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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.

rs142257947

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:1602545 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000128 (34/264690, TOPMED)
A=0.000084 (21/251216, GnomAD_exome)
A=0.000135 (19/140284, GnomAD) (+ 5 more)
A=0.000091 (11/121094, ExAC)
A=0.00022 (9/41782, ALFA)
A=0.00023 (3/12998, GO-ESP)
A=0.0002 (1/6404, 1000G_30x)
A=0.0002 (1/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
IFT140 : Missense Variant
LOC105371046 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 58142 G=0.99981 A=0.00019
European Sub 42784 G=0.99979 A=0.00021
African Sub 7756 G=1.0000 A=0.0000
African Others Sub 298 G=1.000 A=0.000
African American Sub 7458 G=1.0000 A=0.0000
Asian Sub 112 G=1.000 A=0.000
East Asian Sub 86 G=1.00 A=0.00
Other Asian Sub 26 G=1.00 A=0.00
Latin American 1 Sub 498 G=1.000 A=0.000
Latin American 2 Sub 628 G=1.000 A=0.000
South Asian Sub 98 G=1.00 A=0.00
Other Sub 6266 G=0.9997 A=0.0003


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=0.999872 A=0.000128
gnomAD - Exomes Global Study-wide 251216 G=0.999916 A=0.000084
gnomAD - Exomes European Sub 135162 G=0.999859 A=0.000141
gnomAD - Exomes Asian Sub 49010 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34588 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16248 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10076 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6132 G=0.9997 A=0.0003
gnomAD - Genomes Global Study-wide 140284 G=0.999865 A=0.000135
gnomAD - Genomes European Sub 75962 G=0.99982 A=0.00018
gnomAD - Genomes African Sub 42050 G=0.99990 A=0.00010
gnomAD - Genomes American Sub 13666 G=0.99993 A=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 G=1.0000 A=0.0000
ExAC Global Study-wide 121094 G=0.999909 A=0.000091
ExAC Europe Sub 73116 G=0.99986 A=0.00014
ExAC Asian Sub 25150 G=1.00000 A=0.00000
ExAC American Sub 11562 G=1.00000 A=0.00000
ExAC African Sub 10366 G=1.00000 A=0.00000
ExAC Other Sub 900 G=0.999 A=0.001
Allele Frequency Aggregator Total Global 41782 G=0.99978 A=0.00022
Allele Frequency Aggregator European Sub 32696 G=0.99979 A=0.00021
Allele Frequency Aggregator Other Sub 4832 G=0.9996 A=0.0004
Allele Frequency Aggregator African Sub 2918 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 498 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
GO Exome Sequencing Project Global Study-wide 12998 G=0.99977 A=0.00023
GO Exome Sequencing Project European American Sub 8600 G=0.9997 A=0.0003
GO Exome Sequencing Project African American Sub 4398 G=1.0000 A=0.0000
1000Genomes_30x Global Study-wide 6404 G=0.9998 A=0.0002
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9992 A=0.0008
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9998 A=0.0002
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
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 16 NC_000016.10:g.1602545G>A
GRCh37.p13 chr 16 NC_000016.9:g.1652546G>A
IFT140 RefSeqGene NG_032783.1:g.14564C>T
Gene: IFT140, intraflagellar transport 140 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
IFT140 transcript NM_014714.4:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog NP_055529.2:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X25 XM_006720992.4:c. N/A Genic Upstream Transcript Variant
IFT140 transcript variant X9 XM_011522767.2:c. N/A Genic Upstream Transcript Variant
IFT140 transcript variant X10 XM_047434971.1:c. N/A Genic Upstream Transcript Variant
IFT140 transcript variant X1 XM_006720991.4:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_006721054.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X2 XM_047434965.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_047290921.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X3 XM_047434966.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_047290922.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X4 XM_006720990.4:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_006721053.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X5 XM_047434967.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_047290923.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X6 XM_047434968.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_047290924.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X7 XM_047434969.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X1 XP_047290925.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X8 XM_047434970.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X2 XP_047290926.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X11 XM_011522769.4:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X5 XP_011521071.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X12 XM_047434972.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X6 XP_047290928.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X13 XM_005255725.6:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X7 XP_005255782.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X14 XM_047434973.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X7 XP_047290929.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X15 XM_011522771.4:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X8 XP_011521073.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X16 XM_047434974.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X8 XP_047290930.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X17 XM_047434975.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X8 XP_047290931.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X18 XM_011522772.4:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X9 XP_011521074.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X19 XM_047434976.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X9 XP_047290932.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X20 XM_005255726.5:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X10 XP_005255783.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X21 XM_047434977.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X10 XP_047290933.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X22 XM_047434978.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X10 XP_047290934.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X23 XM_047434979.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X10 XP_047290935.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
IFT140 transcript variant X24 XM_047434980.1:c.194C>T A [GCT] > V [GTT] Coding Sequence Variant
intraflagellar transport protein 140 homolog isoform X10 XP_047290936.1:p.Ala65Val A (Ala) > V (Val) Missense Variant
Gene: LOC105371046, uncharacterized LOC105371046 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105371046 transcript NR_135176.1:n. 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.

Allele: A (allele ID: 843203 )
ClinVar Accession Disease Names Clinical Significance
RCV001039318.3 Saldino-Mainzer syndrome 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
GRCh38.p14 chr 16 NC_000016.10:g.1602545= NC_000016.10:g.1602545G>A
GRCh37.p13 chr 16 NC_000016.9:g.1652546= NC_000016.9:g.1652546G>A
IFT140 RefSeqGene NG_032783.1:g.14564= NG_032783.1:g.14564C>T
IFT140 transcript NM_014714.4:c.194= NM_014714.4:c.194C>T
IFT140 transcript NM_014714.3:c.194= NM_014714.3:c.194C>T
IFT140 transcript variant X13 XM_005255725.6:c.194= XM_005255725.6:c.194C>T
IFT140 transcript variant X8 XM_005255725.5:c.194= XM_005255725.5:c.194C>T
IFT140 transcript variant X8 XM_005255725.4:c.194= XM_005255725.4:c.194C>T
IFT140 transcript variant X8 XM_005255725.3:c.194= XM_005255725.3:c.194C>T
IFT140 transcript variant X2 XM_005255725.2:c.194= XM_005255725.2:c.194C>T
IFT140 transcript variant X2 XM_005255725.1:c.194= XM_005255725.1:c.194C>T
IFT140 transcript variant X20 XM_005255726.5:c.194= XM_005255726.5:c.194C>T
IFT140 transcript variant X11 XM_005255726.4:c.194= XM_005255726.4:c.194C>T
IFT140 transcript variant X11 XM_005255726.3:c.194= XM_005255726.3:c.194C>T
IFT140 transcript variant X11 XM_005255726.2:c.194= XM_005255726.2:c.194C>T
IFT140 transcript variant X3 XM_005255726.1:c.194= XM_005255726.1:c.194C>T
IFT140 transcript variant X18 XM_011522772.4:c.194= XM_011522772.4:c.194C>T
IFT140 transcript variant X10 XM_011522772.3:c.194= XM_011522772.3:c.194C>T
IFT140 transcript variant X10 XM_011522772.2:c.194= XM_011522772.2:c.194C>T
IFT140 transcript variant X10 XM_011522772.1:c.194= XM_011522772.1:c.194C>T
IFT140 transcript variant X1 XM_006720991.4:c.194= XM_006720991.4:c.194C>T
IFT140 transcript variant X1 XM_006720991.3:c.194= XM_006720991.3:c.194C>T
IFT140 transcript variant X2 XM_006720991.2:c.194= XM_006720991.2:c.194C>T
IFT140 transcript variant X6 XM_006720991.1:c.194= XM_006720991.1:c.194C>T
IFT140 transcript variant X4 XM_006720990.4:c.194= XM_006720990.4:c.194C>T
IFT140 transcript variant X2 XM_006720990.3:c.194= XM_006720990.3:c.194C>T
IFT140 transcript variant X1 XM_006720990.2:c.194= XM_006720990.2:c.194C>T
IFT140 transcript variant X5 XM_006720990.1:c.194= XM_006720990.1:c.194C>T
IFT140 transcript variant X15 XM_011522771.4:c.194= XM_011522771.4:c.194C>T
IFT140 transcript variant X9 XM_011522771.3:c.194= XM_011522771.3:c.194C>T
IFT140 transcript variant X9 XM_011522771.2:c.194= XM_011522771.2:c.194C>T
IFT140 transcript variant X9 XM_011522771.1:c.194= XM_011522771.1:c.194C>T
IFT140 transcript variant X11 XM_011522769.4:c.194= XM_011522769.4:c.194C>T
IFT140 transcript variant X7 XM_011522769.3:c.194= XM_011522769.3:c.194C>T
IFT140 transcript variant X7 XM_011522769.2:c.194= XM_011522769.2:c.194C>T
IFT140 transcript variant X7 XM_011522769.1:c.194= XM_011522769.1:c.194C>T
IFT140 transcript variant X19 XM_047434976.1:c.194= XM_047434976.1:c.194C>T
IFT140 transcript variant X6 XM_047434968.1:c.194= XM_047434968.1:c.194C>T
IFT140 transcript variant X5 XM_047434967.1:c.194= XM_047434967.1:c.194C>T
IFT140 transcript variant X12 XM_047434972.1:c.194= XM_047434972.1:c.194C>T
IFT140 transcript variant X3 XM_047434966.1:c.194= XM_047434966.1:c.194C>T
IFT140 transcript variant X7 XM_047434969.1:c.194= XM_047434969.1:c.194C>T
IFT140 transcript variant X8 XM_047434970.1:c.194= XM_047434970.1:c.194C>T
IFT140 transcript variant X2 XM_047434965.1:c.194= XM_047434965.1:c.194C>T
IFT140 transcript variant X16 XM_047434974.1:c.194= XM_047434974.1:c.194C>T
IFT140 transcript variant X21 XM_047434977.1:c.194= XM_047434977.1:c.194C>T
IFT140 transcript variant X14 XM_047434973.1:c.194= XM_047434973.1:c.194C>T
IFT140 transcript variant X17 XM_047434975.1:c.194= XM_047434975.1:c.194C>T
IFT140 transcript variant X22 XM_047434978.1:c.194= XM_047434978.1:c.194C>T
IFT140 transcript variant X24 XM_047434980.1:c.194= XM_047434980.1:c.194C>T
IFT140 transcript variant X23 XM_047434979.1:c.194= XM_047434979.1:c.194C>T
intraflagellar transport protein 140 homolog NP_055529.2:p.Ala65= NP_055529.2:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X7 XP_005255782.1:p.Ala65= XP_005255782.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X10 XP_005255783.1:p.Ala65= XP_005255783.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X9 XP_011521074.1:p.Ala65= XP_011521074.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X1 XP_006721054.1:p.Ala65= XP_006721054.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X1 XP_006721053.1:p.Ala65= XP_006721053.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X8 XP_011521073.1:p.Ala65= XP_011521073.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X5 XP_011521071.1:p.Ala65= XP_011521071.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X9 XP_047290932.1:p.Ala65= XP_047290932.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X1 XP_047290924.1:p.Ala65= XP_047290924.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X1 XP_047290923.1:p.Ala65= XP_047290923.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X6 XP_047290928.1:p.Ala65= XP_047290928.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X1 XP_047290922.1:p.Ala65= XP_047290922.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X1 XP_047290925.1:p.Ala65= XP_047290925.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X2 XP_047290926.1:p.Ala65= XP_047290926.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X1 XP_047290921.1:p.Ala65= XP_047290921.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X8 XP_047290930.1:p.Ala65= XP_047290930.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X10 XP_047290933.1:p.Ala65= XP_047290933.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X7 XP_047290929.1:p.Ala65= XP_047290929.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X8 XP_047290931.1:p.Ala65= XP_047290931.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X10 XP_047290934.1:p.Ala65= XP_047290934.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X10 XP_047290936.1:p.Ala65= XP_047290936.1:p.Ala65Val
intraflagellar transport protein 140 homolog isoform X10 XP_047290935.1:p.Ala65= XP_047290935.1:p.Ala65Val
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#.

