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Table 1 Rare gene variants identified in the “independent PS control group”

From: De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

Gene

Position (hg19)

Ref

Alt

MAF

Variants

dbSNP id

Freq

Pathogenicity

GERP

POLYPHEN2 prediction

HRASLS5

chr11:63,230,659

G

C

0.040

Intron_variant

rs2282479

0.017

1.14

Unknown

HRASLS5

chr11:63,233,710

A

G

0.189

Leu207Leu

rs2275999

0.100

4.16

Unknown

HRASLS5

chr11:63,256,441

C

G

0.207

Ala93Pro

rs940611

0.033

−1.03

Benign (0.000)

HRASLS5

chr11:63,258,424

C

T

unknown

Arg28Gln

unknown

0.017

−5.14

Poss-dam (0.897)

LGALS12

chr11:63,276,480

G

A

0.023

Intron_variant

rs200256001

0.033

−2.69

Unknown

LGALS12

chr11:63,277,334

A

G

0.009

Ile176Val

rs117587231

0.017

4.42

Benign (0.005)

LGALS12

chr11:63,278,621

C

G

0.333

Intron_variant

rs2239679

0.200

−0.07

Unknown

PLA2G16

chr11:63,381,458

C

T

0.072

Intron_variant

rs61929725

0.150

−5.26

Unknown

  1. Variant location is reported using hg19 coordinates. MAF, minor allele frequency according to the NCBI dbSNP137 database; Freq, frequency of the variant allele in the cohort of 30 patients; GERP, Genomic Evolutionary Rate Profiling; the POLYPHEN2 measures of pathogenicity are: Benign, possibly damaging (Poss-dam), and probably damaging based on the false discovery rate.