SNP Links for Nucleotide (Select 972775652) - SNP

Select item 14905137821.

rs1490513782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:31029199 (GRCh38)
6:30996976 (GRCh37)
Canonical SPDI:: NC_000006.12:31029198:T:A,NC_000006.12:31029198:T:C
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000429/7 (ALFA)
C=0.000057/7 (GnomAD)
C=0.004212/71 (TOMMO)
HGVS:: NC_000006.12:g.31029199T>A, NC_000006.12:g.31029199T>C, NC_000006.11:g.30996976T>A, NC_000006.11:g.30996976T>C, NT_113891.3:g.2508892T>A, NT_113891.3:g.2508892T>C, NT_113891.2:g.2508998T>A, NT_113891.2:g.2508998T>C, NT_167248.2:g.2284835T>A, NT_167248.2:g.2284835T>C, NT_167248.1:g.2290431T>A, NT_167248.1:g.2290431T>C, NT_167245.2:g.2285812T>A, NT_167245.2:g.2285812T>C, NT_167245.1:g.2291397T>A, NT_167245.1:g.2291397T>C, NT_167249.2:g.2329932T>A, NT_167249.2:g.2329932T>C, NT_167249.1:g.2329230T>A, NT_167249.1:g.2329230T>C, NT_167246.2:g.2339714T>A, NT_167246.2:g.2339714T>C, NT_167246.1:g.2345334T>A, NT_167246.1:g.2345334T>C, NT_167247.2:g.2373338T>A, NT_167247.2:g.2373338T>C, NT_167247.1:g.2378923T>A, NT_167247.1:g.2378923T>C, NT_167244.2:g.2359007T>A, NT_167244.2:g.2359007T>C, NT_167244.1:g.2308923T>A, NT_167244.1:g.2308923T>C, NM_001395414.1:c.3768T>A, NM_001395414.1:c.3768T>C, NM_001198815.1:c.3768T>A, NM_001198815.1:c.3768T>C, NM_001318484.1:c.3777T>A, NM_001318484.1:c.3777T>C, NM_001322469.1:c.3777T>A, NM_001322469.1:c.3777T>C

Select item 14901849582.

rs1490184958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31034911 (GRCh38)
6:31002688 (GRCh37)
Canonical SPDI:: NC_000006.12:31034910:G:T
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0004/2 (ALFA)
T=0.0004/2 (Estonian)
HGVS:: NC_000006.12:g.31034911G>T, NC_000006.11:g.31002688G>T, NT_113891.3:g.2514605G>T, NT_113891.2:g.2514711G>T, NT_167248.2:g.2290548G>T, NT_167248.1:g.2296144G>T, NT_167245.2:g.2291557G>T, NT_167245.1:g.2297142G>T, NT_167249.2:g.2335646G>T, NT_167249.1:g.2334944G>T, NT_167246.2:g.2345426G>T, NT_167246.1:g.2351046G>T, NT_167247.2:g.2379050G>T, NT_167247.1:g.2384635G>T, NT_167244.2:g.2364752G>T, NT_167244.1:g.2314668G>T, NM_001395414.1:c.5295G>T, NM_001198815.1:c.5295G>T, NM_001318484.1:c.5304G>T, NM_001322469.1:c.5334G>T

Select item 14901616883.

