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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.

rs35643504

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:49099124-49099142 (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)12 / del(T)6 / del(T)4 / del…

del(T)12 / del(T)6 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)5

Variation Type
Indel Insertion and Deletion
Frequency
dupT=0.11532 (1170/10146, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LMBR1L : 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 10146 TTTTTTTTTTTTTTTTTTT=0.88281 TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00049, TTTTTTTTTTTTTTTTTTTT=0.11532, TTTTTTTTTTTTTTTTTTTTT=0.00108, TTTTTTTTTTTTTTTTTTTTTT=0.00030, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000 0.826508 0.055984 0.117507 32
European Sub 8010 TTTTTTTTTTTTTTTTTTT=0.8521 TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0006, TTTTTTTTTTTTTTTTTTTT=0.1456, TTTTTTTTTTTTTTTTTTTTT=0.0014, TTTTTTTTTTTTTTTTTTTTTT=0.0004, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.780537 0.070479 0.148984 32
African Sub 1524 TTTTTTTTTTTTTTTTTTT=1.0000 TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 64 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 1460 TTTTTTTTTTTTTTTTTTT=1.0000 TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 8 TTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 8 TTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 TTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 1 Sub 80 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 264 TTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 34 TTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 226 TTTTTTTTTTTTTTTTTTT=0.982 TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.018, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000 0.982301 0.017699 0.0 32


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
Allele Frequency Aggregator Total Global 10146 (T)19=0.88281 del(T)6=0.00000, del(T)4=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00049, dupT=0.11532, dupTT=0.00108, dupTTT=0.00030, dup(T)5=0.00000
Allele Frequency Aggregator European Sub 8010 (T)19=0.8521 del(T)6=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0006, dupT=0.1456, dupTT=0.0014, dupTTT=0.0004, dup(T)5=0.0000
Allele Frequency Aggregator African Sub 1524 (T)19=1.0000 del(T)6=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)5=0.0000
Allele Frequency Aggregator Latin American 2 Sub 264 (T)19=1.000 del(T)6=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)5=0.000
Allele Frequency Aggregator Other Sub 226 (T)19=0.982 del(T)6=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.018, dupTT=0.000, dupTTT=0.000, dup(T)5=0.000
Allele Frequency Aggregator Latin American 1 Sub 80 (T)19=1.00 del(T)6=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)5=0.00
Allele Frequency Aggregator South Asian Sub 34 (T)19=1.00 del(T)6=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)5=0.00
Allele Frequency Aggregator Asian Sub 8 (T)19=1.0 del(T)6=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)5=0.0
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.49099131_49099142del
GRCh38.p14 chr 12 NC_000012.12:g.49099137_49099142del
GRCh38.p14 chr 12 NC_000012.12:g.49099139_49099142del
GRCh38.p14 chr 12 NC_000012.12:g.49099140_49099142del
GRCh38.p14 chr 12 NC_000012.12:g.49099141_49099142del
GRCh38.p14 chr 12 NC_000012.12:g.49099142del
GRCh38.p14 chr 12 NC_000012.12:g.49099142dup
GRCh38.p14 chr 12 NC_000012.12:g.49099141_49099142dup
GRCh38.p14 chr 12 NC_000012.12:g.49099140_49099142dup
GRCh38.p14 chr 12 NC_000012.12:g.49099138_49099142dup
GRCh37.p13 chr 12 NC_000012.11:g.49492914_49492925del
GRCh37.p13 chr 12 NC_000012.11:g.49492920_49492925del
GRCh37.p13 chr 12 NC_000012.11:g.49492922_49492925del
GRCh37.p13 chr 12 NC_000012.11:g.49492923_49492925del
GRCh37.p13 chr 12 NC_000012.11:g.49492924_49492925del
GRCh37.p13 chr 12 NC_000012.11:g.49492925del
GRCh37.p13 chr 12 NC_000012.11:g.49492925dup
GRCh37.p13 chr 12 NC_000012.11:g.49492924_49492925dup
GRCh37.p13 chr 12 NC_000012.11:g.49492923_49492925dup
GRCh37.p13 chr 12 NC_000012.11:g.49492921_49492925dup
DHH RefSeqGene (LRG_1273) NG_008973.2:g.685_696del
DHH RefSeqGene (LRG_1273) NG_008973.2:g.691_696del
DHH RefSeqGene (LRG_1273) NG_008973.2:g.693_696del
DHH RefSeqGene (LRG_1273) NG_008973.2:g.694_696del
DHH RefSeqGene (LRG_1273) NG_008973.2:g.695_696del
DHH RefSeqGene (LRG_1273) NG_008973.2:g.696del
DHH RefSeqGene (LRG_1273) NG_008973.2:g.696dup
DHH RefSeqGene (LRG_1273) NG_008973.2:g.695_696dup
DHH RefSeqGene (LRG_1273) NG_008973.2:g.694_696dup
DHH RefSeqGene (LRG_1273) NG_008973.2:g.692_696dup
Gene: LMBR1L, limb development membrane protein 1 like (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LMBR1L transcript variant 2 NM_001300750.2:c.1226-103…

