SNP Links for Nucleotide (Select 566006145) - SNP

Links from Nucleotide

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Select item 14896497131.

rs1489649713 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:48108635 (GRCh38)
7:48148233 (GRCh37)
Canonical SPDI:: NC_000007.14:48108635:AAAA:AAAAA
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.48108639dup, NC_000007.13:g.48148236dup, NG_051802.1:g.25037dup, NM_003364.4:c.*282dup, NM_003364.3:c.*282dup, NM_003364.2:c.*282dup, NM_001362774.2:c.*282dup, NM_001362774.1:c.*282dup, NM_001287426.2:c.*282dup, NM_001287426.1:c.*282dup, NM_001287428.2:c.*282dup, NM_001287428.1:c.*282dup, NM_001287429.2:c.*282dup, NM_001287429.1:c.*282dup, NR_109837.1:n.1171dup, NM_001287430.1:c.*282dup, XM_011515512.3:c.*282dup, XM_011515513.3:c.*282dup, XM_011515514.3:c.*282dup, NM_181597.1:c.*282dup, XM_047420797.1:c.*282dup

Select item 14895761112.

rs1489576111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:48089260 (GRCh38)
7:48128857 (GRCh37)
Canonical SPDI:: NC_000007.14:48089259:C:A,NC_000007.14:48089259:C:T
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.48089260C>A, NC_000007.14:g.48089260C>T, NC_000007.13:g.48128857C>A, NC_000007.13:g.48128857C>T, NG_051802.1:g.5658C>A, NG_051802.1:g.5658C>T, NM_001362774.2:c.-357C>A, NM_001362774.2:c.-357C>T, NM_001362774.1:c.-357C>A, NM_001362774.1:c.-357C>T, NM_001287426.2:c.-295C>A, NM_001287426.2:c.-295C>T, NM_001287426.1:c.-295C>A, NM_001287426.1:c.-295C>T, NR_109837.1:n.7C>A, NR_109837.1:n.7C>T, NM_001287430.1:c.-314C>A, NM_001287430.1:c.-314C>T, NM_003364.3:c.-357C>A, NM_003364.3:c.-357C>T, XM_011515513.3:c.-376C>A, XM_011515513.3:c.-376C>T, XM_011515513.2:c.-376C>A, XM_011515513.2:c.-376C>T, XM_011515513.1:c.-376C>A, XM_011515513.1:c.-376C>T, XM_011515514.3:c.-314C>A, XM_011515514.3:c.-314C>T, XM_011515514.2:c.-314C>A, XM_011515514.2:c.-314C>T, XM_011515514.1:c.-314C>A, XM_011515514.1:c.-314C>T, NM_003364.2:c.-357C>A, NM_003364.2:c.-357C>T, NM_181597.1:c.-357C>A, NM_181597.1:c.-357C>T, XM_047420797.1:c.-369C>A, XM_047420797.1:c.-369C>T, NM_001287429.1:c.-376C>A, NM_001287429.1:c.-376C>T, XM_047420798.1:c.-357C>A, XM_047420798.1:c.-357C>T, XM_047420799.1:c.-295C>A, XM_047420799.1:c.-295C>T

Select item 14866830943.

rs1486683094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:48108508 (GRCh38)
7:48148105 (GRCh37)
Canonical SPDI:: NC_000007.14:48108507:G:A,NC_000007.14:48108507:G:T
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.48108508G>A, NC_000007.14:g.48108508G>T, NC_000007.13:g.48148105G>A, NC_000007.13:g.48148105G>T, NG_051802.1:g.24906G>A, NG_051802.1:g.24906G>T, NM_003364.4:c.*151G>A, NM_003364.4:c.*151G>T, NM_003364.3:c.*151G>A, NM_003364.3:c.*151G>T, NM_003364.2:c.*151G>A, NM_003364.2:c.*151G>T, NM_001362774.2:c.*151G>A, NM_001362774.2:c.*151G>T, NM_001362774.1:c.*151G>A, NM_001362774.1:c.*151G>T, NM_001287426.2:c.*151G>A, NM_001287426.2:c.*151G>T, NM_001287426.1:c.*151G>A, NM_001287426.1:c.*151G>T, NM_001287428.2:c.*151G>A, NM_001287428.2:c.*151G>T, NM_001287428.1:c.*151G>A, NM_001287428.1:c.*151G>T, NM_001287429.2:c.*151G>A, NM_001287429.2:c.*151G>T, NM_001287429.1:c.*151G>A, NM_001287429.1:c.*151G>T, NR_109837.1:n.1040G>A, NR_109837.1:n.1040G>T, NM_001287430.1:c.*151G>A, NM_001287430.1:c.*151G>T, XM_011515512.3:c.*151G>A, XM_011515512.3:c.*151G>T, XM_011515513.3:c.*151G>A, XM_011515513.3:c.*151G>T, XM_011515514.3:c.*151G>A, XM_011515514.3:c.*151G>T, NM_181597.1:c.*151G>A, NM_181597.1:c.*151G>T, XM_047420797.1:c.*151G>A, XM_047420797.1:c.*151G>T

