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: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0008767
Disease: Cicatrization
Cicatrization
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0241054
Disease: Skin bullae
Skin bullae
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
Distal limb muscle weakness due to peripheral neuropathy
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0424688
Disease: Small head
Small head
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
0.700 1 1994 1994
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C1850535
Disease: Absence of scalp hair
Absence of scalp hair
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0002170
Disease: Alopecia
Alopecia
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp
0.700 1 2015 2015
dbSNP: rs121912854
rs121912854
0.846 0.107 3 48592915 stop gained G/A snp 1.2E-05
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.700 1 1994 1994