SNP Links for Gene (Select 100287216) - SNP

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Select item 14905738231.

rs1490573823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:109130330 (GRCh38)
2:109746786 (GRCh37)
Canonical SPDI:: NC_000002.12:109130329:A:G
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000043/6 (GnomAD)
G=0.000072/19 (TOPMED)
G=0.000156/1 (1000Genomes)
G=0.000212/4 (TOMMO)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.109130330A>G, NC_000002.11:g.109746786A>G

Select item 14905326342.

rs1490532634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:109130323 (GRCh38)
2:109746779 (GRCh37)
Canonical SPDI:: NC_000002.12:109130322:C:T
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.109130323C>T, NC_000002.11:g.109746779C>T

Select item 14900824533.

rs1490082453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:109131215 (GRCh38)
2:109747671 (GRCh37)
Canonical SPDI:: NC_000002.12:109131214:G:T
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.109131215G>T, NC_000002.11:g.109747671G>T

Select item 14890342684.

rs1489034268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:109128746 (GRCh38)
2:109745202 (GRCh37)
Canonical SPDI:: NC_000002.12:109128745:C:T
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.109128746C>T, NC_000002.11:g.109745202C>T, NR_029193.1:n.1374G>A

Select item 14889652065.

rs1488965206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:109131516 (GRCh38)
2:109747972 (GRCh37)
Canonical SPDI:: NC_000002.12:109131515:G:A
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000049/13 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000814/14 (TOMMO)
A=0.002053/6 (KOREAN)
A=0.003821/7 (Korea1K)
A=0.004673/1 (Vietnamese)
HGVS:: NC_000002.12:g.109131516G>A, NC_000002.11:g.109747972G>A

Select item 14888540206.

rs1488854020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:109131161 (GRCh38)
2:109747617 (GRCh37)
Canonical SPDI:: NC_000002.12:109131160:G:A
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.109131161G>A, NC_000002.11:g.109747617G>A

Select item 14887152767.

rs1488715276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:109129775 (GRCh38)
2:109746231 (GRCh37)
Canonical SPDI:: NC_000002.12:109129774:C:T
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.109129775C>T, NC_000002.11:g.109746231C>T, XM_011511109.3:c.235C>T, XM_011511109.2:c.235C>T, XM_011511109.1:c.235C>T, NM_001099289.3:c.235C>T, NM_001099289.2:c.235C>T, NM_001099289.1:c.235C>T, NR_029193.1:n.345G>A, XP_011509411.1:p.Arg79Cys, NP_001092759.1:p.Arg79Cys

Select item 14886383828.

rs1488638382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:109128350 (GRCh38)
2:109744806 (GRCh37)
Canonical SPDI:: NC_000002.12:109128349:C:T
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_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_000002.12:g.109128350C>T, NC_000002.11:g.109744806C>T, NR_029193.1:n.1770G>A

Select item 14881627929.

rs1488162792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:109129556 (GRCh38)
2:109746012 (GRCh37)
Canonical SPDI:: NC_000002.12:109129555:T:A
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.109129556T>A, NC_000002.11:g.109746012T>A, XM_011511109.3:c.16T>A, XM_011511109.2:c.16T>A, XM_011511109.1:c.16T>A, NM_001099289.3:c.16T>A, NM_001099289.2:c.16T>A, NM_001099289.1:c.16T>A, NR_029193.1:n.564A>T, XP_011509411.1:p.Ser6Thr, NP_001092759.1:p.Ser6Thr

Select item 148798856610.

rs1487988566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:109131038 (GRCh38)
2:109747494 (GRCh37)
Canonical SPDI:: NC_000002.12:109131037:A:C
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.109131038A>C, NC_000002.11:g.109747494A>C

Select item 148717666311.

rs1487176663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:109129275 (GRCh38)
2:109745731 (GRCh37)
Canonical SPDI:: NC_000002.12:109129274:A:C,NC_000002.12:109129274:A:G
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000033/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.109129275A>C, NC_000002.12:g.109129275A>G, NC_000002.11:g.109745731A>C, NC_000002.11:g.109745731A>G, XM_011511109.3:c.-266A>C, XM_011511109.3:c.-266A>G, NM_001099289.3:c.-266A>C, NM_001099289.3:c.-266A>G, NR_029193.1:n.845T>G, NR_029193.1:n.845T>C

Select item 148700527812.

rs1487005278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:109130709 (GRCh38)
2:109747165 (GRCh37)
Canonical SPDI:: NC_000002.12:109130708:C:A
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.109130709C>A, NC_000002.11:g.109747165C>A

Select item 148644959713.

rs1486449597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:109130570 (GRCh38)
2:109747026 (GRCh37)
Canonical SPDI:: NC_000002.12:109130569:G:T
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.109130570G>T, NC_000002.11:g.109747026G>T

Select item 148621975714.

rs1486219757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:109128195 (GRCh38)
2:109744651 (GRCh37)
Canonical SPDI:: NC_000002.12:109128194:G:A
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.109128195G>A, NC_000002.11:g.109744651G>A, NR_029193.1:n.1925C>T

Select item 148617072915.

rs1486170729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:109128947 (GRCh38)
2:109745403 (GRCh37)
Canonical SPDI:: NC_000002.12:109128946:C:T
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000011/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.109128947C>T, NC_000002.11:g.109745403C>T, NR_029193.1:n.1173G>A

Select item 148616910816.

rs1486169108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:109127225 (GRCh38)
2:109743681 (GRCh37)
Canonical SPDI:: NC_000002.12:109127224:C:T
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.109127225C>T, NC_000002.11:g.109743681C>T

Select item 148528709417.

rs1485287094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:109127784 (GRCh38)
2:109744240 (GRCh37)
Canonical SPDI:: NC_000002.12:109127783:G:A
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_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)
HGVS:: NC_000002.12:g.109127784G>A, NC_000002.11:g.109744240G>A, NR_029193.1:n.2336C>T

Select item 148498776118.

rs1484987761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:109129865 (GRCh38)
2:109746321 (GRCh37)
Canonical SPDI:: NC_000002.12:109129864:C:G
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.109129865C>G, NC_000002.11:g.109746321C>G, XM_011511109.3:c.325C>G, XM_011511109.2:c.325C>G, XM_011511109.1:c.325C>G, NM_001099289.3:c.325C>G, NM_001099289.2:c.325C>G, NM_001099289.1:c.325C>G, NR_029193.1:n.255G>C, XP_011509411.1:p.Pro109Ala, NP_001092759.1:p.Pro109Ala

Select item 148471928319.

rs1484719283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:109132000 (GRCh38)
2:109748456 (GRCh37)
Canonical SPDI:: NC_000002.12:109131999:C:T
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.109132000C>T, NC_000002.11:g.109748456C>T

Select item 148379998120.

rs1483799981 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAACTCGCTGTGCAGCGTCCAACC>- [Show Flanks]
Chromosome:: 2:109128061 (GRCh38)
2:109744517 (GRCh37)
Canonical SPDI:: NC_000002.12:109128059:CTGAACTCGCTGTGCAGCGTCCAACC:C
Gene:: RANBP2 (Varview), SH3RF3 (Varview), SH3RF3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.109128061_109128085del, NC_000002.11:g.109744517_109744541del, NR_029193.1:n.2036_2060del

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