Name: rs56085382
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.

rs56085382

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:232627065-232627079 (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: del(T)₉ / del(T)₈ / del(T)₇ / del(…
del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₇
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₉=0.0000 (0/8930, ALFA)
del(T)₈=0.0000 (0/8930, ALFA)
del(T)₇=0.0000 (0/8930, ALFA) (+ 12 more)
del(T)₆=0.0000 (0/8930, ALFA)
del(T)₅=0.0000 (0/8930, ALFA)
del(T)₄=0.0000 (0/8930, ALFA)
delTTT=0.0000 (0/8930, ALFA)
delTT=0.0000 (0/8930, ALFA)
delT=0.0000 (0/8930, ALFA)
dupT=0.0000 (0/8930, ALFA)
dupTT=0.0000 (0/8930, ALFA)
dupTTT=0.0000 (0/8930, ALFA)
dup(T)₄=0.0000 (0/8930, ALFA)
dup(T)₅=0.0000 (0/8930, ALFA)
dup(T)₇=0.0000 (0/8930, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: EFHD1 : 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	8930	TTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	5754	TTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	2146	TTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	86	TTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	2060	TTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	68	TTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	56	TTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	12	TTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	110	TTTTTTTTTTTTTTT=1.000	TTTTTT=0.000, TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
Latin American 2	Sub	406	TTTTTTTTTTTTTTT=1.000	TTTTTT=0.000, TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	84	TTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	362	TTTTTTTTTTTTTTT=1.000	TTTTTT=0.000, TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=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
Allele Frequency Aggregator	Total	Global	8930	(T)₁₅=1.0000	del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₇=0.0000
Allele Frequency Aggregator	European	Sub	5754	(T)₁₅=1.0000	del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₇=0.0000
Allele Frequency Aggregator	African	Sub	2146	(T)₁₅=1.0000	del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₇=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	406	(T)₁₅=1.000	del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Other	Sub	362	(T)₁₅=1.000	del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	110	(T)₁₅=1.000	del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	South Asian	Sub	84	(T)₁₅=1.00	del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	Asian	Sub	68	(T)₁₅=1.00	del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₇=0.00

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.232627071_232627079del
GRCh38.p14 chr 2	NC_000002.12:g.232627072_232627079del
GRCh38.p14 chr 2	NC_000002.12:g.232627073_232627079del
GRCh38.p14 chr 2	NC_000002.12:g.232627074_232627079del
GRCh38.p14 chr 2	NC_000002.12:g.232627075_232627079del
GRCh38.p14 chr 2	NC_000002.12:g.232627076_232627079del
GRCh38.p14 chr 2	NC_000002.12:g.232627077_232627079del
GRCh38.p14 chr 2	NC_000002.12:g.232627078_232627079del
GRCh38.p14 chr 2	NC_000002.12:g.232627079del
GRCh38.p14 chr 2	NC_000002.12:g.232627079dup
GRCh38.p14 chr 2	NC_000002.12:g.232627078_232627079dup
GRCh38.p14 chr 2	NC_000002.12:g.232627077_232627079dup
GRCh38.p14 chr 2	NC_000002.12:g.232627076_232627079dup
GRCh38.p14 chr 2	NC_000002.12:g.232627075_232627079dup
GRCh38.p14 chr 2	NC_000002.12:g.232627073_232627079dup
GRCh37.p13 chr 2	NC_000002.11:g.233491781_233491789del
GRCh37.p13 chr 2	NC_000002.11:g.233491782_233491789del
GRCh37.p13 chr 2	NC_000002.11:g.233491783_233491789del
GRCh37.p13 chr 2	NC_000002.11:g.233491784_233491789del
GRCh37.p13 chr 2	NC_000002.11:g.233491785_233491789del
GRCh37.p13 chr 2	NC_000002.11:g.233491786_233491789del
GRCh37.p13 chr 2	NC_000002.11:g.233491787_233491789del
GRCh37.p13 chr 2	NC_000002.11:g.233491788_233491789del
GRCh37.p13 chr 2	NC_000002.11:g.233491789del
GRCh37.p13 chr 2	NC_000002.11:g.233491789dup
GRCh37.p13 chr 2	NC_000002.11:g.233491788_233491789dup
GRCh37.p13 chr 2	NC_000002.11:g.233491787_233491789dup
GRCh37.p13 chr 2	NC_000002.11:g.233491786_233491789dup
GRCh37.p13 chr 2	NC_000002.11:g.233491785_233491789dup
GRCh37.p13 chr 2	NC_000002.11:g.233491783_233491789dup
EFHD1 RefSeqGene	NG_051251.1:g.26015_26023del
EFHD1 RefSeqGene	NG_051251.1:g.26016_26023del
EFHD1 RefSeqGene	NG_051251.1:g.26017_26023del
EFHD1 RefSeqGene	NG_051251.1:g.26018_26023del
EFHD1 RefSeqGene	NG_051251.1:g.26019_26023del
EFHD1 RefSeqGene	NG_051251.1:g.26020_26023del
EFHD1 RefSeqGene	NG_051251.1:g.26021_26023del
EFHD1 RefSeqGene	NG_051251.1:g.26022_26023del
EFHD1 RefSeqGene	NG_051251.1:g.26023del
EFHD1 RefSeqGene	NG_051251.1:g.26023dup
EFHD1 RefSeqGene	NG_051251.1:g.26022_26023dup
EFHD1 RefSeqGene	NG_051251.1:g.26021_26023dup
EFHD1 RefSeqGene	NG_051251.1:g.26020_26023dup
EFHD1 RefSeqGene	NG_051251.1:g.26019_26023dup
EFHD1 RefSeqGene	NG_051251.1:g.26017_26023dup

Gene: EFHD1, EF-hand domain family member D1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EFHD1 transcript variant 2	NM_001243252.2:c.14+20898… NM_001243252.2:c.14+20898_14+20906del	N/A	Intron Variant
EFHD1 transcript variant 3	NM_001308395.2:c.	N/A	Genic Upstream Transcript Variant
EFHD1 transcript variant 1	NM_025202.4:c.	N/A	Genic Upstream Transcript 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.

Not Reported in ClinVar

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	(T)₁₅=	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₇
GRCh38.p14 chr 2	NC_000002.12:g.232627065_232627079=	NC_000002.12:g.232627071_232627079del	NC_000002.12:g.232627072_232627079del	NC_000002.12:g.232627073_232627079del	NC_000002.12:g.232627074_232627079del	NC_000002.12:g.232627075_232627079del	NC_000002.12:g.232627076_232627079del	NC_000002.12:g.232627077_232627079del	NC_000002.12:g.232627078_232627079del	NC_000002.12:g.232627079del	NC_000002.12:g.232627079dup	NC_000002.12:g.232627078_232627079dup	NC_000002.12:g.232627077_232627079dup	NC_000002.12:g.232627076_232627079dup	NC_000002.12:g.232627075_232627079dup	NC_000002.12:g.232627073_232627079dup
GRCh37.p13 chr 2	NC_000002.11:g.233491775_233491789=	NC_000002.11:g.233491781_233491789del	NC_000002.11:g.233491782_233491789del	NC_000002.11:g.233491783_233491789del	NC_000002.11:g.233491784_233491789del	NC_000002.11:g.233491785_233491789del	NC_000002.11:g.233491786_233491789del	NC_000002.11:g.233491787_233491789del	NC_000002.11:g.233491788_233491789del	NC_000002.11:g.233491789del	NC_000002.11:g.233491789dup	NC_000002.11:g.233491788_233491789dup	NC_000002.11:g.233491787_233491789dup	NC_000002.11:g.233491786_233491789dup	NC_000002.11:g.233491785_233491789dup	NC_000002.11:g.233491783_233491789dup
EFHD1 RefSeqGene	NG_051251.1:g.26009_26023=	NG_051251.1:g.26015_26023del	NG_051251.1:g.26016_26023del	NG_051251.1:g.26017_26023del	NG_051251.1:g.26018_26023del	NG_051251.1:g.26019_26023del	NG_051251.1:g.26020_26023del	NG_051251.1:g.26021_26023del	NG_051251.1:g.26022_26023del	NG_051251.1:g.26023del	NG_051251.1:g.26023dup	NG_051251.1:g.26022_26023dup	NG_051251.1:g.26021_26023dup	NG_051251.1:g.26020_26023dup	NG_051251.1:g.26019_26023dup	NG_051251.1:g.26017_26023dup
EFHD1 transcript variant 2	NM_001243252.1:c.14+20892=	NM_001243252.1:c.14+20898_14+20906del	NM_001243252.1:c.14+20899_14+20906del	NM_001243252.1:c.14+20900_14+20906del	NM_001243252.1:c.14+20901_14+20906del	NM_001243252.1:c.14+20902_14+20906del	NM_001243252.1:c.14+20903_14+20906del	NM_001243252.1:c.14+20904_14+20906del	NM_001243252.1:c.14+20905_14+20906del	NM_001243252.1:c.14+20906del	NM_001243252.1:c.14+20906dup	NM_001243252.1:c.14+20905_14+20906dup	NM_001243252.1:c.14+20904_14+20906dup	NM_001243252.1:c.14+20903_14+20906dup	NM_001243252.1:c.14+20902_14+20906dup	NM_001243252.1:c.14+20900_14+20906dup
EFHD1 transcript variant 2	NM_001243252.2:c.14+20892=	NM_001243252.2:c.14+20898_14+20906del	NM_001243252.2:c.14+20899_14+20906del	NM_001243252.2:c.14+20900_14+20906del	NM_001243252.2:c.14+20901_14+20906del	NM_001243252.2:c.14+20902_14+20906del	NM_001243252.2:c.14+20903_14+20906del	NM_001243252.2:c.14+20904_14+20906del	NM_001243252.2:c.14+20905_14+20906del	NM_001243252.2:c.14+20906del	NM_001243252.2:c.14+20906dup	NM_001243252.2:c.14+20905_14+20906dup	NM_001243252.2:c.14+20904_14+20906dup	NM_001243252.2:c.14+20903_14+20906dup	NM_001243252.2:c.14+20902_14+20906dup	NM_001243252.2:c.14+20900_14+20906dup

