SNP Links for Nucleotide (Select 1034659451) - SNP - NCBI

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Select item 14896573091.

rs1489657309 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:138826720 (GRCh38)
8:139838963 (GRCh37)
Canonical SPDI:: NC_000008.11:138826719:T:C
Gene:: COL22A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_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_000008.11:g.138826720T>C, NC_000008.10:g.139838963T>C, NG_054761.1:g.92368A>G, NM_152888.3:c.907A>G, NM_152888.2:c.907A>G, NM_152888.1:c.907A>G, XM_011516886.4:c.820A>G, XM_011516886.3:c.820A>G, XM_011516886.2:c.820A>G, XM_011516886.1:c.820A>G, XM_011516883.3:c.907A>G, XM_011516883.2:c.907A>G, XM_011516883.1:c.907A>G, XM_011516884.3:c.907A>G, XM_011516884.2:c.907A>G, XM_011516884.1:c.907A>G, XM_011516885.3:c.907A>G, XM_011516885.2:c.907A>G, XM_011516885.1:c.907A>G, XM_017013150.3:c.781A>G, XM_017013150.2:c.781A>G, XM_017013150.1:c.781A>G, XM_011516888.3:c.907A>G, XM_011516888.2:c.907A>G, XM_011516888.1:c.907A>G, XM_017013151.2:c.907A>G, XM_017013151.1:c.907A>G, XM_011516887.2:c.-120A>G, XM_011516887.1:c.-120A>G, XM_017013152.2:c.-120A>G, XM_017013152.1:c.-120A>G, XR_001745487.2:n.1402A>G, XR_001745487.1:n.1448A>G, XM_047421412.1:c.907A>G, NP_690848.1:p.Lys303Glu, XP_011515188.1:p.Lys274Glu, XP_011515185.1:p.Lys303Glu, XP_011515186.1:p.Lys303Glu, XP_011515187.1:p.Lys303Glu, XP_016868639.1:p.Lys261Glu, XP_011515190.1:p.Lys303Glu, XP_016868640.1:p.Lys303Glu, XP_047277368.1:p.Lys303Glu

Select item 14892277182.

rs1489227718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:138688933 (GRCh38)
8:139701176 (GRCh37)
Canonical SPDI:: NC_000008.11:138688932:C:G
Gene:: COL22A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.138688933C>G, NC_000008.10:g.139701176C>G, NG_054761.1:g.230155G>C, NM_152888.3:c.2846G>C, NM_152888.2:c.2846G>C, NM_152888.1:c.2846G>C, XM_011516886.4:c.2759G>C, XM_011516886.3:c.2759G>C, XM_011516886.2:c.2759G>C, XM_011516886.1:c.2759G>C, XM_011516883.3:c.2846G>C, XM_011516883.2:c.2846G>C, XM_011516883.1:c.2846G>C, XM_011516884.3:c.2807G>C, XM_011516884.2:c.2807G>C, XM_011516884.1:c.2807G>C, XM_011516885.3:c.2792G>C, XM_011516885.2:c.2792G>C, XM_011516885.1:c.2792G>C, XM_017013150.3:c.2720G>C, XM_017013150.2:c.2720G>C, XM_017013150.1:c.2720G>C, XM_011516888.3:c.2846G>C, XM_011516888.2:c.2846G>C, XM_011516888.1:c.2846G>C, XM_011516889.3:c.1202G>C, XM_011516889.2:c.1202G>C, XM_011516889.1:c.1202G>C, XM_017013151.2:c.2684G>C, XM_017013151.1:c.2684G>C, XM_011516887.2:c.1820G>C, XM_011516887.1:c.1820G>C, XM_017013152.2:c.1820G>C, XM_017013152.1:c.1820G>C, XM_047421412.1:c.2792G>C, NP_690848.1:p.Gly949Ala, XP_011515188.1:p.Gly920Ala, XP_011515185.1:p.Gly949Ala, XP_011515186.1:p.Gly936Ala, XP_011515187.1:p.Gly931Ala, XP_016868639.1:p.Gly907Ala, XP_011515190.1:p.Gly949Ala, XP_011515191.1:p.Gly401Ala, XP_016868640.1:p.Gly895Ala, XP_011515189.1:p.Gly607Ala, XP_016868641.1:p.Gly607Ala, XP_047277368.1:p.Gly931Ala

Select item 14891128053.

