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Select item 18011771.

rs1801177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:19948197 (GRCh38)
8:19805708 (GRCh37)
Canonical SPDI:: NC_000008.11:19948196:G:A,NC_000008.11:19948196:G:C,NC_000008.11:19948196:G:T
Gene:: LPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: other,benign,likely-benign,risk-factor
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (KOREAN)
A=0.000013/1 (TOMMO)
A=0.000138/1 (Korea4K)
A=0.001667/1 (NorthernSweden)
A=0.006027/27 (Estonian)
A=0.017034/17 (GoNL)
A=0.017572/88 (1000Genomes)
A=0.017958/115 (1000Genomes_30X)
A=0.020498/79 (ALSPAC)
A=0.021036/78 (TWINSUK)
A=0.024345/13 (MGP)
A=0.024553/6499 (TOPMED)
A=0.025/1 (GENOME_DK)
A=0.026531/2088 (PAGE_STUDY)
A=0.027289/31 (Daghestan)
A=0.027778/6 (Qatari)
G=0.5/14 (SGDP_PRJ)
HGVS:: NC_000008.11:g.19948197G>A, NC_000008.11:g.19948197G>C, NC_000008.11:g.19948197G>T, NC_000008.10:g.19805708G>A, NC_000008.10:g.19805708G>C, NC_000008.10:g.19805708G>T, NG_008855.2:g.51481G>A, NG_008855.2:g.51481G>C, NG_008855.2:g.51481G>T, NM_000237.3:c.106G>A, NM_000237.3:c.106G>C, NM_000237.3:c.106G>T, NM_000237.2:c.106G>A, NM_000237.2:c.106G>C, NM_000237.2:c.106G>T, NP_000228.1:p.Asp36Asn, NP_000228.1:p.Asp36His, NP_000228.1:p.Asp36Tyr

dbSNP