rs434102 - SNP

Select item 4341021.

rs434102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:42698323 (GRCh38)
6:42666061 (GRCh37)
Canonical SPDI:: NC_000006.12:42698322:T:A,NC_000006.12:42698322:T:C,NC_000006.12:42698322:T:G
Gene:: PRPH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.210586/60114 (ALFA)
G=0./0 (KOREAN)
T=0.14918/91 (Vietnamese)
T=0.153409/81 (SGDP_PRJ)
T=0.154464/692 (Estonian)
T=0.158681/2659 (TOMMO)
T=0.176667/106 (NorthernSweden)
T=0.180131/330 (Korea1K)
T=0.184211/56 (FINRISK)
T=0.199074/43 (Qatari)
T=0.2/8 (GENOME_DK)
T=0.200401/200 (GoNL)
T=0.219253/845 (ALSPAC)
T=0.221025/26679 (ExAC)
T=0.223031/827 (TWINSUK)
T=0.223205/2903 (GoESP)
T=0.223931/56152 (GnomAD_exomes)
T=0.225876/31633 (GnomAD)
T=0.231675/61322 (TOPMED)
T=0.240741/13 (Siberian)
T=0.243915/461 (HapMap)
T=0.245472/1229 (1000Genomes)
T=0.249384/19626 (PAGE_STUDY)
C=0.455056/243 (MGP)
HGVS:: NC_000006.12:g.42698323T>A, NC_000006.12:g.42698323T>C, NC_000006.12:g.42698323T>G, NC_000006.11:g.42666061T>A, NC_000006.11:g.42666061T>C, NC_000006.11:g.42666061T>G, NG_009176.2:g.29298A>T, NG_009176.2:g.29298A>G, NG_009176.2:g.29298A>C, NM_000322.5:c.1013A>T, NM_000322.5:c.1013A>G, NM_000322.5:c.1013A>C, NM_000322.4:c.1013A>T, NM_000322.4:c.1013A>G, NM_000322.4:c.1013A>C, NP_000313.2:p.Asp338Val, NP_000313.2:p.Asp338Gly, NP_000313.2:p.Asp338Ala

PubMed LitVar

Select item 1177232412.

rs117723241 has merged into rs434102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:42698323 (GRCh38)
6:42666061 (GRCh37)
Canonical SPDI:: NC_000006.12:42698322:T:A,NC_000006.12:42698322:T:C,NC_000006.12:42698322:T:G
Gene:: PRPH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.210586/60114 (ALFA)
G=0./0 (KOREAN)
T=0.14918/91 (Vietnamese)
T=0.153409/81 (SGDP_PRJ)
T=0.154464/692 (Estonian)
T=0.158681/2659 (TOMMO)
T=0.176667/106 (NorthernSweden)
T=0.180131/330 (Korea1K)
T=0.184211/56 (FINRISK)
T=0.199074/43 (Qatari)
T=0.2/8 (GENOME_DK)
T=0.200401/200 (GoNL)
T=0.219253/845 (ALSPAC)
T=0.221025/26679 (ExAC)
T=0.223031/827 (TWINSUK)
T=0.223205/2903 (GoESP)
T=0.223931/56152 (GnomAD_exomes)
T=0.225876/31633 (GnomAD)
T=0.231675/61322 (TOPMED)
T=0.240741/13 (Siberian)
T=0.243915/461 (HapMap)
T=0.245472/1229 (1000Genomes)
T=0.249384/19626 (PAGE_STUDY)
C=0.455056/243 (MGP)
HGVS:: NC_000006.12:g.42698323T>A, NC_000006.12:g.42698323T>C, NC_000006.12:g.42698323T>G, NC_000006.11:g.42666061T>A, NC_000006.11:g.42666061T>C, NC_000006.11:g.42666061T>G, NG_009176.2:g.29298A>T, NG_009176.2:g.29298A>G, NG_009176.2:g.29298A>C, NM_000322.5:c.1013A>T, NM_000322.5:c.1013A>G, NM_000322.5:c.1013A>C, NM_000322.4:c.1013A>T, NM_000322.4:c.1013A>G, NM_000322.4:c.1013A>C, NP_000313.2:p.Asp338Val, NP_000313.2:p.Asp338Gly, NP_000313.2:p.Asp338Ala