NM_001300750.2:c.1226-1030_1226-1019del

N/A Intron Variant
LMBR1L transcript variant 3 NM_001300751.2:c.1181-103…

NM_001300751.2:c.1181-1030_1181-1019del

N/A Intron Variant
LMBR1L transcript variant 4 NM_001352161.2:c.1262-103…

NM_001352161.2:c.1262-1030_1262-1019del

N/A Intron Variant
LMBR1L transcript variant 5 NM_001352162.2:c.1067-103…

NM_001352162.2:c.1067-1030_1067-1019del

N/A Intron Variant
LMBR1L transcript variant 6 NM_001352163.2:c.881-1030…

NM_001352163.2:c.881-1030_881-1019del

N/A Intron Variant
LMBR1L transcript variant 7 NM_001352164.2:c.799+1253…

NM_001352164.2:c.799+1253_799+1264del

N/A Intron Variant
LMBR1L transcript variant 8 NM_001352165.2:c.860-1030…

NM_001352165.2:c.860-1030_860-1019del

N/A Intron Variant
LMBR1L transcript variant 9 NM_001352166.2:c.860-1030…

NM_001352166.2:c.860-1030_860-1019del

N/A Intron Variant
LMBR1L transcript variant 10 NM_001352167.2:c.617-1030…

NM_001352167.2:c.617-1030_617-1019del

N/A Intron Variant
LMBR1L transcript variant 11 NM_001352168.2:c.617-1030…

NM_001352168.2:c.617-1030_617-1019del

N/A Intron Variant
LMBR1L transcript variant 1 NM_018113.4:c.1241-1030_1…

NM_018113.4:c.1241-1030_1241-1019del

N/A Intron Variant
LMBR1L transcript variant X3 XM_024449053.2:c.1180+125…

XM_024449053.2:c.1180+1253_1180+1264del

N/A Intron Variant
LMBR1L transcript variant X1 XM_047429139.1:c.1226-103…

XM_047429139.1:c.1226-1030_1226-1019del

N/A Intron Variant
LMBR1L transcript variant X2 XM_047429140.1:c.1240+125…

XM_047429140.1:c.1240+1253_1240+1264del

N/A Intron Variant
LMBR1L transcript variant X6 XM_047429142.1:c.860-1030…

XM_047429142.1:c.860-1030_860-1019del

N/A Intron Variant
LMBR1L transcript variant X7 XM_047429143.1:c.617-1030…

XM_047429143.1:c.617-1030_617-1019del

N/A Intron Variant
LMBR1L transcript variant X5 XM_047429141.1:c. N/A Genic Downstream Transcript Variant
LMBR1L transcript variant X4 XR_245944.4:n. N/A Genic Downstream Transcript 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 (T)19= del(T)12 del(T)6 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)5
GRCh38.p14 chr 12 NC_000012.12:g.49099124_49099142= NC_000012.12:g.49099131_49099142del NC_000012.12:g.49099137_49099142del NC_000012.12:g.49099139_49099142del NC_000012.12:g.49099140_49099142del NC_000012.12:g.49099141_49099142del NC_000012.12:g.49099142del NC_000012.12:g.49099142dup NC_000012.12:g.49099141_49099142dup NC_000012.12:g.49099140_49099142dup NC_000012.12:g.49099138_49099142dup
GRCh37.p13 chr 12 NC_000012.11:g.49492907_49492925= NC_000012.11:g.49492914_49492925del NC_000012.11:g.49492920_49492925del NC_000012.11:g.49492922_49492925del NC_000012.11:g.49492923_49492925del NC_000012.11:g.49492924_49492925del NC_000012.11:g.49492925del NC_000012.11:g.49492925dup NC_000012.11:g.49492924_49492925dup NC_000012.11:g.49492923_49492925dup NC_000012.11:g.49492921_49492925dup
