SNP Links for Gene (Select 6319) - SNP

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Select item 14914940331.

rs1491494033 has merged into rs35108206 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 10:100353595 (GRCh38)
10:102113352 (GRCh37)
Canonical SPDI:: NC_000010.11:100353582:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:100353582:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:100353582:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:100353582:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:100353582:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:100353582:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:100353582:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:100353582:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0794/306 (ALSPAC)
-=0.4609/2308 (1000Genomes)
HGVS:: NC_000010.11:g.100353595_100353600del, NC_000010.11:g.100353596_100353600del, NC_000010.11:g.100353598_100353600del, NC_000010.11:g.100353599_100353600del, NC_000010.11:g.100353600del, NC_000010.11:g.100353600dup, NC_000010.11:g.100353599_100353600dup, NC_000010.11:g.100353598_100353600dup, NC_000010.10:g.102113352_102113357del, NC_000010.10:g.102113353_102113357del, NC_000010.10:g.102113355_102113357del, NC_000010.10:g.102113356_102113357del, NC_000010.10:g.102113357del, NC_000010.10:g.102113357dup, NC_000010.10:g.102113356_102113357dup, NC_000010.10:g.102113355_102113357dup

Select item 14909923662.

rs1490992366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100353540 (GRCh38)
10:102113297 (GRCh37)
Canonical SPDI:: NC_000010.11:100353539:G:A
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.100353540G>A, NC_000010.10:g.102113297G>A

Select item 14908943973.

rs1490894397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:100351191 (GRCh38)
10:102110948 (GRCh37)
Canonical SPDI:: NC_000010.11:100351190:G:A
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.100351191G>A, NC_000010.10:g.102110948G>A, NG_047099.1:g.334C>T

Select item 14906905484.

rs1490690548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100359831 (GRCh38)
10:102119588 (GRCh37)
Canonical SPDI:: NC_000010.11:100359830:A:G
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.100359831A>G, NC_000010.10:g.102119588A>G

Select item 14903139325.

rs1490313932 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->T
Chromosome:: no mapping
Canonical SPDI:

Select item 14897084076.

rs1489708407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100350702 (GRCh38)
10:102110459 (GRCh37)
Canonical SPDI:: NC_000010.11:100350701:C:T
Gene:: SCD (Varview)
Functional Consequence:: intron_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_000010.11:g.100350702C>T, NC_000010.10:g.102110459C>T, NG_047099.1:g.823G>A

Select item 14896295287.

rs1489629528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:100346964 (GRCh38)
10:102106721 (GRCh37)
Canonical SPDI:: NC_000010.11:100346963:C:A
Gene:: SCD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100346964C>A, NC_000010.10:g.102106721C>A, NG_047099.1:g.4561G>T

Select item 14894806888.

rs1489480688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100350005 (GRCh38)
10:102109762 (GRCh37)
Canonical SPDI:: NC_000010.11:100350004:T:C
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.100350005T>C, NC_000010.10:g.102109762T>C, NG_047099.1:g.1520A>G

Select item 14894306849.

rs1489430684 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 10:100364110 (GRCh38)
10:102123868 (GRCh37)
Canonical SPDI:: NC_000010.11:100364110:TTAT:TTATTAT
Gene:: SCD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTATTAT=0./0 (ALFA)
HGVS:: NC_000010.11:g.100364112_100364114dup, NC_000010.10:g.102123869_102123871dup, NM_005063.5:c.*3179_*3181dup, NM_005063.4:c.*3179_*3181dup

Select item 148880036110.

rs1488800361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:100359300 (GRCh38)
10:102119057 (GRCh37)
Canonical SPDI:: NC_000010.11:100359299:G:C
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.100359300G>C, NC_000010.10:g.102119057G>C

Select item 148858951011.

rs1488589510 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAAAAGTT>- [Show Flanks]
Chromosome:: 10:100355161 (GRCh38)
10:102114918 (GRCh37)
Canonical SPDI:: NC_000010.11:100355158:TTCAAAAAGTT:TT
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000010.11:g.100355161_100355169del, NC_000010.10:g.102114918_102114926del

Select item 148854834612.

rs1488548346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100354729 (GRCh38)
10:102114486 (GRCh37)
Canonical SPDI:: NC_000010.11:100354728:A:G
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000042/11 (TOPMED)
HGVS:: NC_000010.11:g.100354729A>G, NC_000010.10:g.102114486A>G

Select item 148845570713.

rs1488455707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100353877 (GRCh38)
10:102113634 (GRCh37)
Canonical SPDI:: NC_000010.11:100353876:A:G
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.100353877A>G, NC_000010.10:g.102113634A>G

Select item 148843821614.

rs1488438216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:100348481 (GRCh38)
10:102108238 (GRCh37)
Canonical SPDI:: NC_000010.11:100348480:T:G
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.100348481T>G, NC_000010.10:g.102108238T>G, NG_047099.1:g.3044A>C

Select item 148827938115.

rs1488279381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100361355 (GRCh38)
10:102121112 (GRCh37)
Canonical SPDI:: NC_000010.11:100361354:T:C
Gene:: SCD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100361355T>C, NC_000010.10:g.102121112T>C, NM_005063.5:c.*422T>C, NM_005063.4:c.*422T>C

Select item 148824989416.

rs1488249894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:100358623 (GRCh38)
10:102118380 (GRCh37)
Canonical SPDI:: NC_000010.11:100358622:A:T
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000010.11:g.100358623A>T, NC_000010.10:g.102118380A>T

Select item 148824497617.

rs1488244976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:100361679 (GRCh38)
10:102121436 (GRCh37)
Canonical SPDI:: NC_000010.11:100361678:G:A,NC_000010.11:100361678:G:C
Gene:: SCD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.100361679G>A, NC_000010.11:g.100361679G>C, NC_000010.10:g.102121436G>A, NC_000010.10:g.102121436G>C, NM_005063.5:c.*746G>A, NM_005063.5:c.*746G>C, NM_005063.4:c.*746G>A, NM_005063.4:c.*746G>C

Select item 148803229718.

rs1488032297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:100357517 (GRCh38)
10:102117274 (GRCh37)
Canonical SPDI:: NC_000010.11:100357516:T:A,NC_000010.11:100357516:T:C
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.100357517T>A, NC_000010.11:g.100357517T>C, NC_000010.10:g.102117274T>A, NC_000010.10:g.102117274T>C

Select item 148795532219.

rs1487955322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:100349283 (GRCh38)
10:102109040 (GRCh37)
Canonical SPDI:: NC_000010.11:100349282:C:G
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100349283C>G, NC_000010.10:g.102109040C>G, NG_047099.1:g.2242G>C

Select item 148787894820.

rs1487878948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:100353069 (GRCh38)
10:102112826 (GRCh37)
Canonical SPDI:: NC_000010.11:100353068:T:C,NC_000010.11:100353068:T:G
Gene:: SCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.100353069T>C, NC_000010.11:g.100353069T>G, NC_000010.10:g.102112826T>C, NC_000010.10:g.102112826T>G

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