_-36-27insATATA	NM_001354626.2:c.-36-28_-36-27insATATATA	NM_001354626.2:c.-36-28_-36-27insATATATATA	NM_001354626.2:c.-36-28_-36-27insATATATATATA	NM_001354626.2:c.-36-28_-36-27insATATATATATATA	NM_001354626.2:c.-36-28_-36-27insATATATATATATATATATA	NM_001354626.2:c.-36-28_-36-27insATATATATATATATATATATATA	NM_001354626.2:c.-36-28_-36-27insATATGTA
MLH1 transcript variant 20	NM_001354627.2:c.-36-27=	NM_001354627.2:c.-36-28_-36-27insA	NM_001354627.2:c.-36-28_-36-27insATA	NM_001354627.2:c.-36-28_-36-27insATATA	NM_001354627.2:c.-36-28_-36-27insATATATA	NM_001354627.2:c.-36-28_-36-27insATATATATA	NM_001354627.2:c.-36-28_-36-27insATATATATATA	NM_001354627.2:c.-36-28_-36-27insATATATATATATA	NM_001354627.2:c.-36-28_-36-27insATATATATATATATATATA	NM_001354627.2:c.-36-28_-36-27insATATATATATATATATATATATA	NM_001354627.2:c.-36-28_-36-27insATATGTA
MLH1 transcript variant 21	NM_001354628.2:c.1039-27=	NM_001354628.2:c.1039-28_1039-27insA	NM_001354628.2:c.1039-28_1039-27insATA	NM_001354628.2:c.1039-28_1039-27insATATA	NM_001354628.2:c.1039-28_1039-27insATATATA	NM_001354628.2:c.1039-28_1039-27insATATATATA	NM_001354628.2:c.1039-28_1039-27insATATATATATA	NM_001354628.2:c.1039-28_1039-27insATATATATATATA	NM_001354628.2:c.1039-28_1039-27insATATATATATATATATATA	NM_001354628.2:c.1039-28_1039-27insATATATATATATATATATATATA	NM_001354628.2:c.1039-28_1039-27insATATGTA
MLH1 transcript variant 22	NM_001354629.2:c.940-27=	NM_001354629.2:c.940-28_940-27insA	NM_001354629.2:c.940-28_940-27insATA	NM_001354629.2:c.940-28_940-27insATATA	NM_001354629.2:c.940-28_940-27insATATATA	NM_001354629.2:c.940-28_940-27insATATATATA	NM_001354629.2:c.940-28_940-27insATATATATATA	NM_001354629.2:c.940-28_940-27insATATATATATATA	NM_001354629.2:c.940-28_940-27insATATATATATATATATATA	NM_001354629.2:c.940-28_940-27insATATATATATATATATATATATA	NM_001354629.2:c.940-28_940-27insATATGTA
MLH1 transcript variant 23	NM_001354630.2:c.1039-27=	NM_001354630.2:c.1039-28_1039-27insA	NM_001354630.2:c.1039-28_1039-27insATA	NM_001354630.2:c.1039-28_1039-27insATATA	NM_001354630.2:c.1039-28_1039-27insATATATA	NM_001354630.2:c.1039-28_1039-27insATATATATA	NM_001354630.2:c.1039-28_1039-27insATATATATATA	NM_001354630.2:c.1039-28_1039-27insATATATATATATA	NM_001354630.2:c.1039-28_1039-27insATATATATATATATATATA	NM_001354630.2:c.1039-28_1039-27insATATATATATATATATATATATA	NM_001354630.2:c.1039-28_1039-27insATATGTA
MLH1 transcript variant X1	XM_005265161.1:c.832-27=	XM_005265161.1:c.832-28_832-27insA	XM_005265161.1:c.832-28_832-27insATA	XM_005265161.1:c.832-28_832-27insATATA	XM_005265161.1:c.832-28_832-27insATATATA	XM_005265161.1:c.832-28_832-27insATATATATA	XM_005265161.1:c.832-28_832-27insATATATATATA	XM_005265161.1:c.832-28_832-27insATATATATATATA	XM_005265161.1:c.832-28_832-27insATATATATATATATATATA	XM_005265161.1:c.832-28_832-27insATATATATATATATATATATATA	XM_005265161.1:c.832-28_832-27insATATGTA
MLH1 transcript variant X2	XM_005265161.3:c.832-27=	XM_005265161.3:c.832-28_832-27insA	XM_005265161.3:c.832-28_832-27insATA	XM_005265161.3:c.832-28_832-27insATATA	XM_005265161.3:c.832-28_832-27insATATATA	XM_005265161.3:c.832-28_832-27insATATATATA	XM_005265161.3:c.832-28_832-27insATATATATATA	XM_005265161.3:c.832-28_832-27insATATATATATATA	XM_005265161.3:c.832-28_832-27insATATATATATATATATATA	XM_005265161.3:c.832-28_832-27insATATATATATATATATATATATA	XM_005265161.3:c.832-28_832-27insATATGTA
