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rs786205075

From SNPedia

ClinVar
Risk rs786205075(;)
Alt rs786205075(;)
Reference rs786205075(GGGAGCCACGAA;GGGAGCCACGAA)
Significance Pathogenic
Disease Hypoparathyroidism retardation dysmorphism syndrome Kenny-Caffey syndrome type 1 not provided
Variation info
Gene TBCE
CLNDBN Hypoparathyroidism retardation dysmorphism syndrome Kenny-Caffey syndrome type 1 not provided
Reversed 0
HGVS NC_000001.10:g.235564872_235564883delGCCACGAAGGGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005608.3, RCV000191990.2, RCV000224858.1,