Name: rs780497625
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.

rs780497625

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:54684613-54684623 (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: delCC / delC / dupC / dupCC / dupC…
delCC / delC / dupC / dupCC / dupCCC / dup(C)₄ / dup(C)₅
Variation Type: Indel Insertion and Deletion
Frequency: delCC=0.00000 (0/10286, ALFA)
delC=0.00000 (0/10286, ALFA)
dupC=0.00000 (0/10286, ALFA) (+ 3 more)
dupCC=0.00000 (0/10286, ALFA)
dupCCC=0.00000 (0/10286, ALFA)
delC=0.086 (39/454, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SAMD4A-AS1 : Non Coding Transcript Variant
SAMD4A : 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	10286	CCCCCCCCCCC=1.00000	CCCCCCCCC=0.00000, CCCCCCCCCC=0.00000, CCCCCCCCCCCC=0.00000, CCCCCCCCCCCCC=0.00000, CCCCCCCCCCCCCC=0.00000	1.0	N/A
European	Sub	6774	CCCCCCCCCCC=1.0000	CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000	1.0	N/A
African	Sub	2210	CCCCCCCCCCC=1.0000	CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000	1.0	N/A
African Others	Sub	80	CCCCCCCCCCC=1.00	CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	N/A
African American	Sub	2130	CCCCCCCCCCC=1.0000	CCCCCCCCC=0.0000, CCCCCCCCCC=0.0000, CCCCCCCCCCCC=0.0000, CCCCCCCCCCCCC=0.0000, CCCCCCCCCCCCCC=0.0000	1.0	N/A
Asian	Sub	108	CCCCCCCCCCC=1.000	CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	N/A
East Asian	Sub	84	CCCCCCCCCCC=1.00	CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	N/A
Other Asian	Sub	24	CCCCCCCCCCC=1.00	CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	N/A
Latin American 1	Sub	128	CCCCCCCCCCC=1.000	CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	N/A
Latin American 2	Sub	582	CCCCCCCCCCC=1.000	CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=0.000	1.0	N/A
South Asian	Sub	84	CCCCCCCCCCC=1.00	CCCCCCCCC=0.00, CCCCCCCCCC=0.00, CCCCCCCCCCCC=0.00, CCCCCCCCCCCCC=0.00, CCCCCCCCCCCCCC=0.00	1.0	N/A
Other	Sub	400	CCCCCCCCCCC=1.000	CCCCCCCCC=0.000, CCCCCCCCCC=0.000, CCCCCCCCCCCC=0.000, CCCCCCCCCCCCC=0.000, CCCCCCCCCCCCCC=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	10286	(C)₁₁=1.00000	delCC=0.00000, delC=0.00000, dupC=0.00000, dupCC=0.00000, dupCCC=0.00000
Allele Frequency Aggregator	European	Sub	6774	(C)₁₁=1.0000	delCC=0.0000, delC=0.0000, dupC=0.0000, dupCC=0.0000, dupCCC=0.0000
Allele Frequency Aggregator	African	Sub	2210	(C)₁₁=1.0000	delCC=0.0000, delC=0.0000, dupC=0.0000, dupCC=0.0000, dupCCC=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	582	(C)₁₁=1.000	delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator	Other	Sub	400	(C)₁₁=1.000	delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator	Latin American 1	Sub	128	(C)₁₁=1.000	delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator	Asian	Sub	108	(C)₁₁=1.000	delCC=0.000, delC=0.000, dupC=0.000, dupCC=0.000, dupCCC=0.000
Allele Frequency Aggregator	South Asian	Sub	84	(C)₁₁=1.00	delCC=0.00, delC=0.00, dupC=0.00, dupCC=0.00, dupCCC=0.00
Northern Sweden	ACPOP	Study-wide	454	(C)₁₁=0.914	delC=0.086

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 14	NC_000014.9:g.54684622_54684623del
GRCh38.p14 chr 14	NC_000014.9:g.54684623del
