rs138911275

Orientation

plus

Stabilized

plus

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

Make rs138911275(A;A)

Make rs138911275(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

95458026

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs138911275
dbSNP (classic)	rs138911275
ClinGen	rs138911275
ebi	rs138911275
HLI	rs138911275
Exac	rs138911275
Gnomad	rs138911275
Varsome	rs138911275
LitVar	rs138911275
Map	rs138911275
PheGenI	rs138911275
Biobank	rs138911275
1000 genomes	rs138911275
hgdp	rs138911275
ensembl	rs138911275
geneview	rs138911275
scholar	rs138911275
google	rs138911275
pharmgkb	rs138911275
gwascentral	rs138911275
openSNP	rs138911275
23andMe	rs138911275
SNPshot	rs138911275
SNPdbe	rs138911275
MSV3d	rs138911275
GWAS Ctlg	rs138911275

Merged from

Rs28936405

Max Magnitude

0

ClinVar
Risk	rs138911275(A;A)
Alt	rs138911275(A;A)
Reference	Rs138911275(G;G)
Significance	Pathogenic
Disease	Holoprosencephaly 7 not provided Gorlin syndrome not specified Holoprosencephaly sequence
Variation	info
Gene	PTCH1
CLNDBN	Holoprosencephaly 7 not provided Gorlin syndrome not specified Holoprosencephaly sequence
Reversed	0
HGVS	NC_000009.11:g.98220308G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008707.3, RCV000034570.1, RCV000119145.5, RCV000121888.2, RCV000148761.1,