rs1489112805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:138649742 (GRCh38)
8:139661985 (GRCh37)
Canonical SPDI:: NC_000008.11:138649741:G:T
Gene:: COL22A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.138649742G>T, NC_000008.10:g.139661985G>T, NG_054761.1:g.269346C>A, NM_152888.3:c.3370C>A, NM_152888.2:c.3370C>A, NM_152888.1:c.3370C>A, XM_011516886.4:c.3223C>A, XM_011516886.3:c.3223C>A, XM_011516886.2:c.3223C>A, XM_011516886.1:c.3223C>A, XM_011516883.3:c.3310C>A, XM_011516883.2:c.3310C>A, XM_011516883.1:c.3310C>A, XM_011516884.3:c.3271C>A, XM_011516884.2:c.3271C>A, XM_011516884.1:c.3271C>A, XM_011516885.3:c.3256C>A, XM_011516885.2:c.3256C>A, XM_011516885.1:c.3256C>A, XM_017013150.3:c.3184C>A, XM_017013150.2:c.3184C>A, XM_017013150.1:c.3184C>A, XM_011516888.3:c.3310C>A, XM_011516888.2:c.3310C>A, XM_011516888.1:c.3310C>A, XM_011516889.3:c.1666C>A, XM_011516889.2:c.1666C>A, XM_011516889.1:c.1666C>A, XM_017013151.2:c.3148C>A, XM_017013151.1:c.3148C>A, XM_011516887.2:c.2284C>A, XM_011516887.1:c.2284C>A, XM_017013152.2:c.2284C>A, XM_017013152.1:c.2284C>A, XM_047421412.1:c.3256C>A, NP_690848.1:p.Leu1124Ile, XP_011515188.1:p.Leu1075Ile, XP_011515185.1:p.Leu1104Ile, XP_011515186.1:p.Leu1091Ile, XP_011515187.1:p.Leu1086Ile, XP_016868639.1:p.Leu1062Ile, XP_011515190.1:p.Leu1104Ile, XP_011515191.1:p.Leu556Ile, XP_016868640.1:p.Leu1050Ile, XP_011515189.1:p.Leu762Ile, XP_016868641.1:p.Leu762Ile, XP_047277368.1:p.Leu1086Ile

Select item 14889123954.

rs1488912395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:138724615 (GRCh38)
8:139736858 (GRCh37)
Canonical SPDI:: NC_000008.11:138724614:C:T
Gene:: COL22A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.138724615C>T, NC_000008.10:g.139736858C>T, NG_054761.1:g.194473G>A, NM_152888.3:c.2247G>A, NM_152888.2:c.2247G>A, NM_152888.1:c.2247G>A, XM_011516886.4:c.2160G>A, XM_011516886.3:c.2160G>A, XM_011516886.2:c.2160G>A, XM_011516886.1:c.2160G>A, XM_011516883.3:c.2247G>A, XM_011516883.2:c.2247G>A, XM_011516883.1:c.2247G>A, XM_011516884.3:c.2208G>A, XM_011516884.2:c.2208G>A, XM_011516884.1:c.2208G>A, XM_011516885.3:c.2247G>A, XM_011516885.2:c.2247G>A, XM_011516885.1:c.2247G>A, XM_017013150.3:c.2121G>A, XM_017013150.2:c.2121G>A, XM_017013150.1:c.2121G>A, XM_011516888.3:c.2247G>A, XM_011516888.2:c.2247G>A, XM_011516888.1:c.2247G>A, XM_011516889.3:c.603G>A, XM_011516889.2:c.603G>A, XM_011516889.1:c.603G>A, XM_011516887.2:c.1221G>A, XM_011516887.1:c.1221G>A, XM_017013152.2:c.1221G>A, XM_017013152.1:c.1221G>A, XR_001745487.2:n.2732G>A, XR_001745487.1:n.2778G>A, XM_047421412.1:c.2247G>A

Select item 14866939955.

rs1486693995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:138676633 (GRCh38)
8:139688876 (GRCh37)
Canonical SPDI:: NC_000008.11:138676632:C:A,NC_000008.11:138676632:C:G
Gene:: COL22A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.138676633C>A, NC_000008.11:g.138676633C>G, NC_000008.10:g.139688876C>A, NC_000008.10:g.139688876C>G, NG_054761.1:g.242455G>T, NG_054761.1:g.242455G>C, NM_152888.3:c.3075G>T, NM_152888.3:c.3075G>C, NM_152888.2:c.3075G>T, NM_152888.2:c.3075G>C, NM_152888.1:c.3075G>T, NM_152888.1:c.3075G>C, XM_011516886.4:c.2928G>T, XM_011516886.4:c.2928G>C, XM_011516886.3:c.2928G>T, XM_011516886.3:c.2928G>C, XM_011516886.2:c.2928G>T, XM_011516886.2:c.2928G>C, XM_011516886.1:c.2928G>T, XM_011516886.1:c.2928G>C, XM_011516883.3:c.3015G>T, XM_011516883.3:c.3015G>C, XM_011516883.2:c.3015G>T, XM_011516883.2:c.3015G>C, XM_011516883.1:c.3015G>T, XM_011516883.1:c.3015G>C, XM_011516884.3:c.2976G>T, XM_011516884.3:c.2976G>C, XM_011516884.2:c.2976G>T, XM_011516884.2:c.2976G>C, XM_011516884.1:c.2976G>T, XM_011516884.1:c.2976G>C, XM_011516885.3:c.2961G>T, XM_011516885.3:c.2961G>C, XM_011516885.2:c.2961G>T, XM_011516885.2:c.2961G>C, XM_011516885.1:c.2961G>T, XM_011516885.1:c.2961G>C, XM_017013150.3:c.2889G>T, XM_017013150.3:c.2889G>C, XM_017013150.2:c.2889G>T, XM_017013150.2:c.2889G>C, XM_017013150.1:c.2889G>T, XM_017013150.1:c.2889G>C, XM_011516888.3:c.3015G>T, XM_011516888.3:c.3015G>C, XM_011516888.2:c.3015G>T, XM_011516888.2:c.3015G>C, XM_011516888.1:c.3015G>T, XM_011516888.1:c.3015G>C, XM_011516889.3:c.1371G>T, XM_011516889.3:c.1371G>C, XM_011516889.2:c.1371G>T, XM_011516889.2:c.1371G>C, XM_011516889.1:c.1371G>T, XM_011516889.1:c.1371G>C, XM_017013151.2:c.2853G>T, XM_017013151.2:c.2853G>C, XM_017013151.1:c.2853G>T, XM_017013151.1:c.2853G>C, XM_011516887.2:c.1989G>T, XM_011516887.2:c.1989G>C, XM_011516887.1:c.1989G>T, XM_011516887.1:c.1989G>C, XM_017013152.2:c.1989G>T, XM_017013152.2:c.1989G>C, XM_017013152.1:c.1989G>T, XM_017013152.1:c.1989G>C, XM_047421412.1:c.2961G>T, XM_047421412.1:c.2961G>C