rs1490161688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:31026441 (GRCh38)
6:30994218 (GRCh37)
Canonical SPDI:: NC_000006.12:31026440:C:A,NC_000006.12:31026440:C:G
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31026441C>A, NC_000006.12:g.31026441C>G, NC_000006.11:g.30994218C>A, NC_000006.11:g.30994218C>G, NT_113891.3:g.2506134C>A, NT_113891.3:g.2506134C>G, NT_113891.2:g.2506240C>A, NT_113891.2:g.2506240C>G, NT_167248.2:g.2282077C>A, NT_167248.2:g.2282077C>G, NT_167248.1:g.2287673C>A, NT_167248.1:g.2287673C>G, NT_167245.2:g.2283054C>A, NT_167245.2:g.2283054C>G, NT_167245.1:g.2288639C>A, NT_167245.1:g.2288639C>G, NT_167249.2:g.2327174C>A, NT_167249.2:g.2327174C>G, NT_167249.1:g.2326472C>A, NT_167249.1:g.2326472C>G, NT_167246.2:g.2336956C>A, NT_167246.2:g.2336956C>G, NT_167246.1:g.2342576C>A, NT_167246.1:g.2342576C>G, NT_167247.2:g.2370580C>A, NT_167247.2:g.2370580C>G, NT_167247.1:g.2376165C>A, NT_167247.1:g.2376165C>G, NT_167244.2:g.2356249C>A, NT_167244.2:g.2356249C>G, NT_167244.1:g.2306165C>A, NT_167244.1:g.2306165C>G, NM_001395414.1:c.1010C>A, NM_001395414.1:c.1010C>G, NM_001198815.1:c.1010C>A, NM_001198815.1:c.1010C>G, NM_001318484.1:c.1019C>A, NM_001318484.1:c.1019C>G, NM_001322469.1:c.1019C>A, NM_001322469.1:c.1019C>G, NP_001382343.1:p.Thr337Asn, NP_001382343.1:p.Thr337Ser, NP_001185744.1:p.Thr337Asn, NP_001185744.1:p.Thr337Ser, NP_001305413.1:p.Thr340Asn, NP_001305413.1:p.Thr340Ser

Select item 14900882654.

rs1490088265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31027745 (GRCh38)
6:30995522 (GRCh37)
Canonical SPDI:: NC_000006.12:31027744:G:A
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.31027745G>A, NC_000006.11:g.30995522G>A, NT_113891.3:g.2507438G>A, NT_113891.2:g.2507544G>A, NT_167248.2:g.2283381G>A, NT_167248.1:g.2288977G>A, NT_167245.2:g.2284358G>A, NT_167245.1:g.2289943G>A, NT_167249.2:g.2328478G>A, NT_167249.1:g.2327776G>A, NT_167246.2:g.2338260G>A, NT_167246.1:g.2343880G>A, NT_167247.2:g.2371884G>A, NT_167247.1:g.2377469G>A, NT_167244.2:g.2357553G>A, NT_167244.1:g.2307469G>A, NM_001395414.1:c.2314G>A, NM_001198815.1:c.2314G>A, NM_001318484.1:c.2323G>A, NM_001322469.1:c.2323G>A, NP_001382343.1:p.Gly772Ser, NP_001185744.1:p.Gly772Ser, NP_001305413.1:p.Gly775Ser

Select item 14899815165.

rs1489981516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31025507 (GRCh38)
6:30993284 (GRCh37)
Canonical SPDI:: NC_000006.12:31025506:G:A
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31025507G>A, NC_000006.11:g.30993284G>A, NT_113891.3:g.2505200G>A, NT_113891.2:g.2505306G>A, NT_167248.2:g.2281143G>A, NT_167248.1:g.2286739G>A, NT_167245.2:g.2282120G>A, NT_167245.1:g.2287705G>A, NT_167249.2:g.2326240G>A, NT_167249.1:g.2325538G>A, NT_167246.2:g.2336022G>A, NT_167246.1:g.2341642G>A, NT_167247.2:g.2369646G>A, NT_167247.1:g.2375231G>A, NT_167244.2:g.2355315G>A, NT_167244.1:g.2305231G>A, NM_001395414.1:c.76G>A, NM_001198815.1:c.76G>A, NM_001318484.1:c.85G>A, NM_001322469.1:c.85G>A, NP_001382343.1:p.Glu26Lys, NP_001185744.1:p.Glu26Lys, NP_001305413.1:p.Glu29Lys

Select item 14898831486.

rs1489883148 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31035012 (GRCh38)
6:31002789 (GRCh37)
Canonical SPDI:: NC_000006.12:31035011:T:C
Gene:: MUC22 (Varview)
Functional Consequence:: 3_prime_UTR_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_000006.12:g.31035012T>C, NC_000006.11:g.31002789T>C, NT_113891.3:g.2514706T>C, NT_113891.2:g.2514812T>C, NT_167248.2:g.2290649T>C, NT_167248.1:g.2296245T>C, NT_167245.2:g.2291658T>C, NT_167245.1:g.2297243T>C, NT_167249.2:g.2335747T>C, NT_167249.1:g.2335045T>C, NT_167246.2:g.2345527T>C, NT_167246.1:g.2351147T>C, NT_167247.2:g.2379151T>C, NT_167247.1:g.2384736T>C, NT_167244.2:g.2364853T>C, NT_167244.1:g.2314769T>C, NM_001395414.1:c.*74T>C, NM_001198815.1:c.*74T>C, NM_001318484.1:c.*74T>C, NM_001322469.1:c.*74T>C

Select item 14895490857.

rs1489549085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:31026762 (GRCh38)
6:30994539 (GRCh37)
Canonical SPDI:: NC_000006.12:31026761:C:A
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31026762C>A, NC_000006.11:g.30994539C>A, NT_113891.3:g.2506455C>A, NT_113891.2:g.2506561C>A, NT_167248.2:g.2282398C>A, NT_167248.1:g.2287994C>A, NT_167245.2:g.2283375C>A, NT_167245.1:g.2288960C>A, NT_167249.2:g.2327495C>A, NT_167249.1:g.2326793C>A, NT_167246.2:g.2337277C>A, NT_167246.1:g.2342897C>A, NT_167247.2:g.2370901C>A, NT_167247.1:g.2376486C>A, NT_167244.2:g.2356570C>A, NT_167244.1:g.2306486C>A, NM_001395414.1:c.1331C>A, NM_001198815.1:c.1331C>A, NM_001318484.1:c.1340C>A, NM_001322469.1:c.1340C>A, NP_001382343.1:p.Ser444Ter, NP_001185744.1:p.Ser444Ter, NP_001305413.1:p.Ser447Ter

Select item 14894975788.

rs1489497578 [Homo sapiens]

Variant type:: DEL
Alleles:: TGG>- [Show Flanks]
Chromosome:: 6:31026126 (GRCh38)
6:30993903 (GRCh37)
Canonical SPDI:: NC_000006.12:31026125:TGG:
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
HGVS:: NC_000006.12:g.31026126_31026128del, NC_000006.11:g.30993903_30993905del, NT_113891.3:g.2505819_2505821del, NT_113891.2:g.2505925_2505927del, NT_167248.2:g.2281762_2281764del, NT_167248.1:g.2287358_2287360del, NT_167245.2:g.2282739_2282741del, NT_167245.1:g.2288324_2288326del, NT_167249.2:g.2326859_2326861del, NT_167249.1:g.2326157_2326159del, NT_167246.2:g.2336641_2336643del, NT_167246.1:g.2342261_2342263del, NT_167247.2:g.2370265_2370267del, NT_167247.1:g.2375850_2375852del, NT_167244.2:g.2355934_2355936del, NT_167244.1:g.2305850_2305852del, NM_001395414.1:c.695_697del, NM_001198815.1:c.695_697del, NM_001318484.1:c.704_706del, NM_001322469.1:c.704_706del, NP_001382343.1:p.Met232_Ala233delinsThr, NP_001185744.1:p.Met232_Ala233delinsThr, NP_001305413.1:p.Met235_Ala236delinsThr

Select item 14894075249.

rs1489407524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31027393 (GRCh38)
6:30995170 (GRCh37)
Canonical SPDI:: NC_000006.12:31027392:G:A
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31027393G>A, NC_000006.11:g.30995170G>A, NT_113891.3:g.2507086G>A, NT_113891.2:g.2507192G>A, NT_167248.2:g.2283029G>A, NT_167248.1:g.2288625G>A, NT_167245.2:g.2284006G>A, NT_167245.1:g.2289591G>A, NT_167249.2:g.2328126G>A, NT_167249.1:g.2327424G>A, NT_167246.2:g.2337908G>A, NT_167246.1:g.2343528G>A, NT_167247.2:g.2371532G>A, NT_167247.1:g.2377117G>A, NT_167244.2:g.2357201G>A, NT_167244.1:g.2307117G>A, NM_001395414.1:c.1962G>A, NM_001198815.1:c.1962G>A, NM_001318484.1:c.1971G>A, NM_001322469.1:c.1971G>A

Select item 148935424710.

rs1489354247 has merged into rs760781325 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCCACCGTGGGCTCTGAGACCACCACAG>-,TCTCCACCGTGGGCTCTGAGACCACCACAGTCTCCACCGTGGGCTCTGAGACCACCACAG [Show Flanks]
Chromosome:: 6:31026627 (GRCh38)
6:30994404 (GRCh37)
Canonical SPDI:: NC_000006.12:31026607:GGCTCTGAGACCACCACAGTCTCCACCGTGGGCTCTGAGACCACCACAG:GGCTCTGAGACCACCACAG,NC_000006.12:31026607:GGCTCTGAGACCACCACAGTCTCCACCGTGGGCTCTGAGACCACCACAG:GGCTCTGAGACCACCACAGTCTCCACCGTGGGCTCTGAGACCACCACAGTCTCCACCGTGGGCTCTGAGACCACCACAG
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GGCTCTGAGACCACCACAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
GGCTCTGAGACCACCACAGTCTCCACCGTG=0.000099/1 (ExAC)
HGVS:: NC_000006.12:g.31026627_31026656del, NC_000006.12:g.31026627_31026656dup, NC_000006.11:g.30994404_30994433del, NC_000006.11:g.30994404_30994433dup, NT_113891.3:g.2506320_2506349del, NT_113891.3:g.2506320_2506349dup, NT_113891.2:g.2506426_2506455del, NT_113891.2:g.2506426_2506455dup, NT_167248.2:g.2282263_2282292del, NT_167248.2:g.2282263_2282292dup, NT_167248.1:g.2287859_2287888del, NT_167248.1:g.2287859_2287888dup, NT_167245.2:g.2283240_2283269del, NT_167245.2:g.2283240_2283269dup, NT_167245.1:g.2288825_2288854del, NT_167245.1:g.2288825_2288854dup, NT_167249.2:g.2327360_2327389del, NT_167249.2:g.2327360_2327389dup, NT_167249.1:g.2326658_2326687del, NT_167249.1:g.2326658_2326687dup, NT_167246.2:g.2337142_2337171del, NT_167246.2:g.2337142_2337171dup, NT_167246.1:g.2342762_2342791del, NT_167246.1:g.2342762_2342791dup, NT_167247.2:g.2370766_2370795del, NT_167247.2:g.2370766_2370795dup, NT_167247.1:g.2376351_2376380del, NT_167247.1:g.2376351_2376380dup, NT_167244.2:g.2356435_2356464del, NT_167244.2:g.2356435_2356464dup, NT_167244.1:g.2306351_2306380del, NT_167244.1:g.2306351_2306380dup, NM_001395414.1:c.1196_1225del, NM_001395414.1:c.1196_1225dup, NM_001198815.1:c.1196_1225del, NM_001198815.1:c.1196_1225dup, NM_001318484.1:c.1205_1234del, NM_001318484.1:c.1205_1234dup, NM_001322469.1:c.1205_1234del, NM_001322469.1:c.1205_1234dup, NP_001382343.1:p.Val399_Thr408del, NP_001382343.1:p.Val399_Thr408dup, NP_001185744.1:p.Val399_Thr408del, NP_001185744.1:p.Val399_Thr408dup, NP_001305413.1:p.Val402_Thr411del, NP_001305413.1:p.Val402_Thr411dup

