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dbSNP Short Genetic Variations

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.

rs35673511

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:6358860-6358879 (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(A)12 / del(A)11 / del(A)6 / de…

del(A)12 / del(A)11 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6

Variation Type
Indel Insertion and Deletion
Frequency
dup(A)4=0.000004 (1/264690, TOPMED)
delA=0.05678 (571/10056, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SCNN1A : 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 10056 AAAAAAAAAAAAAAAAAAAA=0.92611 AAAAAAAA=0.00000, AAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00010, AAAAAAAAAAAAAAAAAA=0.01154, AAAAAAAAAAAAAAAAAAA=0.05678, AAAAAAAAAAAAAAAAAAAAA=0.00477, AAAAAAAAAAAAAAAAAAAAAAA=0.00070, AAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAA=0.00000 0.897135 0.008658 0.094207 29
European Sub 9052 AAAAAAAAAAAAAAAAAAAA=0.9181 AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0001, AAAAAAAAAAAAAAAAAA=0.0127, AAAAAAAAAAAAAAAAAAA=0.0631, AAAAAAAAAAAAAAAAAAAAA=0.0052, AAAAAAAAAAAAAAAAAAAAAAA=0.0008, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000 0.885314 0.009653 0.105033 23
African Sub 186 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 0 AAAAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African American Sub 186 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 46 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 38 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 8 AAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 84 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 406 AAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 40 AAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 242 AAAAAAAAAAAAAAAAAAAA=0.992 AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.004, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.004, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 -

No frequency provided

dup(A)4=0.000004
Allele Frequency Aggregator Total Global 10056 (A)20=0.92611 del(A)12=0.00000, del(A)11=0.00000, del(A)6=0.00000, del(A)5=0.00000, del(A)4=0.00000, delAAA=0.00010, delAA=0.01154, delA=0.05678, dupA=0.00477, dupAA=0.00000, dupAAA=0.00070, dup(A)4=0.00000
Allele Frequency Aggregator European Sub 9052 (A)20=0.9181 del(A)12=0.0000, del(A)11=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0001, delAA=0.0127, delA=0.0631, dupA=0.0052, dupAA=0.0000, dupAAA=0.0008, dup(A)4=0.0000
Allele Frequency Aggregator Latin American 2 Sub 406 (A)20=1.000 del(A)12=0.000, del(A)11=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Other Sub 242 (A)20=0.992 del(A)12=0.000, del(A)11=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.004, delA=0.000, dupA=0.004, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator African Sub 186 (A)20=1.000 del(A)12=0.000, del(A)11=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Latin American 1 Sub 84 (A)20=1.00 del(A)12=0.00, del(A)11=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator Asian Sub 46 (A)20=1.00 del(A)12=0.00, del(A)11=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator South Asian Sub 40 (A)20=1.00 del(A)12=0.00, del(A)11=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Help

