SNP Links for Nucleotide (Select 1034613168) - SNP

Links from Nucleotide

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Select item 14912457831.

rs1491245783 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:190880917 (GRCh38)
2:191745643 (GRCh37)
Canonical SPDI:: NC_000002.12:190880916:AG:
Gene:: GLS (Varview), LOC124906110 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000023/3 (GnomAD)
HGVS:: NC_000002.12:g.190880917_190880918del, NC_000002.11:g.191745643_191745644del, NM_014905.5:c.-168_-167del, NM_014905.4:c.-168_-167del, XM_005246467.3:c.-168_-167del, XM_005246467.2:c.-168_-167del, XM_005246467.1:c.-168_-167del, NM_001256310.2:c.-168_-167del, NM_001256310.1:c.-168_-167del, XR_007087791.1:n.727_728del, XM_006712435.1:c.-168_-167del, XR_007072653.1:n.97_98del

Select item 14904754232.

rs1490475423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190933784 (GRCh38)
2:191798510 (GRCh37)
Canonical SPDI:: NC_000002.12:190933783:A:G
Gene:: GLS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.190933784A>G, NC_000002.11:g.191798510A>G, XM_005246467.3:c.*1098A>G, NM_001256310.2:c.*922A>G, NM_001256310.1:c.*922A>G

Select item 14901990543.

rs1490199054 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:190902013 (GRCh38)
2:191766739 (GRCh37)
Canonical SPDI:: NC_000002.12:190902012:G:
Gene:: GLS (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190902013del, NC_000002.11:g.191766739del, NM_014905.5:c.802del, NM_014905.4:c.802del, XM_005246467.3:c.802del, XM_005246467.2:c.802del, XM_005246467.1:c.802del, NM_001256310.2:c.802del, NM_001256310.1:c.802del, XM_047443957.1:c.130del, XM_006712435.1:c.802del, XR_007072653.1:n.1066del, NP_055720.3:p.Thr267_Val268insTer, XP_005246524.1:p.Thr267_Val268insTer, NP_001243239.1:p.Thr267_Val268insTer, XP_047299913.1:p.Thr43_Val44insTer, XP_006712498.1:p.Thr267_Val268insTer

Select item 14887118054.

rs1488711805 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:190931561 (GRCh38)
2:191796287 (GRCh37)
Canonical SPDI:: NC_000002.12:190931557:TGTGT:TGT
Gene:: GLS (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190931559GT[1], NC_000002.11:g.191796285GT[1], NM_014905.5:c.1574_1575del, NM_014905.4:c.1574_1575del, XM_005246467.3:c.1574_1575del, XM_005246467.2:c.1574_1575del, XM_005246467.1:c.1574_1575del, NM_001256310.2:c.1574_1575del, NM_001256310.1:c.1574_1575del, XM_047443957.1:c.902_903del, XM_006712435.1:c.1574_1575del, XM_047443958.1:c.500_501del, XM_047443960.1:c.500_501del, NP_055720.3:p.Leu524_Cys525insTer, XP_005246524.1:p.Leu524_Cys525insTer, NP_001243239.1:p.Leu524_Cys525insTer, XP_047299913.1:p.Leu300_Cys301insTer, XP_006712498.1:p.Leu524_Cys525insTer, XP_047299914.1:p.Leu166_Cys167insTer, XP_047299916.1:p.Leu166_Cys167insTer

Select item 14882044175.

rs1488204417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:190933492 (GRCh38)
2:191798218 (GRCh37)
Canonical SPDI:: NC_000002.12:190933491:A:T
Gene:: GLS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.190933492A>T, NC_000002.11:g.191798218A>T, XM_005246467.3:c.*806A>T, NM_001256310.2:c.*630A>T, NM_001256310.1:c.*630A>T

Select item 14881688856.

rs1488168885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:190935127 (GRCh38)
2:191799853 (GRCh37)
Canonical SPDI:: NC_000002.12:190935126:G:A
Gene:: GLS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.190935127G>A, NC_000002.11:g.191799853G>A, XM_005246467.3:c.*2441G>A, NM_001256310.2:c.*2265G>A, NM_001256310.1:c.*2265G>A

Select item 14860296707.

rs1486029670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:190881282 (GRCh38)
2:191746008 (GRCh37)
Canonical SPDI:: NC_000002.12:190881281:G:A,NC_000002.12:190881281:G:T
Gene:: GLS (Varview), LOC124906110 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.190881282G>A, NC_000002.12:g.190881282G>T, NC_000002.11:g.191746008G>A, NC_000002.11:g.191746008G>T, NM_014905.5:c.198G>A, NM_014905.5:c.198G>T, NM_014905.4:c.198G>A, NM_014905.4:c.198G>T, XM_005246467.3:c.198G>A, XM_005246467.3:c.198G>T, XM_005246467.2:c.198G>A, XM_005246467.2:c.198G>T, XM_005246467.1:c.198G>A, XM_005246467.1:c.198G>T, NM_001256310.2:c.198G>A, NM_001256310.2:c.198G>T, NM_001256310.1:c.198G>A, NM_001256310.1:c.198G>T, XR_007087791.1:n.363C>T, XR_007087791.1:n.363C>A, XM_006712435.1:c.198G>A, XM_006712435.1:c.198G>T, XR_007072653.1:n.462G>A, XR_007072653.1:n.462G>T, NP_055720.3:p.Glu66Asp, XP_005246524.1:p.Glu66Asp, NP_001243239.1:p.Glu66Asp, XP_006712498.1:p.Glu66Asp