DHH RefSeqGene (LRG_1273) NG_008973.2:g.678_696= NG_008973.2:g.685_696del NG_008973.2:g.691_696del NG_008973.2:g.693_696del NG_008973.2:g.694_696del NG_008973.2:g.695_696del NG_008973.2:g.696del NG_008973.2:g.696dup NG_008973.2:g.695_696dup NG_008973.2:g.694_696dup NG_008973.2:g.692_696dup
LMBR1L transcript variant 2 NM_001300750.2:c.1226-1019= NM_001300750.2:c.1226-1030_1226-1019del NM_001300750.2:c.1226-1024_1226-1019del NM_001300750.2:c.1226-1022_1226-1019del NM_001300750.2:c.1226-1021_1226-1019del NM_001300750.2:c.1226-1020_1226-1019del NM_001300750.2:c.1226-1019del NM_001300750.2:c.1226-1019dup NM_001300750.2:c.1226-1020_1226-1019dup NM_001300750.2:c.1226-1021_1226-1019dup NM_001300750.2:c.1226-1023_1226-1019dup
LMBR1L transcript variant 3 NM_001300751.2:c.1181-1019= NM_001300751.2:c.1181-1030_1181-1019del NM_001300751.2:c.1181-1024_1181-1019del NM_001300751.2:c.1181-1022_1181-1019del NM_001300751.2:c.1181-1021_1181-1019del NM_001300751.2:c.1181-1020_1181-1019del NM_001300751.2:c.1181-1019del NM_001300751.2:c.1181-1019dup NM_001300751.2:c.1181-1020_1181-1019dup NM_001300751.2:c.1181-1021_1181-1019dup NM_001300751.2:c.1181-1023_1181-1019dup
LMBR1L transcript variant 4 NM_001352161.2:c.1262-1019= NM_001352161.2:c.1262-1030_1262-1019del NM_001352161.2:c.1262-1024_1262-1019del NM_001352161.2:c.1262-1022_1262-1019del NM_001352161.2:c.1262-1021_1262-1019del NM_001352161.2:c.1262-1020_1262-1019del NM_001352161.2:c.1262-1019del NM_001352161.2:c.1262-1019dup NM_001352161.2:c.1262-1020_1262-1019dup NM_001352161.2:c.1262-1021_1262-1019dup NM_001352161.2:c.1262-1023_1262-1019dup
LMBR1L transcript variant 5 NM_001352162.2:c.1067-1019= NM_001352162.2:c.1067-1030_1067-1019del NM_001352162.2:c.1067-1024_1067-1019del NM_001352162.2:c.1067-1022_1067-1019del NM_001352162.2:c.1067-1021_1067-1019del NM_001352162.2:c.1067-1020_1067-1019del NM_001352162.2:c.1067-1019del NM_001352162.2:c.1067-1019dup NM_001352162.2:c.1067-1020_1067-1019dup NM_001352162.2:c.1067-1021_1067-1019dup NM_001352162.2:c.1067-1023_1067-1019dup
LMBR1L transcript variant 6 NM_001352163.2:c.881-1019= NM_001352163.2:c.881-1030_881-1019del NM_001352163.2:c.881-1024_881-1019del NM_001352163.2:c.881-1022_881-1019del NM_001352163.2:c.881-1021_881-1019del NM_001352163.2:c.881-1020_881-1019del NM_001352163.2:c.881-1019del NM_001352163.2:c.881-1019dup NM_001352163.2:c.881-1020_881-1019dup NM_001352163.2:c.881-1021_881-1019dup NM_001352163.2:c.881-1023_881-1019dup
LMBR1L transcript variant 7 NM_001352164.2:c.799+1264= NM_001352164.2:c.799+1253_799+1264del NM_001352164.2:c.799+1259_799+1264del NM_001352164.2:c.799+1261_799+1264del NM_001352164.2:c.799+1262_799+1264del NM_001352164.2:c.799+1263_799+1264del NM_001352164.2:c.799+1264del NM_001352164.2:c.799+1264dup NM_001352164.2:c.799+1263_799+1264dup NM_001352164.2:c.799+1262_799+1264dup NM_001352164.2:c.799+1260_799+1264dup
