SNP Links for Nucleotide (Select 83367076) - SNP

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Items: 1 to 20 of 17237

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Select item 14910636201.

rs1491063620 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:8891156 (GRCh38)
19:9001832 (GRCh37)
Canonical SPDI:: NC_000019.10:8891155:CA:
Gene:: MUC16 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8891156_8891157del, NC_000019.9:g.9001832_9001833del, NG_055257.1:g.124234_124235del, NM_024690.2:c.40415_40416del, NM_001401501.2:c.42941_42942del, NM_001401501.1:c.42941_42942del, NW_025791807.1:g.126099_126100del, NP_078966.2:p.Met13472fs, NP_001388430.1:p.Met14314fs

Select item 14909673502.

rs1490967350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:8935302 (GRCh38)
19:9045978 (GRCh37)
Canonical SPDI:: NC_000019.10:8935301:C:G
Gene:: MUC16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000062/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.8935302C>G, NC_000019.9:g.9045978C>G, NG_055257.1:g.80089G>C, NM_024690.2:c.35653G>C, NM_001401501.2:c.35773G>C, NM_001401501.1:c.35773G>C, NW_025791807.1:g.185070C>G, NP_078966.2:p.Glu11885Gln, NP_001388430.1:p.Glu11925Gln

Select item 14909310823.

rs1490931082 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:8979639 (GRCh38)
19:9090315 (GRCh37)
Canonical SPDI:: NC_000019.10:8979638:G:
Gene:: MUC16 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000083/1 (GoESP)
HGVS:: NC_000019.10:g.8979639del, NC_000019.9:g.9090315del, NG_055257.1:g.35752del, NM_024690.2:c.1500del, NM_001401501.2:c.1620del, NM_001401501.1:c.1620del, NW_025791807.1:g.229407del, NP_078966.2:p.His500fs, NP_001388430.1:p.His540fs

Select item 14907756024.

rs1490775602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8965070 (GRCh38)
19:9075746 (GRCh37)
Canonical SPDI:: NC_000019.10:8965069:G:A
Gene:: MUC16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000019.10:g.8965070G>A, NC_000019.9:g.9075746G>A, NG_055257.1:g.50321C>T, NM_024690.2:c.11700C>T, NM_001401501.2:c.11820C>T, NM_001401501.1:c.11820C>T, NW_025791807.1:g.214838G>A

Select item 14905983925.

rs1490598392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8965324 (GRCh38)
19:9076000 (GRCh37)
Canonical SPDI:: NC_000019.10:8965323:G:A
Gene:: MUC16 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000019.10:g.8965324G>A, NC_000019.9:g.9076000G>A, NG_055257.1:g.50067C>T, NM_024690.2:c.11446C>T, NM_001401501.2:c.11566C>T, NM_001401501.1:c.11566C>T, NW_025791807.1:g.215092G>A, NP_078966.2:p.Gln3816Ter, NP_001388430.1:p.Gln3856Ter

Select item 14905773986.

rs1490577398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8980617 (GRCh38)
19:9091293 (GRCh37)
Canonical SPDI:: NC_000019.10:8980616:G:A
Gene:: MUC16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.8980617G>A, NC_000019.9:g.9091293G>A, NG_055257.1:g.34774C>T, NM_024690.2:c.522C>T, NM_001401501.2:c.642C>T, NM_001401501.1:c.642C>T, NW_025791807.1:g.230385G>A

Select item 14904255137.

rs1490425513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8961192 (GRCh38)
19:9071868 (GRCh37)
Canonical SPDI:: NC_000019.10:8961191:C:T
Gene:: MUC16 (Varview)
Functional Consequence:: missense_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_000019.10:g.8961192C>T, NC_000019.9:g.9071868C>T, NG_055257.1:g.54199G>A, NM_024690.2:c.15578G>A, NM_001401501.2:c.15698G>A, NM_001401501.1:c.15698G>A, NW_025791807.1:g.210960C>T, NP_078966.2:p.Arg5193Lys, NP_001388430.1:p.Arg5233Lys

Select item 14903871378.

