rs199475570

Orientation

minus

Stabilized

minus

Make rs199475570(-;-)

Make rs199475570(-;GAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAG)

Make rs199475570(GAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAG;GAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAG)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

102894735

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475570
dbSNP (classic)	rs199475570
ClinGen	rs199475570
ebi	rs199475570
HLI	rs199475570
Exac	rs199475570
Gnomad	rs199475570
Varsome	rs199475570
LitVar	rs199475570
Map	rs199475570
PheGenI	rs199475570
Biobank	rs199475570
1000 genomes	rs199475570
hgdp	rs199475570
ensembl	rs199475570
geneview	rs199475570
scholar	rs199475570
google	rs199475570
pharmgkb	rs199475570
gwascentral	rs199475570
openSNP	rs199475570
23andMe	rs199475570
SNPshot	rs199475570
SNPdbe	rs199475570
MSV3d	rs199475570
GWAS Ctlg	rs199475570

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Property "RefGeno" (as page type) with input value "rs199475570(AGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGG;AGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGG)" contains invalid characters or is incomplete and therefore can cause unexpected results during a query or annotation process.rs199475570(AGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGG;AGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGG)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.12:g.102894735_102894918del184
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000615.3, RCV000088856.1,