SNP Links for Gene (Select 92126) - SNP

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Select item 14910551701.

rs1491055170 has merged into rs71171183 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:67508737 (GRCh38)
18:65175974 (GRCh37)
Canonical SPDI:: NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:67508731:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DSEL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.3329/1667 (1000Genomes)
HGVS:: NC_000018.10:g.67508737_67508747del, NC_000018.10:g.67508738_67508747del, NC_000018.10:g.67508739_67508747del, NC_000018.10:g.67508740_67508747del, NC_000018.10:g.67508741_67508747del, NC_000018.10:g.67508742_67508747del, NC_000018.10:g.67508743_67508747del, NC_000018.10:g.67508744_67508747del, NC_000018.10:g.67508745_67508747del, NC_000018.10:g.67508746_67508747del, NC_000018.10:g.67508747del, NC_000018.10:g.67508747dup, NC_000018.10:g.67508746_67508747dup, NC_000018.10:g.67508745_67508747dup, NC_000018.10:g.67508744_67508747dup, NC_000018.10:g.67508740_67508747dup, NC_000018.10:g.67508739_67508747dup, NC_000018.10:g.67508738_67508747dup, NC_000018.10:g.67508733_67508747dup, NC_000018.9:g.65175974_65175984del, NC_000018.9:g.65175975_65175984del, NC_000018.9:g.65175976_65175984del, NC_000018.9:g.65175977_65175984del, NC_000018.9:g.65175978_65175984del, NC_000018.9:g.65175979_65175984del, NC_000018.9:g.65175980_65175984del, NC_000018.9:g.65175981_65175984del, NC_000018.9:g.65175982_65175984del, NC_000018.9:g.65175983_65175984del, NC_000018.9:g.65175984del, NC_000018.9:g.65175984dup, NC_000018.9:g.65175983_65175984dup, NC_000018.9:g.65175982_65175984dup, NC_000018.9:g.65175981_65175984dup, NC_000018.9:g.65175977_65175984dup, NC_000018.9:g.65175976_65175984dup, NC_000018.9:g.65175975_65175984dup, NC_000018.9:g.65175970_65175984dup, NW_003315960.1:g.154464_154474del, NW_003315960.1:g.154465_154474del, NW_003315960.1:g.154466_154474del, NW_003315960.1:g.154467_154474del, NW_003315960.1:g.154468_154474del, NW_003315960.1:g.154469_154474del, NW_003315960.1:g.154470_154474del, NW_003315960.1:g.154471_154474del, NW_003315960.1:g.154472_154474del, NW_003315960.1:g.154473_154474del, NW_003315960.1:g.154474del, NW_003315960.1:g.154474dup, NW_003315960.1:g.154473_154474dup, NW_003315960.1:g.154472_154474dup, NW_003315960.1:g.154471_154474dup, NW_003315960.1:g.154467_154474dup, NW_003315960.1:g.154466_154474dup, NW_003315960.1:g.154465_154474dup, NW_003315960.1:g.154460_154474dup, NM_032160.3:c.*2228_*2238del, NM_032160.3:c.*2229_*2238del, NM_032160.3:c.*2230_*2238del, NM_032160.3:c.*2231_*2238del, NM_032160.3:c.*2232_*2238del, NM_032160.3:c.*2233_*2238del, NM_032160.3:c.*2234_*2238del, NM_032160.3:c.*2235_*2238del, NM_032160.3:c.*2236_*2238del, NM_032160.3:c.*2237_*2238del, NM_032160.3:c.*2238del, NM_032160.3:c.*2238dup, NM_032160.3:c.*2237_*2238dup, NM_032160.3:c.*2236_*2238dup, NM_032160.3:c.*2235_*2238dup, NM_032160.3:c.*2231_*2238dup, NM_032160.3:c.*2230_*2238dup, NM_032160.3:c.*2229_*2238dup, NM_032160.3:c.*2224_*2238dup, NM_032160.2:c.*2228_*2238del, NM_032160.2:c.*2229_*2238del, NM_032160.2:c.*2230_*2238del, NM_032160.2:c.*2231_*2238del, NM_032160.2:c.*2232_*2238del, NM_032160.2:c.*2233_*2238del, NM_032160.2:c.*2234_*2238del, NM_032160.2:c.*2235_*2238del, NM_032160.2:c.*2236_*2238del, NM_032160.2:c.*2237_*2238del, NM_032160.2:c.*2238del, NM_032160.2:c.*2238dup, NM_032160.2:c.*2237_*2238dup, NM_032160.2:c.*2236_*2238dup, NM_032160.2:c.*2235_*2238dup, NM_032160.2:c.*2231_*2238dup, NM_032160.2:c.*2230_*2238dup, NM_032160.2:c.*2229_*2238dup, NM_032160.2:c.*2224_*2238dup

Select item 14910264602.

