SNP Links for Protein (Select 767939447) - SNP

Links from Protein

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Select item 14906803731.

rs1490680373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:36963157 (GRCh38)
6:36930933 (GRCh37)
Canonical SPDI:: NC_000006.12:36963156:A:C,NC_000006.12:36963156:A:T
Gene:: PI16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
C=0.002729/5 (Korea1K)
HGVS:: NC_000006.12:g.36963157A>C, NC_000006.12:g.36963157A>T, NC_000006.11:g.36930933A>C, NC_000006.11:g.36930933A>T, XM_011514375.4:c.815A>C, XM_011514375.4:c.815A>T, XM_011514375.3:c.815A>C, XM_011514375.3:c.815A>T, XM_011514375.2:c.815A>C, XM_011514375.2:c.815A>T, XM_011514375.1:c.815A>C, XM_011514375.1:c.815A>T, NM_153370.3:c.815A>C, NM_153370.3:c.815A>T, NM_153370.2:c.815A>C, NM_153370.2:c.815A>T, NM_001199159.2:c.815A>C, NM_001199159.2:c.815A>T, NM_001199159.1:c.815A>C, NM_001199159.1:c.815A>T, XP_011512677.1:p.Asp272Ala, XP_011512677.1:p.Asp272Val, NP_699201.2:p.Asp272Ala, NP_699201.2:p.Asp272Val, NP_001186088.1:p.Asp272Ala, NP_001186088.1:p.Asp272Val

Select item 14859308852.

rs1485930885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:36963844 (GRCh38)
6:36931620 (GRCh37)
Canonical SPDI:: NC_000006.12:36963843:C:A
Gene:: PI16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000006.12:g.36963844C>A, NC_000006.11:g.36931620C>A, XM_011514375.4:c.1292C>A, XM_011514375.3:c.1292C>A, XM_011514375.2:c.1292C>A, XM_011514375.1:c.1292C>A, XM_005248917.4:c.713C>A, XM_005248917.3:c.713C>A, XM_005248917.2:c.713C>A, XM_005248917.1:c.713C>A, NM_153370.3:c.1292C>A, NM_153370.2:c.1292C>A, XM_017010430.3:c.713C>A, XM_017010430.2:c.713C>A, XM_017010430.1:c.713C>A, NM_001199159.2:c.1292C>A, NM_001199159.1:c.1292C>A, XP_011512677.1:p.Pro431His, XP_005248974.1:p.Pro238His, NP_699201.2:p.Pro431His, XP_016865919.1:p.Pro238His, NP_001186088.1:p.Pro431His

Select item 14835625133.

rs1483562513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:36962943 (GRCh38)
6:36930719 (GRCh37)
Canonical SPDI:: NC_000006.12:36962942:G:A,NC_000006.12:36962942:G:C
Gene:: PI16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.36962943G>A, NC_000006.12:g.36962943G>C, NC_000006.11:g.36930719G>A, NC_000006.11:g.36930719G>C, XM_011514375.4:c.601G>A, XM_011514375.4:c.601G>C, XM_011514375.3:c.601G>A, XM_011514375.3:c.601G>C, XM_011514375.2:c.601G>A, XM_011514375.2:c.601G>C, XM_011514375.1:c.601G>A, XM_011514375.1:c.601G>C, XM_005248917.4:c.601G>A, XM_005248917.4:c.601G>C, XM_005248917.3:c.601G>A, XM_005248917.3:c.601G>C, XM_005248917.2:c.601G>A, XM_005248917.2:c.601G>C, XM_005248917.1:c.601G>A, XM_005248917.1:c.601G>C, NM_153370.3:c.601G>A, NM_153370.3:c.601G>C, NM_153370.2:c.601G>A, NM_153370.2:c.601G>C, XM_017010430.3:c.601G>A, XM_017010430.3:c.601G>C, XM_017010430.2:c.601G>A, XM_017010430.2:c.601G>C, XM_017010430.1:c.601G>A, XM_017010430.1:c.601G>C, NM_001199159.2:c.601G>A, NM_001199159.2:c.601G>C, NM_001199159.1:c.601G>A, NM_001199159.1:c.601G>C, XP_011512677.1:p.Gly201Arg, XP_011512677.1:p.Gly201Arg, XP_005248974.1:p.Gly201Arg, XP_005248974.1:p.Gly201Arg, NP_699201.2:p.Gly201Arg, NP_699201.2:p.Gly201Arg, XP_016865919.1:p.Gly201Arg, XP_016865919.1:p.Gly201Arg, NP_001186088.1:p.Gly201Arg, NP_001186088.1:p.Gly201Arg

Select item 14828349944.

rs1482834994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36954807 (GRCh38)
6:36922583 (GRCh37)
Canonical SPDI:: NC_000006.12:36954806:T:C
Gene:: PI16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.36954807T>C, NC_000006.11:g.36922583T>C, XM_011514375.4:c.47T>C, XM_011514375.3:c.47T>C, XM_011514375.2:c.47T>C, XM_011514375.1:c.47T>C, XM_005248917.4:c.47T>C, XM_005248917.3:c.47T>C, XM_005248917.2:c.47T>C, XM_005248917.1:c.47T>C, NM_153370.3:c.47T>C, NM_153370.2:c.47T>C, XM_017010430.3:c.47T>C, XM_017010430.2:c.47T>C, XM_017010430.1:c.47T>C, NM_001199159.2:c.47T>C, NM_001199159.1:c.47T>C, XP_011512677.1:p.Leu16Pro, XP_005248974.1:p.Leu16Pro, NP_699201.2:p.Leu16Pro, XP_016865919.1:p.Leu16Pro, NP_001186088.1:p.Leu16Pro

Select item 14794617805.

rs1479461780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:36963905 (GRCh38)
6:36931681 (GRCh37)
Canonical SPDI:: NC_000006.12:36963904:A:G
Gene:: PI16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36963905A>G, NC_000006.11:g.36931681A>G, XM_011514375.4:c.1353A>G, XM_011514375.3:c.1353A>G, XM_011514375.2:c.1353A>G, XM_011514375.1:c.1353A>G, XM_005248917.4:c.774A>G, XM_005248917.3:c.774A>G, XM_005248917.2:c.774A>G, XM_005248917.1:c.774A>G, NM_153370.3:c.1353A>G, NM_153370.2:c.1353A>G, XM_017010430.3:c.774A>G, XM_017010430.2:c.774A>G, XM_017010430.1:c.774A>G, NM_001199159.2:c.1353A>G, NM_001199159.1:c.1353A>G

Select item 14791772096.

rs1479177209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:36959352 (GRCh38)
6:36927128 (GRCh37)
Canonical SPDI:: NC_000006.12:36959351:G:A
Gene:: PI16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.36959352G>A, NC_000006.11:g.36927128G>A, XM_011514375.4:c.379G>A, XM_011514375.3:c.379G>A, XM_011514375.2:c.379G>A, XM_011514375.1:c.379G>A, XM_005248917.4:c.379G>A, XM_005248917.3:c.379G>A, XM_005248917.2:c.379G>A, XM_005248917.1:c.379G>A, NM_153370.3:c.379G>A, NM_153370.2:c.379G>A, XM_017010430.3:c.379G>A, XM_017010430.2:c.379G>A, XM_017010430.1:c.379G>A, NM_001199159.2:c.379G>A, NM_001199159.1:c.379G>A, XP_011512677.1:p.Gly127Ser, XP_005248974.1:p.Gly127Ser, NP_699201.2:p.Gly127Ser, XP_016865919.1:p.Gly127Ser, NP_001186088.1:p.Gly127Ser

Select item 14775795717.

rs1477579571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36963425 (GRCh38)
6:36931201 (GRCh37)
Canonical SPDI:: NC_000006.12:36963424:T:C
Gene:: PI16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36963425T>C, NC_000006.11:g.36931201T>C, XM_011514375.4:c.1083T>C, XM_011514375.3:c.1083T>C, XM_011514375.2:c.1083T>C, XM_011514375.1:c.1083T>C, NM_153370.3:c.1083T>C, NM_153370.2:c.1083T>C, NM_001199159.2:c.1083T>C, NM_001199159.1:c.1083T>C

Select item 14772185618.

rs1477218561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36962950 (GRCh38)
6:36930726 (GRCh37)
Canonical SPDI:: NC_000006.12:36962949:C:T
Gene:: PI16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.36962950C>T, NC_000006.11:g.36930726C>T, XM_011514375.4:c.608C>T, XM_011514375.3:c.608C>T, XM_011514375.2:c.608C>T, XM_011514375.1:c.608C>T, XM_005248917.4:c.608C>T, XM_005248917.3:c.608C>T, XM_005248917.2:c.608C>T, XM_005248917.1:c.608C>T, NM_153370.3:c.608C>T, NM_153370.2:c.608C>T, XM_017010430.3:c.608C>T, XM_017010430.2:c.608C>T, XM_017010430.1:c.608C>T, NM_001199159.2:c.608C>T, NM_001199159.1:c.608C>T, XP_011512677.1:p.Pro203Leu, XP_005248974.1:p.Pro203Leu, NP_699201.2:p.Pro203Leu, XP_016865919.1:p.Pro203Leu, NP_001186088.1:p.Pro203Leu

Select item 14769100899.

rs1476910089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:36959187 (GRCh38)
6:36926963 (GRCh37)
Canonical SPDI:: NC_000006.12:36959186:C:G
Gene:: PI16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36959187C>G, NC_000006.11:g.36926963C>G, XM_011514375.4:c.214C>G, XM_011514375.3:c.214C>G, XM_011514375.2:c.214C>G, XM_011514375.1:c.214C>G, XM_005248917.4:c.214C>G, XM_005248917.3:c.214C>G, XM_005248917.2:c.214C>G, XM_005248917.1:c.214C>G, NM_153370.3:c.214C>G, NM_153370.2:c.214C>G, XM_017010430.3:c.214C>G, XM_017010430.2:c.214C>G, XM_017010430.1:c.214C>G, NM_001199159.2:c.214C>G, NM_001199159.1:c.214C>G, XP_011512677.1:p.Arg72Gly, XP_005248974.1:p.Arg72Gly, NP_699201.2:p.Arg72Gly, XP_016865919.1:p.Arg72Gly, NP_001186088.1:p.Arg72Gly

Select item 147687539410.

rs1476875394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:36963066 (GRCh38)
6:36930842 (GRCh37)
Canonical SPDI:: NC_000006.12:36963065:G:C
Gene:: PI16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36963066G>C, NC_000006.11:g.36930842G>C, XM_011514375.4:c.724G>C, XM_011514375.3:c.724G>C, XM_011514375.2:c.724G>C, XM_011514375.1:c.724G>C, NM_153370.3:c.724G>C, NM_153370.2:c.724G>C, NM_001199159.2:c.724G>C, NM_001199159.1:c.724G>C, XP_011512677.1:p.Ala242Pro, NP_699201.2:p.Ala242Pro, NP_001186088.1:p.Ala242Pro

Select item 147548737011.

rs1475487370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:36954824 (GRCh38)
6:36922600 (GRCh37)
Canonical SPDI:: NC_000006.12:36954823:A:G
Gene:: PI16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000447/2 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.36954824A>G, NC_000006.11:g.36922600A>G, XM_011514375.4:c.64A>G, XM_011514375.3:c.64A>G, XM_011514375.2:c.64A>G, XM_011514375.1:c.64A>G, XM_005248917.4:c.64A>G, XM_005248917.3:c.64A>G, XM_005248917.2:c.64A>G, XM_005248917.1:c.64A>G, NM_153370.3:c.64A>G, NM_153370.2:c.64A>G, XM_017010430.3:c.64A>G, XM_017010430.2:c.64A>G, XM_017010430.1:c.64A>G, NM_001199159.2:c.64A>G, NM_001199159.1:c.64A>G, XP_011512677.1:p.Thr22Ala, XP_005248974.1:p.Thr22Ala, NP_699201.2:p.Thr22Ala, XP_016865919.1:p.Thr22Ala, NP_001186088.1:p.Thr22Ala

Select item 147273041112.

rs1472730411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:36963272 (GRCh38)
6:36931048 (GRCh37)
Canonical SPDI:: NC_000006.12:36963271:G:A
Gene:: PI16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36963272G>A, NC_000006.11:g.36931048G>A, XM_011514375.4:c.930G>A, XM_011514375.3:c.930G>A, XM_011514375.2:c.930G>A, XM_011514375.1:c.930G>A, NM_153370.3:c.930G>A, NM_153370.2:c.930G>A, NM_001199159.2:c.930G>A, NM_001199159.1:c.930G>A

Select item 147198453613.

rs1471984536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36954831 (GRCh38)
6:36922607 (GRCh37)
Canonical SPDI:: NC_000006.12:36954830:C:T
Gene:: PI16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.36954831C>T, NC_000006.11:g.36922607C>T, XM_011514375.4:c.71C>T, XM_011514375.3:c.71C>T, XM_011514375.2:c.71C>T, XM_011514375.1:c.71C>T, XM_005248917.4:c.71C>T, XM_005248917.3:c.71C>T, XM_005248917.2:c.71C>T, XM_005248917.1:c.71C>T, NM_153370.3:c.71C>T, NM_153370.2:c.71C>T, XM_017010430.3:c.71C>T, XM_017010430.2:c.71C>T, XM_017010430.1:c.71C>T, NM_001199159.2:c.71C>T, NM_001199159.1:c.71C>T, XP_011512677.1:p.Pro24Leu, XP_005248974.1:p.Pro24Leu, NP_699201.2:p.Pro24Leu, XP_016865919.1:p.Pro24Leu, NP_001186088.1:p.Pro24Leu

Select item 147113857914.

rs1471138579 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36963490 (GRCh38)
6:36931266 (GRCh37)
Canonical SPDI:: NC_000006.12:36963489:T:C
Gene:: PI16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.36963490T>C, NC_000006.11:g.36931266T>C, XM_011514375.4:c.1148T>C, XM_011514375.3:c.1148T>C, XM_011514375.2:c.1148T>C, XM_011514375.1:c.1148T>C, NM_153370.3:c.1148T>C, NM_153370.2:c.1148T>C, NM_001199159.2:c.1148T>C, NM_001199159.1:c.1148T>C, XP_011512677.1:p.Leu383Pro, NP_699201.2:p.Leu383Pro, NP_001186088.1:p.Leu383Pro

Select item 147033544615.

rs1470335446 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCC [Show Flanks]
Chromosome:: 6:36954817 (GRCh38)
6:36922594 (GRCh37)
Canonical SPDI:: NC_000006.12:36954817:GCC:GCCGCC
Gene:: PI16 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: GCC=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36954818_36954820dup, NC_000006.11:g.36922594_36922596dup, XM_011514375.4:c.58_60dup, XM_011514375.3:c.58_60dup, XM_011514375.2:c.58_60dup, XM_011514375.1:c.58_60dup, XM_005248917.4:c.58_60dup, XM_005248917.3:c.58_60dup, XM_005248917.2:c.58_60dup, XM_005248917.1:c.58_60dup, NM_153370.3:c.58_60dup, NM_153370.2:c.58_60dup, XM_017010430.3:c.58_60dup, XM_017010430.2:c.58_60dup, XM_017010430.1:c.58_60dup, NM_001199159.2:c.58_60dup, NM_001199159.1:c.58_60dup, XP_011512677.1:p.Ala20dup, XP_005248974.1:p.Ala20dup, NP_699201.2:p.Ala20dup, XP_016865919.1:p.Ala20dup, NP_001186088.1:p.Ala20dup

Select item 146753080116.

rs1467530801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:36959346 (GRCh38)
6:36927122 (GRCh37)
Canonical SPDI:: NC_000006.12:36959345:A:G
Gene:: PI16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000006.12:g.36959346A>G, NC_000006.11:g.36927122A>G, XM_011514375.4:c.373A>G, XM_011514375.3:c.373A>G, XM_011514375.2:c.373A>G, XM_011514375.1:c.373A>G, XM_005248917.4:c.373A>G, XM_005248917.3:c.373A>G, XM_005248917.2:c.373A>G, XM_005248917.1:c.373A>G, NM_153370.3:c.373A>G, NM_153370.2:c.373A>G, XM_017010430.3:c.373A>G, XM_017010430.2:c.373A>G, XM_017010430.1:c.373A>G, NM_001199159.2:c.373A>G, NM_001199159.1:c.373A>G, XP_011512677.1:p.Met125Val, XP_005248974.1:p.Met125Val, NP_699201.2:p.Met125Val, XP_016865919.1:p.Met125Val, NP_001186088.1:p.Met125Val

Select item 146743779917.

rs1467437799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36961552 (GRCh38)
6:36929328 (GRCh37)
Canonical SPDI:: NC_000006.12:36961551:T:C
Gene:: PI16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36961552T>C, NC_000006.11:g.36929328T>C, XM_011514375.4:c.495T>C, XM_011514375.3:c.495T>C, XM_011514375.2:c.495T>C, XM_011514375.1:c.495T>C, XM_005248917.4:c.495T>C, XM_005248917.3:c.495T>C, XM_005248917.2:c.495T>C, XM_005248917.1:c.495T>C, NM_153370.3:c.495T>C, NM_153370.2:c.495T>C, XM_017010430.3:c.495T>C, XM_017010430.2:c.495T>C, XM_017010430.1:c.495T>C, NM_001199159.2:c.495T>C, NM_001199159.1:c.495T>C

Select item 145844045618.

rs1458440456 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:36963076 (GRCh38)
6:36930852 (GRCh37)
Canonical SPDI:: NC_000006.12:36963075:T:
Gene:: PI16 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36963076del, NC_000006.11:g.36930852del, XM_011514375.4:c.734del, XM_011514375.3:c.734del, XM_011514375.2:c.734del, XM_011514375.1:c.734del, NM_153370.3:c.734del, NM_153370.2:c.734del, NM_001199159.2:c.734del, NM_001199159.1:c.734del, XP_011512677.1:p.Val245fs, NP_699201.2:p.Val245fs, NP_001186088.1:p.Val245fs

Select item 145830705819.

rs1458307058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:36959207 (GRCh38)
6:36926983 (GRCh37)
Canonical SPDI:: NC_000006.12:36959206:C:A
Gene:: PI16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36959207C>A, NC_000006.11:g.36926983C>A, XM_011514375.4:c.234C>A, XM_011514375.3:c.234C>A, XM_011514375.2:c.234C>A, XM_011514375.1:c.234C>A, XM_005248917.4:c.234C>A, XM_005248917.3:c.234C>A, XM_005248917.2:c.234C>A, XM_005248917.1:c.234C>A, NM_153370.3:c.234C>A, NM_153370.2:c.234C>A, XM_017010430.3:c.234C>A, XM_017010430.2:c.234C>A, XM_017010430.1:c.234C>A, NM_001199159.2:c.234C>A, NM_001199159.1:c.234C>A, XP_011512677.1:p.His78Gln, XP_005248974.1:p.His78Gln, NP_699201.2:p.His78Gln, XP_016865919.1:p.His78Gln, NP_001186088.1:p.His78Gln

Select item 145744390920.

rs1457443909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:36961949 (GRCh38)
6:36929725 (GRCh37)
Canonical SPDI:: NC_000006.12:36961948:C:G
Gene:: PI16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.36961949C>G, NC_000006.11:g.36929725C>G, XM_011514375.4:c.567C>G, XM_011514375.3:c.567C>G, XM_011514375.2:c.567C>G, XM_011514375.1:c.567C>G, XM_005248917.4:c.567C>G, XM_005248917.3:c.567C>G, XM_005248917.2:c.567C>G, XM_005248917.1:c.567C>G, NM_153370.3:c.567C>G, NM_153370.2:c.567C>G, XM_017010430.3:c.567C>G, XM_017010430.2:c.567C>G, XM_017010430.1:c.567C>G, NM_001199159.2:c.567C>G, NM_001199159.1:c.567C>G

dbSNP

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