SNP Links for Gene (Select 22937) - SNP

Links from Gene

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Select item 14915844821.

rs1491584482 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAAGTGAGAGGGGG,GGGGGGGGAGAGGGGG,GGGGGGGTGAGAGGGGG,GGGGGGTGAGAGGGGG,GGGGGGTGAGAGGGGGCGCGGGAGGGGGGTGAGAGGGGG,GGGGGTGAGAGGGGGCGGGGGGGGGTGAGAGGGG,GGGGTGTGAGAGGGGG,GGGTGGTGAGAGGGGG [Show Flanks]
Chromosome:: 3:47417889 (GRCh38)
3:47459380 (GRCh37)
Canonical SPDI:: NC_000003.12:47417889::G,NC_000003.12:47417889::GAAGTGAGAGGGGG,NC_000003.12:47417889::GGGGGGGGAGAGGGGG,NC_000003.12:47417889::GGGGGGGTGAGAGGGGG,NC_000003.12:47417889::GGGGGGTGAGAGGGGG,NC_000003.12:47417889::GGGGGGTGAGAGGGGGCGCGGGAGGGGGGTGAGAGGGGG,NC_000003.12:47417889::GGGGGTGAGAGGGGGCGGGGGGGGGTGAGAGGGG,NC_000003.12:47417889::GGGGTGTGAGAGGGGG,NC_000003.12:47417889::GGGTGGTGAGAGGGGG
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGTGAGAGGGGG=0./0 (ALFA)
GGGGGGTGAGAGGGGGCGCGGGAGGGGGGTGAGAGGGGG=0.00034/1 (GnomAD)
HGVS:: NC_000003.12:g.47417889_47417890insG, NC_000003.12:g.47417889_47417890insGAAGTGAGAGGGGG, NC_000003.12:g.47417889_47417890insGGGGGGGGAGAGGGGG, NC_000003.12:g.47417889_47417890insGGGGGGGTGAGAGGGGG, NC_000003.12:g.47417889_47417890insGGGGGGTGAGAGGGGG, NC_000003.12:g.47417889_47417890insGGGGGGTGAGAGGGGGCGCGGGAGGGGGGTGAGAGGGGG, NC_000003.12:g.47417889_47417890insGGGGGTGAGAGGGGGCGGGGGGGGGTGAGAGGGG, NC_000003.12:g.47417889_47417890insGGGGTGTGAGAGGGGG, NC_000003.12:g.47417889_47417890insGGGTGGTGAGAGGGGG, NC_000003.11:g.47459379_47459380insG, NC_000003.11:g.47459379_47459380insGAAGTGAGAGGGGG, NC_000003.11:g.47459379_47459380insGGGGGGGGAGAGGGGG, NC_000003.11:g.47459379_47459380insGGGGGGGTGAGAGGGGG, NC_000003.11:g.47459379_47459380insGGGGGGTGAGAGGGGG, NC_000003.11:g.47459379_47459380insGGGGGGTGAGAGGGGGCGCGGGAGGGGGGTGAGAGGGGG, NC_000003.11:g.47459379_47459380insGGGGGTGAGAGGGGGCGGGGGGGGGTGAGAGGGG, NC_000003.11:g.47459379_47459380insGGGGTGTGAGAGGGGG, NC_000003.11:g.47459379_47459380insGGGTGGTGAGAGGGGG

Select item 14915780112.

rs1491578011 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:47421479 (GRCh38)
3:47462969 (GRCh37)
Canonical SPDI:: NC_000003.12:47421478:AA:
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.47421479_47421480del, NC_000003.11:g.47462969_47462970del

Select item 14914873593.

rs1491487359 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:47465852 (GRCh38)
3:47507343 (GRCh37)
Canonical SPDI:: NC_000003.12:47465852::C
Gene:: SCAP (Varview), LOC124906372 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000253/3 (ALFA)
C=0.000122/17 (GnomAD)
HGVS:: NC_000003.12:g.47465852_47465853insC, NC_000003.11:g.47507342_47507343insC

Select item 14914804154.

rs1491480415 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 3:47455063 (GRCh38)
3:47496554 (GRCh37)
Canonical SPDI:: NC_000003.12:47455063:T:TTT
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
TT=0.00482/8 (GnomAD)
HGVS:: NC_000003.12:g.47455064_47455065insTT, NC_000003.11:g.47496554_47496555insTT

Select item 14914798715.

rs1491479871 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:47435464 (GRCh38)
3:47476955 (GRCh37)
Canonical SPDI:: NC_000003.12:47435464::T
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.47435464_47435465insT, NC_000003.11:g.47476954_47476955insT

Select item 14914657166.

rs1491465716 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:47432314 (GRCh38)
3:47473804 (GRCh37)
Canonical SPDI:: NC_000003.12:47432313:GA:
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00026/7 (GnomAD)
HGVS:: NC_000003.12:g.47432314_47432315del, NC_000003.11:g.47473804_47473805del

Select item 14912582187.

rs1491258218 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 3:47417889 (GRCh38)
3:47459379 (GRCh37)
Canonical SPDI:: NC_000003.12:47417888:AC:
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.47417889_47417890del, NC_000003.11:g.47459379_47459380del

Select item 14911726168.

rs1491172616 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:47435465 (GRCh38)
3:47476955 (GRCh37)
Canonical SPDI:: NC_000003.12:47435463:AAA:A
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00025/3 (ALFA)
-=0.00028/20 (GnomAD)
HGVS:: NC_000003.12:g.47435465_47435466del, NC_000003.11:g.47476955_47476956del

Select item 14911318469.

rs1491131846 has merged into rs147281523 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG,AGAGAG [Show Flanks]
Chromosome:: 3:47421490 (GRCh38)
3:47462980 (GRCh37)
Canonical SPDI:: NC_000003.12:47421479:AGAGAGAGAGAGAG:AGAGAGAGAG,NC_000003.12:47421479:AGAGAGAGAGAGAG:AGAGAGAGAGAG,NC_000003.12:47421479:AGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAG=0./0 (ALFA)
AG=0.000035/1 (TOMMO)
-=0.000057/15 (TOPMED)
-=0.002183/4 (Korea1K)
HGVS:: NC_000003.12:g.47421480AG[5], NC_000003.12:g.47421480AG[6], NC_000003.12:g.47421480AG[8], NC_000003.11:g.47462970AG[5], NC_000003.11:g.47462970AG[6], NC_000003.11:g.47462970AG[8]

Select item 149111958410.

rs1491119584 has merged into rs11308011 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:47432321 (GRCh38)
3:47473811 (GRCh37)
Canonical SPDI:: NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47432314:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.47/19 (GENOME_DK)
HGVS:: NC_000003.12:g.47432321_47432332del, NC_000003.12:g.47432323_47432332del, NC_000003.12:g.47432325_47432332del, NC_000003.12:g.47432326_47432332del, NC_000003.12:g.47432328_47432332del, NC_000003.12:g.47432329_47432332del, NC_000003.12:g.47432330_47432332del, NC_000003.12:g.47432331_47432332del, NC_000003.12:g.47432332del, NC_000003.12:g.47432332dup, NC_000003.12:g.47432331_47432332dup, NC_000003.12:g.47432329_47432332dup, NC_000003.12:g.47432328_47432332dup, NC_000003.12:g.47432327_47432332dup, NC_000003.12:g.47432326_47432332dup, NC_000003.12:g.47432323_47432332dup, NC_000003.12:g.47432322_47432332dup, NC_000003.12:g.47432321_47432332dup, NC_000003.11:g.47473811_47473822del, NC_000003.11:g.47473813_47473822del, NC_000003.11:g.47473815_47473822del, NC_000003.11:g.47473816_47473822del, NC_000003.11:g.47473818_47473822del, NC_000003.11:g.47473819_47473822del, NC_000003.11:g.47473820_47473822del, NC_000003.11:g.47473821_47473822del, NC_000003.11:g.47473822del, NC_000003.11:g.47473822dup, NC_000003.11:g.47473821_47473822dup, NC_000003.11:g.47473819_47473822dup, NC_000003.11:g.47473818_47473822dup, NC_000003.11:g.47473817_47473822dup, NC_000003.11:g.47473816_47473822dup, NC_000003.11:g.47473813_47473822dup, NC_000003.11:g.47473812_47473822dup, NC_000003.11:g.47473811_47473822dup

Select item 149104102811.

rs1491041028 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:47472485 (GRCh38)
3:47513976 (GRCh37)
Canonical SPDI:: NC_000003.12:47472485:AAA:AAAA
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.002685/12 (ALFA)
A=0.001093/7 (1000Genomes)
A=0.003779/438 (GnomAD)
A=0.031667/19 (NorthernSweden)
HGVS:: NC_000003.12:g.47472488dup, NC_000003.11:g.47513978dup

Select item 149102432012.

rs1491024320 has merged into rs34472664 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:47473087 (GRCh38)
3:47514577 (GRCh37)
Canonical SPDI:: NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:47473080:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SCAP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.0507/254 (1000Genomes)
HGVS:: NC_000003.12:g.47473087_47473099del, NC_000003.12:g.47473089_47473099del, NC_000003.12:g.47473092_47473099del, NC_000003.12:g.47473093_47473099del, NC_000003.12:g.47473094_47473099del, NC_000003.12:g.47473095_47473099del, NC_000003.12:g.47473096_47473099del, NC_000003.12:g.47473097_47473099del, NC_000003.12:g.47473098_47473099del, NC_000003.12:g.47473099del, NC_000003.12:g.47473099dup, NC_000003.12:g.47473098_47473099dup, NC_000003.12:g.47473097_47473099dup, NC_000003.12:g.47473096_47473099dup, NC_000003.12:g.47473095_47473099dup, NC_000003.12:g.47473094_47473099dup, NC_000003.12:g.47473093_47473099dup, NC_000003.12:g.47473092_47473099dup, NC_000003.12:g.47473091_47473099dup, NC_000003.12:g.47473090_47473099dup, NC_000003.12:g.47473089_47473099dup, NC_000003.12:g.47473088_47473099dup, NC_000003.12:g.47473087_47473099dup, NC_000003.12:g.47473086_47473099dup, NC_000003.12:g.47473085_47473099dup, NC_000003.12:g.47473084_47473099dup, NC_000003.12:g.47473083_47473099dup, NC_000003.12:g.47473082_47473099dup, NC_000003.12:g.47473081_47473099dup, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473099_47473100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.47473081_47473099A[25]CAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.47473081_47473099A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.47473081_47473099A[21]CAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.47473081_47473099A[21]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.47473081_47473099A[21]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.47473081_47473099A[20]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.47473081_47473099A[20]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.47514577_47514589del, NC_000003.11:g.47514579_47514589del, NC_000003.11:g.47514582_47514589del, NC_000003.11:g.47514583_47514589del, NC_000003.11:g.47514584_47514589del, NC_000003.11:g.47514585_47514589del, NC_000003.11:g.47514586_47514589del, NC_000003.11:g.47514587_47514589del, NC_000003.11:g.47514588_47514589del, NC_000003.11:g.47514589del, NC_000003.11:g.47514589dup, NC_000003.11:g.47514588_47514589dup, NC_000003.11:g.47514587_47514589dup, NC_000003.11:g.47514586_47514589dup, NC_000003.11:g.47514585_47514589dup, NC_000003.11:g.47514584_47514589dup, NC_000003.11:g.47514583_47514589dup, NC_000003.11:g.47514582_47514589dup, NC_000003.11:g.47514581_47514589dup, NC_000003.11:g.47514580_47514589dup, NC_000003.11:g.47514579_47514589dup, NC_000003.11:g.47514578_47514589dup, NC_000003.11:g.47514577_47514589dup, NC_000003.11:g.47514576_47514589dup, NC_000003.11:g.47514575_47514589dup, NC_000003.11:g.47514574_47514589dup, NC_000003.11:g.47514573_47514589dup, NC_000003.11:g.47514572_47514589dup, NC_000003.11:g.47514571_47514589dup, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514589_47514590insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.47514571_47514589A[25]CAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.47514571_47514589A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.47514571_47514589A[21]CAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.47514571_47514589A[21]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.47514571_47514589A[21]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.47514571_47514589A[20]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.47514571_47514589A[20]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149102102813.

rs1491021028 has merged into rs79594451 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 3:47465850 (GRCh38)
3:47507340 (GRCh37)
Canonical SPDI:: NC_000003.12:47465841:AAAAAAAAAAAA:AAAAAAAA,NC_000003.12:47465841:AAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:47465841:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:47465841:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:47465841:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:47465841:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: SCAP (Varview), LOC124906372 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.3227/1616 (1000Genomes)
HGVS:: NC_000003.12:g.47465850_47465853del, NC_000003.12:g.47465852_47465853del, NC_000003.12:g.47465853del, NC_000003.12:g.47465853dup, NC_000003.12:g.47465852_47465853dup, NC_000003.12:g.47465851_47465853dup, NC_000003.11:g.47507340_47507343del, NC_000003.11:g.47507342_47507343del, NC_000003.11:g.47507343del, NC_000003.11:g.47507343dup, NC_000003.11:g.47507342_47507343dup, NC_000003.11:g.47507341_47507343dup

Select item 149100133014.

rs1491001330 [Homo sapiens]

Variant type:: DEL
Alleles:: CCCC>- [Show Flanks]
Chromosome:: 3:47447018 (GRCh38)
3:47488508 (GRCh37)
Canonical SPDI:: NC_000003.12:47447017:CCCC:
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/9 (ALFA)
HGVS:: NC_000003.12:g.47447018_47447021del, NC_000003.11:g.47488508_47488511del

Select item 149097493615.

rs1490974936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:47469055 (GRCh38)
3:47510545 (GRCh37)
Canonical SPDI:: NC_000003.12:47469054:T:C
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.47469055T>C, NC_000003.11:g.47510545T>C, XM_047447739.1:c.-1286A>G

Select item 149094830616.

rs1490948306 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATA>- [Show Flanks]
Chromosome:: 3:47413732 (GRCh38)
3:47455222 (GRCh37)
Canonical SPDI:: NC_000003.12:47413729:TAATA:TA
Gene:: SCAP (Varview), PTPN23 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.47413732_47413734del, NC_000003.11:g.47455222_47455224del, NG_051056.1:g.37751_37753del, NM_012235.4:c.*122_*124del, NM_012235.3:c.*122_*124del, NM_012235.2:c.*122_*124del, XM_011533502.4:c.*122_*124del, XM_011533502.3:c.*122_*124del, XM_011533502.2:c.*122_*124del, XM_011533502.1:c.*122_*124del, XM_005264967.3:c.*122_*124del, XM_005264967.2:c.*122_*124del, XM_005264967.1:c.*122_*124del, XM_017005918.2:c.*122_*124del, XM_017005918.1:c.*122_*124del, XM_011533501.2:c.*122_*124del, XM_011533501.1:c.*122_*124del, NM_001320044.2:c.*122_*124del, NM_001320044.1:c.*122_*124del, XM_047447739.1:c.*122_*124del, XM_047447732.1:c.*122_*124del, XM_047447737.1:c.*122_*124del, XM_047447740.1:c.*122_*124del, XM_047447733.1:c.*122_*124del, XM_047447736.1:c.*122_*124del, XM_047447735.1:c.*122_*124del, XM_047447734.1:c.*122_*124del, XM_047447738.1:c.*122_*124del, XM_047447741.1:c.*122_*124del, XM_047447742.1:c.*122_*124del, XM_047447743.1:c.*122_*124del, XM_047447744.1:c.*122_*124del

Select item 149090065917.

rs1490900659 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:47453801 (GRCh38)
3:47495291 (GRCh37)
Canonical SPDI:: NC_000003.12:47453800:A:C
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.47453801A>C, NC_000003.11:g.47495291A>C

Select item 149088996818.

rs1490889968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:47449146 (GRCh38)
3:47490636 (GRCh37)
Canonical SPDI:: NC_000003.12:47449145:C:T
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.47449146C>T, NC_000003.11:g.47490636C>T, XM_047447734.1:c.-139G>A, XM_047447738.1:c.-139G>A

Select item 149077868219.

rs1490778682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 3:47422180 (GRCh38)
3:47463670 (GRCh37)
Canonical SPDI:: NC_000003.12:47422179:T:A,NC_000003.12:47422179:T:C,NC_000003.12:47422179:T:G
Gene:: SCAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.00382/7 (Korea1K)
HGVS:: NC_000003.12:g.47422180T>A, NC_000003.12:g.47422180T>C, NC_000003.12:g.47422180T>G, NC_000003.11:g.47463670T>A, NC_000003.11:g.47463670T>C, NC_000003.11:g.47463670T>G

Select item 149072796420.

rs1490727964 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:47475926 (GRCh38)
3:47517416 (GRCh37)
Canonical SPDI:: NC_000003.12:47475925:T:
Gene:: SCAP (Varview), LOC105377073 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.47475926del, NC_000003.11:g.47517416del, NM_012235.4:c.-226del, NM_012235.3:c.-226del, NM_012235.2:c.-226del, XM_005264967.3:c.-226del, XM_005264967.2:c.-226del, NM_001320044.2:c.-506del, NM_001320044.1:c.-506del

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