SNP Links for Nucleotide (Select 684625075) - SNP

Links from Nucleotide

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Select item 14855802121.

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 14852574802.

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 14839040733.

rs1483904073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1434235 (GRCh38)
1:1369615 (GRCh37)
Canonical SPDI:: NC_000001.11:1434234:G:A
Gene:: VWA1 (Varview), LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1434235G>A, NC_000001.10:g.1369615G>A, XM_017003066.2:c.205G>A, XM_017003066.1:c.205G>A, NR_125994.1:n.339C>T, NR_125995.1:n.339C>T, NR_125996.1:n.339C>T, XP_016858555.1:p.Ala69Thr

Select item 14836405324.

rs1483640532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1434484 (GRCh38)
1:1369864 (GRCh37)
Canonical SPDI:: NC_000001.11:1434483:C:T
Gene:: VWA1 (Varview), LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1434484C>T, NC_000001.10:g.1369864C>T, NG_076183.1:g.136C>T, NR_125994.1:n.90G>A, NR_125995.1:n.90G>A, NR_125996.1:n.90G>A

Select item 14790752165.

rs1479075216 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 1:1434505 (GRCh38)
1:1369885 (GRCh37)
Canonical SPDI:: NC_000001.11:1434501:CTCCTC:CTC
Gene:: VWA1 (Varview), LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CTCCTC=0./0 (ALFA)
HGVS:: NC_000001.11:g.1434502CTC[1], NC_000001.10:g.1369882CTC[1], NG_076183.1:g.154CTC[1], NR_125994.1:n.67GAG[1], NR_125995.1:n.67GAG[1], NR_125996.1:n.67GAG[1]

Select item 14762362416.

rs1476236241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1430441 (GRCh38)
1:1365821 (GRCh37)
Canonical SPDI:: NC_000001.11:1430440:C:T
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.1430441C>T, NC_000001.10:g.1365821C>T, NR_125994.1:n.910G>A, NR_125995.1:n.618G>A, NR_125996.1:n.608G>A

Select item 14706339507.

rs1470633950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:1434370 (GRCh38)
1:1369750 (GRCh37)
Canonical SPDI:: NC_000001.11:1434369:A:C
Gene:: VWA1 (Varview), LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.1434370A>C, NC_000001.10:g.1369750A>C, NG_076183.1:g.22A>C, XM_017003066.2:c.340A>C, XM_017003066.1:c.340A>C, NR_125994.1:n.204T>G, NR_125995.1:n.204T>G, NR_125996.1:n.204T>G, XP_016858555.1:p.Thr114Pro

Select item 14695772928.

rs1469577292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1430304 (GRCh38)
1:1365684 (GRCh37)
Canonical SPDI:: NC_000001.11:1430303:C:T
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1430304C>T, NC_000001.10:g.1365684C>T, NR_125994.1:n.1047G>A, NR_125995.1:n.755G>A, NR_125996.1:n.745G>A

Select item 14687623599.

rs1468762359 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 1:1430653 (GRCh38)
1:1366033 (GRCh37)
Canonical SPDI:: NC_000001.11:1430648:AACAACA:AACA
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1430650ACA[1], NC_000001.10:g.1366030ACA[1], NR_125994.1:n.697GTT[1], NR_125995.1:n.405GTT[1], NR_125996.1:n.395GTT[1]

Select item 146482931410.

rs1464829314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:1430317 (GRCh38)
1:1365697 (GRCh37)
Canonical SPDI:: NC_000001.11:1430316:G:C
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.1430317G>C, NC_000001.10:g.1365697G>C, NR_125994.1:n.1034C>G, NR_125995.1:n.742C>G, NR_125996.1:n.732C>G

Select item 146307459111.

rs1463074591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:1430605 (GRCh38)
1:1365985 (GRCh37)
Canonical SPDI:: NC_000001.11:1430604:G:C
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.1430605G>C, NC_000001.10:g.1365985G>C, NR_125994.1:n.746C>G, NR_125995.1:n.454C>G, NR_125996.1:n.444C>G

Select item 145130145312.

