rs104894359

Orientation

minus

Stabilized

minus

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

Make rs104894359(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

25227346

Gene

KRAS

is a	snp
is	mentioned by
dbSNP	rs104894359
dbSNP (classic)	rs104894359
ClinGen	rs104894359
ebi	rs104894359
HLI	rs104894359
Exac	rs104894359
Gnomad	rs104894359
Varsome	rs104894359
LitVar	rs104894359
Map	rs104894359
PheGenI	rs104894359
Biobank	rs104894359
1000 genomes	rs104894359
hgdp	rs104894359
ensembl	rs104894359
geneview	rs104894359
scholar	rs104894359
google	rs104894359
pharmgkb	rs104894359
gwascentral	rs104894359
openSNP	rs104894359
23andMe	rs104894359
SNPshot	rs104894359
SNPdbe	rs104894359
MSV3d	rs104894359
GWAS Ctlg	rs104894359

Max Magnitude

7

aka c.178G>C (p.Gly60Arg)

23andMe name: i6013759

OMIM	190070
Desc
Variant	0009
Related	also

OMIM	190070
Desc
Variant	0020
Related	also

ClinVar
Risk	rs104894359(A;A) rs104894359(C;C)
Alt	rs104894359(A;A) rs104894359(C;C)
Reference	Rs104894359(G;G)
Significance	Pathogenic
Disease	Cardiofaciocutaneous syndrome 2 Rasopathy not provided Noonan syndrome 3
Variation	info
Gene	KRAS
CLNDBN	Cardiofaciocutaneous syndrome 2 Rasopathy not provided Noonan syndrome 3
Reversed	1
HGVS	NC_000012.11:g.25380280C>G; NC_000012.11:g.25380280C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013416.23, RCV000157935.2, RCV000254661.1, RCV000013428.23, RCV000157934.3,