MLH1 transcript variant X2	XM_005265162.1:c.745-27=	XM_005265162.1:c.745-28_745-27insA	XM_005265162.1:c.745-28_745-27insATA	XM_005265162.1:c.745-28_745-27insATATA	XM_005265162.1:c.745-28_745-27insATATATA	XM_005265162.1:c.745-28_745-27insATATATATA	XM_005265162.1:c.745-28_745-27insATATATATATA	XM_005265162.1:c.745-28_745-27insATATATATATATA	XM_005265162.1:c.745-28_745-27insATATATATATATATATATA	XM_005265162.1:c.745-28_745-27insATATATATATATATATATATATA	XM_005265162.1:c.745-28_745-27insATATGTA
MLH1 transcript variant X2	XM_005265163.1:c.316-27=	XM_005265163.1:c.316-28_316-27insA	XM_005265163.1:c.316-28_316-27insATA	XM_005265163.1:c.316-28_316-27insATATA	XM_005265163.1:c.316-28_316-27insATATATA	XM_005265163.1:c.316-28_316-27insATATATATA	XM_005265163.1:c.316-28_316-27insATATATATATA	XM_005265163.1:c.316-28_316-27insATATATATATATA	XM_005265163.1:c.316-28_316-27insATATATATATATATATATA	XM_005265163.1:c.316-28_316-27insATATATATATATATATATATATA	XM_005265163.1:c.316-28_316-27insATATGTA
MLH1 transcript variant X3	XM_005265164.1:c.316-27=	XM_005265164.1:c.316-28_316-27insA	XM_005265164.1:c.316-28_316-27insATA	XM_005265164.1:c.316-28_316-27insATATA	XM_005265164.1:c.316-28_316-27insATATATA	XM_005265164.1:c.316-28_316-27insATATATATA	XM_005265164.1:c.316-28_316-27insATATATATATA	XM_005265164.1:c.316-28_316-27insATATATATATATA	XM_005265164.1:c.316-28_316-27insATATATATATATATATATA	XM_005265164.1:c.316-28_316-27insATATATATATATATATATATATA	XM_005265164.1:c.316-28_316-27insATATGTA
MLH1 transcript variant X5	XM_005265165.1:c.316-27=	XM_005265165.1:c.316-28_316-27insA	XM_005265165.1:c.316-28_316-27insATA	XM_005265165.1:c.316-28_316-27insATATA	XM_005265165.1:c.316-28_316-27insATATATA	XM_005265165.1:c.316-28_316-27insATATATATA	XM_005265165.1:c.316-28_316-27insATATATATATA	XM_005265165.1:c.316-28_316-27insATATATATATATA	XM_005265165.1:c.316-28_316-27insATATATATATATATATATA	XM_005265165.1:c.316-28_316-27insATATATATATATATATATATATA	XM_005265165.1:c.316-28_316-27insATATGTA
MLH1 transcript variant X4	XM_005265166.1:c.16-27=	XM_005265166.1:c.16-28_16-27insA	XM_005265166.1:c.16-28_16-27insATA	XM_005265166.1:c.16-28_16-27insATATA	XM_005265166.1:c.16-28_16-27insATATATA	XM_005265166.1:c.16-28_16-27insATATATATA	XM_005265166.1:c.16-28_16-27insATATATATATA	XM_005265166.1:c.16-28_16-27insATATATATATATA	XM_005265166.1:c.16-28_16-27insATATATATATATATATATA	XM_005265166.1:c.16-28_16-27insATATATATATATATATATATATA	XM_005265166.1:c.16-28_16-27insATATGTA
MLH1 transcript variant X1	XM_047448152.1:c.940-27=	XM_047448152.1:c.940-28_940-27insA	XM_047448152.1:c.940-28_940-27insATA	XM_047448152.1:c.940-28_940-27insATATA	XM_047448152.1:c.940-28_940-27insATATATA	XM_047448152.1:c.940-28_940-27insATATATATA	XM_047448152.1:c.940-28_940-27insATATATATATA	XM_047448152.1:c.940-28_940-27insATATATATATATA	XM_047448152.1:c.940-28_940-27insATATATATATATATATATA	XM_047448152.1:c.940-28_940-27insATATATATATATATATATATATA	XM_047448152.1:c.940-28_940-27insATATGTA
MLH1 transcript variant X3	XM_047448153.1:c.316-27=	XM_047448153.1:c.316-28_316-27insA	XM_047448153.1:c.316-28_316-27insATA	XM_047448153.1:c.316-28_316-27insATATA	XM_047448153.1:c.316-28_316-27insATATATA	XM_047448153.1:c.316-28_316-27insATATATATA	XM_047448153.1:c.316-28_316-27insATATATATATA	XM_047448153.1:c.316-28_316-27insATATATATATATA	XM_047448153.1:c.316-28_316-27insATATATATATATATATATA	XM_047448153.1:c.316-28_316-27insATATATATATATATATATATATA	XM_047448153.1:c.316-28_316-27insATATGTA
MLH1 transcript variant X4	XM_047448154.1:c.316-27=	XM_047448154.1:c.316-28_316-27insA	XM_047448154.1:c.316-28_316-27insATA	XM_047448154.1:c.316-28_316-27insATATA	XM_047448154.1:c.316-28_316-27insATATATA	XM_047448154.1:c.316-28_316-27insATATATATA	XM_047448154.1:c.316-28_316-27insATATATATATA	XM_047448154.1:c.316-28_316-27insATATATATATATA	XM_047448154.1:c.316-28_316-27insATATATATATATATATATA	XM_047448154.1:c.316-28_316-27insATATATATATATATATATATATA	XM_047448154.1:c.316-28_316-27insATATGTA
MLH1 transcript variant X5	XM_047448155.1:c.316-27=	XM_047448155.1:c.316-28_316-27insA	XM_047448155.1:c.316-28_316-27insATA	XM_047448155.1:c.316-28_316-27insATATA	XM_047448155.1:c.316-28_316-27insATATATA	XM_047448155.1:c.316-28_316-27insATATATATA	XM_047448155.1:c.316-28_316-27insATATATATATA	XM_047448155.1:c.316-28_316-27insATATATATATATA	XM_047448155.1:c.316-28_316-27insATATATATATATATATATA	XM_047448155.1:c.316-28_316-27insATATATATATATATATATATATA	XM_047448155.1:c.316-28_316-27insATATGTA

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#.

16 SubSNP, 14 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80329738	Oct 12, 2018 (152)
2	KOGIC	ss3951030123	Apr 25, 2020 (154)
3	GNOMAD	ss4069134092	Apr 27, 2021 (155)
4	GNOMAD	ss4069134093	Apr 27, 2021 (155)
5	GNOMAD	ss4069134094	Apr 27, 2021 (155)
6	GNOMAD	ss4069134095	Apr 27, 2021 (155)
7	GNOMAD	ss4069134096	Apr 27, 2021 (155)
8	GNOMAD	ss4069134097	Apr 27, 2021 (155)
9	GNOMAD	ss4069134098	Apr 27, 2021 (155)
10	TOPMED	ss4560824817	Apr 27, 2021 (155)
11	TOMMO_GENOMICS	ss5158655059	Apr 27, 2021 (155)
12	TOMMO_GENOMICS	ss5158655060	Apr 27, 2021 (155)
13	SANFORD_IMAGENETICS	ss5631928003	Oct 13, 2022 (156)
14	TOMMO_GENOMICS	ss5690161414	Oct 13, 2022 (156)
15	TOMMO_GENOMICS	ss5690161415	Oct 13, 2022 (156)
16	YY_MCH	ss5803649550	Oct 13, 2022 (156)
17	gnomAD - Genomes Submission ignored due to conflicting rows: Row 104562882 (NC_000003.12:37025609::A 447/31520) Row 104562883 (NC_000003.12:37025609::ATA 526/31422) Row 104562884 (NC_000003.12:37025609::ATATA 45/31700)...	-	Apr 27, 2021 (155)
18	gnomAD - Genomes Submission ignored due to conflicting rows: Row 104562882 (NC_000003.12:37025609::A 447/31520) Row 104562883 (NC_000003.12:37025609::ATA 526/31422) Row 104562884 (NC_000003.12:37025609::ATATA 45/31700)...	-	Apr 27, 2021 (155)
19	gnomAD - Genomes Submission ignored due to conflicting rows: Row 104562882 (NC_000003.12:37025609::A 447/31520) Row 104562883 (NC_000003.12:37025609::ATA 526/31422) Row 104562884 (NC_000003.12:37025609::ATATA 45/31700)...	-	Apr 27, 2021 (155)
20	gnomAD - Genomes Submission ignored due to conflicting rows: Row 104562882 (NC_000003.12:37025609::A 447/31520) Row 104562883 (NC_000003.12:37025609::ATA 526/31422) Row 104562884 (NC_000003.12:37025609::ATATA 45/31700)...	-	Apr 27, 2021 (155)
21	gnomAD - Genomes Submission ignored due to conflicting rows: Row 104562882 (NC_000003.12:37025609::A 447/31520) Row 104562883 (NC_000003.12:37025609::ATA 526/31422) Row 104562884 (NC_000003.12:37025609::ATATA 45/31700)...	-	Apr 27, 2021 (155)
