rs730881048

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GG;GG)	0	common in clinvar

Make rs730881048(AA;AA)

Make rs730881048(AA;GG)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

39023127

Gene

SOS1

is a	snp
is	mentioned by
dbSNP	rs730881048
dbSNP (classic)	rs730881048
ClinGen	rs730881048
ebi	rs730881048
HLI	rs730881048
Exac	rs730881048
Gnomad	rs730881048
Varsome	rs730881048
LitVar	rs730881048
Map	rs730881048
PheGenI	rs730881048
Biobank	rs730881048
1000 genomes	rs730881048
hgdp	rs730881048
ensembl	rs730881048
geneview	rs730881048
scholar	rs730881048
google	rs730881048
pharmgkb	rs730881048
gwascentral	rs730881048
openSNP	rs730881048
23andMe	rs730881048
SNPshot	rs730881048
SNPdbe	rs730881048
MSV3d	rs730881048
GWAS Ctlg	rs730881048

Max Magnitude

0

ClinVar
Risk	rs730881048(AA;AA)
Alt	rs730881048(AA;AA)
Reference	Rs730881048(GG;GG)
Significance	Pathogenic
Disease	Rasopathy
Variation	info
Gene	SOS1
CLNDBN	Rasopathy
Reversed	1
HGVS	NC_000002.11:g.39250268_39250269delCCinsTT
CLNSRC
CLNACC	RCV000159179.1,