Select item 14863654836.

rs1486365483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:138716244 (GRCh38)
8:139728487 (GRCh37)
Canonical SPDI:: NC_000008.11:138716243:C:T
Gene:: COL22A1 (Varview)
Functional Consequence:: missense_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_000008.11:g.138716244C>T, NC_000008.10:g.139728487C>T, NG_054761.1:g.202844G>A, NM_152888.3:c.2446G>A, NM_152888.2:c.2446G>A, NM_152888.1:c.2446G>A, XM_011516886.4:c.2359G>A, XM_011516886.3:c.2359G>A, XM_011516886.2:c.2359G>A, XM_011516886.1:c.2359G>A, XM_011516883.3:c.2446G>A, XM_011516883.2:c.2446G>A, XM_011516883.1:c.2446G>A, XM_011516884.3:c.2407G>A, XM_011516884.2:c.2407G>A, XM_011516884.1:c.2407G>A, XM_011516885.3:c.2392G>A, XM_011516885.2:c.2392G>A, XM_011516885.1:c.2392G>A, XM_017013150.3:c.2320G>A, XM_017013150.2:c.2320G>A, XM_017013150.1:c.2320G>A, XM_011516888.3:c.2446G>A, XM_011516888.2:c.2446G>A, XM_011516888.1:c.2446G>A, XM_011516889.3:c.802G>A, XM_011516889.2:c.802G>A, XM_011516889.1:c.802G>A, XM_017013151.2:c.2284G>A, XM_017013151.1:c.2284G>A, XM_011516887.2:c.1420G>A, XM_011516887.1:c.1420G>A, XM_017013152.2:c.1420G>A, XM_017013152.1:c.1420G>A, XR_001745487.2:n.2931G>A, XR_001745487.1:n.2977G>A, XM_047421412.1:c.2392G>A, NP_690848.1:p.Gly816Arg, XP_011515188.1:p.Gly787Arg, XP_011515185.1:p.Gly816Arg, XP_011515186.1:p.Gly803Arg, XP_011515187.1:p.Gly798Arg, XP_016868639.1:p.Gly774Arg, XP_011515190.1:p.Gly816Arg, XP_011515191.1:p.Gly268Arg, XP_016868640.1:p.Gly762Arg, XP_011515189.1:p.Gly474Arg, XP_016868641.1:p.Gly474Arg, XP_047277368.1:p.Gly798Arg

Select item 14858703477.

rs1485870347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:138588603 (GRCh38)
8:139600846 (GRCh37)
Canonical SPDI:: NC_000008.11:138588602:C:A
Gene:: COL22A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.138588603C>A, NC_000008.10:g.139600846C>A, NG_054761.1:g.330485G>T, NM_152888.3:c.*650G>T, NM_152888.2:c.*650G>T, NM_152888.1:c.*650G>T, XM_011516886.4:c.*650G>T, XM_011516886.3:c.*650G>T, XM_011516886.2:c.*650G>T, XM_011516886.1:c.*650G>T, XM_011516883.3:c.*650G>T, XM_011516883.2:c.*650G>T, XM_011516883.1:c.*650G>T, XM_011516884.3:c.*650G>T, XM_011516884.2:c.*650G>T, XM_011516884.1:c.*650G>T, XM_011516885.3:c.*650G>T, XM_011516885.2:c.*650G>T, XM_011516885.1:c.*650G>T, XM_017013150.3:c.*650G>T, XM_017013150.2:c.*650G>T, XM_017013150.1:c.*650G>T, XM_011516889.3:c.*650G>T, XM_011516889.2:c.*650G>T, XM_011516889.1:c.*650G>T, XM_017013151.2:c.*650G>T, XM_017013151.1:c.*650G>T, XM_011516887.2:c.*650G>T, XM_011516887.1:c.*650G>T, XM_017013152.2:c.*650G>T, XM_017013152.1:c.*650G>T

