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Select item 18057941.

rs1805794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:89978251 (GRCh38)
8:90990479 (GRCh37)
Canonical SPDI:: NC_000008.11:89978250:C:G
Gene:: NBN (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.3214779/37240 (ALFA)
G=0.2696629/144 (MGP)
G=0.28656/3727 (GoESP)
G=0.3/12 (GENOME_DK)
G=0.3025766/80089 (TOPMED)
G=0.3056112/305 (GoNL)
G=0.310467/46254 (GnomAD_genomes)
G=0.3109403/24471 (PAGE_STUDY)
G=0.324973/1205 (TWINSUK)
G=0.3253762/1254 (ALSPAC)
G=0.3312359/459713 (GnomAD_exomes)
G=0.3320975/627 (HapMap)
G=0.3421053/104 (FINRISK)
G=0.3452677/41872 (ExAC)
G=0.3472829/2224 (1000Genomes_30X)
G=0.3570288/1788 (1000Genomes)
C=0.3630573/114 (SGDP_PRJ)
G=0.3633333/218 (NorthernSweden)
G=0.3691964/1654 (Estonian)
C=0.375/12 (Siberian)
G=0.3925831/307 (PRJEB37584)
G=0.4257749/261 (Vietnamese)
G=0.4444444/96 (Qatari)
G=0.4447099/1303 (KOREAN)
G=0.4474267/3234 (Korea4K)
G=0.4694323/860 (Korea1K)
G=0.4958807/38401 (TOMMO)
HGVS:: NC_000008.11:g.89978251C>G, NC_000008.10:g.90990479C>G, NG_008860.1:g.11421G>C, NM_002485.5:c.553G>C, NM_002485.4:c.553G>C, NM_001024688.3:c.307G>C, NM_001024688.2:c.307G>C, NM_001024688.1:c.307G>C, XM_011517045.2:c.307G>C, XM_011517045.1:c.307G>C, XM_024447163.2:c.307G>C, XM_024447163.1:c.307G>C, XM_011517046.2:c.553G>C, XM_011517046.1:c.553G>C, XM_047421795.1:c.-327G>C, XM_047421796.1:c.553G>C, NP_002476.2:p.Glu185Gln, NP_001019859.1:p.Glu103Gln, XP_011515347.1:p.Glu103Gln, XP_024302931.1:p.Glu103Gln, XP_011515348.1:p.Glu185Gln, XP_047277752.1:p.Glu185Gln

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