rs26722 - SNP

Select item 267221.

rs26722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:33963765 (GRCh38)
5:33963870 (GRCh37)
Canonical SPDI:: NC_000005.10:33963764:C:T
Gene:: SLC45A2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign,likely-benign,association
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.043415/15067 (ALFA)
T=0.00625/28 (Estonian)
T=0.008333/5 (NorthernSweden)
T=0.01002/10 (GoNL)
T=0.011866/44 (TWINSUK)
T=0.013158/4 (FINRISK)
T=0.017644/68 (ALSPAC)
T=0.025/1 (GENOME_DK)
T=0.056213/7880 (GnomAD)
T=0.084227/22294 (TOPMED)
T=0.086142/46 (MGP)
T=0.106983/12943 (ExAC)
T=0.117899/29634 (GnomAD_exomes)
T=0.149364/282 (HapMap)
T=0.159755/12573 (PAGE_STUDY)
T=0.173798/870 (1000Genomes)
T=0.240741/52 (Qatari)
T=0.275862/16 (PRJEB36033)
T=0.317928/5328 (TOMMO)
T=0.347222/275 (PRJEB37584)
T=0.347541/212 (Vietnamese)
T=0.360751/1057 (KOREAN)
T=0.383188/702 (Korea1K)
C=0.435644/88 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000005.10:g.33963765C>T, NC_000005.9:g.33963870C>T, NG_011691.2:g.25911G>A, NM_016180.5:c.814G>A, NM_016180.4:c.814G>A, NM_016180.3:c.814G>A, NM_001012509.4:c.814G>A, NM_001012509.3:c.814G>A, NM_001012509.2:c.814G>A, XM_047417260.1:c.814G>A, NP_057264.4:p.Glu272Lys, NP_001012527.2:p.Glu272Lys, XP_047273216.1:p.Glu272Lys

Select item 1180117072.

rs118011707 has merged into rs26722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:33963765 (GRCh38)
5:33963870 (GRCh37)
Canonical SPDI:: NC_000005.10:33963764:C:T
Gene:: SLC45A2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign,likely-benign,association
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.043415/15067 (ALFA)
T=0.00625/28 (Estonian)
T=0.008333/5 (NorthernSweden)
T=0.01002/10 (GoNL)
T=0.011866/44 (TWINSUK)
T=0.013158/4 (FINRISK)
T=0.017644/68 (ALSPAC)
T=0.025/1 (GENOME_DK)
T=0.056213/7880 (GnomAD)
T=0.084227/22294 (TOPMED)
T=0.086142/46 (MGP)
T=0.106983/12943 (ExAC)
T=0.117899/29634 (GnomAD_exomes)
T=0.149364/282 (HapMap)
T=0.159755/12573 (PAGE_STUDY)
T=0.173798/870 (1000Genomes)
T=0.240741/52 (Qatari)
T=0.275862/16 (PRJEB36033)
T=0.317928/5328 (TOMMO)
T=0.347222/275 (PRJEB37584)
T=0.347541/212 (Vietnamese)
T=0.360751/1057 (KOREAN)
T=0.383188/702 (Korea1K)
C=0.435644/88 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000005.10:g.33963765C>T, NC_000005.9:g.33963870C>T, NG_011691.2:g.25911G>A, NM_016180.5:c.814G>A, NM_016180.4:c.814G>A, NM_016180.3:c.814G>A, NM_001012509.4:c.814G>A, NM_001012509.3:c.814G>A, NM_001012509.2:c.814G>A, XM_047417260.1:c.814G>A, NP_057264.4:p.Glu272Lys, NP_001012527.2:p.Glu272Lys, XP_047273216.1:p.Glu272Lys

Select item 602850503.

