Ensembl gene ID
ENSG00000198963
Ensembl transcript ID
ENST00000376896 (canonical)
GeneCards
RORB
OMIM
601972
SFARI Gene
RORB

Gene Constraint

CategoryExp. SNVsObs. SNVsConstraint metrics
Synonymous101.1101Z = 0.01
o/e = 1 (0.85 - 1.18)
01
Missense254.4116Z = 3.08
o/e = 0.46 (0.39 - 0.53)
01
LoF26.60pLI = 1
o/e = 0 (0 - 0.11)
01
Include:
ClinVar pathogenic and likely pathogenic variants (0)
10
SFARI Variants (477)

† denotes a consequence that is for a non-canonical transcript

Cohort Key:  SPARK  SPARK      SSC  SSC

Cohort
SSC
c.-57C>T
5' UTR
0
2
18418
1.09e-4
SPARK
c.-50C>T
5' UTR
4
4
140974
2.84e-5
SPARK
c.-49G>C
5' UTR
0
2
140974
1.42e-5
SPARKSSC
c.-46C>T
5' UTR
1
4
159392
2.51e-5
SPARK
c.-41A>G
5' UTR
2
2
140974
1.42e-5
SPARK
c.-26A>T
5' UTR
1
1
140974
7.09e-6
SPARK
c.-23C>A
5' UTR
3
3
140974
2.13e-5
SPARKSSC
c.-21G>A
5' UTR
1
3
159392
1.88e-5
SPARKSSC
c.-18C>G
5' UTR
10
17
164650
1.03e-4
SPARK
c.-15G>A
5' UTR
2
2
140974
1.42e-5
SPARK
c.-15G>C
5' UTR
1
2
140974
1.42e-5
SSC
c.7+5G>C
splice region
1
3
18418
1.63e-4
SPARK
c.7+6C>A
splice region
0
1
140974
7.09e-6
SPARK
c.7+6C>T
splice region
1
2
140974
1.42e-5
SPARK
c.7+7G>A
splice region
2
2
140974
1.42e-5
SPARK
c.7+10T>C
intron
2
3
140974
2.13e-5
SPARK
c.7+12T>C
intron
2
2
140974
1.42e-5
SPARK
c.7+14del
intron
2
2
140974
1.42e-5
SPARKSSC
c.7+20C>A
intron
55
136
164650
8.26e-4
SPARKSSC
c.7+20C>T
intron
223
443
164650
2.69e-3
SPARK
c.7+21C>G
intron
1
1
140974
7.09e-6
SPARK
c.7+23A>T
intron
1
2
140974
1.42e-5
SPARK
c.7+24G>T
intron
1
1
140974
7.09e-6
SPARK
c.7+25G>A
intron
1
1
140974
7.09e-6
SPARK
c.7+25G>C
intron
1
1
140974
7.09e-6
SPARK
c.7+26C>T
intron
1
1
140974
7.09e-6
SPARK
c.7+29C>A
intron
0
1
140974
7.09e-6
SPARK
c.7+29C>G
intron
1
1
140974
7.09e-6
SPARK
c.7+31C>G
intron
0
2
140974
1.42e-5
SPARK
c.7+33del
intron
1
2
140974
1.42e-5