SNP Links for Gene (Select 8552) - SNP

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Select item 14887748891.

rs1488774889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47203975 (GRCh38)
X:47063374 (GRCh37)
Canonical SPDI:: NC_000023.11:47203974:C:T
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.00005/5 (GnomAD)
T=0.041667/2 (Vietnamese)
HGVS:: NC_000023.11:g.47203975C>T, NC_000023.10:g.47063374C>T, NG_009161.1:g.18176C>T, NG_021353.1:g.4128C>T, NW_004166866.1:g.453536C>T

Select item 14885603172.

rs1488560317 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47205034 (GRCh38)
X:47064433 (GRCh37)
Canonical SPDI:: NC_000023.11:47205033:A:G
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.47205034A>G, NC_000023.10:g.47064433A>G, NG_009161.1:g.19235A>G, NG_021353.1:g.5187A>G, NR_024616.1:n.187A>G, NW_004166866.1:g.454595A>G, XR_949047.4:n.594T>C, XR_949047.3:n.600T>C, XR_949047.2:n.585T>C, XR_949047.1:n.532T>C, NM_003669.1:c.-41A>G

Select item 14884181873.

rs1488418187 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47203148 (GRCh38)
X:47062547 (GRCh37)
Canonical SPDI:: NC_000023.11:47203147:T:C
Gene:: UBA1 (Varview), INE1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000023.11:g.47203148T>C, NC_000023.10:g.47062547T>C, NG_009161.1:g.17349T>C, NM_003334.4:c.1353T>C, NM_003334.3:c.1353T>C, NM_153280.3:c.1353T>C, NM_153280.2:c.1353T>C, NG_021353.1:g.3301T>C, NW_004166866.1:g.452709T>C, XM_017029778.3:c.1437T>C, XM_017029778.2:c.1437T>C, XM_017029778.1:c.1437T>C, XM_017029777.2:c.1506T>C, XM_017029777.1:c.1506T>C, XM_017029780.2:c.1353T>C, XM_017029780.1:c.1353T>C, XM_005272649.2:c.1371T>C, XM_005272649.1:c.1371T>C, XM_011543954.2:c.1395T>C, XM_011543954.1:c.1395T>C, XM_047442420.1:c.1506T>C, XM_047442421.1:c.1434T>C, XM_047442422.1:c.1434T>C, XM_047442423.1:c.1371T>C, XM_047442424.1:c.1353T>C, XM_047442425.1:c.1353T>C

Select item 14878727584.

rs1487872758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47203956 (GRCh38)
X:47063355 (GRCh37)
Canonical SPDI:: NC_000023.11:47203955:C:T
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47203956C>T, NC_000023.10:g.47063355C>T, NG_009161.1:g.18157C>T, NG_021353.1:g.4109C>T, NW_004166866.1:g.453517C>T

Select item 14875418825.

rs1487541882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47203363 (GRCh38)
X:47062762 (GRCh37)
Canonical SPDI:: NC_000023.11:47203362:C:T
Gene:: UBA1 (Varview), INE1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.47203363C>T, NC_000023.10:g.47062762C>T, NG_009161.1:g.17564C>T, NG_021353.1:g.3516C>T, NW_004166866.1:g.452924C>T

Select item 14862412376.

rs1486241237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:47205490 (GRCh38)
X:47064889 (GRCh37)
Canonical SPDI:: NC_000023.11:47205489:G:A,NC_000023.11:47205489:G:T
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000009/1 (GnomAD_exomes)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.47205490G>A, NC_000023.11:g.47205490G>T, NC_000023.10:g.47064889G>A, NC_000023.10:g.47064889G>T, NG_009161.1:g.19691G>A, NG_009161.1:g.19691G>T, NG_021353.1:g.5643G>A, NG_021353.1:g.5643G>T, NR_024616.1:n.643G>A, NR_024616.1:n.643G>T, NW_004166866.1:g.455051G>A, NW_004166866.1:g.455051G>T, NM_003669.1:c.*136G>A, NM_003669.1:c.*136G>T

Select item 14846046937.

rs1484604693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47204828 (GRCh38)
X:47064227 (GRCh37)
Canonical SPDI:: NC_000023.11:47204827:C:T
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47204828C>T, NC_000023.10:g.47064227C>T, NG_009161.1:g.19029C>T, NG_021353.1:g.4981C>T, NW_004166866.1:g.454389C>T, XR_949047.4:n.800G>A, XR_949047.1:n.738G>A

Select item 14843693908.

rs1484369390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47204680 (GRCh38)
X:47064079 (GRCh37)
Canonical SPDI:: NC_000023.11:47204679:C:T
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47204680C>T, NC_000023.10:g.47064079C>T, NG_009161.1:g.18881C>T, NG_021353.1:g.4833C>T, NW_004166866.1:g.454241C>T, XR_949047.4:n.948G>A, XR_949047.1:n.886G>A

Select item 14843390509.

rs1484339050 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:47203750 (GRCh38)
X:47063150 (GRCh37)
Canonical SPDI:: NC_000023.11:47203750::C
Gene:: UBA1 (Varview), INE1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.00021/1 (1000Genomes)
HGVS:: NC_000023.11:g.47203750_47203751insC, NC_000023.10:g.47063149_47063150insC, NG_009161.1:g.17951_17952insC, NG_021353.1:g.3903_3904insC, NW_004166866.1:g.453311_453312insC

Select item 148121425810.

rs1481214258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:47203517 (GRCh38)
X:47062916 (GRCh37)
Canonical SPDI:: NC_000023.11:47203516:C:G
Gene:: UBA1 (Varview), INE1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.47203517C>G, NC_000023.10:g.47062916C>G, NG_009161.1:g.17718C>G, NG_021353.1:g.3670C>G, NW_004166866.1:g.453078C>G

Select item 148106999811.

rs1481069998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:47205877 (GRCh38)
X:47065276 (GRCh37)
Canonical SPDI:: NC_000023.11:47205876:G:A,NC_000023.11:47205876:G:T
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.47205877G>A, NC_000023.11:g.47205877G>T, NC_000023.10:g.47065276G>A, NC_000023.10:g.47065276G>T, NG_009161.1:g.20078G>A, NG_009161.1:g.20078G>T, NG_021353.1:g.6030G>A, NG_021353.1:g.6030G>T, NW_004166866.1:g.455438G>A, NW_004166866.1:g.455438G>T

Select item 147826257112.

rs1478262571 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: X:47204139 (GRCh38)
X:47063538 (GRCh37)
Canonical SPDI:: NC_000023.11:47204137:TGT:T
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00019/4 (TOMMO)
HGVS:: NC_000023.11:g.47204139_47204140del, NC_000023.10:g.47063538_47063539del, NG_009161.1:g.18340_18341del, NG_021353.1:g.4292_4293del, NW_004166866.1:g.453700_453701del

Select item 147794750013.

rs1477947500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47204265 (GRCh38)
X:47063664 (GRCh37)
Canonical SPDI:: NC_000023.11:47204264:A:G
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00002/2 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000023.11:g.47204265A>G, NC_000023.10:g.47063664A>G, NG_009161.1:g.18466A>G, NG_021353.1:g.4418A>G, NW_004166866.1:g.453826A>G

Select item 147791769414.

rs1477917694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47203326 (GRCh38)
X:47062725 (GRCh37)
Canonical SPDI:: NC_000023.11:47203325:C:T
Gene:: UBA1 (Varview), INE1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.47203326C>T, NC_000023.10:g.47062725C>T, NG_009161.1:g.17527C>T, NG_021353.1:g.3479C>T, NW_004166866.1:g.452887C>T

Select item 147762020015.

rs1477620200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:47204070 (GRCh38)
X:47063469 (GRCh37)
Canonical SPDI:: NC_000023.11:47204069:C:A,NC_000023.11:47204069:C:T
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000078/1 (TOMMO)
HGVS:: NC_000023.11:g.47204070C>A, NC_000023.11:g.47204070C>T, NC_000023.10:g.47063469C>A, NC_000023.10:g.47063469C>T, NG_009161.1:g.18271C>A, NG_009161.1:g.18271C>T, NG_021353.1:g.4223C>A, NG_021353.1:g.4223C>T, NW_004166866.1:g.453631C>A, NW_004166866.1:g.453631C>T

Select item 147669129316.

rs1476691293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47205611 (GRCh38)
X:47065010 (GRCh37)
Canonical SPDI:: NC_000023.11:47205610:C:T
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.47205611C>T, NC_000023.10:g.47065010C>T, NG_009161.1:g.19812C>T, NG_021353.1:g.5764C>T, NR_024616.1:n.764C>T, NW_004166866.1:g.455172C>T, NM_003669.1:c.*257C>T

Select item 147602590217.

rs1476025902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47206137 (GRCh38)
X:47065536 (GRCh37)
Canonical SPDI:: NC_000023.11:47206136:G:A
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47206137G>A, NC_000023.10:g.47065536G>A, NG_009161.1:g.20338G>A, NG_021353.1:g.6290G>A, NW_004166866.1:g.455698G>A

Select item 147470327218.

rs1474703272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47205715 (GRCh38)
X:47065114 (GRCh37)
Canonical SPDI:: NC_000023.11:47205714:A:G
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47205715A>G, NC_000023.10:g.47065114A>G, NG_009161.1:g.19916A>G, NG_021353.1:g.5868A>G, NR_024616.1:n.868A>G, NW_004166866.1:g.455276A>G, NM_003669.1:c.*361A>G

Select item 147469241019.

rs1474692410 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATT>- [Show Flanks]
Chromosome:: X:47204291 (GRCh38)
X:47063690 (GRCh37)
Canonical SPDI:: NC_000023.11:47204287:ATTTATT:ATT
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47204291_47204294del, NC_000023.10:g.47063690_47063693del, NG_009161.1:g.18492_18495del, NG_021353.1:g.4444_4447del, NW_004166866.1:g.453852_453855del, XR_949047.4:n.1337_1340del, XR_949047.1:n.1275_1278del

Select item 147468401820.

rs1474684018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47205596 (GRCh38)
X:47064995 (GRCh37)
Canonical SPDI:: NC_000023.11:47205595:C:T
Gene:: UBA1 (Varview), INE1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000023.11:g.47205596C>T, NC_000023.10:g.47064995C>T, NG_009161.1:g.19797C>T, NG_021353.1:g.5749C>T, NR_024616.1:n.749C>T, NW_004166866.1:g.455157C>T, NM_003669.1:c.*242C>T

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