Select item 148793444411.

rs1487934444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31027778 (GRCh38)
6:30995555 (GRCh37)
Canonical SPDI:: NC_000006.12:31027777:T:C
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31027778T>C, NC_000006.11:g.30995555T>C, NT_113891.3:g.2507471T>C, NT_113891.2:g.2507577T>C, NT_167248.2:g.2283414T>C, NT_167248.1:g.2289010T>C, NT_167245.2:g.2284391T>C, NT_167245.1:g.2289976T>C, NT_167249.2:g.2328511T>C, NT_167249.1:g.2327809T>C, NT_167246.2:g.2338293T>C, NT_167246.1:g.2343913T>C, NT_167247.2:g.2371917T>C, NT_167247.1:g.2377502T>C, NT_167244.2:g.2357586T>C, NT_167244.1:g.2307502T>C, NM_001395414.1:c.2347T>C, NM_001198815.1:c.2347T>C, NM_001318484.1:c.2356T>C, NM_001322469.1:c.2356T>C, NP_001382343.1:p.Ser783Pro, NP_001185744.1:p.Ser783Pro, NP_001305413.1:p.Ser786Pro

Select item 148781060312.

rs1487810603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31026810 (GRCh38)
6:30994587 (GRCh37)
Canonical SPDI:: NC_000006.12:31026809:C:G
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000006.12:g.31026810C>G, NC_000006.11:g.30994587C>G, NT_113891.3:g.2506503C>G, NT_113891.2:g.2506609C>G, NT_167248.2:g.2282446C>G, NT_167248.1:g.2288042C>G, NT_167245.2:g.2283423C>G, NT_167245.1:g.2289008C>G, NT_167249.2:g.2327543C>G, NT_167249.1:g.2326841C>G, NT_167246.2:g.2337325C>G, NT_167246.1:g.2342945C>G, NT_167247.2:g.2370949C>G, NT_167247.1:g.2376534C>G, NT_167244.2:g.2356618C>G, NT_167244.1:g.2306534C>G, NM_001395414.1:c.1379C>G, NM_001198815.1:c.1379C>G, NM_001318484.1:c.1388C>G, NM_001322469.1:c.1388C>G, NP_001382343.1:p.Ser460Cys, NP_001185744.1:p.Ser460Cys, NP_001305413.1:p.Ser463Cys

Select item 148744433713.

rs1487444337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:31026688 (GRCh38)
6:30994465 (GRCh37)
Canonical SPDI:: NC_000006.12:31026687:C:A
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.31026688C>A, NC_000006.11:g.30994465C>A, NT_113891.3:g.2506381C>A, NT_113891.2:g.2506487C>A, NT_167248.2:g.2282324C>A, NT_167248.1:g.2287920C>A, NT_167245.2:g.2283301C>A, NT_167245.1:g.2288886C>A, NT_167249.2:g.2327421C>A, NT_167249.1:g.2326719C>A, NT_167246.2:g.2337203C>A, NT_167246.1:g.2342823C>A, NT_167247.2:g.2370827C>A, NT_167247.1:g.2376412C>A, NT_167244.2:g.2356496C>A, NT_167244.1:g.2306412C>A, NM_001395414.1:c.1257C>A, NM_001198815.1:c.1257C>A, NM_001318484.1:c.1266C>A, NM_001322469.1:c.1266C>A

Select item 148726188014.

rs1487261880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31027055 (GRCh38)
6:30994832 (GRCh37)
Canonical SPDI:: NC_000006.12:31027054:G:T
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000113/1 (ALFA)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31027055G>T, NC_000006.11:g.30994832G>T, NT_113891.3:g.2506748G>T, NT_113891.2:g.2506854G>T, NT_167248.2:g.2282691G>T, NT_167248.1:g.2288287G>T, NT_167245.2:g.2283668G>T, NT_167245.1:g.2289253G>T, NT_167249.2:g.2327788G>T, NT_167249.1:g.2327086G>T, NT_167246.2:g.2337570G>T, NT_167246.1:g.2343190G>T, NT_167247.2:g.2371194G>T, NT_167247.1:g.2376779G>T, NT_167244.2:g.2356863G>T, NT_167244.1:g.2306779G>T, NM_001395414.1:c.1624G>T, NM_001198815.1:c.1624G>T, NM_001318484.1:c.1633G>T, NM_001322469.1:c.1633G>T, NP_001382343.1:p.Gly542Cys, NP_001185744.1:p.Gly542Cys, NP_001305413.1:p.Gly545Cys

Select item 148721114515.

rs1487211145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31026374 (GRCh38)
6:30994151 (GRCh37)
Canonical SPDI:: NC_000006.12:31026373:T:C
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.31026374T>C, NC_000006.11:g.30994151T>C, NT_113891.3:g.2506067T>C, NT_113891.2:g.2506173T>C, NT_167248.2:g.2282010T>C, NT_167248.1:g.2287606T>C, NT_167245.2:g.2282987T>C, NT_167245.1:g.2288572T>C, NT_167249.2:g.2327107T>C, NT_167249.1:g.2326405T>C, NT_167246.2:g.2336889T>C, NT_167246.1:g.2342509T>C, NT_167247.2:g.2370513T>C, NT_167247.1:g.2376098T>C, NT_167244.2:g.2356182T>C, NT_167244.1:g.2306098T>C, NM_001395414.1:c.943T>C, NM_001198815.1:c.943T>C, NM_001318484.1:c.952T>C, NM_001322469.1:c.952T>C, NP_001382343.1:p.Ser315Pro, NP_001185744.1:p.Ser315Pro, NP_001305413.1:p.Ser318Pro

Select item 148703644116.

rs1487036441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31028249 (GRCh38)
6:30996026 (GRCh37)
Canonical SPDI:: NC_000006.12:31028248:G:C
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.31028249G>C, NC_000006.11:g.30996026G>C, NT_113891.3:g.2507942G>C, NT_113891.2:g.2508048G>C, NT_167248.2:g.2283885G>C, NT_167248.1:g.2289481G>C, NT_167245.2:g.2284862G>C, NT_167245.1:g.2290447G>C, NT_167249.2:g.2328982G>C, NT_167249.1:g.2328280G>C, NT_167246.2:g.2338764G>C, NT_167246.1:g.2344384G>C, NT_167247.2:g.2372388G>C, NT_167247.1:g.2377973G>C, NT_167244.2:g.2358057G>C, NT_167244.1:g.2307973G>C, NM_001395414.1:c.2818G>C, NM_001198815.1:c.2818G>C, NM_001318484.1:c.2827G>C, NM_001322469.1:c.2827G>C, NP_001382343.1:p.Glu940Gln, NP_001185744.1:p.Glu940Gln, NP_001305413.1:p.Glu943Gln

Select item 148682887117.

rs1486828871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31026030 (GRCh38)
6:30993807 (GRCh37)
Canonical SPDI:: NC_000006.12:31026029:C:T
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31026030C>T, NC_000006.11:g.30993807C>T, NT_113891.3:g.2505723C>T, NT_113891.2:g.2505829C>T, NT_167248.2:g.2281666C>T, NT_167248.1:g.2287262C>T, NT_167245.2:g.2282643C>T, NT_167245.1:g.2288228C>T, NT_167249.2:g.2326763C>T, NT_167249.1:g.2326061C>T, NT_167246.2:g.2336545C>T, NT_167246.1:g.2342165C>T, NT_167247.2:g.2370169C>T, NT_167247.1:g.2375754C>T, NT_167244.2:g.2355838C>T, NT_167244.1:g.2305754C>T, NM_001395414.1:c.599C>T, NM_001198815.1:c.599C>T, NM_001318484.1:c.608C>T, NM_001322469.1:c.608C>T, NP_001382343.1:p.Thr200Ile, NP_001185744.1:p.Thr200Ile, NP_001305413.1:p.Thr203Ile

Select item 148659397818.

rs1486593978 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:31027683 (GRCh38)
6:30995460 (GRCh37)
Canonical SPDI:: NC_000006.12:31027681:ATA:A
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31027683_31027684del, NC_000006.11:g.30995460_30995461del, NT_113891.3:g.2507376_2507377del, NT_113891.2:g.2507482_2507483del, NT_167248.2:g.2283319_2283320del, NT_167248.1:g.2288915_2288916del, NT_167245.2:g.2284296_2284297del, NT_167245.1:g.2289881_2289882del, NT_167249.2:g.2328416_2328417del, NT_167249.1:g.2327714_2327715del, NT_167246.2:g.2338198_2338199del, NT_167246.1:g.2343818_2343819del, NT_167247.2:g.2371822_2371823del, NT_167247.1:g.2377407_2377408del, NT_167244.2:g.2357491_2357492del, NT_167244.1:g.2307407_2307408del, NM_001395414.1:c.2252_2253del, NM_001198815.1:c.2252_2253del, NM_001318484.1:c.2261_2262del, NM_001322469.1:c.2261_2262del, NP_001382343.1:p.Ile751fs, NP_001185744.1:p.Ile751fs, NP_001305413.1:p.Ile754fs

Select item 148650193419.

rs1486501934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31032264 (GRCh38)
6:31000041 (GRCh37)
Canonical SPDI:: NC_000006.12:31032263:A:G
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31032264A>G, NC_000006.11:g.31000041A>G, NT_113891.3:g.2511958A>G, NT_113891.2:g.2512064A>G, NT_167248.2:g.2287901A>G, NT_167248.1:g.2293497A>G, NT_167245.2:g.2288910A>G, NT_167245.1:g.2294495A>G, NT_167249.2:g.2332999A>G, NT_167249.1:g.2332297A>G, NT_167246.2:g.2342783A>G, NT_167246.1:g.2348403A>G, NT_167247.2:g.2376407A>G, NT_167247.1:g.2381992A>G, NT_167244.2:g.2362105A>G, NT_167244.1:g.2312021A>G, NM_001395414.1:c.4738A>G, NM_001198815.1:c.4738A>G, NM_001318484.1:c.4747A>G, NM_001322469.1:c.4777A>G, NP_001382343.1:p.Thr1580Ala, NP_001185744.1:p.Thr1580Ala, NP_001305413.1:p.Thr1583Ala

Select item 148641503020.

rs1486415030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31025653 (GRCh38)
6:30993430 (GRCh37)
Canonical SPDI:: NC_000006.12:31025652:G:C
Gene:: MUC22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.31025653G>C, NC_000006.11:g.30993430G>C, NT_113891.3:g.2505346G>C, NT_113891.2:g.2505452G>C, NT_167248.2:g.2281289G>C, NT_167248.1:g.2286885G>C, NT_167245.2:g.2282266G>C, NT_167245.1:g.2287851G>C, NT_167249.2:g.2326386G>C, NT_167249.1:g.2325684G>C, NT_167246.2:g.2336168G>C, NT_167246.1:g.2341788G>C, NT_167247.2:g.2369792G>C, NT_167247.1:g.2375377G>C, NT_167244.2:g.2355461G>C, NT_167244.1:g.2305377G>C, NM_001395414.1:c.222G>C, NM_001198815.1:c.222G>C, NM_001318484.1:c.231G>C, NM_001322469.1:c.231G>C, NP_001382343.1:p.Glu74Asp, NP_001185744.1:p.Glu74Asp, NP_001305413.1:p.Glu77Asp

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