Links from Gene
Items: 1 to 20 of 1000
1.
rs1491521466 has merged into rs1289442335 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 2:161306791
(GRCh38)
2:162163302
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161306781:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:161306781:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:161306781:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:161306781:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:161306781:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491442356 has merged into rs1162637393 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:161389899
(GRCh38)
2:162246410
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:161389889:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.161389899_161389912del, NC_000002.12:g.161389900_161389912del, NC_000002.12:g.161389901_161389912del, NC_000002.12:g.161389902_161389912del, NC_000002.12:g.161389905_161389912del, NC_000002.12:g.161389906_161389912del, NC_000002.12:g.161389907_161389912del, NC_000002.12:g.161389908_161389912del, NC_000002.12:g.161389909_161389912del, NC_000002.12:g.161389910_161389912del, NC_000002.12:g.161389911_161389912del, NC_000002.12:g.161389912del, NC_000002.12:g.161389890_161389912T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.161389912dup, NC_000002.12:g.161389911_161389912dup, NC_000002.12:g.161389910_161389912dup, NC_000002.12:g.161389909_161389912dup, NC_000002.12:g.161389908_161389912dup, NC_000002.12:g.161389907_161389912dup, NC_000002.12:g.161389906_161389912dup, NC_000002.12:g.161389905_161389912dup, NC_000002.12:g.161389904_161389912dup, NC_000002.12:g.161389903_161389912dup, NC_000002.12:g.161389902_161389912dup, NC_000002.12:g.161389901_161389912dup, NC_000002.12:g.161389900_161389912dup, NC_000002.12:g.161389899_161389912dup, NC_000002.12:g.161389898_161389912dup, NC_000002.12:g.161389896_161389912dup, NC_000002.12:g.161389895_161389912dup, NC_000002.12:g.161389894_161389912dup, NC_000002.12:g.161389892_161389912dup, NC_000002.12:g.161389890_161389912T[44]GTTTTT[2]T[36], NC_000002.12:g.161389891_161389912dup, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389890_161389912T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.161389912_161389913insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246410_162246423del, NC_000002.11:g.162246411_162246423del, NC_000002.11:g.162246412_162246423del, NC_000002.11:g.162246413_162246423del, NC_000002.11:g.162246416_162246423del, NC_000002.11:g.162246417_162246423del, NC_000002.11:g.162246418_162246423del, NC_000002.11:g.162246419_162246423del, NC_000002.11:g.162246420_162246423del, NC_000002.11:g.162246421_162246423del, NC_000002.11:g.162246422_162246423del, NC_000002.11:g.162246423del, NC_000002.11:g.162246401_162246423T[23]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.162246423dup, NC_000002.11:g.162246422_162246423dup, NC_000002.11:g.162246421_162246423dup, NC_000002.11:g.162246420_162246423dup, NC_000002.11:g.162246419_162246423dup, NC_000002.11:g.162246418_162246423dup, NC_000002.11:g.162246417_162246423dup, NC_000002.11:g.162246416_162246423dup, NC_000002.11:g.162246415_162246423dup, NC_000002.11:g.162246414_162246423dup, NC_000002.11:g.162246413_162246423dup, NC_000002.11:g.162246412_162246423dup, NC_000002.11:g.162246411_162246423dup, NC_000002.11:g.162246410_162246423dup, NC_000002.11:g.162246409_162246423dup, NC_000002.11:g.162246407_162246423dup, NC_000002.11:g.162246406_162246423dup, NC_000002.11:g.162246405_162246423dup, NC_000002.11:g.162246403_162246423dup, NC_000002.11:g.162246401_162246423T[44]GTTTTT[2]T[36], NC_000002.11:g.162246402_162246423dup, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246401_162246423T[54]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.162246423_162246424insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491302821 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:161383981
(GRCh38)
2:162240493
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161383981:G:GG
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000043/6
(GnomAD)
G=0.000049/13
(TOPMED)
- HGVS:
4.
rs1491298173 has merged into rs35338761 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA
[Show Flanks]
- Chromosome:
- 2:161343839
(GRCh38)
2:162200350
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161343827:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:161343827:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:161343827:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:161343827:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:161343827:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.0649/325
(1000Genomes)
AA=0.1296/77
(NorthernSweden)
AA=0.15/6
(GENOME_DK)
- HGVS:
5.
rs1491264229 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGT,GTTGT,GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGT
[Show Flanks]
- Chromosome:
- 2:161389890
(GRCh38)
2:162246402
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161389890:T:TGT,NC_000002.12:161389890:T:TGTGT,NC_000002.12:161389890:T:TGTTGT,NC_000002.12:161389890:T:TGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGT
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTTGT=0./0
(
ALFA)
TG=0.00076/8
(TOMMO)
TGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG=0.00114/2
(Korea1K)
- HGVS:
6.
rs1491241192 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:161334543
(GRCh38)
2:162191055
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161334543:TTTTTT:TTTTTTT
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1491193503 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:161359499
(GRCh38)
2:162216010
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161359498:AT:
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491186136 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:161334543
(GRCh38)
2:162191054
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161334542:AT:
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
11.
rs1491075133 has merged into rs34424898 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 2:161342343
(GRCh38)
2:162198854
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161342333:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:161342333:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:161342333:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:161342333:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:161342333:TTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.06167/37
(NorthernSweden)
T=0.07201/267
(TWINSUK)
T=0.08095/312
(ALSPAC)
T=0.08486/425
(1000Genomes)
- HGVS:
12.
rs1491065117 has merged into rs34156868 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 2:161338355
(GRCh38)
2:162194866
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161338341:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:161338341:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:161338341:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:161338341:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:161338341:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:161338341:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.0659/330
(1000Genomes)
TT=0.125/5
(GENOME_DK)
TT=0.3104/185
(NorthernSweden)
- HGVS:
NC_000002.12:g.161338355_161338358del, NC_000002.12:g.161338356_161338358del, NC_000002.12:g.161338357_161338358del, NC_000002.12:g.161338358del, NC_000002.12:g.161338358dup, NC_000002.12:g.161338357_161338358dup, NC_000002.11:g.162194866_162194869del, NC_000002.11:g.162194867_162194869del, NC_000002.11:g.162194868_162194869del, NC_000002.11:g.162194869del, NC_000002.11:g.162194869dup, NC_000002.11:g.162194868_162194869dup
13.
rs1490986124 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:161342017
(GRCh38)
2:162198529
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161342017::G
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490967434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:161310923
(GRCh38)
2:162167434
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161310922:A:C,NC_000002.12:161310922:A:G
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490942008 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:161308583
(GRCh38)
2:162165094
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161308582:T:G
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000034/9
(TOPMED)
- HGVS:
16.
rs1490923249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:161357817
(GRCh38)
2:162214328
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161357816:G:A
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
17.
rs1490878560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:161376632
(GRCh38)
2:162233143
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161376631:T:C
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
18.
rs1490809220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:161394182
(GRCh38)
2:162250693
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161394181:G:A
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490774303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:161317296
(GRCh38)
2:162173807
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161317295:C:T
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490767867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:161364900
(GRCh38)
2:162221411
(GRCh37)
- Canonical SPDI:
- NC_000002.12:161364899:T:C
- Gene:
- PSMD14 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: