SNP Links for Gene (Select 7317) - SNP

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Select item 14915605061.

rs1491560506 has merged into rs1491013041 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: X:47208345 (GRCh38)
X:47067744 (GRCh37)
Canonical SPDI:: NC_000023.11:47208342:GCGC:GC,NC_000023.11:47208342:GCGC:GCGCGC
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.069506/892 (TOMMO)
HGVS:: NC_000023.11:g.47208343GC[1], NC_000023.11:g.47208343GC[3], NC_000023.10:g.47067742GC[1], NC_000023.10:g.47067742GC[3], NG_009161.1:g.22544GC[1], NG_009161.1:g.22544GC[3], NW_004166866.1:g.457904GC[1], NW_004166866.1:g.457904GC[3]

Select item 14913896092.

rs1491389609 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:47214463 (GRCh38)
X:47073863 (GRCh37)
Canonical SPDI:: NC_000023.11:47214463:GGGGG:GGGGGG
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47214468dup, NC_000023.10:g.47073867dup, NG_012517.2:g.1340dup, NG_009161.1:g.28669dup, NW_004166866.1:g.464029dup

Select item 14911580933.

rs1491158093 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACGC [Show Flanks]
Chromosome:: X:47208343 (GRCh38)
X:47067743 (GRCh37)
Canonical SPDI:: NC_000023.11:47208343:CGCACGCACGC:CGCACGCACGCACGC
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCACGCACGCACGC=0./0 (ALFA)
CGCA=0.00001/1 (GnomAD)
CGCA=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.47208347ACGC[3], NC_000023.10:g.47067746ACGC[3], NG_009161.1:g.22548ACGC[3], NW_004166866.1:g.457908ACGC[3]

Select item 14910464714.

rs1491046471 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: X:47208292 (GRCh38)
X:47067691 (GRCh37)
Canonical SPDI:: NC_000023.11:47208291:TA:
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47208292_47208293del, NC_000023.10:g.47067691_47067692del, NG_009161.1:g.22493_22494del, NW_004166866.1:g.457853_457854del

Select item 14910130415.

rs1491013041 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: X:47208345 (GRCh38)
X:47067744 (GRCh37)
Canonical SPDI:: NC_000023.11:47208342:GCGC:GC,NC_000023.11:47208342:GCGC:GCGCGC
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.069506/892 (TOMMO)
HGVS:: NC_000023.11:g.47208343GC[1], NC_000023.11:g.47208343GC[3], NC_000023.10:g.47067742GC[1], NC_000023.10:g.47067742GC[3], NG_009161.1:g.22544GC[1], NG_009161.1:g.22544GC[3], NW_004166866.1:g.457904GC[1], NW_004166866.1:g.457904GC[3]

Select item 14909819216.

rs1490981921 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: X:47190216 (GRCh38)
X:47049615 (GRCh37)
Canonical SPDI:: NC_000023.11:47190215:GG:G
Gene:: UBA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47190217del, NC_000023.10:g.47049616del, NG_009161.1:g.4418del, NW_004166866.1:g.439778del

Select item 14908564597.

rs1490856459 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTT>- [Show Flanks]
Chromosome:: X:47211495 (GRCh38)
X:47070894 (GRCh37)
Canonical SPDI:: NC_000023.11:47211489:TTCTTTCTT:TTCTT
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.47211491TCTT[1], NC_000023.10:g.47070890TCTT[1], NG_009161.1:g.25692TCTT[1], NW_004166866.1:g.461052TCTT[1]

Select item 14908493988.

rs1490849398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47191904 (GRCh38)
X:47051303 (GRCh37)
Canonical SPDI:: NC_000023.11:47191903:C:T
Gene:: UBA1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_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.47191904C>T, NC_000023.10:g.47051303C>T, NG_009161.1:g.6105C>T, NW_004166866.1:g.441465C>T

Select item 14907394029.

rs1490739402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47201789 (GRCh38)
X:47061188 (GRCh37)
Canonical SPDI:: NC_000023.11:47201788:G:A
Gene:: UBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47201789G>A, NC_000023.10:g.47061188G>A, NG_009161.1:g.15990G>A, NG_021353.1:g.1942G>A, NW_004166866.1:g.451350G>A

Select item 149028664510.

rs1490286645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:47200389 (GRCh38)
X:47059788 (GRCh37)
Canonical SPDI:: NC_000023.11:47200388:G:C
Gene:: UBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000067/7 (GnomAD)
C=0.000113/30 (TOPMED)
HGVS:: NC_000023.11:g.47200389G>C, NC_000023.10:g.47059788G>C, NG_009161.1:g.14590G>C, NG_021353.1:g.542G>C, NW_004166866.1:g.449950G>C

Select item 149016465011.

rs1490164650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:47189554 (GRCh38)
X:47048953 (GRCh37)
Canonical SPDI:: NC_000023.11:47189553:G:C,NC_000023.11:47189553:G:T
Gene:: UBA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.47189554G>C, NC_000023.11:g.47189554G>T, NC_000023.10:g.47048953G>C, NC_000023.10:g.47048953G>T, NG_009161.1:g.3755G>C, NG_009161.1:g.3755G>T, NW_004166866.1:g.439115G>C, NW_004166866.1:g.439115G>T

Select item 149015231812.

rs1490152318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:47209168 (GRCh38)
X:47068567 (GRCh37)
Canonical SPDI:: NC_000023.11:47209167:T:G
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.47209168T>G, NC_000023.10:g.47068567T>G, NG_009161.1:g.23369T>G, NW_004166866.1:g.458729T>G

Select item 149005505113.

