Name: rs60666075
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.

rs60666075

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:684865-684876 (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)₄ / delTTT / delTT / delT / …
del(T)₄ / delTTT / delTT / delT / dupT / dupTT
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.01370 (206/15038, ALFA)
delT=0.2140 (392/1832, Korea1K)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ENOSF1 : 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	Alt HMOZ	HTRZ	HWEP
Total	Global	15038	TTTTTTTTTTTT=0.98444	TTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.01370, TTTTTTTTTTTTT=0.00186, TTTTTTTTTTTTTT=0.00000	0.973038	0.000534	0.026428	3
European	Sub	12966	TTTTTTTTTTTT=0.98195	TTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.01589, TTTTTTTTTTTTT=0.00216, TTTTTTTTTTTTTT=0.00000	0.968711	0.00062	0.030669	2
African	Sub	940	TTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	34	TTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	906	TTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	78	TTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	58	TTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	TTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	104	TTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	516	TTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	74	TTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	360	TTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	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	15038	(T)₁₂=0.98444	del(T)₄=0.00000, delTT=0.00000, delT=0.01370, dupT=0.00186, dupTT=0.00000
Allele Frequency Aggregator	European	Sub	12966	(T)₁₂=0.98195	del(T)₄=0.00000, delTT=0.00000, delT=0.01589, dupT=0.00216, dupTT=0.00000
Allele Frequency Aggregator	African	Sub	940	(T)₁₂=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	516	(T)₁₂=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	360	(T)₁₂=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	104	(T)₁₂=1.000	del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	78	(T)₁₂=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	South Asian	Sub	74	(T)₁₂=1.00	del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Korean Genome Project	KOREAN	Study-wide	1832	(T)₁₂=0.7860	delT=0.2140

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 18	NC_000018.10:g.684873_684876del
GRCh38.p14 chr 18	NC_000018.10:g.684874_684876del
GRCh38.p14 chr 18	NC_000018.10:g.684875_684876del
GRCh38.p14 chr 18	NC_000018.10:g.684876del
GRCh38.p14 chr 18	NC_000018.10:g.684876dup
GRCh38.p14 chr 18	NC_000018.10:g.684875_684876dup
GRCh37.p13 chr 18	NC_000018.9:g.684873_684876del
GRCh37.p13 chr 18	NC_000018.9:g.684874_684876del
GRCh37.p13 chr 18	NC_000018.9:g.684875_684876del
GRCh37.p13 chr 18	NC_000018.9:g.684876del
GRCh37.p13 chr 18	NC_000018.9:g.684876dup
GRCh37.p13 chr 18	NC_000018.9:g.684875_684876dup

Gene: ENOSF1, enolase superfamily member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ENOSF1 transcript variant 5	NM_001318760.2:c.198+1053… NM_001318760.2:c.198+1053_198+1056del	N/A	Intron Variant
ENOSF1 transcript variant 9	NM_001354065.2:c.495+1053… NM_001354065.2:c.495+1053_495+1056del	N/A	Intron Variant
ENOSF1 transcript variant 11	NM_001354066.2:c.741+1053… NM_001354066.2:c.741+1053_741+1056del	N/A	Intron Variant
ENOSF1 transcript variant 12	NM_001354067.2:c.885+1053… NM_001354067.2:c.885+1053_885+1056del	N/A	Intron Variant
