Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1050171

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:55181370 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.482935 (127828/264690, TOPMED)
G=0.476248 (119743/251430, GnomAD_exome)
G=0.483832 (67753/140034, GnomAD) (+ 24 more)
G=0.477223 (57869/121262, ExAC)
G=0.42725 (38873/90984, ALFA)
A=0.15741 (4448/28258, 14KJPN)
A=0.15933 (2670/16758, 8.3KJPN)
G=0.45756 (5951/13006, GO-ESP)
A=0.4377 (2803/6404, 1000G_30x)
A=0.4327 (2167/5008, 1000G)
G=0.4357 (1952/4480, Estonian)
G=0.4242 (1635/3854, ALSPAC)
G=0.4167 (1545/3708, TWINSUK)
A=0.1332 (389/2920, KOREAN)
A=0.1261 (231/1832, Korea1K)
G=0.381 (380/998, GoNL)
A=0.154 (121/786, PRJEB37584)
A=0.285 (175/614, Vietnamese)
G=0.483 (290/600, NorthernSweden)
G=0.440 (235/534, MGP)
G=0.302 (116/384, SGDP_PRJ)
A=0.405 (133/328, HapMap)
A=0.487 (148/304, FINRISK)
G=0.440 (95/216, Qatari)
G=0.345 (40/116, PharmGKB)
G=0.32 (30/94, Ancient Sardinia)
G=0.37 (14/38, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
EGFR : Missense Variant
EGFR-AS1 : Non Coding Transcript Variant
Publications
18 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 107324 G=0.433314 A=0.566686, C=0.000000
European Sub 75546 G=0.40644 A=0.59356, C=0.00000
African Sub 12922 G=0.59263 A=0.40737, C=0.00000
African Others Sub 454 G=0.645 A=0.355, C=0.000
African American Sub 12468 G=0.59071 A=0.40929, C=0.00000
Asian Sub 510 G=0.804 A=0.196, C=0.000
East Asian Sub 412 G=0.801 A=0.199, C=0.000
Other Asian Sub 98 G=0.82 A=0.18, C=0.00
Latin American 1 Sub 950 G=0.445 A=0.555, C=0.000
Latin American 2 Sub 4962 G=0.4341 A=0.5659, C=0.0000
South Asian Sub 178 G=0.562 A=0.438, C=0.000
Other Sub 12256 G=0.41245 A=0.58755, C=0.00000


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 G=0.482935 A=0.517065
gnomAD - Exomes Global Study-wide 251430 G=0.476248 A=0.523752
gnomAD - Exomes European Sub 135366 G=0.429391 A=0.570609
gnomAD - Exomes Asian Sub 49004 G=0.62321 A=0.37679
gnomAD - Exomes American Sub 34586 G=0.45073 A=0.54927
gnomAD - Exomes African Sub 16254 G=0.59075 A=0.40925
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=0.33135 A=0.66865
gnomAD - Exomes Other Sub 6140 G=0.4148 A=0.5852
gnomAD - Genomes Global Study-wide 140034 G=0.483832 A=0.516168
gnomAD - Genomes European Sub 75850 G=0.42630 A=0.57370
gnomAD - Genomes African Sub 41942 G=0.58800 A=0.41200
gnomAD - Genomes American Sub 13650 G=0.44476 A=0.55524
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.3397 A=0.6603
gnomAD - Genomes East Asian Sub 3128 G=0.8181 A=0.1819
gnomAD - Genomes Other Sub 2146 G=0.4655 A=0.5345
ExAC Global Study-wide 121262 G=0.477223 A=0.522777
ExAC Europe Sub 73280 G=0.41895 A=0.58105
ExAC Asian Sub 25118 G=0.61641 A=0.38359
ExAC American Sub 11572 G=0.45083 A=0.54917
ExAC African Sub 10384 G=0.58378 A=0.41622
ExAC Other Sub 908 G=0.447 A=0.553
Allele Frequency Aggregator Total Global 90984 G=0.42725 A=0.57275, C=0.00000
Allele Frequency Aggregator European Sub 65474 G=0.40590 A=0.59410, C=0.00000
Allele Frequency Aggregator Other Sub 10826 G=0.40883 A=0.59117, C=0.00000
Allele Frequency Aggregator African Sub 8084 G=0.5918 A=0.4082, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 4962 G=0.4341 A=0.5659, C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 950 G=0.445 A=0.555, C=0.000
Allele Frequency Aggregator Asian Sub 510 G=0.804 A=0.196, C=0.000
Allele Frequency Aggregator South Asian Sub 178 G=0.562 A=0.438, C=0.000
14KJPN JAPANESE Study-wide 28258 G=0.84259 A=0.15741
8.3KJPN JAPANESE Study-wide 16758 G=0.84067 A=0.15933
GO Exome Sequencing Project Global Study-wide 13006 G=0.45756 A=0.54244
GO Exome Sequencing Project European American Sub 8600 G=0.3962 A=0.6038
GO Exome Sequencing Project African American Sub 4406 G=0.5774 A=0.4226
1000Genomes_30x Global Study-wide 6404 G=0.5623 A=0.4377
1000Genomes_30x African Sub 1786 G=0.5834 A=0.4166
1000Genomes_30x Europe Sub 1266 G=0.3949 A=0.6051
1000Genomes_30x South Asian Sub 1202 G=0.5391 A=0.4609
1000Genomes_30x East Asian Sub 1170 G=0.8222 A=0.1778
1000Genomes_30x American Sub 980 G=0.458 A=0.542
1000Genomes Global Study-wide 5008 G=0.5673 A=0.4327
1000Genomes African Sub 1322 G=0.5825 A=0.4175
1000Genomes East Asian Sub 1008 G=0.8175 A=0.1825
1000Genomes Europe Sub 1006 G=0.3926 A=0.6074
1000Genomes South Asian Sub 978 G=0.553 A=0.447
1000Genomes American Sub 694 G=0.448 A=0.552
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4357 A=0.5643
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4242 A=0.5758
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4167 A=0.5833
KOREAN population from KRGDB KOREAN Study-wide 2920 G=0.8668 A=0.1332
Korean Genome Project KOREAN Study-wide 1832 G=0.8739 A=0.1261
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.381 A=0.619
CNV burdens in cranial meningiomas Global Study-wide 786 G=0.846 A=0.154
CNV burdens in cranial meningiomas CRM Sub 786 G=0.846 A=0.154
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.715 A=0.285
Northern Sweden ACPOP Study-wide 600 G=0.483 A=0.517
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.440 A=0.560
SGDP_PRJ Global Study-wide 384 G=0.302 A=0.698
HapMap Global Study-wide 328 G=0.595 A=0.405
HapMap African Sub 120 G=0.575 A=0.425
HapMap American Sub 120 G=0.417 A=0.583
HapMap Asian Sub 88 G=0.86 A=0.14
FINRISK Finnish from FINRISK project Study-wide 304 G=0.513 A=0.487
Qatari Global Study-wide 216 G=0.440 A=0.560
PharmGKB Aggregated Global Study-wide 116 G=0.345 A=0.655
PharmGKB Aggregated PA156071171 Sub 116 G=0.345 A=0.655
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 94 G=0.32 A=0.68
Siberian Global Study-wide 38 G=0.37 A=0.63
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 7 NC_000007.14:g.55181370G>A
GRCh38.p14 chr 7 NC_000007.14:g.55181370G>C
GRCh38.p14 chr 7 NC_000007.14:g.55181370G>T
GRCh37.p13 chr 7 NC_000007.13:g.55249063G>A
GRCh37.p13 chr 7 NC_000007.13:g.55249063G>C
GRCh37.p13 chr 7 NC_000007.13:g.55249063G>T
EGFR RefSeqGene (LRG_304) NG_007726.3:g.167339G>A
EGFR RefSeqGene (LRG_304) NG_007726.3:g.167339G>C
EGFR RefSeqGene (LRG_304) NG_007726.3:g.167339G>T
Gene: EGFR, epidermal growth factor receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EGFR transcript variant 2 NM_201282.2:c. N/A Genic Downstream Transcript Variant
EGFR transcript variant 3 NM_201283.2:c. N/A Genic Downstream Transcript Variant
EGFR transcript variant 4 NM_201284.2:c. N/A Genic Downstream Transcript Variant
EGFR transcript variant 1 NM_005228.5:c.2361G>A Q [CAG] > Q [CAA] Coding Sequence Variant
epidermal growth factor receptor isoform a precursor NP_005219.2:p.Gln787= Q (Gln) > Q (Gln) Synonymous Variant
EGFR transcript variant 1 NM_005228.5:c.2361G>C Q [CAG] > H [CAC] Coding Sequence Variant
epidermal growth factor receptor isoform a precursor NP_005219.2:p.Gln787His Q (Gln) > H (His) Missense Variant
EGFR transcript variant 1 NM_005228.5:c.2361G>T Q [CAG] > H [CAT] Coding Sequence Variant
epidermal growth factor receptor isoform a precursor NP_005219.2:p.Gln787His Q (Gln) > H (His) Missense Variant
EGFR transcript variant 6 NM_001346898.2:c.2361G>A Q [CAG] > Q [CAA] Coding Sequence Variant
epidermal growth factor receptor isoform f precursor NP_001333827.1:p.Gln787= Q (Gln) > Q (Gln) Synonymous Variant
EGFR transcript variant 6 NM_001346898.2:c.2361G>C Q [CAG] > H [CAC] Coding Sequence Variant
epidermal growth factor receptor isoform f precursor NP_001333827.1:p.Gln787His Q (Gln) > H (His) Missense Variant
EGFR transcript variant 6 NM_001346898.2:c.2361G>T Q [CAG] > H [CAT] Coding Sequence Variant
epidermal growth factor receptor isoform f precursor NP_001333827.1:p.Gln787His Q (Gln) > H (His) Missense Variant
EGFR transcript variant EGFRvIII NM_001346941.2:c.1560G>A Q [CAG] > Q [CAA] Coding Sequence Variant
epidermal growth factor receptor isoform i precursor NP_001333870.1:p.Gln520= Q (Gln) > Q (Gln) Synonymous Variant
EGFR transcript variant EGFRvIII NM_001346941.2:c.1560G>C Q [CAG] > H [CAC] Coding Sequence Variant
epidermal growth factor receptor isoform i precursor NP_001333870.1:p.Gln520His Q (Gln) > H (His) Missense Variant
EGFR transcript variant EGFRvIII NM_001346941.2:c.1560G>T Q [CAG] > H [CAT] Coding Sequence Variant
epidermal growth factor receptor isoform i precursor NP_001333870.1:p.Gln520His Q (Gln) > H (His) Missense Variant
EGFR transcript variant 8 NM_001346900.2:c.2202G>A Q [CAG] > Q [CAA] Coding Sequence Variant
epidermal growth factor receptor isoform h NP_001333829.1:p.Gln734= Q (Gln) > Q (Gln) Synonymous Variant
EGFR transcript variant 8 NM_001346900.2:c.2202G>C Q [CAG] > H [CAC] Coding Sequence Variant
epidermal growth factor receptor isoform h NP_001333829.1:p.Gln734His Q (Gln) > H (His) Missense Variant
EGFR transcript variant 8 NM_001346900.2:c.2202G>T Q [CAG] > H [CAT] Coding Sequence Variant
epidermal growth factor receptor isoform h NP_001333829.1:p.Gln734His Q (Gln) > H (His) Missense Variant
EGFR transcript variant 5 NM_001346897.2:c.2226G>A Q [CAG] > Q [CAA] Coding Sequence Variant
epidermal growth factor receptor isoform e precursor NP_001333826.1:p.Gln742= Q (Gln) > Q (Gln) Synonymous Variant
EGFR transcript variant 5 NM_001346897.2:c.2226G>C Q [CAG] > H [CAC] Coding Sequence Variant
epidermal growth factor receptor isoform e precursor NP_001333826.1:p.Gln742His Q (Gln) > H (His) Missense Variant
EGFR transcript variant 5 NM_001346897.2:c.2226G>T Q [CAG] > H [CAT] Coding Sequence Variant
epidermal growth factor receptor isoform e precursor NP_001333826.1:p.Gln742His Q (Gln) > H (His) Missense Variant
EGFR transcript variant 7 NM_001346899.2:c.2226G>A Q [CAG] > Q [CAA] Coding Sequence Variant
epidermal growth factor receptor isoform g precursor NP_001333828.1:p.Gln742= Q (Gln) > Q (Gln) Synonymous Variant
EGFR transcript variant 7 NM_001346899.2:c.2226G>C Q [CAG] > H [CAC] Coding Sequence Variant
epidermal growth factor receptor isoform g precursor NP_001333828.1:p.Gln742His Q (Gln) > H (His) Missense Variant
EGFR transcript variant 7 NM_001346899.2:c.2226G>T Q [CAG] > H [CAT] Coding Sequence Variant
epidermal growth factor receptor isoform g precursor NP_001333828.1:p.Gln742His Q (Gln) > H (His) Missense Variant
EGFR transcript variant X1 XM_047419952.1:c.2202G>A Q [CAG] > Q [CAA] Coding Sequence Variant
epidermal growth factor receptor isoform X1 XP_047275908.1:p.Gln734= Q (Gln) > Q (Gln) Synonymous Variant
EGFR transcript variant X1 XM_047419952.1:c.2202G>C Q [CAG] > H [CAC] Coding Sequence Variant
epidermal growth factor receptor isoform X1 XP_047275908.1:p.Gln734His Q (Gln) > H (His) Missense Variant
EGFR transcript variant X1 XM_047419952.1:c.2202G>T Q [CAG] > H [CAT] Coding Sequence Variant
epidermal growth factor receptor isoform X1 XP_047275908.1:p.Gln734His Q (Gln) > H (His) Missense Variant
EGFR transcript variant X2 XM_047419953.1:c.2202G>A Q [CAG] > Q [CAA] Coding Sequence Variant
epidermal growth factor receptor isoform X1 XP_047275909.1:p.Gln734= Q (Gln) > Q (Gln) Synonymous Variant
EGFR transcript variant X2 XM_047419953.1:c.2202G>C Q [CAG] > H [CAC] Coding Sequence Variant
epidermal growth factor receptor isoform X1 XP_047275909.1:p.Gln734His Q (Gln) > H (His) Missense Variant
EGFR transcript variant X2 XM_047419953.1:c.2202G>T Q [CAG] > H [CAT] Coding Sequence Variant
epidermal growth factor receptor isoform X1 XP_047275909.1:p.Gln734His Q (Gln) > H (His) Missense Variant
Gene: EGFR-AS1, EGFR antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
EGFR-AS1 transcript NR_047551.1:n.1201C>T N/A Non Coding Transcript Variant
EGFR-AS1 transcript NR_047551.1:n.1201C>G N/A Non Coding Transcript Variant
EGFR-AS1 transcript NR_047551.1:n.1201C>A N/A Non Coding 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.