22	gnomAD - Genomes Submission ignored due to conflicting rows: Row 104562882 (NC_000003.12:37025609::A 447/31520) Row 104562883 (NC_000003.12:37025609::ATA 526/31422) Row 104562884 (NC_000003.12:37025609::ATATA 45/31700)...	-	Apr 27, 2021 (155)
23	gnomAD - Genomes Submission ignored due to conflicting rows: Row 104562882 (NC_000003.12:37025609::A 447/31520) Row 104562883 (NC_000003.12:37025609::ATA 526/31422) Row 104562884 (NC_000003.12:37025609::ATATA 45/31700)...	-	Apr 27, 2021 (155)
24	Korean Genome Project	NC_000003.12 - 37025610	Apr 25, 2020 (154)
25	8.3KJPN Submission ignored due to conflicting rows: Row 16624366 (NC_000003.11:37067100::A 76/15370) Row 16624367 (NC_000003.11:37067100::ATA 4/15370)	-	Apr 27, 2021 (155)
26	8.3KJPN Submission ignored due to conflicting rows: Row 16624366 (NC_000003.11:37067100::A 76/15370) Row 16624367 (NC_000003.11:37067100::ATA 4/15370)	-	Apr 27, 2021 (155)
27	14KJPN Submission ignored due to conflicting rows: Row 23998518 (NC_000003.12:37025609::A 82/27866) Row 23998519 (NC_000003.12:37025609::ATA 9/27866)	-	Oct 13, 2022 (156)
28	14KJPN Submission ignored due to conflicting rows: Row 23998518 (NC_000003.12:37025609::A 82/27866) Row 23998519 (NC_000003.12:37025609::ATA 9/27866)	-	Oct 13, 2022 (156)
29	TopMed	NC_000003.12 - 37025610	Apr 27, 2021 (155)
30	ALFA	NC_000003.12 - 37025610	Apr 27, 2021 (155)
31	ClinVar	RCV001184986.1	Apr 27, 2021 (155)
32	ClinVar	RCV001191626.1	Apr 27, 2021 (155)
33	ClinVar	RCV002268441.2	Oct 13, 2022 (156)

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
ss5158655059	NC_000003.11:37067100::A	NC_000003.12:37025609::A	(self)
RCV001184986.1, RCV002268441.2, 7408124, 371796232, ss3951030123, ss4069134092, ss5690161414, ss5803649550	NC_000003.12:37025609::A	NC_000003.12:37025609::A	(self)
ss5158655060, ss5631928003	NC_000003.11:37067100::ATA	NC_000003.12:37025609::ATA	(self)
RCV001191626.1, 371796232, ss4069134093, ss5690161415	NC_000003.12:37025609::ATA	NC_000003.12:37025609::ATA	(self)
371796232, ss4069134094	NC_000003.12:37025609::ATATA	NC_000003.12:37025609::ATATA	(self)
ss80329738	NT_022517.18:37007100::ATATA	NC_000003.12:37025609::ATATA	(self)
371796232, ss4069134095	NC_000003.12:37025609::ATATATA	NC_000003.12:37025609::ATATATA	(self)
371796232, ss4069134096	NC_000003.12:37025609::ATATATATA	NC_000003.12:37025609::ATATATATA	(self)
371796232	NC_000003.12:37025609::ATATATATATA	NC_000003.12:37025609::ATATATATATA	(self)
371796232	NC_000003.12:37025609::ATATATATATA… NC_000003.12:37025609::ATATATATATATA	NC_000003.12:37025609::ATATATATATA… NC_000003.12:37025609::ATATATATATATA	(self)
ss4069134097	NC_000003.12:37025609::ATATATATATA… NC_000003.12:37025609::ATATATATATATATATATA	NC_000003.12:37025609::ATATATATATA… NC_000003.12:37025609::ATATATATATATATATATA	(self)
ss4069134098	NC_000003.12:37025609::ATATATATATA… NC_000003.12:37025609::ATATATATATATATATATATATA	NC_000003.12:37025609::ATATATATATA… NC_000003.12:37025609::ATATATATATATATATATATATA	(self)
398202372, 371796232, ss4560824817	NC_000003.12:37025609::ATATGTA	NC_000003.12:37025609::ATATGTA	(self)

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

No publications for rs1491447529

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491447529