GRCh38.p14 chr 14	NC_000014.9:g.54684623dup
GRCh38.p14 chr 14	NC_000014.9:g.54684622_54684623dup
GRCh38.p14 chr 14	NC_000014.9:g.54684621_54684623dup
GRCh38.p14 chr 14	NC_000014.9:g.54684620_54684623dup
GRCh38.p14 chr 14	NC_000014.9:g.54684619_54684623dup
GRCh37.p13 chr 14	NC_000014.8:g.55151340_55151341del
GRCh37.p13 chr 14	NC_000014.8:g.55151341del
GRCh37.p13 chr 14	NC_000014.8:g.55151341dup
GRCh37.p13 chr 14	NC_000014.8:g.55151340_55151341dup
GRCh37.p13 chr 14	NC_000014.8:g.55151339_55151341dup
GRCh37.p13 chr 14	NC_000014.8:g.55151338_55151341dup
GRCh37.p13 chr 14	NC_000014.8:g.55151337_55151341dup

Gene: SAMD4A, sterile alpha motif domain containing 4A (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SAMD4A transcript variant 2	NM_001161576.2:c.197-1744… NM_001161576.2:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant 1	NM_015589.6:c.197-17440_1… NM_015589.6:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant 3	NM_001161577.2:c.	N/A	Genic Upstream Transcript Variant
SAMD4A transcript variant X2	XM_024449514.2:c.197-1744… XM_024449514.2:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X3	XM_024449515.2:c.197-1744… XM_024449515.2:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X5	XM_024449516.2:c.197-1744… XM_024449516.2:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X1	XM_047431136.1:c.197-1744… XM_047431136.1:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X4	XM_047431137.1:c.197-1744… XM_047431137.1:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X6	XM_047431138.1:c.197-1744… XM_047431138.1:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X7	XM_047431139.1:c.197-1744… XM_047431139.1:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X8	XM_047431140.1:c.197-1744… XM_047431140.1:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X9	XM_047431141.1:c.197-1744… XM_047431141.1:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X10	XM_047431142.1:c.-108+256… XM_047431142.1:c.-108+2565_-108+2566del	N/A	Intron Variant
SAMD4A transcript variant X11	XM_047431143.1:c.197-1744… XM_047431143.1:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X12	XM_047431144.1:c.197-1744… XM_047431144.1:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X13	XM_047431145.1:c.197-1744… XM_047431145.1:c.197-17440_197-17439del	N/A	Intron Variant
SAMD4A transcript variant X14	XM_047431146.1:c.197-1744… XM_047431146.1:c.197-17440_197-17439del	N/A	Intron Variant

Gene: SAMD4A-AS1, uncharacterized SAMD4A-AS1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SAMD4A-AS1 transcript variant X1	XR_429363.5:n.798_799del	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X1	XR_429363.5:n.799del	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X1	XR_429363.5:n.799dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X1	XR_429363.5:n.798_799dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X1	XR_429363.5:n.797_799dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X1	XR_429363.5:n.796_799dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X1	XR_429363.5:n.795_799dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X2	XR_943885.4:n.782_783del	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X2	XR_943885.4:n.783del	