rs397516791

Orientation

plus

Stabilized

plus

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

Make rs397516791(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

15

Position

66435221

Gene

MAP2K1

is a	snp
is	mentioned by
dbSNP	rs397516791
dbSNP (classic)	rs397516791
ClinGen	rs397516791
ebi	rs397516791
HLI	rs397516791
Exac	rs397516791
Gnomad	rs397516791
Varsome	rs397516791
LitVar	rs397516791
Map	rs397516791
PheGenI	rs397516791
Biobank	rs397516791
1000 genomes	rs397516791
hgdp	rs397516791
ensembl	rs397516791
geneview	rs397516791
scholar	rs397516791
google	rs397516791
pharmgkb	rs397516791
gwascentral	rs397516791
openSNP	rs397516791
23andMe	rs397516791
SNPshot	rs397516791
SNPdbe	rs397516791
MSV3d	rs397516791
GWAS Ctlg	rs397516791

Max Magnitude

7

aka c.275T>G (p.Leu92Arg)

ClinVar
Risk	rs397516791(G;G)
Alt	rs397516791(G;G)
Reference	Rs397516791(T;T)
Significance	Probable-Pathogenic
Disease	not specified not provided
Variation	info
Gene	MAP2K1
CLNDBN	not specified not provided
Reversed	0
HGVS	NC_000015.9:g.66727559T>G
CLNSRC
CLNACC	RCV000037593.2, RCV000158005.3,