Select item 14845422114.

rs1484542211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:48090337 (GRCh38)
7:48129934 (GRCh37)
Canonical SPDI:: NC_000007.14:48090336:G:C
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.48090337G>C, NC_000007.13:g.48129934G>C, NG_051802.1:g.6735G>C, NM_003364.4:c.-49G>C, NM_003364.3:c.-49G>C, NM_003364.2:c.-49G>C, NM_001362774.2:c.-49G>C, NM_001362774.1:c.-49G>C, NM_001287426.2:c.-49G>C, NM_001287426.1:c.-49G>C, NM_001287428.2:c.-68G>C, NM_001287428.1:c.-68G>C, NM_001287429.2:c.-68G>C, NM_001287429.1:c.-68G>C, NR_109837.1:n.253G>C, NM_001287430.1:c.-68G>C, XM_011515512.3:c.-49G>C, XM_011515512.2:c.-49G>C, XM_011515512.1:c.-49G>C, XM_011515513.3:c.-68G>C, XM_011515513.2:c.-68G>C, XM_011515513.1:c.-68G>C, XM_011515514.3:c.-68G>C, XM_011515514.2:c.-68G>C, XM_011515514.1:c.-68G>C, NM_181597.1:c.-49G>C, XM_047420797.1:c.-123G>C, XM_047420798.1:c.-49G>C, XM_047420799.1:c.-49G>C

Select item 14831166165.

rs1483116616 [Homo sapiens]

Variant type:: DEL
Alleles:: CTA>- [Show Flanks]
Chromosome:: 7:48107075 (GRCh38)
7:48146672 (GRCh37)
Canonical SPDI:: NC_000007.14:48107074:CTA:
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.48107075_48107077del, NC_000007.13:g.48146672_48146674del, NG_051802.1:g.23473_23475del, NM_003364.4:c.639_641del, NM_003364.3:c.639_641del, NM_003364.2:c.639_641del, NM_001362774.2:c.639_641del, NM_001362774.1:c.639_641del, NM_001287426.2:c.639_641del, NM_001287426.1:c.639_641del, NM_001287428.2:c.228_230del, NM_001287428.1:c.228_230del, NM_001287429.2:c.228_230del, NM_001287429.1:c.228_230del, NR_109837.1:n.595_597del, NM_001287430.1:c.228_230del, XM_011515512.3:c.639_641del, XM_011515512.2:c.639_641del, XM_011515512.1:c.639_641del, XM_011515513.3:c.390_392del, XM_011515513.2:c.390_392del, XM_011515513.1:c.390_392del, XM_011515514.3:c.390_392del, XM_011515514.2:c.390_392del, XM_011515514.1:c.390_392del, NM_181597.1:c.639_641del, XM_047420797.1:c.447_449del, NP_003355.1:p.Tyr214del, NP_001349703.1:p.Tyr214del, NP_001274355.1:p.Tyr214del, NP_001274357.1:p.Tyr77del, NP_001274358.1:p.Tyr77del, NP_001274359.1:p.Tyr77del, XP_011513814.1:p.Tyr214del, XP_011513815.1:p.Tyr131del, XP_011513816.1:p.Tyr131del, XP_047276753.1:p.Tyr150del

Select item 14825196726.

