SNP Links for Gene (Select 105374590) - SNP

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Items: 1 to 20 of 2036

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Select item 14908229491.

rs1490822949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:47912852 (GRCh38)
2:48139991 (GRCh37)
Canonical SPDI:: NC_000002.12:47912851:T:A
Gene:: LOC105374590 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.47912852T>A, NC_000002.11:g.48139991T>A

Select item 14903163882.

rs1490316388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:47913147 (GRCh38)
2:48140286 (GRCh37)
Canonical SPDI:: NC_000002.12:47913146:A:G
Gene:: LOC105374590 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.47913147A>G, NC_000002.11:g.48140286A>G

Select item 14903060613.

rs1490306061 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:47912361 (GRCh38)
2:48139500 (GRCh37)
Canonical SPDI:: NC_000002.12:47912360:T:C
Gene:: LOC105374590 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.47912361T>C, NC_000002.11:g.48139500T>C

Select item 14894844704.

rs1489484470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:47917037 (GRCh38)
2:48144176 (GRCh37)
Canonical SPDI:: NC_000002.12:47917036:C:G,NC_000002.12:47917036:C:T
Gene:: LOC105374590 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (Korea1K)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.47917037C>G, NC_000002.12:g.47917037C>T, NC_000002.11:g.48144176C>G, NC_000002.11:g.48144176C>T

Select item 14891338465.

rs1489133846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:47917346 (GRCh38)
2:48144485 (GRCh37)
Canonical SPDI:: NC_000002.12:47917345:A:T
Gene:: LOC105374590 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.47917346A>T, NC_000002.11:g.48144485A>T

Select item 14888441796.

rs1488844179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:47914531 (GRCh38)
2:48141670 (GRCh37)
Canonical SPDI:: NC_000002.12:47914530:A:C,NC_000002.12:47914530:A:T
Gene:: LOC105374590 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.47914531A>C, NC_000002.12:g.47914531A>T, NC_000002.11:g.48141670A>C, NC_000002.11:g.48141670A>T, XR_001739452.2:n.199A>C, XR_001739452.2:n.199A>T, XR_001739452.1:n.199A>C, XR_001739452.1:n.199A>T

Select item 14881364837.

rs1488136483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:47918714 (GRCh38)
2:48145853 (GRCh37)
Canonical SPDI:: NC_000002.12:47918713:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00089/4 (ALFA)
A=0.00149/25 (TOMMO)
HGVS:: NC_000002.12:g.47918714C>A, NC_000002.11:g.48145853C>A

Select item 14878380938.

rs1487838093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47912885 (GRCh38)
2:48140024 (GRCh37)
Canonical SPDI:: NC_000002.12:47912884:G:A
Gene:: LOC105374590 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.47912885G>A, NC_000002.11:g.48140024G>A

Select item 14876015219.

rs1487601521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:47912465 (GRCh38)
2:48139604 (GRCh37)
Canonical SPDI:: NC_000002.12:47912464:T:A
Gene:: LOC105374590 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.47912465T>A, NC_000002.11:g.48139604T>A

Select item 148649347210.

rs1486493472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:47916970 (GRCh38)
2:48144109 (GRCh37)
Canonical SPDI:: NC_000002.12:47916969:T:C
Gene:: LOC105374590 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.47916970T>C, NC_000002.11:g.48144109T>C

Select item 148646542911.

rs1486465429 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 2:47918899 (GRCh38)
2:48146039 (GRCh37)
Canonical SPDI:: NC_000002.12:47918899:GT:GTGT
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
GT=0.000007/1 (GnomAD)
GT=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.47918900_47918901dup, NC_000002.11:g.48146039_48146040dup

Select item 148638225312.

rs1486382253 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGGGGTCACAGGGGAAGAGGCAG>- [Show Flanks]
Chromosome:: 2:47915660 (GRCh38)
2:48142799 (GRCh37)
Canonical SPDI:: NC_000002.12:47915650:AAGAGGCAGTGGGGGTCACAGGGGAAGAGGCAG:AAGAGGCAG
Gene:: LOC105374590 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAGGCAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.47915660_47915683del, NC_000002.11:g.48142799_48142822del

Select item 148561410213.

rs1485614102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47912861 (GRCh38)
2:48140000 (GRCh37)
Canonical SPDI:: NC_000002.12:47912860:G:A
Gene:: LOC105374590 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.47912861G>A, NC_000002.11:g.48140000G>A

Select item 148550831914.

rs1485508319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:47917032 (GRCh38)
2:48144171 (GRCh37)
Canonical SPDI:: NC_000002.12:47917031:C:A
Gene:: LOC105374590 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.47917032C>A, NC_000002.11:g.48144171C>A

Select item 148527393815.

rs1485273938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:47917453 (GRCh38)
2:48144592 (GRCh37)
Canonical SPDI:: NC_000002.12:47917452:T:C,NC_000002.12:47917452:T:G
Gene:: LOC105374590 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.47917453T>C, NC_000002.12:g.47917453T>G, NC_000002.11:g.48144592T>C, NC_000002.11:g.48144592T>G

Select item 148430337516.

rs1484303375 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>- [Show Flanks]
Chromosome:: 2:47912362 (GRCh38)
2:48139501 (GRCh37)
Canonical SPDI:: NC_000002.12:47912359:CTCTCT:CT
Gene:: LOC105374590 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.47912360CT[1], NC_000002.11:g.48139499CT[1]

Select item 148411958517.

rs1484119585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47917556 (GRCh38)
2:48144695 (GRCh37)
Canonical SPDI:: NC_000002.12:47917555:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000212/4 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.47917556G>A, NC_000002.11:g.48144695G>A

Select item 148311934818.

rs1483119348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:47914786 (GRCh38)
2:48141925 (GRCh37)
Canonical SPDI:: NC_000002.12:47914785:C:A
Gene:: LOC105374590 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000002.12:g.47914786C>A, NC_000002.11:g.48141925C>A, XR_001739452.2:n.454C>A, XR_001739452.1:n.454C>A

Select item 148283457019.

rs1482834570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:47919939 (GRCh38)
2:48147078 (GRCh37)
Canonical SPDI:: NC_000002.12:47919938:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000035/1 (TOMMO)
A=0.000042/11 (TOPMED)
A=0.000079/11 (GnomAD)
HGVS:: NC_000002.12:g.47919939G>A, NC_000002.11:g.48147078G>A

Select item 148247455620.

rs1482474556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:47914637 (GRCh38)
2:48141776 (GRCh37)
Canonical SPDI:: NC_000002.12:47914636:A:G,NC_000002.12:47914636:A:T
Gene:: LOC105374590 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.47914637A>G, NC_000002.12:g.47914637A>T, NC_000002.11:g.48141776A>G, NC_000002.11:g.48141776A>T, XR_001739452.2:n.305A>G, XR_001739452.2:n.305A>T, XR_001739452.1:n.305A>G, XR_001739452.1:n.305A>T

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