ENOSF1 transcript variant 13	NM_001354068.2:c.696+1053… NM_001354068.2:c.696+1053_696+1056del	N/A	Intron Variant
ENOSF1 transcript variant 1	NM_017512.7:c.741+1053_74… NM_017512.7:c.741+1053_741+1056del	N/A	Intron Variant
ENOSF1 transcript variant 3	NM_202758.5:c.885+1053_88… NM_202758.5:c.885+1053_885+1056del	N/A	Intron Variant
ENOSF1 transcript variant 2	NR_148706.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 4	NR_148707.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 6	NR_148708.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 7	NR_148709.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 8	NR_148710.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 10	NR_148711.2:n.	N/A	Intron Variant
ENOSF1 transcript variant 14	NR_148712.2:n.	N/A	Intron Variant
ENOSF1 transcript variant X5	XM_024451201.2:c.741+1053… XM_024451201.2:c.741+1053_741+1056del	N/A	Intron Variant
ENOSF1 transcript variant X7	XM_024451202.2:c.846+1053… XM_024451202.2:c.846+1053_846+1056del	N/A	Intron Variant
ENOSF1 transcript variant X9	XM_024451203.2:c.702+1053… XM_024451203.2:c.702+1053_702+1056del	N/A	Intron Variant
ENOSF1 transcript variant X15	XM_024451204.2:c.696+1053… XM_024451204.2:c.696+1053_696+1056del	N/A	Intron Variant
ENOSF1 transcript variant X18	XM_024451208.2:c.516+1053… XM_024451208.2:c.516+1053_516+1056del	N/A	Intron Variant
ENOSF1 transcript variant X20	XM_024451209.2:c.513+1053… XM_024451209.2:c.513+1053_513+1056del	N/A	Intron Variant
ENOSF1 transcript variant X22	XM_024451210.2:c.495+1053… XM_024451210.2:c.495+1053_495+1056del	N/A	Intron Variant
ENOSF1 transcript variant X10	XM_047437612.1:c.702+1053… XM_047437612.1:c.702+1053_702+1056del	N/A	Intron Variant
ENOSF1 transcript variant X13	XM_047437613.1:c.657+1053… XM_047437613.1:c.657+1053_657+1056del	N/A	Intron Variant
ENOSF1 transcript variant X16	XM_047437614.1:c.552+1053… XM_047437614.1:c.552+1053_552+1056del	N/A	Intron Variant
ENOSF1 transcript variant X23	XM_047437615.1:c.885+1053… XM_047437615.1:c.885+1053_885+1056del	N/A	Intron Variant
ENOSF1 transcript variant X24	XM_047437616.1:c.885+1053… XM_047437616.1:c.885+1053_885+1056del	N/A	Intron Variant
ENOSF1 transcript variant X25	XM_047437617.1:c.324+1053… XM_047437617.1:c.324+1053_324+1056del	N/A	Intron Variant
ENOSF1 transcript variant X26	XM_047437618.1:c.309+1053… XM_047437618.1:c.309+1053_309+1056del	N/A	Intron Variant
ENOSF1 transcript variant X28	XM_047437620.1:c.198+1053… XM_047437620.1:c.198+1053_198+1056del	N/A	Intron Variant
ENOSF1 transcript variant X30	XM_047437621.1:c.198+1053… XM_047437621.1:c.198+1053_198+1056del	N/A	Intron Variant
ENOSF1 transcript variant X1	XM_047437611.1:c.	N/A	Genic Upstream Transcript Variant
ENOSF1 transcript variant X27	XM_047437619.1:c.	N/A	Genic Downstream Transcript Variant
ENOSF1 transcript variant X33	XM_047437622.1:c.	N/A	Genic Downstream Transcript Variant
ENOSF1 transcript variant X2	XR_007066181.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X4	XR_007066182.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X6	XR_007066183.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X8	XR_007066184.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X11	XR_007066185.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X12	XR_007066186.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X14	XR_007066187.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X17	XR_007066188.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X19	XR_007066189.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X21	XR_007066190.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X29	XR_007066191.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X31	XR_007066192.1:n.	N/A	Intron Variant
ENOSF1 transcript variant X3	XR_430041.5:n.	N/A	Intron Variant
ENOSF1 transcript variant X32	XR_007066193.1:n.	N/A	Genic Downstream 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)₁₂=	del(T)₄	delTTT	delTT	delT	dupT	dupTT
GRCh38.p14 chr 18	NC_000018.10:g.684865_684876=	NC_000018.10:g.684873_684876del	NC_000018.10:g.684874_684876del	NC_000018.10:g.684875_684876del	NC_000018.10:g.684876del	NC_000018.10:g.684876dup	NC_000018.10:g.684875_684876dup
GRCh37.p13 chr 18	NC_000018.9:g.684865_684876=	NC_000018.9:g.684873_684876del	NC_000018.9:g.684874_684876del	NC_000018.9:g.684875_684876del	NC_000018.9:g.684876del	NC_000018.9:g.684876dup	NC_000018.9:g.684875_684876dup
ENOSF1 transcript variant 2	NM_001126123.3:c.495+1056=	NM_001126123.3:c.495+1053_495+1056del	NM_001126123.3:c.495+1054_495+1056del	NM_001126123.3:c.495+1055_495+1056del	NM_001126123.3:c.495+1056del	NM_001126123.3:c.495+1056dup	NM_001126123.3:c.495+1055_495+1056dup
ENOSF1 transcript variant 5	NM_001318760.2:c.198+1056=	NM_001318760.2:c.198+1053_198+1056del	NM_001318760.2:c.198+1054_198+1056del	NM_001318760.2:c.198+1055_198+1056del	NM_001318760.2:c.198+1056del	NM_001318760.2:c.198+1056dup	NM_001318760.2:c.198+1055_198+1056dup
ENOSF1 transcript variant 9	NM_001354065.2:c.495+1056=	NM_001354065.2:c.495+1053_495+1056del	NM_001354065.2:c.495+1054_495+1056del	NM_001354065.2:c.495+1055_495+1056del	NM_001354065.2:c.495+1056del	NM_001354065.2:c.495+1056dup	NM_001354065.2:c.495+1055_495+1056dup
ENOSF1 transcript variant 11	NM_001354066.2:c.741+1056=	NM_001354066.2:c.741+1053_741+1056del	NM_001354066.2:c.741+1054_741+1056del	NM_001354066.2:c.741+1055_741+1056del	NM_001354066.2:c.741+1056del	NM_001354066.2:c.741+1056dup	NM_001354066.2:c.741+1055_741+1056dup
ENOSF1 transcript variant 12	NM_001354067.2:c.885+1056=	NM_001354067.2:c.885+1053_885+1056del	NM_001354067.2:c.885+1054_885+1056del	NM_001354067.2:c.885+1055_885+1056del	NM_001354067.2:c.885+1056del	NM_001354067.2:c.885+1056dup	NM_001354067.2:c.885+1055_885+1056dup
ENOSF1 transcript variant 13	NM_001354068.2:c.696+1056=	NM_001354068.2:c.696+1053_696+1056del	NM_001354068.2:c.696+1054_696+1056del	NM_001354068.2:c.696+1055_696+1056del	NM_001354068.2:c.696+1056del	NM_001354068.2:c.696+1056dup	NM_001354068.2:c.696+1055_696+1056dup
ENOSF1 transcript variant 1	NM_017512.5:c.741+1056=	NM_017512.5:c.741+1053_741+1056del	NM_017512.5:c.741+1054_741+1056del	NM_017512.5:c.741+1055_741+1056del	NM_017512.5:c.741+1056del	NM_017512.5:c.741+1056dup	NM_017512.5:c.741+1055_741+1056dup
ENOSF1 transcript variant 1	NM_017512.7:c.741+1056=	NM_017512.7:c.741+1053_741+1056del	NM_017512.7:c.741+1054_741+1056del	NM_017512.7:c.741+1055_741+1056del	NM_017512.7:c.741+1056del	NM_017512.7:c.741+1056dup	NM_017512.7:c.741+1055_741+1056dup
ENOSF1 transcript variant 3	NM_202758.3:c.804+1056=	NM_202758.3:c.804+1053_804+1056del	NM_202758.3:c.804+1054_804+1056del	NM_202758.3:c.804+1055_804+1056del	NM_202758.3:c.804+1056del	NM_202758.3:c.804+1056dup	NM_202758.3:c.804+1055_804+1056dup
ENOSF1 transcript variant 3	NM_202758.5:c.885+1056=	NM_202758.5:c.885+1053_885+1056del	NM_202758.5:c.885+1054_885+1056del	NM_202758.5:c.885+1055_885+1056del	NM_202758.5:c.885+1056del	NM_202758.5:c.885+1056dup	NM_202758.5:c.885+1055_885+1056dup
ENOSF1 transcript variant X1	XM_005258111.1:c.885+1056=	XM_005258111.1:c.885+1053_885+1056del	XM_005258111.1:c.885+1054_885+1056del	XM_005258111.1:c.885+1055_885+1056del	XM_005258111.1:c.885+1056del	XM_005258111.1:c.885+1056dup	XM_005258111.1:c.885+1055_885+1056dup
ENOSF1 transcript variant X2	XM_005258112.1:c.660+1056=	XM_005258112.1:c.660+1053_660+1056del	XM_005258112.1:c.660+1054_660+1056del	XM_005258112.1:c.660+1055_660+1056del	XM_005258112.1:c.660+1056del	XM_005258112.1:c.660+1056dup	XM_005258112.1:c.660+1055_660+1056dup
ENOSF1 transcript variant X3	XM_005258113.1:c.657+1056=	XM_005258113.1:c.657+1053_657+1056del	XM_005258113.1:c.657+1054_657+1056del	XM_005258113.1:c.657+1055_657+1056del	XM_005258113.1:c.657+1056del	XM_005258113.1:c.657+1056dup	XM_005258113.1:c.657+1055_657+1056dup
ENOSF1 transcript variant X4	XM_005258114.1:c.513+1056=	XM_005258114.1:c.513+1053_513+1056del	XM_005258114.1:c.513+1054_513+1056del	XM_005258114.1:c.513+1055_513+1056del	XM_005258114.1:c.513+1056del	XM_005258114.1:c.513+1056dup	XM_005258114.1:c.513+1055_513+1056dup
ENOSF1 transcript variant X5	XM_005258115.1:c.495+1056=	XM_005258115.1:c.495+1053_495+1056del	XM_005258115.1:c.495+1054_495+1056del	XM_005258115.1:c.495+1055_495+1056del	XM_005258115.1:c.495+1056del	XM_005258115.1:c.495+1056dup	XM_005258115.1:c.495+1055_495+1056dup
ENOSF1 transcript variant X6	XM_005258116.1:c.495+1056=	XM_005258116.1:c.495+1053_495+1056del	XM_005258116.1:c.495+1054_495+1056del	XM_005258116.1:c.495+1055_495+1056del	XM_005258116.1:c.495+1056del	XM_005258116.1:c.495+1056dup	XM_005258116.1:c.495+1055_495+1056dup
ENOSF1 transcript variant X7	XM_005258117.1:c.309+1056=	XM_005258117.1:c.309+1053_309+1056del	XM_005258117.1:c.309+1054_309+1056del	XM_005258117.1:c.309+1055_309+1056del	XM_005258117.1:c.309+1056del	XM_005258117.1:c.309+1056dup	XM_005258117.1:c.309+1055_309+1056dup
ENOSF1 transcript variant X8	XM_005258118.1:c.198+1056=	XM_005258118.1:c.198+1053_198+1056del	XM_005258118.1:c.198+1054_198+1056del	XM_005258118.1:c.198+1055_198+1056del	XM_005258118.1:c.198+1056del	XM_005258118.1:c.198+1056dup	XM_005258118.1:c.198+1055_198+1056dup
ENOSF1 transcript variant X10	XM_005258120.1:c.156+1056=	XM_005258120.1:c.156+1053_156+1056del	XM_005258120.1:c.156+1054_156+1056del	XM_005258120.1:c.156+1055_156+1056del	XM_005258120.1:c.156+1056del	XM_005258120.1:c.156+1056dup	XM_005258120.1:c.156+1055_156+1056dup
ENOSF1 transcript variant X5	XM_024451201.2:c.741+1056=	XM_024451201.2:c.741+1053_741+1056del	XM_024451201.2:c.741+1054_741+1056del	XM_024451201.2:c.741+1055_741+1056del	XM_024451201.2:c.741+1056del	XM_024451201.2:c.741+1056dup	XM_024451201.2:c.741+1055_741+1056dup
ENOSF1 transcript variant X7	XM_024451202.2:c.846+1056=	XM_024451202.2:c.846+1053_846+1056del	XM_024451202.2:c.846+1054_846+1056del	XM_024451202.2:c.846+1055_846+1056del	XM_024451202.2:c.846+1056del	XM_024451202.2:c.846+1056dup	XM_024451202.2:c.846+1055_846+1056dup
ENOSF1 transcript variant X9	XM_024451203.2:c.702+1056=	XM_024451203.2:c.702+1053_702+1056del	XM_024451203.2:c.702+1054_702+1056del	XM_024451203.2:c.702+1055_702+1056del	XM_024451203.2:c.702+1056del	XM_024451203.2:c.702+1056dup	XM_024451203.2:c.702+1055_702+1056dup
