SNP Links for Gene (Select 105371642) - SNP

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Items: 1 to 20 of 2354

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Select item 14915705271.

rs1491570527 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:182109765 (GRCh38)
1:182078900 (GRCh37)
Canonical SPDI:: NC_000001.11:182109764:CA:
Gene:: LOC105371642 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00076/9 (ALFA)
-=0.00089/25 (TOMMO)
HGVS:: NC_000001.11:g.182109765_182109766del, NC_000001.10:g.182078900_182078901del

Select item 14911600372.

rs1491160037 has merged into rs35755032 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:182109774 (GRCh38)
1:182078909 (GRCh37)
Canonical SPDI:: NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:182109765:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC105371642 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.182109774_182109788del, NC_000001.11:g.182109776_182109788del, NC_000001.11:g.182109778_182109788del, NC_000001.11:g.182109779_182109788del, NC_000001.11:g.182109780_182109788del, NC_000001.11:g.182109781_182109788del, NC_000001.11:g.182109783_182109788del, NC_000001.11:g.182109784_182109788del, NC_000001.11:g.182109785_182109788del, NC_000001.11:g.182109786_182109788del, NC_000001.11:g.182109787_182109788del, NC_000001.11:g.182109788del, NC_000001.11:g.182109788dup, NC_000001.11:g.182109787_182109788dup, NC_000001.10:g.182078909_182078923del, NC_000001.10:g.182078911_182078923del, NC_000001.10:g.182078913_182078923del, NC_000001.10:g.182078914_182078923del, NC_000001.10:g.182078915_182078923del, NC_000001.10:g.182078916_182078923del, NC_000001.10:g.182078918_182078923del, NC_000001.10:g.182078919_182078923del, NC_000001.10:g.182078920_182078923del, NC_000001.10:g.182078921_182078923del, NC_000001.10:g.182078922_182078923del, NC_000001.10:g.182078923del, NC_000001.10:g.182078923dup, NC_000001.10:g.182078922_182078923dup

Select item 14908019003.

rs1490801900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:182108866 (GRCh38)
1:182078001 (GRCh37)
Canonical SPDI:: NC_000001.11:182108865:G:A,NC_000001.11:182108865:G:T
Gene:: LOC105371642 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182108866G>A, NC_000001.11:g.182108866G>T, NC_000001.10:g.182078001G>A, NC_000001.10:g.182078001G>T

Select item 14907476884.

rs1490747688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:182116914 (GRCh38)
1:182086049 (GRCh37)
Canonical SPDI:: NC_000001.11:182116913:T:C
Gene:: LOC105371642 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182116914T>C, NC_000001.10:g.182086049T>C

Select item 14907330895.

rs1490733089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:182115619 (GRCh38)
1:182084754 (GRCh37)
Canonical SPDI:: NC_000001.11:182115618:A:C
Gene:: LOC105371642 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182115619A>C, NC_000001.10:g.182084754A>C

Select item 14906620866.

rs1490662086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:182112660 (GRCh38)
1:182081795 (GRCh37)
Canonical SPDI:: NC_000001.11:182112659:A:G
Gene:: LOC105371642 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182112660A>G, NC_000001.10:g.182081795A>G

Select item 14906369027.

rs1490636902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:182109741 (GRCh38)
1:182078876 (GRCh37)
Canonical SPDI:: NC_000001.11:182109740:A:C,NC_000001.11:182109740:A:G
Gene:: LOC105371642 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.182109741A>C, NC_000001.11:g.182109741A>G, NC_000001.10:g.182078876A>C, NC_000001.10:g.182078876A>G

Select item 14898451348.

rs1489845134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:182113567 (GRCh38)
1:182082702 (GRCh37)
Canonical SPDI:: NC_000001.11:182113566:G:A
Gene:: LOC105371642 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000045/12 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.182113567G>A, NC_000001.10:g.182082702G>A

Select item 14898041989.