rs1482519672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:48107063 (GRCh38)
7:48146660 (GRCh37)
Canonical SPDI:: NC_000007.14:48107062:C:T
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.48107063C>T, NC_000007.13:g.48146660C>T, NG_051802.1:g.23461C>T, NM_003364.4:c.627C>T, NM_003364.3:c.627C>T, NM_003364.2:c.627C>T, NM_001362774.2:c.627C>T, NM_001362774.1:c.627C>T, NM_001287426.2:c.627C>T, NM_001287426.1:c.627C>T, NM_001287428.2:c.216C>T, NM_001287428.1:c.216C>T, NM_001287429.2:c.216C>T, NM_001287429.1:c.216C>T, NR_109837.1:n.583C>T, NM_001287430.1:c.216C>T, XM_011515512.3:c.627C>T, XM_011515512.2:c.627C>T, XM_011515512.1:c.627C>T, XM_011515513.3:c.378C>T, XM_011515513.2:c.378C>T, XM_011515513.1:c.378C>T, XM_011515514.3:c.378C>T, XM_011515514.2:c.378C>T, XM_011515514.1:c.378C>T, NM_181597.1:c.627C>T, XM_047420797.1:c.435C>T

Select item 14815774577.

rs1481577457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:48090255 (GRCh38)
7:48129852 (GRCh37)
Canonical SPDI:: NC_000007.14:48090254:G:A
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.48090255G>A, NC_000007.13:g.48129852G>A, NG_051802.1:g.6653G>A, NM_003364.4:c.-131G>A, NM_003364.3:c.-131G>A, NM_003364.2:c.-131G>A, NM_001362774.2:c.-131G>A, NM_001362774.1:c.-131G>A, NM_001287426.2:c.-131G>A, NM_001287426.1:c.-131G>A, NM_001287428.2:c.-150G>A, NM_001287428.1:c.-150G>A, NM_001287429.2:c.-150G>A, NM_001287429.1:c.-150G>A, NR_109837.1:n.171G>A, NM_001287430.1:c.-150G>A, XM_011515512.3:c.-131G>A, XM_011515512.2:c.-131G>A, XM_011515512.1:c.-131G>A, XM_011515513.3:c.-150G>A, XM_011515513.2:c.-150G>A, XM_011515513.1:c.-150G>A, XM_011515514.3:c.-150G>A, XM_011515514.2:c.-150G>A, XM_011515514.1:c.-150G>A, NM_181597.1:c.-131G>A, XM_047420797.1:c.-205G>A, XM_047420798.1:c.-131G>A, XM_047420799.1:c.-131G>A

Select item 14781595318.

rs1478159531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:48090317 (GRCh38)
7:48129914 (GRCh37)
Canonical SPDI:: NC_000007.14:48090316:G:T
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.48090317G>T, NC_000007.13:g.48129914G>T, NG_051802.1:g.6715G>T, NM_003364.4:c.-69G>T, NM_003364.3:c.-69G>T, NM_003364.2:c.-69G>T, NM_001362774.2:c.-69G>T, NM_001362774.1:c.-69G>T, NM_001287426.2:c.-69G>T, NM_001287426.1:c.-69G>T, NM_001287428.2:c.-88G>T, NM_001287428.1:c.-88G>T, NM_001287429.2:c.-88G>T, NM_001287429.1:c.-88G>T, NR_109837.1:n.233G>T, NM_001287430.1:c.-88G>T, XM_011515512.3:c.-69G>T, XM_011515512.2:c.-69G>T, XM_011515512.1:c.-69G>T, XM_011515513.3:c.-88G>T, XM_011515513.2:c.-88G>T, XM_011515513.1:c.-88G>T, XM_011515514.3:c.-88G>T, XM_011515514.2:c.-88G>T, XM_011515514.1:c.-88G>T, NM_181597.1:c.-69G>T, XM_047420797.1:c.-143G>T, XM_047420798.1:c.-69G>T, XM_047420799.1:c.-69G>T

Select item 14780379509.

rs1478037950 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 7:48107453 (GRCh38)
7:48147050 (GRCh37)
Canonical SPDI:: NC_000007.14:48107452:A:
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.48107453del, NC_000007.13:g.48147050del, NG_051802.1:g.23851del, NM_003364.4:c.739del, NM_003364.3:c.739del, NM_003364.2:c.739del, NM_001362774.2:c.739del, NM_001362774.1:c.739del, NM_001287426.2:c.739del, NM_001287426.1:c.739del, NM_001287428.2:c.328del, NM_001287428.1:c.328del, NM_001287429.2:c.328del, NM_001287429.1:c.328del, NR_109837.1:n.695del, NM_001287430.1:c.328del, XM_011515512.3:c.739del, XM_011515512.2:c.739del, XM_011515512.1:c.739del, XM_011515513.3:c.490del, XM_011515513.2:c.490del, XM_011515513.1:c.490del, XM_011515514.3:c.490del, XM_011515514.2:c.490del, XM_011515514.1:c.490del, NM_181597.1:c.739del, XM_047420797.1:c.547del, NP_003355.1:p.Ile247fs, NP_001349703.1:p.Ile247fs, NP_001274355.1:p.Ile247fs, NP_001274357.1:p.Ile110fs, NP_001274358.1:p.Ile110fs, NP_001274359.1:p.Ile110fs, XP_011513814.1:p.Ile247fs, XP_011513815.1:p.Ile164fs, XP_011513816.1:p.Ile164fs, XP_047276753.1:p.Ile183fs

Select item 147567308810.

rs1475673088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:48089288 (GRCh38)
7:48128885 (GRCh37)
Canonical SPDI:: NC_000007.14:48089287:C:A,NC_000007.14:48089287:C:T
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.48089288C>A, NC_000007.14:g.48089288C>T, NC_000007.13:g.48128885C>A, NC_000007.13:g.48128885C>T, NG_051802.1:g.5686C>A, NG_051802.1:g.5686C>T, NM_003364.4:c.-329C>A, NM_003364.4:c.-329C>T, NM_003364.3:c.-329C>A, NM_003364.3:c.-329C>T, NM_003364.2:c.-329C>A, NM_003364.2:c.-329C>T, NM_001362774.2:c.-329C>A, NM_001362774.2:c.-329C>T, NM_001362774.1:c.-329C>A, NM_001362774.1:c.-329C>T, NM_001287426.2:c.-267C>A, NM_001287426.2:c.-267C>T, NM_001287426.1:c.-267C>A, NM_001287426.1:c.-267C>T, NM_001287428.2:c.-348C>A, NM_001287428.2:c.-348C>T, NM_001287428.1:c.-348C>A, NM_001287428.1:c.-348C>T, NM_001287429.2:c.-348C>A, NM_001287429.2:c.-348C>T, NM_001287429.1:c.-348C>A, NM_001287429.1:c.-348C>T, NR_109837.1:n.35C>A, NR_109837.1:n.35C>T, NM_001287430.1:c.-286C>A, NM_001287430.1:c.-286C>T, XM_011515513.3:c.-348C>A, XM_011515513.3:c.-348C>T, XM_011515513.2:c.-348C>A, XM_011515513.2:c.-348C>T, XM_011515513.1:c.-348C>A, XM_011515513.1:c.-348C>T, XM_011515514.3:c.-286C>A, XM_011515514.3:c.-286C>T, XM_011515514.2:c.-286C>A, XM_011515514.2:c.-286C>T, XM_011515514.1:c.-286C>A, XM_011515514.1:c.-286C>T, NM_181597.1:c.-329C>A, NM_181597.1:c.-329C>T, XM_047420797.1:c.-341C>A, XM_047420797.1:c.-341C>T, XM_047420798.1:c.-329C>A, XM_047420798.1:c.-329C>T, XM_047420799.1:c.-267C>A, XM_047420799.1:c.-267C>T

Select item 147248326111.