ENOSF1 transcript variant X15	XM_024451204.2:c.696+1056=	XM_024451204.2:c.696+1053_696+1056del	XM_024451204.2:c.696+1054_696+1056del	XM_024451204.2:c.696+1055_696+1056del	XM_024451204.2:c.696+1056del	XM_024451204.2:c.696+1056dup	XM_024451204.2:c.696+1055_696+1056dup
ENOSF1 transcript variant X18	XM_024451208.2:c.516+1056=	XM_024451208.2:c.516+1053_516+1056del	XM_024451208.2:c.516+1054_516+1056del	XM_024451208.2:c.516+1055_516+1056del	XM_024451208.2:c.516+1056del	XM_024451208.2:c.516+1056dup	XM_024451208.2:c.516+1055_516+1056dup
ENOSF1 transcript variant X20	XM_024451209.2:c.513+1056=	XM_024451209.2:c.513+1053_513+1056del	XM_024451209.2:c.513+1054_513+1056del	XM_024451209.2:c.513+1055_513+1056del	XM_024451209.2:c.513+1056del	XM_024451209.2:c.513+1056dup	XM_024451209.2:c.513+1055_513+1056dup
ENOSF1 transcript variant X22	XM_024451210.2:c.495+1056=	XM_024451210.2:c.495+1053_495+1056del	XM_024451210.2:c.495+1054_495+1056del	XM_024451210.2:c.495+1055_495+1056del	XM_024451210.2:c.495+1056del	XM_024451210.2:c.495+1056dup	XM_024451210.2:c.495+1055_495+1056dup
ENOSF1 transcript variant X10	XM_047437612.1:c.702+1056=	XM_047437612.1:c.702+1053_702+1056del	XM_047437612.1:c.702+1054_702+1056del	XM_047437612.1:c.702+1055_702+1056del	XM_047437612.1:c.702+1056del	XM_047437612.1:c.702+1056dup	XM_047437612.1:c.702+1055_702+1056dup
ENOSF1 transcript variant X13	XM_047437613.1:c.657+1056=	XM_047437613.1:c.657+1053_657+1056del	XM_047437613.1:c.657+1054_657+1056del	XM_047437613.1:c.657+1055_657+1056del	XM_047437613.1:c.657+1056del	XM_047437613.1:c.657+1056dup	XM_047437613.1:c.657+1055_657+1056dup
ENOSF1 transcript variant X16	XM_047437614.1:c.552+1056=	XM_047437614.1:c.552+1053_552+1056del	XM_047437614.1:c.552+1054_552+1056del	XM_047437614.1:c.552+1055_552+1056del	XM_047437614.1:c.552+1056del	XM_047437614.1:c.552+1056dup	XM_047437614.1:c.552+1055_552+1056dup
ENOSF1 transcript variant X23	XM_047437615.1:c.885+1056=	XM_047437615.1:c.885+1053_885+1056del	XM_047437615.1:c.885+1054_885+1056del	XM_047437615.1:c.885+1055_885+1056del	XM_047437615.1:c.885+1056del	XM_047437615.1:c.885+1056dup	XM_047437615.1:c.885+1055_885+1056dup
ENOSF1 transcript variant X24	XM_047437616.1:c.885+1056=	XM_047437616.1:c.885+1053_885+1056del	XM_047437616.1:c.885+1054_885+1056del	XM_047437616.1:c.885+1055_885+1056del	XM_047437616.1:c.885+1056del	XM_047437616.1:c.885+1056dup	XM_047437616.1:c.885+1055_885+1056dup
ENOSF1 transcript variant X25	XM_047437617.1:c.324+1056=	XM_047437617.1:c.324+1053_324+1056del	XM_047437617.1:c.324+1054_324+1056del	XM_047437617.1:c.324+1055_324+1056del	XM_047437617.1:c.324+1056del	XM_047437617.1:c.324+1056dup	XM_047437617.1:c.324+1055_324+1056dup
ENOSF1 transcript variant X26	XM_047437618.1:c.309+1056=	XM_047437618.1:c.309+1053_309+1056del	XM_047437618.1:c.309+1054_309+1056del	XM_047437618.1:c.309+1055_309+1056del	XM_047437618.1:c.309+1056del	XM_047437618.1:c.309+1056dup	XM_047437618.1:c.309+1055_309+1056dup
ENOSF1 transcript variant X28	XM_047437620.1:c.198+1056=	XM_047437620.1:c.198+1053_198+1056del	XM_047437620.1:c.198+1054_198+1056del	XM_047437620.1:c.198+1055_198+1056del	XM_047437620.1:c.198+1056del	XM_047437620.1:c.198+1056dup	XM_047437620.1:c.198+1055_198+1056dup
ENOSF1 transcript variant X30	XM_047437621.1:c.198+1056=	XM_047437621.1:c.198+1053_198+1056del	XM_047437621.1:c.198+1054_198+1056del	XM_047437621.1:c.198+1055_198+1056del	XM_047437621.1:c.198+1056del	XM_047437621.1:c.198+1056dup	XM_047437621.1:c.198+1055_198+1056dup

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#.