Select item 14854625748.

rs1485462574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:138616041 (GRCh38)
8:139628284 (GRCh37)
Canonical SPDI:: NC_000008.11:138616040:G:C
Gene:: COL22A1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.138616041G>C, NC_000008.10:g.139628284G>C, NG_054761.1:g.303047C>G, NM_152888.3:c.3884C>G, NM_152888.2:c.3884C>G, NM_152888.1:c.3884C>G, XM_011516886.4:c.3737C>G, XM_011516886.3:c.3737C>G, XM_011516886.2:c.3737C>G, XM_011516886.1:c.3737C>G, XM_011516883.3:c.3824C>G, XM_011516883.2:c.3824C>G, XM_011516883.1:c.3824C>G, XM_011516884.3:c.3785C>G, XM_011516884.2:c.3785C>G, XM_011516884.1:c.3785C>G, XM_011516885.3:c.3770C>G, XM_011516885.2:c.3770C>G, XM_011516885.1:c.3770C>G, XM_017013150.3:c.3698C>G, XM_017013150.2:c.3698C>G, XM_017013150.1:c.3698C>G, XM_011516889.3:c.2180C>G, XM_011516889.2:c.2180C>G, XM_011516889.1:c.2180C>G, XM_017013151.2:c.3662C>G, XM_017013151.1:c.3662C>G, XM_011516887.2:c.2798C>G, XM_011516887.1:c.2798C>G, XM_017013152.2:c.2798C>G, XM_017013152.1:c.2798C>G, NP_690848.1:p.Ala1295Gly, XP_011515188.1:p.Ala1246Gly, XP_011515185.1:p.Ala1275Gly, XP_011515186.1:p.Ala1262Gly, XP_011515187.1:p.Ala1257Gly, XP_016868639.1:p.Ala1233Gly, XP_011515191.1:p.Ala727Gly, XP_016868640.1:p.Ala1221Gly, XP_011515189.1:p.Ala933Gly, XP_016868641.1:p.Ala933Gly

Select item 14850049769.

rs1485004976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:138779560 (GRCh38)
8:139791803 (GRCh37)
Canonical SPDI:: NC_000008.11:138779559:C:T
Gene:: COL22A1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.138779560C>T, NC_000008.10:g.139791803C>T, NG_054761.1:g.139528G>A, NM_152888.3:c.1653G>A, NM_152888.2:c.1653G>A, NM_152888.1:c.1653G>A, XM_011516886.4:c.1566G>A, XM_011516886.3:c.1566G>A, XM_011516886.2:c.1566G>A, XM_011516886.1:c.1566G>A, XM_011516883.3:c.1653G>A, XM_011516883.2:c.1653G>A, XM_011516883.1:c.1653G>A, XM_011516884.3:c.1614G>A, XM_011516884.2:c.1614G>A, XM_011516884.1:c.1614G>A, XM_011516885.3:c.1653G>A, XM_011516885.2:c.1653G>A, XM_011516885.1:c.1653G>A, XM_017013150.3:c.1527G>A, XM_017013150.2:c.1527G>A, XM_017013150.1:c.1527G>A, XM_011516888.3:c.1653G>A, XM_011516888.2:c.1653G>A, XM_011516888.1:c.1653G>A, XM_011516889.3:c.9G>A, XM_011516889.2:c.9G>A, XM_011516889.1:c.9G>A, XM_017013151.2:c.1653G>A, XM_017013151.1:c.1653G>A, XM_011516887.2:c.627G>A, XM_011516887.1:c.627G>A, XM_017013152.2:c.627G>A, XM_017013152.1:c.627G>A, XR_001745487.2:n.2148G>A, XR_001745487.1:n.2194G>A, XM_047421412.1:c.1653G>A

Select item 148478934310.

rs1484789343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:138760243 (GRCh38)
8:139772486 (GRCh37)
Canonical SPDI:: NC_000008.11:138760242:C:T
Gene:: COL22A1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000008.11:g.138760243C>T, NC_000008.10:g.139772486C>T, NG_054761.1:g.158845G>A, NM_152888.3:c.1902G>A, NM_152888.2:c.1902G>A, NM_152888.1:c.1902G>A, XM_011516886.4:c.1815G>A, XM_011516886.3:c.1815G>A, XM_011516886.2:c.1815G>A, XM_011516886.1:c.1815G>A, XM_011516883.3:c.1902G>A, XM_011516883.2:c.1902G>A, XM_011516883.1:c.1902G>A, XM_011516884.3:c.1863G>A, XM_011516884.2:c.1863G>A, XM_011516884.1:c.1863G>A, XM_011516885.3:c.1902G>A, XM_011516885.2:c.1902G>A, XM_011516885.1:c.1902G>A, XM_017013150.3:c.1776G>A, XM_017013150.2:c.1776G>A, XM_017013150.1:c.1776G>A, XM_011516888.3:c.1902G>A, XM_011516888.2:c.1902G>A, XM_011516888.1:c.1902G>A, XM_011516889.3:c.258G>A, XM_011516889.2:c.258G>A, XM_011516889.1:c.258G>A, XM_017013151.2:c.1902G>A, XM_017013151.1:c.1902G>A, XM_011516887.2:c.876G>A, XM_011516887.1:c.876G>A, XM_017013152.2:c.876G>A, XM_017013152.1:c.876G>A, XR_001745487.2:n.2397G>A, XR_001745487.1:n.2443G>A, XM_047421412.1:c.1902G>A