Select item 18010543.

rs1801054 has merged into rs434102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:42698323 (GRCh38)
6:42666061 (GRCh37)
Canonical SPDI:: NC_000006.12:42698322:T:A,NC_000006.12:42698322:T:C,NC_000006.12:42698322:T:G
Gene:: PRPH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.210586/60114 (ALFA)
G=0./0 (KOREAN)
T=0.14918/91 (Vietnamese)
T=0.153409/81 (SGDP_PRJ)
T=0.154464/692 (Estonian)
T=0.158681/2659 (TOMMO)
T=0.176667/106 (NorthernSweden)
T=0.180131/330 (Korea1K)
T=0.184211/56 (FINRISK)
T=0.199074/43 (Qatari)
T=0.2/8 (GENOME_DK)
T=0.200401/200 (GoNL)
T=0.219253/845 (ALSPAC)
T=0.221025/26679 (ExAC)
T=0.223031/827 (TWINSUK)
T=0.223205/2903 (GoESP)
T=0.223931/56152 (GnomAD_exomes)
T=0.225876/31633 (GnomAD)
T=0.231675/61322 (TOPMED)
T=0.240741/13 (Siberian)
T=0.243915/461 (HapMap)
T=0.245472/1229 (1000Genomes)
T=0.249384/19626 (PAGE_STUDY)
C=0.455056/243 (MGP)
HGVS:: NC_000006.12:g.42698323T>A, NC_000006.12:g.42698323T>C, NC_000006.12:g.42698323T>G, NC_000006.11:g.42666061T>A, NC_000006.11:g.42666061T>C, NC_000006.11:g.42666061T>G, NG_009176.2:g.29298A>T, NG_009176.2:g.29298A>G, NG_009176.2:g.29298A>C, NM_000322.5:c.1013A>T, NM_000322.5:c.1013A>G, NM_000322.5:c.1013A>C, NM_000322.4:c.1013A>T, NM_000322.4:c.1013A>G, NM_000322.4:c.1013A>C, NP_000313.2:p.Asp338Val, NP_000313.2:p.Asp338Gly, NP_000313.2:p.Asp338Ala

Select item 6529274.

rs652927 has merged into rs434102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:42698323 (GRCh38)
6:42666061 (GRCh37)
Canonical SPDI:: NC_000006.12:42698322:T:A,NC_000006.12:42698322:T:C,NC_000006.12:42698322:T:G
Gene:: PRPH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.210586/60114 (ALFA)
G=0./0 (KOREAN)
T=0.14918/91 (Vietnamese)
T=0.153409/81 (SGDP_PRJ)
T=0.154464/692 (Estonian)
T=0.158681/2659 (TOMMO)
T=0.176667/106 (NorthernSweden)
T=0.180131/330 (Korea1K)
T=0.184211/56 (FINRISK)
T=0.199074/43 (Qatari)
T=0.2/8 (GENOME_DK)
T=0.200401/200 (GoNL)
T=0.219253/845 (ALSPAC)
T=0.221025/26679 (ExAC)
T=0.223031/827 (TWINSUK)
T=0.223205/2903 (GoESP)
T=0.223931/56152 (GnomAD_exomes)
T=0.225876/31633 (GnomAD)
T=0.231675/61322 (TOPMED)
T=0.240741/13 (Siberian)
T=0.243915/461 (HapMap)
T=0.245472/1229 (1000Genomes)
T=0.249384/19626 (PAGE_STUDY)
C=0.455056/243 (MGP)
HGVS:: NC_000006.12:g.42698323T>A, NC_000006.12:g.42698323T>C, NC_000006.12:g.42698323T>G, NC_000006.11:g.42666061T>A, NC_000006.11:g.42666061T>C, NC_000006.11:g.42666061T>G, NG_009176.2:g.29298A>T, NG_009176.2:g.29298A>G, NG_009176.2:g.29298A>C, NM_000322.5:c.1013A>T, NM_000322.5:c.1013A>G, NM_000322.5:c.1013A>C, NM_000322.4:c.1013A>T, NM_000322.4:c.1013A>G, NM_000322.4:c.1013A>C, NP_000313.2:p.Asp338Val, NP_000313.2:p.Asp338Gly, NP_000313.2:p.Asp338Ala

dbSNP

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