rs1491026460 has merged into rs3073946 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC [Show Flanks]
Chromosome:: 18:67510880 (GRCh38)
18:65178117 (GRCh37)
Canonical SPDI:: NC_000018.10:67510866:CACACACACACACACAC:CACACACACACAC,NC_000018.10:67510866:CACACACACACACACAC:CACACACACACACAC,NC_000018.10:67510866:CACACACACACACACAC:CACACACACACACACACAC,NC_000018.10:67510866:CACACACACACACACAC:CACACACACACACACACACAC,NC_000018.10:67510866:CACACACACACACACAC:CACACACACACACACACACACAC,NC_000018.10:67510866:CACACACACACACACAC:CACACACACACACACACACACACAC
Gene:: DSEL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACAC=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
-=0.3767/1598 (Estonian)
HGVS:: NC_000018.10:g.67510868AC[6], NC_000018.10:g.67510868AC[7], NC_000018.10:g.67510868AC[9], NC_000018.10:g.67510868AC[10], NC_000018.10:g.67510868AC[11], NC_000018.10:g.67510868AC[12], NC_000018.9:g.65178105AC[6], NC_000018.9:g.65178105AC[7], NC_000018.9:g.65178105AC[9], NC_000018.9:g.65178105AC[10], NC_000018.9:g.65178105AC[11], NC_000018.9:g.65178105AC[12], NW_003315960.1:g.156595AC[6], NW_003315960.1:g.156595AC[7], NW_003315960.1:g.156595AC[9], NW_003315960.1:g.156595AC[10], NW_003315960.1:g.156595AC[11], NW_003315960.1:g.156595AC[12], NM_032160.3:c.*88TG[6], NM_032160.3:c.*88TG[7], NM_032160.3:c.*88TG[9], NM_032160.3:c.*88TG[10], NM_032160.3:c.*88TG[11], NM_032160.3:c.*88TG[12], NM_032160.2:c.*88TG[6], NM_032160.2:c.*88TG[7], NM_032160.2:c.*88TG[9], NM_032160.2:c.*88TG[10], NM_032160.2:c.*88TG[11], NM_032160.2:c.*88TG[12]

Select item 14910250443.

rs1491025044 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 18:67510883 (GRCh38)
18:65178120 (GRCh37)
Canonical SPDI:: NC_000018.10:67510882:CT:
Gene:: DSEL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.67510883_67510884del, NC_000018.9:g.65178120_65178121del, NW_003315960.1:g.156610_156611del, NM_032160.3:c.*86_*87del, NM_032160.2:c.*86_*87del

Select item 14906790254.

rs1490679025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:67513933 (GRCh38)
18:65181170 (GRCh37)
Canonical SPDI:: NC_000018.10:67513932:C:T
Gene:: DSEL (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000018.10:g.67513933C>T, NC_000018.9:g.65181170C>T, NW_003315960.1:g.159660C>T, NM_032160.3:c.676G>A, NM_032160.2:c.706G>A, NP_115536.2:p.Ala226Thr

Select item 14905209705.

rs1490520970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:67513289 (GRCh38)
18:65180526 (GRCh37)
Canonical SPDI:: NC_000018.10:67513288:C:A
Gene:: DSEL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000018.10:g.67513289C>A, NC_000018.9:g.65180526C>A, NW_003315960.1:g.159016C>A, NM_032160.3:c.1320G>T, NM_032160.2:c.1350G>T

Select item 14900575636.

rs1490057563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:67512810 (GRCh38)
18:65180047 (GRCh37)
Canonical SPDI:: NC_000018.10:67512809:G:A
Gene:: DSEL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.67512810G>A, NC_000018.9:g.65180047G>A, NW_003315960.1:g.158537G>A, NM_032160.3:c.1799C>T, NM_032160.2:c.1829C>T, NP_115536.2:p.Ala600Val

Select item 14900401097.

rs1490040109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:67513722 (GRCh38)
18:65180959 (GRCh37)
Canonical SPDI:: NC_000018.10:67513721:C:T
Gene:: DSEL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.67513722C>T, NC_000018.9:g.65180959C>T, NW_003315960.1:g.159449C>T, NM_032160.3:c.887G>A, NM_032160.2:c.917G>A, NP_115536.2:p.Arg296His

Select item 14896985268.

rs1489698526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:67513739 (GRCh38)
18:65180976 (GRCh37)
Canonical SPDI:: NC_000018.10:67513738:A:C
Gene:: DSEL (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.67513739A>C, NC_000018.9:g.65180976A>C, NW_003315960.1:g.159466A>C, NM_032160.3:c.870T>G, NM_032160.2:c.900T>G, NP_115536.2:p.Tyr290Ter

Select item 14893648459.

rs1489364845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:67506785 (GRCh38)
18:65174022 (GRCh37)
Canonical SPDI:: NC_000018.10:67506784:T:C
Gene:: DSEL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000018.10:g.67506785T>C, NC_000018.9:g.65174022T>C, NW_003315960.1:g.152512T>C, NM_032160.3:c.*4185A>G, NM_032160.2:c.*4185A>G

