rs886039807, TMEM231

N. diseases: 11
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal breathing
CUI: C1260922
Disease: Abnormal breathing
2 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
Keratosis Follicularis
CUI: C0022595
Disease: Keratosis Follicularis
21 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
MOHR-TRANEBJAERG SYNDROME
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
19 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0