SNP Links for Gene (Select 89766) - SNP

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Items: 1 to 20 of 21020

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Select item 14915443251.

rs1491544325 has merged into rs35546438 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 21:42075248 (GRCh38)
21:43495357 (GRCh37)
Canonical SPDI:: NC_000021.9:42075241:GGGGGGGGGG:GGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000021.9:42075241:GGGGGGGGGG:GGGGGGGGGGGGGG
Gene:: UMODL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
G=0.07548/378 (1000Genomes)
HGVS:: NC_000021.9:g.42075248_42075251del, NC_000021.9:g.42075250_42075251del, NC_000021.9:g.42075251del, NC_000021.9:g.42075251dup, NC_000021.9:g.42075250_42075251dup, NC_000021.9:g.42075249_42075251dup, NC_000021.9:g.42075248_42075251dup, NC_000021.8:g.43495357_43495360del, NC_000021.8:g.43495359_43495360del, NC_000021.8:g.43495360del, NC_000021.8:g.43495360dup, NC_000021.8:g.43495359_43495360dup, NC_000021.8:g.43495358_43495360dup, NC_000021.8:g.43495357_43495360dup, NG_055246.1:g.17290_17293del, NG_055246.1:g.17292_17293del, NG_055246.1:g.17293del, NG_055246.1:g.17293dup, NG_055246.1:g.17292_17293dup, NG_055246.1:g.17291_17293dup, NG_055246.1:g.17290_17293dup

Select item 14915089642.

rs1491508964 has merged into rs72241179 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTG>-,TG,TGTG,TGTGTGTG [Show Flanks]
Chromosome:: 21:42073017 (GRCh38)
21:43493126 (GRCh37)
Canonical SPDI:: NC_000021.9:42073007:GTGTGTGTGTGTGTG:GTGTGTGTG,NC_000021.9:42073007:GTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000021.9:42073007:GTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000021.9:42073007:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG
Gene:: UMODL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.178256/687 (ALSPAC)
GT=0.296126/1483 (1000Genomes)
GT=0.332812/88092 (TOPMED)
-=0.453603/831 (Korea1K)
HGVS:: NC_000021.9:g.42073009TG[4], NC_000021.9:g.42073009TG[5], NC_000021.9:g.42073009TG[6], NC_000021.9:g.42073009TG[8], NC_000021.8:g.43493118TG[4], NC_000021.8:g.43493118TG[5], NC_000021.8:g.43493118TG[6], NC_000021.8:g.43493118TG[8], NG_055246.1:g.15051TG[4], NG_055246.1:g.15051TG[5], NG_055246.1:g.15051TG[6], NG_055246.1:g.15051TG[8]

Select item 14912353293.

rs1491235329 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 21:42073032 (GRCh38)
21:43493142 (GRCh37)
Canonical SPDI:: NC_000021.9:42073032::CA
Gene:: UMODL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: CA=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42073032_42073033insCA, NC_000021.8:g.43493141_43493142insCA, NG_055246.1:g.15074_15075insCA

Select item 14911666114.

rs1491166611 has merged into rs11322789 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 21:42092866 (GRCh38)
21:43512976 (GRCh37)
Canonical SPDI:: NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: UMODL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.1425/914 (ALFA)
T=0.4633/1715 (1000Genomes)
HGVS:: NC_000021.9:g.42092866_42092867del, NC_000021.9:g.42092867del, NC_000021.9:g.42092867dup, NC_000021.9:g.42092866_42092867dup, NC_000021.9:g.42092867_42092868insTTTTTTTTTTTT, NC_000021.8:g.43512976_43512977del, NC_000021.8:g.43512977del, NC_000021.8:g.43512977dup, NC_000021.8:g.43512976_43512977dup, NC_000021.8:g.43512977_43512978insTTTTTTTTTTTT, NG_055246.1:g.34908_34909del, NG_055246.1:g.34909del, NG_055246.1:g.34909dup, NG_055246.1:g.34908_34909dup, NG_055246.1:g.34909_34910insTTTTTTTTTTTT

Select item 14910261095.

rs1491026109 has merged into rs1555933416 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>-,CGCG,CGCGCG,CGCGCGCG [Show Flanks]
Chromosome:: 21:42130247 (GRCh38)
21:43550357 (GRCh37)
Canonical SPDI:: NC_000021.9:42130245:GCG:G,NC_000021.9:42130245:GCG:GCGCG,NC_000021.9:42130245:GCG:GCGCGCG,NC_000021.9:42130245:GCG:GCGCGCGCG
Gene:: UMODL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCG=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000021.9:g.42130247_42130248del, NC_000021.9:g.42130247_42130248dup, NC_000021.9:g.42130247CG[3], NC_000021.9:g.42130247CG[4], NC_000021.8:g.43550357_43550358del, NC_000021.8:g.43550357_43550358dup, NC_000021.8:g.43550357CG[3], NC_000021.8:g.43550357CG[4], NG_055246.1:g.72289_72290del, NG_055246.1:g.72289_72290dup, NG_055246.1:g.72289CG[3], NG_055246.1:g.72289CG[4]

Select item 14910219186.

