SNP Links for Gene (Select 101929210) - SNP

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Select item 14915794791.

rs1491579479 has merged into rs200387877 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAACTAATAAAAATAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAACAAAACAAAATGAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAGAAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAACTAAAAAAAATGGAGAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAGAAAAACAAAAAAAAATGGAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAGTAAAAAGAAAAAAAGGGAATAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGGGAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAACAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAACAAAAGAAAAACAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:94143913 (GRCh38)
4:95065064 (GRCh37)
Canonical SPDI:: NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACTAATAAAAATAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAAAACAAAATGAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAGAAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACTAAAAAAAATGGAGAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAGAAAAACAAAAAAAAATGGAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAGTAAAAAGAAAAAAAGGGAATAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGGGAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAACAAAAGAAAAACAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94143904:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.94143913_94143921del, NC_000004.12:g.94143915_94143921del, NC_000004.12:g.94143917_94143921del, NC_000004.12:g.94143918_94143921del, NC_000004.12:g.94143919_94143921del, NC_000004.12:g.94143920_94143921del, NC_000004.12:g.94143921del, NC_000004.12:g.94143921dup, NC_000004.12:g.94143920_94143921dup, NC_000004.12:g.94143912_94143921dup, NC_000004.12:g.94143911_94143921dup, NC_000004.12:g.94143908_94143921dup, NC_000004.12:g.94143907_94143921dup, NC_000004.12:g.94143906_94143921dup, NC_000004.12:g.94143921_94143922insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.94143921_94143922insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.94143921_94143922insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.94143921_94143922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.94143921_94143922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.94143921_94143922insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.94143905_94143921A[48]GGAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[47]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[36]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[30]GAAAAACTAATAAAAATAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[29]GAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[29]GAAAAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[29]GAAAAACAAAACAAAATGAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[28]GAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[28]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[28]TAAAAGAAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[27]GAAAAACTAAAAAAAATGGAGAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[25]GAAAAAAGAAAAACAAAAAAAAATGGAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[24]GAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[24]GAAAAGTAAAAAGAAAAAAAGGGAATAAGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[24]GGGAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[22]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[19]CAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[19]CAAAAGAAAAACAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.12:g.94143905_94143921A[17]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065064_95065072del, NC_000004.11:g.95065066_95065072del, NC_000004.11:g.95065068_95065072del, NC_000004.11:g.95065069_95065072del, NC_000004.11:g.95065070_95065072del, NC_000004.11:g.95065071_95065072del, NC_000004.11:g.95065072del, NC_000004.11:g.95065072dup, NC_000004.11:g.95065071_95065072dup, NC_000004.11:g.95065063_95065072dup, NC_000004.11:g.95065062_95065072dup, NC_000004.11:g.95065059_95065072dup, NC_000004.11:g.95065058_95065072dup, NC_000004.11:g.95065057_95065072dup, NC_000004.11:g.95065072_95065073insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.95065072_95065073insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.95065072_95065073insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.95065072_95065073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.95065072_95065073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.95065072_95065073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.95065056_95065072A[48]GGAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[47]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[36]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[30]GAAAAACTAATAAAAATAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[29]GAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[29]GAAAAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[29]GAAAAACAAAACAAAATGAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[28]GAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[28]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[28]TAAAAGAAAAAAAAAAAAAAATGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[27]GAAAAACTAAAAAAAATGGAGAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[25]GAAAAAAGAAAAACAAAAAAAAATGGAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[24]GAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[24]GAAAAGTAAAAAGAAAAAAAGGGAATAAGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[24]GGGAAAAAAAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[22]GAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[19]CAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[19]CAAAAGAAAAACAAAAAAAAAAGGAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.95065056_95065072A[17]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915654592.

rs1491565459 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 4:94160388 (GRCh38)
4:95081540 (GRCh37)
Canonical SPDI:: NC_000004.12:94160388::TG
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
TG=0.000075/8 (GnomAD)
HGVS:: NC_000004.12:g.94160388_94160389insTG, NC_000004.11:g.95081539_95081540insTG