rs1490055051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47210945 (GRCh38)
X:47070344 (GRCh37)
Canonical SPDI:: NC_000023.11:47210944:G:A
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.47210945G>A, NC_000023.10:g.47070344G>A, NG_009161.1:g.25146G>A, NW_004166866.1:g.460506G>A

Select item 149004267614.

rs1490042676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47210736 (GRCh38)
X:47070135 (GRCh37)
Canonical SPDI:: NC_000023.11:47210735:C:T
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000023.11:g.47210736C>T, NC_000023.10:g.47070135C>T, NG_009161.1:g.24937C>T, NW_004166866.1:g.460297C>T

Select item 148999022215.

rs1489990222 has merged into rs34770292 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: X:47208631 (GRCh38)
X:47068030 (GRCh37)
Canonical SPDI:: NC_000023.11:47208619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:47208619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:47208619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:47208619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:47208619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:47208619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:47208619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:47208619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:47208619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:47208619:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.25/2 (KOREAN)
T=0.4/16 (GENOME_DK)
HGVS:: NC_000023.11:g.47208631_47208638del, NC_000023.11:g.47208632_47208638del, NC_000023.11:g.47208633_47208638del, NC_000023.11:g.47208636_47208638del, NC_000023.11:g.47208637_47208638del, NC_000023.11:g.47208638del, NC_000023.11:g.47208638dup, NC_000023.11:g.47208637_47208638dup, NC_000023.11:g.47208636_47208638dup, NC_000023.11:g.47208635_47208638dup, NC_000023.10:g.47068030_47068037del, NC_000023.10:g.47068031_47068037del, NC_000023.10:g.47068032_47068037del, NC_000023.10:g.47068035_47068037del, NC_000023.10:g.47068036_47068037del, NC_000023.10:g.47068037del, NC_000023.10:g.47068037dup, NC_000023.10:g.47068036_47068037dup, NC_000023.10:g.47068035_47068037dup, NC_000023.10:g.47068034_47068037dup, NG_009161.1:g.22832_22839del, NG_009161.1:g.22833_22839del, NG_009161.1:g.22834_22839del, NG_009161.1:g.22837_22839del, NG_009161.1:g.22838_22839del, NG_009161.1:g.22839del, NG_009161.1:g.22839dup, NG_009161.1:g.22838_22839dup, NG_009161.1:g.22837_22839dup, NG_009161.1:g.22836_22839dup, NW_004166866.1:g.458192_458199del, NW_004166866.1:g.458193_458199del, NW_004166866.1:g.458194_458199del, NW_004166866.1:g.458197_458199del, NW_004166866.1:g.458198_458199del, NW_004166866.1:g.458199del, NW_004166866.1:g.458199dup, NW_004166866.1:g.458198_458199dup, NW_004166866.1:g.458197_458199dup, NW_004166866.1:g.458196_458199dup

Select item 148989351216.

rs1489893512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47210057 (GRCh38)
X:47069456 (GRCh37)
Canonical SPDI:: NC_000023.11:47210056:C:T
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.47210057C>T, NC_000023.10:g.47069456C>T, NG_009161.1:g.24258C>T, NM_003334.4:c.2133C>T, NM_003334.3:c.2133C>T, NM_153280.3:c.2133C>T, NM_153280.2:c.2133C>T, NW_004166866.1:g.459618C>T, XM_017029778.3:c.2217C>T, XM_017029778.2:c.2217C>T, XM_017029778.1:c.2217C>T, XM_017029777.2:c.2286C>T, XM_017029777.1:c.2286C>T, XM_017029780.2:c.2133C>T, XM_017029780.1:c.2133C>T, XM_005272649.2:c.2151C>T, XM_005272649.1:c.2151C>T, XM_011543954.2:c.2175C>T, XM_011543954.1:c.2175C>T, XM_047442420.1:c.2286C>T, XM_047442421.1:c.2214C>T, XM_047442422.1:c.2214C>T, XM_047442423.1:c.2151C>T, XM_047442424.1:c.2133C>T, XM_047442425.1:c.2133C>T

Select item 148972789117.

rs1489727891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47209844 (GRCh38)
X:47069243 (GRCh37)
Canonical SPDI:: NC_000023.11:47209843:C:T
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.47209844C>T, NC_000023.10:g.47069243C>T, NG_009161.1:g.24045C>T, NW_004166866.1:g.459405C>T

Select item 148951335318.

rs1489513353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:47193706 (GRCh38)
X:47053105 (GRCh37)
Canonical SPDI:: NC_000023.11:47193705:G:A,NC_000023.11:47193705:G:C
Gene:: UBA1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000053/14 (TOPMED)
HGVS:: NC_000023.11:g.47193706G>A, NC_000023.11:g.47193706G>C, NC_000023.10:g.47053105G>A, NC_000023.10:g.47053105G>C, NG_009161.1:g.7907G>A, NG_009161.1:g.7907G>C, NW_004166866.1:g.443267G>A, NW_004166866.1:g.443267G>C

Select item 148935320019.

rs1489353200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47214262 (GRCh38)
X:47073661 (GRCh37)
Canonical SPDI:: NC_000023.11:47214261:G:A
Gene:: UBA1 (Varview), LOC105373194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.47214262G>A, NC_000023.10:g.47073661G>A, NG_012517.2:g.1134G>A, NG_009161.1:g.28463G>A, NW_004166866.1:g.463823G>A

Select item 148922195320.

rs1489221953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:47192752 (GRCh38)
X:47052151 (GRCh37)
Canonical SPDI:: NC_000023.11:47192751:A:C
Gene:: UBA1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.47192752A>C, NC_000023.10:g.47052151A>C, NG_009161.1:g.6953A>C, NW_004166866.1:g.442313A>C

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