17 SubSNP, 8 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342416109 May 09, 2011 (134)
2 1000GENOMES ss489065021 May 04, 2012 (137)
3 EXOME_CHIP ss491501950 May 04, 2012 (137)
4 1000GENOMES ss1355017609 Aug 21, 2014 (142)
5 EVA_EXAC ss1692070926 Apr 01, 2015 (144)
6 JJLAB ss2028584951 Sep 14, 2016 (149)
7 HUMAN_LONGEVITY ss2209898536 Dec 20, 2016 (150)
8 GNOMAD ss2741623787 Nov 08, 2017 (151)
9 GNOMAD ss2749424721 Nov 08, 2017 (151)
10 GNOMAD ss2939312119 Nov 08, 2017 (151)
11 AFFY ss2985056013 Nov 08, 2017 (151)
12 ILLUMINA ss3653828348 Oct 12, 2018 (152)
13 EVA ss3824969960 Apr 27, 2020 (154)
14 TOPMED ss5004750635 Apr 26, 2021 (155)
15 EVA ss5421741274 Oct 16, 2022 (156)
16 1000G_HIGH_COVERAGE ss5601891719 Oct 16, 2022 (156)
17 EVA ss5845981045 Oct 16, 2022 (156)
18 1000Genomes NC_000016.9 - 1652546 Oct 12, 2018 (152)
19 1000Genomes_30x NC_000016.10 - 1602545 Oct 16, 2022 (156)
20 ExAC NC_000016.9 - 1652546 Oct 12, 2018 (152)
21 gnomAD - Genomes NC_000016.10 - 1602545 Apr 26, 2021 (155)
22 gnomAD - Exomes NC_000016.9 - 1652546 Jul 13, 2019 (153)
23 GO Exome Sequencing Project NC_000016.9 - 1652546 Oct 12, 2018 (152)
24 TopMed NC_000016.10 - 1602545 Apr 26, 2021 (155)
25 ALFA NC_000016.10 - 1602545 Apr 26, 2021 (155)
26 ClinVar RCV001039318.3 Oct 16, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
68143889, 2462291, 10896106, 1427184, ss342416109, ss489065021, ss491501950, ss1355017609, ss1692070926, ss2028584951, ss2741623787, ss2749424721, ss2939312119, ss2985056013, ss3653828348, ss3824969960, ss5421741274, ss5845981045 NC_000016.9:1652545:G:A NC_000016.10:1602544:G:A (self)
RCV001039318.3, 89417654, 480273397, 220296296, 11233608827, ss2209898536, ss5004750635, ss5601891719 NC_000016.10:1602544:G:A NC_000016.10:1602544:G:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs142257947

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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