Select item 14855838058.

rs1485583805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190933924 (GRCh38)
2:191798650 (GRCh37)
Canonical SPDI:: NC_000002.12:190933923:A:G
Gene:: GLS (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_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_000002.12:g.190933924A>G, NC_000002.11:g.191798650A>G, XM_005246467.3:c.*1238A>G, NM_001256310.2:c.*1062A>G, NM_001256310.1:c.*1062A>G

Select item 14854734899.

rs1485473489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190932748 (GRCh38)
2:191797474 (GRCh37)
Canonical SPDI:: NC_000002.12:190932747:C:T
Gene:: GLS (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190932748C>T, NC_000002.11:g.191797474C>T, XM_005246467.3:c.*62C>T, XM_005246467.2:c.*62C>T, XM_005246467.1:c.*62C>T, NM_001256310.2:c.1683C>T, NM_001256310.1:c.1683C>T

Select item 148456620710.

rs1484566207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:190881365 (GRCh38)
2:191746091 (GRCh37)
Canonical SPDI:: NC_000002.12:190881364:T:G
Gene:: GLS (Varview), LOC124906110 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190881365T>G, NC_000002.11:g.191746091T>G, NM_014905.5:c.281T>G, NM_014905.4:c.281T>G, XM_005246467.3:c.281T>G, XM_005246467.2:c.281T>G, XM_005246467.1:c.281T>G, NM_001256310.2:c.281T>G, NM_001256310.1:c.281T>G, XR_007087791.1:n.280A>C, XM_006712435.1:c.281T>G, XR_007072653.1:n.545T>G, NP_055720.3:p.Val94Gly, XP_005246524.1:p.Val94Gly, NP_001243239.1:p.Val94Gly, XP_006712498.1:p.Val94Gly

Select item 148395701811.

rs1483957018 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:190934843 (GRCh38)
2:191799569 (GRCh37)
Canonical SPDI:: NC_000002.12:190934842:T:G
Gene:: GLS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,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_000002.12:g.190934843T>G, NC_000002.11:g.191799569T>G, XM_005246467.3:c.*2157T>G, NM_001256310.2:c.*1981T>G, NM_001256310.1:c.*1981T>G

Select item 148362821212.

rs1483628212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190935275 (GRCh38)
2:191800001 (GRCh37)
Canonical SPDI:: NC_000002.12:190935274:T:C
Gene:: GLS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,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_000002.12:g.190935275T>C, NC_000002.11:g.191800001T>C, XM_005246467.3:c.*2589T>C, NM_001256310.2:c.*2413T>C, NM_001256310.1:c.*2413T>C

Select item 148342700213.

rs1483427002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190901959 (GRCh38)
2:191766685 (GRCh37)
Canonical SPDI:: NC_000002.12:190901958:A:G
Gene:: GLS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190901959A>G, NC_000002.11:g.191766685A>G, NM_014905.5:c.748A>G, NM_014905.4:c.748A>G, XM_005246467.3:c.748A>G, XM_005246467.2:c.748A>G, XM_005246467.1:c.748A>G, NM_001256310.2:c.748A>G, NM_001256310.1:c.748A>G, XM_047443957.1:c.76A>G, XM_006712435.1:c.748A>G, XR_007072653.1:n.1012A>G, NP_055720.3:p.Ile250Val, XP_005246524.1:p.Ile250Val, NP_001243239.1:p.Ile250Val, XP_047299913.1:p.Ile26Val, XP_006712498.1:p.Ile250Val

Select item 148295940014.

rs1482959400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190880892 (GRCh38)
2:191745618 (GRCh37)
Canonical SPDI:: NC_000002.12:190880891:C:T
Gene:: GLS (Varview), LOC124906110 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000016/1 (GnomAD)
HGVS:: NC_000002.12:g.190880892C>T, NC_000002.11:g.191745618C>T, NM_014905.5:c.-193C>T, NM_014905.4:c.-193C>T, XM_005246467.3:c.-193C>T, XM_005246467.2:c.-193C>T, XM_005246467.1:c.-193C>T, NM_001256310.2:c.-193C>T, NM_001256310.1:c.-193C>T, XR_007087791.1:n.753G>A, XM_006712435.1:c.-193C>T, XR_007072653.1:n.72C>T

Select item 148213677715.

