SNP Links for Gene (Select 50485) - SNP

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Select item 14915693091.

rs1491569309 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:216444405 (GRCh38)
2:217309128 (GRCh37)
Canonical SPDI:: NC_000002.12:216444401:AGAGA:AGA
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.216444403GA[1], NC_000002.11:g.217309126GA[1], NG_009771.1:g.36990GA[1]

Select item 14915335922.

rs1491533592 has merged into rs3836031 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: 2:216439333 (GRCh38)
2:217304056 (GRCh37)
Canonical SPDI:: NC_000002.12:216439324:GGGGGGGGGGG:GGGGGGGG,NC_000002.12:216439324:GGGGGGGGGGG:GGGGGGGGG,NC_000002.12:216439324:GGGGGGGGGGG:GGGGGGGGGG,NC_000002.12:216439324:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000002.12:216439324:GGGGGGGGGGG:GGGGGGGGGGGGG
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGG=0./0 (ALFA)
-=0.2528/1266 (1000Genomes)
HGVS:: NC_000002.12:g.216439333_216439335del, NC_000002.12:g.216439334_216439335del, NC_000002.12:g.216439335del, NC_000002.12:g.216439335dup, NC_000002.12:g.216439334_216439335dup, NC_000002.11:g.217304056_217304058del, NC_000002.11:g.217304057_217304058del, NC_000002.11:g.217304058del, NC_000002.11:g.217304058dup, NC_000002.11:g.217304057_217304058dup, NG_009771.1:g.31920_31922del, NG_009771.1:g.31921_31922del, NG_009771.1:g.31922del, NG_009771.1:g.31922dup, NG_009771.1:g.31921_31922dup

Select item 14915187423.

rs1491518742 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:216464710 (GRCh38)
2:217329434 (GRCh37)
Canonical SPDI:: NC_000002.12:216464710::C
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.216464710_216464711insC, NC_000002.11:g.217329433_217329434insC, NG_009771.1:g.57297_57298insC

Select item 14915179264.

rs1491517926 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GA
Chromosome:: no mapping
Canonical SPDI:

Select item 14913877125.

rs1491387712 has merged into rs59117931 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:216411401 (GRCh38)
2:217276124 (GRCh37)
Canonical SPDI:: NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:216411392:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMARCAL1 (Varview), SMARCAL1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.216411401_216411427del, NC_000002.12:g.216411402_216411427del, NC_000002.12:g.216411404_216411427del, NC_000002.12:g.216411405_216411427del, NC_000002.12:g.216411406_216411427del, NC_000002.12:g.216411407_216411427del, NC_000002.12:g.216411408_216411427del, NC_000002.12:g.216411409_216411427del, NC_000002.12:g.216411410_216411427del, NC_000002.12:g.216411411_216411427del, NC_000002.12:g.216411412_216411427del, NC_000002.12:g.216411413_216411427del, NC_000002.12:g.216411414_216411427del, NC_000002.12:g.216411415_216411427del, NC_000002.12:g.216411416_216411427del, NC_000002.12:g.216411417_216411427del, NC_000002.12:g.216411418_216411427del, NC_000002.12:g.216411419_216411427del, NC_000002.12:g.216411420_216411427del, NC_000002.12:g.216411421_216411427del, NC_000002.12:g.216411422_216411427del, NC_000002.12:g.216411423_216411427del, NC_000002.12:g.216411424_216411427del, NC_000002.12:g.216411425_216411427del, NC_000002.12:g.216411426_216411427del, NC_000002.12:g.216411427del, NC_000002.12:g.216411427dup, NC_000002.12:g.216411426_216411427dup, NC_000002.12:g.216411425_216411427dup, NC_000002.12:g.216411424_216411427dup, NC_000002.12:g.216411423_216411427dup, NC_000002.12:g.216411422_216411427dup, NC_000002.12:g.216411421_216411427dup, NC_000002.12:g.216411420_216411427dup, NC_000002.12:g.216411417_216411427dup, NC_000002.12:g.216411416_216411427dup, NC_000002.12:g.216411415_216411427dup, NC_000002.12:g.216411414_216411427dup, NC_000002.12:g.216411413_216411427dup, NC_000002.12:g.216411412_216411427dup, NC_000002.12:g.216411411_216411427dup, NC_000002.12:g.216411410_216411427dup, NC_000002.12:g.216411409_216411427dup, NC_000002.12:g.216411408_216411427dup, NC_000002.12:g.216411407_216411427dup, NC_000002.12:g.216411406_216411427dup, NC_000002.12:g.216411403_216411427dup, NC_000002.12:g.216411402_216411427dup, NC_000002.12:g.216411399_216411427dup, NC_000002.12:g.216411398_216411427dup, NC_000002.12:g.216411397_216411427dup, NC_000002.12:g.216411396_216411427dup, NC_000002.12:g.216411395_216411427dup, NC_000002.12:g.216411394_216411427dup, NC_000002.12:g.216411393_216411427dup, NC_000002.12:g.216411427_216411428insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.216411427_216411428insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.216411427_216411428insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.216411427_216411428insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.216411427_216411428insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.216411427_216411428insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.217276124_217276150del, NC_000002.11:g.217276125_217276150del, NC_000002.11:g.217276127_217276150del, NC_000002.11:g.217276128_217276150del, NC_000002.11:g.217276129_217276150del, NC_000002.11:g.217276130_217276150del, NC_000002.11:g.217276131_217276150del, NC_000002.11:g.217276132_217276150del, NC_000002.11:g.217276133_217276150del, NC_000002.11:g.217276134_217276150del, NC_000002.11:g.217276135_217276150del, NC_000002.11:g.217276136_217276150del, NC_000002.11:g.217276137_217276150del, NC_000002.11:g.217276138_217276150del, NC_000002.11:g.217276139_217276150del, NC_000002.11:g.217276140_217276150del, NC_000002.11:g.217276141_217276150del, NC_000002.11:g.217276142_217276150del, NC_000002.11:g.217276143_217276150del, NC_000002.11:g.217276144_217276150del, NC_000002.11:g.217276145_217276150del, NC_000002.11:g.217276146_217276150del, NC_000002.11:g.217276147_217276150del, NC_000002.11:g.217276148_217276150del, NC_000002.11:g.217276149_217276150del, NC_000002.11:g.217276150del, NC_000002.11:g.217276150dup, NC_000002.11:g.217276149_217276150dup, NC_000002.11:g.217276148_217276150dup, NC_000002.11:g.217276147_217276150dup, NC_000002.11:g.217276146_217276150dup, NC_000002.11:g.217276145_217276150dup, NC_000002.11:g.217276144_217276150dup, NC_000002.11:g.217276143_217276150dup, NC_000002.11:g.217276140_217276150dup, NC_000002.11:g.217276139_217276150dup, NC_000002.11:g.217276138_217276150dup, NC_000002.11:g.217276137_217276150dup, NC_000002.11:g.217276136_217276150dup, NC_000002.11:g.217276135_217276150dup, NC_000002.11:g.217276134_217276150dup, NC_000002.11:g.217276133_217276150dup, NC_000002.11:g.217276132_217276150dup, NC_000002.11:g.217276131_217276150dup, NC_000002.11:g.217276130_217276150dup, NC_000002.11:g.217276129_217276150dup, NC_000002.11:g.217276126_217276150dup, NC_000002.11:g.217276125_217276150dup, NC_000002.11:g.217276122_217276150dup, NC_000002.11:g.217276121_217276150dup, NC_000002.11:g.217276120_217276150dup, NC_000002.11:g.217276119_217276150dup, NC_000002.11:g.217276118_217276150dup, NC_000002.11:g.217276117_217276150dup, NC_000002.11:g.217276116_217276150dup, NC_000002.11:g.217276150_217276151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.217276150_217276151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.217276150_217276151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.217276150_217276151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.217276150_217276151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.217276150_217276151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009771.1:g.3988_4014del, NG_009771.1:g.3989_4014del, NG_009771.1:g.3991_4014del, NG_009771.1:g.3992_4014del, NG_009771.1:g.3993_4014del, NG_009771.1:g.3994_4014del, NG_009771.1:g.3995_4014del, NG_009771.1:g.3996_4014del, NG_009771.1:g.3997_4014del, NG_009771.1:g.3998_4014del, NG_009771.1:g.3999_4014del, NG_009771.1:g.4000_4014del, NG_009771.1:g.4001_4014del, NG_009771.1:g.4002_4014del, NG_009771.1:g.4003_4014del, NG_009771.1:g.4004_4014del, NG_009771.1:g.4005_4014del, NG_009771.1:g.4006_4014del, NG_009771.1:g.4007_4014del, NG_009771.1:g.4008_4014del, NG_009771.1:g.4009_4014del, NG_009771.1:g.4010_4014del, NG_009771.1:g.4011_4014del, NG_009771.1:g.4012_4014del, NG_009771.1:g.4013_4014del, NG_009771.1:g.4014del, NG_009771.1:g.4014dup, NG_009771.1:g.4013_4014dup, NG_009771.1:g.4012_4014dup, NG_009771.1:g.4011_4014dup, NG_009771.1:g.4010_4014dup, NG_009771.1:g.4009_4014dup, NG_009771.1:g.4008_4014dup, NG_009771.1:g.4007_4014dup, NG_009771.1:g.4004_4014dup, NG_009771.1:g.4003_4014dup, NG_009771.1:g.4002_4014dup, NG_009771.1:g.4001_4014dup, NG_009771.1:g.4000_4014dup, NG_009771.1:g.3999_4014dup, NG_009771.1:g.3998_4014dup, NG_009771.1:g.3997_4014dup, NG_009771.1:g.3996_4014dup, NG_009771.1:g.3995_4014dup, NG_009771.1:g.3994_4014dup, NG_009771.1:g.3993_4014dup, NG_009771.1:g.3990_4014dup, NG_009771.1:g.3989_4014dup, NG_009771.1:g.3986_4014dup, NG_009771.1:g.3985_4014dup, NG_009771.1:g.3984_4014dup, NG_009771.1:g.3983_4014dup, NG_009771.1:g.3982_4014dup, NG_009771.1:g.3981_4014dup, NG_009771.1:g.3980_4014dup, NG_009771.1:g.4014_4015insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009771.1:g.4014_4015insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009771.1:g.4014_4015insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009771.1:g.4014_4015insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009771.1:g.4014_4015insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009771.1:g.4014_4015insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913361496.

