rs387906954
A SNP in the GALC gene on chromosome 14. Its most notable genotype is C;C: Krabbe disease (likely)
- Gene
- GALC
- Location
- Chr 1487,965,585 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- C;GBadcarrier of one Krabbe disease allele
- C;CMost notableBadKrabbe disease (likely)
SNPedia records rs387906954 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other GALC SNPs
- rs121908010A;AKrabbe disease (likely)Very important
- rs199847983T;TKrabbe disease (likely)Very important
- rs200378205T;TKrabbe disease (likely)Very important
- rs374635469T;TKrabbe diseaseVery important
- rs387906952T;TKrabbe disease (likely)Very important
- rs387906953C;CKrabbe disease (likely)Very important
- rs387906955T;TKrabbe disease (likely)Very important
- rs398123175C;CKrabbe disease (likely)Very important
Notes
From SNPedia
Notes
aka c.953C>G, p.Pro318Arg Identified in ClinVar as pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote)
C;G
see Krabbe disease
C;C
see Krabbe disease
Source and license
Adapted from rs387906954 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.