Select item 14915531423.

rs1491553142 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TC [Show Flanks]
Chromosome:: 4:94133137 (GRCh38)
4:95054289 (GRCh37)
Canonical SPDI:: NC_000004.12:94133137::T,NC_000004.12:94133137::TC
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.94133137_94133138insT, NC_000004.12:g.94133137_94133138insTC, NC_000004.11:g.95054288_95054289insT, NC_000004.11:g.95054288_95054289insTC

Select item 14915483714.

rs1491548371 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:94133130 (GRCh38)
4:95054281 (GRCh37)
Canonical SPDI:: NC_000004.12:94133129:TG:
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000004.12:g.94133130_94133131del, NC_000004.11:g.95054281_95054282del

Select item 14915323205.

rs1491532320 has merged into rs34031852 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:94198446 (GRCh38)
4:95119597 (GRCh37)
Canonical SPDI:: NC_000004.12:94198431:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:94198431:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:94198431:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:94198431:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:94198431:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:94198431:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0.0004/3 (ALFA)
A=0.4351/2179 (1000Genomes)
-=0.4798/285 (NorthernSweden)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000004.12:g.94198446_94198448del, NC_000004.12:g.94198447_94198448del, NC_000004.12:g.94198448del, NC_000004.12:g.94198448dup, NC_000004.12:g.94198447_94198448dup, NC_000004.12:g.94198440_94198448dup, NC_000004.11:g.95119597_95119599del, NC_000004.11:g.95119598_95119599del, NC_000004.11:g.95119599del, NC_000004.11:g.95119599dup, NC_000004.11:g.95119598_95119599dup, NC_000004.11:g.95119591_95119599dup

Select item 14915306976.

rs1491530697 has merged into rs112515269 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: 4:94133140 (GRCh38)
4:95054291 (GRCh37)
Canonical SPDI:: NC_000004.12:94133130:GGGGGGGGGGGG:GGGGGGGGG,NC_000004.12:94133130:GGGGGGGGGGGG:GGGGGGGGGG,NC_000004.12:94133130:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000004.12:94133130:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000004.12:94133130:GGGGGGGGGGGG:GGGGGGGGGGGGGG
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0.0006/4 (ALFA)
-=0.021/81 (ALSPAC)
G=0.375/15 (GENOME_DK)
G=0.4299/2153 (1000Genomes)
HGVS:: NC_000004.12:g.94133140_94133142del, NC_000004.12:g.94133141_94133142del, NC_000004.12:g.94133142del, NC_000004.12:g.94133142dup, NC_000004.12:g.94133141_94133142dup, NC_000004.11:g.95054291_95054293del, NC_000004.11:g.95054292_95054293del, NC_000004.11:g.95054293del, NC_000004.11:g.95054293dup, NC_000004.11:g.95054292_95054293dup

Select item 14914857937.

rs1491485793 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:94160388 (GRCh38)
4:95081539 (GRCh37)
Canonical SPDI:: NC_000004.12:94160387:TG:
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.031951/379 (ALFA)
-=0.000177/3 (TOMMO)
-=0.045184/5517 (GnomAD)
HGVS:: NC_000004.12:g.94160388_94160389del, NC_000004.11:g.95081539_95081540del

Select item 14914820508.

rs1491482050 has merged into rs113091586 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 4:94158530 (GRCh38)
4:95079681 (GRCh37)
Canonical SPDI:: NC_000004.12:94158517:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:94158517:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:94158517:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:94158517:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:94158517:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:94158517:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:94158517:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0843/325 (ALSPAC)
A=0.4425/2216 (1000Genomes)
HGVS:: NC_000004.12:g.94158530_94158533del, NC_000004.12:g.94158531_94158533del, NC_000004.12:g.94158532_94158533del, NC_000004.12:g.94158533del, NC_000004.12:g.94158533dup, NC_000004.12:g.94158532_94158533dup, NC_000004.12:g.94158531_94158533dup, NC_000004.11:g.95079681_95079684del, NC_000004.11:g.95079682_95079684del, NC_000004.11:g.95079683_95079684del, NC_000004.11:g.95079684del, NC_000004.11:g.95079684dup, NC_000004.11:g.95079683_95079684dup, NC_000004.11:g.95079682_95079684dup

Select item 14914666849.

rs1491466684 has merged into rs201024485 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 4:94172176 (GRCh38)
4:95093327 (GRCh37)
Canonical SPDI:: NC_000004.12:94172163:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:94172163:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:94172163:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:94172163:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:94172163:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:94172163:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:94172163:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3584/1795 (1000Genomes)
HGVS:: NC_000004.12:g.94172176_94172180del, NC_000004.12:g.94172177_94172180del, NC_000004.12:g.94172178_94172180del, NC_000004.12:g.94172179_94172180del, NC_000004.12:g.94172180del, NC_000004.12:g.94172180dup, NC_000004.12:g.94172179_94172180dup, NC_000004.11:g.95093327_95093331del, NC_000004.11:g.95093328_95093331del, NC_000004.11:g.95093329_95093331del, NC_000004.11:g.95093330_95093331del, NC_000004.11:g.95093331del, NC_000004.11:g.95093331dup, NC_000004.11:g.95093330_95093331dup

Select item 149144097010.

rs1491440970 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 4:94158233 (GRCh38)
4:95079384 (GRCh37)
Canonical SPDI:: NC_000004.12:94158232:GC:
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.94158233_94158234del, NC_000004.11:g.95079384_95079385del

Select item 149138266411.

rs1491382664 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAA [Show Flanks]
Chromosome:: 4:94161285 (GRCh38)
4:95082437 (GRCh37)
Canonical SPDI:: NC_000004.12:94161285:A:ACAA
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.94161286_94161287insCAA, NC_000004.11:g.95082437_95082438insCAA

Select item 149134657512.

rs1491346575 has merged into rs1157734828 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:94128893 (GRCh38)
4:95050044 (GRCh37)
Canonical SPDI:: NC_000004.12:94128879:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:94128879:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:94128879:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:94128879:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:94128879:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:94128879:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94128879:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94128879:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94128879:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:94128879:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.94128893_94128899del, NC_000004.12:g.94128895_94128899del, NC_000004.12:g.94128897_94128899del, NC_000004.12:g.94128898_94128899del, NC_000004.12:g.94128899del, NC_000004.12:g.94128899dup, NC_000004.12:g.94128898_94128899dup, NC_000004.12:g.94128897_94128899dup, NC_000004.12:g.94128896_94128899dup, NC_000004.12:g.94128895_94128899dup, NC_000004.11:g.95050044_95050050del, NC_000004.11:g.95050046_95050050del, NC_000004.11:g.95050048_95050050del, NC_000004.11:g.95050049_95050050del, NC_000004.11:g.95050050del, NC_000004.11:g.95050050dup, NC_000004.11:g.95050049_95050050dup, NC_000004.11:g.95050048_95050050dup, NC_000004.11:g.95050047_95050050dup, NC_000004.11:g.95050046_95050050dup

Select item 149134120813.

rs1491341208 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:94198931 (GRCh38)
4:95120082 (GRCh37)
Canonical SPDI:: NC_000004.12:94198928:AGAG:AG
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.94198929AG[1], NC_000004.11:g.95120080AG[1]

Select item 149131674014.

rs1491316740 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:94128879 (GRCh38)
4:95050030 (GRCh37)
Canonical SPDI:: NC_000004.12:94128878:CA:
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.94128879_94128880del, NC_000004.11:g.95050030_95050031del

Select item 149131339115.

