rs727504317

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	7	Rasopathy; Cardio-facio-cutaneous syndrome
(G;G)	0	common in clinvar

Make rs727504317(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

66435145

Gene

MAP2K1

is a	snp
is	mentioned by
dbSNP	rs727504317
dbSNP (classic)	rs727504317
ClinGen	rs727504317
ebi	rs727504317
HLI	rs727504317
Exac	rs727504317
Gnomad	rs727504317
Varsome	rs727504317
LitVar	rs727504317
Map	rs727504317
PheGenI	rs727504317
Biobank	rs727504317
1000 genomes	rs727504317
hgdp	rs727504317
ensembl	rs727504317
geneview	rs727504317
scholar	rs727504317
google	rs727504317
pharmgkb	rs727504317
gwascentral	rs727504317
openSNP	rs727504317
23andMe	rs727504317
SNPshot	rs727504317
SNPdbe	rs727504317
MSV3d	rs727504317
GWAS Ctlg	rs727504317

Max Magnitude

7

aka c.199G>A (p.Asp67Asn)

ClinVar
Risk	rs727504317(A;A)
Alt	rs727504317(A;A)
Reference	Rs727504317(G;G)
Significance	Pathogenic
Disease	Rasopathy Cardiofaciocutaneous syndrome 3 Cardio-facio-cutaneous syndrome not provided Malignant melanoma Non-small cell lung cancer
Variation	info
Gene	MAP2K1
CLNDBN	Rasopathy Cardiofaciocutaneous syndrome 3 Cardio-facio-cutaneous syndrome not provided Malignant melanoma Non-small cell lung cancer
Reversed	0
HGVS	NC_000015.9:g.66727483G>A
CLNSRC
CLNACC	RCV000158004.2, RCV000192193.1, RCV000208771.1, RCV000212506.1, RCV000423708.1, RCV000439184.1,