rs10012 - SNP

Select item 100121.

rs10012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:38075247 (GRCh38)
2:38302390 (GRCh37)
Canonical SPDI:: NC_000002.12:38075246:G:A,NC_000002.12:38075246:G:C
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.242241/5292 (ALFA)
C=0.001873/1 (MGP)
C=0.110022/1844 (TOMMO)
C=0.147619/31 (Vietnamese)
C=0.158904/464 (KOREAN)
C=0.164661/301 (Korea1K)
C=0.258091/957 (TWINSUK)
C=0.277893/1071 (ALSPAC)
C=0.3/12 (GENOME_DK)
C=0.312492/67344 (GnomAD_exomes)
C=0.342593/74 (Qatari)
C=0.349853/4518 (GoESP)
C=0.350223/1569 (Estonian)
C=0.356258/94298 (TOPMED)
C=0.36/216 (NorthernSweden)
C=0.376952/1888 (1000Genomes)
C=0.377743/29232 (ExAC)
G=0.387417/117 (SGDP_PRJ)
C=0.418033/153 (PharmGKB)
G=0.466667/14 (Siberian)
HGVS:: NC_000002.12:g.38075247G>A, NC_000002.12:g.38075247G>C, NC_000002.11:g.38302390G>A, NC_000002.11:g.38302390G>C, NG_008386.2:g.5855C>T, NG_008386.2:g.5855C>G, NM_000104.4:c.142C>T, NM_000104.4:c.142C>G, NM_000104.3:c.142C>T, NM_000104.3:c.142C>G, NP_000095.2:p.Arg48Trp, NP_000095.2:p.Arg48Gly

Select item 583117082.

rs58311708 has merged into rs10012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:38075247 (GRCh38)
2:38302390 (GRCh37)
Canonical SPDI:: NC_000002.12:38075246:G:A,NC_000002.12:38075246:G:C
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.242241/5292 (ALFA)
C=0.001873/1 (MGP)
C=0.110022/1844 (TOMMO)
C=0.147619/31 (Vietnamese)
C=0.158904/464 (KOREAN)
C=0.164661/301 (Korea1K)
C=0.258091/957 (TWINSUK)
C=0.277893/1071 (ALSPAC)
C=0.3/12 (GENOME_DK)
C=0.312492/67344 (GnomAD_exomes)
C=0.342593/74 (Qatari)
C=0.349853/4518 (GoESP)
C=0.350223/1569 (Estonian)
C=0.356258/94298 (TOPMED)
C=0.36/216 (NorthernSweden)
C=0.376952/1888 (1000Genomes)
C=0.377743/29232 (ExAC)
G=0.387417/117 (SGDP_PRJ)
C=0.418033/153 (PharmGKB)
G=0.466667/14 (Siberian)
HGVS:: NC_000002.12:g.38075247G>A, NC_000002.12:g.38075247G>C, NC_000002.11:g.38302390G>A, NC_000002.11:g.38302390G>C, NG_008386.2:g.5855C>T, NG_008386.2:g.5855C>G, NM_000104.4:c.142C>T, NM_000104.4:c.142C>G, NM_000104.3:c.142C>T, NM_000104.3:c.142C>G, NP_000095.2:p.Arg48Trp, NP_000095.2:p.Arg48Gly

Select item 170219193.

rs17021919 has merged into rs10012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:38075247 (GRCh38)
2:38302390 (GRCh37)
Canonical SPDI:: NC_000002.12:38075246:G:A,NC_000002.12:38075246:G:C
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.242241/5292 (ALFA)
C=0.001873/1 (MGP)
C=0.110022/1844 (TOMMO)
C=0.147619/31 (Vietnamese)
C=0.158904/464 (KOREAN)
C=0.164661/301 (Korea1K)
C=0.258091/957 (TWINSUK)
C=0.277893/1071 (ALSPAC)
C=0.3/12 (GENOME_DK)
C=0.312492/67344 (GnomAD_exomes)
C=0.342593/74 (Qatari)
C=0.349853/4518 (GoESP)
C=0.350223/1569 (Estonian)
C=0.356258/94298 (TOPMED)
C=0.36/216 (NorthernSweden)
C=0.376952/1888 (1000Genomes)
C=0.377743/29232 (ExAC)
G=0.387417/117 (SGDP_PRJ)
C=0.418033/153 (PharmGKB)
G=0.466667/14 (Siberian)
HGVS:: NC_000002.12:g.38075247G>A, NC_000002.12:g.38075247G>C, NC_000002.11:g.38302390G>A, NC_000002.11:g.38302390G>C, NG_008386.2:g.5855C>T, NG_008386.2:g.5855C>G, NM_000104.4:c.142C>T, NM_000104.4:c.142C>G, NM_000104.3:c.142C>T, NM_000104.3:c.142C>G, NP_000095.2:p.Arg48Trp, NP_000095.2:p.Arg48Gly

Select item 31721044.

rs3172104 has merged into rs10012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:38075247 (GRCh38)
2:38302390 (GRCh37)
Canonical SPDI:: NC_000002.12:38075246:G:A,NC_000002.12:38075246:G:C
Gene:: CYP1B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign-likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.242241/5292 (ALFA)
C=0.001873/1 (MGP)
C=0.110022/1844 (TOMMO)
C=0.147619/31 (Vietnamese)
C=0.158904/464 (KOREAN)
C=0.164661/301 (Korea1K)
C=0.258091/957 (TWINSUK)
C=0.277893/1071 (ALSPAC)
C=0.3/12 (GENOME_DK)
C=0.312492/67344 (GnomAD_exomes)
C=0.342593/74 (Qatari)
C=0.349853/4518 (GoESP)
C=0.350223/1569 (Estonian)
C=0.356258/94298 (TOPMED)
C=0.36/216 (NorthernSweden)
C=0.376952/1888 (1000Genomes)
C=0.377743/29232 (ExAC)
G=0.387417/117 (SGDP_PRJ)
C=0.418033/153 (PharmGKB)
G=0.466667/14 (Siberian)
HGVS:: NC_000002.12:g.38075247G>A, NC_000002.12:g.38075247G>C, NC_000002.11:g.38302390G>A, NC_000002.11:g.38302390G>C, NG_008386.2:g.5855C>T, NG_008386.2:g.5855C>G, NM_000104.4:c.142C>T, NM_000104.4:c.142C>G, NM_000104.3:c.142C>T, NM_000104.3:c.142C>G, NP_000095.2:p.Arg48Trp, NP_000095.2:p.Arg48Gly

dbSNP