rs1491021918 has merged into rs11322789 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 21:42092866 (GRCh38)
21:43512976 (GRCh37)
Canonical SPDI:: NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:42092857:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: UMODL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.1425/914 (ALFA)
T=0.4633/1715 (1000Genomes)
HGVS:: NC_000021.9:g.42092866_42092867del, NC_000021.9:g.42092867del, NC_000021.9:g.42092867dup, NC_000021.9:g.42092866_42092867dup, NC_000021.9:g.42092867_42092868insTTTTTTTTTTTT, NC_000021.8:g.43512976_43512977del, NC_000021.8:g.43512977del, NC_000021.8:g.43512977dup, NC_000021.8:g.43512976_43512977dup, NC_000021.8:g.43512977_43512978insTTTTTTTTTTTT, NG_055246.1:g.34908_34909del, NG_055246.1:g.34909del, NG_055246.1:g.34909dup, NG_055246.1:g.34908_34909dup, NG_055246.1:g.34909_34910insTTTTTTTTTTTT

Select item 14909532077.

rs1490953207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42072187 (GRCh38)
21:43492296 (GRCh37)
Canonical SPDI:: NC_000021.9:42072186:T:C
Gene:: UMODL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.42072187T>C, NC_000021.8:g.43492296T>C, NG_055246.1:g.14229T>C

Select item 14909145808.

rs1490914580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42086753 (GRCh38)
21:43506863 (GRCh37)
Canonical SPDI:: NC_000021.9:42086752:G:A
Gene:: UMODL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.42086753G>A, NC_000021.8:g.43506863G>A, NG_055246.1:g.28795G>A

Select item 14909081459.

rs1490908145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42073025 (GRCh38)
21:43493134 (GRCh37)
Canonical SPDI:: NC_000021.9:42073024:C:T
Gene:: UMODL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00006/16 (TOPMED)
HGVS:: NC_000021.9:g.42073025C>T, NC_000021.8:g.43493134C>T, NG_055246.1:g.15067C>T

Select item 149088156810.

rs1490881568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:42138861 (GRCh38)
21:43558971 (GRCh37)
Canonical SPDI:: NC_000021.9:42138860:C:G
Gene:: UMODL1 (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_000021.9:g.42138861C>G, NC_000021.8:g.43558971C>G, NG_055246.1:g.80903C>G

Select item 149087633211.

rs1490876332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:42117508 (GRCh38)
21:43537618 (GRCh37)
Canonical SPDI:: NC_000021.9:42117507:G:T
Gene:: UMODL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42117508G>T, NC_000021.8:g.43537618G>T, NG_055246.1:g.59550G>T

Select item 149086467412.

rs1490864674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42084815 (GRCh38)
21:43504925 (GRCh37)
Canonical SPDI:: NC_000021.9:42084814:C:T
Gene:: UMODL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000027/1 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000021.9:g.42084815C>T, NC_000021.8:g.43504925C>T, NG_055246.1:g.26857C>T

Select item 149085784213.

rs1490857842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42089234 (GRCh38)
21:43509344 (GRCh37)
Canonical SPDI:: NC_000021.9:42089233:G:A
Gene:: UMODL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00022/1 (ALFA)
A=0.00004/1 (TOMMO)
A=0.00022/1 (Estonian)
HGVS:: NC_000021.9:g.42089234G>A, NC_000021.8:g.43509344G>A, NG_055246.1:g.31276G>A

Select item 149084860014.

rs1490848600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42125907 (GRCh38)
21:43546017 (GRCh37)
Canonical SPDI:: NC_000021.9:42125906:C:T
Gene:: UMODL1 (Varview)
Functional Consequence:: intron_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_000021.9:g.42125907C>T, NC_000021.8:g.43546017C>T, NG_055246.1:g.67949C>T

Select item 149084840515.

rs1490848405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:42085873 (GRCh38)
21:43505983 (GRCh37)
Canonical SPDI:: NC_000021.9:42085872:G:C
Gene:: UMODL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000021.9:g.42085873G>C, NC_000021.8:g.43505983G>C, NG_055246.1:g.27915G>C

Select item 149083565416.

rs1490835654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42074220 (GRCh38)
21:43494329 (GRCh37)
Canonical SPDI:: NC_000021.9:42074219:T:C
Gene:: UMODL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42074220T>C, NC_000021.8:g.43494329T>C, NG_055246.1:g.16262T>C

Select item 149082122217.

rs1490821222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42099499 (GRCh38)
21:43519609 (GRCh37)
Canonical SPDI:: NC_000021.9:42099498:A:G
Gene:: UMODL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.42099499A>G, NC_000021.8:g.43519609A>G, NG_055246.1:g.41541A>G

Select item 149081262518.

rs1490812625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:42125124 (GRCh38)
21:43545234 (GRCh37)
Canonical SPDI:: NC_000021.9:42125123:C:G
Gene:: UMODL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.42125124C>G, NC_000021.8:g.43545234C>G, NG_055246.1:g.67166C>G

Select item 149079948419.

rs1490799484 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42112557 (GRCh38)
21:43532667 (GRCh37)
Canonical SPDI:: NC_000021.9:42112556:C:T
Gene:: UMODL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.42112557C>T, NC_000021.8:g.43532667C>T, NG_055246.1:g.54599C>T

Select item 149069465520.

rs1490694655 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42065892 (GRCh38)
21:43486001 (GRCh37)
Canonical SPDI:: NC_000021.9:42065891:T:C
Gene:: UMODL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.42065892T>C, NC_000021.8:g.43486001T>C, NG_055246.1:g.7934T>C

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