rs1489804198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:182108294 (GRCh38)
1:182077429 (GRCh37)
Canonical SPDI:: NC_000001.11:182108293:T:C
Gene:: LOC105371642 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000076/20 (TOPMED)
HGVS:: NC_000001.11:g.182108294T>C, NC_000001.10:g.182077429T>C

Select item 148950678810.

rs1489506788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:182109957 (GRCh38)
1:182079092 (GRCh37)
Canonical SPDI:: NC_000001.11:182109956:G:A
Gene:: LOC105371642 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.182109957G>A, NC_000001.10:g.182079092G>A

Select item 148950053411.

rs1489500534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:182109119 (GRCh38)
1:182078254 (GRCh37)
Canonical SPDI:: NC_000001.11:182109118:T:A
Gene:: LOC105371642 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.182109119T>A, NC_000001.10:g.182078254T>A

Select item 148943657412.

rs1489436574 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:182111610 (GRCh38)
1:182080745 (GRCh37)
Canonical SPDI:: NC_000001.11:182111607:AGAG:AG
Gene:: LOC105371642 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182111608AG[1], NC_000001.10:g.182080743AG[1]

Select item 148936479913.

rs1489364799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:182113899 (GRCh38)
1:182083034 (GRCh37)
Canonical SPDI:: NC_000001.11:182113898:T:G
Gene:: LOC105371642 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.182113899T>G, NC_000001.10:g.182083034T>G

Select item 148898445914.

rs1488984459 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:182110480 (GRCh38)
1:182079615 (GRCh37)
Canonical SPDI:: NC_000001.11:182110478:GGG:G
Gene:: LOC105371642 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.182110480_182110481del, NC_000001.10:g.182079615_182079616del

Select item 148795478215.

rs1487954782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:182118008 (GRCh38)
1:182087143 (GRCh37)
Canonical SPDI:: NC_000001.11:182118007:C:G,NC_000001.11:182118007:C:T
Gene:: LOC105371642 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000142/2 (TOMMO)
G=0.000156/1 (1000Genomes)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.182118008C>G, NC_000001.11:g.182118008C>T, NC_000001.10:g.182087143C>G, NC_000001.10:g.182087143C>T, XR_922341.3:n.740C>G, XR_922341.3:n.740C>T, XR_922341.2:n.933C>G, XR_922341.2:n.933C>T

Select item 148795115316.

rs1487951153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:182109012 (GRCh38)
1:182078147 (GRCh37)
Canonical SPDI:: NC_000001.11:182109011:C:T
Gene:: LOC105371642 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.182109012C>T, NC_000001.10:g.182078147C>T

Select item 148734627317.

rs1487346273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:182109880 (GRCh38)
1:182079015 (GRCh37)
Canonical SPDI:: NC_000001.11:182109879:T:C
Gene:: LOC105371642 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182109880T>C, NC_000001.10:g.182079015T>C

Select item 148726607518.

rs1487266075 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:182118787 (GRCh38)
1:182087922 (GRCh37)
Canonical SPDI:: NC_000001.11:182118786:A:C
Gene:: LOC105371642 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.182118787A>C, NC_000001.10:g.182087922A>C

Select item 148712217319.

rs1487122173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:182118057 (GRCh38)
1:182087192 (GRCh37)
Canonical SPDI:: NC_000001.11:182118056:A:G
Gene:: LOC105371642 (Varview)
Functional Consequence:: non_coding_transcript_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.182118057A>G, NC_000001.10:g.182087192A>G, XR_922341.3:n.789A>G, XR_922341.2:n.982A>G

Select item 148659876520.

rs1486598765 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:182118198 (GRCh38)
1:182087333 (GRCh37)
Canonical SPDI:: NC_000001.11:182118197:T:C,NC_000001.11:182118197:T:G
Gene:: LOC105371642 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182118198T>C, NC_000001.11:g.182118198T>G, NC_000001.10:g.182087333T>C, NC_000001.10:g.182087333T>G, XR_922341.3:n.930T>C, XR_922341.3:n.930T>G, XR_922341.2:n.1123T>C, XR_922341.2:n.1123T>G

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