SNP Links for Gene (Select 407039) - SNP

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Items: 1 to 20 of 663

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Select item 14889880841.

rs1488988084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:41900095 (GRCh38)
22:42296099 (GRCh37)
Canonical SPDI:: NC_000022.11:41900094:T:C
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000057/8 (GnomAD)
C=0.000064/17 (TOPMED)
HGVS:: NC_000022.11:g.41900095T>C, NC_000022.10:g.42296099T>C, XM_017028921.3:c.*699T>C, XM_017028921.2:c.*699T>C, XM_017028921.1:c.*699T>C, XR_001755276.3:n.3297T>C, XR_001755276.2:n.3274T>C, XR_001755276.1:n.3152T>C, NR_103834.2:n.3397T>C, NR_103834.1:n.3423T>C

Select item 14887378432.

rs1488737843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:41900901 (GRCh38)
22:42296905 (GRCh37)
Canonical SPDI:: NC_000022.11:41900900:C:G
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41900901C>G, NC_000022.10:g.42296905C>G

Select item 14886950203.

rs1488695020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:41899702 (GRCh38)
22:42295706 (GRCh37)
Canonical SPDI:: NC_000022.11:41899701:G:A,NC_000022.11:41899701:G:T
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
T=0.000035/1 (TOMMO)
A=0.000036/5 (GnomAD)
A=0.000053/14 (TOPMED)
HGVS:: NC_000022.11:g.41899702G>A, NC_000022.11:g.41899702G>T, NC_000022.10:g.42295706G>A, NC_000022.10:g.42295706G>T, XM_017028921.3:c.*306G>A, XM_017028921.3:c.*306G>T, XM_017028921.2:c.*306G>A, XM_017028921.2:c.*306G>T, XM_017028921.1:c.*306G>A, XM_017028921.1:c.*306G>T

Select item 14866204964.

rs1486620496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:41901084 (GRCh38)
22:42297088 (GRCh37)
Canonical SPDI:: NC_000022.11:41901083:G:C
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.41901084G>C, NC_000022.10:g.42297088G>C

Select item 14859227665.

rs1485922766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41899375 (GRCh38)
22:42295379 (GRCh37)
Canonical SPDI:: NC_000022.11:41899374:G:A
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_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_000022.11:g.41899375G>A, NC_000022.10:g.42295379G>A, XM_017028921.3:c.2877G>A, XM_017028921.2:c.2877G>A, XM_017028921.1:c.2877G>A, XR_001755276.3:n.3043G>A, XR_001755276.2:n.3020G>A, XR_001755276.1:n.2898G>A, NR_103834.2:n.3143G>A, NR_103834.1:n.3169G>A

Select item 14853362606.

rs1485336260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41901386 (GRCh38)
22:42297390 (GRCh37)
Canonical SPDI:: NC_000022.11:41901385:C:T
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.41901386C>T, NC_000022.10:g.42297390C>T

Select item 14852041947.

rs1485204194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:41899115 (GRCh38)
22:42295119 (GRCh37)
Canonical SPDI:: NC_000022.11:41899114:G:T
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.41899115G>T, NC_000022.10:g.42295119G>T

Select item 14837790198.

rs1483779019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41900898 (GRCh38)
22:42296902 (GRCh37)
Canonical SPDI:: NC_000022.11:41900897:C:T
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
HGVS:: NC_000022.11:g.41900898C>T, NC_000022.10:g.42296902C>T

Select item 14824745439.

rs1482474543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41900831 (GRCh38)
22:42296835 (GRCh37)
Canonical SPDI:: NC_000022.11:41900830:C:T
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.41900831C>T, NC_000022.10:g.42296835C>T

Select item 148204519710.

rs1482045197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41900483 (GRCh38)
22:42296487 (GRCh37)
Canonical SPDI:: NC_000022.11:41900482:C:T
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41900483C>T, NC_000022.10:g.42296487C>T, NM_004599.4:c.2892C>T, NM_004599.3:c.2892C>T, XM_011530347.3:c.2517C>T, XM_011530347.2:c.2517C>T, XM_011530347.1:c.2517C>T, NR_103834.2:n.3578C>T, NR_103834.1:n.3604C>T

Select item 148095013311.

rs1480950133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:41900068 (GRCh38)
22:42296072 (GRCh37)
Canonical SPDI:: NC_000022.11:41900067:T:C
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_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_000022.11:g.41900068T>C, NC_000022.10:g.42296072T>C, XM_017028921.3:c.*672T>C, XM_017028921.2:c.*672T>C, XM_017028921.1:c.*672T>C, XR_001755276.3:n.3270T>C, XR_001755276.2:n.3247T>C, XR_001755276.1:n.3125T>C, NR_103834.2:n.3370T>C, NR_103834.1:n.3396T>C

Select item 148057214112.

rs1480572141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41900941 (GRCh38)
22:42296945 (GRCh37)
Canonical SPDI:: NC_000022.11:41900940:C:T
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41900941C>T, NC_000022.10:g.42296945C>T

Select item 148050009313.

rs1480500093 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:41899928 (GRCh38)
22:42295932 (GRCh37)
Canonical SPDI:: NC_000022.11:41899927:A:C,NC_000022.11:41899927:A:G
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.41899928A>C, NC_000022.11:g.41899928A>G, NC_000022.10:g.42295932A>C, NC_000022.10:g.42295932A>G, XM_017028921.3:c.*532A>C, XM_017028921.3:c.*532A>G, XM_017028921.2:c.*532A>C, XM_017028921.2:c.*532A>G, XM_017028921.1:c.*532A>C, XM_017028921.1:c.*532A>G

Select item 147938988414.

rs1479389884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:41900649 (GRCh38)
22:42296653 (GRCh37)
Canonical SPDI:: NC_000022.11:41900648:A:G
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41900649A>G, NC_000022.10:g.42296653A>G

Select item 147899148415.

rs1478991484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:41899244 (GRCh38)
22:42295248 (GRCh37)
Canonical SPDI:: NC_000022.11:41899243:C:G
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41899244C>G, NC_000022.10:g.42295248C>G, XM_017028921.3:c.2746C>G, XM_017028921.2:c.2746C>G, XM_017028921.1:c.2746C>G, XR_001755276.3:n.2912C>G, XR_001755276.2:n.2889C>G, XR_001755276.1:n.2767C>G, NR_103834.2:n.3012C>G, NR_103834.1:n.3038C>G, XP_016884410.1:p.His916Asp

Select item 147887297616.

rs1478872976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41900695 (GRCh38)
22:42296699 (GRCh37)
Canonical SPDI:: NC_000022.11:41900694:C:T
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41900695C>T, NC_000022.10:g.42296699C>T

Select item 147559348717.

rs1475593487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:41899163 (GRCh38)
22:42295167 (GRCh37)
Canonical SPDI:: NC_000022.11:41899162:T:A,NC_000022.11:41899162:T:C
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,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_000022.11:g.41899163T>A, NC_000022.11:g.41899163T>C, NC_000022.10:g.42295167T>A, NC_000022.10:g.42295167T>C

Select item 147418102818.

rs1474181028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:41899435 (GRCh38)
22:42295439 (GRCh37)
Canonical SPDI:: NC_000022.11:41899434:A:G
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.0005/1 (Korea1K)
HGVS:: NC_000022.11:g.41899435A>G, NC_000022.10:g.42295439A>G, XM_017028921.3:c.*39A>G, XM_017028921.2:c.*39A>G, XM_017028921.1:c.*39A>G, XR_001755276.3:n.3103A>G, XR_001755276.2:n.3080A>G, XR_001755276.1:n.2958A>G, NR_103834.2:n.3203A>G, NR_103834.1:n.3229A>G

Select item 147379936419.

rs1473799364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41899813 (GRCh38)
22:42295817 (GRCh37)
Canonical SPDI:: NC_000022.11:41899812:G:A
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41899813G>A, NC_000022.10:g.42295817G>A, XM_017028921.3:c.*417G>A, XM_017028921.2:c.*417G>A, XM_017028921.1:c.*417G>A

Select item 147328462020.

rs1473284620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41900499 (GRCh38)
22:42296503 (GRCh37)
Canonical SPDI:: NC_000022.11:41900498:G:A
Gene:: SREBF2 (Varview), MIR33A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,splice_donor_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.41900499G>A, NC_000022.10:g.42296503G>A

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