SNP Links for Gene (Select 103344932) - SNP

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Select item 14915513101.

rs1491551310 has merged into rs3830871 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 2:113542751 (GRCh38)
2:114300328 (GRCh37)
Canonical SPDI:: NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:113542736:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
AC=0.2839/1422 (1000Genomes)
HGVS:: NC_000002.12:g.113542737AC[7], NC_000002.12:g.113542737AC[8], NC_000002.12:g.113542737AC[9], NC_000002.12:g.113542737AC[10], NC_000002.12:g.113542737AC[11], NC_000002.12:g.113542737AC[12], NC_000002.12:g.113542737AC[14], NC_000002.12:g.113542737AC[15], NC_000002.12:g.113542737AC[16], NC_000002.12:g.113542737AC[17], NC_000002.12:g.113542737AC[18], NC_000002.12:g.113542737AC[19], NC_000002.12:g.113542737AC[20], NC_000002.12:g.113542737AC[21], NC_000002.12:g.113542737AC[22], NC_000002.12:g.113542737AC[24], NC_000002.12:g.113542737AC[34], NC_000002.11:g.114300314AC[7], NC_000002.11:g.114300314AC[8], NC_000002.11:g.114300314AC[9], NC_000002.11:g.114300314AC[10], NC_000002.11:g.114300314AC[11], NC_000002.11:g.114300314AC[12], NC_000002.11:g.114300314AC[14], NC_000002.11:g.114300314AC[15], NC_000002.11:g.114300314AC[16], NC_000002.11:g.114300314AC[17], NC_000002.11:g.114300314AC[18], NC_000002.11:g.114300314AC[19], NC_000002.11:g.114300314AC[20], NC_000002.11:g.114300314AC[21], NC_000002.11:g.114300314AC[22], NC_000002.11:g.114300314AC[24], NC_000002.11:g.114300314AC[34]

Select item 14915013332.

rs1491501333 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:113528166 (GRCh38)
2:114285744 (GRCh37)
Canonical SPDI:: NC_000002.12:113528166::A
Gene:: PGM5P4-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
HGVS:: NC_000002.12:g.113528166_113528167insA, NC_000002.11:g.114285743_114285744insA

Select item 14914217823.

rs1491421782 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:113528167 (GRCh38)
2:114285744 (GRCh37)
Canonical SPDI:: NC_000002.12:113528165:TGT:T
Gene:: PGM5P4-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00004/1 (TOMMO)
-=0.05606/359 (1000Genomes)
HGVS:: NC_000002.12:g.113528167_113528168del, NC_000002.11:g.114285744_114285745del

Select item 14913306244.

rs1491330624 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 2:113539871 (GRCh38)
2:114297449 (GRCh37)
Canonical SPDI:: NC_000002.12:113539871:A:AGA
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113539872_113539873insGA, NC_000002.11:g.114297449_114297450insGA

Select item 14912201085.

rs1491220108 has merged into rs56867437 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:113539883 (GRCh38)
2:114297460 (GRCh37)
Canonical SPDI:: NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:113539870:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.113539883_113539891del, NC_000002.12:g.113539884_113539891del, NC_000002.12:g.113539885_113539891del, NC_000002.12:g.113539886_113539891del, NC_000002.12:g.113539887_113539891del, NC_000002.12:g.113539888_113539891del, NC_000002.12:g.113539889_113539891del, NC_000002.12:g.113539890_113539891del, NC_000002.12:g.113539891del, NC_000002.12:g.113539891dup, NC_000002.12:g.113539890_113539891dup, NC_000002.12:g.113539889_113539891dup, NC_000002.12:g.113539888_113539891dup, NC_000002.12:g.113539887_113539891dup, NC_000002.12:g.113539886_113539891dup, NC_000002.12:g.113539885_113539891dup, NC_000002.12:g.113539884_113539891dup, NC_000002.12:g.113539882_113539891dup, NC_000002.12:g.113539880_113539891dup, NC_000002.12:g.113539878_113539891dup, NC_000002.12:g.113539891_113539892insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.114297460_114297468del, NC_000002.11:g.114297461_114297468del, NC_000002.11:g.114297462_114297468del, NC_000002.11:g.114297463_114297468del, NC_000002.11:g.114297464_114297468del, NC_000002.11:g.114297465_114297468del, NC_000002.11:g.114297466_114297468del, NC_000002.11:g.114297467_114297468del, NC_000002.11:g.114297468del, NC_000002.11:g.114297468dup, NC_000002.11:g.114297467_114297468dup, NC_000002.11:g.114297466_114297468dup, NC_000002.11:g.114297465_114297468dup, NC_000002.11:g.114297464_114297468dup, NC_000002.11:g.114297463_114297468dup, NC_000002.11:g.114297462_114297468dup, NC_000002.11:g.114297461_114297468dup, NC_000002.11:g.114297459_114297468dup, NC_000002.11:g.114297457_114297468dup, NC_000002.11:g.114297455_114297468dup, NC_000002.11:g.114297468_114297469insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911529456.

