rs17122498 - SNP

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Select item 171224981.

rs17122498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47974681 (GRCh38)
12:48368464 (GRCh37)
Canonical SPDI:: NC_000012.12:47974680:G:A
Gene:: COL2A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.008476/1338 (ALFA)
A=0.000318/5 (TOMMO)
A=0.000539/2 (TWINSUK)
A=0.001002/1 (GoNL)
A=0.001557/6 (ALSPAC)
A=0.005618/3 (MGP)
A=0.020229/5087 (GnomAD_exomes)
A=0.020833/2 (PRJEB36033)
A=0.021173/13 (Vietnamese)
A=0.023696/2877 (ExAC)
A=0.032407/7 (Qatari)
A=0.034549/72 (HGDP_Stanford)
A=0.043768/6136 (GnomAD)
A=0.046655/12349 (TOPMED)
A=0.047978/624 (GoESP)
A=0.068239/342 (1000Genomes)
A=0.068896/5422 (PAGE_STUDY)
A=0.094373/161 (HapMap)
G=0.45/18 (SGDP_PRJ)
HGVS:: NC_000012.12:g.47974681G>A, NC_000012.11:g.48368464G>A, NG_008072.1:g.34822C>T, NM_001844.5:c.4068C>T, NM_001844.4:c.4068C>T, NM_033150.3:c.3861C>T, NM_033150.2:c.3861C>T, XM_017018831.3:c.3522C>T, XM_017018831.2:c.3522C>T, XM_017018831.1:c.3522C>T, XM_017018828.1:c.4212C>T, XM_017018829.1:c.4209C>T, XM_017018830.1:c.4002C>T, XM_047428315.1:c.3522C>T

Select item 597239512.

rs59723951 has merged into rs17122498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47974681 (GRCh38)
12:48368464 (GRCh37)
Canonical SPDI:: NC_000012.12:47974680:G:A
Gene:: COL2A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.008476/1338 (ALFA)
A=0.000318/5 (TOMMO)
A=0.000539/2 (TWINSUK)
A=0.001002/1 (GoNL)
A=0.001557/6 (ALSPAC)
A=0.005618/3 (MGP)
A=0.020229/5087 (GnomAD_exomes)
A=0.020833/2 (PRJEB36033)
A=0.021173/13 (Vietnamese)
A=0.023696/2877 (ExAC)
A=0.032407/7 (Qatari)
A=0.034549/72 (HGDP_Stanford)
A=0.043768/6136 (GnomAD)
A=0.046655/12349 (TOPMED)
A=0.047978/624 (GoESP)
A=0.068239/342 (1000Genomes)
A=0.068896/5422 (PAGE_STUDY)
A=0.094373/161 (HapMap)
G=0.45/18 (SGDP_PRJ)
HGVS:: NC_000012.12:g.47974681G>A, NC_000012.11:g.48368464G>A, NG_008072.1:g.34822C>T, NM_001844.5:c.4068C>T, NM_001844.4:c.4068C>T, NM_033150.3:c.3861C>T, NM_033150.2:c.3861C>T, XM_017018831.3:c.3522C>T, XM_017018831.2:c.3522C>T, XM_017018831.1:c.3522C>T, XM_017018828.1:c.4212C>T, XM_017018829.1:c.4209C>T, XM_017018830.1:c.4002C>T, XM_047428315.1:c.3522C>T