36 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80322640	Dec 15, 2007 (129)
2	BUSHMAN	ss193465593	Jul 04, 2010 (137)
3	SSMP	ss664415955	Apr 01, 2015 (144)
4	BILGI_BIOE	ss666701836	Apr 25, 2013 (138)
5	SWEGEN	ss3016033717	Nov 08, 2017 (151)
6	MCHAISSO	ss3063880755	Nov 08, 2017 (151)
7	MCHAISSO	ss3064725070	Nov 08, 2017 (151)
8	MCHAISSO	ss3065667489	Nov 08, 2017 (151)
9	BIOINF_KMB_FNS_UNIBA	ss3645470217	Oct 12, 2018 (152)
10	EVA_DECODE	ss3701069721	Jul 13, 2019 (153)
11	EVA_DECODE	ss3701069722	Jul 13, 2019 (153)
12	ACPOP	ss3742283604	Jul 13, 2019 (153)
13	ACPOP	ss3742283605	Jul 13, 2019 (153)
14	EVA	ss3835017391	Apr 27, 2020 (154)
15	KOGIC	ss3979460644	Apr 27, 2020 (154)
16	GNOMAD	ss4316910363	Apr 27, 2021 (155)
17	GNOMAD	ss4316910364	Apr 27, 2021 (155)
18	GNOMAD	ss4316910365	Apr 27, 2021 (155)
19	GNOMAD	ss4316910366	Apr 27, 2021 (155)
20	GNOMAD	ss4316910367	Apr 27, 2021 (155)
21	TOPMED	ss5046211901	Apr 27, 2021 (155)
22	TOPMED	ss5046211903	Apr 27, 2021 (155)
23	TOMMO_GENOMICS	ss5223836132	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5223836133	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5223836134	Apr 27, 2021 (155)
26	1000G_HIGH_COVERAGE	ss5304205724	Oct 16, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5304205725	Oct 16, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5304205726	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5497137039	Oct 16, 2022 (156)
30	HUGCELL_USP	ss5497137040	Oct 16, 2022 (156)
31	HUGCELL_USP	ss5497137041	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5780511785	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5780511786	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5780511787	Oct 16, 2022 (156)
35	YY_MCH	ss5816799743	Oct 16, 2022 (156)
36	EVA	ss5872898409	Oct 16, 2022 (156)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515942228 (NC_000018.10:684864::T 544/135950) Row 515942229 (NC_000018.10:684864::TT 1/135970) Row 515942230 (NC_000018.10:684864:T: 23686/135328)...	-	Apr 27, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515942228 (NC_000018.10:684864::T 544/135950) Row 515942229 (NC_000018.10:684864::TT 1/135970) Row 515942230 (NC_000018.10:684864:T: 23686/135328)...	-	Apr 27, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515942228 (NC_000018.10:684864::T 544/135950) Row 515942229 (NC_000018.10:684864::TT 1/135970) Row 515942230 (NC_000018.10:684864:T: 23686/135328)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515942228 (NC_000018.10:684864::T 544/135950) Row 515942229 (NC_000018.10:684864::TT 1/135970) Row 515942230 (NC_000018.10:684864:T: 23686/135328)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 515942228 (NC_000018.10:684864::T 544/135950) Row 515942229 (NC_000018.10:684864::TT 1/135970) Row 515942230 (NC_000018.10:684864:T: 23686/135328)...	-	Apr 27, 2021 (155)
42	Korean Genome Project	NC_000018.10 - 684865	Apr 27, 2020 (154)
43	Northern Sweden Submission ignored due to conflicting rows: Row 15568469 (NC_000018.9:684864:T: 14/600) Row 15568470 (NC_000018.9:684864::T 2/600)	-	Jul 13, 2019 (153)
44	Northern Sweden Submission ignored due to conflicting rows: Row 15568469 (NC_000018.9:684864:T: 14/600) Row 15568470 (NC_000018.9:684864::T 2/600)	-	Jul 13, 2019 (153)
45	8.3KJPN Submission ignored due to conflicting rows: Row 81805439 (NC_000018.9:684864:T: 2830/16756) Row 81805440 (NC_000018.9:684864:TT: 2/16756) Row 81805441 (NC_000018.9:684864::T 5/16756)	-	Apr 27, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 81805439 (NC_000018.9:684864:T: 2830/16756) Row 81805440 (NC_000018.9:684864:TT: 2/16756) Row 81805441 (NC_000018.9:684864::T 5/16756)	-	Apr 27, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 81805439 (NC_000018.9:684864:T: 2830/16756) Row 81805440 (NC_000018.9:684864:TT: 2/16756) Row 81805441 (NC_000018.9:684864::T 5/16756)	-	Apr 27, 2021 (155)
48	14KJPN Submission ignored due to conflicting rows: Row 114348889 (NC_000018.10:684864:T: 4728/28252) Row 114348890 (NC_000018.10:684864:TT: 5/28252) Row 114348891 (NC_000018.10:684864::T 3/28252)	-	Oct 16, 2022 (156)
49	14KJPN Submission ignored due to conflicting rows: Row 114348889 (NC_000018.10:684864:T: 4728/28252) Row 114348890 (NC_000018.10:684864:TT: 5/28252) Row 114348891 (NC_000018.10:684864::T 3/28252)	-	Oct 16, 2022 (156)
50	14KJPN Submission ignored due to conflicting rows: Row 114348889 (NC_000018.10:684864:T: 4728/28252) Row 114348890 (NC_000018.10:684864:TT: 5/28252) Row 114348891 (NC_000018.10:684864::T 3/28252)	-	Oct 16, 2022 (156)
51	TopMed Submission ignored due to conflicting rows: Row 261757564 (NC_000018.10:684864::TT 2/264690) Row 261757566 (NC_000018.10:684864:T: 47510/264690)	-	Apr 27, 2021 (155)
52	TopMed Submission ignored due to conflicting rows: Row 261757564 (NC_000018.10:684864::TT 2/264690) Row 261757566 (NC_000018.10:684864:T: 47510/264690)	-	Apr 27, 2021 (155)
53	ALFA	NC_000018.10 - 684865	Apr 27, 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)
rs111721671	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3540646366	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTT	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTT	(self)
ss4316910367	NC_000018.10:684864:TTT:	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTT	(self)
ss5223836133	NC_000018.9:684864:TT:	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4316910366, ss5304205725, ss5497137041, ss5780511786	NC_000018.10:684864:TT:	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTT	(self)
3540646366	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTT	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTT	(self)
ss80322640	NC_000018.8:674875:T:	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss664415955, ss666701836, ss3016033717, ss3742283604, ss3835017391, ss5223836132	NC_000018.9:684864:T:	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
35838645, ss3063880755, ss3064725070, ss3065667489, ss3645470217, ss3701069721, ss3979460644, ss4316910365, ss5046211903, ss5304205724, ss5497137040, ss5780511785, ss5816799743, ss5872898409	NC_000018.10:684864:T:	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
3540646366	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTT	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss193465593	NT_010859.15:674864:T:	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3742283605, ss5223836134	NC_000018.9:684864::T	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4316910363, ss5304205726, ss5497137039, ss5780511787	NC_000018.10:684864::T	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
3540646366	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3701069722	NC_000018.10:684865::T	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4316910364, ss5046211901	NC_000018.10:684864::TT	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
3540646366	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000018.10:684864:TTTTTTTTTTTT:T… NC_000018.10:684864:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(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 rs60666075

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

rs60666075