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 12 NC_000012.12:g.6358868_6358879del
GRCh38.p14 chr 12 NC_000012.12:g.6358869_6358879del
GRCh38.p14 chr 12 NC_000012.12:g.6358874_6358879del
GRCh38.p14 chr 12 NC_000012.12:g.6358875_6358879del
GRCh38.p14 chr 12 NC_000012.12:g.6358876_6358879del
GRCh38.p14 chr 12 NC_000012.12:g.6358877_6358879del
GRCh38.p14 chr 12 NC_000012.12:g.6358878_6358879del
GRCh38.p14 chr 12 NC_000012.12:g.6358879del
GRCh38.p14 chr 12 NC_000012.12:g.6358879dup
GRCh38.p14 chr 12 NC_000012.12:g.6358878_6358879dup
GRCh38.p14 chr 12 NC_000012.12:g.6358877_6358879dup
GRCh38.p14 chr 12 NC_000012.12:g.6358876_6358879dup
GRCh38.p14 chr 12 NC_000012.12:g.6358875_6358879dup
GRCh38.p14 chr 12 NC_000012.12:g.6358874_6358879dup
GRCh37.p13 chr 12 NC_000012.11:g.6468034_6468045del
GRCh37.p13 chr 12 NC_000012.11:g.6468035_6468045del
GRCh37.p13 chr 12 NC_000012.11:g.6468040_6468045del
GRCh37.p13 chr 12 NC_000012.11:g.6468041_6468045del
GRCh37.p13 chr 12 NC_000012.11:g.6468042_6468045del
GRCh37.p13 chr 12 NC_000012.11:g.6468043_6468045del
GRCh37.p13 chr 12 NC_000012.11:g.6468044_6468045del
GRCh37.p13 chr 12 NC_000012.11:g.6468045del
GRCh37.p13 chr 12 NC_000012.11:g.6468045dup
GRCh37.p13 chr 12 NC_000012.11:g.6468044_6468045dup
GRCh37.p13 chr 12 NC_000012.11:g.6468043_6468045dup
GRCh37.p13 chr 12 NC_000012.11:g.6468042_6468045dup
GRCh37.p13 chr 12 NC_000012.11:g.6468041_6468045dup
GRCh37.p13 chr 12 NC_000012.11:g.6468040_6468045dup
SCNN1A RefSeqGene NG_011945.2:g.23487_23498del
SCNN1A RefSeqGene NG_011945.2:g.23488_23498del
SCNN1A RefSeqGene NG_011945.2:g.23493_23498del
SCNN1A RefSeqGene NG_011945.2:g.23494_23498del
SCNN1A RefSeqGene NG_011945.2:g.23495_23498del
SCNN1A RefSeqGene NG_011945.2:g.23496_23498del
SCNN1A RefSeqGene NG_011945.2:g.23497_23498del
SCNN1A RefSeqGene NG_011945.2:g.23498del
SCNN1A RefSeqGene NG_011945.2:g.23498dup
SCNN1A RefSeqGene NG_011945.2:g.23497_23498dup
SCNN1A RefSeqGene NG_011945.2:g.23496_23498dup
SCNN1A RefSeqGene NG_011945.2:g.23495_23498dup
SCNN1A RefSeqGene NG_011945.2:g.23494_23498dup
SCNN1A RefSeqGene NG_011945.2:g.23493_23498dup
Gene: SCNN1A, sodium channel epithelial 1 subunit alpha (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SCNN1A transcript variant 1 NM_001038.6:c.876-2991_87…

