Name: rs370866476
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.

rs370866476

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:71667447 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.000121 (32/264690, TOPMED)
G=0.000086 (12/140248, GnomAD)
G=0.00007 (1/14050, ALFA) (+ 3 more)
G=0.00008 (1/13006, GO-ESP)
G=0.0002 (1/6404, 1000G_30x)
G=0.0002 (1/5008, 1000G)

Clinical Significance: Reported in ClinVar
Gene : Consequence: DYSF : Stop Gained
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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	14050	C=0.99993	G=0.00007
European	Sub	9690	C=1.0000	G=0.0000
African	Sub	2898	C=0.9997	G=0.0003
African Others	Sub	114	C=1.000	G=0.000
African American	Sub	2784	C=0.9996	G=0.0004
Asian	Sub	112	C=1.000	G=0.000
East Asian	Sub	86	C=1.00	G=0.00
Other Asian	Sub	26	C=1.00	G=0.00
Latin American 1	Sub	146	C=1.000	G=0.000
Latin American 2	Sub	610	C=1.000	G=0.000
South Asian	Sub	98	C=1.00	G=0.00
Other	Sub	496	C=1.000	G=0.000

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=0.999879	G=0.000121
gnomAD - Genomes	Global	Study-wide	140248	C=0.999914	G=0.000086
gnomAD - Genomes	European	Sub	75952	C=1.00000	G=0.00000
gnomAD - Genomes	African	Sub	42030	C=0.99974	G=0.00026
gnomAD - Genomes	American	Sub	13658	C=1.00000	G=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=1.0000	G=0.0000
gnomAD - Genomes	East Asian	Sub	3134	C=1.0000	G=0.0000
gnomAD - Genomes	Other	Sub	2150	C=0.9995	G=0.0005
Allele Frequency Aggregator	Total	Global	14050	C=0.99993	G=0.00007
Allele Frequency Aggregator	European	Sub	9690	C=1.0000	G=0.0000
Allele Frequency Aggregator	African	Sub	2898	C=0.9997	G=0.0003
Allele Frequency Aggregator	Latin American 2	Sub	610	C=1.000	G=0.000
Allele Frequency Aggregator	Other	Sub	496	C=1.000	G=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=1.000	G=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	G=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	G=0.00
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.99992	G=0.00008
GO Exome Sequencing Project	European American	Sub	8600	C=1.0000	G=0.0000
GO Exome Sequencing Project	African American	Sub	4406	C=0.9998	G=0.0002
1000Genomes_30x	Global	Study-wide	6404	C=0.9998	G=0.0002
1000Genomes_30x	African	Sub	1786	C=0.9994	G=0.0006
1000Genomes_30x	Europe	Sub	1266	C=1.0000	G=0.0000
1000Genomes_30x	South Asian	Sub	1202	C=1.0000	G=0.0000
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	G=0.0000
1000Genomes_30x	American	Sub	980	C=1.000	G=0.000
1000Genomes	Global	Study-wide	5008	C=0.9998	G=0.0002
1000Genomes	African	Sub	1322	C=0.9992	G=0.0008
1000Genomes	East Asian	Sub	1008	C=1.0000	G=0.0000
1000Genomes	Europe	Sub	1006	C=1.0000	G=0.0000
1000Genomes	South Asian	Sub	978	C=1.000	G=0.000
1000Genomes	American	Sub	694	C=1.000	G=0.000

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 2	NC_000002.12:g.71667447C>G
GRCh38.p14 chr 2	NC_000002.12:g.71667447C>T
GRCh37.p13 chr 2	NC_000002.11:g.71894577C>G
GRCh37.p13 chr 2	NC_000002.11:g.71894577C>T
DYSF RefSeqGene (LRG_845)	NG_008694.1:g.218825C>G
DYSF RefSeqGene (LRG_845)	NG_008694.1:g.218825C>T

