Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2307184
rs2307184
XRCC1
19 43546079 missense variant G/T snv 3.0E-04 4.3E-04
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3213250
rs3213250
XRCC1 ; PINLYP
19 43574077 intron variant ATTTT/- delins 5.3E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs761564262
rs761564262
XRCC1
1.000 19 43546884 missense variant C/G snv 3.2E-05
CUI: C4539948
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 		0.700 1.000 1 2017 2017
dbSNP: rs754041352
rs754041352
XRCC1
1.000 0.080 19 43552051 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0