Table 4 List of Neanderthal-derived brain-related quantitative trait loci (QTL) that share associations with various autism comorbidities/characteristics by ethnic group.
From: Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings
Group | Locus | Gene | rs ID | dbSNP | Interaction | Subgroup enrichment |
|---|---|---|---|---|---|---|
WNH | 21:42575315:A>C | SLC37A1 | rs112406029 | SLC37A1 : Intron Variant LOC101928212 : 2KB Upstream Variant | NA | Epilepsy |
WNH | 21:42575315:A>C | SLC37A1 | rs112406029 | SLC37A1 : Intron Variant LOC101928212 : 2KB Upstream Variant | Family type * epilepsy | Multiplex with epilepsy |
WNH | 15:52789024:C>A | ONECUT1 | rs2075613 | ONECUT1 : Synonymous Variant LOC105370824 : 2KB Upstream Variant | Family type * epilepsy | Simplex with epilepsy |
WNH | 15:52789024:C>A | ONECUT1 | rs2075613 | ONECUT1 : Synonymous Variant LOC105370824 : 2KB Upstream Variant | ID * epilepsy | ID with epilepsy |
WNH | 15:52789024:C>A | ONECUT1 | rs2075613 | ONECUT1 : Synonymous Variant LOC105370824 : 2KB Upstream Variant | Language delay * epilepsy | Language delay with epilepsy |
WNH | 15:52789024:C > A | ONECUT1 | rs2075613 | ONECUT1 : Synonymous Variant LOC105370824 : 2KB Upstream Variant | Language regression * epilepsy | Language regression with epilepsy |
BNH | 3:128806410:C>T | RAB7A | rs4548 | RAB7A : Synonymous Variant | Family Type * language regression | Multiplex with no language regression |
BNH | 5:34908772:T>C | RAD1 | rs1805327 | RAD1 : Missense Variant (E > G) TTC23L : Intron Variant | Family Type * language regression | Multiplex with language regression |
BNH | 12:8857630:A>G | A2ML1 | rs73038782 | A2ML1 : Intron Variant | ID * family type | Multiplex with ID |
BNH | 19:10328622:A>G | RAVER1 | rs78083518 | RAVER1 : Intron Variant | ID * language delay | ID and no language delay |
BNH | 19:10328825:C>T | RAVER1 | rs3745263 | RAVER1 : Intron Variant | ID * language delay | ID and no language delay |
WHS | 20:57330052:G>A | SPO11 | rs28368064 | SPO11 : Intron Variant LOC105372687 : 2KB Upstream Variant | Family type * language regression | Multiplex with language regression |
WHS | 20:57374816:G>T | RAE1 | rs41310034 | RAE1 : Intron Variant | Family type * language regression | Multiplex with language regression |
WHS | 1:21227230:G>T | ECE1 | rs3026903 | ECE1 : Intron Variant | Family type * epilepsy | Multiplex with epilepsy |
WHS | 20:57330052:G>A | SPO11 | rs28368064 | SPO11 : Intron Variant LOC105372687 : 2KB Upstream Variant | ID * language regression | ID with language regression |
WHS | 20:57374816:G>T | RAE1 | rs41310034 | RAE1 : Intron Variant | ID * language regression | ID with language regression |
WHS | 11:9021971:A>G | SCUBE2 | rs75002200 | SCUBE2 : Intron Variant | Language regression * epilepsy | Language regression with epilepsy |
WHS | 6:41734881:C>A | TFEB | rs4487571 | TFEB : Intron Variant MIR10398 : 2KB Upstream Variant | Language regression * epilepsy | Language regression with epilepsy |
WHS | 7:770427:G>A | DNAAF5 | rs79433478 | DNAAF5 : Intron Variant | Sex * language regression | Females with language regression |
WHS | 7:869411:G>A | SUN1 | rs61744747 | SUN1 : Synonymous Variant LOC124901568 : Intron Variant | Sex * language regression | Females with language regression |
