rs390659 - SNP

Select item 3906591.

rs390659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:42698426 (GRCh38)
6:42666164 (GRCh37)
Canonical SPDI:: NC_000006.12:42698425:G:A,NC_000006.12:42698425:G:C,NC_000006.12:42698425:G:T
Gene:: PRPH2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant,genic_downstream_transcript_variant
Clinical significance:: likely-pathogenic,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.214558/22199 (ALFA)
G=0.135762/41 (HapMap)
G=0.14658/90 (Vietnamese)
G=0.153409/81 (SGDP_PRJ)
G=0.153795/689 (Estonian)
G=0.15529/455 (KOREAN)
G=0.15999/2681 (TOMMO)
G=0.167513/132 (PRJEB37584)
G=0.176667/106 (NorthernSweden)
G=0.182314/334 (Korea1K)
G=0.18543/56 (FINRISK)
G=0.199074/43 (Qatari)
G=0.2/8 (GENOME_DK)
G=0.201403/201 (GoNL)
G=0.218993/844 (ALSPAC)
G=0.222601/27022 (ExAC)
G=0.223205/2903 (GoESP)
G=0.223301/828 (TWINSUK)
G=0.225119/56604 (GnomAD_exomes)
G=0.231901/61382 (TOPMED)
G=0.237828/127 (MGP)
G=0.240741/13 (Siberian)
G=0.245472/1229 (1000Genomes)
G=0.24986/19663 (PAGE_STUDY)
HGVS:: NC_000006.12:g.42698426G>A, NC_000006.12:g.42698426G>C, NC_000006.12:g.42698426G>T, NC_000006.11:g.42666164G>A, NC_000006.11:g.42666164G>C, NC_000006.11:g.42666164G>T, NG_009176.2:g.29195C>T, NG_009176.2:g.29195C>G, NG_009176.2:g.29195C>A, NM_000322.5:c.910C>T, NM_000322.5:c.910C>G, NM_000322.5:c.910C>A, NM_000322.4:c.910C>T, NM_000322.4:c.910C>G, NM_000322.4:c.910C>A, NP_000313.2:p.Gln304Ter, NP_000313.2:p.Gln304Glu, NP_000313.2:p.Gln304Lys

PubMed LitVar

Select item 609685182.

rs60968518 has merged into rs390659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:42698426 (GRCh38)
6:42666164 (GRCh37)
Canonical SPDI:: NC_000006.12:42698425:G:A,NC_000006.12:42698425:G:C,NC_000006.12:42698425:G:T
Gene:: PRPH2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant,genic_downstream_transcript_variant
Clinical significance:: likely-pathogenic,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.214558/22199 (ALFA)
G=0.135762/41 (HapMap)
G=0.14658/90 (Vietnamese)
G=0.153409/81 (SGDP_PRJ)
G=0.153795/689 (Estonian)
G=0.15529/455 (KOREAN)
G=0.15999/2681 (TOMMO)
G=0.167513/132 (PRJEB37584)
G=0.176667/106 (NorthernSweden)
G=0.182314/334 (Korea1K)
G=0.18543/56 (FINRISK)
G=0.199074/43 (Qatari)
G=0.2/8 (GENOME_DK)
G=0.201403/201 (GoNL)
G=0.218993/844 (ALSPAC)
G=0.222601/27022 (ExAC)
G=0.223205/2903 (GoESP)
G=0.223301/828 (TWINSUK)
G=0.225119/56604 (GnomAD_exomes)
G=0.231901/61382 (TOPMED)
G=0.237828/127 (MGP)
G=0.240741/13 (Siberian)
G=0.245472/1229 (1000Genomes)
G=0.24986/19663 (PAGE_STUDY)
HGVS:: NC_000006.12:g.42698426G>A, NC_000006.12:g.42698426G>C, NC_000006.12:g.42698426G>T, NC_000006.11:g.42666164G>A, NC_000006.11:g.42666164G>C, NC_000006.11:g.42666164G>T, NG_009176.2:g.29195C>T, NG_009176.2:g.29195C>G, NG_009176.2:g.29195C>A, NM_000322.5:c.910C>T, NM_000322.5:c.910C>G, NM_000322.5:c.910C>A, NM_000322.4:c.910C>T, NM_000322.4:c.910C>G, NM_000322.4:c.910C>A, NP_000313.2:p.Gln304Ter, NP_000313.2:p.Gln304Glu, NP_000313.2:p.Gln304Lys