rs1472483261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:48107059 (GRCh38)
7:48146656 (GRCh37)
Canonical SPDI:: NC_000007.14:48107058:T:C
Gene:: UPP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.48107059T>C, NC_000007.13:g.48146656T>C, NG_051802.1:g.23457T>C, NM_003364.4:c.623T>C, NM_003364.3:c.623T>C, NM_003364.2:c.623T>C, NM_001362774.2:c.623T>C, NM_001362774.1:c.623T>C, NM_001287426.2:c.623T>C, NM_001287426.1:c.623T>C, NM_001287428.2:c.212T>C, NM_001287428.1:c.212T>C, NM_001287429.2:c.212T>C, NM_001287429.1:c.212T>C, NR_109837.1:n.579T>C, NM_001287430.1:c.212T>C, XM_011515512.3:c.623T>C, XM_011515512.2:c.623T>C, XM_011515512.1:c.623T>C, XM_011515513.3:c.374T>C, XM_011515513.2:c.374T>C, XM_011515513.1:c.374T>C, XM_011515514.3:c.374T>C, XM_011515514.2:c.374T>C, XM_011515514.1:c.374T>C, NM_181597.1:c.623T>C, XM_047420797.1:c.431T>C, NP_003355.1:p.Met208Thr, NP_001349703.1:p.Met208Thr, NP_001274355.1:p.Met208Thr, NP_001274357.1:p.Met71Thr, NP_001274358.1:p.Met71Thr, NP_001274359.1:p.Met71Thr, XP_011513814.1:p.Met208Thr, XP_011513815.1:p.Met125Thr, XP_011513816.1:p.Met125Thr, XP_047276753.1:p.Met144Thr

Select item 147041959312.

rs1470419593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:48108333 (GRCh38)
7:48147930 (GRCh37)
Canonical SPDI:: NC_000007.14:48108332:C:A,NC_000007.14:48108332:C:T
Gene:: UPP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.48108333C>A, NC_000007.14:g.48108333C>T, NC_000007.13:g.48147930C>A, NC_000007.13:g.48147930C>T, NG_051802.1:g.24731C>A, NG_051802.1:g.24731C>T, NM_003364.4:c.909C>A, NM_003364.4:c.909C>T, NM_003364.3:c.909C>A, NM_003364.3:c.909C>T, NM_003364.2:c.909C>A, NM_003364.2:c.909C>T, NM_001362774.2:c.909C>A, NM_001362774.2:c.909C>T, NM_001362774.1:c.909C>A, NM_001362774.1:c.909C>T, NM_001287426.2:c.909C>A, NM_001287426.2:c.909C>T, NM_001287426.1:c.909C>A, NM_001287426.1:c.909C>T, NM_001287428.2:c.498C>A, NM_001287428.2:c.498C>T, NM_001287428.1:c.498C>A, NM_001287428.1:c.498C>T, NM_001287429.2:c.498C>A, NM_001287429.2:c.498C>T, NM_001287429.1:c.498C>A, NM_001287429.1:c.498C>T, NR_109837.1:n.865C>A, NR_109837.1:n.865C>T, NM_001287430.1:c.498C>A, NM_001287430.1:c.498C>T, XM_011515512.3:c.909C>A, XM_011515512.3:c.909C>T, XM_011515512.2:c.909C>A, XM_011515512.2:c.909C>T, XM_011515512.1:c.909C>A, XM_011515512.1:c.909C>T, XM_011515513.3:c.660C>A, XM_011515513.3:c.660C>T, XM_011515513.2:c.660C>A, XM_011515513.2:c.660C>T, XM_011515513.1:c.660C>A, XM_011515513.1:c.660C>T, XM_011515514.3:c.660C>A, XM_011515514.3:c.660C>T, XM_011515514.2:c.660C>A, XM_011515514.2:c.660C>T, XM_011515514.1:c.660C>A, XM_011515514.1:c.660C>T, NM_181597.1:c.909C>A, NM_181597.1:c.909C>T, XM_047420797.1:c.717C>A, XM_047420797.1:c.717C>T

Select item 146408679913.

rs1464086799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:48107443 (GRCh38)
7:48147040 (GRCh37)
Canonical SPDI:: NC_000007.14:48107442:C:T
Gene:: UPP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.48107443C>T, NC_000007.13:g.48147040C>T, NG_051802.1:g.23841C>T, NM_003364.4:c.729C>T, NM_003364.3:c.729C>T, NM_003364.2:c.729C>T, NM_001362774.2:c.729C>T, NM_001362774.1:c.729C>T, NM_001287426.2:c.729C>T, NM_001287426.1:c.729C>T, NM_001287428.2:c.318C>T, NM_001287428.1:c.318C>T, NM_001287429.2:c.318C>T, NM_001287429.1:c.318C>T, NR_109837.1:n.685C>T, NM_001287430.1:c.318C>T, XM_011515512.3:c.729C>T, XM_011515512.2:c.729C>T, XM_011515512.1:c.729C>T, XM_011515513.3:c.480C>T, XM_011515513.2:c.480C>T, XM_011515513.1:c.480C>T, XM_011515514.3:c.480C>T, XM_011515514.2:c.480C>T, XM_011515514.1:c.480C>T, NM_181597.1:c.729C>T, XM_047420797.1:c.537C>T

Select item 146363565714.

rs1463635657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:48108283 (GRCh38)
7:48147880 (GRCh37)
Canonical SPDI:: NC_000007.14:48108282:G:A
Gene:: UPP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.48108283G>A, NC_000007.13:g.48147880G>A, NG_051802.1:g.24681G>A, NM_003364.4:c.859G>A, NM_003364.3:c.859G>A, NM_003364.2:c.859G>A, NM_001362774.2:c.859G>A, NM_001362774.1:c.859G>A, NM_001287426.2:c.859G>A, NM_001287426.1:c.859G>A, NM_001287428.2:c.448G>A, NM_001287428.1:c.448G>A, NM_001287429.2:c.448G>A, NM_001287429.1:c.448G>A, NR_109837.1:n.815G>A, NM_001287430.1:c.448G>A, XM_011515512.3:c.859G>A, XM_011515512.2:c.859G>A, XM_011515512.1:c.859G>A, XM_011515513.3:c.610G>A, XM_011515513.2:c.610G>A, XM_011515513.1:c.610G>A, XM_011515514.3:c.610G>A, XM_011515514.2:c.610G>A, XM_011515514.1:c.610G>A, NM_181597.1:c.859G>A, XM_047420797.1:c.667G>A, NP_003355.1:p.Val287Met, NP_001349703.1:p.Val287Met, NP_001274355.1:p.Val287Met, NP_001274357.1:p.Val150Met, NP_001274358.1:p.Val150Met, NP_001274359.1:p.Val150Met, XP_011513814.1:p.Val287Met, XP_011513815.1:p.Val204Met, XP_011513816.1:p.Val204Met, XP_047276753.1:p.Val223Met

Select item 146284647515.

rs1462846475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:48108717 (GRCh38)
7:48148314 (GRCh37)
Canonical SPDI:: NC_000007.14:48108716:T:G
Gene:: UPP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.48108717T>G, NC_000007.13:g.48148314T>G, NG_051802.1:g.25115T>G, NM_003364.4:c.*360T>G, NM_003364.3:c.*360T>G, NM_003364.2:c.*360T>G, NM_001362774.2:c.*360T>G, NM_001362774.1:c.*360T>G, NM_001287426.2:c.*360T>G, NM_001287426.1:c.*360T>G, NM_001287428.2:c.*360T>G, NM_001287428.1:c.*360T>G, NM_001287429.2:c.*360T>G, NM_001287429.1:c.*360T>G, NR_109837.1:n.1249T>G, NM_001287430.1:c.*360T>G, XM_011515512.3:c.*360T>G, XM_011515513.3:c.*360T>G, XM_011515514.3:c.*360T>G, NM_181597.1:c.*360T>G, XM_047420797.1:c.*360T>G

Select item 146039897016.

rs1460398970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:48108223 (GRCh38)
7:48147820 (GRCh37)
Canonical SPDI:: NC_000007.14:48108222:G:A
Gene:: UPP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.48108223G>A, NC_000007.13:g.48147820G>A, NG_051802.1:g.24621G>A, NM_003364.4:c.799G>A, NM_003364.3:c.799G>A, NM_003364.2:c.799G>A, NM_001362774.2:c.799G>A, NM_001362774.1:c.799G>A, NM_001287426.2:c.799G>A, NM_001287426.1:c.799G>A, NM_001287428.2:c.388G>A, NM_001287428.1:c.388G>A, NM_001287429.2:c.388G>A, NM_001287429.1:c.388G>A, NR_109837.1:n.755G>A, NM_001287430.1:c.388G>A, XM_011515512.3:c.799G>A, XM_011515512.2:c.799G>A, XM_011515512.1:c.799G>A, XM_011515513.3:c.550G>A, XM_011515513.2:c.550G>A, XM_011515513.1:c.550G>A, XM_011515514.3:c.550G>A, XM_011515514.2:c.550G>A, XM_011515514.1:c.550G>A, NM_181597.1:c.799G>A, XM_047420797.1:c.607G>A, NP_003355.1:p.Val267Met, NP_001349703.1:p.Val267Met, NP_001274355.1:p.Val267Met, NP_001274357.1:p.Val130Met, NP_001274358.1:p.Val130Met, NP_001274359.1:p.Val130Met, XP_011513814.1:p.Val267Met, XP_011513815.1:p.Val184Met, XP_011513816.1:p.Val184Met, XP_047276753.1:p.Val203Met

Select item 145946159517.

rs1459461595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:48094821 (GRCh38)
7:48134418 (GRCh37)
Canonical SPDI:: NC_000007.14:48094820:G:T
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_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_000007.14:g.48094821G>T, NC_000007.13:g.48134418G>T, NG_051802.1:g.11219G>T, NM_003364.4:c.38G>T, NM_003364.3:c.38G>T, NM_003364.2:c.38G>T, NM_001362774.2:c.38G>T, NM_001362774.1:c.38G>T, NM_001287426.2:c.38G>T, NM_001287426.1:c.38G>T, NM_001287428.2:c.19G>T, NM_001287428.1:c.19G>T, NM_001287429.2:c.19G>T, NM_001287429.1:c.19G>T, NR_109837.1:n.339G>T, NM_001287430.1:c.19G>T, XM_011515512.3:c.38G>T, XM_011515512.2:c.38G>T, XM_011515512.1:c.38G>T, XM_011515513.3:c.19G>T, XM_011515513.2:c.19G>T, XM_011515513.1:c.19G>T, XM_011515514.3:c.19G>T, XM_011515514.2:c.19G>T, XM_011515514.1:c.19G>T, NM_181597.1:c.38G>T, XM_047420797.1:c.-37G>T, XM_047420798.1:c.38G>T, XM_047420799.1:c.38G>T, NP_003355.1:p.Ser13Ile, NP_001349703.1:p.Ser13Ile, NP_001274355.1:p.Ser13Ile, NP_001274357.1:p.Val7Phe, NP_001274358.1:p.Val7Phe, NP_001274359.1:p.Val7Phe, XP_011513814.1:p.Ser13Ile, XP_011513815.1:p.Val7Phe, XP_011513816.1:p.Val7Phe, XP_047276754.1:p.Ser13Ile, XP_047276755.1:p.Ser13Ile

Select item 145753019818.

rs1457530198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:48089282 (GRCh38)
7:48128879 (GRCh37)
Canonical SPDI:: NC_000007.14:48089281:C:A,NC_000007.14:48089281:C:T
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
T=0.000344/1 (KOREAN)
HGVS:: NC_000007.14:g.48089282C>A, NC_000007.14:g.48089282C>T, NC_000007.13:g.48128879C>A, NC_000007.13:g.48128879C>T, NG_051802.1:g.5680C>A, NG_051802.1:g.5680C>T, NM_003364.4:c.-335C>A, NM_003364.4:c.-335C>T, NM_003364.3:c.-335C>A, NM_003364.3:c.-335C>T, NM_003364.2:c.-335C>A, NM_003364.2:c.-335C>T, NM_001362774.2:c.-335C>A, NM_001362774.2:c.-335C>T, NM_001362774.1:c.-335C>A, NM_001362774.1:c.-335C>T, NM_001287426.2:c.-273C>A, NM_001287426.2:c.-273C>T, NM_001287426.1:c.-273C>A, NM_001287426.1:c.-273C>T, NM_001287428.2:c.-354C>A, NM_001287428.2:c.-354C>T, NM_001287428.1:c.-354C>A, NM_001287428.1:c.-354C>T, NM_001287429.2:c.-354C>A, NM_001287429.2:c.-354C>T, NM_001287429.1:c.-354C>A, NM_001287429.1:c.-354C>T, NR_109837.1:n.29C>A, NR_109837.1:n.29C>T, NM_001287430.1:c.-292C>A, NM_001287430.1:c.-292C>T, XM_011515513.3:c.-354C>A, XM_011515513.3:c.-354C>T, XM_011515513.2:c.-354C>A, XM_011515513.2:c.-354C>T, XM_011515513.1:c.-354C>A, XM_011515513.1:c.-354C>T, XM_011515514.3:c.-292C>A, XM_011515514.3:c.-292C>T, XM_011515514.2:c.-292C>A, XM_011515514.2:c.-292C>T, XM_011515514.1:c.-292C>A, XM_011515514.1:c.-292C>T, NM_181597.1:c.-335C>A, NM_181597.1:c.-335C>T, XM_047420797.1:c.-347C>A, XM_047420797.1:c.-347C>T, XM_047420798.1:c.-335C>A, XM_047420798.1:c.-335C>T, XM_047420799.1:c.-273C>A, XM_047420799.1:c.-273C>T

