Table 3.

C9ORF72 sequence variants identified in ALS patients

Locationa	Variantb	Variant Effect	ALS Frequency	SNP IDc	Control MAFd
9:27566973	c.146G>C	T49R	1 FALS	NA	0.023%
9:27561628	c.620T>C	N207S	79 SALS	rs17769294	14.4%
9:27556780	c.870C>T	S290S	13 FALS, 111 SALS	rs10122902	19.7%
9:27556594	c.1056G>T	T352T	1 FALS	NA	0%
9:27548549	c.1259+6T>G	near splice donor	2 SALS	NA	0%
9:27548276	c.1404C>T	F468F	1 FALS, 2 SALS	rs141063383	0.56%

^aReferenced to hg19 (GRCh37).

^bVariants noted in Human Genome Variation Society nomenclature utilizing NM_018325.

^cSNP ID as assigned in dbSNP135.

^dControl MAF(minor allele frequency) derived from Caucasian exomes included in the ESP6500 dataset release v.0.0.14.