Table 1 Some ClinVar variants with minor reference alleles. Allele frequencies are reported from the Exome Aggregation Consortium (ExAC)

rs1169305

A

A

A

S/G

G

N

S

Maturity onset diabetes

pathogenic

rs4784677

C

C

C

S/N

N

N

S

Bardet-biedl syndrome

pathogenic

rs497116

C

T

T

R/Q

Q

Q

R

Sepsis

risk factor

rs6025

T

C

T

Q/R

R

Q

Q

Factor V Leiden

pathogenic

rs283413

A

C

A

T/P

P

P

T

Parkinson disease

risk factor

rs820878

T

T

T

L/S

S

S

L

Sandhoff disease

pathogenic

rs2476601

A

A

A

W/R

R

R

W

(multiple autoimmune diseases)

risk factor

rs450046

C

C

C

R/Q

–

Q

R

Proline Dehydrogenase deficiency

pathogenic

rs12021720

T

T

T

S/G

G

G

S

Maple syrup urine disease

pathogenic

rs6003

C

C

C

R/H

H

H

R

Factor XII deficiency

pathogenic

rs1154510

T

T

T

T/A

A

A

T

Hawkinsinuria

pathogenic

rs7076156

A

A

A

A/T

G

–

A

Nephrolithiasis

risk factor

rs1801265

G

A

G

R/C

R

R

R

Dihydropyrimidine dehydrogenase deficiency

pathogenic

rs1799983

T

T

T

D/E

E

E

D

Ischemic heart disease

risk factor

rs2227564

T

T

T

L/P

Q

Q

L

Alzheimer disease

risk factor

rs1061170

C

C

C

H/Y

N

W

H

Basal lamina drusen

pathogenic

rs1341667

T

T

T

Y/H

Y

Y

H

Pre-eclampsia

risk factor

rs2073711

A

A

A

I/T

I

I

T

Lumbar disc disease

risk factor

rs237025

G

G

G

V/M

M

–

V

Diabetes mellitus

risk factor

rs3733402

G

G

G

S/N

N

N

S

Prekallikrein deficiency

pathogenic