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: rs137852650
rs137852650
COMP
1.000 0.080 19 18786040 missense variant C/A snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.810 1.000 0 1995 2012
dbSNP: rs137852655
rs137852655
COMP
0.925 0.080 19 18783125 missense variant C/T snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.810 1.000 0 1995 2012
dbSNP: rs137852651
rs137852651
COMP
1.000 0.080 19 18786051 missense variant C/T snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.800 1.000 0 1995 2012
dbSNP: rs137852653
rs137852653
COMP
1.000 0.080 19 18787644 missense variant A/G snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.800 1.000 0 1995 2012
dbSNP: rs137852656
rs137852656
COMP
1.000 0.080 19 18787584 missense variant A/G snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.800 1.000 0 1995 2012
dbSNP: rs312262901
rs312262901
COMP
1.000 0.080 19 18785050 missense variant T/C snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.710 1.000 0 2004 2004
dbSNP: rs1555791556
rs1555791556
COMP
0.925 0.080 19 18787500 missense variant C/A snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.700 0
dbSNP: rs193922900
rs193922900
COMP
0.925 0.080 19 18786035 inframe insertion TCG/-;TCGTCG;TCGTCGTCG delins
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.700 0
dbSNP: rs28936669
rs28936669
COMP
1.000 0.080 19 18786036 missense variant T/C snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.700 0
dbSNP: rs312262899
rs312262899
COMP
1.000 0.080 19 18785063 missense variant C/G;T snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.700 0
dbSNP: rs312262900
rs312262900
COMP
1.000 0.080 19 18785056 missense variant G/A;C;T snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.700 0
dbSNP: rs312262904
rs312262904
COMP
1.000 0.080 19 18783126 missense variant C/T snv
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.700 0