rs60285050 has merged into rs26722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:33963765 (GRCh38)
5:33963870 (GRCh37)
Canonical SPDI:: NC_000005.10:33963764:C:T
Gene:: SLC45A2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign,likely-benign,association
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.043415/15067 (ALFA)
T=0.00625/28 (Estonian)
T=0.008333/5 (NorthernSweden)
T=0.01002/10 (GoNL)
T=0.011866/44 (TWINSUK)
T=0.013158/4 (FINRISK)
T=0.017644/68 (ALSPAC)
T=0.025/1 (GENOME_DK)
T=0.056213/7880 (GnomAD)
T=0.084227/22294 (TOPMED)
T=0.086142/46 (MGP)
T=0.106983/12943 (ExAC)
T=0.117899/29634 (GnomAD_exomes)
T=0.149364/282 (HapMap)
T=0.159755/12573 (PAGE_STUDY)
T=0.173798/870 (1000Genomes)
T=0.240741/52 (Qatari)
T=0.275862/16 (PRJEB36033)
T=0.317928/5328 (TOMMO)
T=0.347222/275 (PRJEB37584)
T=0.347541/212 (Vietnamese)
T=0.360751/1057 (KOREAN)
T=0.383188/702 (Korea1K)
C=0.435644/88 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000005.10:g.33963765C>T, NC_000005.9:g.33963870C>T, NG_011691.2:g.25911G>A, NM_016180.5:c.814G>A, NM_016180.4:c.814G>A, NM_016180.3:c.814G>A, NM_001012509.4:c.814G>A, NM_001012509.3:c.814G>A, NM_001012509.2:c.814G>A, XM_047417260.1:c.814G>A, NP_057264.4:p.Glu272Lys, NP_001012527.2:p.Glu272Lys, XP_047273216.1:p.Glu272Lys

Select item 528323004.

rs52832300 has merged into rs26722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:33963765 (GRCh38)
5:33963870 (GRCh37)
Canonical SPDI:: NC_000005.10:33963764:C:T
Gene:: SLC45A2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign,likely-benign,association
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.043415/15067 (ALFA)
T=0.00625/28 (Estonian)
T=0.008333/5 (NorthernSweden)
T=0.01002/10 (GoNL)
T=0.011866/44 (TWINSUK)
T=0.013158/4 (FINRISK)
T=0.017644/68 (ALSPAC)
T=0.025/1 (GENOME_DK)
T=0.056213/7880 (GnomAD)
T=0.084227/22294 (TOPMED)
T=0.086142/46 (MGP)
T=0.106983/12943 (ExAC)
T=0.117899/29634 (GnomAD_exomes)
T=0.149364/282 (HapMap)
T=0.159755/12573 (PAGE_STUDY)
T=0.173798/870 (1000Genomes)
T=0.240741/52 (Qatari)
T=0.275862/16 (PRJEB36033)
T=0.317928/5328 (TOMMO)
T=0.347222/275 (PRJEB37584)
T=0.347541/212 (Vietnamese)
T=0.360751/1057 (KOREAN)
T=0.383188/702 (Korea1K)
C=0.435644/88 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000005.10:g.33963765C>T, NC_000005.9:g.33963870C>T, NG_011691.2:g.25911G>A, NM_016180.5:c.814G>A, NM_016180.4:c.814G>A, NM_016180.3:c.814G>A, NM_001012509.4:c.814G>A, NM_001012509.3:c.814G>A, NM_001012509.2:c.814G>A, XM_047417260.1:c.814G>A, NP_057264.4:p.Glu272Lys, NP_001012527.2:p.Glu272Lys, XP_047273216.1:p.Glu272Lys

Select item 168920265.

rs16892026 has merged into rs26722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:33963765 (GRCh38)
5:33963870 (GRCh37)
Canonical SPDI:: NC_000005.10:33963764:C:T
Gene:: SLC45A2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: benign,likely-benign,association
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.043415/15067 (ALFA)
T=0.00625/28 (Estonian)
T=0.008333/5 (NorthernSweden)
T=0.01002/10 (GoNL)
T=0.011866/44 (TWINSUK)
T=0.013158/4 (FINRISK)
T=0.017644/68 (ALSPAC)
T=0.025/1 (GENOME_DK)
T=0.056213/7880 (GnomAD)
T=0.084227/22294 (TOPMED)
T=0.086142/46 (MGP)
T=0.106983/12943 (ExAC)
T=0.117899/29634 (GnomAD_exomes)
T=0.149364/282 (HapMap)
T=0.159755/12573 (PAGE_STUDY)
T=0.173798/870 (1000Genomes)
T=0.240741/52 (Qatari)
T=0.275862/16 (PRJEB36033)
T=0.317928/5328 (TOMMO)
T=0.347222/275 (PRJEB37584)
T=0.347541/212 (Vietnamese)
T=0.360751/1057 (KOREAN)
T=0.383188/702 (Korea1K)
C=0.435644/88 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000005.10:g.33963765C>T, NC_000005.9:g.33963870C>T, NG_011691.2:g.25911G>A, NM_016180.5:c.814G>A, NM_016180.4:c.814G>A, NM_016180.3:c.814G>A, NM_001012509.4:c.814G>A, NM_001012509.3:c.814G>A, NM_001012509.2:c.814G>A, XM_047417260.1:c.814G>A, NP_057264.4:p.Glu272Lys, NP_001012527.2:p.Glu272Lys, XP_047273216.1:p.Glu272Lys

dbSNP