Table 1 Functional SNPs in gnomAD and 1000 Genomes Phase 3.

From: A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease

RSID

Chromosome Position (GRCh37.p13)

Reference

Alternate

Amino acid position (NP_002102.4)

Mutation

Allele Frequency (gnomAD)

Allele Frequency (1000 G)

PROVEAN27 PREDICTION

SIFT28 PREDICTION

SNAP29 PREDICTION

rs362331

3215835

T

C

2311

Y/H

0.43680

0.44129

Neutral

Tolerated

Neutral

rs362272

3234980

G

A

2788

V/I

0.28390

0.21026

Neutral

Tolerated

Neutral

rs363125

3189547

C

A

1722

T/N

0.12750

0.18910

Neutral

Tolerated

Neutral

rs149109767

3230410

AGAG

A

2645

E/–

0.06067

0.02656

Deleterious

NA

—

rs35892913

3148570

G

A

1066

V/I

0.04200

0.02356

Neutral

Tolerated

Neutral

rs363075

3137674

G

A

895

G/R

0.04069

0.02376

Deleterious

Damaging

Effect

rs1143646

3148653

T

G

1093

I/M

0.03962

0.02236

Neutral

Damaging

Neutral

rs3025837

3174845

A

C

1387

N/H

0.01489

0.04153

Neutral

Tolerated

Neutral

rs34315806

3162034

C

T

1262

T/M

0.00837

0.02756

Neutral

Damaging

Neutral

rs151106561

3132038

A

G

627

Q/R

0.00523

0.00280

Neutral

Tolerated

Neutral

rs150003356

3189510

T

C

1710

C/R

0.00281

0.00100

Deleterious

Tolerated

Effect

rs3025843

3156038

A

G

1175

T/A

0.00256

0.00679

Neutral

Tolerated

Neutral

rs118005095

3129240

G

A

553

G/E

0.00242

0.00619

Neutral

Tolerated

Neutral

rs34389685

3133113

G

A

698

G/E

0.00190

0.00200

Deleterious

Damaging

Effect

rs186355914

3109095

C

T

233

A/V

0.00170

0.00020

Neutral

Damaging

Neutral

rs201702168

3221998

A

T

2446

E/D

0.00154

0.00140

Neutral

Tolerated

Neutral

rs375957195

3230428

C

A

2647

D/E

0.00153

0.00319

Neutral

Tolerated

Neutral

rs1065746

3148624

G

C

1084

D/H

0.00135

0.00020

Deleterious

Damaging

Effect

rs190593027

3144528

C

G

996

T/R

0.00110

0.00140

Neutral

Damaging

Neutral

rs201646519

3210567

T

C

2076

S/P

0.00018

0.00100

Neutral

Tolerated

Neutral

rs201760820

3134411

G

A

789

V/M

0.00047

0.00100

Neutral

Tolerated

Neutral

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