LMBR1L transcript variant 8 NM_001352165.2:c.860-1019= NM_001352165.2:c.860-1030_860-1019del NM_001352165.2:c.860-1024_860-1019del NM_001352165.2:c.860-1022_860-1019del NM_001352165.2:c.860-1021_860-1019del NM_001352165.2:c.860-1020_860-1019del NM_001352165.2:c.860-1019del NM_001352165.2:c.860-1019dup NM_001352165.2:c.860-1020_860-1019dup NM_001352165.2:c.860-1021_860-1019dup NM_001352165.2:c.860-1023_860-1019dup
LMBR1L transcript variant 9 NM_001352166.2:c.860-1019= NM_001352166.2:c.860-1030_860-1019del NM_001352166.2:c.860-1024_860-1019del NM_001352166.2:c.860-1022_860-1019del NM_001352166.2:c.860-1021_860-1019del NM_001352166.2:c.860-1020_860-1019del NM_001352166.2:c.860-1019del NM_001352166.2:c.860-1019dup NM_001352166.2:c.860-1020_860-1019dup NM_001352166.2:c.860-1021_860-1019dup NM_001352166.2:c.860-1023_860-1019dup
LMBR1L transcript variant 10 NM_001352167.2:c.617-1019= NM_001352167.2:c.617-1030_617-1019del NM_001352167.2:c.617-1024_617-1019del NM_001352167.2:c.617-1022_617-1019del NM_001352167.2:c.617-1021_617-1019del NM_001352167.2:c.617-1020_617-1019del NM_001352167.2:c.617-1019del NM_001352167.2:c.617-1019dup NM_001352167.2:c.617-1020_617-1019dup NM_001352167.2:c.617-1021_617-1019dup NM_001352167.2:c.617-1023_617-1019dup
LMBR1L transcript variant 11 NM_001352168.2:c.617-1019= NM_001352168.2:c.617-1030_617-1019del NM_001352168.2:c.617-1024_617-1019del NM_001352168.2:c.617-1022_617-1019del NM_001352168.2:c.617-1021_617-1019del NM_001352168.2:c.617-1020_617-1019del NM_001352168.2:c.617-1019del NM_001352168.2:c.617-1019dup NM_001352168.2:c.617-1020_617-1019dup NM_001352168.2:c.617-1021_617-1019dup NM_001352168.2:c.617-1023_617-1019dup
LMBR1L transcript NM_018113.2:c.1241-1019= NM_018113.2:c.1241-1030_1241-1019del NM_018113.2:c.1241-1024_1241-1019del NM_018113.2:c.1241-1022_1241-1019del NM_018113.2:c.1241-1021_1241-1019del NM_018113.2:c.1241-1020_1241-1019del NM_018113.2:c.1241-1019del NM_018113.2:c.1241-1019dup NM_018113.2:c.1241-1020_1241-1019dup NM_018113.2:c.1241-1021_1241-1019dup NM_018113.2:c.1241-1023_1241-1019dup
LMBR1L transcript variant 1 NM_018113.4:c.1241-1019= NM_018113.4:c.1241-1030_1241-1019del NM_018113.4:c.1241-1024_1241-1019del NM_018113.4:c.1241-1022_1241-1019del NM_018113.4:c.1241-1021_1241-1019del NM_018113.4:c.1241-1020_1241-1019del NM_018113.4:c.1241-1019del NM_018113.4:c.1241-1019dup NM_018113.4:c.1241-1020_1241-1019dup NM_018113.4:c.1241-1021_1241-1019dup NM_018113.4:c.1241-1023_1241-1019dup
LMBR1L transcript variant X1 XM_005269021.1:c.1226-1019= XM_005269021.1:c.1226-1030_1226-1019del XM_005269021.1:c.1226-1024_1226-1019del XM_005269021.1:c.1226-1022_1226-1019del XM_005269021.1:c.1226-1021_1226-1019del XM_005269021.1:c.1226-1020_1226-1019del XM_005269021.1:c.1226-1019del XM_005269021.1:c.1226-1019dup XM_005269021.1:c.1226-1020_1226-1019dup XM_005269021.1:c.1226-1021_1226-1019dup XM_005269021.1:c.1226-1023_1226-1019dup
