SNP Links for Gene (Select 7264) - SNP

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Select item 14902065411.

rs1490206541 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 8:143612135 (GRCh38)
8:144694305 (GRCh37)
Canonical SPDI:: NC_000008.11:143612134:A:
Gene:: GFUS (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.143612135del, NC_000008.10:g.144694305del, NG_051357.1:g.2480del, NT_187571.1:g.102175del

Select item 14901506672.

rs1490150667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:143613919 (GRCh38)
8:144696089 (GRCh37)
Canonical SPDI:: NC_000008.11:143613918:C:A
Gene:: GFUS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.143613919C>A, NC_000008.10:g.144696089C>A, NG_051357.1:g.696G>T, NT_187571.1:g.103959C>A

Select item 14900209703.

rs1490020970 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:143614145 (GRCh38)
8:144696315 (GRCh37)
Canonical SPDI:: NC_000008.11:143614144:T:C
Gene:: GFUS (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000008.11:g.143614145T>C, NC_000008.10:g.144696315T>C, NG_051357.1:g.470A>G, NT_187571.1:g.104185T>C

Select item 14885728654.

rs1488572865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:143613359 (GRCh38)
8:144695529 (GRCh37)
Canonical SPDI:: NC_000008.11:143613358:T:G
Gene:: GFUS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.143613359T>G, NC_000008.10:g.144695529T>G, NG_051357.1:g.1256A>C, NT_187571.1:g.103399T>G

Select item 14884808545.

rs1488480854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143633029 (GRCh38)
8:144715199 (GRCh37)
Canonical SPDI:: NC_000008.11:143633028:C:T
Gene:: LOC105375798 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.143633029C>T, NC_000008.10:g.144715199C>T, NT_187571.1:g.108861C>T

Select item 14881415986.

rs1488141598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143617493 (GRCh38)
8:144699663 (GRCh37)
Canonical SPDI:: NC_000008.11:143617492:C:T
Gene:: GFUS (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.143617493C>T, NC_000008.10:g.144699663C>T, NT_187571.1:g.107533C>T, XM_005251051.4:c.-108G>A, NM_003313.4:c.-31G>A, NM_003313.3:c.-31G>A, NM_001317783.2:c.-59G>A

Select item 14880742457.

rs1488074245 [Homo sapiens]

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

Select item 14880234768.

rs1488023476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:143615368 (GRCh38)
8:144697538 (GRCh37)
Canonical SPDI:: NC_000008.11:143615367:G:T
Gene:: GFUS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.143615368G>T, NC_000008.10:g.144697538G>T, NT_187571.1:g.105408G>T

Select item 14874002289.

rs1487400228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:143632726 (GRCh38)
8:144714896 (GRCh37)
Canonical SPDI:: NC_000008.11:143632725:G:A
Gene:: LOC105375798 (Varview)
Functional Consequence:: intron_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_000008.11:g.143632726G>A, NC_000008.10:g.144714896G>A, NT_187571.1:g.108558G>A

Select item 148729967610.

rs1487299676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:143612899 (GRCh38)
8:144695069 (GRCh37)
Canonical SPDI:: NC_000008.11:143612898:G:A,NC_000008.11:143612898:G:T
Gene:: GFUS (Varview)
Functional Consequence:: 3_prime_UTR_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_000008.11:g.143612899G>A, NC_000008.11:g.143612899G>T, NC_000008.10:g.144695069G>A, NC_000008.10:g.144695069G>T, NG_051357.1:g.1716C>T, NG_051357.1:g.1716C>A, NT_187571.1:g.102939G>A, NT_187571.1:g.102939G>T, XM_005251051.4:c.*11C>T, XM_005251051.4:c.*11C>A, XM_005251051.3:c.*11C>T, XM_005251051.3:c.*11C>A, XM_005251051.2:c.*11C>T, XM_005251051.2:c.*11C>A, XM_005251051.1:c.*11C>T, XM_005251051.1:c.*11C>A, NM_003313.4:c.*11C>T, NM_003313.4:c.*11C>A, NM_003313.3:c.*11C>T, NM_003313.3:c.*11C>A, XM_011517269.2:c.*11C>T, XM_011517269.2:c.*11C>A, XM_011517269.1:c.*11C>T, XM_011517269.1:c.*11C>A, NM_001317783.2:c.*11C>T, NM_001317783.2:c.*11C>A, NM_001317783.1:c.*11C>T, NM_001317783.1:c.*11C>A

Select item 148715973311.

