Links from Gene
Items: 1 to 20 of 1000
1.
rs1491584349 has merged into rs58556047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:5370975
(GRCh38)
17:5274270
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5370965:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
T=0.15/6
(GENOME_DK)
- HGVS:
NC_000017.11:g.5370975_5370978del, NC_000017.11:g.5370976_5370978del, NC_000017.11:g.5370977_5370978del, NC_000017.11:g.5370978del, NC_000017.11:g.5370978dup, NC_000017.11:g.5370977_5370978dup, NC_000017.11:g.5370976_5370978dup, NC_000017.11:g.5370975_5370978dup, NC_000017.11:g.5370974_5370978dup, NC_000017.11:g.5370973_5370978dup, NC_000017.11:g.5370966_5370978dup, NC_000017.11:g.5370978_5370979insTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5274270_5274273del, NC_000017.10:g.5274271_5274273del, NC_000017.10:g.5274272_5274273del, NC_000017.10:g.5274273del, NC_000017.10:g.5274273dup, NC_000017.10:g.5274272_5274273dup, NC_000017.10:g.5274271_5274273dup, NC_000017.10:g.5274270_5274273dup, NC_000017.10:g.5274269_5274273dup, NC_000017.10:g.5274268_5274273dup, NC_000017.10:g.5274261_5274273dup, NC_000017.10:g.5274273_5274274insTTTTTTTTTTTTTTTTTTTTT
2.
rs1491577890 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAC
[Show Flanks]
- Chromosome:
- 17:5373694
(GRCh38)
17:5276990
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5373694:CAC:CACCAC
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACCAC=0.00017/2
(
ALFA)
CAC=0.00553/18
(GnomAD)
- HGVS:
3.
rs1491570283 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:5370966
(GRCh38)
17:5274262
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5370966::C
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
4.
rs1491565407 has merged into rs71151864 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:5314244
(GRCh38)
17:5217539
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5314234:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.5314244_5314260del, NC_000017.11:g.5314245_5314260del, NC_000017.11:g.5314246_5314260del, NC_000017.11:g.5314247_5314260del, NC_000017.11:g.5314248_5314260del, NC_000017.11:g.5314249_5314260del, NC_000017.11:g.5314250_5314260del, NC_000017.11:g.5314251_5314260del, NC_000017.11:g.5314252_5314260del, NC_000017.11:g.5314253_5314260del, NC_000017.11:g.5314254_5314260del, NC_000017.11:g.5314255_5314260del, NC_000017.11:g.5314256_5314260del, NC_000017.11:g.5314257_5314260del, NC_000017.11:g.5314258_5314260del, NC_000017.11:g.5314259_5314260del, NC_000017.11:g.5314260del, NC_000017.11:g.5314260dup, NC_000017.11:g.5314259_5314260dup, NC_000017.11:g.5314258_5314260dup, NC_000017.11:g.5314257_5314260dup, NC_000017.11:g.5314256_5314260dup, NC_000017.11:g.5314255_5314260dup, NC_000017.11:g.5314254_5314260dup, NC_000017.11:g.5314253_5314260dup, NC_000017.11:g.5314252_5314260dup, NC_000017.11:g.5314251_5314260dup, NC_000017.11:g.5314250_5314260dup, NC_000017.11:g.5314249_5314260dup, NC_000017.11:g.5314248_5314260dup, NC_000017.11:g.5314247_5314260dup, NC_000017.11:g.5314246_5314260dup, NC_000017.11:g.5314245_5314260dup, NC_000017.11:g.5314244_5314260dup, NC_000017.11:g.5314243_5314260dup, NC_000017.11:g.5314241_5314260dup, NC_000017.11:g.5314240_5314260dup, NC_000017.11:g.5314239_5314260dup, NC_000017.11:g.5314237_5314260dup, NC_000017.11:g.5314235_5314260dup, NC_000017.11:g.5314260_5314261insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5314260_5314261insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5314260_5314261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5314260_5314261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5314260_5314261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5314260_5314261