rs104894361

Orientation

minus

Stabilized

minus

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

Make rs104894361(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

25245370

Gene

KRAS

is a	snp
is	mentioned by
dbSNP	rs104894361
dbSNP (classic)	rs104894361
ClinGen	rs104894361
ebi	rs104894361
HLI	rs104894361
Exac	rs104894361
Gnomad	rs104894361
Varsome	rs104894361
LitVar	rs104894361
Map	rs104894361
PheGenI	rs104894361
Biobank	rs104894361
1000 genomes	rs104894361
hgdp	rs104894361
ensembl	rs104894361
geneview	rs104894361
scholar	rs104894361
google	rs104894361
pharmgkb	rs104894361
gwascentral	rs104894361
openSNP	rs104894361
23andMe	rs104894361
SNPshot	rs104894361
SNPdbe	rs104894361
MSV3d	rs104894361
GWAS Ctlg	rs104894361

Max Magnitude

7

aka c.15A>T (p.Lys5Asn)

OMIM	190070
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104894361(C;C) rs104894361(T;T)
Alt	rs104894361(C;C) rs104894361(T;T)
Reference	Rs104894361(A;A)
Significance	Pathogenic
Disease	Cardiofaciocutaneous syndrome 2 not specified not provided
Variation	info
Gene	KRAS
CLNDBN	Cardiofaciocutaneous syndrome 2 not specified not provided
Reversed	1
HGVS	NC_000012.11:g.25398304T>A; NC_000012.11:g.25398304T>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013425.25, RCV000153427.3, RCV000413067.1,