rs1491336149 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:216440048 (GRCh38)
2:217304772 (GRCh37)
Canonical SPDI:: NC_000002.12:216440048:G:GG
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.216440049dup, NC_000002.11:g.217304772dup, NG_009771.1:g.32636dup

Select item 14912212967.

rs1491221296 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:216413866 (GRCh38)
2:217278589 (GRCh37)
Canonical SPDI:: NC_000002.12:216413864:AGA:A
Gene:: SMARCAL1 (Varview), SMARCAL1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.216413866_216413867del, NC_000002.11:g.217278589_217278590del, NG_009771.1:g.6453_6454del, NM_014140.4:c.-85_-84del, NM_014140.3:c.-85_-84del, NM_001127207.2:c.-85_-84del, NM_001127207.1:c.-85_-84del

Select item 14911875168.

rs1491187516 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:216444402 (GRCh38)
2:217309126 (GRCh37)
Canonical SPDI:: NC_000002.12:216444402:G:GG
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.216444403dup, NC_000002.11:g.217309126dup, NG_009771.1:g.36990dup

Select item 14910589229.

rs1491058922 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:216464708 (GRCh38)
2:217329431 (GRCh37)
Canonical SPDI:: NC_000002.12:216464707:TC:
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.216464708_216464709del, NC_000002.11:g.217329431_217329432del, NG_009771.1:g.57295_57296del

Select item 149105221210.

rs1491052212 has merged into rs3214962 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC [Show Flanks]
Chromosome:: 2:216416434 (GRCh38)
2:217281157 (GRCh37)
Canonical SPDI:: NC_000002.12:216416427:CCCCCCCC:CCCCCC,NC_000002.12:216416427:CCCCCCCC:CCCCCCC,NC_000002.12:216416427:CCCCCCCC:CCCCCCCCC
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
C=0.20778/3482 (TOMMO)
C=0.2309/423 (Korea1K)
C=0.23876/1195 (1000Genomes)
C=0.32656/1463 (Estonian)
C=0.345/207 (NorthernSweden)
C=0.35/14 (GENOME_DK)
C=0.35371/353 (GoNL)
C=0.35807/1380 (ALSPAC)
C=0.36192/1342 (TWINSUK)
HGVS:: NC_000002.12:g.216416434_216416435del, NC_000002.12:g.216416435del, NC_000002.12:g.216416435dup, NC_000002.11:g.217281157_217281158del, NC_000002.11:g.217281158del, NC_000002.11:g.217281158dup, NG_009771.1:g.9021_9022del, NG_009771.1:g.9022del, NG_009771.1:g.9022dup

Select item 149100452911.

rs1491004529 has merged into rs11408208 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:216434861 (GRCh38)
2:217299584 (GRCh37)
Canonical SPDI:: NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:216434851:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.391/1958 (1000Genomes)
HGVS:: NC_000002.12:g.216434861_216434871del, NC_000002.12:g.216434863_216434871del, NC_000002.12:g.216434864_216434871del, NC_000002.12:g.216434865_216434871del, NC_000002.12:g.216434866_216434871del, NC_000002.12:g.216434867_216434871del, NC_000002.12:g.216434868_216434871del, NC_000002.12:g.216434869_216434871del, NC_000002.12:g.216434870_216434871del, NC_000002.12:g.216434871del, NC_000002.12:g.216434871dup, NC_000002.12:g.216434870_216434871dup, NC_000002.12:g.216434869_216434871dup, NC_000002.12:g.216434868_216434871dup, NC_000002.12:g.216434867_216434871dup, NC_000002.12:g.216434866_216434871dup, NC_000002.11:g.217299584_217299594del, NC_000002.11:g.217299586_217299594del, NC_000002.11:g.217299587_217299594del, NC_000002.11:g.217299588_217299594del, NC_000002.11:g.217299589_217299594del, NC_000002.11:g.217299590_217299594del, NC_000002.11:g.217299591_217299594del, NC_000002.11:g.217299592_217299594del, NC_000002.11:g.217299593_217299594del, NC_000002.11:g.217299594del, NC_000002.11:g.217299594dup, NC_000002.11:g.217299593_217299594dup, NC_000002.11:g.217299592_217299594dup, NC_000002.11:g.217299591_217299594dup, NC_000002.11:g.217299590_217299594dup, NC_000002.11:g.217299589_217299594dup, NG_009771.1:g.27448_27458del, NG_009771.1:g.27450_27458del, NG_009771.1:g.27451_27458del, NG_009771.1:g.27452_27458del, NG_009771.1:g.27453_27458del, NG_009771.1:g.27454_27458del, NG_009771.1:g.27455_27458del, NG_009771.1:g.27456_27458del, NG_009771.1:g.27457_27458del, NG_009771.1:g.27458del, NG_009771.1:g.27458dup, NG_009771.1:g.27457_27458dup, NG_009771.1:g.27456_27458dup, NG_009771.1:g.27455_27458dup, NG_009771.1:g.27454_27458dup, NG_009771.1:g.27453_27458dup

Select item 149098023912.

rs1490980239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:216430388 (GRCh38)
2:217295111 (GRCh37)
Canonical SPDI:: NC_000002.12:216430387:C:A
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.216430388C>A, NC_000002.11:g.217295111C>A, NG_009771.1:g.22975C>A

Select item 149096051613.

rs1490960516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:216410831 (GRCh38)
2:217275554 (GRCh37)
Canonical SPDI:: NC_000002.12:216410830:G:A
Gene:: SMARCAL1 (Varview), SMARCAL1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.216410831G>A, NC_000002.11:g.217275554G>A, NG_009771.1:g.3418G>A

Select item 149092705214.

rs1490927052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:216447182 (GRCh38)
2:217311905 (GRCh37)
Canonical SPDI:: NC_000002.12:216447181:A:C
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.03667/435 (ALFA)
C=0.00764/14 (Korea1K)
C=0.01167/34 (KOREAN)
HGVS:: NC_000002.12:g.216447182A>C, NC_000002.11:g.217311905A>C, NG_009771.1:g.39769A>C

Select item 149089834415.

rs1490898344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:216471492 (GRCh38)
2:217336215 (GRCh37)
Canonical SPDI:: NC_000002.12:216471491:T:C
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.216471492T>C, NC_000002.11:g.217336215T>C, NG_009771.1:g.64079T>C

Select item 149086597916.

rs1490865979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:216414378 (GRCh38)
2:217279101 (GRCh37)
Canonical SPDI:: NC_000002.12:216414377:A:C
Gene:: SMARCAL1 (Varview), SMARCAL1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.216414378A>C, NC_000002.11:g.217279101A>C, NG_009771.1:g.6965A>C

Select item 149083792617.

rs1490837926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:216470985 (GRCh38)
2:217335708 (GRCh37)
Canonical SPDI:: NC_000002.12:216470984:G:C
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.216470985G>C, NC_000002.11:g.217335708G>C, NG_009771.1:g.63572G>C

Select item 149083101318.

rs1490831013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:216479031 (GRCh38)
2:217343754 (GRCh37)
Canonical SPDI:: NC_000002.12:216479030:A:C
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.216479031A>C, NC_000002.11:g.217343754A>C, NG_009771.1:g.71618A>C

Select item 149066943319.

rs1490669433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:216455710 (GRCh38)
2:217320433 (GRCh37)
Canonical SPDI:: NC_000002.12:216455709:C:T
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.216455710C>T, NC_000002.11:g.217320433C>T, NG_009771.1:g.48297C>T

Select item 149065445020.

rs1490654450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:216456719 (GRCh38)
2:217321442 (GRCh37)
Canonical SPDI:: NC_000002.12:216456718:A:G
Gene:: SMARCAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.216456719A>G, NC_000002.11:g.217321442A>G, NG_009771.1:g.49306A>G

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