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Select item 14913798341.

rs1491379834 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:76163399 (GRCh38)
4:77084552 (GRCh37)
Canonical SPDI:: NC_000004.12:76163396:AAAA:AA
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.76163399_76163400del, NC_000004.11:g.77084552_77084553del, NG_012054.1:g.55485_55486del

Select item 14913731242.

rs1491373124 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA,AAAA [Show Flanks]
Chromosome:: 4:76170971 (GRCh38)
4:77092125 (GRCh37)
Canonical SPDI:: NC_000004.12:76170971:AA:AAAA,NC_000004.12:76170971:AA:AAAAAA
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.76170972_76170973dup, NC_000004.12:g.76170973_76170974insAAAA, NC_000004.11:g.77092125_77092126dup, NC_000004.11:g.77092126_77092127insAAAA, NG_012054.1:g.47910_47911dup, NG_012054.1:g.47911_47912insTTTT

Select item 14910325333.

rs1491032533 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 4:76167682 (GRCh38)
4:77088836 (GRCh37)
Canonical SPDI:: NC_000004.12:76167682::CG
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CG=0./0 (ALFA)
CG=0.00003/3 (GnomAD)
HGVS:: NC_000004.12:g.76167682_76167683insCG, NC_000004.11:g.77088835_77088836insCG, NG_012054.1:g.51200_51201insCG

Select item 14910171604.

rs1491017160 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 4:76167683 (GRCh38)
4:77088836 (GRCh37)
Canonical SPDI:: NC_000004.12:76167681:CGC:C
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
-=0.000186/21 (GnomAD)
HGVS:: NC_000004.12:g.76167683_76167684del, NC_000004.11:g.77088836_77088837del, NG_012054.1:g.51200_51201del

Select item 14908985735.

rs1490898573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:76214401 (GRCh38)
4:77135554 (GRCh37)
Canonical SPDI:: NC_000004.12:76214400:A:C
Gene:: SCARB2 (Varview), FAM47E (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.76214401A>C, NC_000004.11:g.77135554A>C, NG_012054.1:g.4482T>G, NM_001242936.1:c.-53A>C

Select item 14907548716.

rs1490754871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:76172532 (GRCh38)
4:77093685 (GRCh37)
Canonical SPDI:: NC_000004.12:76172531:C:A,NC_000004.12:76172531:C:T
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.76172532C>A, NC_000004.12:g.76172532C>T, NC_000004.11:g.77093685C>A, NC_000004.11:g.77093685C>T, NG_012054.1:g.46351G>T, NG_012054.1:g.46351G>A

Select item 14907518487.

rs1490751848 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATA>- [Show Flanks]
Chromosome:: 4:76182420 (GRCh38)
4:77103573 (GRCh37)
Canonical SPDI:: NC_000004.12:76182418:AATATA:A
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.76182420_76182424del, NC_000004.11:g.77103573_77103577del, NG_012054.1:g.36460_36464del

Select item 14907245048.

rs1490724504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:76213574 (GRCh38)
4:77134727 (GRCh37)
Canonical SPDI:: NC_000004.12:76213573:C:T
Gene:: SCARB2 (Varview), FAM47E (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.76213574C>T, NC_000004.11:g.77134727C>T, NG_012054.1:g.5309G>A, NM_005506.4:c.-31G>A, NM_005506.3:c.-31G>A, NM_001204255.2:c.-31G>A, NM_001204255.1:c.-31G>A

Select item 14907225589.

rs1490722558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:76205160 (GRCh38)
4:77126313 (GRCh37)
Canonical SPDI:: NC_000004.12:76205159:T:C
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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:: NC_000004.12:g.76205160T>C, NC_000004.11:g.77126313T>C, NG_012054.1:g.13723A>G

Select item 149069701710.

rs1490697017 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:76167071 (GRCh38)
4:77088225 (GRCh37)
Canonical SPDI:: NC_000004.12:76167071:T:TT
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.76167072dup, NC_000004.11:g.77088225dup, NG_012054.1:g.51811dup

Select item 149061735211.

rs1490617352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:76173471 (GRCh38)
4:77094624 (GRCh37)
Canonical SPDI:: NC_000004.12:76173470:C:T
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.76173471C>T, NC_000004.11:g.77094624C>T, NG_012054.1:g.45412G>A

Select item 149055055912.

rs1490550559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:76207989 (GRCh38)
4:77129142 (GRCh37)
Canonical SPDI:: NC_000004.12:76207988:T:C
Gene:: SCARB2 (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_000004.12:g.76207989T>C, NC_000004.11:g.77129142T>C, NG_012054.1:g.10894A>G

Select item 149054736413.

rs1490547364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:76190453 (GRCh38)
4:77111606 (GRCh37)
Canonical SPDI:: NC_000004.12:76190452:T:C
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.76190453T>C, NC_000004.11:g.77111606T>C, NG_012054.1:g.28430A>G

Select item 149052208814.

rs1490522088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:76191427 (GRCh38)
4:77112580 (GRCh37)
Canonical SPDI:: NC_000004.12:76191426:A:C
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.76191427A>C, NC_000004.11:g.77112580A>C, NG_012054.1:g.27456T>G

Select item 149049212415.

rs1490492124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:76198346 (GRCh38)
4:77119499 (GRCh37)
Canonical SPDI:: NC_000004.12:76198345:T:C
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
C=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.76198346T>C, NC_000004.11:g.77119499T>C, NG_012054.1:g.20537A>G

Select item 149046134116.

rs1490461341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:76199013 (GRCh38)
4:77120166 (GRCh37)
Canonical SPDI:: NC_000004.12:76199012:C:T
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.76199013C>T, NC_000004.11:g.77120166C>T, NG_012054.1:g.19870G>A

Select item 149042410417.

rs1490424104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:76215145 (GRCh38)
4:77136298 (GRCh37)
Canonical SPDI:: NC_000004.12:76215144:G:A
Gene:: SCARB2 (Varview), FAM47E (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.76215145G>A, NC_000004.11:g.77136298G>A, NG_012054.1:g.3738C>T

Select item 149040849618.

rs1490408496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:76214049 (GRCh38)
4:77135202 (GRCh37)
Canonical SPDI:: NC_000004.12:76214048:C:T
Gene:: SCARB2 (Varview), FAM47E (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.76214049C>T, NC_000004.11:g.77135202C>T, NG_012054.1:g.4834G>A, NM_001242936.1:c.-405C>T

Select item 149033136119.

rs1490331361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:76187583 (GRCh38)
4:77108736 (GRCh37)
Canonical SPDI:: NC_000004.12:76187582:T:C
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.76187583T>C, NC_000004.11:g.77108736T>C, NG_012054.1:g.31300A>G

Select item 149022964920.

rs1490229649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:76183112 (GRCh38)
4:77104265 (GRCh37)
Canonical SPDI:: NC_000004.12:76183111:T:C
Gene:: SCARB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.76183112T>C, NC_000004.11:g.77104265T>C, NG_012054.1:g.35771A>G

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