rs1490387137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:8960306 (GRCh38)
19:9070982 (GRCh37)
Canonical SPDI:: NC_000019.10:8960305:T:C,NC_000019.10:8960305:T:G
Gene:: MUC16 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8960306T>C, NC_000019.10:g.8960306T>G, NC_000019.9:g.9070982T>C, NC_000019.9:g.9070982T>G, NG_055257.1:g.55085A>G, NG_055257.1:g.55085A>C, NM_024690.2:c.16464A>G, NM_024690.2:c.16464A>C, NM_001401501.2:c.16584A>G, NM_001401501.2:c.16584A>C, NM_001401501.1:c.16584A>G, NM_001401501.1:c.16584A>C, NW_025791807.1:g.210074T>C, NW_025791807.1:g.210074T>G, NP_078966.2:p.Arg5488Ser, NP_001388430.1:p.Arg5528Ser

Select item 14903721969.

rs1490372196 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:8962063 (GRCh38)
19:9072740 (GRCh37)
Canonical SPDI:: NC_000019.10:8962063:G:GG
Gene:: MUC16 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.8962064dup, NC_000019.9:g.9072740dup, NG_055257.1:g.53327dup, NM_024690.2:c.14706dup, NM_001401501.2:c.14826dup, NM_001401501.1:c.14826dup, NW_025791807.1:g.211832dup, NP_078966.2:p.Ser4903fs, NP_001388430.1:p.Ser4943fs

Select item 149028880710.

rs1490288807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8964169 (GRCh38)
19:9074845 (GRCh37)
Canonical SPDI:: NC_000019.10:8964168:C:T
Gene:: MUC16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.8964169C>T, NC_000019.9:g.9074845C>T, NG_055257.1:g.51222G>A, NM_024690.2:c.12601G>A, NM_001401501.2:c.12721G>A, NM_001401501.1:c.12721G>A, NW_025791807.1:g.213937C>T, NP_078966.2:p.Gly4201Arg, NP_001388430.1:p.Gly4241Arg

Select item 149024312311.

rs1490243123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8959811 (GRCh38)
19:9070487 (GRCh37)
Canonical SPDI:: NC_000019.10:8959810:G:A
Gene:: MUC16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8959811G>A, NC_000019.9:g.9070487G>A, NG_055257.1:g.55580C>T, NM_024690.2:c.16959C>T, NM_001401501.2:c.17079C>T, NM_001401501.1:c.17079C>T, NW_025791807.1:g.209579G>A

Select item 149023950612.

rs1490239506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:8939376 (GRCh38)
19:9050052 (GRCh37)
Canonical SPDI:: NC_000019.10:8939375:T:G
Gene:: MUC16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.8939376T>G, NC_000019.9:g.9050052T>G, NG_055257.1:g.76015A>C, NM_024690.2:c.31579A>C, NM_001401501.2:c.31699A>C, NM_001401501.1:c.31699A>C, NW_025791807.1:g.189144T>G, NP_078966.2:p.Thr10527Pro, NP_001388430.1:p.Thr10567Pro

Select item 149009881713.

rs1490098817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8959287 (GRCh38)
19:9069963 (GRCh37)
Canonical SPDI:: NC_000019.10:8959286:G:A
Gene:: MUC16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8959287G>A, NC_000019.9:g.9069963G>A, NG_055257.1:g.56104C>T, NM_024690.2:c.17483C>T, NM_001401501.2:c.17603C>T, NM_001401501.1:c.17603C>T, NW_025791807.1:g.209055G>A, NP_078966.2:p.Ser5828Leu, NP_001388430.1:p.Ser5868Leu

Select item 149008322114.

rs1490083221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:8959847 (GRCh38)
19:9070523 (GRCh37)
Canonical SPDI:: NC_000019.10:8959846:G:T
Gene:: MUC16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8959847G>T, NC_000019.9:g.9070523G>T, NG_055257.1:g.55544C>A, NM_024690.2:c.16923C>A, NM_001401501.2:c.17043C>A, NM_001401501.1:c.17043C>A, NW_025791807.1:g.209615G>T

Select item 149008024615.

rs1490080246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:8972329 (GRCh38)
19:9083005 (GRCh37)
Canonical SPDI:: NC_000019.10:8972328:G:C
Gene:: MUC16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8972329G>C, NC_000019.9:g.9083005G>C, NG_055257.1:g.43062C>G, NM_024690.2:c.8810C>G, NM_001401501.2:c.8930C>G, NM_001401501.1:c.8930C>G, NW_025791807.1:g.222097G>C, NP_078966.2:p.Pro2937Arg, NP_001388430.1:p.Pro2977Arg

Select item 149002488716.

rs1490024887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:8865640 (GRCh38)
19:8976316 (GRCh37)
Canonical SPDI:: NC_000019.10:8865639:T:C,NC_000019.10:8865639:T:G
Gene:: MUC16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8865640T>C, NC_000019.10:g.8865640T>G, NC_000019.9:g.8976316T>C, NC_000019.9:g.8976316T>G, NG_055257.1:g.149751A>G, NG_055257.1:g.149751A>C, NM_024690.2:c.42512A>G, NM_024690.2:c.42512A>C, NM_001401501.2:c.45038A>G, NM_001401501.2:c.45038A>C, NM_001401501.1:c.45038A>G, NM_001401501.1:c.45038A>C, NW_025791807.1:g.100583T>C, NW_025791807.1:g.100583T>G, NP_078966.2:p.His14171Arg, NP_078966.2:p.His14171Pro, NP_001388430.1:p.His15013Arg, NP_001388430.1:p.His15013Pro

Select item 148999526717.

rs1489995267 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAGGCAGACCTGGGCCGCTGAGGGGCTGCAGGTAGGTGCAGAGGAGGTCC [Show Flanks]
Chromosome:: 19:8871573 (GRCh38)
19:8982250 (GRCh37)
Canonical SPDI:: NC_000019.10:8871573:TAGGCAGACCTGGGCCGCTGAGGGGCTGCAGGTAGGTGCAGAGGAGGTCC:TAGGCAGACCTGGGCCGCTGAGGGGCTGCAGGTAGGTGCAGAGGAGGTCCTAGGCAGACCTGGGCCGCTGAGGGGCTGCAGGTAGGTGCAGAGGAGGTCC
Gene:: MUC16 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: TAGGCAGACCTGGGCCGCTGAGGGGCTGCAGGTAGGTGCAGAGGAGGTCC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8871574_8871623dup, NC_000019.9:g.8982250_8982299dup, NG_055257.1:g.143768_143817dup, NM_024690.2:c.41976_42025dup, NM_001401501.2:c.44502_44551dup, NM_001401501.1:c.44502_44551dup, NW_025791807.1:g.106517_106566dup, NP_078966.2:p.Ile14009fs, NP_001388430.1:p.Ile14851fs

Select item 148993471618.

rs1489934716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8938481 (GRCh38)
19:9049157 (GRCh37)
Canonical SPDI:: NC_000019.10:8938480:A:G
Gene:: MUC16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.8938481A>G, NC_000019.9:g.9049157A>G, NG_055257.1:g.76910T>C, NM_024690.2:c.32474T>C, NM_001401501.2:c.32594T>C, NM_001401501.1:c.32594T>C, NW_025791807.1:g.188249A>G, NP_078966.2:p.Val10825Ala, NP_001388430.1:p.Val10865Ala

Select item 148991120719.

rs1489911207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:8960113 (GRCh38)
19:9070789 (GRCh37)
Canonical SPDI:: NC_000019.10:8960112:T:C
Gene:: MUC16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8960113T>C, NC_000019.9:g.9070789T>C, NG_055257.1:g.55278A>G, NM_024690.2:c.16657A>G, NM_001401501.2:c.16777A>G, NM_001401501.1:c.16777A>G, NW_025791807.1:g.209881T>C, NP_078966.2:p.Thr5553Ala, NP_001388430.1:p.Thr5593Ala

Select item 148982457220.

rs1489824572 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:8934958 (GRCh38)
19:9045634 (GRCh37)
Canonical SPDI:: NC_000019.10:8934957:T:C
Gene:: MUC16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0033/6 (Korea1K)
HGVS:: NC_000019.10:g.8934958T>C, NC_000019.9:g.9045634T>C, NG_055257.1:g.80433A>G, NM_024690.2:c.35997A>G, NM_001401501.2:c.36117A>G, NM_001401501.1:c.36117A>G, NW_025791807.1:g.184726T>C

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