SNP Links for Gene (Select 102724312) - SNP

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Items: 1 to 20 of 2081

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Select item 14899032211.

rs1489903221 [Homo sapiens]

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

Select item 14897814752.

rs1489781475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:1429673 (GRCh38)
1:1365053 (GRCh37)
Canonical SPDI:: NC_000001.11:1429672:T:C,NC_000001.11:1429672:T:G
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1429673T>C, NC_000001.11:g.1429673T>G, NC_000001.10:g.1365053T>C, NC_000001.10:g.1365053T>G, NM_001146685.2:c.*1886T>C, NM_001146685.2:c.*1886T>G

Select item 14897774813.

rs1489777481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:1430964 (GRCh38)
1:1366344 (GRCh37)
Canonical SPDI:: NC_000001.11:1430963:G:A,NC_000001.11:1430963:G:T
Gene:: LINC01770 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.0005/8 (TOMMO)
A=0.00069/2 (KOREAN)
HGVS:: NC_000001.11:g.1430964G>A, NC_000001.11:g.1430964G>T, NC_000001.10:g.1366344G>A, NC_000001.10:g.1366344G>T

Select item 14890030624.

rs1489003062 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:1430762 (GRCh38)
1:1366142 (GRCh37)
Canonical SPDI:: NC_000001.11:1430761:TTT:TT
Gene:: LINC01770 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.1430764del, NC_000001.10:g.1366144del, NR_125994.1:n.589del

Select item 14889583695.

rs1488958369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:1431201 (GRCh38)
1:1366581 (GRCh37)
Canonical SPDI:: NC_000001.11:1431200:C:G
Gene:: LINC01770 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1431201C>G, NC_000001.10:g.1366581C>G

Select item 14884940406.

rs1488494040 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:1431882 (GRCh38)
1:1367262 (GRCh37)
Canonical SPDI:: NC_000001.11:1431878:GTGTG:GTG
Gene:: LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1431880TG[1], NC_000001.10:g.1367260TG[1]

Select item 14882745417.

rs1488274541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1429809 (GRCh38)
1:1365189 (GRCh37)
Canonical SPDI:: NC_000001.11:1429808:G:A
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.1429809G>A, NC_000001.10:g.1365189G>A, NM_001146685.2:c.*2022G>A

Select item 14881214188.

rs1488121418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1432324 (GRCh38)
1:1367704 (GRCh37)
Canonical SPDI:: NC_000001.11:1432323:C:T
Gene:: LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.1432324C>T, NC_000001.10:g.1367704C>T

Select item 14879387409.

rs1487938740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:1431079 (GRCh38)
1:1366459 (GRCh37)
Canonical SPDI:: NC_000001.11:1431078:T:C
Gene:: LINC01770 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000046/5 (GnomAD)
HGVS:: NC_000001.11:g.1431079T>C, NC_000001.10:g.1366459T>C

Select item 148782278910.

rs1487822789 has merged into rs201942185 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGCTGCCCCTCACCGCCGCTGCCCCTCACC>-,GCCGCTGCCCCTCACC,GCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC,GCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC,GCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC,GCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC,GCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC [Show Flanks]
Chromosome:: 1:1433026 (GRCh38)
1:1368406 (GRCh37)
Canonical SPDI:: NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACC,NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACC,NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC,NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC,NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC,NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC,NC_000001.11:1433010:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC:CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC
Gene:: LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACCGCCGCTGCCCCTCACC=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.1433026_1433057del, NC_000001.11:g.1433026GCCGCTGCCCCTCACC[1], NC_000001.11:g.1433026GCCGCTGCCCCTCACC[3], NC_000001.11:g.1433026GCCGCTGCCCCTCACC[4], NC_000001.11:g.1433026GCCGCTGCCCCTCACC[5], NC_000001.11:g.1433026GCCGCTGCCCCTCACC[6], NC_000001.11:g.1433026GCCGCTGCCCCTCACC[7], NC_000001.10:g.1368406_1368437del, NC_000001.10:g.1368406GCCGCTGCCCCTCACC[1], NC_000001.10:g.1368406GCCGCTGCCCCTCACC[3], NC_000001.10:g.1368406GCCGCTGCCCCTCACC[4], NC_000001.10:g.1368406GCCGCTGCCCCTCACC[5], NC_000001.10:g.1368406GCCGCTGCCCCTCACC[6], NC_000001.10:g.1368406GCCGCTGCCCCTCACC[7]

Select item 148760947811.

rs1487609478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1431822 (GRCh38)
1:1367202 (GRCh37)
Canonical SPDI:: NC_000001.11:1431821:C:T
Gene:: LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.1431822C>T, NC_000001.10:g.1367202C>T

Select item 148756411512.

rs1487564115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1432231 (GRCh38)
1:1367611 (GRCh37)
Canonical SPDI:: NC_000001.11:1432230:C:T
Gene:: LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.1432231C>T, NC_000001.10:g.1367611C>T

Select item 148670371513.

rs1486703715 has merged into rs533051276 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACCCCCTCACCCCCT>-,CACCCCCT,CACCCCCTCACCCCCTCACCCCCT [Show Flanks]
Chromosome:: 1:1431043 (GRCh38)
1:1366423 (GRCh37)
Canonical SPDI:: NC_000001.11:1431026:CACCCCCTCACCCCCTCACCCCCTCACCCCCT:CACCCCCTCACCCCCT,NC_000001.11:1431026:CACCCCCTCACCCCCTCACCCCCTCACCCCCT:CACCCCCTCACCCCCTCACCCCCT,NC_000001.11:1431026:CACCCCCTCACCCCCTCACCCCCTCACCCCCT:CACCCCCTCACCCCCTCACCCCCTCACCCCCTCACCCCCT
Gene:: LINC01770 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACCCCCTCACCCCCTCACCCCCTCACCCCCTCACCCCCT=0.0104/95 (ALFA)
CACCCCCT=0.2823/1414 (1000Genomes)
CACCCCCT=0.35/14 (GENOME_DK)
HGVS:: NC_000001.11:g.1431027CACCCCCT[2], NC_000001.11:g.1431027CACCCCCT[3], NC_000001.11:g.1431027CACCCCCT[5], NC_000001.10:g.1366407CACCCCCT[2], NC_000001.10:g.1366407CACCCCCT[3], NC_000001.10:g.1366407CACCCCCT[5]

Select item 148597265014.

rs1485972650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:1432547 (GRCh38)
1:1367927 (GRCh37)
Canonical SPDI:: NC_000001.11:1432546:G:A,NC_000001.11:1432546:G:T
Gene:: LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.1432547G>A, NC_000001.11:g.1432547G>T, NC_000001.10:g.1367927G>A, NC_000001.10:g.1367927G>T

Select item 148587286715.

rs1485872867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1434727 (GRCh38)
1:1370107 (GRCh37)
Canonical SPDI:: NC_000001.11:1434726:G:A
Gene:: VWA1 (Varview), LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: stop_gained,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1434727G>A, NC_000001.10:g.1370107G>A, NG_076183.1:g.379G>A, XM_017003066.2:c.564G>A, XM_017003066.1:c.564G>A, XP_016858555.1:p.Trp188Ter

Select item 148567122316.

rs1485671223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1433977 (GRCh38)
1:1369357 (GRCh37)
Canonical SPDI:: NC_000001.11:1433976:G:A
Gene:: VWA1 (Varview), LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000177/3 (TOMMO)
A=0.000223/1 (Estonian)
A=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.1433977G>A, NC_000001.10:g.1369357G>A, XM_017003066.2:c.71G>A, XM_017003066.1:c.71G>A, XP_016858555.1:p.Arg24His

Select item 148558021217.

rs1485580212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:1434489 (GRCh38)
1:1369869 (GRCh37)
Canonical SPDI:: NC_000001.11:1434488:T:A,NC_000001.11:1434488:T:C,NC_000001.11:1434488:T:G
Gene:: VWA1 (Varview), LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000547/1 (Korea1K)
HGVS:: NC_000001.11:g.1434489T>A, NC_000001.11:g.1434489T>C, NC_000001.11:g.1434489T>G, NC_000001.10:g.1369869T>A, NC_000001.10:g.1369869T>C, NC_000001.10:g.1369869T>G, NG_076183.1:g.141T>A, NG_076183.1:g.141T>C, NG_076183.1:g.141T>G, NR_125994.1:n.85A>T, NR_125994.1:n.85A>G, NR_125994.1:n.85A>C, NR_125995.1:n.85A>T, NR_125995.1:n.85A>G, NR_125995.1:n.85A>C, NR_125996.1:n.85A>T, NR_125996.1:n.85A>G, NR_125996.1:n.85A>C

Select item 148528710918.

rs1485287109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:1436002 (GRCh38)
1:1371382 (GRCh37)
Canonical SPDI:: NC_000001.11:1436001:C:G,NC_000001.11:1436001:C:T
Gene:: VWA1 (Varview), LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1436002C>G, NC_000001.11:g.1436002C>T, NC_000001.10:g.1371382C>G, NC_000001.10:g.1371382C>T

Select item 148525748019.

rs1485257480 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:1434308 (GRCh38)
1:1369688 (GRCh37)
Canonical SPDI:: NC_000001.11:1434307:T:C
Gene:: VWA1 (Varview), LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.1434308T>C, NC_000001.10:g.1369688T>C, XM_017003066.2:c.278T>C, XM_017003066.1:c.278T>C, NR_125994.1:n.266A>G, NR_125995.1:n.266A>G, NR_125996.1:n.266A>G, XP_016858555.1:p.Leu93Pro

Select item 148510806420.

rs1485108064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:1433332 (GRCh38)
1:1368712 (GRCh37)
Canonical SPDI:: NC_000001.11:1433331:C:A,NC_000001.11:1433331:C:T
Gene:: LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1433332C>A, NC_000001.11:g.1433332C>T, NC_000001.10:g.1368712C>A, NC_000001.10:g.1368712C>T

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