Select item 148427151311.

rs1484271513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:138589235 (GRCh38)
8:139601478 (GRCh37)
Canonical SPDI:: NC_000008.11:138589234:C:T
Gene:: COL22A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.138589235C>T, NC_000008.10:g.139601478C>T, NG_054761.1:g.329853G>A, NM_152888.3:c.*18G>A, NM_152888.2:c.*18G>A, NM_152888.1:c.*18G>A, XM_011516886.4:c.*18G>A, XM_011516886.3:c.*18G>A, XM_011516886.2:c.*18G>A, XM_011516886.1:c.*18G>A, XM_011516883.3:c.*18G>A, XM_011516883.2:c.*18G>A, XM_011516883.1:c.*18G>A, XM_011516884.3:c.*18G>A, XM_011516884.2:c.*18G>A, XM_011516884.1:c.*18G>A, XM_011516885.3:c.*18G>A, XM_011516885.2:c.*18G>A, XM_011516885.1:c.*18G>A, XM_017013150.3:c.*18G>A, XM_017013150.2:c.*18G>A, XM_017013150.1:c.*18G>A, XM_011516889.3:c.*18G>A, XM_011516889.2:c.*18G>A, XM_011516889.1:c.*18G>A, XM_017013151.2:c.*18G>A, XM_017013151.1:c.*18G>A, XM_011516887.2:c.*18G>A, XM_011516887.1:c.*18G>A, XM_017013152.2:c.*18G>A, XM_017013152.1:c.*18G>A

Select item 148422178212.

rs1484221782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:138828056 (GRCh38)
8:139840299 (GRCh37)
Canonical SPDI:: NC_000008.11:138828055:C:A
Gene:: COL22A1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000142/2 (ALFA)
A=0.000043/6 (GnomAD)
HGVS:: NC_000008.11:g.138828056C>A, NC_000008.10:g.139840299C>A, NG_054761.1:g.91032G>T, XM_011516887.2:c.-377G>T, XM_011516887.1:c.-377G>T

Select item 148375847813.

rs1483758478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:138725428 (GRCh38)
8:139737671 (GRCh37)
Canonical SPDI:: NC_000008.11:138725427:G:A,NC_000008.11:138725427:G:C
Gene:: COL22A1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_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_000008.11:g.138725428G>A, NC_000008.11:g.138725428G>C, NC_000008.10:g.139737671G>A, NC_000008.10:g.139737671G>C, NG_054761.1:g.193660C>T, NG_054761.1:g.193660C>G, NM_152888.3:c.2152C>T, NM_152888.3:c.2152C>G, NM_152888.2:c.2152C>T, NM_152888.2:c.2152C>G, NM_152888.1:c.2152C>T, NM_152888.1:c.2152C>G, XM_011516886.4:c.2065C>T, XM_011516886.4:c.2065C>G, XM_011516886.3:c.2065C>T, XM_011516886.3:c.2065C>G, XM_011516886.2:c.2065C>T, XM_011516886.2:c.2065C>G, XM_011516886.1:c.2065C>T, XM_011516886.1:c.2065C>G, XM_011516883.3:c.2152C>T, XM_011516883.3:c.2152C>G, XM_011516883.2:c.2152C>T, XM_011516883.2:c.2152C>G, XM_011516883.1:c.2152C>T, XM_011516883.1:c.2152C>G, XM_011516884.3:c.2113C>T, XM_011516884.3:c.2113C>G, XM_011516884.2:c.2113C>T, XM_011516884.2:c.2113C>G, XM_011516884.1:c.2113C>T, XM_011516884.1:c.2113C>G, XM_011516885.3:c.2152C>T, XM_011516885.3:c.2152C>G, XM_011516885.2:c.2152C>T, XM_011516885.2:c.2152C>G, XM_011516885.1:c.2152C>T, XM_011516885.1:c.2152C>G, XM_017013150.3:c.2026C>T, XM_017013150.3:c.2026C>G, XM_017013150.2:c.2026C>T, XM_017013150.2:c.2026C>G, XM_017013150.1:c.2026C>T, XM_017013150.1:c.2026C>G, XM_011516888.3:c.2152C>T, XM_011516888.3:c.2152C>G, XM_011516888.2:c.2152C>T, XM_011516888.2:c.2152C>G, XM_011516888.1:c.2152C>T, XM_011516888.1:c.2152C>G, XM_011516889.3:c.508C>T, XM_011516889.3:c.508C>G, XM_011516889.2:c.508C>T, XM_011516889.2:c.508C>G, XM_011516889.1:c.508C>T, XM_011516889.1:c.508C>G, XM_011516887.2:c.1126C>T, XM_011516887.2:c.1126C>G, XM_011516887.1:c.1126C>T, XM_011516887.1:c.1126C>G, XM_017013152.2:c.1126C>T, XM_017013152.2:c.1126C>G, XM_017013152.1:c.1126C>T, XM_017013152.1:c.1126C>G, XR_001745487.2:n.2637C>T, XR_001745487.2:n.2637C>G, XR_001745487.1:n.2683C>T, XR_001745487.1:n.2683C>G, XM_047421412.1:c.2152C>T, XM_047421412.1:c.2152C>G, NP_690848.1:p.Pro718Ser, NP_690848.1:p.Pro718Ala, XP_011515188.1:p.Pro689Ser, XP_011515188.1:p.Pro689Ala, XP_011515185.1:p.Pro718Ser, XP_011515185.1:p.Pro718Ala, XP_011515186.1:p.Pro705Ser, XP_011515186.1:p.Pro705Ala, XP_011515187.1:p.Pro718Ser, XP_011515187.1:p.Pro718Ala, XP_016868639.1:p.Pro676Ser, XP_016868639.1:p.Pro676Ala, XP_011515190.1:p.Pro718Ser, XP_011515190.1:p.Pro718Ala, XP_011515191.1:p.Pro170Ser, XP_011515191.1:p.Pro170Ala, XP_011515189.1:p.Pro376Ser, XP_011515189.1:p.Pro376Ala, XP_016868641.1:p.Pro376Ser, XP_016868641.1:p.Pro376Ala, XP_047277368.1:p.Pro718Ser, XP_047277368.1:p.Pro718Ala