Gene: DYSF, dysferlin (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DYSF transcript variant 1	NM_001130987.2:c.5389C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 1	NP_001124459.1:p.Gln1797G… NP_001124459.1:p.Gln1797Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 1	NM_001130987.2:c.5389C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 1	NP_001124459.1:p.Gln1797T… NP_001124459.1:p.Gln1797Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 14	NM_001130981.2:c.5386C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 14	NP_001124453.1:p.Gln1796G… NP_001124453.1:p.Gln1796Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 14	NM_001130981.2:c.5386C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 14	NP_001124453.1:p.Gln1796T… NP_001124453.1:p.Gln1796Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 11	NM_001130978.2:c.5335C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 11	NP_001124450.1:p.Gln1779G… NP_001124450.1:p.Gln1779Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 11	NM_001130978.2:c.5335C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 11	NP_001124450.1:p.Gln1779T… NP_001124450.1:p.Gln1779Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 6	NM_001130983.2:c.5338C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 6	NP_001124455.1:p.Gln1780G… NP_001124455.1:p.Gln1780Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 6	NM_001130983.2:c.5338C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 6	NP_001124455.1:p.Gln1780T… NP_001124455.1:p.Gln1780Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 8	NM_003494.4:c.5272C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 8	NP_003485.1:p.Gln1758Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 8	NM_003494.4:c.5272C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 8	NP_003485.1:p.Gln1758Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 2	NM_001130455.2:c.5275C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 2	NP_001123927.1:p.Gln1759G… NP_001123927.1:p.Gln1759Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 2	NM_001130455.2:c.5275C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 2	NP_001123927.1:p.Gln1759T… NP_001123927.1:p.Gln1759Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 13	NM_001130980.2:c.5323C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 13	NP_001124452.1:p.Gln1775G… NP_001124452.1:p.Gln1775Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 13	NM_001130980.2:c.5323C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 13	NP_001124452.1:p.Gln1775T… NP_001124452.1:p.Gln1775Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 5	NM_001130984.2:c.5296C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 5	NP_001124456.1:p.Gln1766G… NP_001124456.1:p.Gln1766Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 5	NM_001130984.2:c.5296C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 5	NP_001124456.1:p.Gln1766T… NP_001124456.1:p.Gln1766Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 4	NM_001130985.2:c.5326C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 4	NP_001124457.1:p.Gln1776G… NP_001124457.1:p.Gln1776Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 4	NM_001130985.2:c.5326C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 4	NP_001124457.1:p.Gln1776T… NP_001124457.1:p.Gln1776Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 10	NM_001130977.2:c.5293C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 10	NP_001124449.1:p.Gln1765G… NP_001124449.1:p.Gln1765Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 10	NM_001130977.2:c.5293C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 10	NP_001124449.1:p.Gln1765T… NP_001124449.1:p.Gln1765Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 3	NM_001130986.2:c.5233C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 3	NP_001124458.1:p.Gln1745G… NP_001124458.1:p.Gln1745Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 3	NM_001130986.2:c.5233C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 3	NP_001124458.1:p.Gln1745T… NP_001124458.1:p.Gln1745Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 7	NM_001130982.2:c.5368C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 7	NP_001124454.1:p.Gln1790G… NP_001124454.1:p.Gln1790Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 7	NM_001130982.2:c.5368C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 7	NP_001124454.1:p.Gln1790T… NP_001124454.1:p.Gln1790Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 9	NM_001130976.2:c.5230C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 9	NP_001124448.1:p.Gln1744G… NP_001124448.1:p.Gln1744Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 9	NM_001130976.2:c.5230C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 9	NP_001124448.1:p.Gln1744T… NP_001124448.1:p.Gln1744Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant 12	NM_001130979.2:c.5365C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform 12	NP_001124451.1:p.Gln1789G… NP_001124451.1:p.Gln1789Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant 12	NM_001130979.2:c.5365C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform 12	NP_001124451.1:p.Gln1789T… NP_001124451.1:p.Gln1789Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant X1	XM_005264584.5:c.5431C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform X1	XP_005264641.1:p.Gln1811G… XP_005264641.1:p.Gln1811Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant X1	XM_005264584.5:c.5431C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform X1	XP_005264641.1:p.Gln1811T… XP_005264641.1:p.Gln1811Ter	Q (Gln) > * (Ter)	Stop Gained
DYSF transcript variant X2	XM_005264585.6:c.5428C>G	Q [CAG] > E [GAG]	Coding Sequence Variant
dysferlin isoform X2	XP_005264642.1:p.Gln1810G… XP_005264642.1:p.Gln1810Glu	Q (Gln) > E (Glu)	Missense Variant
DYSF transcript variant X2	XM_005264585.6:c.5428C>T	Q [CAG] > * [TAG]	Coding Sequence Variant
dysferlin isoform X2	XP_005264642.1:p.Gln1810T… XP_005264642.1:p.Gln1810Ter	Q (Gln) > * (Ter)	Stop Gained

