SNP Links for Protein (Select 25777671) - SNP

Select item 14906121031.

rs1490612103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30601582 (GRCh38)
6:30569359 (GRCh37)
Canonical SPDI:: NC_000006.12:30601581:G:A
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30601582G>A, NC_000006.11:g.30569359G>A, NT_113891.3:g.2081306G>A, NT_113891.2:g.2081412G>A, NT_167248.2:g.1856671G>A, NT_167248.1:g.1862267G>A, NT_167245.2:g.1857412G>A, NT_167245.1:g.1862997G>A, NT_167249.2:g.1902340G>A, NT_167249.1:g.1901638G>A, NT_167246.2:g.1911811G>A, NT_167246.1:g.1917431G>A, NT_167247.2:g.1945629G>A, NT_167247.1:g.1951214G>A, NM_002714.4:c.2790C>T, NM_002714.3:c.2790C>T, XM_011514722.2:c.2790C>T, XM_011514722.1:c.2790C>T, NR_072994.2:n.3281C>T, NR_072994.1:n.3345C>T, NM_001376195.1:c.2790C>T

Select item 14903976632.

rs1490397663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30602416 (GRCh38)
6:30570193 (GRCh37)
Canonical SPDI:: NC_000006.12:30602415:T:C
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30602416T>C, NC_000006.11:g.30570193T>C, NT_113891.3:g.2082140T>C, NT_113891.2:g.2082246T>C, NT_167248.2:g.1857505T>C, NT_167248.1:g.1863101T>C, NT_167245.2:g.1858246T>C, NT_167245.1:g.1863831T>C, NT_167249.2:g.1903174T>C, NT_167249.1:g.1902472T>C, NT_167246.2:g.1912645T>C, NT_167246.1:g.1918265T>C, NT_167247.2:g.1946463T>C, NT_167247.1:g.1952048T>C, NM_002714.4:c.2233A>G, NM_002714.3:c.2233A>G, XM_011514722.2:c.2233A>G, XM_011514722.1:c.2233A>G, NR_072994.2:n.2724A>G, NR_072994.1:n.2788A>G, NM_001376195.1:c.2233A>G, NP_002705.2:p.Met745Val, XP_011513024.1:p.Met745Val, NP_001363124.1:p.Met745Val

Select item 14899067563.

rs1489906756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:30602689 (GRCh38)
6:30570466 (GRCh37)
Canonical SPDI:: NC_000006.12:30602688:G:A,NC_000006.12:30602688:G:T
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30602689G>A, NC_000006.12:g.30602689G>T, NC_000006.11:g.30570466G>A, NC_000006.11:g.30570466G>T, NT_113891.3:g.2082413G>A, NT_113891.3:g.2082413G>T, NT_113891.2:g.2082519G>A, NT_113891.2:g.2082519G>T, NT_167248.2:g.1857778G>A, NT_167248.2:g.1857778G>T, NT_167248.1:g.1863374G>A, NT_167248.1:g.1863374G>T, NT_167245.2:g.1858519G>A, NT_167245.2:g.1858519G>T, NT_167245.1:g.1864104G>A, NT_167245.1:g.1864104G>T, NT_167249.2:g.1903447G>A, NT_167249.2:g.1903447G>T, NT_167249.1:g.1902745G>A, NT_167249.1:g.1902745G>T, NT_167246.2:g.1912918G>A, NT_167246.2:g.1912918G>T, NT_167246.1:g.1918538G>A, NT_167246.1:g.1918538G>T, NT_167247.2:g.1946736G>A, NT_167247.2:g.1946736G>T, NT_167247.1:g.1952321G>A, NT_167247.1:g.1952321G>T, NM_002714.4:c.1960C>T, NM_002714.4:c.1960C>A, NM_002714.3:c.1960C>T, NM_002714.3:c.1960C>A, XM_011514722.2:c.1960C>T, XM_011514722.2:c.1960C>A, XM_011514722.1:c.1960C>T, XM_011514722.1:c.1960C>A, NR_072994.2:n.2451C>T, NR_072994.2:n.2451C>A, NR_072994.1:n.2515C>T, NR_072994.1:n.2515C>A, NM_001376195.1:c.1960C>T, NM_001376195.1:c.1960C>A, NP_002705.2:p.Pro654Ser, NP_002705.2:p.Pro654Thr, XP_011513024.1:p.Pro654Ser, XP_011513024.1:p.Pro654Thr, NP_001363124.1:p.Pro654Ser, NP_001363124.1:p.Pro654Thr

Select item 14893018374.

rs1489301837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:30604634 (GRCh38)
6:30572411 (GRCh37)
Canonical SPDI:: NC_000006.12:30604633:T:G
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30604634T>G, NC_000006.11:g.30572411T>G, NT_113891.3:g.2084358T>G, NT_113891.2:g.2084464T>G, NT_167248.2:g.1859723T>G, NT_167248.1:g.1865319T>G, NT_167245.2:g.1860464T>G, NT_167245.1:g.1866049T>G, NT_167249.2:g.1905392T>G, NT_167249.1:g.1904690T>G, NT_167246.2:g.1914863T>G, NT_167246.1:g.1920483T>G, NT_167247.2:g.1948681T>G, NT_167247.1:g.1954266T>G, NM_002714.4:c.1056A>C, NM_002714.3:c.1056A>C, XM_011514722.2:c.1056A>C, XM_011514722.1:c.1056A>C, NR_072994.2:n.1547A>C, NR_072994.1:n.1611A>C, NM_001376195.1:c.1056A>C

Select item 14869801545.

rs1486980154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:30602625 (GRCh38)
6:30570402 (GRCh37)
Canonical SPDI:: NC_000006.12:30602624:C:A,NC_000006.12:30602624:C:T
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30602625C>A, NC_000006.12:g.30602625C>T, NC_000006.11:g.30570402C>A, NC_000006.11:g.30570402C>T, NT_113891.3:g.2082349C>A, NT_113891.3:g.2082349C>T, NT_113891.2:g.2082455C>A, NT_113891.2:g.2082455C>T, NT_167248.2:g.1857714C>A, NT_167248.2:g.1857714C>T, NT_167248.1:g.1863310C>A, NT_167248.1:g.1863310C>T, NT_167245.2:g.1858455C>A, NT_167245.2:g.1858455C>T, NT_167245.1:g.1864040C>A, NT_167245.1:g.1864040C>T, NT_167249.2:g.1903383C>A, NT_167249.2:g.1903383C>T, NT_167249.1:g.1902681C>A, NT_167249.1:g.1902681C>T, NT_167246.2:g.1912854C>A, NT_167246.2:g.1912854C>T, NT_167246.1:g.1918474C>A, NT_167246.1:g.1918474C>T, NT_167247.2:g.1946672C>A, NT_167247.2:g.1946672C>T, NT_167247.1:g.1952257C>A, NT_167247.1:g.1952257C>T, NM_002714.4:c.2024G>T, NM_002714.4:c.2024G>A, NM_002714.3:c.2024G>T, NM_002714.3:c.2024G>A, XM_011514722.2:c.2024G>T, XM_011514722.2:c.2024G>A, XM_011514722.1:c.2024G>T, XM_011514722.1:c.2024G>A, NR_072994.2:n.2515G>T, NR_072994.2:n.2515G>A, NR_072994.1:n.2579G>T, NR_072994.1:n.2579G>A, NM_001376195.1:c.2024G>T, NM_001376195.1:c.2024G>A, NP_002705.2:p.Gly675Val, NP_002705.2:p.Gly675Glu, XP_011513024.1:p.Gly675Val, XP_011513024.1:p.Gly675Glu, NP_001363124.1:p.Gly675Val, NP_001363124.1:p.Gly675Glu

Select item 14866593756.

rs1486659375 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:30605084 (GRCh38)
6:30572862 (GRCh37)
Canonical SPDI:: NC_000006.12:30605084:CCC:CCCC
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
C=0./0 (PAGE_STUDY)
HGVS:: NC_000006.12:g.30605087dup, NC_000006.11:g.30572864dup, NT_113891.3:g.2084811dup, NT_113891.2:g.2084917dup, NT_167248.2:g.1860176dup, NT_167248.1:g.1865772dup, NT_167245.2:g.1860917dup, NT_167245.1:g.1866502dup, NT_167249.2:g.1905845dup, NT_167249.1:g.1905143dup, NT_167246.2:g.1915316dup, NT_167246.1:g.1920936dup, NT_167247.2:g.1949134dup, NT_167247.1:g.1954719dup, NM_002714.4:c.863dup, NM_002714.3:c.863dup, XM_011514722.2:c.863dup, XM_011514722.1:c.863dup, NR_072994.2:n.1415dup, NR_072994.1:n.1479dup, NM_001376195.1:c.863dup, NP_002705.2:p.Leu289fs, XP_011513024.1:p.Leu289fs, NP_001363124.1:p.Leu289fs

Select item 14837358847.

rs1483735884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:30603611 (GRCh38)
6:30571388 (GRCh37)
Canonical SPDI:: NC_000006.12:30603610:C:A,NC_000006.12:30603610:C:G
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30603611C>A, NC_000006.12:g.30603611C>G, NC_000006.11:g.30571388C>A, NC_000006.11:g.30571388C>G, NT_113891.3:g.2083335C>A, NT_113891.3:g.2083335C>G, NT_113891.2:g.2083441C>A, NT_113891.2:g.2083441C>G, NT_167248.2:g.1858700C>A, NT_167248.2:g.1858700C>G, NT_167248.1:g.1864296C>A, NT_167248.1:g.1864296C>G, NT_167245.2:g.1859441C>A, NT_167245.2:g.1859441C>G, NT_167245.1:g.1865026C>A, NT_167245.1:g.1865026C>G, NT_167249.2:g.1904369C>A, NT_167249.2:g.1904369C>G, NT_167249.1:g.1903667C>A, NT_167249.1:g.1903667C>G, NT_167246.2:g.1913840C>A, NT_167246.2:g.1913840C>G, NT_167246.1:g.1919460C>A, NT_167246.1:g.1919460C>G, NT_167247.2:g.1947658C>A, NT_167247.2:g.1947658C>G, NT_167247.1:g.1953243C>A, NT_167247.1:g.1953243C>G, NM_002714.4:c.1628G>T, NM_002714.4:c.1628G>C, NM_002714.3:c.1628G>T, NM_002714.3:c.1628G>C, XM_011514722.2:c.1628G>T, XM_011514722.2:c.1628G>C, XM_011514722.1:c.1628G>T, XM_011514722.1:c.1628G>C, NR_072994.2:n.2119G>T, NR_072994.2:n.2119G>C, NR_072994.1:n.2183G>T, NR_072994.1:n.2183G>C, NM_001376195.1:c.1628G>T, NM_001376195.1:c.1628G>C, NP_002705.2:p.Gly543Val, NP_002705.2:p.Gly543Ala, XP_011513024.1:p.Gly543Val, XP_011513024.1:p.Gly543Ala, NP_001363124.1:p.Gly543Val, NP_001363124.1:p.Gly543Ala

Select item 14830820728.

rs1483082072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30604665 (GRCh38)
6:30572442 (GRCh37)
Canonical SPDI:: NC_000006.12:30604664:G:A
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30604665G>A, NC_000006.11:g.30572442G>A, NT_113891.3:g.2084389G>A, NT_113891.2:g.2084495G>A, NT_167248.2:g.1859754G>A, NT_167248.1:g.1865350G>A, NT_167245.2:g.1860495G>A, NT_167245.1:g.1866080G>A, NT_167249.2:g.1905423G>A, NT_167249.1:g.1904721G>A, NT_167246.2:g.1914894G>A, NT_167246.1:g.1920514G>A, NT_167247.2:g.1948712G>A, NT_167247.1:g.1954297G>A, NM_002714.4:c.1025C>T, NM_002714.3:c.1025C>T, XM_011514722.2:c.1025C>T, XM_011514722.1:c.1025C>T, NR_072994.2:n.1516C>T, NR_072994.1:n.1580C>T, NM_001376195.1:c.1025C>T, NP_002705.2:p.Pro342Leu, XP_011513024.1:p.Pro342Leu, NP_001363124.1:p.Pro342Leu

Select item 14830788579.

rs1483078857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30604511 (GRCh38)
6:30572288 (GRCh37)
Canonical SPDI:: NC_000006.12:30604510:G:A
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30604511G>A, NC_000006.11:g.30572288G>A, NT_113891.3:g.2084235G>A, NT_113891.2:g.2084341G>A, NT_167248.2:g.1859600G>A, NT_167248.1:g.1865196G>A, NT_167245.2:g.1860341G>A, NT_167245.1:g.1865926G>A, NT_167249.2:g.1905269G>A, NT_167249.1:g.1904567G>A, NT_167246.2:g.1914740G>A, NT_167246.1:g.1920360G>A, NT_167247.2:g.1948558G>A, NT_167247.1:g.1954143G>A, NM_002714.4:c.1103C>T, NM_002714.3:c.1103C>T, XM_011514722.2:c.1103C>T, XM_011514722.1:c.1103C>T, NR_072994.2:n.1594C>T, NR_072994.1:n.1658C>T, NM_001376195.1:c.1103C>T, NP_002705.2:p.Ala368Val, XP_011513024.1:p.Ala368Val, NP_001363124.1:p.Ala368Val

Select item 147974612710.

rs1479746127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30608863 (GRCh38)
6:30576640 (GRCh37)
Canonical SPDI:: NC_000006.12:30608862:T:C
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000297/4 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000006.12:g.30608863T>C, NC_000006.11:g.30576640T>C, NT_113891.3:g.2088587T>C, NT_113891.2:g.2088693T>C, NT_167248.2:g.1863951T>C, NT_167248.1:g.1869547T>C, NT_167245.2:g.1864693T>C, NT_167245.1:g.1870278T>C, NT_167249.2:g.1909621T>C, NT_167249.1:g.1908919T>C, NT_167246.2:g.1919092T>C, NT_167246.1:g.1924712T>C, NT_167247.2:g.1952910T>C, NT_167247.1:g.1958495T>C, NM_002714.4:c.246A>G, NM_002714.3:c.246A>G, XM_011514722.2:c.246A>G, XM_011514722.1:c.246A>G, NR_072994.2:n.798A>G, NR_072994.1:n.862A>G, NM_001376195.1:c.246A>G

Select item 147970097311.

rs1479700973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30602233 (GRCh38)
6:30570010 (GRCh37)
Canonical SPDI:: NC_000006.12:30602232:C:T
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30602233C>T, NC_000006.11:g.30570010C>T, NT_113891.3:g.2081957C>T, NT_113891.2:g.2082063C>T, NT_167248.2:g.1857322C>T, NT_167248.1:g.1862918C>T, NT_167245.2:g.1858063C>T, NT_167245.1:g.1863648C>T, NT_167249.2:g.1902991C>T, NT_167249.1:g.1902289C>T, NT_167246.2:g.1912462C>T, NT_167246.1:g.1918082C>T, NT_167247.2:g.1946280C>T, NT_167247.1:g.1951865C>T, NM_002714.4:c.2416G>A, NM_002714.3:c.2416G>A, XM_011514722.2:c.2416G>A, XM_011514722.1:c.2416G>A, NR_072994.2:n.2907G>A, NR_072994.1:n.2971G>A, NM_001376195.1:c.2416G>A, NP_002705.2:p.Gly806Ser, XP_011513024.1:p.Gly806Ser, NP_001363124.1:p.Gly806Ser

Select item 147955110012.

rs1479551100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30602003 (GRCh38)
6:30569780 (GRCh37)
Canonical SPDI:: NC_000006.12:30602002:G:A
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000006.12:g.30602003G>A, NC_000006.11:g.30569780G>A, NT_113891.3:g.2081727G>A, NT_113891.2:g.2081833G>A, NT_167248.2:g.1857092G>A, NT_167248.1:g.1862688G>A, NT_167245.2:g.1857833G>A, NT_167245.1:g.1863418G>A, NT_167249.2:g.1902761G>A, NT_167249.1:g.1902059G>A, NT_167246.2:g.1912232G>A, NT_167246.1:g.1917852G>A, NT_167247.2:g.1946050G>A, NT_167247.1:g.1951635G>A, NM_002714.4:c.2646C>T, NM_002714.3:c.2646C>T, XM_011514722.2:c.2646C>T, XM_011514722.1:c.2646C>T, NR_072994.2:n.3137C>T, NR_072994.1:n.3201C>T, NM_001376195.1:c.2646C>T

Select item 147947905713.

rs1479479057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30602630 (GRCh38)
6:30570407 (GRCh37)
Canonical SPDI:: NC_000006.12:30602629:G:A
Gene:: PPP1R10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_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.30602630G>A, NC_000006.11:g.30570407G>A, NT_113891.3:g.2082354G>A, NT_113891.2:g.2082460G>A, NT_167248.2:g.1857719G>A, NT_167248.1:g.1863315G>A, NT_167245.2:g.1858460G>A, NT_167245.1:g.1864045G>A, NT_167249.2:g.1903388G>A, NT_167249.1:g.1902686G>A, NT_167246.2:g.1912859G>A, NT_167246.1:g.1918479G>A, NT_167247.2:g.1946677G>A, NT_167247.1:g.1952262G>A, NM_002714.4:c.2019C>T, NM_002714.3:c.2019C>T, XM_011514722.2:c.2019C>T, XM_011514722.1:c.2019C>T, NR_072994.2:n.2510C>T, NR_072994.1:n.2574C>T, NM_001376195.1:c.2019C>T

Select item 147697840214.

rs1476978402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:30602547 (GRCh38)
6:30570324 (GRCh37)
Canonical SPDI:: NC_000006.12:30602546:C:G,NC_000006.12:30602546:C:T
Gene:: PPP1R10 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30602547C>G, NC_000006.12:g.30602547C>T, NC_000006.11:g.30570324C>G, NC_000006.11:g.30570324C>T, NT_113891.3:g.2082271C>G, NT_113891.3:g.2082271C>T, NT_113891.2:g.2082377C>G, NT_113891.2:g.2082377C>T, NT_167248.2:g.1857636C>G, NT_167248.2:g.1857636C>T, NT_167248.1:g.1863232C>G, NT_167248.1:g.1863232C>T, NT_167245.2:g.1858377C>G, NT_167245.2:g.1858377C>T, NT_167245.1:g.1863962C>G, NT_167245.1:g.1863962C>T, NT_167249.2:g.1903305C>G, NT_167249.2:g.1903305C>T, NT_167249.1:g.1902603C>G, NT_167249.1:g.1902603C>T, NT_167246.2:g.1912776C>G, NT_167246.2:g.1912776C>T, NT_167246.1:g.1918396C>G, NT_167246.1:g.1918396C>T, NT_167247.2:g.1946594C>G, NT_167247.2:g.1946594C>T, NT_167247.1:g.1952179C>G, NT_167247.1:g.1952179C>T, NM_002714.4:c.2102G>C, NM_002714.4:c.2102G>A, NM_002714.3:c.2102G>C, NM_002714.3:c.2102G>A, XM_011514722.2:c.2102G>C, XM_011514722.2:c.2102G>A, XM_011514722.1:c.2102G>C, XM_011514722.1:c.2102G>A, NR_072994.2:n.2593G>C, NR_072994.2:n.2593G>A, NR_072994.1:n.2657G>C, NR_072994.1:n.2657G>A, NM_001376195.1:c.2102G>C, NM_001376195.1:c.2102G>A, NP_002705.2:p.Gly701Ala, NP_002705.2:p.Gly701Glu, XP_011513024.1:p.Gly701Ala, XP_011513024.1:p.Gly701Glu, NP_001363124.1:p.Gly701Ala, NP_001363124.1:p.Gly701Glu