Select item 148350432514.

rs1483504325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:138811906 (GRCh38)
8:139824149 (GRCh37)
Canonical SPDI:: NC_000008.11:138811905:C:T
Gene:: COL22A1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.138811906C>T, NC_000008.10:g.139824149C>T, NG_054761.1:g.107182G>A, NM_152888.3:c.1342G>A, NM_152888.2:c.1342G>A, NM_152888.1:c.1342G>A, XM_011516886.4:c.1255G>A, XM_011516886.3:c.1255G>A, XM_011516886.2:c.1255G>A, XM_011516886.1:c.1255G>A, XM_011516883.3:c.1342G>A, XM_011516883.2:c.1342G>A, XM_011516883.1:c.1342G>A, XM_011516884.3:c.1342G>A, XM_011516884.2:c.1342G>A, XM_011516884.1:c.1342G>A, XM_011516885.3:c.1342G>A, XM_011516885.2:c.1342G>A, XM_011516885.1:c.1342G>A, XM_017013150.3:c.1216G>A, XM_017013150.2:c.1216G>A, XM_017013150.1:c.1216G>A, XM_011516888.3:c.1342G>A, XM_011516888.2:c.1342G>A, XM_011516888.1:c.1342G>A, XM_017013151.2:c.1342G>A, XM_017013151.1:c.1342G>A, XM_011516887.2:c.316G>A, XM_011516887.1:c.316G>A, XM_017013152.2:c.316G>A, XM_017013152.1:c.316G>A, XR_001745487.2:n.1837G>A, XR_001745487.1:n.1883G>A, XM_047421412.1:c.1342G>A, NP_690848.1:p.Val448Met, XP_011515188.1:p.Val419Met, XP_011515185.1:p.Val448Met, XP_011515186.1:p.Val448Met, XP_011515187.1:p.Val448Met, XP_016868639.1:p.Val406Met, XP_011515190.1:p.Val448Met, XP_016868640.1:p.Val448Met, XP_011515189.1:p.Val106Met, XP_016868641.1:p.Val106Met, XP_047277368.1:p.Val448Met

Select item 148347325815.

rs1483473258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:138588655 (GRCh38)
8:139600898 (GRCh37)
Canonical SPDI:: NC_000008.11:138588654:C:G
Gene:: COL22A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_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_000008.11:g.138588655C>G, NC_000008.10:g.139600898C>G, NG_054761.1:g.330433G>C, NM_152888.3:c.*598G>C, NM_152888.2:c.*598G>C, NM_152888.1:c.*598G>C, XM_011516886.4:c.*598G>C, XM_011516886.3:c.*598G>C, XM_011516886.2:c.*598G>C, XM_011516886.1:c.*598G>C, XM_011516883.3:c.*598G>C, XM_011516883.2:c.*598G>C, XM_011516883.1:c.*598G>C, XM_011516884.3:c.*598G>C, XM_011516884.2:c.*598G>C, XM_011516884.1:c.*598G>C, XM_011516885.3:c.*598G>C, XM_011516885.2:c.*598G>C, XM_011516885.1:c.*598G>C, XM_017013150.3:c.*598G>C, XM_017013150.2:c.*598G>C, XM_017013150.1:c.*598G>C, XM_011516889.3:c.*598G>C, XM_011516889.2:c.*598G>C, XM_011516889.1:c.*598G>C, XM_017013151.2:c.*598G>C, XM_017013151.1:c.*598G>C, XM_011516887.2:c.*598G>C, XM_011516887.1:c.*598G>C, XM_017013152.2:c.*598G>C, XM_017013152.1:c.*598G>C