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#.

34 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95305951	Feb 13, 2009 (130)
2	PJP	ss295031941	May 09, 2011 (135)
3	ACPOP	ss3729473456	Jul 13, 2019 (153)
4	ACPOP	ss3729473458	Jul 13, 2019 (153)
5	ACPOP	ss3729473459	Jul 13, 2019 (153)
6	ACPOP	ss3729473460	Jul 13, 2019 (153)
7	GNOMAD	ss4063052964	Apr 26, 2021 (155)
8	GNOMAD	ss4063052971	Apr 26, 2021 (155)
9	GNOMAD	ss4063052972	Apr 26, 2021 (155)
10	GNOMAD	ss4063052973	Apr 26, 2021 (155)
11	GNOMAD	ss4063052974	Apr 26, 2021 (155)
12	GNOMAD	ss4063052975	Apr 26, 2021 (155)
13	GNOMAD	ss4063052976	Apr 26, 2021 (155)
14	GNOMAD	ss4063052977	Apr 26, 2021 (155)
15	GNOMAD	ss4063052978	Apr 26, 2021 (155)
16	GNOMAD	ss4063052979	Apr 26, 2021 (155)
17	GNOMAD	ss4063052980	Apr 26, 2021 (155)
18	GNOMAD	ss4063052981	Apr 26, 2021 (155)
19	GNOMAD	ss4063052982	Apr 26, 2021 (155)
20	GNOMAD	ss4063052983	Apr 26, 2021 (155)
21	GNOMAD	ss4063052984	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5157016086	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5157016087	Apr 26, 2021 (155)
24	TOMMO_GENOMICS	ss5157016088	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5157016089	Apr 26, 2021 (155)
26	1000G_HIGH_COVERAGE	ss5252432723	Oct 12, 2022 (156)
27	HUGCELL_USP	ss5452004552	Oct 12, 2022 (156)
28	HUGCELL_USP	ss5452004553	Oct 12, 2022 (156)
29	HUGCELL_USP	ss5452004554	Oct 12, 2022 (156)
30	HUGCELL_USP	ss5452004555	Oct 12, 2022 (156)
31	TOMMO_GENOMICS	ss5688055383	Oct 12, 2022 (156)
32	TOMMO_GENOMICS	ss5688055384	Oct 12, 2022 (156)
33	TOMMO_GENOMICS	ss5688055385	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5688055386	Oct 12, 2022 (156)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94220433 (NC_000002.12:232627064::T 1924/84432) Row 94220440 (NC_000002.12:232627064::TT 510/84576) Row 94220441 (NC_000002.12:232627064::TTT 37/84582)...	-	Apr 26, 2021 (155)
50	Northern Sweden Submission ignored due to conflicting rows: Row 2758321 (NC_000002.11:233491774:T: 31/558) Row 2758323 (NC_000002.11:233491774:TT: 12/558) Row 2758324 (NC_000002.11:233491774::T 10/558)...	-	Jul 13, 2019 (153)
51	Northern Sweden Submission ignored due to conflicting rows: Row 2758321 (NC_000002.11:233491774:T: 31/558) Row 2758323 (NC_000002.11:233491774:TT: 12/558) Row 2758324 (NC_000002.11:233491774::T 10/558)...	-	Jul 13, 2019 (153)
52	Northern Sweden Submission ignored due to conflicting rows: Row 2758321 (NC_000002.11:233491774:T: 31/558) Row 2758323 (NC_000002.11:233491774:TT: 12/558) Row 2758324 (NC_000002.11:233491774::T 10/558)...	-	Jul 13, 2019 (153)
53	Northern Sweden Submission ignored due to conflicting rows: Row 2758321 (NC_000002.11:233491774:T: 31/558) Row 2758323 (NC_000002.11:233491774:TT: 12/558) Row 2758324 (NC_000002.11:233491774::T 10/558)...	-	Jul 13, 2019 (153)
54	8.3KJPN Submission ignored due to conflicting rows: Row 14985393 (NC_000002.11:233491774::T 517/16636) Row 14985394 (NC_000002.11:233491774:TTTT: 341/16636) Row 14985395 (NC_000002.11:233491774:T: 1034/16636)...	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 14985393 (NC_000002.11:233491774::T 517/16636) Row 14985394 (NC_000002.11:233491774:TTTT: 341/16636) Row 14985395 (NC_000002.11:233491774:T: 1034/16636)...	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 14985393 (NC_000002.11:233491774::T 517/16636) Row 14985394 (NC_000002.11:233491774:TTTT: 341/16636) Row 14985395 (NC_000002.11:233491774:T: 1034/16636)...	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 14985393 (NC_000002.11:233491774::T 517/16636) Row 14985394 (NC_000002.11:233491774:TTTT: 341/16636) Row 14985395 (NC_000002.11:233491774:T: 1034/16636)...	-	Apr 26, 2021 (155)
58	14KJPN Submission ignored due to conflicting rows: Row 21892487 (NC_000002.12:232627064:T: 1888/28178) Row 21892488 (NC_000002.12:232627064:TTT: 1977/28178) Row 21892489 (NC_000002.12:232627064::T 957/28178)...	-	Oct 12, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 21892487 (NC_000002.12:232627064:T: 1888/28178) Row 21892488 (NC_000002.12:232627064:TTT: 1977/28178) Row 21892489 (NC_000002.12:232627064::T 957/28178)...	-	Oct 12, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 21892487 (NC_000002.12:232627064:T: 1888/28178) Row 21892488 (NC_000002.12:232627064:TTT: 1977/28178) Row 21892489 (NC_000002.12:232627064::T 957/28178)...	-	Oct 12, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 21892487 (NC_000002.12:232627064:T: 1888/28178) Row 21892488 (NC_000002.12:232627064:TTT: 1977/28178) Row 21892489 (NC_000002.12:232627064::T 957/28178)...	-	Oct 12, 2022 (156)
62	ALFA	NC_000002.12 - 232627065	Apr 26, 2021 (155)

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).

Associated ID	History Updated (Build)
rs58407474	May 25, 2008 (130)
rs149091549	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4063052984	NC_000002.12:232627064:TTTTTTTTT:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTT	(self)
ss4063052983	NC_000002.12:232627064:TTTTTTTT:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTT	(self)
ss4063052982	NC_000002.12:232627064:TTTTTTT:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTT	(self)
ss4063052981	NC_000002.12:232627064:TTTTTT:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4063052980	NC_000002.12:232627064:TTTTT:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss5157016087	NC_000002.11:233491774:TTTT:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4063052979, ss5688055386	NC_000002.12:232627064:TTTT:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3729473460, ss5157016089	NC_000002.11:233491774:TTT:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4063052978, ss5452004555, ss5688055384	NC_000002.12:232627064:TTT:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3729473458	NC_000002.11:233491774:TT:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4063052977, ss5452004552	NC_000002.12:232627064:TT:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3729473456, ss5157016088	NC_000002.11:233491774:T:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4063052976, ss5452004553, ss5688055383	NC_000002.12:232627064:T:	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss295031941	NC_000002.10:233200019::T	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3729473459, ss5157016086	NC_000002.11:233491774::T	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4063052964, ss5252432723, ss5452004554, ss5688055385	NC_000002.12:232627064::T	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss95305951	NT_005403.17:83701207::T	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4063052971	NC_000002.12:232627064::TT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4063052972	NC_000002.12:232627064::TTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4063052973	NC_000002.12:232627064::TTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4063052974	NC_000002.12:232627064::TTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4063052975	NC_000002.12:232627064::TTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
10661206285	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:232627064:TTTTTTTTTTT… NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(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 rs56085382

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs56085382