NM_001038.6:c.876-2991_876-2980del

N/A Intron Variant
SCNN1A transcript variant 3 NM_001159575.2:c.945-2991…

NM_001159575.2:c.945-2991_945-2980del

N/A Intron Variant
SCNN1A transcript variant 2 NM_001159576.2:c.1053-299…

NM_001159576.2:c.1053-2991_1053-2980del

N/A Intron Variant
Help

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
Help

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 (A)20= del(A)12 del(A)11 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6
GRCh38.p14 chr 12 NC_000012.12:g.6358860_6358879= NC_000012.12:g.6358868_6358879del NC_000012.12:g.6358869_6358879del NC_000012.12:g.6358874_6358879del NC_000012.12:g.6358875_6358879del NC_000012.12:g.6358876_6358879del NC_000012.12:g.6358877_6358879del NC_000012.12:g.6358878_6358879del NC_000012.12:g.6358879del NC_000012.12:g.6358879dup NC_000012.12:g.6358878_6358879dup NC_000012.12:g.6358877_6358879dup NC_000012.12:g.6358876_6358879dup NC_000012.12:g.6358875_6358879dup NC_000012.12:g.6358874_6358879dup
GRCh37.p13 chr 12 NC_000012.11:g.6468026_6468045= NC_000012.11:g.6468034_6468045del NC_000012.11:g.6468035_6468045del NC_000012.11:g.6468040_6468045del NC_000012.11:g.6468041_6468045del NC_000012.11:g.6468042_6468045del NC_000012.11:g.6468043_6468045del NC_000012.11:g.6468044_6468045del NC_000012.11:g.6468045del NC_000012.11:g.6468045dup NC_000012.11:g.6468044_6468045dup NC_000012.11:g.6468043_6468045dup NC_000012.11:g.6468042_6468045dup NC_000012.11:g.6468041_6468045dup NC_000012.11:g.6468040_6468045dup
SCNN1A RefSeqGene NG_011945.2:g.23479_23498= NG_011945.2:g.23487_23498del NG_011945.2:g.23488_23498del NG_011945.2:g.23493_23498del NG_011945.2:g.23494_23498del NG_011945.2:g.23495_23498del NG_011945.2:g.23496_23498del NG_011945.2:g.23497_23498del NG_011945.2:g.23498del NG_011945.2:g.23498dup NG_011945.2:g.23497_23498dup NG_011945.2:g.23496_23498dup NG_011945.2:g.23495_23498dup NG_011945.2:g.23494_23498dup NG_011945.2:g.23493_23498dup
SCNN1A transcript variant 1 NM_001038.5:c.876-2980= NM_001038.5:c.876-2991_876-2980del NM_001038.5:c.876-2990_876-2980del NM_001038.5:c.876-2985_876-2980del NM_001038.5:c.876-2984_876-2980del NM_001038.5:c.876-2983_876-2980del NM_001038.5:c.876-2982_876-2980del NM_001038.5:c.876-2981_876-2980del NM_001038.5:c.876-2980del NM_001038.5:c.876-2980dup NM_001038.5:c.876-2981_876-2980dup NM_001038.5:c.876-2982_876-2980dup NM_001038.5:c.876-2983_876-2980dup NM_001038.5:c.876-2984_876-2980dup NM_001038.5:c.876-2985_876-2980dup
SCNN1A transcript variant 1 NM_001038.6:c.876-2980= NM_001038.6:c.876-2991_876-2980del NM_001038.6:c.876-2990_876-2980del NM_001038.6:c.876-2985_876-2980del NM_001038.6:c.876-2984_876-2980del NM_001038.6:c.876-2983_876-2980del NM_001038.6:c.876-2982_876-2980del NM_001038.6:c.876-2981_876-2980del NM_001038.6:c.876-2980del NM_001038.6:c.876-2980dup NM_001038.6:c.876-2981_876-2980dup NM_001038.6:c.876-2982_876-2980dup NM_001038.6:c.876-2983_876-2980dup NM_001038.6:c.876-2984_876-2980dup NM_001038.6:c.876-2985_876-2980dup