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5314260_5314261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5314260_5314261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5314260_5314261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5314260_5314261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5314260_5314261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5217539_5217555del, NC_000017.10:g.5217540_5217555del, NC_000017.10:g.5217541_5217555del, NC_000017.10:g.5217542_5217555del, NC_000017.10:g.5217543_5217555del, NC_000017.10:g.5217544_5217555del, NC_000017.10:g.5217545_5217555del, NC_000017.10:g.5217546_5217555del, NC_000017.10:g.5217547_5217555del, NC_000017.10:g.5217548_5217555del, NC_000017.10:g.5217549_5217555del, NC_000017.10:g.5217550_5217555del, NC_000017.10:g.5217551_5217555del, NC_000017.10:g.5217552_5217555del, NC_000017.10:g.5217553_5217555del, NC_000017.10:g.5217554_5217555del, NC_000017.10:g.5217555del, NC_000017.10:g.5217555dup, NC_000017.10:g.5217554_5217555dup, NC_000017.10:g.5217553_5217555dup, NC_000017.10:g.5217552_5217555dup, NC_000017.10:g.5217551_5217555dup, NC_000017.10:g.5217550_5217555dup, NC_000017.10:g.5217549_5217555dup, NC_000017.10:g.5217548_5217555dup, NC_000017.10:g.5217547_5217555dup, NC_000017.10:g.5217546_5217555dup, NC_000017.10:g.5217545_5217555dup, NC_000017.10:g.5217544_5217555dup, NC_000017.10:g.5217543_5217555dup, NC_000017.10:g.5217542_5217555dup, NC_000017.10:g.5217541_5217555dup, NC_000017.10:g.5217540_5217555dup, NC_000017.10:g.5217539_5217555dup, NC_000017.10:g.5217538_5217555dup, NC_000017.10:g.5217536_5217555dup, NC_000017.10:g.5217535_5217555dup, NC_000017.10:g.5217534_5217555dup, NC_000017.10:g.5217532_5217555dup, NC_000017.10:g.5217530_5217555dup, NC_000017.10:g.5217555_5217556insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5217555_5217556insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5217555_5217556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5217555_5217556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5217555_5217556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5217555_5217556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5217555_5217556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5217555_5217556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5217555_5217556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5217555_5217556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5217555_5217556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491564442 has merged into rs55890740 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:5316844
(GRCh38)
17:5220139
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5316832:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.417/15
(GENOME_DK)
- HGVS:
NC_000017.11:g.5316844_5316856del, NC_000017.11:g.5316845_5316856del, NC_000017.11:g.5316848_5316856del, NC_000017.11:g.5316849_5316856del, NC_000017.11:g.5316850_5316856del, NC_000017.11:g.5316851_5316856del, NC_000017.11:g.5316852_5316856del, NC_000017.11:g.5316853_5316856del, NC_000017.11:g.5316854_5316856del, NC_000017.11:g.5316855_5316856del, NC_000017.11:g.5316856del, NC_000017.11:g.5316856dup, NC_000017.11:g.5316855_5316856dup, NC_000017.11:g.5316854_5316856dup, NC_000017.11:g.5316853_5316856dup, NC_000017.11:g.5316852_5316856dup, NC_000017.11:g.5316850_5316856dup, NC_000017.11:g.5316849_5316856dup, NC_000017.11:g.5316848_5316856dup, NC_000017.11:g.5316847_5316856dup, NC_000017.11:g.5316846_5316856dup, NC_000017.11:g.5316845_5316856dup, NC_000017.11:g.5316844_5316856dup, NC_000017.11:g.5316843_5316856dup, NC_000017.11:g.5316842_5316856dup, NC_000017.11:g.5316835_5316856dup, NC_000017.11:g.5316