rs104894364

Orientation

minus

Stabilized

minus

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

Make rs104894364(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

25227351

Gene

KRAS

is a	snp
is	mentioned by
dbSNP	rs104894364
dbSNP (classic)	rs104894364
ClinGen	rs104894364
ebi	rs104894364
HLI	rs104894364
Exac	rs104894364
Gnomad	rs104894364
Varsome	rs104894364
LitVar	rs104894364
Map	rs104894364
PheGenI	rs104894364
Biobank	rs104894364
1000 genomes	rs104894364
hgdp	rs104894364
ensembl	rs104894364
geneview	rs104894364
scholar	rs104894364
google	rs104894364
pharmgkb	rs104894364
gwascentral	rs104894364
openSNP	rs104894364
23andMe	rs104894364
SNPshot	rs104894364
SNPdbe	rs104894364
MSV3d	rs104894364
GWAS Ctlg	rs104894364

Max Magnitude

7

aka c.173C>T (p.Thr58Ile)

23andMe name: i5002720

OMIM	190070
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894364(T;T)
Alt	rs104894364(T;T)
Reference	Rs104894364(C;C)
Significance	Pathogenic
Disease	Noonan syndrome 3 not provided Noonan syndrome
Variation	info
Gene	KRAS
CLNDBN	Noonan syndrome 3 not provided Noonan syndrome
Reversed	1
HGVS	NC_000012.11:g.25380285G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013419.20, RCV000157933.1, RCV000211785.1,