Links from Gene
Items: 1 to 20 of 4307
1.
rs1491572621 has merged into rs957838535 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAA,AAAA
[Show Flanks]
- Chromosome:
- 12:50084367
(GRCh38)
12:50478150
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50084366:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:50084366:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:50084366:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:50084366:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.000004/1
(TOPMED)
A=0.00657/110
(TOMMO)
- HGVS:
2.
rs1491443243 has merged into rs60619880 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:50092244
(GRCh38)
12:50486027
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50092235:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.50092244_50092257del, NC_000012.12:g.50092245_50092257del, NC_000012.12:g.50092246_50092257del, NC_000012.12:g.50092247_50092257del, NC_000012.12:g.50092248_50092257del, NC_000012.12:g.50092249_50092257del, NC_000012.12:g.50092250_50092257del, NC_000012.12:g.50092251_50092257del, NC_000012.12:g.50092252_50092257del, NC_000012.12:g.50092253_50092257del, NC_000012.12:g.50092254_50092257del, NC_000012.12:g.50092255_50092257del, NC_000012.12:g.50092256_50092257del, NC_000012.12:g.50092257del, NC_000012.12:g.50092236_50092257T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.50092257dup, NC_000012.12:g.50092256_50092257dup, NC_000012.12:g.50092255_50092257dup, NC_000012.12:g.50092254_50092257dup, NC_000012.12:g.50092253_50092257dup, NC_000012.12:g.50092252_50092257dup, NC_000012.12:g.50092251_50092257dup, NC_000012.12:g.50092250_50092257dup, NC_000012.12:g.50092249_50092257dup, NC_000012.12:g.50092248_50092257dup, NC_000012.12:g.50092247_50092257dup, NC_000012.12:g.50092246_50092257dup, NC_000012.12:g.50092245_50092257dup, NC_000012.12:g.50092244_50092257dup, NC_000012.12:g.50092243_50092257dup, NC_000012.12:g.50092242_50092257dup, NC_000012.12:g.50092241_50092257dup, NC_000012.12:g.50092240_50092257dup, NC_000012.12:g.50092239_50092257dup, NC_000012.12:g.50092238_50092257dup, NC_000012.12:g.50092237_50092257dup, NC_000012.12:g.50092236_50092257dup, NC_000012.12:g.50092257_50092258insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50092257_50092258insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50092257_50092258insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50092257_50092258insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50092257_50092258insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50092257_50092258insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50092257_50092258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50092257_50092258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50092257_50092258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50486027_50486040del, NC_000012.11:g.50486028_50486040del, NC_000012.11:g.50486029_50486040del, NC_000012.11:g.50486030_50486040del, NC_000012.11:g.50486031_50486040del, NC_000012.11:g.50486032_50486040del, NC_000012.11:g.50486033_50486040del, NC_000012.11:g.50486034_50486040del, NC_000012.11:g.50486035_50486040del, NC_000012.11:g.50486036_50486040del, NC_000012.11:g.50486037_50486040del, NC_000012.11:g.50486038_50486040del, NC_000012.11:g.50486039_50486040del, NC_000012.11:g.50486040del, NC_000012.11:g.50486019_50486040T[22]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.50486040dup, NC_000012.11:g.50486039_50486040dup, NC_000012.11:g.50486038_50486040dup, NC_000012.11:g.50486037_50486040dup, NC_000012.11:g.50486036_50486040dup, NC_000012.11:g.50486035_50486040dup, NC_000012.11:g.50486034_50486040dup, NC_000012.11:g.50486033_50486040dup, NC_000012.11:g.50486032_50486040dup, NC_000012.11:g.50486031_50486040dup, NC_000012.11:g.50486030_50486040dup, NC_000012.11:g.50486029_50486040dup, NC_000012.11:g.50486028_50486040dup, NC_000012.11:g.50486027_50486040dup, NC_000012.11:g.50486026_50486040dup, NC_000012.11:g.50486025_50486040dup, NC_000012.11:g.50486024_50486040dup, NC_000012.11:g.50486023_50486040dup, NC_000012.11:g.50486022_50486040dup, NC_000012.11:g.50486021_50486040dup, NC_000012.11:g.50486020_50486040dup, NC_000012.11:g.50486019_50486040dup, NC_000012.11:g.50486040_50486041insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50486040_50486041insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50486040_50486041insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50486040_50486041insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50486040_50486041insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50486040_50486041insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50486040_50486041insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50486040_50486041insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50486040_50486041insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491105579 has merged into rs11443542 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:50090832
(GRCh38)
12:50484615
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.05/2
(GENOME_DK)
- HGVS:
NC_000012.12:g.50090832_50090841del, NC_000012.12:g.50090833_50090841del, NC_000012.12:g.50090834_50090841del, NC_000012.12:g.50090835_50090841del, NC_000012.12:g.50090836_50090841del, NC_000012.12:g.50090838_50090841del, NC_000012.12:g.50090839_50090841del, NC_000012.12:g.50090840_50090841del, NC_000012.12:g.50090841del, NC_000012.12:g.50090841dup, NC_000012.12:g.50090840_50090841dup, NC_000012.12:g.50090839_50090841dup, NC_000012.12:g.50090838_50090841dup, NC_000012.12:g.50090837_50090841dup, NC_000012.12:g.50090836_50090841dup, NC_000012.12:g.50090835_50090841dup, NC_000012.12:g.50090834_50090841dup, NC_000012.12:g.50090833_50090841dup, NC_000012.12:g.50090832_50090841dup, NC_000012.12:g.50090831_50090841dup, NC_000012.12:g.50090830_50090841dup, NC_000012.12:g.50090827_50090841dup, NC_000012.12:g.50090826_50090841dup, NC_000012.12:g.50090823_50090841dup, NC_000012.12:g.50090822_50090841dup, NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50484615_50484624del, NC_000012.11:g.50484616_50484624del, NC_000012.11:g.50484617_50484624del, NC_000012.11:g.50484618_50484624del, NC_000012.11:g.50484619_50484624del, NC_000012.11:g.50484621_50484624del, NC_000012.11:g.50484622_50484624del, NC_000012.11:g.50484623_50484624del, NC_000012.11:g.50484624del, NC_000012.11:g.50484624dup, NC_000012.11:g.50484623_50484624dup, NC_000012.11:g.50484622_50484624dup, NC_000012.11:g.50484621_50484624dup, NC_000012.11:g.50484620_50484624dup, NC_000012.11:g.50484619_50484624dup, NC_000012.11:g.50484618_50484624dup, NC_000012.11:g.50484617_50484624dup, NC_000012.11:g.50484616_50484624dup, NC_000012.11:g.50484615_50484624dup, NC_000012.11:g.50484614_50484624dup, NC_000012.11:g.50484613_50484624dup, NC_000012.11:g.50484610_50484624dup, NC_000012.11:g.50484609_50484624dup, NC_000012.11:g.50484606_50484624dup, NC_000012.11:g.50484605_50484624dup, NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491083348 has merged into rs67852003 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:50101171
(GRCh38)
12:50494954
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50101165:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.50101171_50101184del, NC_000012.12:g.50101175_50101184del, NC_000012.12:g.50101177_50101184del, NC_000012.12:g.50101178_50101184del, NC_000012.12:g.50101179_50101184del, NC_000012.12:g.50101180_50101184del, NC_000012.12:g.50101181_50101184del, NC_000012.12:g.50101182_50101184del, NC_000012.12:g.50101183_50101184del, NC_000012.12:g.50101184del, NC_000012.12:g.50101184dup, NC_000012.12:g.50101183_50101184dup, NC_000012.12:g.50101182_50101184dup, NC_000012.12:g.50101180_50101184dup, NC_000012.11:g.50494954_50494967del, NC_000012.11:g.50494958_50494967del, NC_000012.11:g.50494960_50494967del, NC_000012.11:g.50494961_50494967del, NC_000012.11:g.50494962_50494967del, NC_000012.11:g.50494963_50494967del, NC_000012.11:g.50494964_50494967del, NC_000012.11:g.50494965_50494967del, NC_000012.11:g.50494966_50494967del, NC_000012.11:g.50494967del, NC_000012.11:g.50494967dup, NC_000012.11:g.50494966_50494967dup, NC_000012.11:g.50494965_50494967dup, NC_000012.11:g.50494963_50494967dup, NG_032168.1:g.2353_2366del, NG_032168.1:g.2357_2366del, NG_032168.1:g.2359_2366del, NG_032168.1:g.2360_2366del, NG_032168.1:g.2361_2366del, NG_032168.1:g.2362_2366del, NG_032168.1:g.2363_2366del, NG_032168.1:g.2364_2366del, NG_032168.1:g.2365_2366del, NG_032168.1:g.2366del, NG_032168.1:g.2366dup, NG_032168.1:g.2365_2366dup, NG_032168.1:g.2364_2366dup, NG_032168.1:g.2362_2366dup
6.
rs1490948020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:50093241
(GRCh38)
12:50487024
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50093240:T:C
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489997513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:50094617
(GRCh38)
12:50488400
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50094616:C:T
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1489879674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:50091076
(GRCh38)
12:50484859
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50091075:T:C
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489868917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:50101025
(GRCh38)
12:50494808
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50101024:G:A,NC_000012.12:50101024:G:C
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489788433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:50094505
(GRCh38)
12:50488288
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50094504:A:G
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000012.12:g.50094505A>G, NC_000012.11:g.50488288A>G, NM_003076.5:c.1202A>G, NM_003076.4:c.1202A>G, XM_005269107.5:c.1079A>G, XM_005269107.4:c.1079A>G, XM_005269107.3:c.1079A>G, XM_005269107.2:c.1451A>G, XM_005269107.1:c.1451A>G, NM_139071.3:c.1202A>G, NM_139071.2:c.1202A>G, XR_944683.3:n.1230A>G, XR_944683.2:n.1336A>G, XR_944683.1:n.1372A>G, XR_944684.3:n.1230A>G, XR_944684.2:n.1336A>G, XR_944684.1:n.1372A>G, XM_047429450.1:c.1079A>G, XR_007063118.1:n.1107A>G, XR_007063120.1:n.1230A>G, XR_007063119.1:n.1107A>G, XR_007063121.1:n.1107A>G, NP_003067.3:p.Lys401Arg, XP_005269164.2:p.Lys360Arg, NP_620710.2:p.Lys401Arg, XP_047285406.1:p.Lys360Arg
11.
rs1489472405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:50096010
(GRCh38)
12:50489793
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50096009:G:A
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1489025538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:50088115
(GRCh38)
12:50481898
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50088114:G:A
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1488841143 has merged into rs1243131491 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTT>-,CTTTCTTT
[Show Flanks]
- Chromosome:
- 12:50092235
(GRCh38)
12:50486018
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50092223:TTTCTTTCTTTCTTT:TTTCTTTCTTT,NC_000012.12:50092223:TTTCTTTCTTTCTTT:TTTCTTTCTTTCTTTCTTT
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTCTTTCTTTCTTTCTTT=0./0
(
ALFA)
TTTC=0.00094/6
(1000Genomes)
TTTC=0.00772/129
(TOMMO)
- HGVS:
14.
rs1488677668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:50092911
(GRCh38)
12:50486694
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50092910:C:T
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
15.
rs1488660955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:50085120
(GRCh38)
12:50478903
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50085119:C:A,NC_000012.12:50085119:C:T
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
T=0.000248/4
(TOMMO)
- HGVS:
16.
rs1488607855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:50099458
(GRCh38)
12:50493241
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50099457:G:C
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.50099458G>C, NC_000012.11:g.50493241G>C, NG_032168.1:g.640G>C, NM_003076.5:c.*458G>C, NM_003076.4:c.*458G>C, XM_005269107.5:c.*458G>C, XM_005269107.4:c.*458G>C, XM_005269107.3:c.*458G>C, XM_005269107.2:c.*458G>C, XM_005269107.1:c.*458G>C, NM_139071.3:c.*458G>C, NM_139071.2:c.*458G>C, XR_944683.3:n.2034G>C, XR_944683.2:n.2140G>C, XR_944683.1:n.2176G>C, XR_944684.3:n.2034G>C, XR_944684.2:n.2140G>C, XR_944684.1:n.2176G>C, XM_047429450.1:c.*458G>C, XR_007063118.1:n.1911G>C, XR_007063120.1:n.1911G>C, XR_007063119.1:n.1911G>C, XR_007063121.1:n.1788G>C
17.
rs1488400064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:50096545
(GRCh38)
12:50490328
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50096544:A:G
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1488197660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:50091357
(GRCh38)
12:50485140
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50091356:C:T
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1488091094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:50091106
(GRCh38)
12:50484889
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50091105:T:C
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488068648 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:50097645
(GRCh38)
12:50491428
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50097644:A:
- Gene:
- SMARCD1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS: