Microcephaly
Other
976 variants
24 genes
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Associated Genes (24)
NBN
ALG13
GNAO1
SCN1A
RTTN
PEX1
PNKP
SBF1
XRCC4
CTU2
TSEN54
SBDS
PLA2G6
DHCR7
CPAP
TCF4
KCNJ10
CSTB
HPRT1
PQBP1
ASPM
XRCC2
GATA4
PTPN11
Associated Variants (976)
RSID
Gene
Risk Allele
Odds Ratio
Evidence
RS104895033
NBN
—
—
strong
RS398122394
ALG13
—
—
strong
RS587777057
GNAO1
—
—
strong
RS121917994
SCN1A
—
—
strong
RS318240757
RTTN
—
—
strong
RS144825021
PEX1
—
—
strong
RS200611702
PNKP
—
—
strong
RS376854895
PNKP
—
—
strong
RS116192442
PNKP
—
—
strong
RS148491228
PNKP
—
—
strong
RS201503405
PNKP
—
—
strong
RS104895030
NBN
—
—
strong
RS104895032
NBN
—
—
strong
RS587776986
SBF1
—
—
strong
RS61754796
NBN
—
—
strong
RS587779351
XRCC4
—
—
strong
RS146605798
NBN
—
—
strong
RS200297914
NBN
—
—
strong
RS370229163
NBN
—
—
strong
RS529340553
NBN
—
—
strong
RS28538230
NBN
—
—
strong
RS587780090
NBN
—
—
strong
RS142334798
NBN
—
—
strong
RS146989944
NBN
—
—
strong
RS201104411
CTU2
—
—
strong
RS121908974
NBN
—
—
strong
RS113994152
TSEN54
—
—
strong
RS113993993
SBDS
—
—
strong
RS267606956
PNKP
—
—
strong
RS587784365
PNKP
—
—
strong
RS267606957
PNKP
—
—
strong
RS121908681
PLA2G6
—
—
strong
RS80338860
DHCR7
—
—
strong
RS587776650
NBN
—
—
strong
RS864309668
NBN
—
—
strong
RS864309669
NBN
—
—
strong
RS121908973
NBN
—
—
strong
RS61754966
NBN
—
—
strong
RS199422203
CPAP
—
—
strong
RS34767364
NBN
—
—
strong
RS864309670
NBN
—
—
strong
RS121909123
TCF4
—
—
strong
RS137853066
KCNJ10
—
—
strong
RS147484110
CSTB
—
—
strong
RS137852494
HPRT1
—
—
strong
RS606231193
PQBP1
—
—
strong
RS199422161
ASPM
—
—
strong
RS143153871
XRCC2
—
—
strong
RS115099192
GATA4
—
—
strong
RS397507520
PTPN11
—
—
strong
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