LMBR1L transcript variant X2 XM_005269022.1:c.1181-1019= XM_005269022.1:c.1181-1030_1181-1019del XM_005269022.1:c.1181-1024_1181-1019del XM_005269022.1:c.1181-1022_1181-1019del XM_005269022.1:c.1181-1021_1181-1019del XM_005269022.1:c.1181-1020_1181-1019del XM_005269022.1:c.1181-1019del XM_005269022.1:c.1181-1019dup XM_005269022.1:c.1181-1020_1181-1019dup XM_005269022.1:c.1181-1021_1181-1019dup XM_005269022.1:c.1181-1023_1181-1019dup
LMBR1L transcript variant X3 XM_024449053.2:c.1180+1264= XM_024449053.2:c.1180+1253_1180+1264del XM_024449053.2:c.1180+1259_1180+1264del XM_024449053.2:c.1180+1261_1180+1264del XM_024449053.2:c.1180+1262_1180+1264del XM_024449053.2:c.1180+1263_1180+1264del XM_024449053.2:c.1180+1264del XM_024449053.2:c.1180+1264dup XM_024449053.2:c.1180+1263_1180+1264dup XM_024449053.2:c.1180+1262_1180+1264dup XM_024449053.2:c.1180+1260_1180+1264dup
LMBR1L transcript variant X1 XM_047429139.1:c.1226-1019= XM_047429139.1:c.1226-1030_1226-1019del XM_047429139.1:c.1226-1024_1226-1019del XM_047429139.1:c.1226-1022_1226-1019del XM_047429139.1:c.1226-1021_1226-1019del XM_047429139.1:c.1226-1020_1226-1019del XM_047429139.1:c.1226-1019del XM_047429139.1:c.1226-1019dup XM_047429139.1:c.1226-1020_1226-1019dup XM_047429139.1:c.1226-1021_1226-1019dup XM_047429139.1:c.1226-1023_1226-1019dup
LMBR1L transcript variant X2 XM_047429140.1:c.1240+1264= XM_047429140.1:c.1240+1253_1240+1264del XM_047429140.1:c.1240+1259_1240+1264del XM_047429140.1:c.1240+1261_1240+1264del XM_047429140.1:c.1240+1262_1240+1264del XM_047429140.1:c.1240+1263_1240+1264del XM_047429140.1:c.1240+1264del XM_047429140.1:c.1240+1264dup XM_047429140.1:c.1240+1263_1240+1264dup XM_047429140.1:c.1240+1262_1240+1264dup XM_047429140.1:c.1240+1260_1240+1264dup
LMBR1L transcript variant X6 XM_047429142.1:c.860-1019= XM_047429142.1:c.860-1030_860-1019del XM_047429142.1:c.860-1024_860-1019del XM_047429142.1:c.860-1022_860-1019del XM_047429142.1:c.860-1021_860-1019del XM_047429142.1:c.860-1020_860-1019del XM_047429142.1:c.860-1019del XM_047429142.1:c.860-1019dup XM_047429142.1:c.860-1020_860-1019dup XM_047429142.1:c.860-1021_860-1019dup XM_047429142.1:c.860-1023_860-1019dup
LMBR1L transcript variant X7 XM_047429143.1:c.617-1019= XM_047429143.1:c.617-1030_617-1019del XM_047429143.1:c.617-1024_617-1019del XM_047429143.1:c.617-1022_617-1019del XM_047429143.1:c.617-1021_617-1019del XM_047429143.1:c.617-1020_617-1019del XM_047429143.1:c.617-1019del XM_047429143.1:c.617-1019dup XM_047429143.1:c.617-1020_617-1019dup XM_047429143.1:c.617-1021_617-1019dup XM_047429143.1:c.617-1023_617-1019dup
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#.