rs1451301453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1430448 (GRCh38)
1:1365828 (GRCh37)
Canonical SPDI:: NC_000001.11:1430447:C:T
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1430448C>T, NC_000001.10:g.1365828C>T, NR_125994.1:n.903G>A, NR_125995.1:n.611G>A, NR_125996.1:n.601G>A

Select item 144943157413.

rs1449431574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1430217 (GRCh38)
1:1365597 (GRCh37)
Canonical SPDI:: NC_000001.11:1430216:C:T
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1430217C>T, NC_000001.10:g.1365597C>T, NM_001146685.2:c.*2430C>T, NR_125994.1:n.1134G>A, NR_125995.1:n.842G>A, NR_125996.1:n.832G>A

Select item 144812661014.

rs1448126610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1430432 (GRCh38)
1:1365812 (GRCh37)
Canonical SPDI:: NC_000001.11:1430431:G:A
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
A=0.00039/7 (TOMMO)
HGVS:: NC_000001.11:g.1430432G>A, NC_000001.10:g.1365812G>A, NR_125994.1:n.919C>T, NR_125995.1:n.627C>T, NR_125996.1:n.617C>T

Select item 144372408815.

rs1443724088 has merged into rs1238383796 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 1:1434448 (GRCh38)
1:1369828 (GRCh37)
Canonical SPDI:: NC_000001.11:1434447:GGGGGGG:GGGGGG,NC_000001.11:1434447:GGGGGGG:GGGGGGGG
Gene:: VWA1 (Varview), LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.1434454del, NC_000001.11:g.1434454dup, NC_000001.10:g.1369834del, NC_000001.10:g.1369834dup, NG_076183.1:g.106del, NG_076183.1:g.106dup, NR_125994.1:n.126del, NR_125994.1:n.126dup, NR_125995.1:n.126del, NR_125995.1:n.126dup, NR_125996.1:n.126del, NR_125996.1:n.126dup

Select item 144276499616.

rs1442764996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:1430244 (GRCh38)
1:1365624 (GRCh37)
Canonical SPDI:: NC_000001.11:1430243:C:G,NC_000001.11:1430243:C:T
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.1430244C>G, NC_000001.11:g.1430244C>T, NC_000001.10:g.1365624C>G, NC_000001.10:g.1365624C>T, NM_001146685.2:c.*2457C>G, NM_001146685.2:c.*2457C>T, NR_125994.1:n.1107G>C, NR_125994.1:n.1107G>A, NR_125995.1:n.815G>C, NR_125995.1:n.815G>A, NR_125996.1:n.805G>C, NR_125996.1:n.805G>A

Select item 144060557417.

rs1440605574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:1430623 (GRCh38)
1:1366003 (GRCh37)
Canonical SPDI:: NC_000001.11:1430622:G:T
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1430623G>T, NC_000001.10:g.1366003G>T, NR_125994.1:n.728C>A, NR_125995.1:n.436C>A, NR_125996.1:n.426C>A

Select item 143803416718.

rs1438034167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1430197 (GRCh38)
1:1365577 (GRCh37)
Canonical SPDI:: NC_000001.11:1430196:G:A
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.1430197G>A, NC_000001.10:g.1365577G>A, NM_001146685.2:c.*2410G>A, NR_125994.1:n.1154C>T, NR_125995.1:n.862C>T, NR_125996.1:n.852C>T

Select item 143725049219.

rs1437250492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:1430645 (GRCh38)
1:1366025 (GRCh37)
Canonical SPDI:: NC_000001.11:1430644:T:C
Gene:: TMEM88B (Varview), LINC01770 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.1430645T>C, NC_000001.10:g.1366025T>C, NR_125994.1:n.706A>G, NR_125995.1:n.414A>G, NR_125996.1:n.404A>G

Select item 143678902720.

rs1436789027 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:1434574 (GRCh38)
1:1369954 (GRCh37)
Canonical SPDI:: NC_000001.11:1434571:GTGT:GT
Gene:: VWA1 (Varview), LINC01770 (Varview), LOC107985729 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,frameshift_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1434572GT[1], NC_000001.10:g.1369952GT[1], NG_076183.1:g.224GT[1], XM_017003066.2:c.411_412del, XM_017003066.1:c.411_412del, XP_016858555.1:p.His139fs

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