833_5316856dup, NC_000017.11:g.5316856_5316857insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.5316856_5316857insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.5316856_5316857insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.5316856_5316857insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.5316833_5316856A[32]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.5316833_5316856A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.5220139_5220151del, NC_000017.10:g.5220140_5220151del, NC_000017.10:g.5220143_5220151del, NC_000017.10:g.5220144_5220151del, NC_000017.10:g.5220145_5220151del, NC_000017.10:g.5220146_5220151del, NC_000017.10:g.5220147_5220151del, NC_000017.10:g.5220148_5220151del, NC_000017.10:g.5220149_5220151del, NC_000017.10:g.5220150_5220151del, NC_000017.10:g.5220151del, NC_000017.10:g.5220151dup, NC_000017.10:g.5220150_5220151dup, NC_000017.10:g.5220149_5220151dup, NC_000017.10:g.5220148_5220151dup, NC_000017.10:g.5220147_5220151dup, NC_000017.10:g.5220145_5220151dup, NC_000017.10:g.5220144_5220151dup, NC_000017.10:g.5220143_5220151dup, NC_000017.10:g.5220142_5220151dup, NC_000017.10:g.5220141_5220151dup, NC_000017.10:g.5220140_5220151dup, NC_000017.10:g.5220139_5220151dup, NC_000017.10:g.5220138_5220151dup, NC_000017.10:g.5220137_5220151dup, NC_000017.10:g.5220130_5220151dup, NC_000017.10:g.5220128_5220151dup, NC_000017.10:g.5220151_5220152insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.5220151_5220152insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.5220151_5220152insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.5220151_5220152insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.5220128_5220151A[32]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.5220128_5220151A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1491556194 has merged into rs55858409 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:5287608
(GRCh38)
17:5190903
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:5287598:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAA=0.365/1828
(1000Genomes)
- HGVS:
NC_000017.11:g.5287608_5287623del, NC_000017.11:g.5287611_5287623del, NC_000017.11:g.5287612_5287623del, NC_000017.11:g.5287613_5287623del, NC_000017.11:g.5287614_5287623del, NC_000017.11:g.5287615_5287623del, NC_000017.11:g.5287616_5287623del, NC_000017.11:g.5287617_5287623del, NC_000017.11:g.5287618_5287623del, NC_000017.11:g.5287619_5287623del, NC_000017.11:g.5287620_5287623del, NC_000017.11:g.5287621_5287623del, NC_000017.11:g.5287622_5287623del, NC_000017.11:g.5287623del, NC_000017.11:g.5287623dup, NC_000017.11:g.5287622_5287623dup, NC_000017.10:g.5190903_5190918del, NC_000017.10:g.5190906_5190918del, NC_000017.10:g.5190907_5190918del, NC_000017.10:g.5190908_5190918del, NC_000017.10:g.5190909_5190918del, NC_000017.10:g.5190910_5190918del, NC_000017.10:g.5190911_5190918del, NC_000017.10:g.5190912_5190918del, NC_000017.10:g.5190913_5190918del, NC_000017.10:g.5190914_5190918del, NC_000017.10:g.5190915_5190918del, NC_000017.10:g.5190916_5190918del, NC_000017.10:g.5190917_5190918del, NC_000017.10:g.5190918del, NC_000017.10:g.5190918dup, NC_000017.10:g.5190917_5190918dup
7.
rs1491540528 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:5311721
(GRCh38)
17:5215016
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5311719:ACA:A
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.005227/62
(
ALFA)
-=0.005394/721
(GnomAD)
- HGVS:
8.
rs1491525333 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:5377336
(GRCh38)
17:5280632
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5377336::C
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000076/20
(TOPMED)
- HGVS:
9.
