rs267606987

Orientation

minus

Stabilized

minus

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

Make rs267606987(A;G)

Make rs267606987(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

27958559

Gene

PTHLH

is a	snp
is	mentioned by
dbSNP	rs267606987
dbSNP (classic)	rs267606987
ClinGen	rs267606987
ebi	rs267606987
HLI	rs267606987
Exac	rs267606987
Gnomad	rs267606987
Varsome	rs267606987
LitVar	rs267606987
Map	rs267606987
PheGenI	rs267606987
Biobank	rs267606987
1000 genomes	rs267606987
hgdp	rs267606987
ensembl	rs267606987
geneview	rs267606987
scholar	rs267606987
google	rs267606987
pharmgkb	rs267606987
gwascentral	rs267606987
openSNP	rs267606987
23andMe	rs267606987
SNPshot	rs267606987
SNPdbe	rs267606987
MSV3d	rs267606987
GWAS Ctlg	rs267606987

Max Magnitude

0

ClinVar
Risk	rs267606987(G;G)
Alt	rs267606987(G;G)
Reference	Rs267606987(A;A)
Significance	Pathogenic
Disease	Brachydactyly type E2
Variation	info
Gene	PTHLH
CLNDBN	Brachydactyly type E2
Reversed	1
HGVS	NC_000012.11:g.28111492T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014747.25,