Allele: A (allele ID: 54438 )
ClinVar Accession Disease Names Clinical Significance
RCV000038427.6 not specified Benign
RCV000321080.3 Lung carcinoma Benign
RCV001250942.1 Squamous cell lung carcinoma Likely-Benign
RCV001513680.2 EGFR-related lung cancer Benign
RCV001659972.2 Inflammatory skin and bowel disease, neonatal, 2 Benign
RCV001675596.2 not provided Benign
Allele: T (allele ID: 1430245 )
ClinVar Accession Disease Names Clinical Significance
RCV002006641.3 EGFR-related lung cancer Uncertain-Significance
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 G= A C T
GRCh38.p14 chr 7 NC_000007.14:g.55181370= NC_000007.14:g.55181370G>A NC_000007.14:g.55181370G>C NC_000007.14:g.55181370G>T
GRCh37.p13 chr 7 NC_000007.13:g.55249063= NC_000007.13:g.55249063G>A NC_000007.13:g.55249063G>C NC_000007.13:g.55249063G>T
EGFR RefSeqGene (LRG_304) NG_007726.3:g.167339= NG_007726.3:g.167339G>A NG_007726.3:g.167339G>C NG_007726.3:g.167339G>T
EGFR transcript variant 1 NM_005228.5:c.2361= NM_005228.5:c.2361G>A NM_005228.5:c.2361G>C NM_005228.5:c.2361G>T
EGFR transcript variant 1 NM_005228.4:c.2361= NM_005228.4:c.2361G>A NM_005228.4:c.2361G>C NM_005228.4:c.2361G>T
EGFR transcript variant 1 NM_005228.3:c.2361= NM_005228.3:c.2361G>A NM_005228.3:c.2361G>C NM_005228.3:c.2361G>T
EGFR transcript variant 7 NM_001346899.2:c.2226= NM_001346899.2:c.2226G>A NM_001346899.2:c.2226G>C NM_001346899.2:c.2226G>T
EGFR transcript variant 7 NM_001346899.1:c.2226= NM_001346899.1:c.2226G>A NM_001346899.1:c.2226G>C NM_001346899.1:c.2226G>T
EGFR transcript variant 8 NM_001346900.2:c.2202= NM_001346900.2:c.2202G>A NM_001346900.2:c.2202G>C NM_001346900.2:c.2202G>T
EGFR transcript variant 8 NM_001346900.1:c.2202= NM_001346900.1:c.2202G>A NM_001346900.1:c.2202G>C NM_001346900.1:c.2202G>T
EGFR transcript variant EGFRvIII NM_001346941.2:c.1560= NM_001346941.2:c.1560G>A NM_001346941.2:c.1560G>C NM_001346941.2:c.1560G>T
EGFR transcript variant EGFRvIII NM_001346941.1:c.1560= NM_001346941.1:c.1560G>A NM_001346941.1:c.1560G>C NM_001346941.1:c.1560G>T
EGFR transcript variant 6 NM_001346898.2:c.2361= NM_001346898.2:c.2361G>A NM_001346898.2:c.2361G>C NM_001346898.2:c.2361G>T
EGFR transcript variant 6 NM_001346898.1:c.2361= NM_001346898.1:c.2361G>A NM_001346898.1:c.2361G>C NM_001346898.1:c.2361G>T
EGFR transcript variant 5 NM_001346897.2:c.2226= NM_001346897.2:c.2226G>A NM_001346897.2:c.2226G>C NM_001346897.2:c.2226G>T
EGFR transcript variant 5 NM_001346897.1:c.2226= NM_001346897.1:c.2226G>A NM_001346897.1:c.2226G>C NM_001346897.1:c.2226G>T
EGFR transcript variant X1 XM_047419952.1:c.2202= XM_047419952.1:c.2202G>A XM_047419952.1:c.2202G>C XM_047419952.1:c.2202G>T
EGFR transcript variant X2 XM_047419953.1:c.2202= XM_047419953.1:c.2202G>A XM_047419953.1:c.2202G>C XM_047419953.1:c.2202G>T
EGFR-AS1 transcript NR_047551.1:n.1201= NR_047551.1:n.1201C>T NR_047551.1:n.1201C>G NR_047551.1:n.1201C>A
epidermal growth factor receptor isoform a precursor NP_005219.2:p.Gln787= NP_005219.2:p.Gln787= NP_005219.2:p.Gln787His NP_005219.2:p.Gln787His
epidermal growth factor receptor isoform g precursor NP_001333828.1:p.Gln742= NP_001333828.1:p.Gln742= NP_001333828.1:p.Gln742His NP_001333828.1:p.Gln742His
epidermal growth factor receptor isoform h NP_001333829.1:p.Gln734= NP_001333829.1:p.Gln734= NP_001333829.1:p.Gln734His NP_001333829.1:p.Gln734His
epidermal growth factor receptor isoform i precursor NP_001333870.1:p.Gln520= NP_001333870.1:p.Gln520= NP_001333870.1:p.Gln520His NP_001333870.1:p.Gln520His
epidermal growth factor receptor isoform f precursor NP_001333827.1:p.Gln787= NP_001333827.1:p.Gln787= NP_001333827.1:p.Gln787His NP_001333827.1:p.Gln787His
epidermal growth factor receptor isoform e precursor NP_001333826.1:p.Gln742= NP_001333826.1:p.Gln742= NP_001333826.1:p.Gln742His NP_001333826.1:p.Gln742His
epidermal growth factor receptor isoform X1 XP_047275908.1:p.Gln734= XP_047275908.1:p.Gln734= XP_047275908.1:p.Gln734His XP_047275908.1:p.Gln734His
epidermal growth factor receptor isoform X1 XP_047275909.1:p.Gln734= XP_047275909.1:p.Gln734= XP_047275909.1:p.Gln734His XP_047275909.1:p.Gln734His
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#.

140 SubSNP, 27 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 LEE ss1524562 Oct 05, 2000 (86)
2 LEE ss4415417 May 29, 2002 (108)
3 WUGSC_SSAHASNP ss14121776 Dec 05, 2003 (126)
4 CGAP-GAI ss16263880 Feb 28, 2004 (126)
5 CSHL-HAPMAP ss17933589 Feb 27, 2004 (126)
6 PERLEGEN ss23461029 Sep 20, 2004 (126)
7 EGP_SNPS ss24778961 Sep 20, 2004 (126)
8 ABI ss43094183 Mar 11, 2006 (126)
9 SI_EXO ss52067157 Oct 16, 2006 (127)
10 ILLUMINA ss65740167 Oct 16, 2006 (127)
11 EGP_SNPS ss66861655 Dec 01, 2006 (127)
12 CANCER-GENOME ss74802379 Dec 07, 2007 (129)
13 HGSV ss77320037 Dec 07, 2007 (129)
14 HGSV ss85017386 Dec 14, 2007 (130)
15 CORNELL ss86269798 Mar 23, 2008 (129)
16 BCMHGSC_JDW ss93684223 Mar 24, 2008 (129)
17 HUMANGENOME_JCVI ss98280473 Feb 04, 2009 (130)
18 BGI ss104430036 Dec 01, 2009 (131)
19 PHARMGKB_PAAR-UCHI ss105110075 Feb 04, 2009 (130)
20 1000GENOMES ss112044216 Jan 25, 2009 (130)
21 ILLUMINA-UK ss116097662 Feb 14, 2009 (130)
22 ENSEMBL ss142664329 Dec 01, 2009 (131)
23 ENSEMBL ss143002862 Dec 01, 2009 (131)
24 SEATTLESEQ ss159714800 Dec 01, 2009 (131)
25 ILLUMINA ss159903775 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss162355178 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss166625159 Jul 04, 2010 (132)
28 BUSHMAN ss203360709 Jul 04, 2010 (132)
29 1000GENOMES ss212046487 Jul 14, 2010 (132)
30 1000GENOMES ss223092668 Jul 14, 2010 (132)
31 1000GENOMES ss233988791 Jul 15, 2010 (132)
32 1000GENOMES ss240940108 Jul 15, 2010 (132)
33 GMI ss279318753 May 04, 2012 (137)
34 GMI ss285632487 Apr 25, 2013 (138)
35 PJP ss293873711 May 09, 2011 (134)
36 NHLBI-ESP ss342235809 May 09, 2011 (134)
37 ILLUMINA ss479680970 Sep 08, 2015 (146)
38 ILLUMINA ss482283259 May 04, 2012 (137)
39 ILLUMINA ss485456160 May 04, 2012 (137)
40 1000GENOMES ss490945938 May 04, 2012 (137)
41 CLINSEQ_SNP ss491906494 May 04, 2012 (137)
42 ILLUMINA ss534578333 Sep 08, 2015 (146)
43 TISHKOFF ss560020602 Apr 25, 2013 (138)
44 SSMP ss654383955 Apr 25, 2013 (138)
45 ILLUMINA ss779491194 Sep 08, 2015 (146)
46 ILLUMINA ss781710098 Sep 08, 2015 (146)
47 ILLUMINA ss834961318 Sep 08, 2015 (146)
48 LMM-PCPGM ss836317040 Nov 27, 2013 (138)
49 JMKIDD_LAB ss974464379 Aug 21, 2014 (142)
50 EVA-GONL ss984303175 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1067488412 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1074630855 Aug 21, 2014 (142)
53 1000GENOMES ss1325217930 Aug 21, 2014 (142)
54 DDI ss1431130856 Apr 01, 2015 (144)
55 EVA_FINRISK ss1584052633 Apr 01, 2015 (144)
56 EVA_DECODE ss1593883812 Apr 01, 2015 (144)
57 EVA_UK10K_ALSPAC ss1618262516 Apr 01, 2015 (144)
58 EVA_UK10K_TWINSUK ss1661256549 Apr 01, 2015 (144)
59 EVA_EXAC ss1688745702 Apr 01, 2015 (144)
60 EVA_MGP ss1711163743 Apr 01, 2015 (144)
61 HAMMER_LAB ss1805015052 Sep 08, 2015 (146)
62 WEILL_CORNELL_DGM ss1927546725 Feb 12, 2016 (147)
63 GENOMED ss1966658513 Feb 12, 2016 (147)
64 JJLAB ss2024460166 Sep 14, 2016 (149)
65 USC_VALOUEV ss2152655954 Dec 20, 2016 (150)
66 HUMAN_LONGEVITY ss2294217561 Dec 20, 2016 (150)
67 ILLUMINA ss2634609883 Nov 08, 2017 (151)
68 GRF ss2708323052 Nov 08, 2017 (151)
69 GNOMAD ss2736449362 Nov 08, 2017 (151)
70 GNOMAD ss2747825596 Nov 08, 2017 (151)
71 GNOMAD ss2853377601 Nov 08, 2017 (151)
72 SWEGEN ss3001152883 Nov 08, 2017 (151)
73 EVA_SAMSUNG_MC ss3023062922 Nov 08, 2017 (151)
74 BIOINF_KMB_FNS_UNIBA ss3026026429 Nov 08, 2017 (151)
75 CSHL ss3347597637 Nov 08, 2017 (151)
76 ILLUMINA ss3629823416 Oct 12, 2018 (152)
77 ILLUMINA ss3632517137 Oct 12, 2018 (152)
78 ILLUMINA ss3636855046 Oct 12, 2018 (152)
79 OMUKHERJEE_ADBS ss3646352982 Oct 12, 2018 (152)
80 URBANLAB ss3648637018 Oct 12, 2018 (152)
81 EGCUT_WGS ss3669078603 Jul 13, 2019 (153)
82 EVA_DECODE ss3719737966 Jul 13, 2019 (153)
83 ACPOP ss3734653562 Jul 13, 2019 (153)
84 EVA ss3766593686 Jul 13, 2019 (153)
85 PACBIO ss3785824290 Jul 13, 2019 (153)
86 PACBIO ss3791125584 Jul 13, 2019 (153)
87 PACBIO ss3796005564 Jul 13, 2019 (153)
88 KHV_HUMAN_GENOMES ss3809753344 Jul 13, 2019 (153)
89 EVA ss3824277165 Apr 26, 2020 (154)
90 EVA ss3825524129 Apr 26, 2020 (154)
91 EVA ss3825539990 Apr 26, 2020 (154)
92 EVA ss3825720179 Apr 26, 2020 (154)
93 EVA ss3830585782 Apr 26, 2020 (154)
94 EVA ss3838783084 Apr 26, 2020 (154)
95 EVA ss3844235500 Apr 26, 2020 (154)
96 SGDP_PRJ ss3867317995 Apr 26, 2020 (154)
97 KRGDB ss3914396600 Apr 26, 2020 (154)
98 KOGIC ss3961507699 Apr 26, 2020 (154)
99 FSA-LAB ss3984367631 Apr 26, 2021 (155)
100 FSA-LAB ss3984367632 Apr 26, 2021 (155)
101 EVA ss3984588810 Apr 26, 2021 (155)
102 EVA ss3985298625 Apr 26, 2021 (155)
103 EVA ss3986039617 Apr 26, 2021 (155)
104 EVA ss3986382885 Apr 26, 2021 (155)
105 TOPMED ss4746722701 Apr 26, 2021 (155)
106 TOMMO_GENOMICS ss5183240605 Apr 26, 2021 (155)
107 CPQ_GEN_INCA ss5236855147 Apr 26, 2021 (155)
108 CPQ_GEN_INCA ss5236861046 Apr 26, 2021 (155)
109 EVA ss5237033464 Apr 26, 2021 (155)
110 EVA ss5237196188 Apr 26, 2021 (155)
111 EVA ss5237649199 Oct 14, 2022 (156)
112 1000G_HIGH_COVERAGE ss5272953083 Oct 14, 2022 (156)
113 TRAN_CS_UWATERLOO ss5314419760 Oct 14, 2022 (156)
114 EVA ss5315250604 Oct 14, 2022 (156)
115 EVA ss5373700165 Oct 14, 2022 (156)
116 CSS-BFX ss5442108862 Oct 14, 2022 (156)
117 HUGCELL_USP ss5470117605 Oct 14, 2022 (156)
118 EVA ss5508972075 Oct 14, 2022 (156)
119 1000G_HIGH_COVERAGE ss5561165409 Oct 14, 2022 (156)
120 EVA ss5623892170 Oct 14, 2022 (156)
121 EVA ss5623940242 Oct 14, 2022 (156)
122 EVA ss5624166844 Oct 14, 2022 (156)
123 SANFORD_IMAGENETICS ss5642996944 Oct 14, 2022 (156)
124 TOMMO_GENOMICS ss5723101635 Oct 14, 2022 (156)
125 EVA ss5799431699 Oct 14, 2022 (156)
126 EVA ss5800057883 Oct 14, 2022 (156)
127 EVA ss5800139224 Oct 14, 2022 (156)
128 YY_MCH ss5808622700 Oct 14, 2022 (156)
129 EVA ss5822855351 Oct 14, 2022 (156)
130 GDLABSOGANGLF ss5847150678 Oct 14, 2022 (156)
131 EVA ss5848682757 Oct 14, 2022 (156)
132 EVA ss5855906041 Oct 14, 2022 (156)
133 EVA ss5858997080 Oct 14, 2022 (156)
134 EVA ss5935865294 Oct 14, 2022 (156)
135 EVA ss5935865295 Oct 14, 2022 (156)
136 EVA ss5936535075 Oct 14, 2022 (156)
137 EVA ss5972218251 Oct 14, 2022 (156)
138 EVA ss5979259482 Oct 14, 2022 (156)
139 EVA ss5980434626 Oct 14, 2022 (156)
140 EVA ss5981242776 Oct 14, 2022 (156)
141 1000Genomes NC_000007.13 - 55249063 Oct 12, 2018 (152)
142 1000Genomes_30x NC_000007.14 - 55181370 Oct 14, 2022 (156)
143 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 55249063 Oct 12, 2018 (152)
144 Genetic variation in the Estonian population NC_000007.13 - 55249063 Oct 12, 2018 (152)
145 ExAC NC_000007.13 - 55249063 Oct 12, 2018 (152)
146 FINRISK NC_000007.13 - 55249063 Apr 26, 2020 (154)
147 gnomAD - Genomes NC_000007.14 - 55181370 Apr 26, 2021 (155)
148 gnomAD - Exomes NC_000007.13 - 55249063 Jul 13, 2019 (153)
149 GO Exome Sequencing Project NC_000007.13 - 55249063 Oct 12, 2018 (152)
150 Genome of the Netherlands Release 5 NC_000007.13 - 55249063 Apr 26, 2020 (154)
151 HapMap NC_000007.14 - 55181370 Apr 26, 2020 (154)
152 KOREAN population from KRGDB NC_000007.13 - 55249063 Apr 26, 2020 (154)
153 Korean Genome Project NC_000007.14 - 55181370 Apr 26, 2020 (154)
154 Medical Genome Project healthy controls from Spanish population NC_000007.13 - 55249063 Apr 26, 2020 (154)
155 Northern Sweden NC_000007.13 - 55249063 Jul 13, 2019 (153)
156 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 55249063 Apr 26, 2021 (155)
