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+ Genes 10

+ Genes associated with diseases 7

Genes at Omim

CD207, EMG1, FAM58A, PRKDC, RECQL4, SLC37A4, SLC46A1,
CD207 [?Birbeck granule deficiency], 613393 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
FAM58A STAR syndrome, 300707 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)

Genes at Clinical Genomics Database

CD207, EMG1, FAM58A, PRKDC, RECQL4, SLC37A4, SLC46A1,
CD207 Birbeck granule deficiency
EMG1 Bowen-Conradi syndrome
FAM58A STAR syndrome
Toe syndactyly, telecanthus, and anogenital and renal malformations
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC46A1 Folate malabsorption, hereditary

Genes at HGMD

Summary

Number of Variants: 15
Number of Genes: 10

Export to: CSV
  • Page 1 of 1

CD207
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 2 rs11450450,rs397692276
dbSNP Clinvar 		71062833 3515.42 G GC PASS 1/1 86 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00025 None None None None None None CD207|0.004253024|86.68%

CLTCL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 22 rs11386977
dbSNP Clinvar 		19189003 5999.46 A AC PASS 1/1 154 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%

CYP3A43
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 7 rs61469810
dbSNP Clinvar 		99434077 733.27 TA T PASS 0/1 32 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.10543 0.10540 0.10912 None None None None None None CYP3A43|0.206279007|35.98%
View 13ac00301-2_s1 genome 7 . 99434078 48.05 A . LowGQX 0 11 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.10543 0.10540 0.10912 None None None None None None CYP3A43|0.206279007|35.98%

EMG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 12 rs60117710
dbSNP Clinvar 		7080210 3970.87 A AG PASS 1/1 100 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00395 None None None None None None EMG1|0.122491052|47.03%

FAM58A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome X rs199537978
dbSNP Clinvar 		152864477 981.7 G GC PASS 1/1 27 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.04871 None None None None None None FAM58A|0.05294971|61.79%

PRB3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 12 rs3842295
dbSNP Clinvar 		11420333 607.11 AG A SB 1/1 19 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.82408 0.82410 0.10774 None None None None None None PRB3|0.000537603|98.24%
View 13ac00301-2_s1 genome 12 . 11420334 0.0 G . LowGQX . 6 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.82408 0.82410 0.10774 None None None None None None PRB3|0.000537603|98.24%

PRKDC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 8 rs11411516,rs397814002
dbSNP Clinvar 		48805816 6439.01 A AG PASS 1/1 155 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00078 None None None None None None PRKDC|0.642781418|10.36%

RECQL4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 8 rs11342077,rs398010167
dbSNP Clinvar 		145738767 8447.64 CG C PASS 1/1 204 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None RECQL4|0.005456729|85.27%
View 13ac00301-2_s1 genome 8 . 145738768 0.0 G . LowGQX . 0 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None RECQL4|0.005456729|85.27%

SLC37A4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 11 rs56966114,rs547203028
dbSNP Clinvar 		118898435 6427.1 AC A PASS 1/1 169 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None SLC37A4|0.255014905|31.13%
View 13ac00301-2_s1 genome 11 . 118898436 0.0 C . LowGQX . 21 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None SLC37A4|0.255014905|31.13%

SLC46A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 17 rs5819844,rs561780114
dbSNP Clinvar 		26727721 6782.03 GA G PASS 1/1 162 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00033 None None None None None None SARM1|0.349245398|24.19%,SLC46A1|0.07823181|55.6%
View 13ac00301-2_s1 genome 17 . 26727722 0.0 A . LowGQX . 3 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00033 None None None None None None SARM1|0.349245398|24.19%,SLC46A1|0.07823181|55.6%
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