Select item 148032090116.

rs1480320901 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:138755798 (GRCh38)
8:139768041 (GRCh37)
Canonical SPDI:: NC_000008.11:138755797:A:G
Gene:: COL22A1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.138755798A>G, NC_000008.10:g.139768041A>G, NG_054761.1:g.163290T>C, NM_152888.3:c.1934T>C, NM_152888.2:c.1934T>C, NM_152888.1:c.1934T>C, XM_011516886.4:c.1847T>C, XM_011516886.3:c.1847T>C, XM_011516886.2:c.1847T>C, XM_011516886.1:c.1847T>C, XM_011516883.3:c.1934T>C, XM_011516883.2:c.1934T>C, XM_011516883.1:c.1934T>C, XM_011516884.3:c.1895T>C, XM_011516884.2:c.1895T>C, XM_011516884.1:c.1895T>C, XM_011516885.3:c.1934T>C, XM_011516885.2:c.1934T>C, XM_011516885.1:c.1934T>C, XM_017013150.3:c.1808T>C, XM_017013150.2:c.1808T>C, XM_017013150.1:c.1808T>C, XM_011516888.3:c.1934T>C, XM_011516888.2:c.1934T>C, XM_011516888.1:c.1934T>C, XM_011516889.3:c.290T>C, XM_011516889.2:c.290T>C, XM_011516889.1:c.290T>C, XM_017013151.2:c.1934T>C, XM_017013151.1:c.1934T>C, XM_011516887.2:c.908T>C, XM_011516887.1:c.908T>C, XM_017013152.2:c.908T>C, XM_017013152.1:c.908T>C, XR_001745487.2:n.2429T>C, XR_001745487.1:n.2475T>C, XM_047421412.1:c.1934T>C, NP_690848.1:p.Val645Ala, XP_011515188.1:p.Val616Ala, XP_011515185.1:p.Val645Ala, XP_011515186.1:p.Val632Ala, XP_011515187.1:p.Val645Ala, XP_016868639.1:p.Val603Ala, XP_011515190.1:p.Val645Ala, XP_011515191.1:p.Val97Ala, XP_016868640.1:p.Val645Ala, XP_011515189.1:p.Val303Ala, XP_016868641.1:p.Val303Ala, XP_047277368.1:p.Val645Ala

Select item 147989233917.

rs1479892339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:138700136 (GRCh38)
8:139712379 (GRCh37)
Canonical SPDI:: NC_000008.11:138700135:C:A
Gene:: COL22A1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.138700136C>A, NC_000008.10:g.139712379C>A, NG_054761.1:g.218952G>T, NM_152888.3:c.2568G>T, NM_152888.2:c.2568G>T, NM_152888.1:c.2568G>T, XM_011516886.4:c.2481G>T, XM_011516886.3:c.2481G>T, XM_011516886.2:c.2481G>T, XM_011516886.1:c.2481G>T, XM_011516883.3:c.2568G>T, XM_011516883.2:c.2568G>T, XM_011516883.1:c.2568G>T, XM_011516884.3:c.2529G>T, XM_011516884.2:c.2529G>T, XM_011516884.1:c.2529G>T, XM_011516885.3:c.2514G>T, XM_011516885.2:c.2514G>T, XM_011516885.1:c.2514G>T, XM_017013150.3:c.2442G>T, XM_017013150.2:c.2442G>T, XM_017013150.1:c.2442G>T, XM_011516888.3:c.2568G>T, XM_011516888.2:c.2568G>T, XM_011516888.1:c.2568G>T, XM_011516889.3:c.924G>T, XM_011516889.2:c.924G>T, XM_011516889.1:c.924G>T, XM_017013151.2:c.2406G>T, XM_017013151.1:c.2406G>T, XM_011516887.2:c.1542G>T, XM_011516887.1:c.1542G>T, XM_017013152.2:c.1542G>T, XM_017013152.1:c.1542G>T, XM_047421412.1:c.2514G>T

Select item 147980019418.