37 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40182525 Mar 15, 2006 (126)
2 HUMANGENOME_JCVI ss95595917 Feb 13, 2009 (130)
3 EVA_UK10K_ALSPAC ss1707459891 Apr 01, 2015 (144)
4 EVA_UK10K_ALSPAC ss1707459892 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1707460021 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1707460022 Apr 01, 2015 (144)
7 SWEGEN ss3009658875 Nov 08, 2017 (151)
8 MCHAISSO ss3064557985 Nov 08, 2017 (151)
9 URBANLAB ss3649834679 Oct 12, 2018 (152)
10 PACBIO ss3792323696 Jul 13, 2019 (153)
11 EVA ss3833114396 Apr 27, 2020 (154)
12 GNOMAD ss4251491973 Apr 26, 2021 (155)
13 GNOMAD ss4251491974 Apr 26, 2021 (155)
14 GNOMAD ss4251491975 Apr 26, 2021 (155)
15 GNOMAD ss4251491976 Apr 26, 2021 (155)
16 GNOMAD ss4251491977 Apr 26, 2021 (155)
17 GNOMAD ss4251491978 Apr 26, 2021 (155)
18 GNOMAD ss4251491979 Apr 26, 2021 (155)
19 GNOMAD ss4251491980 Apr 26, 2021 (155)
20 GNOMAD ss4251491981 Apr 26, 2021 (155)
21 TOMMO_GENOMICS ss5206236328 Apr 26, 2021 (155)
22 TOMMO_GENOMICS ss5206236329 Apr 26, 2021 (155)
23 TOMMO_GENOMICS ss5206236330 Apr 26, 2021 (155)
24 TOMMO_GENOMICS ss5206236331 Apr 26, 2021 (155)
25 TOMMO_GENOMICS ss5206236332 Apr 26, 2021 (155)
26 1000G_HIGH_COVERAGE ss5290747753 Oct 13, 2022 (156)
27 1000G_HIGH_COVERAGE ss5290747754 Oct 13, 2022 (156)
28 1000G_HIGH_COVERAGE ss5290747755 Oct 13, 2022 (156)
29 HUGCELL_USP ss5485507917 Oct 13, 2022 (156)
30 HUGCELL_USP ss5485507918 Oct 13, 2022 (156)
31 HUGCELL_USP ss5485507919 Oct 13, 2022 (156)
32 HUGCELL_USP ss5485507920 Oct 13, 2022 (156)
33 TOMMO_GENOMICS ss5755998530 Oct 13, 2022 (156)
34 TOMMO_GENOMICS ss5755998531 Oct 13, 2022 (156)
35 TOMMO_GENOMICS ss5755998532 Oct 13, 2022 (156)
36 TOMMO_GENOMICS ss5755998533 Oct 13, 2022 (156)
37 EVA ss5850374695 Oct 13, 2022 (156)
38 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 32037838 (NC_000012.11:49492906::TT 225/3854)
Row 32037839 (NC_000012.11:49492906::T 1789/3854)