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: G (allele ID: 194727 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000178627.3	not provided	Uncertain-Significance
RCV000813699.4	Qualitative or quantitative defects of dysferlin	Uncertain-Significance
RCV001826908.1	Autosomal recessive limb-girdle muscular dystrophy type 2B	Uncertain-Significance

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=	G	T
GRCh38.p14 chr 2	NC_000002.12:g.71667447=	NC_000002.12:g.71667447C>G	NC_000002.12:g.71667447C>T
GRCh37.p13 chr 2	NC_000002.11:g.71894577=	NC_000002.11:g.71894577C>G	NC_000002.11:g.71894577C>T
DYSF RefSeqGene (LRG_845)	NG_008694.1:g.218825=	NG_008694.1:g.218825C>G	NG_008694.1:g.218825C>T
DYSF transcript variant 8	NM_003494.4:c.5272=	NM_003494.4:c.5272C>G	NM_003494.4:c.5272C>T
DYSF transcript variant 8	NM_003494.3:c.5272=	NM_003494.3:c.5272C>G	NM_003494.3:c.5272C>T
DYSF transcript variant 14	NM_001130981.2:c.5386=	NM_001130981.2:c.5386C>G	NM_001130981.2:c.5386C>T
DYSF transcript variant 14	NM_001130981.1:c.5386=	NM_001130981.1:c.5386C>G	NM_001130981.1:c.5386C>T
DYSF transcript variant 12	NM_001130979.2:c.5365=	NM_001130979.2:c.5365C>G	NM_001130979.2:c.5365C>T
DYSF transcript variant 12	NM_001130979.1:c.5365=	NM_001130979.1:c.5365C>G	NM_001130979.1:c.5365C>T
DYSF transcript variant 11	NM_001130978.2:c.5335=	NM_001130978.2:c.5335C>G	NM_001130978.2:c.5335C>T
DYSF transcript variant 11	NM_001130978.1:c.5335=	NM_001130978.1:c.5335C>G	NM_001130978.1:c.5335C>T
DYSF transcript variant 13	NM_001130980.2:c.5323=	NM_001130980.2:c.5323C>G	NM_001130980.2:c.5323C>T
DYSF transcript variant 13	NM_001130980.1:c.5323=	NM_001130980.1:c.5323C>G	NM_001130980.1:c.5323C>T
DYSF transcript variant 10	NM_001130977.2:c.5293=	NM_001130977.2:c.5293C>G	NM_001130977.2:c.5293C>T
DYSF transcript variant 10	NM_001130977.1:c.5293=	NM_001130977.1:c.5293C>G	NM_001130977.1:c.5293C>T
DYSF transcript variant 9	NM_001130976.2:c.5230=	NM_001130976.2:c.5230C>G	NM_001130976.2:c.5230C>T
DYSF transcript variant 9	NM_001130976.1:c.5230=	NM_001130976.1:c.5230C>G	NM_001130976.1:c.5230C>T
DYSF transcript variant 1	NM_001130987.2:c.5389=	NM_001130987.2:c.5389C>G	NM_001130987.2:c.5389C>T
DYSF transcript variant 1	NM_001130987.1:c.5389=	NM_001130987.1:c.5389C>G	NM_001130987.1:c.5389C>T
DYSF transcript variant 7	NM_001130982.2:c.5368=	NM_001130982.2:c.5368C>G	NM_001130982.2:c.5368C>T
DYSF transcript variant 7	NM_001130982.1:c.5368=	NM_001130982.1:c.5368C>G	NM_001130982.1:c.5368C>T
DYSF transcript variant 6	NM_001130983.2:c.5338=	NM_001130983.2:c.5338C>G	NM_001130983.2:c.5338C>T
DYSF transcript variant 6	NM_001130983.1:c.5338=	NM_001130983.1:c.5338C>G	NM_001130983.1:c.5338C>T
DYSF transcript variant 4	NM_001130985.2:c.5326=	NM_001130985.2:c.5326C>G	NM_001130985.2:c.5326C>T
DYSF transcript variant 4	NM_001130985.1:c.5326=	NM_001130985.1:c.5326C>G	NM_001130985.1:c.5326C>T
DYSF transcript variant 5	NM_001130984.2:c.5296=	NM_001130984.2:c.5296C>G	NM_001130984.2:c.5296C>T
DYSF transcript variant 5	NM_001130984.1:c.5296=	NM_001130984.1:c.5296C>G	NM_001130984.1:c.5296C>T
DYSF transcript variant 2	NM_001130455.2:c.5275=	NM_001130455.2:c.5275C>G	NM_001130455.2:c.5275C>T