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X2	XR_943885.4:n.783dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X2	XR_943885.4:n.782_783dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X2	XR_943885.4:n.781_783dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X2	XR_943885.4:n.780_783dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X2	XR_943885.4:n.779_783dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X3	XR_943887.2:n.1493_1494del	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X3	XR_943887.2:n.1494del	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X3	XR_943887.2:n.1494dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X3	XR_943887.2:n.1493_1494dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X3	XR_943887.2:n.1492_1494dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X3	XR_943887.2:n.1491_1494dup	N/A	Non Coding Transcript Variant
SAMD4A-AS1 transcript variant X3	XR_943887.2:n.1490_1494dup	N/A	Non Coding 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	(C)₁₁=	delCC	delC	dupC	dupCC	dupCCC	dup(C)₄	dup(C)₅
GRCh38.p14 chr 14	NC_000014.9:g.54684613_54684623=	NC_000014.9:g.54684622_54684623del	NC_000014.9:g.54684623del	NC_000014.9:g.54684623dup	NC_000014.9:g.54684622_54684623dup	NC_000014.9:g.54684621_54684623dup	NC_000014.9:g.54684620_54684623dup	NC_000014.9:g.54684619_54684623dup
GRCh37.p13 chr 14	NC_000014.8:g.55151331_55151341=	NC_000014.8:g.55151340_55151341del	NC_000014.8:g.55151341del	NC_000014.8:g.55151341dup	NC_000014.8:g.55151340_55151341dup	NC_000014.8:g.55151339_55151341dup	NC_000014.8:g.55151338_55151341dup	NC_000014.8:g.55151337_55151341dup
SAMD4A-AS1 transcript variant X1	XR_429363.5:n.789_799=	XR_429363.5:n.798_799del	XR_429363.5:n.799del	XR_429363.5:n.799dup	XR_429363.5:n.798_799dup	XR_429363.5:n.797_799dup	XR_429363.5:n.796_799dup	XR_429363.5:n.795_799dup
LOC729451 transcript variant X1	XR_429363.4:n.1125_1135=	XR_429363.4:n.1134_1135del	XR_429363.4:n.1135del	XR_429363.4:n.1135dup	XR_429363.4:n.1134_1135dup	XR_429363.4:n.1133_1135dup	XR_429363.4:n.1132_1135dup	XR_429363.4:n.1131_1135dup
LOC729451 transcript variant X1	XR_429363.3:n.1079_1089=	XR_429363.3:n.1088_1089del	XR_429363.3:n.1089del	XR_429363.3:n.1089dup	XR_429363.3:n.1088_1089dup	XR_429363.3:n.1087_1089dup	XR_429363.3:n.1086_1089dup	XR_429363.3:n.1085_1089dup
LOC729451 transcript variant X1	XR_429363.2:n.1137_1147=	XR_429363.2:n.1146_1147del	XR_429363.2:n.1147del	XR_429363.2:n.1147dup	XR_429363.2:n.1146_1147dup	XR_429363.2:n.1145_1147dup	XR_429363.2:n.1144_1147dup	XR_429363.2:n.1143_1147dup
SAMD4A-AS1 transcript variant X2	XR_943885.4:n.773_783=	XR_943885.4:n.782_783del	XR_943885.4:n.783del	XR_943885.4:n.783dup	XR_943885.4:n.782_783dup	XR_943885.4:n.781_783dup	XR_943885.4:n.780_783dup	XR_943885.4:n.779_783dup
LOC729451 transcript variant X2	XR_943885.3:n.1093_1103=	XR_943885.3:n.1102_1103del	XR_943885.3:n.1103del	XR_943885.3:n.1103dup	XR_943885.3:n.1102_1103dup	XR_943885.3:n.1101_1103dup	XR_943885.3:n.1100_1103dup	XR_943885.3:n.1099_1103dup
LOC729451 transcript variant X2	XR_943885.2:n.1063_1073=	XR_943885.2:n.1072_1073del	XR_943885.2:n.1073del	XR_943885.2:n.1073dup	XR_943885.2:n.1072_1073dup	XR_943885.2:n.1071_1073dup	XR_943885.2:n.1070_1073dup	XR_943885.2:n.1069_1073dup