- Oct 12, 2018 (152)
39 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 32037838 (NC_000012.11:49492906::TT 225/3854)
Row 32037839 (NC_000012.11:49492906::T 1789/3854)

- Oct 12, 2018 (152)
40 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 406823322 (NC_000012.12:49099123::T 30462/93810)
Row 406823323 (NC_000012.12:49099123::TT 363/93840)
Row 406823324 (NC_000012.12:49099123::TTT 8/93850)...

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

Submission ignored due to conflicting rows:
Row 406823322 (NC_000012.12:49099123::T 30462/93810)
Row 406823323 (NC_000012.12:49099123::TT 363/93840)
Row 406823324 (NC_000012.12:49099123::TTT 8/93850)...

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

Submission ignored due to conflicting rows:
Row 406823322 (NC_000012.12:49099123::T 30462/93810)
Row 406823323 (NC_000012.12:49099123::TT 363/93840)
Row 406823324 (NC_000012.12:49099123::TTT 8/93850)...

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

Submission ignored due to conflicting rows:
Row 406823322 (NC_000012.12:49099123::T 30462/93810)
Row 406823323 (NC_000012.12:49099123::TT 363/93840)
Row 406823324 (NC_000012.12:49099123::TTT 8/93850)...

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

Submission ignored due to conflicting rows:
Row 406823322 (NC_000012.12:49099123::T 30462/93810)
Row 406823323 (NC_000012.12:49099123::TT 363/93840)
Row 406823324 (NC_000012.12:49099123::TTT 8/93850)...

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

Submission ignored due to conflicting rows:
Row 406823322 (NC_000012.12:49099123::T 30462/93810)
Row 406823323 (NC_000012.12:49099123::TT 363/93840)
Row 406823324 (NC_000012.12:49099123::TTT 8/93850)...

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

Submission ignored due to conflicting rows:
Row 406823322 (NC_000012.12:49099123::T 30462/93810)
Row 406823323 (NC_000012.12:49099123::TT 363/93840)
Row 406823324 (NC_000012.12:49099123::TTT 8/93850)...

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

Submission ignored due to conflicting rows:
Row 406823322 (NC_000012.12:49099123::T 30462/93810)
Row 406823323 (NC_000012.12:49099123::TT 363/93840)
Row 406823324 (NC_000012.12:49099123::TTT 8/93850)...

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

Submission ignored due to conflicting rows:
Row 406823322 (NC_000012.12:49099123::T 30462/93810)
Row 406823323 (NC_000012.12:49099123::TT 363/93840)
Row 406823324 (NC_000012.12:49099123::TTT 8/93850)...

- Apr 26, 2021 (155)
49 8.3KJPN

Submission ignored due to conflicting rows:
Row 64205635 (NC_000012.11:49492906::T 8977/16110)
Row 64205636 (NC_000012.11:49492906::TT 98/16110)
Row 64205637 (NC_000012.11:49492906:TTTT: 2/16110)...

- Apr 26, 2021 (155)
50 8.3KJPN

Submission ignored due to conflicting rows:
Row 64205635 (NC_000012.11:49492906::T 8977/16110)
Row 64205636 (NC_000012.11:49492906::TT 98/16110)
Row 64205637 (NC_000012.11:49492906:TTTT: 2/16110)...

- Apr 26, 2021 (155)
51 8.3KJPN

Submission ignored due to conflicting rows:
Row 64205635 (NC_000012.11:49492906::T 8977/16110)
Row 64205636 (NC_000012.11:49492906::TT 98/16110)
Row 64205637 (NC_000012.11:49492906:TTTT: 2/16110)...

