rs104894365

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	7	Noonan syndrome
(G;G)	0	common in clinvar

Make rs104894365(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

25245345

Gene

KRAS

is a	snp
is	mentioned by
dbSNP	rs104894365
dbSNP (classic)	rs104894365
ClinGen	rs104894365
ebi	rs104894365
HLI	rs104894365
Exac	rs104894365
Gnomad	rs104894365
Varsome	rs104894365
LitVar	rs104894365
Map	rs104894365
PheGenI	rs104894365
Biobank	rs104894365
1000 genomes	rs104894365
hgdp	rs104894365
ensembl	rs104894365
geneview	rs104894365
scholar	rs104894365
google	rs104894365
pharmgkb	rs104894365
gwascentral	rs104894365
openSNP	rs104894365
23andMe	rs104894365
SNPshot	rs104894365
SNPdbe	rs104894365
MSV3d	rs104894365
GWAS Ctlg	rs104894365

Max Magnitude

7

aka c.40G>A (p.Val14Ile)

23andMe name: i5002719

OMIM	190070
Desc
Variant	0012
Related	also

OMIM	608089
Desc
Variant
Related	also

ClinVar
Risk	rs104894365(A;A)
Alt	rs104894365(A;A)
Reference	Rs104894365(G;G)
Significance	Pathogenic
Disease	Noonan syndrome 3 Endometrial carcinoma Rasopathy not provided
Variation	info
Gene	KRAS
CLNDBN	Noonan syndrome 3 Endometrial carcinoma Rasopathy not provided
Reversed	1
HGVS	NC_000012.11:g.25398279C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013420.19, RCV000119792.1, RCV000157945.1, RCV000212499.2,