rs1491508587 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTAG
[Show Flanks]
- Chromosome:
- 17:5383650
(GRCh38)
17:5286971
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5383650:AGTTAG:AGTTAGTTAG
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGTTAGTTAG=0./0
(
ALFA)
AGTT=0.000023/6
(TOPMED)
AGTT=0.000029/4
(GnomAD)
AGTT=0.000035/1
(TOMMO)
- HGVS:
NC_000017.11:g.5383653_5383656dup, NC_000017.10:g.5286973_5286976dup, NM_004703.6:c.*430_*433dup, NM_004703.5:c.*430_*433dup, NM_004703.4:c.*430_*433dup, XM_011524060.3:c.*430_*433dup, XM_011524060.2:c.*430_*433dup, XM_011524060.1:c.*430_*433dup, NM_001083585.3:c.*430_*433dup, NM_001083585.2:c.*430_*433dup, NM_001083585.1:c.*430_*433dup, NM_001291581.2:c.*430_*433dup, NM_001291581.1:c.*430_*433dup, XM_047437039.1:c.*430_*433dup, XM_047437038.1:c.*430_*433dup, XM_047437040.1:c.*430_*433dup, XM_047437041.1:c.*430_*433dup
10.
rs1491500221 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 17:5325349
(GRCh38)
17:5228645
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5325349::T
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000106/2
(TOMMO)
- HGVS:
11.
rs1491500052 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 17:5377335
(GRCh38)
17:5280630
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5377334:TA:
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
12.
rs1491497840 has merged into rs61075606 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 17:5331057
(GRCh38)
17:5234352
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5331055:AAA:A,NC_000017.11:5331055:AAA:AA,NC_000017.11:5331055:AAA:AAAA
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.01417/7
(NorthernSweden)
-=0.11475/1783
(TOMMO)
- HGVS:
13.
rs1491492143 has merged into rs74266330 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:5289433
(GRCh38)
17:5192728
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5289419:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:5289419:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:5289419:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:5289419:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:5289419:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:5289419:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:5289419:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.13712/82
(NorthernSweden)
-=0.2/8
(GENOME_DK)
- HGVS:
NC_000017.11:g.5289433_5289435del, NC_000017.11:g.5289434_5289435del, NC_000017.11:g.5289435del, NC_000017.11:g.5289435dup, NC_000017.11:g.5289434_5289435dup, NC_000017.11:g.5289433_5289435dup, NC_000017.11:g.5289420_5289435T[46]CTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.5192728_5192730del, NC_000017.10:g.5192729_5192730del, NC_000017.10:g.5192730del, NC_000017.10:g.5192730dup, NC_000017.10:g.5192729_5192730dup, NC_000017.10:g.5192728_5192730dup, NC_000017.10:g.5192715_5192730T[46]CTTTTTTTTTTTTTTTTT[1]
15.
rs1491463761 has merged into rs58953748 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:5365069
(GRCh38)
17:5268364
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5365061:AAAAAAAAAAAAA:AAAAAAA,NC_000017.11:5365061:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:5365061:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:5365061:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:5365061:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:5365061:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.1232/475
(ALSPAC)
-=0.2684/670
(1000Genomes)
- HGVS:
NC_000017.11:g.5365069_5365074del, NC_000017.11:g.5365072_5365074del, NC_000017.11:g.5365073_5365074del, NC_000017.11:g.5365074del, NC_000017.11:g.5365074dup, NC_000017.11:g.5365064_5365074dup, NC_000017.10:g.5268364_5268369del, NC_000017.10:g.5268367_5268369del, NC_000017.10:g.5268368_5268369del, NC_000017.10:g.5268369del, NC_000017.10:g.5268369dup, NC_000017.10:g.5268359_5268369dup
16.