Select item 148931402310.

rs1489314023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:67517466 (GRCh38)
18:65184703 (GRCh37)
Canonical SPDI:: NC_000018.10:67517465:A:G
Gene:: DSEL (Varview), DSEL-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.67517466A>G, NC_000018.9:g.65184703A>G, NW_003315960.1:g.163193A>G

Select item 148929575311.

rs1489295753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:67507663 (GRCh38)
18:65174900 (GRCh37)
Canonical SPDI:: NC_000018.10:67507662:G:A
Gene:: DSEL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000086/12 (GnomAD)
A=0.000087/23 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000018.10:g.67507663G>A, NC_000018.9:g.65174900G>A, NW_003315960.1:g.153390G>A, NM_032160.3:c.*3307C>T, NM_032160.2:c.*3307C>T

Select item 148913459612.

rs1489134596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:67512108 (GRCh38)
18:65179345 (GRCh37)
Canonical SPDI:: NC_000018.10:67512107:G:A
Gene:: DSEL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.67512108G>A, NC_000018.9:g.65179345G>A, NW_003315960.1:g.157835G>A, NM_032160.3:c.2501C>T, NM_032160.2:c.2531C>T, NP_115536.2:p.Thr834Ile

Select item 148909524613.

rs1489095246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 18:67516848 (GRCh38)
18:65184085 (GRCh37)
Canonical SPDI:: NC_000018.10:67516847:A:C,NC_000018.10:67516847:A:T
Gene:: DSEL (Varview), DSEL-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.00003/4 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000018.10:g.67516848A>C, NC_000018.10:g.67516848A>T, NC_000018.9:g.65184085A>C, NC_000018.9:g.65184085A>T, NW_003315960.1:g.162575A>C, NW_003315960.1:g.162575A>T

Select item 148866375114.

rs1488663751 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 18:67506616 (GRCh38)
18:65173853 (GRCh37)
Canonical SPDI:: NC_000018.10:67506615:C:
Gene:: DSEL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.67506616del, NC_000018.9:g.65173853del, NW_003315960.1:g.152343del, NM_032160.3:c.*4354del, NM_032160.2:c.*4354del

Select item 148850960215.

rs1488509602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:67511070 (GRCh38)
18:65178307 (GRCh37)
Canonical SPDI:: NC_000018.10:67511069:T:C
Gene:: DSEL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.67511070T>C, NC_000018.9:g.65178307T>C, NW_003315960.1:g.156797T>C, NM_032160.3:c.3539A>G, NM_032160.2:c.3569A>G, NP_115536.2:p.Asn1180Ser

Select item 148792692316.

rs1487926923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:67514484 (GRCh38)
18:65181721 (GRCh37)
Canonical SPDI:: NC_000018.10:67514483:A:T
Gene:: DSEL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000018.10:g.67514484A>T, NC_000018.9:g.65181721A>T, NW_003315960.1:g.160211A>T, NM_032160.3:c.125T>A, NM_032160.2:c.155T>A, NP_115536.2:p.Phe42Tyr

Select item 148787354617.

rs1487873546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:67507333 (GRCh38)
18:65174570 (GRCh37)
Canonical SPDI:: NC_000018.10:67507332:T:C
Gene:: DSEL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00031/2 (1000Genomes)
HGVS:: NC_000018.10:g.67507333T>C, NC_000018.9:g.65174570T>C, NW_003315960.1:g.153060T>C, NM_032160.3:c.*3637A>G, NM_032160.2:c.*3637A>G

Select item 148757795518.

rs1487577955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:67508519 (GRCh38)
18:65175756 (GRCh37)
Canonical SPDI:: NC_000018.10:67508518:C:T
Gene:: DSEL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.67508519C>T, NC_000018.9:g.65175756C>T, NW_003315960.1:g.154246C>T, NM_032160.3:c.*2451G>A, NM_032160.2:c.*2451G>A

Select item 148714774719.

rs1487147747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:67509516 (GRCh38)
18:65176753 (GRCh37)
Canonical SPDI:: NC_000018.10:67509515:G:A
Gene:: DSEL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.67509516G>A, NC_000018.9:g.65176753G>A, NW_003315960.1:g.155243G>A, NM_032160.3:c.*1454C>T, NM_032160.2:c.*1454C>T

Select item 148690194620.

rs1486901946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:67509084 (GRCh38)
18:65176321 (GRCh37)
Canonical SPDI:: NC_000018.10:67509083:C:G
Gene:: DSEL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000042/11 (TOPMED)
HGVS:: NC_000018.10:g.67509084C>G, NC_000018.9:g.65176321C>G, NW_003315960.1:g.154811C>G, NM_032160.3:c.*1886G>C, NM_032160.2:c.*1886G>C

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