rs2735333 - SNP

Select item 27353331.

rs2735333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:91056213 (GRCh38)
12:91449990 (GRCh37)
Canonical SPDI:: NC_000012.12:91056212:C:G,NC_000012.12:91056212:C:T
Gene:: KERA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.237571/51916 (ALFA)
C=0.160714/9 (Siberian)
C=0.181667/109 (NorthernSweden)
C=0.190789/58 (FINRISK)
C=0.197917/95 (SGDP_PRJ)
C=0.2/12 (PRJEB36033)
C=0.20412/109 (MGP)
C=0.20685/767 (TWINSUK)
C=0.208095/802 (ALSPAC)
C=0.209457/3510 (TOMMO)
C=0.215719/129 (Vietnamese)
C=0.225/9 (GENOME_DK)
C=0.226339/1014 (Estonian)
C=0.230461/230 (GoNL)
C=0.235314/689 (KOREAN)
C=0.251638/461 (Korea1K)
C=0.268365/66700 (GnomAD_exomes)
C=0.275142/33148 (ExAC)
C=0.305556/66 (Qatari)
C=0.317658/662 (HGDP_Stanford)
C=0.357457/49668 (GnomAD)
C=0.366887/4771 (GoESP)
C=0.373569/98880 (TOPMED)
C=0.385072/1928 (1000Genomes)
C=0.426984/807 (HapMap)
HGVS:: NC_000012.12:g.91056213C>G, NC_000012.12:g.91056213C>T, NC_000012.11:g.91449990C>G, NC_000012.11:g.91449990C>T, NG_021223.1:g.7142G>C, NG_021223.1:g.7142G>A, NM_007035.3:c.69G>C, NM_007035.3:c.69G>A, NM_007035.4:c.69G>C, NM_007035.4:c.69G>A

Select item 608501302.

rs60850130 has merged into rs2735333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:91056213 (GRCh38)
12:91449990 (GRCh37)
Canonical SPDI:: NC_000012.12:91056212:C:G,NC_000012.12:91056212:C:T
Gene:: KERA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.237571/51916 (ALFA)
C=0.160714/9 (Siberian)
C=0.181667/109 (NorthernSweden)
C=0.190789/58 (FINRISK)
C=0.197917/95 (SGDP_PRJ)
C=0.2/12 (PRJEB36033)
C=0.20412/109 (MGP)
C=0.20685/767 (TWINSUK)
C=0.208095/802 (ALSPAC)
C=0.209457/3510 (TOMMO)
C=0.215719/129 (Vietnamese)
C=0.225/9 (GENOME_DK)
C=0.226339/1014 (Estonian)
C=0.230461/230 (GoNL)
C=0.235314/689 (KOREAN)
C=0.251638/461 (Korea1K)
C=0.268365/66700 (GnomAD_exomes)
C=0.275142/33148 (ExAC)
C=0.305556/66 (Qatari)
C=0.317658/662 (HGDP_Stanford)
C=0.357457/49668 (GnomAD)
C=0.366887/4771 (GoESP)
C=0.373569/98880 (TOPMED)
C=0.385072/1928 (1000Genomes)
C=0.426984/807 (HapMap)
HGVS:: NC_000012.12:g.91056213C>G, NC_000012.12:g.91056213C>T, NC_000012.11:g.91449990C>G, NC_000012.11:g.91449990C>T, NG_021223.1:g.7142G>C, NG_021223.1:g.7142G>A, NM_007035.3:c.69G>C, NM_007035.3:c.69G>A, NM_007035.4:c.69G>C, NM_007035.4:c.69G>A

Select item 178530783.

rs17853078 has merged into rs2735333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:91056213 (GRCh38)
12:91449990 (GRCh37)
Canonical SPDI:: NC_000012.12:91056212:C:G,NC_000012.12:91056212:C:T
Gene:: KERA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.237571/51916 (ALFA)
C=0.160714/9 (Siberian)
C=0.181667/109 (NorthernSweden)
C=0.190789/58 (FINRISK)
C=0.197917/95 (SGDP_PRJ)
C=0.2/12 (PRJEB36033)
C=0.20412/109 (MGP)
C=0.20685/767 (TWINSUK)
C=0.208095/802 (ALSPAC)
C=0.209457/3510 (TOMMO)
C=0.215719/129 (Vietnamese)
C=0.225/9 (GENOME_DK)
C=0.226339/1014 (Estonian)
C=0.230461/230 (GoNL)
C=0.235314/689 (KOREAN)
C=0.251638/461 (Korea1K)
C=0.268365/66700 (GnomAD_exomes)
C=0.275142/33148 (ExAC)
C=0.305556/66 (Qatari)
C=0.317658/662 (HGDP_Stanford)
C=0.357457/49668 (GnomAD)
C=0.366887/4771 (GoESP)
C=0.373569/98880 (TOPMED)
C=0.385072/1928 (1000Genomes)
C=0.426984/807 (HapMap)
HGVS:: NC_000012.12:g.91056213C>G, NC_000012.12:g.91056213C>T, NC_000012.11:g.91449990C>G, NC_000012.11:g.91449990C>T, NG_021223.1:g.7142G>C, NG_021223.1:g.7142G>A, NM_007035.3:c.69G>C, NM_007035.3:c.69G>A, NM_007035.4:c.69G>C, NM_007035.4:c.69G>A

dbSNP