Select item 528140763.

rs52814076 has merged into rs390659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:42698426 (GRCh38)
6:42666164 (GRCh37)
Canonical SPDI:: NC_000006.12:42698425:G:A,NC_000006.12:42698425:G:C,NC_000006.12:42698425:G:T
Gene:: PRPH2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant,genic_downstream_transcript_variant
Clinical significance:: likely-pathogenic,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.214558/22199 (ALFA)
G=0.135762/41 (HapMap)
G=0.14658/90 (Vietnamese)
G=0.153409/81 (SGDP_PRJ)
G=0.153795/689 (Estonian)
G=0.15529/455 (KOREAN)
G=0.15999/2681 (TOMMO)
G=0.167513/132 (PRJEB37584)
G=0.176667/106 (NorthernSweden)
G=0.182314/334 (Korea1K)
G=0.18543/56 (FINRISK)
G=0.199074/43 (Qatari)
G=0.2/8 (GENOME_DK)
G=0.201403/201 (GoNL)
G=0.218993/844 (ALSPAC)
G=0.222601/27022 (ExAC)
G=0.223205/2903 (GoESP)
G=0.223301/828 (TWINSUK)
G=0.225119/56604 (GnomAD_exomes)
G=0.231901/61382 (TOPMED)
G=0.237828/127 (MGP)
G=0.240741/13 (Siberian)
G=0.245472/1229 (1000Genomes)
G=0.24986/19663 (PAGE_STUDY)
HGVS:: NC_000006.12:g.42698426G>A, NC_000006.12:g.42698426G>C, NC_000006.12:g.42698426G>T, NC_000006.11:g.42666164G>A, NC_000006.11:g.42666164G>C, NC_000006.11:g.42666164G>T, NG_009176.2:g.29195C>T, NG_009176.2:g.29195C>G, NG_009176.2:g.29195C>A, NM_000322.5:c.910C>T, NM_000322.5:c.910C>G, NM_000322.5:c.910C>A, NM_000322.4:c.910C>T, NM_000322.4:c.910C>G, NM_000322.4:c.910C>A, NP_000313.2:p.Gln304Ter, NP_000313.2:p.Gln304Glu, NP_000313.2:p.Gln304Lys

Select item 6534304.

rs653430 has merged into rs390659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:42698426 (GRCh38)
6:42666164 (GRCh37)
Canonical SPDI:: NC_000006.12:42698425:G:A,NC_000006.12:42698425:G:C,NC_000006.12:42698425:G:T
Gene:: PRPH2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant,genic_downstream_transcript_variant
Clinical significance:: likely-pathogenic,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.214558/22199 (ALFA)
G=0.135762/41 (HapMap)
G=0.14658/90 (Vietnamese)
G=0.153409/81 (SGDP_PRJ)
G=0.153795/689 (Estonian)
G=0.15529/455 (KOREAN)
G=0.15999/2681 (TOMMO)
G=0.167513/132 (PRJEB37584)
G=0.176667/106 (NorthernSweden)
G=0.182314/334 (Korea1K)
G=0.18543/56 (FINRISK)
G=0.199074/43 (Qatari)
G=0.2/8 (GENOME_DK)
G=0.201403/201 (GoNL)
G=0.218993/844 (ALSPAC)
G=0.222601/27022 (ExAC)
G=0.223205/2903 (GoESP)
G=0.223301/828 (TWINSUK)
G=0.225119/56604 (GnomAD_exomes)
G=0.231901/61382 (TOPMED)
G=0.237828/127 (MGP)
G=0.240741/13 (Siberian)
G=0.245472/1229 (1000Genomes)
G=0.24986/19663 (PAGE_STUDY)
HGVS:: NC_000006.12:g.42698426G>A, NC_000006.12:g.42698426G>C, NC_000006.12:g.42698426G>T, NC_000006.11:g.42666164G>A, NC_000006.11:g.42666164G>C, NC_000006.11:g.42666164G>T, NG_009176.2:g.29195C>T, NG_009176.2:g.29195C>G, NG_009176.2:g.29195C>A, NM_000322.5:c.910C>T, NM_000322.5:c.910C>G, NM_000322.5:c.910C>A, NM_000322.4:c.910C>T, NM_000322.4:c.910C>G, NM_000322.4:c.910C>A, NP_000313.2:p.Gln304Ter, NP_000313.2:p.Gln304Glu, NP_000313.2:p.Gln304Lys

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 4

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity