rs121913315

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	5.8	STK11 gene mutation associated with Peutz-Jeghers syndrome
(G;G)	0	common in clinvar
(G;T)	5.8	Cutaneous malignant melanoma designation in Clinvar; cancer risk?

Make rs121913315(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

1220488

Gene

STK11

is a	snp
is	mentioned by
dbSNP	rs121913315
dbSNP (classic)	rs121913315
ClinGen	rs121913315
ebi	rs121913315
HLI	rs121913315
Exac	rs121913315
Gnomad	rs121913315
Varsome	rs121913315
LitVar	rs121913315
Map	rs121913315
PheGenI	rs121913315
Biobank	rs121913315
1000 genomes	rs121913315
hgdp	rs121913315
ensembl	rs121913315
geneview	rs121913315
scholar	rs121913315
google	rs121913315
pharmgkb	rs121913315
gwascentral	rs121913315
openSNP	rs121913315
23andMe	rs121913315
SNPshot	rs121913315
SNPdbe	rs121913315
MSV3d	rs121913315
GWAS Ctlg	rs121913315

Max Magnitude

5.8

c.580G>T (p.Asp194Tyr) and also c.580G>A (p.Asp194Asn)

23andMe name for c.580G>T: i5006537

OMIM	602216
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121913315(A;A) rs121913315(T;T)
Alt	rs121913315(A;A) rs121913315(T;T)
Reference	Rs121913315(G;G)
Significance	Other
Disease	Peutz-Jeghers syndrome Adenocarcinoma of lung Neoplasm Hereditary cancer-predisposing syndrome Cutaneous malignant melanoma 1 Malignant melanoma
Variation	info
Gene	STK11
CLNDBN	Peutz-Jeghers syndrome Adenocarcinoma of lung Neoplasm Hereditary cancer-predisposing syndrome Cutaneous malignant melanoma 1 Malignant melanoma
Reversed	0
HGVS	NC_000019.9:g.1220487G>A; NC_000019.9:g.1220487G>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000168375.2, RCV000427095.1, RCV000445048.1, RCV000492479.1, RCV000007876.8, RCV000440206.1,