DYSF transcript variant 2	NM_001130455.1:c.5275=	NM_001130455.1:c.5275C>G	NM_001130455.1:c.5275C>T
DYSF transcript variant 3	NM_001130986.2:c.5233=	NM_001130986.2:c.5233C>G	NM_001130986.2:c.5233C>T
DYSF transcript variant 3	NM_001130986.1:c.5233=	NM_001130986.1:c.5233C>G	NM_001130986.1:c.5233C>T
DYSF transcript variant X2	XM_005264585.6:c.5428=	XM_005264585.6:c.5428C>G	XM_005264585.6:c.5428C>T
DYSF transcript variant X2	XM_005264585.5:c.5428=	XM_005264585.5:c.5428C>G	XM_005264585.5:c.5428C>T
DYSF transcript variant X2	XM_005264585.4:c.5428=	XM_005264585.4:c.5428C>G	XM_005264585.4:c.5428C>T
DYSF transcript variant X2	XM_005264585.3:c.5428=	XM_005264585.3:c.5428C>G	XM_005264585.3:c.5428C>T
DYSF transcript variant X2	XM_005264585.2:c.5428=	XM_005264585.2:c.5428C>G	XM_005264585.2:c.5428C>T
DYSF transcript variant X2	XM_005264585.1:c.5428=	XM_005264585.1:c.5428C>G	XM_005264585.1:c.5428C>T
DYSF transcript variant X1	XM_005264584.5:c.5431=	XM_005264584.5:c.5431C>G	XM_005264584.5:c.5431C>T
DYSF transcript variant X1	XM_005264584.4:c.5431=	XM_005264584.4:c.5431C>G	XM_005264584.4:c.5431C>T
DYSF transcript variant X1	XM_005264584.3:c.5431=	XM_005264584.3:c.5431C>G	XM_005264584.3:c.5431C>T
DYSF transcript variant X1	XM_005264584.2:c.5431=	XM_005264584.2:c.5431C>G	XM_005264584.2:c.5431C>T
DYSF transcript variant X1	XM_005264584.1:c.5431=	XM_005264584.1:c.5431C>G	XM_005264584.1:c.5431C>T
dysferlin isoform 8	NP_003485.1:p.Gln1758=	NP_003485.1:p.Gln1758Glu	NP_003485.1:p.Gln1758Ter
dysferlin isoform 14	NP_001124453.1:p.Gln1796=	NP_001124453.1:p.Gln1796Glu	NP_001124453.1:p.Gln1796Ter
dysferlin isoform 12	NP_001124451.1:p.Gln1789=	NP_001124451.1:p.Gln1789Glu	NP_001124451.1:p.Gln1789Ter
dysferlin isoform 11	NP_001124450.1:p.Gln1779=	NP_001124450.1:p.Gln1779Glu	NP_001124450.1:p.Gln1779Ter
dysferlin isoform 13	NP_001124452.1:p.Gln1775=	NP_001124452.1:p.Gln1775Glu	NP_001124452.1:p.Gln1775Ter
dysferlin isoform 10	NP_001124449.1:p.Gln1765=	NP_001124449.1:p.Gln1765Glu	NP_001124449.1:p.Gln1765Ter
dysferlin isoform 9	NP_001124448.1:p.Gln1744=	NP_001124448.1:p.Gln1744Glu	NP_001124448.1:p.Gln1744Ter
dysferlin isoform 1	NP_001124459.1:p.Gln1797=	NP_001124459.1:p.Gln1797Glu	NP_001124459.1:p.Gln1797Ter
dysferlin isoform 7	NP_001124454.1:p.Gln1790=	NP_001124454.1:p.Gln1790Glu	NP_001124454.1:p.Gln1790Ter
dysferlin isoform 6	NP_001124455.1:p.Gln1780=	NP_001124455.1:p.Gln1780Glu	NP_001124455.1:p.Gln1780Ter
dysferlin isoform 4	NP_001124457.1:p.Gln1776=	NP_001124457.1:p.Gln1776Glu	NP_001124457.1:p.Gln1776Ter
dysferlin isoform 5	NP_001124456.1:p.Gln1766=	NP_001124456.1:p.Gln1766Glu	NP_001124456.1:p.Gln1766Ter
dysferlin isoform 2	NP_001123927.1:p.Gln1759=	NP_001123927.1:p.Gln1759Glu	NP_001123927.1:p.Gln1759Ter
dysferlin isoform 3	NP_001124458.1:p.Gln1745=	NP_001124458.1:p.Gln1745Glu	NP_001124458.1:p.Gln1745Ter
dysferlin isoform X2	XP_005264642.1:p.Gln1810=	XP_005264642.1:p.Gln1810Glu	XP_005264642.1:p.Gln1810Ter
dysferlin isoform X1	XP_005264641.1:p.Gln1811=	XP_005264641.1:p.Gln1811Glu	XP_005264641.1:p.Gln1811Ter

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#.

