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rs45507199

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs45507199(A;A)
Make rs45507199(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2088294
GenePKD1, TSC2
is asnp
is mentioned by
dbSNPrs45507199
ebirs45507199
HLIrs45507199
Exacrs45507199
Varsomers45507199
Maprs45507199
PheGenIrs45507199
hapmaprs45507199
1000 genomesrs45507199
hgdprs45507199
ensemblrs45507199
gopubmedrs45507199
geneviewrs45507199
scholarrs45507199
googlers45507199
pharmgkbrs45507199
gwascentralrs45507199
openSNPrs45507199
23andMers45507199
23andMe allrs45507199
SNP Nexus

SNPshotrs45507199
SNPdbers45507199
MSV3drs45507199
GWAS Ctlgrs45507199
Max Magnitude0
ClinVar
Risk rs45507199(A,C,T;A,C,T)
Alt rs45507199(A,C,T;A,C,T)
Reference rs45507199(G;G)
Significance Pathogenic
Disease Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Variation info
Gene TSC2 PKD1
CLNDBN Tuberous sclerosis syndrome not provided Tuberous sclerosis 2
Reversed 0
HGVS NC_000016.9:g.2138295G>A; NC_000016.9:g.2138295G>C; NC_000016.9:g.2138295G>T
CLNSRC Tuberous sclerosis database (TSC2)
CLNACC RCV000043227.2, RCV000190035.1, RCV000201149.1, RCV000043228.2, RCV000055513.1,