rs2236405

Orientation

plus

Stabilized

plus

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

Make rs2236405(A;A)

Make rs2236405(A;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

95449290

Gene

PTCH1

is a	snp
is	mentioned by
dbSNP	rs2236405
dbSNP (classic)	rs2236405
ClinGen	rs2236405
ebi	rs2236405
HLI	rs2236405
Exac	rs2236405
Gnomad	rs2236405
Varsome	rs2236405
LitVar	rs2236405
Map	rs2236405
PheGenI	rs2236405
Biobank	rs2236405
1000 genomes	rs2236405
hgdp	rs2236405
ensembl	rs2236405
geneview	rs2236405
scholar	rs2236405
google	rs2236405
pharmgkb	rs2236405
gwascentral	rs2236405
openSNP	rs2236405
23andMe	rs2236405
SNPshot	rs2236405
SNPdbe	rs2236405
MSV3d	rs2236405
GWAS Ctlg	rs2236405

GMAF

0.07943

Max Magnitude

0

?	(A;A) (A;T) (T;T)	28

[PMID 24073265] Common Genetic Variations in Patched1 (PTCH1) Gene and Risk of Hirschsprung Disease in the Han Chinese Population

ClinVar
Risk	rs2236405(A;A)
Alt	rs2236405(A;A)
Reference	Rs2236405(T;T)
Significance	Other
Disease	not specified not provided Gorlin syndrome Holoprosencephaly Hereditary cancer-predisposing syndrome
Variation	info
Gene	PTCH1
CLNDBN	not specified not provided Gorlin syndrome Holoprosencephaly Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000009.11:g.98211572T>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000121893.3, RCV000127647.2, RCV000266478.1, RCV000361116.1, RCV000492383.1,