rs28933068

Orientation

plus

Stabilized

plus

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

Make rs28933068(C;G)

Make rs28933068(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

1805644

Gene

FGFR3

is a	snp
is	mentioned by
dbSNP	rs28933068
dbSNP (classic)	rs28933068
ClinGen	rs28933068
ebi	rs28933068
HLI	rs28933068
Exac	rs28933068
Gnomad	rs28933068
Varsome	rs28933068
LitVar	rs28933068
Map	rs28933068
PheGenI	rs28933068
Biobank	rs28933068
1000 genomes	rs28933068
hgdp	rs28933068
ensembl	rs28933068
geneview	rs28933068
scholar	rs28933068
google	rs28933068
pharmgkb	rs28933068
gwascentral	rs28933068
openSNP	rs28933068
23andMe	rs28933068
SNPshot	rs28933068
SNPdbe	rs28933068
MSV3d	rs28933068
GWAS Ctlg	rs28933068

Max Magnitude

0

OMIM	134934
Desc	HYPOCHONDROPLASIA
Variant	0010
Related	also

ClinVar
Risk	rs28933068(A;A) rs28933068(G;G) rs28933068(T;T)
Alt	rs28933068(A;A) rs28933068(G;G) rs28933068(T;T)
Reference	Rs28933068(C;C)
Significance	Pathogenic
Disease	Hypochondroplasia Thanatophoric dysplasia type 1 not provided Achondroplasia Short stature
Variation	info
Gene	FGFR3
CLNDBN	Hypochondroplasia Thanatophoric dysplasia type 1 not provided Achondroplasia Short stature
Reversed	0
HGVS	NC_000004.11:g.1807371C>A; NC_000004.11:g.1807371C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017740.29, RCV000017771.24, RCV000255928.1, RCV000353403.1, RCV000017741.29, RCV000255372.1, RCV000396952.1, RCV000415460.1,