- Apr 26, 2021 (155)
52 8.3KJPN

Submission ignored due to conflicting rows:
Row 64205635 (NC_000012.11:49492906::T 8977/16110)
Row 64205636 (NC_000012.11:49492906::TT 98/16110)
Row 64205637 (NC_000012.11:49492906:TTTT: 2/16110)...

- Apr 26, 2021 (155)
53 8.3KJPN

Submission ignored due to conflicting rows:
Row 64205635 (NC_000012.11:49492906::T 8977/16110)
Row 64205636 (NC_000012.11:49492906::TT 98/16110)
Row 64205637 (NC_000012.11:49492906:TTTT: 2/16110)...

- Apr 26, 2021 (155)
54 14KJPN

Submission ignored due to conflicting rows:
Row 89835634 (NC_000012.12:49099123::T 14966/27816)
Row 89835635 (NC_000012.12:49099123::TT 122/27816)
Row 89835636 (NC_000012.12:49099123:T: 60/27816)...

- Oct 13, 2022 (156)
55 14KJPN

Submission ignored due to conflicting rows:
Row 89835634 (NC_000012.12:49099123::T 14966/27816)
Row 89835635 (NC_000012.12:49099123::TT 122/27816)
Row 89835636 (NC_000012.12:49099123:T: 60/27816)...

- Oct 13, 2022 (156)
56 14KJPN

Submission ignored due to conflicting rows:
Row 89835634 (NC_000012.12:49099123::T 14966/27816)
Row 89835635 (NC_000012.12:49099123::TT 122/27816)
Row 89835636 (NC_000012.12:49099123:T: 60/27816)...

- Oct 13, 2022 (156)
57 14KJPN

Submission ignored due to conflicting rows:
Row 89835634 (NC_000012.12:49099123::T 14966/27816)
Row 89835635 (NC_000012.12:49099123::TT 122/27816)
Row 89835636 (NC_000012.12:49099123:T: 60/27816)...

- Oct 13, 2022 (156)
58 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 32037838 (NC_000012.11:49492906::TT 225/3708)
Row 32037839 (NC_000012.11:49492906::T 1619/3708)

- Oct 12, 2018 (152)
59 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 32037838 (NC_000012.11:49492906::TT 225/3708)
Row 32037839 (NC_000012.11:49492906::T 1619/3708)

- Oct 12, 2018 (152)
60 ALFA NC_000012.12 - 49099124 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3009658875 NC_000012.11:49492906:TTTTTTTTTTTT: NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTT

(self)
ss4251491981 NC_000012.12:49099123:TTTTTT: NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
431522134 NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss5206236330 NC_000012.11:49492906:TTTT: NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4251491980, ss5755998533 NC_000012.12:49099123:TTTT: NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
431522134 NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4251491979 NC_000012.12:49099123:TTT: NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
431522134 NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss5206236332 NC_000012.11:49492906:TT: NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4251491978 NC_000012.12:49099123:TT: NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
431522134 NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss5206236331 NC_000012.11:49492906:T: NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4251491977, ss5290747755, ss5485507918, ss5755998532 NC_000012.12:49099123:T: NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
431522134 NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss1707459892, ss1707460022, ss3792323696, ss3833114396, ss5206236328 NC_000012.11:49492906::T NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3064557985, ss3649834679, ss4251491973, ss5290747753, ss5485507917, ss5755998530, ss5850374695 NC_000012.12:49099123::T NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
431522134 NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss40182525 NT_029419.12:11636212::T NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss95595917 NT_029419.12:11636231::T NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss1707459891, ss1707460021, ss5206236329 NC_000012.11:49492906::TT NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4251491974, ss5290747754, ss5485507919, ss5755998531 NC_000012.12:49099123::TT NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
431522134 NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4251491975 NC_000012.12:49099123::TTT NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
431522134 NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4251491976, ss5485507920 NC_000012.12:49099123::TTTTT NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
431522134 NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000012.12:49099123:TTTTTTTTTTTT…

NC_000012.12:49099123:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(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 rs35643504

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