rs12320366 - SNP

Format

Sort by

Choose Destination

Search results

Select item 123203661.

rs12320366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:91056207 (GRCh38)
12:91449984 (GRCh37)
Canonical SPDI:: NC_000012.12:91056206:C:A,NC_000012.12:91056206:C:T
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.130481/8975 (ALFA)
T=0.08/48 (NorthernSweden)
T=0.083062/51 (Vietnamese)
T=0.08331/1396 (TOMMO)
T=0.085383/250 (KOREAN)
T=0.095395/29 (FINRISK)
T=0.09607/176 (Korea1K)
T=0.12082/448 (TWINSUK)
T=0.12273/473 (ALSPAC)
T=0.136607/612 (Estonian)
T=0.140281/140 (GoNL)
T=0.144195/77 (MGP)
T=0.2/8 (GENOME_DK)
T=0.203704/44 (Qatari)
T=0.231106/1157 (1000Genomes)
T=0.238304/33109 (GnomAD)
T=0.246235/65176 (TOPMED)
T=0.252538/3284 (GoESP)
T=0.283598/536 (HapMap)
A=0.298129/23461 (PAGE_STUDY)
C=0.39726/58 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000012.12:g.91056207C>A, NC_000012.12:g.91056207C>T, NC_000012.11:g.91449984C>A, NC_000012.11:g.91449984C>T, NG_021223.1:g.7148G>T, NG_021223.1:g.7148G>A, NM_007035.3:c.75G>T, NM_007035.3:c.75G>A, NM_007035.4:c.75G>T, NM_007035.4:c.75G>A, NP_008966.1:p.Gln25His

Select item 582361542.

rs58236154 has merged into rs12320366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:91056207 (GRCh38)
12:91449984 (GRCh37)
Canonical SPDI:: NC_000012.12:91056206:C:A,NC_000012.12:91056206:C:T
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.130481/8975 (ALFA)
T=0.08/48 (NorthernSweden)
T=0.083062/51 (Vietnamese)
T=0.08331/1396 (TOMMO)
T=0.085383/250 (KOREAN)
T=0.095395/29 (FINRISK)
T=0.09607/176 (Korea1K)
T=0.12082/448 (TWINSUK)
T=0.12273/473 (ALSPAC)
T=0.136607/612 (Estonian)
T=0.140281/140 (GoNL)
T=0.144195/77 (MGP)
T=0.2/8 (GENOME_DK)
T=0.203704/44 (Qatari)
T=0.231106/1157 (1000Genomes)
T=0.238304/33109 (GnomAD)
T=0.246235/65176 (TOPMED)
T=0.252538/3284 (GoESP)
T=0.283598/536 (HapMap)
A=0.298129/23461 (PAGE_STUDY)
C=0.39726/58 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000012.12:g.91056207C>A, NC_000012.12:g.91056207C>T, NC_000012.11:g.91449984C>A, NC_000012.11:g.91449984C>T, NG_021223.1:g.7148G>T, NG_021223.1:g.7148G>A, NM_007035.3:c.75G>T, NM_007035.3:c.75G>A, NM_007035.4:c.75G>T, NM_007035.4:c.75G>A, NP_008966.1:p.Gln25His