157 CNV burdens in cranial meningiomas NC_000007.13 - 55249063 Apr 26, 2021 (155)
158 PharmGKB Aggregated NC_000007.14 - 55181370 Apr 26, 2020 (154)
159 Qatari NC_000007.13 - 55249063 Apr 26, 2020 (154)
160 SGDP_PRJ NC_000007.13 - 55249063 Apr 26, 2020 (154)
161 Siberian NC_000007.13 - 55249063 Apr 26, 2020 (154)
162 8.3KJPN NC_000007.13 - 55249063 Apr 26, 2021 (155)
163 14KJPN NC_000007.14 - 55181370 Oct 14, 2022 (156)
164 TopMed NC_000007.14 - 55181370 Apr 26, 2021 (155)
165 UK 10K study - Twins NC_000007.13 - 55249063 Oct 12, 2018 (152)
166 A Vietnamese Genetic Variation Database NC_000007.13 - 55249063 Jul 13, 2019 (153)
167 ALFA NC_000007.14 - 55181370 Apr 26, 2021 (155)
168 ClinVar RCV000038427.6 Oct 14, 2022 (156)
169 ClinVar RCV000321080.3 Apr 26, 2021 (155)
170 ClinVar RCV001250942.1 Apr 26, 2021 (155)
171 ClinVar RCV001513680.2 Oct 14, 2022 (156)
172 ClinVar RCV001659972.2 Oct 14, 2022 (156)
173 ClinVar RCV001675596.2 Oct 14, 2022 (156)
174 ClinVar RCV002006641.3 Oct 14, 2022 (156)
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)
rs2229065 Jan 04, 2002 (102)
rs3190467 Oct 09, 2002 (108)
rs10251977 Mar 11, 2006 (126)
rs11557529 Apr 05, 2004 (121)
rs17337198 Mar 11, 2006 (126)
rs58115520 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77320037, ss85017386 NC_000007.11:55023271:G:A NC_000007.14:55181369:G:A (self)
ss93684223, ss112044216, ss116097662, ss162355178, ss166625159, ss203360709, ss212046487, ss279318753, ss285632487, ss293873711, ss485456160, ss491906494, ss1593883812 NC_000007.12:55216556:G:A NC_000007.14:55181369:G:A (self)
37190382, 20743958, 14816851, 8811690, 49094, 5611369, 735130, 9252953, 21573994, 279503, 7938427, 524552, 138232, 9588655, 19334975, 5172308, 41209912, 20743958, 4625355, ss223092668, ss233988791, ss240940108, ss342235809, ss479680970, ss482283259, ss490945938, ss534578333, ss560020602, ss654383955, ss779491194, ss781710098, ss834961318, ss974464379, ss984303175, ss1067488412, ss1074630855, ss1325217930, ss1431130856, ss1584052633, ss1618262516, ss1661256549, ss1688745702, ss1711163743, ss1805015052, ss1927546725, ss1966658513, ss2024460166, ss2152655954, ss2634609883, ss2708323052, ss2736449362, ss2747825596, ss2853377601, ss3001152883, ss3023062922, ss3347597637, ss3629823416, ss3632517137, ss3636855046, ss3646352982, ss3669078603, ss3734653562, ss3766593686, ss3785824290, ss3791125584, ss3796005564, ss3824277165, ss3825524129, ss3825539990, ss3825720179, ss3830585782, ss3838783084, ss3867317995, ss3914396600, ss3984367631, ss3984367632, ss3984588810, ss3985298625, ss3986039617, ss3986382885, ss5183240605, ss5236855147, ss5236861046, ss5315250604, ss5373700165, ss5442108862, ss5508972075, ss5623892170, ss5623940242, ss5624166844, ss5642996944, ss5799431699, ss5800057883, ss5800139224, ss5822855351, ss5847150678, ss5848682757, ss5935865294, ss5935865295, ss5936535075, ss5972218251, ss5979259482, ss5980434626, ss5981242776 NC_000007.13:55249062:G:A NC_000007.14:55181369:G:A (self)
RCV000038427.6, RCV000321080.3, RCV001250942.1, RCV001513680.2, RCV001659972.2, RCV001675596.2, 48691344, 262084352, 3407122, 17885700, 11288, 56938739, 584100260, 12037520523, ss836317040, ss2294217561, ss3026026429, ss3648637018, ss3719737966, ss3809753344, ss3844235500, ss3961507699, ss4746722701, ss5237033464, ss5237196188, ss5237649199, ss5272953083, ss5314419760, ss5470117605, ss5561165409, ss5723101635, ss5808622700, ss5855906041, ss5858997080 NC_000007.14:55181369:G:A NC_000007.14:55181369:G:A (self)
ss14121776, ss17933589, ss52067157 NT_033968.5:4838431:G:A NC_000007.14:55181369:G:A (self)