13 SubSNP, 10 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	NHLBI-ESP	ss712420938	Apr 25, 2013 (138)
2	1000GENOMES	ss1297797234	Aug 21, 2014 (142)
3	EVA_EXAC	ss1686355341	Apr 01, 2015 (144)
4	EVA_EXAC	ss1686355342	Apr 01, 2015 (144)
5	HUMAN_LONGEVITY	ss2231468681	Dec 20, 2016 (150)
6	GNOMAD	ss2732738834	Nov 08, 2017 (151)
7	GNOMAD	ss2746702233	Nov 08, 2017 (151)
8	GNOMAD	ss2775073924	Nov 08, 2017 (151)
9	EVA	ss3823779535	Apr 25, 2020 (154)
10	TOPMED	ss4510645952	Apr 27, 2021 (155)
11	EVA	ss5329811387	Oct 17, 2022 (156)
12	1000G_HIGH_COVERAGE	ss5524010049	Oct 17, 2022 (156)
13	EVA	ss5930921559	Oct 17, 2022 (156)
14	1000Genomes	NC_000002.11 - 71894577	Oct 11, 2018 (152)
15	1000Genomes_30x	NC_000002.12 - 71667447	Oct 17, 2022 (156)
16	ExAC Submission ignored due to conflicting rows: Row 6229812 (NC_000002.11:71894576:C:C 120680/120684, NC_000002.11:71894576:C:G 4/120684) Row 6229813 (NC_000002.11:71894576:C:C 120682/120684, NC_000002.11:71894576:C:T 2/120684)	-	Oct 11, 2018 (152)
17	ExAC Submission ignored due to conflicting rows: Row 6229812 (NC_000002.11:71894576:C:C 120680/120684, NC_000002.11:71894576:C:G 4/120684) Row 6229813 (NC_000002.11:71894576:C:C 120682/120684, NC_000002.11:71894576:C:T 2/120684)	-	Oct 11, 2018 (152)
18	gnomAD - Genomes	NC_000002.12 - 71667447	Apr 27, 2021 (155)
19	gnomAD - Exomes Submission ignored due to conflicting rows: Row 1791345 (NC_000002.11:71894576:C:C 251298/251302, NC_000002.11:71894576:C:G 4/251302) Row 1791346 (NC_000002.11:71894576:C:C 251299/251302, NC_000002.11:71894576:C:T 3/251302)	-	Jul 13, 2019 (153)
20	gnomAD - Exomes Submission ignored due to conflicting rows: Row 1791345 (NC_000002.11:71894576:C:C 251298/251302, NC_000002.11:71894576:C:G 4/251302) Row 1791346 (NC_000002.11:71894576:C:C 251299/251302, NC_000002.11:71894576:C:T 3/251302)	-	Jul 13, 2019 (153)
21	GO Exome Sequencing Project	NC_000002.11 - 71894577	Oct 11, 2018 (152)
22	TopMed	NC_000002.12 - 71667447	Apr 27, 2021 (155)
23	ALFA	NC_000002.12 - 71667447	Apr 27, 2021 (155)
24	ClinVar	RCV000178627.3	Oct 17, 2022 (156)
25	ClinVar	RCV000813699.4	Oct 17, 2022 (156)
26	ClinVar	RCV001826908.1	Oct 17, 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
8760780, 237992, ss712420938, ss1297797234, ss1686355342, ss2732738834, ss2746702233, ss2775073924, ss3823779535, ss5329811387	NC_000002.11:71894576:C:G	NC_000002.12:71667446:C:G	(self)
RCV000178627.3, RCV000813699.4, RCV001826908.1, 11535984, 62203943, 314468831, 719407595, ss2231468681, ss4510645952, ss5524010049, ss5930921559	NC_000002.12:71667446:C:G	NC_000002.12:71667446:C:G	(self)
ss1686355341, ss2732738834	NC_000002.11:71894576:C:T	NC_000002.12:71667446:C:T	(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 rs370866476

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs370866476