Select item 147501314715.

rs1475013147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30603504 (GRCh38)
6:30571281 (GRCh37)
Canonical SPDI:: NC_000006.12:30603503:T:C
Gene:: PPP1R10 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30603504T>C, NC_000006.11:g.30571281T>C, NT_113891.3:g.2083228T>C, NT_113891.2:g.2083334T>C, NT_167248.2:g.1858593T>C, NT_167248.1:g.1864189T>C, NT_167245.2:g.1859334T>C, NT_167245.1:g.1864919T>C, NT_167249.2:g.1904262T>C, NT_167249.1:g.1903560T>C, NT_167246.2:g.1913733T>C, NT_167246.1:g.1919353T>C, NT_167247.2:g.1947551T>C, NT_167247.1:g.1953136T>C, NM_002714.4:c.1735A>G, NM_002714.3:c.1735A>G, XM_011514722.2:c.1735A>G, XM_011514722.1:c.1735A>G, NR_072994.2:n.2226A>G, NR_072994.1:n.2290A>G, NM_001376195.1:c.1735A>G, NP_002705.2:p.Ile579Val, XP_011513024.1:p.Ile579Val, NP_001363124.1:p.Ile579Val

Select item 147419856716.

rs1474198567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30602917 (GRCh38)
6:30570694 (GRCh37)
Canonical SPDI:: NC_000006.12:30602916:A:C
Gene:: PPP1R10 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30602917A>C, NC_000006.11:g.30570694A>C, NT_113891.3:g.2082641A>C, NT_113891.2:g.2082747A>C, NT_167248.2:g.1858006A>C, NT_167248.1:g.1863602A>C, NT_167245.2:g.1858747A>C, NT_167245.1:g.1864332A>C, NT_167249.2:g.1903675A>C, NT_167249.1:g.1902973A>C, NT_167246.2:g.1913146A>C, NT_167246.1:g.1918766A>C, NT_167247.2:g.1946964A>C, NT_167247.1:g.1952549A>C, NM_002714.4:c.1886T>G, NM_002714.3:c.1886T>G, XM_011514722.2:c.1886T>G, XM_011514722.1:c.1886T>G, NR_072994.2:n.2377T>G, NR_072994.1:n.2441T>G, NM_001376195.1:c.1886T>G, NP_002705.2:p.Phe629Cys, XP_011513024.1:p.Phe629Cys, NP_001363124.1:p.Phe629Cys

Select item 147309743317.

rs1473097433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:30609101 (GRCh38)
6:30576878 (GRCh37)
Canonical SPDI:: NC_000006.12:30609100:G:C
Gene:: PPP1R10 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30609101G>C, NC_000006.11:g.30576878G>C, NT_113891.3:g.2088825G>C, NT_113891.2:g.2088931G>C, NT_167248.2:g.1864189G>C, NT_167248.1:g.1869785G>C, NT_167245.2:g.1864931G>C, NT_167245.1:g.1870516G>C, NT_167249.2:g.1909859G>C, NT_167249.1:g.1909157G>C, NT_167246.2:g.1919330G>C, NT_167246.1:g.1924950G>C, NT_167247.2:g.1953148G>C, NT_167247.1:g.1958733G>C, NM_002714.4:c.170C>G, NM_002714.3:c.170C>G, XM_011514722.2:c.170C>G, XM_011514722.1:c.170C>G, NR_072994.2:n.722C>G, NR_072994.1:n.786C>G, NM_001376195.1:c.170C>G, NP_002705.2:p.Thr57Ser, XP_011513024.1:p.Thr57Ser, NP_001363124.1:p.Thr57Ser

Select item 147278343018.

rs1472783430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30602260 (GRCh38)
6:30570037 (GRCh37)
Canonical SPDI:: NC_000006.12:30602259:G:A
Gene:: PPP1R10 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30602260G>A, NC_000006.11:g.30570037G>A, NT_113891.3:g.2081984G>A, NT_113891.2:g.2082090G>A, NT_167248.2:g.1857349G>A, NT_167248.1:g.1862945G>A, NT_167245.2:g.1858090G>A, NT_167245.1:g.1863675G>A, NT_167249.2:g.1903018G>A, NT_167249.1:g.1902316G>A, NT_167246.2:g.1912489G>A, NT_167246.1:g.1918109G>A, NT_167247.2:g.1946307G>A, NT_167247.1:g.1951892G>A, NM_002714.4:c.2389C>T, NM_002714.3:c.2389C>T, XM_011514722.2:c.2389C>T, XM_011514722.1:c.2389C>T, NR_072994.2:n.2880C>T, NR_072994.1:n.2944C>T, NM_001376195.1:c.2389C>T, NP_002705.2:p.His797Tyr, XP_011513024.1:p.His797Tyr, NP_001363124.1:p.His797Tyr

Select item 147054560419.

rs1470545604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30609862 (GRCh38)
6:30577639 (GRCh37)
Canonical SPDI:: NC_000006.12:30609861:A:G
Gene:: PPP1R10 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30609862A>G, NC_000006.11:g.30577639A>G, NT_113891.3:g.2089586A>G, NT_113891.2:g.2089692A>G, NT_167248.2:g.1864950A>G, NT_167248.1:g.1870546A>G, NT_167245.2:g.1865692A>G, NT_167245.1:g.1871277A>G, NT_167249.2:g.1910620A>G, NT_167249.1:g.1909918A>G, NT_167246.2:g.1920091A>G, NT_167246.1:g.1925711A>G, NT_167247.2:g.1953909A>G, NT_167247.1:g.1959494A>G, NM_002714.4:c.83T>C, NM_002714.3:c.83T>C, XM_011514722.2:c.83T>C, XM_011514722.1:c.83T>C, NR_072994.2:n.635T>C, NR_072994.1:n.699T>C, NM_001376195.1:c.83T>C, NP_002705.2:p.Val28Ala, XP_011513024.1:p.Val28Ala, NP_001363124.1:p.Val28Ala

Select item 147029832220.

rs1470298322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30602305 (GRCh38)
6:30570082 (GRCh37)
Canonical SPDI:: NC_000006.12:30602304:G:A
Gene:: PPP1R10 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.30602305G>A, NC_000006.11:g.30570082G>A, NT_113891.3:g.2082029G>A, NT_113891.2:g.2082135G>A, NT_167248.2:g.1857394G>A, NT_167248.1:g.1862990G>A, NT_167245.2:g.1858135G>A, NT_167245.1:g.1863720G>A, NT_167249.2:g.1903063G>A, NT_167249.1:g.1902361G>A, NT_167246.2:g.1912534G>A, NT_167246.1:g.1918154G>A, NT_167247.2:g.1946352G>A, NT_167247.1:g.1951937G>A, NM_002714.4:c.2344C>T, NM_002714.3:c.2344C>T, XM_011514722.2:c.2344C>T, XM_011514722.1:c.2344C>T, NR_072994.2:n.2835C>T, NR_072994.1:n.2899C>T, NM_001376195.1:c.2344C>T, NP_002705.2:p.Arg782Cys, XP_011513024.1:p.Arg782Cys, NP_001363124.1:p.Arg782Cys

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Result Filters

Clinical Significance

Validation Status

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Global MAF

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Items: 1 to 20 of 840

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