rs17639446

plus

Geno	Mag	Summary
(A;A)	0	common in complete genomics

Make rs17639446(A;C)

Make rs17639446(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50196542

Gene

COL1A1

is a	snp
is	mentioned by
dbSNP	rs17639446
dbSNP (classic)	rs17639446
ClinGen	rs17639446
ebi	rs17639446
HLI	rs17639446
Exac	rs17639446
Gnomad	rs17639446
Varsome	rs17639446
LitVar	rs17639446
Map	rs17639446
PheGenI	rs17639446
Biobank	rs17639446
1000 genomes	rs17639446
hgdp	rs17639446
ensembl	rs17639446
geneview	rs17639446
scholar	rs17639446
google	rs17639446
pharmgkb	rs17639446
gwascentral	rs17639446
openSNP	rs17639446
23andMe	rs17639446
SNPshot	rs17639446
SNPdbe	rs17639446
MSV3d	rs17639446
GWAS Ctlg	rs17639446

GMAF

0.06152

Max Magnitude

0

?

(A;A) (A;C) (C;C)

28

[PMID 20617897 ] Polymorphisms in maternal and fetal genes encoding for proteins involved in extracellular matrix metabolism alter the risk for small-for-gestational-age

ClinVar
Risk	rs17639446(C;C)
Alt	rs17639446(C;C)
Reference	Rs17639446(A;A)
Significance	Probable-non-pathogenic
Disease	not specified Ehlers-Danlos syndrome Infantile cortical hyperostosis Osteogenesis Imperfecta
Variation	info
Gene	COL1A1
CLNDBN	not specified Ehlers-Danlos syndrome, type 7A Infantile cortical hyperostosis Osteogenesis Imperfecta, Dominant
Reversed	0
HGVS	NC_000017.10:g.48273903A>C
CLNSRC
CLNACC	RCV000242449.2, RCV000291081.1, RCV000339030.1, RCV000399252.1,