rs1482136777 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCC [Show Flanks]
Chromosome:: 2:190880911 (GRCh38)
2:191745638 (GRCh37)
Canonical SPDI:: NC_000002.12:190880911::CCC
Gene:: GLS (Varview), LOC124906110 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCC=0.000084/1 (ALFA)
CCC=0.00006/7 (GnomAD)
HGVS:: NC_000002.12:g.190880911_190880912insCCC, NC_000002.11:g.191745637_191745638insCCC, NM_014905.5:c.-174_-173insCCC, NM_014905.4:c.-174_-173insCCC, XM_005246467.3:c.-174_-173insCCC, XM_005246467.2:c.-174_-173insCCC, XM_005246467.1:c.-174_-173insCCC, NM_001256310.2:c.-174_-173insCCC, NM_001256310.1:c.-174_-173insCCC, XR_007087791.1:n.733_734insGGG, XM_006712435.1:c.-174_-173insCCC, XR_007072653.1:n.91_92insCCC

Select item 148199728616.

rs1481997286 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 2:190881126 (GRCh38)
2:191745852 (GRCh37)
Canonical SPDI:: NC_000002.12:190881123:CTCCT:CT
Gene:: GLS (Varview), LOC124906110 (Varview)
Functional Consequence:: inframe_deletion,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190881126_190881128del, NC_000002.11:g.191745852_191745854del, NM_014905.5:c.42_44del, NM_014905.4:c.42_44del, XM_005246467.3:c.42_44del, XM_005246467.2:c.42_44del, XM_005246467.1:c.42_44del, NM_001256310.2:c.42_44del, NM_001256310.1:c.42_44del, XR_007087791.1:n.519_521del, XM_006712435.1:c.42_44del, XR_007072653.1:n.306_308del, NP_055720.3:p.Leu15del, XP_005246524.1:p.Leu15del, NP_001243239.1:p.Leu15del, XP_006712498.1:p.Leu15del

Select item 148185064917.

rs1481850649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190881438 (GRCh38)
2:191746164 (GRCh37)
Canonical SPDI:: NC_000002.12:190881437:C:T
Gene:: GLS (Varview), LOC124906110 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_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_000002.12:g.190881438C>T, NC_000002.11:g.191746164C>T, NM_014905.5:c.354C>T, NM_014905.4:c.354C>T, XM_005246467.3:c.354C>T, XM_005246467.2:c.354C>T, XM_005246467.1:c.354C>T, NM_001256310.2:c.354C>T, NM_001256310.1:c.354C>T, XR_007087791.1:n.207G>A, XM_006712435.1:c.354C>T, XR_007072653.1:n.618C>T

Select item 148121857218.

rs1481218572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:190881412 (GRCh38)
2:191746138 (GRCh37)
Canonical SPDI:: NC_000002.12:190881411:G:C,NC_000002.12:190881411:G:T
Gene:: GLS (Varview), LOC124906110 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190881412G>C, NC_000002.12:g.190881412G>T, NC_000002.11:g.191746138G>C, NC_000002.11:g.191746138G>T, NM_014905.5:c.328G>C, NM_014905.5:c.328G>T, NM_014905.4:c.328G>C, NM_014905.4:c.328G>T, XM_005246467.3:c.328G>C, XM_005246467.3:c.328G>T, XM_005246467.2:c.328G>C, XM_005246467.2:c.328G>T, XM_005246467.1:c.328G>C, XM_005246467.1:c.328G>T, NM_001256310.2:c.328G>C, NM_001256310.2:c.328G>T, NM_001256310.1:c.328G>C, NM_001256310.1:c.328G>T, XR_007087791.1:n.233C>G, XR_007087791.1:n.233C>A, XM_006712435.1:c.328G>C, XM_006712435.1:c.328G>T, XR_007072653.1:n.592G>C, XR_007072653.1:n.592G>T, NP_055720.3:p.Gly110Arg, NP_055720.3:p.Gly110Trp, XP_005246524.1:p.Gly110Arg, XP_005246524.1:p.Gly110Trp, NP_001243239.1:p.Gly110Arg, NP_001243239.1:p.Gly110Trp, XP_006712498.1:p.Gly110Arg, XP_006712498.1:p.Gly110Trp

Select item 148091592919.

rs1480915929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190933501 (GRCh38)
2:191798227 (GRCh37)
Canonical SPDI:: NC_000002.12:190933500:C:T
Gene:: GLS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190933501C>T, NC_000002.11:g.191798227C>T, XM_005246467.3:c.*815C>T, NM_001256310.2:c.*639C>T, NM_001256310.1:c.*639C>T

Select item 147887700220.

rs1478877002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190880872 (GRCh38)
2:191745598 (GRCh37)
Canonical SPDI:: NC_000002.12:190880871:C:T
Gene:: GLS (Varview), LOC124906110 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.190880872C>T, NC_000002.11:g.191745598C>T, NM_014905.5:c.-213C>T, NM_014905.4:c.-213C>T, XM_005246467.3:c.-213C>T, XM_005246467.2:c.-213C>T, XM_005246467.1:c.-213C>T, NM_001256310.2:c.-213C>T, NM_001256310.1:c.-213C>T, XR_007087791.1:n.773G>A, XM_006712435.1:c.-213C>T, XR_007072653.1:n.52C>T

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