SNP Links for Gene (Select 5901) - SNP

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Select item 14914784801.

rs1491478480 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:130877050 (GRCh38)
12:131361595 (GRCh37)
Canonical SPDI:: NC_000012.12:130877049:CT:
Gene:: RAN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.130877050_130877051del, NC_000012.11:g.131361595_131361596del, NM_006325.5:c.*1124_*1125del, NM_006325.4:c.*1124_*1125del, NM_001300797.2:c.*1124_*1125del, NM_001300797.1:c.*1124_*1125del, NM_001300796.2:c.*1124_*1125del, NM_001300796.1:c.*1124_*1125del

Select item 14912401652.

rs1491240165 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:130878106 (GRCh38)
12:131362651 (GRCh37)
Canonical SPDI:: NC_000012.12:130878104:TGT:T
Gene:: RAN (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.130878106_130878107del, NC_000012.11:g.131362651_131362652del

Select item 14911658973.

rs1491165897 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:130878105 (GRCh38)
12:131362651 (GRCh37)
Canonical SPDI:: NC_000012.12:130878105:G:GG
Gene:: RAN (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.130878106dup, NC_000012.11:g.131362651dup

Select item 14909669984.

rs1490966998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:130876415 (GRCh38)
12:131360960 (GRCh37)
Canonical SPDI:: NC_000012.12:130876414:A:G
Gene:: RAN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.130876415A>G, NC_000012.11:g.131360960A>G, NM_006325.5:c.*489A>G, NM_006325.4:c.*489A>G, NM_001300797.2:c.*489A>G, NM_001300797.1:c.*489A>G, NM_001300796.2:c.*489A>G, NM_001300796.1:c.*489A>G

Select item 14904003485.

rs1490400348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:130870844 (GRCh38)
12:131355389 (GRCh37)
Canonical SPDI:: NC_000012.12:130870843:C:T
Gene:: RAN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.130870844C>T, NC_000012.11:g.131355389C>T

Select item 14903695436.

rs1490369543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:130870012 (GRCh38)
12:131354557 (GRCh37)
Canonical SPDI:: NC_000012.12:130870011:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.130870012G>A, NC_000012.11:g.131354557G>A

Select item 14899469797.

rs1489946979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 12:130873880 (GRCh38)
12:131358425 (GRCh37)
Canonical SPDI:: NC_000012.12:130873879:A:C,NC_000012.12:130873879:A:G,NC_000012.12:130873879:A:T
Gene:: RAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00025/4 (TOMMO)
T=0.00164/3 (Korea1K)
T=0.0024/7 (KOREAN)
HGVS:: NC_000012.12:g.130873880A>C, NC_000012.12:g.130873880A>G, NC_000012.12:g.130873880A>T, NC_000012.11:g.131358425A>C, NC_000012.11:g.131358425A>G, NC_000012.11:g.131358425A>T

Select item 14894643578.

rs1489464357 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCCCGTTCCCA>- [Show Flanks]
Chromosome:: 12:130872362 (GRCh38)
12:131356907 (GRCh37)
Canonical SPDI:: NC_000012.12:130872356:TCCCAGTCCCGTTCCCA:TCCCA
Gene:: RAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCCA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
-=0.000568/1 (Korea1K)
HGVS:: NC_000012.12:g.130872362_130872373del, NC_000012.11:g.131356907_131356918del

Select item 14892981609.

rs1489298160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:130877699 (GRCh38)
12:131362244 (GRCh37)
Canonical SPDI:: NC_000012.12:130877698:A:G
Gene:: RAN (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.130877699A>G, NC_000012.11:g.131362244A>G

Select item 148919230610.

rs1489192306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:130877293 (GRCh38)
12:131361838 (GRCh37)
Canonical SPDI:: NC_000012.12:130877292:A:C,NC_000012.12:130877292:A:G
Gene:: RAN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.130877293A>C, NC_000012.12:g.130877293A>G, NC_000012.11:g.131361838A>C, NC_000012.11:g.131361838A>G, NM_006325.5:c.*1367A>C, NM_006325.5:c.*1367A>G, NM_006325.4:c.*1367A>C, NM_006325.4:c.*1367A>G, NM_001300797.2:c.*1367A>C, NM_001300797.2:c.*1367A>G, NM_001300797.1:c.*1367A>C, NM_001300797.1:c.*1367A>G, NM_001300796.2:c.*1367A>C, NM_001300796.2:c.*1367A>G, NM_001300796.1:c.*1367A>C, NM_001300796.1:c.*1367A>G

Select item 148886366511.

rs1488863665 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:130876994 (GRCh38)
12:131361539 (GRCh37)
Canonical SPDI:: NC_000012.12:130876993:A:G
Gene:: RAN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.130876994A>G, NC_000012.11:g.131361539A>G, NM_006325.5:c.*1068A>G, NM_006325.4:c.*1068A>G, NM_001300797.2:c.*1068A>G, NM_001300797.1:c.*1068A>G, NM_001300796.2:c.*1068A>G, NM_001300796.1:c.*1068A>G

Select item 148882794212.

rs1488827942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:130870140 (GRCh38)
12:131354685 (GRCh37)
Canonical SPDI:: NC_000012.12:130870139:T:C
Gene:: RAN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000012.12:g.130870140T>C, NC_000012.11:g.131354685T>C

Select item 148843786913.

rs1488437869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:130870834 (GRCh38)
12:131355379 (GRCh37)
Canonical SPDI:: NC_000012.12:130870833:G:A
Gene:: RAN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.130870834G>A, NC_000012.11:g.131355379G>A

Select item 148839146814.

rs1488391468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:130871840 (GRCh38)
12:131356385 (GRCh37)
Canonical SPDI:: NC_000012.12:130871839:C:T
Gene:: RAN (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000012.12:g.130871840C>T, NC_000012.11:g.131356385C>T

Select item 148822447115.

rs1488224471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:130874039 (GRCh38)
12:131358584 (GRCh37)
Canonical SPDI:: NC_000012.12:130874038:G:A
Gene:: RAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.130874039G>A, NC_000012.11:g.131358584G>A

Select item 148818230316.

rs1488182303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:130876182 (GRCh38)
12:131360727 (GRCh37)
Canonical SPDI:: NC_000012.12:130876181:C:G,NC_000012.12:130876181:C:T
Gene:: RAN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.130876182C>G, NC_000012.12:g.130876182C>T, NC_000012.11:g.131360727C>G, NC_000012.11:g.131360727C>T, NM_006325.5:c.*256C>G, NM_006325.5:c.*256C>T, NM_006325.4:c.*256C>G, NM_006325.4:c.*256C>T, NM_006325.3:c.*256C>G, NM_006325.3:c.*256C>T, NM_001300797.2:c.*256C>G, NM_001300797.2:c.*256C>T, NM_001300797.1:c.*256C>G, NM_001300797.1:c.*256C>T, NM_001300796.2:c.*256C>G, NM_001300796.2:c.*256C>T, NM_001300796.1:c.*256C>G, NM_001300796.1:c.*256C>T

Select item 148811326517.

rs1488113265 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:130870033 (GRCh38)
12:131354578 (GRCh37)
Canonical SPDI:: NC_000012.12:130870032:A:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.130870033A>C, NC_000012.11:g.131354578A>C

Select item 148794729418.

rs1487947294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:130873585 (GRCh38)
12:131358130 (GRCh37)
Canonical SPDI:: NC_000012.12:130873584:T:A
Gene:: RAN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.130873585T>A, NC_000012.11:g.131358130T>A

Select item 148789789019.

rs1487897890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:130872040 (GRCh38)
12:131356585 (GRCh37)
Canonical SPDI:: NC_000012.12:130872039:C:G,NC_000012.12:130872039:C:T
Gene:: RAN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000062/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.130872040C>G, NC_000012.12:g.130872040C>T, NC_000012.11:g.131356585C>G, NC_000012.11:g.131356585C>T, NM_006325.4:c.-97C>G, NM_006325.4:c.-97C>T, NM_001300797.1:c.-315C>G, NM_001300797.1:c.-315C>T, NM_001300796.1:c.-307C>G, NM_001300796.1:c.-307C>T

Select item 148773370320.

rs1487733703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:130871504 (GRCh38)
12:131356049 (GRCh37)
Canonical SPDI:: NC_000012.12:130871503:G:A,NC_000012.12:130871503:G:T
Gene:: RAN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00011/2 (TOMMO)
A=0.00016/1 (1000Genomes)
T=0.00068/2 (KOREAN)
HGVS:: NC_000012.12:g.130871504G>A, NC_000012.12:g.130871504G>T, NC_000012.11:g.131356049G>A, NC_000012.11:g.131356049G>T

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