Select item 145718744219.

rs1457187442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:48108380 (GRCh38)
7:48147977 (GRCh37)
Canonical SPDI:: NC_000007.14:48108379:A:T
Gene:: UPP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.48108380A>T, NC_000007.13:g.48147977A>T, NG_051802.1:g.24778A>T, NM_003364.4:c.*23A>T, NM_003364.3:c.*23A>T, NM_003364.2:c.*23A>T, NM_001362774.2:c.*23A>T, NM_001362774.1:c.*23A>T, NM_001287426.2:c.*23A>T, NM_001287426.1:c.*23A>T, NM_001287428.2:c.*23A>T, NM_001287428.1:c.*23A>T, NM_001287429.2:c.*23A>T, NM_001287429.1:c.*23A>T, NR_109837.1:n.912A>T, NM_001287430.1:c.*23A>T, XM_011515512.3:c.*23A>T, XM_011515512.2:c.*23A>T, XM_011515512.1:c.*23A>T, XM_011515513.3:c.*23A>T, XM_011515513.2:c.*23A>T, XM_011515513.1:c.*23A>T, XM_011515514.3:c.*23A>T, XM_011515514.2:c.*23A>T, XM_011515514.1:c.*23A>T, NM_181597.1:c.*23A>T, XM_047420797.1:c.*23A>T

Select item 145623273620.

rs1456232736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:48107412 (GRCh38)
7:48147009 (GRCh37)
Canonical SPDI:: NC_000007.14:48107411:A:G
Gene:: UPP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.48107412A>G, NC_000007.13:g.48147009A>G, NG_051802.1:g.23810A>G, NM_003364.4:c.698A>G, NM_003364.3:c.698A>G, NM_003364.2:c.698A>G, NM_001362774.2:c.698A>G, NM_001362774.1:c.698A>G, NM_001287426.2:c.698A>G, NM_001287426.1:c.698A>G, NM_001287428.2:c.287A>G, NM_001287428.1:c.287A>G, NM_001287429.2:c.287A>G, NM_001287429.1:c.287A>G, NR_109837.1:n.654A>G, NM_001287430.1:c.287A>G, XM_011515512.3:c.698A>G, XM_011515512.2:c.698A>G, XM_011515512.1:c.698A>G, XM_011515513.3:c.449A>G, XM_011515513.2:c.449A>G, XM_011515513.1:c.449A>G, XM_011515514.3:c.449A>G, XM_011515514.2:c.449A>G, XM_011515514.1:c.449A>G, NM_181597.1:c.698A>G, XM_047420797.1:c.506A>G, NP_003355.1:p.Gln233Arg, NP_001349703.1:p.Gln233Arg, NP_001274355.1:p.Gln233Arg, NP_001274357.1:p.Gln96Arg, NP_001274358.1:p.Gln96Arg, NP_001274359.1:p.Gln96Arg, XP_011513814.1:p.Gln233Arg, XP_011513815.1:p.Gln150Arg, XP_011513816.1:p.Gln150Arg, XP_047276753.1:p.Gln169Arg

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