Source: CLINVAR

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: rs74315420
rs74315420
RSPO4
1.000 20 968024 missense variant T/C snv 8.8E-05; 4.0E-06 1.0E-04
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.800 1.000 0 2006 2006
dbSNP: rs74315421
rs74315421
RSPO4
1.000 20 967264 missense variant A/G snv 2.0E-05 2.8E-05
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.800 1.000 0 2006 2006
dbSNP: rs74315422
rs74315422
RSPO4
1.000 20 967230 missense variant C/T snv
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.800 1.000 0 2006 2006
dbSNP: rs121912856
rs121912856
COL7A1
0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0
dbSNP: rs370554150
rs370554150
KRT17
1.000 17 41620961 splice region variant C/T snv
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0
dbSNP: rs387907026
rs387907026
RSPO4
0.925 0.040 20 967282 stop gained G/A snv
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0
dbSNP: rs387907027
rs387907027
RSPO4
0.925 0.040 20 968028 missense variant G/A snv 2.4E-05 1.4E-05
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0
dbSNP: rs387907028
rs387907028
RSPO4
1.000 20 968019 missense variant C/G;T snv 8.0E-06
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0
dbSNP: rs74315423
rs74315423
RSPO4
1.000 20 968000 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0
dbSNP: rs765243124
rs765243124
COL17A1
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0
dbSNP: rs768138495
rs768138495
RSPO4
1.000 20 968119 frameshift variant -/C delins 1.2E-05 7.0E-06
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0
dbSNP: rs780261665
rs780261665
COL7A1
0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0