rs235920 - SNP

Select item 2359201.

rs235920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:171652835 (GRCh38)
1:171621975 (GRCh37)
Canonical SPDI:: NC_000001.11:171652834:A:C,NC_000001.11:171652834:A:G,NC_000001.11:171652834:A:T
Gene:: MYOC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.312267/64116 (ALFA)
T=0./0 (KOREAN)
G=0.234155/266 (Daghestan)
G=0.236111/51 (Qatari)
G=0.3/12 (PRJEB36033)
G=0.30903/1191 (ALSPAC)
G=0.312625/312 (GoNL)
G=0.313928/64379 (GENOGRAPHIC)
G=0.314063/1407 (Estonian)
G=0.314186/1165 (TWINSUK)
G=0.333013/694 (HGDP_Stanford)
A=0.346227/5803 (TOMMO)
G=0.353774/75 (Vietnamese)
A=0.365942/101 (SGDP_PRJ)
G=0.372111/1864 (1000Genomes)
G=0.375/15 (GENOME_DK)
G=0.376268/52600 (GnomAD)
G=0.376675/99702 (TOPMED)
G=0.386667/232 (NorthernSweden)
G=0.424419/803 (HapMap)
A=0.4375/21 (Siberian)
A=0.469978/861 (Korea1K)
HGVS:: NC_000001.11:g.171652835A>C, NC_000001.11:g.171652835A>G, NC_000001.11:g.171652835A>T, NC_000001.10:g.171621975A>C, NC_000001.10:g.171621975A>G, NC_000001.10:g.171621975A>T, NG_008859.1:g.4799T>G, NG_008859.1:g.4799T>C, NG_008859.1:g.4799T>A

Select item 615850272.

rs61585027 has merged into rs235920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:171652835 (GRCh38)
1:171621975 (GRCh37)
Canonical SPDI:: NC_000001.11:171652834:A:C,NC_000001.11:171652834:A:G,NC_000001.11:171652834:A:T
Gene:: MYOC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.312267/64116 (ALFA)
T=0./0 (KOREAN)
G=0.234155/266 (Daghestan)
G=0.236111/51 (Qatari)
G=0.3/12 (PRJEB36033)
G=0.30903/1191 (ALSPAC)
G=0.312625/312 (GoNL)
G=0.313928/64379 (GENOGRAPHIC)
G=0.314063/1407 (Estonian)
G=0.314186/1165 (TWINSUK)
G=0.333013/694 (HGDP_Stanford)
A=0.346227/5803 (TOMMO)
G=0.353774/75 (Vietnamese)
A=0.365942/101 (SGDP_PRJ)
G=0.372111/1864 (1000Genomes)
G=0.375/15 (GENOME_DK)
G=0.376268/52600 (GnomAD)
G=0.376675/99702 (TOPMED)
G=0.386667/232 (NorthernSweden)
G=0.424419/803 (HapMap)
A=0.4375/21 (Siberian)
A=0.469978/861 (Korea1K)
HGVS:: NC_000001.11:g.171652835A>C, NC_000001.11:g.171652835A>G, NC_000001.11:g.171652835A>T, NC_000001.10:g.171621975A>C, NC_000001.10:g.171621975A>G, NC_000001.10:g.171621975A>T, NG_008859.1:g.4799T>G, NG_008859.1:g.4799T>C, NG_008859.1:g.4799T>A

Select item 5426203.

rs542620 has merged into rs235920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:171652835 (GRCh38)
1:171621975 (GRCh37)
Canonical SPDI:: NC_000001.11:171652834:A:C,NC_000001.11:171652834:A:G,NC_000001.11:171652834:A:T
Gene:: MYOC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.312267/64116 (ALFA)
T=0./0 (KOREAN)
G=0.234155/266 (Daghestan)
G=0.236111/51 (Qatari)
G=0.3/12 (PRJEB36033)
G=0.30903/1191 (ALSPAC)
G=0.312625/312 (GoNL)
G=0.313928/64379 (GENOGRAPHIC)
G=0.314063/1407 (Estonian)
G=0.314186/1165 (TWINSUK)
G=0.333013/694 (HGDP_Stanford)
A=0.346227/5803 (TOMMO)
G=0.353774/75 (Vietnamese)
A=0.365942/101 (SGDP_PRJ)
G=0.372111/1864 (1000Genomes)
G=0.375/15 (GENOME_DK)
G=0.376268/52600 (GnomAD)
G=0.376675/99702 (TOPMED)
G=0.386667/232 (NorthernSweden)
G=0.424419/803 (HapMap)
A=0.4375/21 (Siberian)
A=0.469978/861 (Korea1K)
HGVS:: NC_000001.11:g.171652835A>C, NC_000001.11:g.171652835A>G, NC_000001.11:g.171652835A>T, NC_000001.10:g.171621975A>C, NC_000001.10:g.171621975A>G, NC_000001.10:g.171621975A>T, NG_008859.1:g.4799T>G, NG_008859.1:g.4799T>C, NG_008859.1:g.4799T>A

dbSNP