LOC729451 transcript variant X2	XR_943885.1:n.1115_1125=	XR_943885.1:n.1124_1125del	XR_943885.1:n.1125del	XR_943885.1:n.1125dup	XR_943885.1:n.1124_1125dup	XR_943885.1:n.1123_1125dup	XR_943885.1:n.1122_1125dup	XR_943885.1:n.1121_1125dup
SAMD4A-AS1 transcript variant X3	XR_943887.2:n.1484_1494=	XR_943887.2:n.1493_1494del	XR_943887.2:n.1494del	XR_943887.2:n.1494dup	XR_943887.2:n.1493_1494dup	XR_943887.2:n.1492_1494dup	XR_943887.2:n.1491_1494dup	XR_943887.2:n.1490_1494dup
LOC729451 transcript variant X3	XR_943887.1:n.1484_1494=	XR_943887.1:n.1493_1494del	XR_943887.1:n.1494del	XR_943887.1:n.1494dup	XR_943887.1:n.1493_1494dup	XR_943887.1:n.1492_1494dup	XR_943887.1:n.1491_1494dup	XR_943887.1:n.1490_1494dup
SAMD4A transcript variant 2	NM_001161576.2:c.197-17449=	NM_001161576.2:c.197-17440_197-17439del	NM_001161576.2:c.197-17439del	NM_001161576.2:c.197-17439dup	NM_001161576.2:c.197-17440_197-17439dup	NM_001161576.2:c.197-17441_197-17439dup	NM_001161576.2:c.197-17442_197-17439dup	NM_001161576.2:c.197-17443_197-17439dup
SAMD4A transcript variant 1	NM_015589.5:c.197-17449=	NM_015589.5:c.197-17440_197-17439del	NM_015589.5:c.197-17439del	NM_015589.5:c.197-17439dup	NM_015589.5:c.197-17440_197-17439dup	NM_015589.5:c.197-17441_197-17439dup	NM_015589.5:c.197-17442_197-17439dup	NM_015589.5:c.197-17443_197-17439dup
SAMD4A transcript variant 1	NM_015589.6:c.197-17449=	NM_015589.6:c.197-17440_197-17439del	NM_015589.6:c.197-17439del	NM_015589.6:c.197-17439dup	NM_015589.6:c.197-17440_197-17439dup	NM_015589.6:c.197-17441_197-17439dup	NM_015589.6:c.197-17442_197-17439dup	NM_015589.6:c.197-17443_197-17439dup
SAMD4A transcript variant X1	XM_005267432.1:c.197-17449=	XM_005267432.1:c.197-17440_197-17439del	XM_005267432.1:c.197-17439del	XM_005267432.1:c.197-17439dup	XM_005267432.1:c.197-17440_197-17439dup	XM_005267432.1:c.197-17441_197-17439dup	XM_005267432.1:c.197-17442_197-17439dup	XM_005267432.1:c.197-17443_197-17439dup
SAMD4A transcript variant X2	XM_005267433.1:c.197-17449=	XM_005267433.1:c.197-17440_197-17439del	XM_005267433.1:c.197-17439del	XM_005267433.1:c.197-17439dup	XM_005267433.1:c.197-17440_197-17439dup	XM_005267433.1:c.197-17441_197-17439dup	XM_005267433.1:c.197-17442_197-17439dup	XM_005267433.1:c.197-17443_197-17439dup
SAMD4A transcript variant X4	XM_005267435.1:c.197-17449=	XM_005267435.1:c.197-17440_197-17439del	XM_005267435.1:c.197-17439del	XM_005267435.1:c.197-17439dup	XM_005267435.1:c.197-17440_197-17439dup	XM_005267435.1:c.197-17441_197-17439dup	XM_005267435.1:c.197-17442_197-17439dup	XM_005267435.1:c.197-17443_197-17439dup
SAMD4A transcript variant X6	XM_005267437.1:c.-108+2556=	XM_005267437.1:c.-108+2565_-108+2566del	XM_005267437.1:c.-108+2566del	XM_005267437.1:c.-108+2566dup	XM_005267437.1:c.-108+2565_-108+2566dup	XM_005267437.1:c.-108+2564_-108+2566dup	XM_005267437.1:c.-108+2563_-108+2566dup	XM_005267437.1:c.-108+2562_-108+2566dup
SAMD4A transcript variant X2	XM_024449514.2:c.197-17449=	XM_024449514.2:c.197-17440_197-17439del	XM_024449514.2:c.197-17439del	XM_024449514.2:c.197-17439dup	XM_024449514.2:c.197-17440_197-17439dup	XM_024449514.2:c.197-17441_197-17439dup	XM_024449514.2:c.197-17442_197-17439dup	XM_024449514.2:c.197-17443_197-17439dup
SAMD4A transcript variant X3	XM_024449515.2:c.197-17449=	XM_024449515.2:c.197-17440_197-17439del	XM_024449515.2:c.197-17439del	XM_024449515.2:c.197-17439dup	XM_024449515.2:c.197-17440_197-17439dup	XM_024449515.2:c.197-17441_197-17439dup	XM_024449515.2:c.197-17442_197-17439dup	XM_024449515.2:c.197-17443_197-17439dup
SAMD4A transcript variant X5	XM_024449516.2:c.197-17449=	XM_024449516.2:c.197-17440_197-17439del	XM_024449516.2:c.197-17439del	XM_024449516.2:c.197-17439dup	XM_024449516.2:c.197-17440_197-17439dup	XM_024449516.2:c.197-17441_197-17439dup	XM_024449516.2:c.197-17442_197-17439dup	XM_024449516.2:c.197-17443_197-17439dup
SAMD4A transcript variant X1	XM_047431136.1:c.197-17449=	XM_047431136.1:c.197-17440_197-17439del	XM_047431136.1:c.197-17439del	XM_047431136.1:c.197-17439dup	XM_047431136.1:c.197-17440_197-17439dup	XM_047431136.1:c.197-17441_197-17439dup	XM_047431136.1:c.197-17442_197-17439dup	XM_047431136.1:c.197-17443_197-17439dup
SAMD4A transcript variant X4	XM_047431137.1:c.197-17449=	XM_047431137.1:c.197-17440_197-17439del	XM_047431137.1:c.197-17439del	XM_047431137.1:c.197-17439dup	XM_047431137.1:c.197-17440_197-17439dup	XM_047431137.1:c.197-17441_197-17439dup	XM_047431137.1:c.197-17442_197-17439dup	XM_047431137.1:c.197-17443_197-17439dup
SAMD4A transcript variant X6	XM_047431138.1:c.197-17449=	XM_047431138.1:c.197-17440_197-17439del	XM_047431138.1:c.197-17439del	XM_047431138.1:c.197-17439dup	XM_047431138.1:c.197-17440_197-17439dup	XM_047431138.1:c.197-17441_197-17439dup	XM_047431138.1:c.197-17442_197-17439dup	XM_047431138.1:c.197-17443_197-17439dup
SAMD4A transcript variant X7	XM_047431139.1:c.197-17449=	XM_047431139.1:c.197-17440_197-17439del	XM_047431139.1:c.197-17439del	XM_047431139.1:c.197-17439dup	XM_047431139.1:c.197-17440_197-17439dup	XM_047431139.1:c.197-17441_197-17439dup	XM_047431139.1:c.197-17442_197-17439dup	XM_047431139.1:c.197-17443_197-17439dup
SAMD4A transcript variant X8	XM_047431140.1:c.197-17449=	XM_047431140.1:c.197-17440_197-17439del	XM_047431140.1:c.197-17439del	XM_047431140.1:c.197-17439dup	XM_047431140.1:c.197-17440_197-17439dup	XM_047431140.1:c.197-17441_197-17439dup	XM_047431140.1:c.197-17442_197-17439dup	XM_047431140.1:c.197-17443_197-17439dup
SAMD4A transcript variant X9	XM_047431141.1:c.197-17449=	XM_047431141.1:c.197-17440_197-17439del	XM_047431141.1:c.197-17439del	XM_047431141.1:c.197-17439dup	XM_047431141.1:c.197-17440_197-17439dup	XM_047431141.1:c.197-17441_197-17439dup	XM_047431141.1:c.197-17442_197-17439dup	XM_047431141.1:c.197-17443_197-17439dup
SAMD4A transcript variant X10	XM_047431142.1:c.-108+2556=	XM_047431142.1:c.-108+2565_-108+2566del	XM_047431142.1:c.-108+2566del	XM_047431142.1:c.-108+2566dup	XM_047431142.1:c.-108+2565_-108+2566dup	XM_047431142.1:c.-108+2564_-108+2566dup	XM_047431142.1:c.-108+2563_-108+2566dup	XM_047431142.1:c.-108+2562_-108+2566dup
SAMD4A transcript variant X11	XM_047431143.1:c.197-17449=	XM_047431143.1:c.197-17440_197-17439del	XM_047431143.1:c.197-17439del	XM_047431143.1:c.197-17439dup	XM_047431143.1:c.197-17440_197-17439dup	XM_047431143.1:c.197-17441_197-17439dup	XM_047431143.1:c.197-17442_197-17439dup	XM_047431143.1:c.197-17443_197-17439dup
SAMD4A transcript variant X12	XM_047431144.1:c.197-17449=	XM_047431144.1:c.197-17440_197-17439del	XM_047431144.1:c.197-17439del	XM_047431144.1:c.197-17439dup	XM_047431144.1:c.197-17440_197-17439dup	XM_047431144.1:c.197-17441_197-17439dup	XM_047431144.1:c.197-17442_197-17439dup	XM_047431144.1:c.197-17443_197-17439dup
SAMD4A transcript variant X13	XM_047431145.1:c.197-17449=	XM_047431145.1:c.197-17440_197-17439del	XM_047431145.1:c.197-17439del	XM_047431145.1:c.197-17439dup	XM_047431145.1:c.197-17440_197-17439dup	XM_047431145.1:c.197-17441_197-17439dup	XM_047431145.1:c.197-17442_197-17439dup	XM_047431145.1:c.197-17443_197-17439dup
SAMD4A transcript variant X14	XM_047431146.1:c.197-17449=	XM_047431146.1:c.197-17440_197-17439del	XM_047431146.1:c.197-17439del	XM_047431146.1:c.197-17439dup	XM_047431146.1:c.197-17440_197-17439dup	XM_047431146.1:c.197-17441_197-17439dup	XM_047431146.1:c.197-17442_197-17439dup	XM_047431146.1:c.197-17443_197-17439dup

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#.

32 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80156189	Oct 12, 2018 (152)
2	EVA_UK10K_ALSPAC	ss1708064452	Apr 01, 2015 (144)
3	EVA_UK10K_ALSPAC	ss1708064454	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1708064456	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1708064458	Oct 12, 2018 (152)
6	EVA_UK10K_TWINSUK	ss1708064459	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1708064467	Oct 12, 2018 (152)
8	SYSTEMSBIOZJU	ss2628514732	Nov 08, 2017 (151)
9	EVA_DECODE	ss3696718254	Jul 13, 2019 (153)
10	EVA_DECODE	ss3696718255	Jul 13, 2019 (153)
11	EVA_DECODE	ss3696718256	Jul 13, 2019 (153)
12	EVA_DECODE	ss3696718257	Jul 13, 2019 (153)
13	EVA_DECODE	ss3696718262	Jul 13, 2019 (153)
14	ACPOP	ss3740399316	Jul 13, 2019 (153)
15	EVA	ss3833929789	Apr 27, 2020 (154)
16	KOGIC	ss3974966915	Apr 27, 2020 (154)
17	KOGIC	ss3974966916	Apr 27, 2020 (154)
18	GNOMAD	ss4278396079	Apr 26, 2021 (155)
19	GNOMAD	ss4278396080	Apr 26, 2021 (155)
20	GNOMAD	ss4278396081	Apr 26, 2021 (155)
21	GNOMAD	ss4278396082	Apr 26, 2021 (155)
22	GNOMAD	ss4278396083	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5213323267	Apr 26, 2021 (155)
24	TOMMO_GENOMICS	ss5213323268	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5213323269	Apr 26, 2021 (155)
26	HUGCELL_USP	ss5490330607	Oct 16, 2022 (156)
27	HUGCELL_USP	ss5490330608	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5490330610	Oct 16, 2022 (156)
29	TOMMO_GENOMICS	ss5766151890	Oct 16, 2022 (156)
30	TOMMO_GENOMICS	ss5766151891	Oct 16, 2022 (156)
31	TOMMO_GENOMICS	ss5766151892	Oct 16, 2022 (156)
32	EVA	ss5901421444	Oct 16, 2022 (156)
33	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 35588532 (NC_000014.8:55151330::CCCC 2959/3854) Row 35588533 (NC_000014.8:55151330::CCCCC 59/3854) Row 35588536 (NC_000014.8:55151336::CCCC 2726/3854)	-	Oct 12, 2018 (152)
34	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 35588532 (NC_000014.8:55151330::CCCC 2959/3854) Row 35588533 (NC_000014.8:55151330::CCCCC 59/3854) Row 35588536 (NC_000014.8:55151336::CCCC 2726/3854)	-	Oct 12, 2018 (152)
35	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 35588532 (NC_000014.8:55151330::CCCC 2959/3854) Row 35588533 (NC_000014.8:55151330::CCCCC 59/3854) Row 35588536 (NC_000014.8:55151336::CCCC 2726/3854)	-	Oct 12, 2018 (152)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451767187 (NC_000014.9:54684612::C 1629/76716) Row 451767188 (NC_000014.9:54684612::CC 330/76742) Row 451767189 (NC_000014.9:54684612::CCC 2/76798)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451767187 (NC_000014.9:54684612::C 1629/76716) Row 451767188 (NC_000014.9:54684612::CC 330/76742) Row 451767189 (NC_000014.9:54684612::CCC 2/76798)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451767187 (NC_000014.9:54684612::C 1629/76716) Row 451767188 (NC_000014.9:54684612::CC 330/76742) Row 451767189 (NC_000014.9:54684612::CCC 2/76798)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451767187 (NC_000014.9:54684612::C 1629/76716) Row 451767188 (NC_000014.9:54684612::CC 330/76742) Row 451767189 (NC_000014.9:54684612::CCC 2/76798)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 451767187 (NC_000014.9:54684612::C 1629/76716) Row 451767188 (NC_000014.9:54684612::CC 330/76742) Row 451767189 (NC_000014.9:54684612::CCC 2/76798)...	-	Apr 26, 2021 (155)
41	Korean Genome Project Submission ignored due to conflicting rows: Row 31344916 (NC_000014.9:54684612:C: 8/1682) Row 31344917 (NC_000014.9:54684613::C 19/1682)	-	Apr 27, 2020 (154)
42	Korean Genome Project Submission ignored due to conflicting rows: Row 31344916 (NC_000014.9:54684612:C: 8/1682) Row 31344917 (NC_000014.9:54684613::C 19/1682)	-	Apr 27, 2020 (154)
43	Northern Sweden	NC_000014.8 - 55151331	Jul 13, 2019 (153)
44	8.3KJPN Submission ignored due to conflicting rows: Row 71292574 (NC_000014.8:55151330:C: 30/14112) Row 71292575 (NC_000014.8:55151330::C 83/14112) Row 71292576 (NC_000014.8:55151330::CC 2/14112)	-	Apr 26, 2021 (155)
45	8.3KJPN Submission ignored due to conflicting rows: Row 71292574 (NC_000014.8:55151330:C: 30/14112) Row 71292575 (NC_000014.8:55151330::C 83/14112) Row 71292576 (NC_000014.8:55151330::CC 2/14112)	-	Apr 26, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 71292574 (NC_000014.8:55151330:C: 30/14112) Row 71292575 (NC_000014.8:55151330::C 83/14112) Row 71292576 (NC_000014.8:55151330::CC 2/14112)	-	Apr 26, 2021 (155)
47	14KJPN Submission ignored due to conflicting rows: Row 99988994 (NC_000014.9:54684612:C: 64/27892) Row 99988995 (NC_000014.9:54684612::C 195/27892) Row 99988996 (NC_000014.9:54684612::CC 3/27892)	-	Oct 16, 2022 (156)
48	14KJPN Submission ignored due to conflicting rows: Row 99988994 (NC_000014.9:54684612:C: 64/27892) Row 99988995 (NC_000014.9:54684612::C 195/27892) Row 99988996 (NC_000014.9:54684612::CC 3/27892)	-	Oct 16, 2022 (156)
49	14KJPN Submission ignored due to conflicting rows: Row 99988994 (NC_000014.9:54684612:C: 64/27892) Row 99988995 (NC_000014.9:54684612::C 195/27892) Row 99988996 (NC_000014.9:54684612::CC 3/27892)	-	Oct 16, 2022 (156)
50	UK 10K study - Twins Submission ignored due to conflicting rows: Row 35588532 (NC_000014.8:55151330::CCCC 2864/3708) Row 35588533 (NC_000014.8:55151330::CCCCC 22/3708) Row 35588536 (NC_000014.8:55151336::CCCC 2671/3708)	-	Oct 12, 2018 (152)