ss1524562, ss4415417, ss16263880, ss23461029, ss24778961, ss43094183, ss65740167, ss66861655, ss74802379, ss86269798, ss98280473, ss104430036, ss105110075, ss142664329, ss143002862, ss159714800, ss159903775 NT_033968.6:4838431:G:A NC_000007.14:55181369:G:A (self)
ss5935865294 NC_000007.13:55249062:G:C NC_000007.14:55181369:G:C
12037520523 NC_000007.14:55181369:G:C NC_000007.14:55181369:G:C (self)
ss5935865294 NC_000007.13:55249062:G:T NC_000007.14:55181369:G:T
RCV002006641.3 NC_000007.14:55181369:G:T NC_000007.14:55181369:G:T
Help

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

18 citations for rs1050171
PMID Title Author Year Journal
17409930 Mutation and polymorphism in the EGFR-TK domain associated with lung cancer. Zhang W et al. 2006 Journal of thoracic oncology
17875215 Epidermal growth factor receptor (EGFR) is transcriptionally induced by the Y-box binding protein-1 (YB-1) and can be inhibited with Iressa in basal-like breast cancer, providing a potential target for therapy. Stratford AL et al. 2007 Breast cancer research
17956637 Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study. Choi JE et al. 2007 BMC cancer
19563658 Molecular characterization of EGFR, PDGFRA and VEGFR2 in cervical adenosquamous carcinoma. Longatto-Filho A et al. 2009 BMC cancer
23244191 Epidermal growth factor receptor (EGFR) mutations and expression in squamous cell carcinoma of the esophagus in central Asia. Abedi-Ardekani B et al. 2012 BMC cancer
23251617 Genetic variations in the transforming growth factor beta pathway as predictors of bladder cancer risk. Wei H et al. 2012 PloS one
23450128 Evaluation of phosphatidylinositol-3-kinase catalytic subunit (PIK3CA) and epidermal growth factor receptor (EGFR) gene mutations in pancreaticobiliary adenocarcinoma. Weiss GA et al. 2013 Journal of gastrointestinal oncology
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
26666825 A synonymous EGFR polymorphism predicting responsiveness to anti-EGFR therapy in metastatic colorectal cancer patients. Bonin S et al. 2016 Tumour biology
26762143 Tubular Pyloric Gland Adenoma of the Left and Right Hepatic Ducts: Report of a Unique Case With Immunohistochemical and Molecular Studies. Hatzibougias DI et al. 2016 International journal of surgical pathology
26870997 The status of epidermal growth factor receptor in borderline ovarian tumours. Showeil R et al. 2016 Oncotarget
27750395 Synonymous EGFR variant p.Q787Q is neither prognostic nor predictive in patients with lung adenocarcinoma. Leichsenring J et al. 2017 Genes, chromosomes & cancer
30305059 Combining genomic analyses with tumour-derived slice cultures for the characterization of an EGFR-activating kinase mutation in a case of glioblastoma. Loriguet L et al. 2018 BMC cancer
31906817 Association between epidermal growth factor (EGF) and EGF receptor gene polymorphisms and end-stage renal disease and acute renal allograft rejection in a Korean population. Kim BW et al. 2020 Renal failure
32362623 Rare mutations of epidermal growth factor receptor in epidermal growth factor receptor-tyrosine kinase inhibitor-naive non-small cell lung carcinoma and the response to erlotinib therapy. Sari M et al. 2020 Journal of cancer research and therapeutics
32368160 Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis. Jastania RA et al. 2020 International medical case reports journal
33888812 Genetic variant rs10251977 (G>A) in EGFR-AS1 modulates the expression of EGFR isoforms A and D. Dhamodharan S et al. 2021 Scientific reports
34449663 Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine. Lange M et al. 2021 Non-coding RNA
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.post761+d5e8e07