rs1491313391 has merged into rs770962455 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 4:94135512 (GRCh38)
4:95056663 (GRCh37)
Canonical SPDI:: NC_000004.12:94135500:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:94135500:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:94135500:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:94135500:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:94135500:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:94135500:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:94135500:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:94135500:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.1259/68 (NorthernSweden)
-=0.1642/633 (ALSPAC)
-=0.1723/639 (TWINSUK)
HGVS:: NC_000004.12:g.94135512_94135515del, NC_000004.12:g.94135513_94135515del, NC_000004.12:g.94135514_94135515del, NC_000004.12:g.94135515del, NC_000004.12:g.94135515dup, NC_000004.12:g.94135514_94135515dup, NC_000004.12:g.94135513_94135515dup, NC_000004.12:g.94135510_94135515dup, NC_000004.11:g.95056663_95056666del, NC_000004.11:g.95056664_95056666del, NC_000004.11:g.95056665_95056666del, NC_000004.11:g.95056666del, NC_000004.11:g.95056666dup, NC_000004.11:g.95056665_95056666dup, NC_000004.11:g.95056664_95056666dup, NC_000004.11:g.95056661_95056666dup

Select item 149130373516.

rs1491303735 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:94198929 (GRCh38)
4:95120081 (GRCh37)
Canonical SPDI:: NC_000004.12:94198929:G:GG
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.94198930dup, NC_000004.11:g.95120081dup

Select item 149127767617.

rs1491277676 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:94172163 (GRCh38)
4:95093314 (GRCh37)
Canonical SPDI:: NC_000004.12:94172162:CA:
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000004.12:g.94172163_94172164del, NC_000004.11:g.95093314_95093315del

Select item 149126115318.

rs1491261153 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 4:94203287 (GRCh38)
4:95124439 (GRCh37)
Canonical SPDI:: NC_000004.12:94203287:TT:TTCTT
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00126/15 (ALFA)
TTC=0.00254/178 (GnomAD)
HGVS:: NC_000004.12:g.94203289_94203290insCTT, NC_000004.11:g.95124440_95124441insCTT, NG_031945.1:g.682_683insCTT

Select item 149125559219.

rs1491255592 has merged into rs767178185 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 4:94160397 (GRCh38)
4:95081548 (GRCh37)
Canonical SPDI:: NC_000004.12:94160388:GGGGGGGGGGG:GGGGGGGG,NC_000004.12:94160388:GGGGGGGGGGG:GGGGGGGGG,NC_000004.12:94160388:GGGGGGGGGGG:GGGGGGGGGG,NC_000004.12:94160388:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000004.12:94160388:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000004.12:94160388:GGGGGGGGGGG:GGGGGGGGGGGGGG
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000004.12:g.94160397_94160399del, NC_000004.12:g.94160398_94160399del, NC_000004.12:g.94160399del, NC_000004.12:g.94160399dup, NC_000004.12:g.94160398_94160399dup, NC_000004.12:g.94160397_94160399dup, NC_000004.11:g.95081548_95081550del, NC_000004.11:g.95081549_95081550del, NC_000004.11:g.95081550del, NC_000004.11:g.95081550dup, NC_000004.11:g.95081549_95081550dup, NC_000004.11:g.95081548_95081550dup

Select item 149123399420.

rs1491233994 has merged into rs71684280 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 4:94160386 (GRCh38)
4:95081537 (GRCh37)
Canonical SPDI:: NC_000004.12:94160380:TTTTTTTT:TTTTT,NC_000004.12:94160380:TTTTTTTT:TTTTTT,NC_000004.12:94160380:TTTTTTTT:TTTTTTT,NC_000004.12:94160380:TTTTTTTT:TTTTTTTTT,NC_000004.12:94160380:TTTTTTTT:TTTTTTTTTT
Gene:: SMARCAD1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0.00157/18 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000004.12:g.94160386_94160388del, NC_000004.12:g.94160387_94160388del, NC_000004.12:g.94160388del, NC_000004.12:g.94160388dup, NC_000004.12:g.94160387_94160388dup, NC_000004.11:g.95081537_95081539del, NC_000004.11:g.95081538_95081539del, NC_000004.11:g.95081539del, NC_000004.11:g.95081539dup, NC_000004.11:g.95081538_95081539dup

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