Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C1260922
Disease: Abnormal breathing
Abnormal breathing 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		0.700 0