rs16891982 - SNP

Select item 168919821.

rs16891982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:33951588 (GRCh38)
5:33951693 (GRCh37)
Canonical SPDI:: NC_000005.10:33951587:C:A,NC_000005.10:33951587:C:G
Gene:: SLC45A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign,association,protective
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.134309/5371 (ALFA)
G=0.000106/2 (TOMMO)
G=0.000684/2 (KOREAN)
G=0.010127/8 (PRJEB37584)
C=0.016518/74 (Estonian)
C=0.02004/20 (GoNL)
C=0.028857/107 (TWINSUK)
C=0.03/18 (NorthernSweden)
C=0.034769/134 (ALSPAC)
C=0.05/2 (GENOME_DK)
G=0.064815/14 (Qatari)
C=0.071429/3 (Siberian)
C=0.198502/106 (MGP)
C=0.201149/35 (SGDP_PRJ)
G=0.275453/1379 (1000Genomes)
G=0.292683/24 (PRJEB36033)
C=0.342756/388 (Daghestan)
C=0.35496/89244 (GnomAD_exomes)
C=0.359699/43630 (ExAC)
G=0.365385/114 (HapMap)
C=0.411224/108847 (TOPMED)
HGVS:: NC_000005.10:g.33951588C>A, NC_000005.10:g.33951588C>G, NC_000005.9:g.33951693C>A, NC_000005.9:g.33951693C>G, NG_011691.2:g.38088C>G, NG_011691.2:g.38088C>T, NM_016180.5:c.1122G>T, NM_016180.5:c.1122G>C, NM_016180.4:c.1122C>G, NM_016180.4:c.1122C>T, NM_016180.3:c.1122C>G, NM_016180.3:c.1122C>T, NM_001012509.4:c.1122G>T, NM_001012509.4:c.1122G>C, NM_001012509.3:c.1122C>G, NM_001012509.3:c.1122C>T, NM_001012509.2:c.1122C>G, NM_001012509.2:c.1122C>T, NM_001297417.4:c.*64G>T, NM_001297417.4:c.*64G>C, NM_001297417.3:c.*64G>T, NM_001297417.3:c.*64G>C, NM_001297417.2:c.*64C>G, NM_001297417.2:c.*64C>T, NM_001297417.1:c.*64C>G, NM_001297417.1:c.*64C>T, NT_187551.1:g.152910C>A, NT_187551.1:g.152910C>G, XM_047417259.1:c.882G>T, XM_047417259.1:c.882G>C, NP_057264.4:p.Leu374Phe, NP_057264.4:p.Leu374Phe, NP_001012527.2:p.Leu374Phe, NP_001012527.2:p.Leu374Phe, XP_047273215.1:p.Leu294Phe, XP_047273215.1:p.Leu294Phe

PubMed LitVar

Select item 528014532.

rs52801453 has merged into rs16891982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:33951588 (GRCh38)
5:33951693 (GRCh37)
Canonical SPDI:: NC_000005.10:33951587:C:A,NC_000005.10:33951587:C:G
Gene:: SLC45A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign,association,protective
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.134309/5371 (ALFA)
G=0.000106/2 (TOMMO)
G=0.000684/2 (KOREAN)
G=0.010127/8 (PRJEB37584)
C=0.016518/74 (Estonian)
C=0.02004/20 (GoNL)
C=0.028857/107 (TWINSUK)
C=0.03/18 (NorthernSweden)
C=0.034769/134 (ALSPAC)
C=0.05/2 (GENOME_DK)
G=0.064815/14 (Qatari)
C=0.071429/3 (Siberian)
C=0.198502/106 (MGP)
C=0.201149/35 (SGDP_PRJ)
G=0.275453/1379 (1000Genomes)
G=0.292683/24 (PRJEB36033)
C=0.342756/388 (Daghestan)
C=0.35496/89244 (GnomAD_exomes)
C=0.359699/43630 (ExAC)
G=0.365385/114 (HapMap)
C=0.411224/108847 (TOPMED)
HGVS:: NC_000005.10:g.33951588C>A, NC_000005.10:g.33951588C>G, NC_000005.9:g.33951693C>A, NC_000005.9:g.33951693C>G, NG_011691.2:g.38088C>G, NG_011691.2:g.38088C>T, NM_016180.5:c.1122G>T, NM_016180.5:c.1122G>C, NM_016180.4:c.1122C>G, NM_016180.4:c.1122C>T, NM_016180.3:c.1122C>G, NM_016180.3:c.1122C>T, NM_001012509.4:c.1122G>T, NM_001012509.4:c.1122G>C, NM_001012509.3:c.1122C>G, NM_001012509.3:c.1122C>T, NM_001012509.2:c.1122C>G, NM_001012509.2:c.1122C>T, NM_001297417.4:c.*64G>T, NM_001297417.4:c.*64G>C, NM_001297417.3:c.*64G>T, NM_001297417.3:c.*64G>C, NM_001297417.2:c.*64C>G, NM_001297417.2:c.*64C>T, NM_001297417.1:c.*64C>G, NM_001297417.1:c.*64C>T, NT_187551.1:g.152910C>A, NT_187551.1:g.152910C>G, XM_047417259.1:c.882G>T, XM_047417259.1:c.882G>C, NP_057264.4:p.Leu374Phe, NP_057264.4:p.Leu374Phe, NP_001012527.2:p.Leu374Phe, NP_001012527.2:p.Leu374Phe, XP_047273215.1:p.Leu294Phe, XP_047273215.1:p.Leu294Phe

Select item 178559023.

rs17855902 has merged into rs16891982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:33951588 (GRCh38)
5:33951693 (GRCh37)
Canonical SPDI:: NC_000005.10:33951587:C:A,NC_000005.10:33951587:C:G
Gene:: SLC45A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign,association,protective
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.134309/5371 (ALFA)
G=0.000106/2 (TOMMO)
G=0.000684/2 (KOREAN)
G=0.010127/8 (PRJEB37584)
C=0.016518/74 (Estonian)
C=0.02004/20 (GoNL)
C=0.028857/107 (TWINSUK)
C=0.03/18 (NorthernSweden)
C=0.034769/134 (ALSPAC)
C=0.05/2 (GENOME_DK)
G=0.064815/14 (Qatari)
C=0.071429/3 (Siberian)
C=0.198502/106 (MGP)
C=0.201149/35 (SGDP_PRJ)
G=0.275453/1379 (1000Genomes)
G=0.292683/24 (PRJEB36033)
C=0.342756/388 (Daghestan)
C=0.35496/89244 (GnomAD_exomes)
C=0.359699/43630 (ExAC)
G=0.365385/114 (HapMap)
C=0.411224/108847 (TOPMED)
HGVS:: NC_000005.10:g.33951588C>A, NC_000005.10:g.33951588C>G, NC_000005.9:g.33951693C>A, NC_000005.9:g.33951693C>G, NG_011691.2:g.38088C>G, NG_011691.2:g.38088C>T, NM_016180.5:c.1122G>T, NM_016180.5:c.1122G>C, NM_016180.4:c.1122C>G, NM_016180.4:c.1122C>T, NM_016180.3:c.1122C>G, NM_016180.3:c.1122C>T, NM_001012509.4:c.1122G>T, NM_001012509.4:c.1122G>C, NM_001012509.3:c.1122C>G, NM_001012509.3:c.1122C>T, NM_001012509.2:c.1122C>G, NM_001012509.2:c.1122C>T, NM_001297417.4:c.*64G>T, NM_001297417.4:c.*64G>C, NM_001297417.3:c.*64G>T, NM_001297417.3:c.*64G>C, NM_001297417.2:c.*64C>G, NM_001297417.2:c.*64C>T, NM_001297417.1:c.*64C>G, NM_001297417.1:c.*64C>T, NT_187551.1:g.152910C>A, NT_187551.1:g.152910C>G, XM_047417259.1:c.882G>T, XM_047417259.1:c.882G>C, NP_057264.4:p.Leu374Phe, NP_057264.4:p.Leu374Phe, NP_001012527.2:p.Leu374Phe, NP_001012527.2:p.Leu374Phe, XP_047273215.1:p.Leu294Phe, XP_047273215.1:p.Leu294Phe

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