rs1487159733 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGATTCC>- [Show Flanks]
Chromosome:: 8:143617176 (GRCh38)
8:144699346 (GRCh37)
Canonical SPDI:: NC_000008.11:143617174:CCAGATTCC:C
Gene:: GFUS (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143617176_143617183del, NC_000008.10:g.144699346_144699353del, NT_187571.1:g.107216_107223del, XM_005251051.4:c.204_211del, XM_005251051.1:c.204_211del, XP_005251108.3:p.Arg68fs

Select item 148680064812.

rs1486800648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:143632593 (GRCh38)
8:144714763 (GRCh37)
Canonical SPDI:: NC_000008.11:143632592:A:G,NC_000008.11:143632592:A:T
Gene:: LOC105375798 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000343/1 (KOREAN)
HGVS:: NC_000008.11:g.143632593A>G, NC_000008.11:g.143632593A>T, NC_000008.10:g.144714763A>G, NC_000008.10:g.144714763A>T, NT_187571.1:g.108425A>G, NT_187571.1:g.108425A>T

Select item 148676939513.

rs1486769395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:143633573 (GRCh38)
8:144715743 (GRCh37)
Canonical SPDI:: NC_000008.11:143633572:A:T
Gene:: LOC105375798 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.143633573A>T, NC_000008.10:g.144715743A>T, NT_187571.1:g.109405A>T, XR_928734.3:n.2569T>A, XR_928734.2:n.432T>A, XR_928734.1:n.432T>A

Select item 148665136414.

rs1486651364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143617151 (GRCh38)
8:144699321 (GRCh37)
Canonical SPDI:: NC_000008.11:143617150:C:T
Gene:: GFUS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.143617151C>T, NC_000008.10:g.144699321C>T, NT_187571.1:g.107191C>T, XM_005251051.4:c.235G>A, XM_005251051.1:c.235G>A, XP_005251108.3:p.Ala79Thr

Select item 148659911915.

rs1486599119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:143617073 (GRCh38)
8:144699243 (GRCh37)
Canonical SPDI:: NC_000008.11:143617072:G:C
Gene:: GFUS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000008.11:g.143617073G>C, NC_000008.10:g.144699243G>C, NT_187571.1:g.107113G>C, XM_005251051.4:c.313C>G, XM_005251051.1:c.313C>G, XP_005251108.3:p.Arg105Gly

Select item 148619828716.

rs1486198287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:143614948 (GRCh38)
8:144697118 (GRCh37)
Canonical SPDI:: NC_000008.11:143614947:C:A
Gene:: GFUS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143614948C>A, NC_000008.10:g.144697118C>A, NT_187571.1:g.104988C>A

Select item 148596707917.

rs1485967079 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTACATCCCAA [Show Flanks]
Chromosome:: 8:143618315 (GRCh38)
8:144700486 (GRCh37)
Canonical SPDI:: NC_000008.11:143618315:AA:AACTTACATCCCAA
Gene:: GFUS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: AACTTACATCCC=0.01229/156 (TOMMO)
AACTTACATCCC=0.01527/64 (Estonian)
HGVS:: NC_000008.11:g.143618317_143618318insCTTACATCCCAA, NC_000008.10:g.144700487_144700488insCTTACATCCCAA, NT_187571.1:g.108358_108369dup

Select item 148594620418.

rs1485946204 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:143619089 (GRCh38)
8:144701259 (GRCh37)
Canonical SPDI:: NC_000008.11:143619088:A:G
Gene:: GFUS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000009/1 (GnomAD)
HGVS:: NC_000008.11:g.143619089A>G, NC_000008.10:g.144701259A>G

Select item 148576016319.

rs1485760163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:143633145 (GRCh38)
8:144715315 (GRCh37)
Canonical SPDI:: NC_000008.11:143633144:C:T
Gene:: LOC105375798 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.143633145C>T, NC_000008.10:g.144715315C>T, NT_187571.1:g.108977C>T

Select item 148556669720.

rs1485566697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:143618252 (GRCh38)
8:144700422 (GRCh37)
Canonical SPDI:: NC_000008.11:143618251:G:A,NC_000008.11:143618251:G:C,NC_000008.11:143618251:G:T
Gene:: GFUS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.143618252G>A, NC_000008.11:g.143618252G>C, NC_000008.11:g.143618252G>T, NC_000008.10:g.144700422G>A, NC_000008.10:g.144700422G>C, NC_000008.10:g.144700422G>T, NT_187571.1:g.108292G>A, NT_187571.1:g.108292G>C, NT_187571.1:g.108292G>T

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