51	UK 10K study - Twins Submission ignored due to conflicting rows: Row 35588532 (NC_000014.8:55151330::CCCC 2864/3708) Row 35588533 (NC_000014.8:55151330::CCCCC 22/3708) Row 35588536 (NC_000014.8:55151336::CCCC 2671/3708)	-	Oct 12, 2018 (152)
52	UK 10K study - Twins Submission ignored due to conflicting rows: Row 35588532 (NC_000014.8:55151330::CCCC 2864/3708) Row 35588533 (NC_000014.8:55151330::CCCCC 22/3708) Row 35588536 (NC_000014.8:55151336::CCCC 2671/3708)	-	Oct 12, 2018 (152)
53	ALFA	NC_000014.9 - 54684613	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3696718257, ss4278396083	NC_000014.9:54684612:CC:	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCC	(self)
7170082105	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCC	(self)
13684181, ss3740399316, ss5213323267	NC_000014.8:55151330:C:	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCC	(self)
ss3974966915, ss4278396082, ss5490330607, ss5766151890	NC_000014.9:54684612:C:	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCC	(self)
7170082105	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCC	(self)
ss3696718256	NC_000014.9:54684613:C:	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCC	(self)
ss2628514732, ss3833929789, ss5213323268	NC_000014.8:55151330::C	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss4278396079, ss5490330608, ss5766151891	NC_000014.9:54684612::C	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
7170082105	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3974966916	NC_000014.9:54684613::C	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss3696718255	NC_000014.9:54684614::C	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss80156189	NT_026437.12:36151341::C	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCC	(self)
ss5213323269	NC_000014.8:55151330::CC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss4278396080, ss5490330610, ss5766151892	NC_000014.9:54684612::CC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCC	(self)
7170082105	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCC	(self)
ss4278396081	NC_000014.9:54684612::CCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
7170082105	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCCC	(self)
ss1708064452, ss1708064456	NC_000014.8:55151330::CCCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCCCC	(self)
ss1708064458, ss1708064467	NC_000014.8:55151336::CCCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCCCC	(self)
ss5901421444	NC_000014.9:54684612::CCCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCCCC
ss3696718254	NC_000014.9:54684614::CCCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCCCC	(self)
ss3696718262	NC_000014.9:54684617::CCCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCCCC	(self)
ss1708064454, ss1708064459	NC_000014.8:55151330::CCCCC	NC_000014.9:54684612:CCCCCCCCCCC:C… NC_000014.9:54684612:CCCCCCCCCCC:CCCCCCCCCCCCCCCC	(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 rs780497625

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
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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

rs780497625