SCNN1A transcript variant 3 NM_001159575.1:c.945-2980= NM_001159575.1:c.945-2991_945-2980del NM_001159575.1:c.945-2990_945-2980del NM_001159575.1:c.945-2985_945-2980del NM_001159575.1:c.945-2984_945-2980del NM_001159575.1:c.945-2983_945-2980del NM_001159575.1:c.945-2982_945-2980del NM_001159575.1:c.945-2981_945-2980del NM_001159575.1:c.945-2980del NM_001159575.1:c.945-2980dup NM_001159575.1:c.945-2981_945-2980dup NM_001159575.1:c.945-2982_945-2980dup NM_001159575.1:c.945-2983_945-2980dup NM_001159575.1:c.945-2984_945-2980dup NM_001159575.1:c.945-2985_945-2980dup
SCNN1A transcript variant 3 NM_001159575.2:c.945-2980= NM_001159575.2:c.945-2991_945-2980del NM_001159575.2:c.945-2990_945-2980del NM_001159575.2:c.945-2985_945-2980del NM_001159575.2:c.945-2984_945-2980del NM_001159575.2:c.945-2983_945-2980del NM_001159575.2:c.945-2982_945-2980del NM_001159575.2:c.945-2981_945-2980del NM_001159575.2:c.945-2980del NM_001159575.2:c.945-2980dup NM_001159575.2:c.945-2981_945-2980dup NM_001159575.2:c.945-2982_945-2980dup NM_001159575.2:c.945-2983_945-2980dup NM_001159575.2:c.945-2984_945-2980dup NM_001159575.2:c.945-2985_945-2980dup
SCNN1A transcript variant 2 NM_001159576.1:c.1053-2980= NM_001159576.1:c.1053-2991_1053-2980del NM_001159576.1:c.1053-2990_1053-2980del NM_001159576.1:c.1053-2985_1053-2980del NM_001159576.1:c.1053-2984_1053-2980del NM_001159576.1:c.1053-2983_1053-2980del NM_001159576.1:c.1053-2982_1053-2980del NM_001159576.1:c.1053-2981_1053-2980del NM_001159576.1:c.1053-2980del NM_001159576.1:c.1053-2980dup NM_001159576.1:c.1053-2981_1053-2980dup NM_001159576.1:c.1053-2982_1053-2980dup NM_001159576.1:c.1053-2983_1053-2980dup NM_001159576.1:c.1053-2984_1053-2980dup NM_001159576.1:c.1053-2985_1053-2980dup
SCNN1A transcript variant 2 NM_001159576.2:c.1053-2980= NM_001159576.2:c.1053-2991_1053-2980del NM_001159576.2:c.1053-2990_1053-2980del NM_001159576.2:c.1053-2985_1053-2980del NM_001159576.2:c.1053-2984_1053-2980del NM_001159576.2:c.1053-2983_1053-2980del NM_001159576.2:c.1053-2982_1053-2980del NM_001159576.2:c.1053-2981_1053-2980del NM_001159576.2:c.1053-2980del NM_001159576.2:c.1053-2980dup NM_001159576.2:c.1053-2981_1053-2980dup NM_001159576.2:c.1053-2982_1053-2980dup NM_001159576.2:c.1053-2983_1053-2980dup NM_001159576.2:c.1053-2984_1053-2980dup NM_001159576.2:c.1053-2985_1053-2980dup
SCNN1A transcript variant X1 XM_005253728.1:c.1161-2980= XM_005253728.1:c.1161-2991_1161-2980del XM_005253728.1:c.1161-2990_1161-2980del XM_005253728.1:c.1161-2985_1161-2980del XM_005253728.1:c.1161-2984_1161-2980del XM_005253728.1:c.1161-2983_1161-2980del XM_005253728.1:c.1161-2982_1161-2980del XM_005253728.1:c.1161-2981_1161-2980del XM_005253728.1:c.1161-2980del XM_005253728.1:c.1161-2980dup XM_005253728.1:c.1161-2981_1161-2980dup XM_005253728.1:c.1161-2982_1161-2980dup XM_005253728.1:c.1161-2983_1161-2980dup XM_005253728.1:c.1161-2984_1161-2980dup XM_005253728.1:c.1161-2985_1161-2980dup
SCNN1A transcript variant X2 XM_005253729.1:c.945-2980= XM_005253729.1:c.945-2991_945-2980del XM_005253729.1:c.945-2990_945-2980del XM_005253729.1:c.945-2985_945-2980del XM_005253729.1:c.945-2984_945-2980del XM_005253729.1:c.945-2983_945-2980del XM_005253729.1:c.945-2982_945-2980del XM_005253729.1:c.945-2981_945-2980del XM_005253729.1:c.945-2980del XM_005253729.1:c.945-2980dup XM_005253729.1:c.945-2981_945-2980dup XM_005253729.1:c.945-2982_945-2980dup XM_005253729.1:c.945-2983_945-2980dup XM_005253729.1:c.945-2984_945-2980dup XM_005253729.1:c.945-2985_945-2980dup
SCNN1A transcript variant X3 XM_005253730.1:c.939-2980= XM_005253730.1:c.939-2991_939-2980del XM_005253730.1:c.939-2990_939-2980del XM_005253730.1:c.939-2985_939-2980del XM_005253730.1:c.939-2984_939-2980del XM_005253730.1:c.939-2983_939-2980del XM_005253730.1:c.939-2982_939-2980del XM_005253730.1:c.939-2981_939-2980del XM_005253730.1:c.939-2980del XM_005253730.1:c.939-2980dup XM_005253730.1:c.939-2981_939-2980dup XM_005253730.1:c.939-2982_939-2980dup XM_005253730.1:c.939-2983_939-2980dup XM_005253730.1:c.939-2984_939-2980dup XM_005253730.1:c.939-2985_939-2980dup
SCNN1A transcript variant X4 XM_005253731.1:c.876-2980= XM_005253731.1:c.876-2991_876-2980del XM_005253731.1:c.876-2990_876-2980del XM_005253731.1:c.876-2985_876-2980del XM_005253731.1:c.876-2984_876-2980del XM_005253731.1:c.876-2983_876-2980del XM_005253731.1:c.876-2982_876-2980del XM_005253731.1:c.876-2981_876-2980del XM_005253731.1:c.876-2980del XM_005253731.1:c.876-2980dup XM_005253731.1:c.876-2981_876-2980dup XM_005253731.1:c.876-2982_876-2980dup XM_005253731.1:c.876-2983_876-2980dup XM_005253731.1:c.876-2984_876-2980dup XM_005253731.1:c.876-2985_876-2980dup
SCNN1A transcript variant X5 XM_005253732.1:c.-25-2980= XM_005253732.1:c.-25-2991_-25-2980del XM_005253732.1:c.-25-2990_-25-2980del XM_005253732.1:c.-25-2985_-25-2980del XM_005253732.1:c.-25-2984_-25-2980del XM_005253732.1:c.-25-2983_-25-2980del XM_005253732.1:c.-25-2982_-25-2980del XM_005253732.1:c.-25-2981_-25-2980del XM_005253732.1:c.-25-2980del XM_005253732.1:c.-25-2980dup XM_005253732.1:c.-25-2981_-25-2980dup XM_005253732.1:c.-25-2982_-25-2980dup XM_005253732.1:c.-25-2983_-25-2980dup XM_005253732.1:c.-25-2984_-25-2980dup XM_005253732.1:c.-25-2985_-25-2980dup
Help