rs1491152945 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:113538142 (GRCh38)
2:114295719 (GRCh37)
Canonical SPDI:: NC_000002.12:113538141:TA:
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.06183/1747 (TOMMO)
HGVS:: NC_000002.12:g.113538142_113538143del, NC_000002.11:g.114295719_114295720del

Select item 14909531497.

rs1490953149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113530992 (GRCh38)
2:114288569 (GRCh37)
Canonical SPDI:: NC_000002.12:113530991:C:T
Gene:: PGM5P4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113530992C>T, NC_000002.11:g.114288569C>T

Select item 14909253718.

rs1490925371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113532029 (GRCh38)
2:114289606 (GRCh37)
Canonical SPDI:: NC_000002.12:113532028:T:C
Gene:: PGM5P4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113532029T>C, NC_000002.11:g.114289606T>C

Select item 14908151919.

rs1490815191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113537504 (GRCh38)
2:114295081 (GRCh37)
Canonical SPDI:: NC_000002.12:113537503:G:A
Gene:: PGM5P4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.113537504G>A, NC_000002.11:g.114295081G>A

Select item 149076685310.

rs1490766853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:113535583 (GRCh38)
2:114293160 (GRCh37)
Canonical SPDI:: NC_000002.12:113535582:G:T
Gene:: PGM5P4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.113535583G>T, NC_000002.11:g.114293160G>T

Select item 149046150111.

rs1490461501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113531432 (GRCh38)
2:114289009 (GRCh37)
Canonical SPDI:: NC_000002.12:113531431:G:A
Gene:: PGM5P4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113531432G>A, NC_000002.11:g.114289009G>A

Select item 149020451912.

rs1490204519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:113539008 (GRCh38)
2:114296585 (GRCh37)
Canonical SPDI:: NC_000002.12:113539007:C:A,NC_000002.12:113539007:C:T
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00016/1 (1000Genomes)
T=0.00036/6 (TOMMO)
HGVS:: NC_000002.12:g.113539008C>A, NC_000002.12:g.113539008C>T, NC_000002.11:g.114296585C>A, NC_000002.11:g.114296585C>T

Select item 148999784513.

rs1489997845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113534357 (GRCh38)
2:114291934 (GRCh37)
Canonical SPDI:: NC_000002.12:113534356:C:T
Gene:: PGM5P4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.113534357C>T, NC_000002.11:g.114291934C>T

Select item 148999704214.

rs1489997042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:113536620 (GRCh38)
2:114294197 (GRCh37)
Canonical SPDI:: NC_000002.12:113536619:T:G
Gene:: PGM5P4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113536620T>G, NC_000002.11:g.114294197T>G

Select item 148975049915.

rs1489750499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:113533298 (GRCh38)
2:114290875 (GRCh37)
Canonical SPDI:: NC_000002.12:113533297:A:C
Gene:: PGM5P4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113533298A>C, NC_000002.11:g.114290875A>C

Select item 148969212716.

rs1489692127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113540156 (GRCh38)
2:114297733 (GRCh37)
Canonical SPDI:: NC_000002.12:113540155:A:G
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview), LOC124908046 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.113540156A>G, NC_000002.11:g.114297733A>G, XM_047446881.1:c.*606T>C, NR_121187.1:n.458T>C

Select item 148944609717.

rs1489446097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:113532337 (GRCh38)
2:114289914 (GRCh37)
Canonical SPDI:: NC_000002.12:113532336:G:A,NC_000002.12:113532336:G:C,NC_000002.12:113532336:G:T
Gene:: PGM5P4-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.113532337G>A, NC_000002.12:g.113532337G>C, NC_000002.12:g.113532337G>T, NC_000002.11:g.114289914G>A, NC_000002.11:g.114289914G>C, NC_000002.11:g.114289914G>T

Select item 148928623818.

rs1489286238 [Homo sapiens]

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

Select item 148879946819.

rs1488799468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:113544570 (GRCh38)
2:114302147 (GRCh37)
Canonical SPDI:: NC_000002.12:113544569:C:G
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.113544570C>G, NC_000002.11:g.114302147C>G

Select item 148840044420.

rs1488400444 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:113538176 (GRCh38)
2:114295753 (GRCh37)
Canonical SPDI:: NC_000002.12:113538175:T:
Gene:: PGM5P4 (Varview), PGM5P4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.113538176del, NC_000002.11:g.114295753del

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