rs1491429465 has merged into rs55736303 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 17:5373706
(GRCh38)
17:5277001
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000017.11:5373693:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.5373694AC[6], NC_000017.11:g.5373694AC[7], NC_000017.11:g.5373694AC[8], NC_000017.11:g.5373694AC[9], NC_000017.11:g.5373694AC[10], NC_000017.11:g.5373694AC[11], NC_000017.11:g.5373694AC[12], NC_000017.11:g.5373694AC[13], NC_000017.11:g.5373694AC[14], NC_000017.11:g.5373694AC[15], NC_000017.11:g.5373694AC[16], NC_000017.11:g.5373694AC[17], NC_000017.11:g.5373694AC[18], NC_000017.11:g.5373694AC[19], NC_000017.11:g.5373694AC[20], NC_000017.11:g.5373694AC[21], NC_000017.11:g.5373694AC[23], NC_000017.11:g.5373694AC[24], NC_000017.11:g.5373694AC[25], NC_000017.11:g.5373694AC[26], NC_000017.11:g.5373694AC[27], NC_000017.11:g.5373694AC[28], NC_000017.11:g.5373694AC[29], NC_000017.11:g.5373694AC[30], NC_000017.11:g.5373694AC[31], NC_000017.11:g.5373694AC[32], NC_000017.11:g.5373694AC[33], NC_000017.11:g.5373694AC[34], NC_000017.11:g.5373694AC[35], NC_000017.11:g.5373694AC[37], NC_000017.11:g.5373694AC[38], NC_000017.10:g.5276989AC[6], NC_000017.10:g.5276989AC[7], NC_000017.10:g.5276989AC[8], NC_000017.10:g.5276989AC[9], NC_000017.10:g.5276989AC[10], NC_000017.10:g.5276989AC[11], NC_000017.10:g.5276989AC[12], NC_000017.10:g.5276989AC[13], NC_000017.10:g.5276989AC[14], NC_000017.10:g.5276989AC[15], NC_000017.10:g.5276989AC[16], NC_000017.10:g.5276989AC[17], NC_000017.10:g.5276989AC[18], NC_000017.10:g.5276989AC[19], NC_000017.10:g.5276989AC[20], NC_000017.10:g.5276989AC[21], NC_000017.10:g.5276989AC[23], NC_000017.10:g.5276989AC[24], NC_000017.10:g.5276989AC[25], NC_000017.10:g.5276989AC[26], NC_000017.10:g.5276989AC[27], NC_000017.10:g.5276989AC[28], NC_000017.10:g.5276989AC[29], NC_000017.10:g.5276989AC[30], NC_000017.10:g.5276989AC[31], NC_000017.10:g.5276989AC[32], NC_000017.10:g.5276989AC[33], NC_000017.10:g.5276989AC[34], NC_000017.10:g.5276989AC[35], NC_000017.10:g.5276989AC[37], NC_000017.10:g.5276989AC[38]
17.
rs1491427908 has merged into rs529411322 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:5375110
(GRCh38)
17:5278405
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5375099:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:5375099:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:5375099:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:5375099:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:5375099:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:5375099:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:5375099:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:5375099:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:5375099:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:5375099:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5375099:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.02667/16
(NorthernSweden)
-=0.17712/887
(1000Genomes)
-=0.3/12
(GENOME_DK)
- HGVS:
NC_000017.11:g.5375110_5375116del, NC_000017.11:g.5375112_5375116del, NC_000017.11:g.5375113_5375116del, NC_000017.11:g.5375114_5375116del, NC_000017.11:g.5375115_5375116del, NC_000017.11:g.5375116del, NC_000017.11:g.5375116dup, NC_000017.11:g.5375115_5375116dup, NC_000017.11:g.5375114_5375116dup, NC_000017.11:g.5375110_5375116dup, NC_000017.11:g.5375116_5375117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5278405_5278411del, NC_000017.10:g.5278407_5278411del, NC_000017.10:g.5278408_5278411del, NC_000017.10:g.5278409_5278411del, NC_000017.10:g.5278410_5278411del, NC_000017.10:g.5278411del, NC_000017.10:g.5278411dup, NC_000017.10:g.5278410_5278411dup, NC_000017.10:g.5278409_5278411dup, NC_000017.10:g.5278405_5278411dup, NC_000017.10:g.5278411_5278412insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
18.