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#.

45 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40115508 Dec 03, 2013 (144)
2 HGSV ss80107859 Dec 15, 2007 (130)
3 HGSV ss80400247 Dec 15, 2007 (129)
4 HGSV ss81608145 Dec 15, 2007 (129)
5 HGSV ss82140078 Dec 15, 2007 (129)
6 HUMANGENOME_JCVI ss97267026 Dec 05, 2013 (144)
7 PJP ss294733839 May 09, 2011 (134)
8 SWEGEN ss3009141502 Nov 08, 2017 (151)
9 MCHAISSO ss3065460577 Nov 08, 2017 (151)
10 URBANLAB ss3649755089 Oct 12, 2018 (152)
11 ACPOP ss3738737563 Jul 13, 2019 (153)
12 ACPOP ss3738737564 Jul 13, 2019 (153)
13 EVA ss3832955310 Apr 26, 2020 (154)
14 GNOMAD ss4246339812 Apr 26, 2021 (155)
15 GNOMAD ss4246339813 Apr 26, 2021 (155)
16 GNOMAD ss4246339814 Apr 26, 2021 (155)
17 GNOMAD ss4246339815 Apr 26, 2021 (155)
18 GNOMAD ss4246339816 Apr 26, 2021 (155)
19 GNOMAD ss4246339817 Apr 26, 2021 (155)
20 GNOMAD ss4246339818 Apr 26, 2021 (155)
21 GNOMAD ss4246339819 Apr 26, 2021 (155)
22 GNOMAD ss4246339820 Apr 26, 2021 (155)
23 GNOMAD ss4246339821 Apr 26, 2021 (155)
24 GNOMAD ss4246339822 Apr 26, 2021 (155)
25 GNOMAD ss4246339823 Apr 26, 2021 (155)
26 TOPMED ss4907519172 Apr 26, 2021 (155)
27 TOMMO_GENOMICS ss5204895787 Apr 26, 2021 (155)
28 TOMMO_GENOMICS ss5204895788 Apr 26, 2021 (155)
29 TOMMO_GENOMICS ss5204895789 Apr 26, 2021 (155)
30 TOMMO_GENOMICS ss5204895790 Apr 26, 2021 (155)
31 TOMMO_GENOMICS ss5204895791 Apr 26, 2021 (155)
32 1000G_HIGH_COVERAGE ss5289680449 Oct 16, 2022 (156)
33 1000G_HIGH_COVERAGE ss5289680450 Oct 16, 2022 (156)
34 1000G_HIGH_COVERAGE ss5289680451 Oct 16, 2022 (156)
35 1000G_HIGH_COVERAGE ss5289680452 Oct 16, 2022 (156)
36 1000G_HIGH_COVERAGE ss5289680453 Oct 16, 2022 (156)
37 1000G_HIGH_COVERAGE ss5289680454 Oct 16, 2022 (156)
38 HUGCELL_USP ss5484586984 Oct 16, 2022 (156)
39 HUGCELL_USP ss5484586985 Oct 16, 2022 (156)
40 HUGCELL_USP ss5484586986 Oct 16, 2022 (156)
41 HUGCELL_USP ss5484586987 Oct 16, 2022 (156)
42 TOMMO_GENOMICS ss5753637702 Oct 16, 2022 (156)
43 TOMMO_GENOMICS ss5753637703 Oct 16, 2022 (156)
44 TOMMO_GENOMICS ss5753637704 Oct 16, 2022 (156)
45 TOMMO_GENOMICS ss5753637705 Oct 16, 2022 (156)
46 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398259286 (NC_000012.12:6358859::A 1656/76758)
Row 398259287 (NC_000012.12:6358859::AA 100/77008)
Row 398259288 (NC_000012.12:6358859::AAA 250/77048)...

- Apr 26, 2021 (155)
58 Northern Sweden

Submission ignored due to conflicting rows:
Row 12022428 (NC_000012.11:6468025::AAAAAA 4/564)
Row 12022429 (NC_000012.11:6468025:A: 10/564)

- Jul 13, 2019 (153)
59 Northern Sweden

Submission ignored due to conflicting rows:
Row 12022428 (NC_000012.11:6468025::AAAAAA 4/564)
Row 12022429 (NC_000012.11:6468025:A: 10/564)

- Jul 13, 2019 (153)
60 8.3KJPN

Submission ignored due to conflicting rows:
Row 62865094 (NC_000012.11:6468025:A: 3273/16704)
Row 62865095 (NC_000012.11:6468025:AA: 1911/16704)
Row 62865096 (NC_000012.11:6468025::A 403/16704)...

- Apr 26, 2021 (155)
61 8.3KJPN

Submission ignored due to conflicting rows:
Row 62865094 (NC_000012.11:6468025:A: 3273/16704)
Row 62865095 (NC_000012.11:6468025:AA: 1911/16704)
Row 62865096 (NC_000012.11:6468025::A 403/16704)...

- Apr 26, 2021 (155)
62 8.3KJPN

Submission ignored due to conflicting rows:
Row 62865094 (NC_000012.11:6468025:A: 3273/16704)
Row 62865095 (NC_000012.11:6468025:AA: 1911/16704)
Row 62865096 (NC_000012.11:6468025::A 403/16704)...

- Apr 26, 2021 (155)
63 8.3KJPN

Submission ignored due to conflicting rows:
Row 62865094 (NC_000012.11:6468025:A: 3273/16704)
Row 62865095 (NC_000012.11:6468025:AA: 1911/16704)
Row 62865096 (NC_000012.11:6468025::A 403/16704)...

- Apr 26, 2021 (155)
64 8.3KJPN

Submission ignored due to conflicting rows:
Row 62865094 (NC_000012.11:6468025:A: 3273/16704)
Row 62865095 (NC_000012.11:6468025:AA: 1911/16704)
Row 62865096 (NC_000012.11:6468025::A 403/16704)...

- Apr 26, 2021 (155)
65 14KJPN

Submission ignored due to conflicting rows:
Row 87474806 (NC_000012.12:6358859:A: 6140/28220)
Row 87474807 (NC_000012.12:6358859::A 701/28220)
Row 87474808 (NC_000012.12:6358859:AA: 3785/28220)...

- Oct 16, 2022 (156)
66 14KJPN

Submission ignored due to conflicting rows:
Row 87474806 (NC_000012.12:6358859:A: 6140/28220)
Row 87474807 (NC_000012.12:6358859::A 701/28220)
Row 87474808 (NC_000012.12:6358859:AA: 3785/28220)...

- Oct 16, 2022 (156)
67 14KJPN

Submission ignored due to conflicting rows:
Row 87474806 (NC_000012.12:6358859:A: 6140/28220)
Row 87474807 (NC_000012.12:6358859::A 701/28220)
Row 87474808 (NC_000012.12:6358859:AA: 3785/28220)...

- Oct 16, 2022 (156)
68 14KJPN

Submission ignored due to conflicting rows:
Row 87474806 (NC_000012.12:6358859:A: 6140/28220)
Row 87474807 (NC_000012.12:6358859::A 701/28220)
Row 87474808 (NC_000012.12:6358859:AA: 3785/28220)...

- Oct 16, 2022 (156)
69 TopMed NC_000012.12 - 6358860 Apr 26, 2021 (155)
70 ALFA NC_000012.12 - 6358860 Apr 26, 2021 (155)
Help

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)
rs59978715 May 25, 2008 (130)
rs72280689 May 11, 2012 (137)
rs397782976 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4246339823 NC_000012.12:6358859:AAAAAAAAAAAA: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
ss4246339822 NC_000012.12:6358859:AAAAAAAAAAA: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4246339821 NC_000012.12:6358859:AAAAA: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4246339820 NC_000012.12:6358859:AAAA: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5204895790 NC_000012.11:6468025:AAA: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4246339819, ss5289680451, ss5484586986, ss5753637705 NC_000012.12:6358859:AAA: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss80400247, ss81608145, ss82140078 NC_000012.9:6338304:AA: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3009141502, ss3832955310, ss5204895788 NC_000012.11:6468025:AA: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3065460577, ss4246339818, ss5289680450, ss5484586987, ss5753637704 NC_000012.12:6358859:AA: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss80107859 NC_000012.9:6338305:A: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss294733839 NC_000012.10:6338305:A: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3738737564, ss5204895787 NC_000012.11:6468025:A: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3649755089, ss4246339817, ss5289680449, ss5484586984, ss5753637702 NC_000012.12:6358859:A: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss40115508, ss97267026 NT_009759.16:6408044:A: NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5204895789 NC_000012.11:6468025::A NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4246339812, ss5289680452, ss5484586985, ss5753637703 NC_000012.12:6358859::A NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss5204895791 NC_000012.11:6468025::AA NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4246339813, ss5289680453 NC_000012.12:6358859::AA NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4246339814, ss5289680454 NC_000012.12:6358859::AAA NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
123064829, ss4246339815, ss4907519172 NC_000012.12:6358859::AAAA NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
3892903346 NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4246339816 NC_000012.12:6358859::AAAAA NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3738737563 NC_000012.11:6468025::AAAAAA NC_000012.12:6358859:AAAAAAAAAAAAA…

NC_000012.12:6358859:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Help

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

No publications for rs35673511

Help

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.

Software version is: 2.0.1.post820+afb47a3d