rs1479800194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:138826767 (GRCh38)
8:139839010 (GRCh37)
Canonical SPDI:: NC_000008.11:138826766:T:G
Gene:: COL22A1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.138826767T>G, NC_000008.10:g.139839010T>G, NG_054761.1:g.92321A>C, NM_152888.3:c.860A>C, NM_152888.2:c.860A>C, NM_152888.1:c.860A>C, XM_011516886.4:c.773A>C, XM_011516886.3:c.773A>C, XM_011516886.2:c.773A>C, XM_011516886.1:c.773A>C, XM_011516883.3:c.860A>C, XM_011516883.2:c.860A>C, XM_011516883.1:c.860A>C, XM_011516884.3:c.860A>C, XM_011516884.2:c.860A>C, XM_011516884.1:c.860A>C, XM_011516885.3:c.860A>C, XM_011516885.2:c.860A>C, XM_011516885.1:c.860A>C, XM_017013150.3:c.734A>C, XM_017013150.2:c.734A>C, XM_017013150.1:c.734A>C, XM_011516888.3:c.860A>C, XM_011516888.2:c.860A>C, XM_011516888.1:c.860A>C, XM_017013151.2:c.860A>C, XM_017013151.1:c.860A>C, XM_011516887.2:c.-167A>C, XM_011516887.1:c.-167A>C, XM_017013152.2:c.-167A>C, XM_017013152.1:c.-167A>C, XR_001745487.2:n.1355A>C, XR_001745487.1:n.1401A>C, XM_047421412.1:c.860A>C, NP_690848.1:p.Gln287Pro, XP_011515188.1:p.Gln258Pro, XP_011515185.1:p.Gln287Pro, XP_011515186.1:p.Gln287Pro, XP_011515187.1:p.Gln287Pro, XP_016868639.1:p.Gln245Pro, XP_011515190.1:p.Gln287Pro, XP_016868640.1:p.Gln287Pro, XP_047277368.1:p.Gln287Pro

Select item 147933406719.

rs1479334067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:138700129 (GRCh38)
8:139712372 (GRCh37)
Canonical SPDI:: NC_000008.11:138700128:G:C
Gene:: COL22A1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.138700129G>C, NC_000008.10:g.139712372G>C, NG_054761.1:g.218959C>G, NM_152888.3:c.2575C>G, NM_152888.2:c.2575C>G, NM_152888.1:c.2575C>G, XM_011516886.4:c.2488C>G, XM_011516886.3:c.2488C>G, XM_011516886.2:c.2488C>G, XM_011516886.1:c.2488C>G, XM_011516883.3:c.2575C>G, XM_011516883.2:c.2575C>G, XM_011516883.1:c.2575C>G, XM_011516884.3:c.2536C>G, XM_011516884.2:c.2536C>G, XM_011516884.1:c.2536C>G, XM_011516885.3:c.2521C>G, XM_011516885.2:c.2521C>G, XM_011516885.1:c.2521C>G, XM_017013150.3:c.2449C>G, XM_017013150.2:c.2449C>G, XM_017013150.1:c.2449C>G, XM_011516888.3:c.2575C>G, XM_011516888.2:c.2575C>G, XM_011516888.1:c.2575C>G, XM_011516889.3:c.931C>G, XM_011516889.2:c.931C>G, XM_011516889.1:c.931C>G, XM_017013151.2:c.2413C>G, XM_017013151.1:c.2413C>G, XM_011516887.2:c.1549C>G, XM_011516887.1:c.1549C>G, XM_017013152.2:c.1549C>G, XM_017013152.1:c.1549C>G, XM_047421412.1:c.2521C>G, NP_690848.1:p.Pro859Ala, XP_011515188.1:p.Pro830Ala, XP_011515185.1:p.Pro859Ala, XP_011515186.1:p.Pro846Ala, XP_011515187.1:p.Pro841Ala, XP_016868639.1:p.Pro817Ala, XP_011515190.1:p.Pro859Ala, XP_011515191.1:p.Pro311Ala, XP_016868640.1:p.Pro805Ala, XP_011515189.1:p.Pro517Ala, XP_016868641.1:p.Pro517Ala, XP_047277368.1:p.Pro841Ala

Select item 147886091820.

rs1478860918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:138589174 (GRCh38)
8:139601417 (GRCh37)
Canonical SPDI:: NC_000008.11:138589173:T:C
Gene:: COL22A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000684/2 (KOREAN)
HGVS:: NC_000008.11:g.138589174T>C, NC_000008.10:g.139601417T>C, NG_054761.1:g.329914A>G, NM_152888.3:c.*79A>G, NM_152888.2:c.*79A>G, NM_152888.1:c.*79A>G, XM_011516886.4:c.*79A>G, XM_011516886.3:c.*79A>G, XM_011516886.2:c.*79A>G, XM_011516886.1:c.*79A>G, XM_011516883.3:c.*79A>G, XM_011516883.2:c.*79A>G, XM_011516883.1:c.*79A>G, XM_011516884.3:c.*79A>G, XM_011516884.2:c.*79A>G, XM_011516884.1:c.*79A>G, XM_011516885.3:c.*79A>G, XM_011516885.2:c.*79A>G, XM_011516885.1:c.*79A>G, XM_017013150.3:c.*79A>G, XM_017013150.2:c.*79A>G, XM_017013150.1:c.*79A>G, XM_011516889.3:c.*79A>G, XM_011516889.2:c.*79A>G, XM_011516889.1:c.*79A>G, XM_017013151.2:c.*79A>G, XM_017013151.1:c.*79A>G, XM_011516887.2:c.*79A>G, XM_011516887.1:c.*79A>G, XM_017013152.2:c.*79A>G, XM_017013152.1:c.*79A>G

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