SNP Links for Gene (Select 693160) - SNP

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Select item 14896920051.

rs1489692005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 4:82755357 (GRCh38)
4:83676510 (GRCh37)
Canonical SPDI:: NC_000004.12:82755356:A:C,NC_000004.12:82755356:A:T
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.82755357A>C, NC_000004.12:g.82755357A>T, NC_000004.11:g.83676510A>C, NC_000004.11:g.83676510A>T

Select item 14892453532.

rs1489245353 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:82753561 (GRCh38)
4:83674714 (GRCh37)
Canonical SPDI:: NC_000004.12:82753559:AGA:A
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.82753561_82753562del, NC_000004.11:g.83674714_83674715del

Select item 14873197693.

rs1487319769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:82753313 (GRCh38)
4:83674466 (GRCh37)
Canonical SPDI:: NC_000004.12:82753312:G:A
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.82753313G>A, NC_000004.11:g.83674466G>A

Select item 14871861804.

rs1487186180 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:82754138 (GRCh38)
4:83675292 (GRCh37)
Canonical SPDI:: NC_000004.12:82754138:AAAA:AAAAA
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.82754142dup, NC_000004.11:g.83675295dup

Select item 14865697045.

rs1486569704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:82754312 (GRCh38)
4:83675465 (GRCh37)
Canonical SPDI:: NC_000004.12:82754311:C:A
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_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_000004.12:g.82754312C>A, NC_000004.11:g.83675465C>A

Select item 14860818416.

rs1486081841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:82753412 (GRCh38)
4:83674565 (GRCh37)
Canonical SPDI:: NC_000004.12:82753411:C:A,NC_000004.12:82753411:C:T
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.82753412C>A, NC_000004.12:g.82753412C>T, NC_000004.11:g.83674565C>A, NC_000004.11:g.83674565C>T, NR_030301.1:n.19G>T, NR_030301.1:n.19G>A

Select item 14855898177.

rs1485589817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:82754627 (GRCh38)
4:83675780 (GRCh37)
Canonical SPDI:: NC_000004.12:82754626:G:A
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.82754627G>A, NC_000004.11:g.83675780G>A

Select item 14854857738.

rs1485485773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:82753469 (GRCh38)
4:83674622 (GRCh37)
Canonical SPDI:: NC_000004.12:82753468:G:A
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000004.12:g.82753469G>A, NC_000004.11:g.83674622G>A

Select item 14840811109.

rs1484081110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:82753525 (GRCh38)
4:83674678 (GRCh37)
Canonical SPDI:: NC_000004.12:82753524:T:C
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.82753525T>C, NC_000004.11:g.83674678T>C

Select item 148357470010.

rs1483574700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:82753077 (GRCh38)
4:83674230 (GRCh37)
Canonical SPDI:: NC_000004.12:82753076:A:C
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.82753077A>C, NC_000004.11:g.83674230A>C

Select item 148129391411.

rs1481293914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:82754847 (GRCh38)
4:83676000 (GRCh37)
Canonical SPDI:: NC_000004.12:82754846:C:T
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000094/25 (TOPMED)
HGVS:: NC_000004.12:g.82754847C>T, NC_000004.11:g.83676000C>T

Select item 148038278012.

rs1480382780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:82755177 (GRCh38)
4:83676330 (GRCh37)
Canonical SPDI:: NC_000004.12:82755176:G:A
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.82755177G>A, NC_000004.11:g.83676330G>A

Select item 147930243013.

rs1479302430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:82755410 (GRCh38)
4:83676563 (GRCh37)
Canonical SPDI:: NC_000004.12:82755409:G:A,NC_000004.12:82755409:G:T
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.82755410G>A, NC_000004.12:g.82755410G>T, NC_000004.11:g.83676563G>A, NC_000004.11:g.83676563G>T

Select item 147826437214.

rs1478264372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:82753009 (GRCh38)
4:83674162 (GRCh37)
Canonical SPDI:: NC_000004.12:82753008:C:G
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.82753009C>G, NC_000004.11:g.83674162C>G

Select item 147394114015.

rs1473941140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:82753473 (GRCh38)
4:83674626 (GRCh37)
Canonical SPDI:: NC_000004.12:82753472:T:C
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/2 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000004.12:g.82753473T>C, NC_000004.11:g.83674626T>C

Select item 147277535316.

rs1472775353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:82753906 (GRCh38)
4:83675059 (GRCh37)
Canonical SPDI:: NC_000004.12:82753905:G:C
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.82753906G>C, NC_000004.11:g.83675059G>C

Select item 147205032917.

rs1472050329 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:82754829 (GRCh38)
4:83675982 (GRCh37)
Canonical SPDI:: NC_000004.12:82754828:A:G
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000004.12:g.82754829A>G, NC_000004.11:g.83675982A>G

Select item 147089053418.

rs1470890534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:82753779 (GRCh38)
4:83674932 (GRCh37)
Canonical SPDI:: NC_000004.12:82753778:G:C
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000064/9 (GnomAD)
HGVS:: NC_000004.12:g.82753779G>C, NC_000004.11:g.83674932G>C

Select item 146923920219.

rs1469239202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:82752953 (GRCh38)
4:83674106 (GRCh37)
Canonical SPDI:: NC_000004.12:82752952:T:C
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_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.82752953T>C, NC_000004.11:g.83674106T>C

Select item 146869726920.

rs1468697269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:82753954 (GRCh38)
4:83675107 (GRCh37)
Canonical SPDI:: NC_000004.12:82753953:T:C
Gene:: SCD5 (Varview), MIR575 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.82753954T>C, NC_000004.11:g.83675107T>C

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