rs1491401277 has merged into rs753410845 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:5343680
(GRCh38)
17:5246975
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5343670:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.5343680_5343693del, NC_000017.11:g.5343681_5343693del, NC_000017.11:g.5343682_5343693del, NC_000017.11:g.5343683_5343693del, NC_000017.11:g.5343684_5343693del, NC_000017.11:g.5343685_5343693del, NC_000017.11:g.5343686_5343693del, NC_000017.11:g.5343687_5343693del, NC_000017.11:g.5343688_5343693del, NC_000017.11:g.5343689_5343693del, NC_000017.11:g.5343690_5343693del, NC_000017.11:g.5343691_5343693del, NC_000017.11:g.5343692_5343693del, NC_000017.11:g.5343693del, NC_000017.11:g.5343693dup, NC_000017.11:g.5343692_5343693dup, NC_000017.11:g.5343691_5343693dup, NC_000017.11:g.5343690_5343693dup, NC_000017.11:g.5343689_5343693dup, NC_000017.11:g.5343688_5343693dup, NC_000017.11:g.5343687_5343693dup, NC_000017.11:g.5343686_5343693dup, NC_000017.11:g.5343685_5343693dup, NC_000017.11:g.5343684_5343693dup, NC_000017.11:g.5343683_5343693dup, NC_000017.11:g.5343682_5343693dup, NC_000017.11:g.5343681_5343693dup, NC_000017.11:g.5343680_5343693dup, NC_000017.11:g.5343679_5343693dup, NC_000017.11:g.5343678_5343693dup, NC_000017.11:g.5343677_5343693dup, NC_000017.11:g.5343676_5343693dup, NC_000017.11:g.5343675_5343693dup, NC_000017.11:g.5343674_5343693dup, NC_000017.11:g.5343673_5343693dup, NC_000017.11:g.5343671_5343693dup, NC_000017.11:g.5343693_5343694insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5343693_5343694insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.5343693_5343694insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5246975_5246988del, NC_000017.10:g.5246976_5246988del, NC_000017.10:g.5246977_5246988del, NC_000017.10:g.5246978_5246988del, NC_000017.10:g.5246979_5246988del, NC_000017.10:g.5246980_5246988del, NC_000017.10:g.5246981_5246988del, NC_000017.10:g.5246982_5246988del, NC_000017.10:g.5246983_5246988del, NC_000017.10:g.5246984_5246988del, NC_000017.10:g.5246985_5246988del, NC_000017.10:g.5246986_5246988del, NC_000017.10:g.5246987_5246988del, NC_000017.10:g.5246988del, NC_000017.10:g.5246988dup, NC_000017.10:g.5246987_5246988dup, NC_000017.10:g.5246986_5246988dup, NC_000017.10:g.5246985_5246988dup, NC_000017.10:g.5246984_5246988dup, NC_000017.10:g.5246983_5246988dup, NC_000017.10:g.5246982_5246988dup, NC_000017.10:g.5246981_5246988dup, NC_000017.10:g.5246980_5246988dup, NC_000017.10:g.5246979_5246988dup, NC_000017.10:g.5246978_5246988dup, NC_000017.10:g.5246977_5246988dup, NC_000017.10:g.5246976_5246988dup, NC_000017.10:g.5246975_5246988dup, NC_000017.10:g.5246974_5246988dup, NC_000017.10:g.5246973_5246988dup, NC_000017.10:g.5246972_5246988dup, NC_000017.10:g.5246971_5246988dup, NC_000017.10:g.5246970_5246988dup, NC_000017.10:g.5246969_5246988dup, NC_000017.10:g.5246968_5246988dup, NC_000017.10:g.5246966_5246988dup, NC_000017.10:g.5246988_5246989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5246988_5246989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.5246988_5246989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
19.
rs1491352071 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 17:5335771
(GRCh38)
17:5239066
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5335769:TTT:T
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
20.
rs1491342039 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 17:5289419
(GRCh38)
17:5192714
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5289418:CT:
- Gene:
- RABEP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000062/8
(GnomAD)
- HGVS: