rs2287949 - SNP

Select item 22879491.

rs2287949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:33954406 (GRCh38)
5:33954511 (GRCh37)
Canonical SPDI:: NC_000005.10:33954405:T:A,NC_000005.10:33954405:T:C,NC_000005.10:33954405:T:G
Gene:: SLC45A2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.025365/7530 (ALFA)
T=0./0 (FINRISK)
G=0./0 (KOREAN)
T=0.00501/5 (GoNL)
T=0.007265/28 (ALSPAC)
T=0.007282/27 (TWINSUK)
T=0.008482/38 (Estonian)
T=0.013333/8 (NorthernSweden)
T=0.025/1 (GENOME_DK)
T=0.04075/530 (GoESP)
T=0.048773/6839 (GnomAD)
T=0.052434/28 (MGP)
T=0.064392/17044 (TOPMED)
T=0.100607/25276 (GnomAD_exomes)
T=0.103234/12515 (ExAC)
T=0.115385/6 (Siberian)
T=0.119048/10 (PRJEB36033)
T=0.121918/9594 (PAGE_STUDY)
T=0.163335/818 (1000Genomes)
T=0.164122/86 (SGDP_PRJ)
T=0.168617/317 (HapMap)
T=0.212121/168 (PRJEB37584)
T=0.24918/152 (Vietnamese)
T=0.270755/4538 (TOMMO)
T=0.291667/63 (Qatari)
HGVS:: NC_000005.10:g.33954406T>A, NC_000005.10:g.33954406T>C, NC_000005.10:g.33954406T>G, NC_000005.9:g.33954511T>A, NC_000005.9:g.33954511T>C, NC_000005.9:g.33954511T>G, NG_011691.2:g.35270A>T, NG_011691.2:g.35270A>G, NG_011691.2:g.35270A>C, NM_016180.5:c.987A>T, NM_016180.5:c.987A>G, NM_016180.5:c.987A>C, NM_016180.4:c.987A>T, NM_016180.4:c.987A>G, NM_016180.4:c.987A>C, NM_016180.3:c.987G>A, NM_016180.3:c.987G>T, NM_016180.3:c.987G>C, NM_001012509.4:c.987A>T, NM_001012509.4:c.987A>G, NM_001012509.4:c.987A>C, NM_001012509.3:c.987A>T, NM_001012509.3:c.987A>G, NM_001012509.3:c.987A>C, NM_001012509.2:c.987G>A, NM_001012509.2:c.987G>T, NM_001012509.2:c.987G>C, NM_001297417.4:c.661A>T, NM_001297417.4:c.661A>G, NM_001297417.4:c.661A>C, NM_001297417.3:c.661A>T, NM_001297417.3:c.661A>G, NM_001297417.3:c.661A>C, NM_001297417.2:c.661A>T, NM_001297417.2:c.661A>G, NM_001297417.2:c.661A>C, NM_001297417.1:c.661G>A, NM_001297417.1:c.661G>T, NM_001297417.1:c.661G>C, NT_187551.1:g.155728T>A, NT_187551.1:g.155728T>C, NT_187551.1:g.155728T>G, XM_047417259.1:c.747A>T, XM_047417259.1:c.747A>G, XM_047417259.1:c.747A>C, NP_001284346.2:p.Ser221Cys, NP_001284346.2:p.Ser221Gly, NP_001284346.2:p.Ser221Arg

PubMed LitVar

Select item 612461712.

rs61246171 has merged into rs2287949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:33954406 (GRCh38)
5:33954511 (GRCh37)
Canonical SPDI:: NC_000005.10:33954405:T:A,NC_000005.10:33954405:T:C,NC_000005.10:33954405:T:G
Gene:: SLC45A2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.025365/7530 (ALFA)
T=0./0 (FINRISK)
G=0./0 (KOREAN)
T=0.00501/5 (GoNL)
T=0.007265/28 (ALSPAC)
T=0.007282/27 (TWINSUK)
T=0.008482/38 (Estonian)
T=0.013333/8 (NorthernSweden)
T=0.025/1 (GENOME_DK)
T=0.04075/530 (GoESP)
T=0.048773/6839 (GnomAD)
T=0.052434/28 (MGP)
T=0.064392/17044 (TOPMED)
T=0.100607/25276 (GnomAD_exomes)
T=0.103234/12515 (ExAC)
T=0.115385/6 (Siberian)
T=0.119048/10 (PRJEB36033)
T=0.121918/9594 (PAGE_STUDY)
T=0.163335/818 (1000Genomes)
T=0.164122/86 (SGDP_PRJ)
T=0.168617/317 (HapMap)
T=0.212121/168 (PRJEB37584)
T=0.24918/152 (Vietnamese)
T=0.270755/4538 (TOMMO)
T=0.291667/63 (Qatari)
HGVS:: NC_000005.10:g.33954406T>A, NC_000005.10:g.33954406T>C, NC_000005.10:g.33954406T>G, NC_000005.9:g.33954511T>A, NC_000005.9:g.33954511T>C, NC_000005.9:g.33954511T>G, NG_011691.2:g.35270A>T, NG_011691.2:g.35270A>G, NG_011691.2:g.35270A>C, NM_016180.5:c.987A>T, NM_016180.5:c.987A>G, NM_016180.5:c.987A>C, NM_016180.4:c.987A>T, NM_016180.4:c.987A>G, NM_016180.4:c.987A>C, NM_016180.3:c.987G>A, NM_016180.3:c.987G>T, NM_016180.3:c.987G>C, NM_001012509.4:c.987A>T, NM_001012509.4:c.987A>G, NM_001012509.4:c.987A>C, NM_001012509.3:c.987A>T, NM_001012509.3:c.987A>G, NM_001012509.3:c.987A>C, NM_001012509.2:c.987G>A, NM_001012509.2:c.987G>T, NM_001012509.2:c.987G>C, NM_001297417.4:c.661A>T, NM_001297417.4:c.661A>G, NM_001297417.4:c.661A>C, NM_001297417.3:c.661A>T, NM_001297417.3:c.661A>G, NM_001297417.3:c.661A>C, NM_001297417.2:c.661A>T, NM_001297417.2:c.661A>G, NM_001297417.2:c.661A>C, NM_001297417.1:c.661G>A, NM_001297417.1:c.661G>T, NM_001297417.1:c.661G>C, NT_187551.1:g.155728T>A, NT_187551.1:g.155728T>C, NT_187551.1:g.155728T>G, XM_047417259.1:c.747A>T, XM_047417259.1:c.747A>G, XM_047417259.1:c.747A>C, NP_001284346.2:p.Ser221Cys, NP_001284346.2:p.Ser221Gly, NP_001284346.2:p.Ser221Arg

Select item 178552403.

rs17855240 has merged into rs2287949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:33954406 (GRCh38)
5:33954511 (GRCh37)
Canonical SPDI:: NC_000005.10:33954405:T:A,NC_000005.10:33954405:T:C,NC_000005.10:33954405:T:G
Gene:: SLC45A2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.025365/7530 (ALFA)
T=0./0 (FINRISK)
G=0./0 (KOREAN)
T=0.00501/5 (GoNL)
T=0.007265/28 (ALSPAC)
T=0.007282/27 (TWINSUK)
T=0.008482/38 (Estonian)
T=0.013333/8 (NorthernSweden)
T=0.025/1 (GENOME_DK)
T=0.04075/530 (GoESP)
T=0.048773/6839 (GnomAD)
T=0.052434/28 (MGP)
T=0.064392/17044 (TOPMED)
T=0.100607/25276 (GnomAD_exomes)
T=0.103234/12515 (ExAC)
T=0.115385/6 (Siberian)
T=0.119048/10 (PRJEB36033)
T=0.121918/9594 (PAGE_STUDY)
T=0.163335/818 (1000Genomes)
T=0.164122/86 (SGDP_PRJ)
T=0.168617/317 (HapMap)
T=0.212121/168 (PRJEB37584)
T=0.24918/152 (Vietnamese)
T=0.270755/4538 (TOMMO)
T=0.291667/63 (Qatari)
HGVS:: NC_000005.10:g.33954406T>A, NC_000005.10:g.33954406T>C, NC_000005.10:g.33954406T>G, NC_000005.9:g.33954511T>A, NC_000005.9:g.33954511T>C, NC_000005.9:g.33954511T>G, NG_011691.2:g.35270A>T, NG_011691.2:g.35270A>G, NG_011691.2:g.35270A>C, NM_016180.5:c.987A>T, NM_016180.5:c.987A>G, NM_016180.5:c.987A>C, NM_016180.4:c.987A>T, NM_016180.4:c.987A>G, NM_016180.4:c.987A>C, NM_016180.3:c.987G>A, NM_016180.3:c.987G>T, NM_016180.3:c.987G>C, NM_001012509.4:c.987A>T, NM_001012509.4:c.987A>G, NM_001012509.4:c.987A>C, NM_001012509.3:c.987A>T, NM_001012509.3:c.987A>G, NM_001012509.3:c.987A>C, NM_001012509.2:c.987G>A, NM_001012509.2:c.987G>T, NM_001012509.2:c.987G>C, NM_001297417.4:c.661A>T, NM_001297417.4:c.661A>G, NM_001297417.4:c.661A>C, NM_001297417.3:c.661A>T, NM_001297417.3:c.661A>G, NM_001297417.3:c.661A>C, NM_001297417.2:c.661A>T, NM_001297417.2:c.661A>G, NM_001297417.2:c.661A>C, NM_001297417.1:c.661G>A, NM_001297417.1:c.661G>T, NM_001297417.1:c.661G>C, NT_187551.1:g.155728T>A, NT_187551.1:g.155728T>C, NT_187551.1:g.155728T>G, XM_047417259.1:c.747A>T, XM_047417259.1:c.747A>G, XM_047417259.1:c.747A>C, NP_001284346.2:p.Ser221Cys, NP_001284346.2:p.Ser221Gly, NP_001284346.2:p.Ser221Arg

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 3

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity