rs115556836

Orientation

plus

Stabilized

plus

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

Make rs115556836(A;A)

Make rs115556836(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

95468818

Gene	LOC100507346, PTCH1

is a	snp
is	mentioned by
dbSNP	rs115556836
dbSNP (classic)	rs115556836
ClinGen	rs115556836
ebi	rs115556836
HLI	rs115556836
Exac	rs115556836
Gnomad	rs115556836
Varsome	rs115556836
LitVar	rs115556836
Map	rs115556836
PheGenI	rs115556836
Biobank	rs115556836
1000 genomes	rs115556836
hgdp	rs115556836
ensembl	rs115556836
geneview	rs115556836
scholar	rs115556836
google	rs115556836
pharmgkb	rs115556836
gwascentral	rs115556836
openSNP	rs115556836
23andMe	rs115556836
SNPshot	rs115556836
SNPdbe	rs115556836
MSV3d	rs115556836
GWAS Ctlg	rs115556836

Merged from

Rs28936404

GMAF

0.003673

Max Magnitude

0

OMIM	601309
Desc
Variant	0012
Related	also

ClinVar
Risk	rs115556836(A;A)
Alt	rs115556836(A;A)
Reference	Rs115556836(G;G)
Significance	Other
Disease	Holoprosencephaly 7 not provided not specified Gorlin syndrome Holoprosencephaly
Variation	info
Gene	LOC100507346 PTCH1
CLNDBN	Holoprosencephaly 7 not provided not specified Gorlin syndrome Holoprosencephaly
Reversed	0
HGVS	NC_000009.11:g.98231100G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008705.3, RCV000034564.1, RCV000078462.6, RCV000206005.4, RCV000270753.1,