SNP Links for Gene (Select 5514) - SNP

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Select item 14913963241.

rs1491396324 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:30601533 (GRCh38)
6:30569310 (GRCh37)
Canonical SPDI:: NC_000006.12:30601531:GGG:G
Gene:: PPP1R10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.30601533_30601534del, NC_000006.11:g.30569310_30569311del, NT_113891.3:g.2081257_2081258del, NT_113891.2:g.2081363_2081364del, NT_167248.2:g.1856622_1856623del, NT_167248.1:g.1862218_1862219del, NT_167245.2:g.1857363_1857364del, NT_167245.1:g.1862948_1862949del, NT_167249.2:g.1902291_1902292del, NT_167249.1:g.1901589_1901590del, NT_167246.2:g.1911762_1911763del, NT_167246.1:g.1917382_1917383del, NT_167247.2:g.1945580_1945581del, NT_167247.1:g.1951165_1951166del, NM_002714.4:c.*16_*17del, NM_002714.3:c.*16_*17del, XM_011514722.2:c.*16_*17del, XM_011514722.1:c.*16_*17del, NR_072994.2:n.3330_3331del, NR_072994.1:n.3394_3395del, NM_001376195.1:c.*16_*17del

Select item 14912161582.

rs1491216158 has merged into rs3216457 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 6:30600077 (GRCh38)
6:30567854 (GRCh37)
Canonical SPDI:: NC_000006.12:30600066:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:30600066:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:30600066:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:30600066:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:30600066:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: PPP1R10 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.10721/107 (GoNL)
A=0.125/5 (GENOME_DK)
A=0.17726/106 (NorthernSweden)
A=0.28398/4751 (TOMMO)
A=0.33147/1660 (1000Genomes)
HGVS:: NC_000006.12:g.30600077_30600079del, NC_000006.12:g.30600078_30600079del, NC_000006.12:g.30600079del, NC_000006.12:g.30600079dup, NC_000006.12:g.30600074_30600079dup, NC_000006.11:g.30567854_30567856del, NC_000006.11:g.30567855_30567856del, NC_000006.11:g.30567856del, NC_000006.11:g.30567856dup, NC_000006.11:g.30567851_30567856dup, NT_113891.3:g.2079803dup, NT_113891.3:g.2079802_2079803del, NT_113891.3:g.2079803del, NT_113891.3:g.2079802_2079803dup, NT_113891.3:g.2079797_2079803dup, NT_167248.2:g.1855168dup, NT_167248.2:g.1855167_1855168del, NT_167248.2:g.1855168del, NT_167248.2:g.1855167_1855168dup, NT_167248.2:g.1855162_1855168dup, NT_167245.2:g.1855909dup, NT_167245.2:g.1855908_1855909del, NT_167245.2:g.1855909del, NT_167245.2:g.1855908_1855909dup, NT_167245.2:g.1855903_1855909dup, NT_167249.2:g.1900835_1900837del, NT_167249.2:g.1900836_1900837del, NT_167249.2:g.1900837del, NT_167249.2:g.1900837dup, NT_167249.2:g.1900832_1900837dup, NT_167249.1:g.1900133_1900135del, NT_167249.1:g.1900134_1900135del, NT_167249.1:g.1900135del, NT_167249.1:g.1900135dup, NT_167249.1:g.1900130_1900135dup, NT_167246.2:g.1910308dup, NT_167246.2:g.1910307_1910308del, NT_167246.2:g.1910308del, NT_167246.2:g.1910307_1910308dup, NT_167246.2:g.1910302_1910308dup, NT_167247.2:g.1944126dup, NT_167247.2:g.1944125_1944126del, NT_167247.2:g.1944126del, NT_167247.2:g.1944125_1944126dup, NT_167247.2:g.1944120_1944126dup, NT_113891.2:g.2079909dup, NT_113891.2:g.2079908_2079909del, NT_113891.2:g.2079909del, NT_113891.2:g.2079908_2079909dup, NT_113891.2:g.2079903_2079909dup, NT_167248.1:g.1860764dup, NT_167248.1:g.1860763_1860764del, NT_167248.1:g.1860764del, NT_167248.1:g.1860763_1860764dup, NT_167248.1:g.1860758_1860764dup, NT_167245.1:g.1861494dup, NT_167245.1:g.1861493_1861494del, NT_167245.1:g.1861494del, NT_167245.1:g.1861493_1861494dup, NT_167245.1:g.1861488_1861494dup, NT_167246.1:g.1915928dup, NT_167246.1:g.1915927_1915928del, NT_167246.1:g.1915928del, NT_167246.1:g.1915927_1915928dup, NT_167246.1:g.1915922_1915928dup, NT_167247.1:g.1949711dup, NT_167247.1:g.1949710_1949711del, NT_167247.1:g.1949711del, NT_167247.1:g.1949710_1949711dup, NT_167247.1:g.1949705_1949711dup

Select item 14906200373.

rs1490620037 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30618077 (GRCh38)
6:30585854 (GRCh37)
Canonical SPDI:: NC_000006.12:30618076:A:C
Gene:: PPP1R10 (Varview), MRPS18B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00017/2 (ALFA)
C=0.00198/56 (TOMMO)
C=0.04087/119 (KOREAN)
HGVS:: NC_000006.12:g.30618077A>C, NC_000006.11:g.30585854A>C, NT_113891.3:g.2097801A>C, NT_113891.2:g.2097907A>C, NT_167248.2:g.1873165A>C, NT_167248.1:g.1878761A>C, NT_167245.2:g.1873907A>C, NT_167245.1:g.1879492A>C, NT_167249.2:g.1918835A>C, NT_167249.1:g.1918133A>C, NT_167246.2:g.1928306A>C, NT_167246.1:g.1933926A>C, NT_167247.2:g.1962125A>C, NT_167247.1:g.1967710A>C

Select item 14906121034.

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 14905525535.

rs1490552553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30617245 (GRCh38)
6:30585022 (GRCh37)
Canonical SPDI:: NC_000006.12:30617244:G:A
Gene:: PPP1R10 (Varview), MRPS18B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.30617245G>A, NC_000006.11:g.30585022G>A, NT_113891.3:g.2096969G>A, NT_113891.2:g.2097075G>A, NT_167248.2:g.1872333G>A, NT_167248.1:g.1877929G>A, NT_167245.2:g.1873075G>A, NT_167245.1:g.1878660G>A, NT_167249.2:g.1918003G>A, NT_167249.1:g.1917301G>A, NT_167246.2:g.1927474G>A, NT_167246.1:g.1933094G>A, NT_167247.2:g.1961293G>A, NT_167247.1:g.1966878G>A, NM_002714.3:c.-554C>T, NR_072994.1:n.63C>T

Select item 14905285266.

rs1490528526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30618942 (GRCh38)
6:30586719 (GRCh37)
Canonical SPDI:: NC_000006.12:30618941:G:A
Gene:: PPP1R10 (Varview), MRPS18B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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.30618942G>A, NC_000006.11:g.30586719G>A, NT_113891.3:g.2098666G>A, NT_113891.2:g.2098772G>A, NT_167248.2:g.1874030G>A, NT_167248.1:g.1879626G>A, NT_167245.2:g.1874772G>A, NT_167245.1:g.1880357G>A, NT_167249.2:g.1919700G>A, NT_167249.1:g.1918998G>A, NT_167246.2:g.1929171G>A, NT_167246.1:g.1934791G>A, NT_167247.2:g.1962990G>A, NT_167247.1:g.1968575G>A

Select item 14903976637.

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 14902260168.

rs1490226016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30611683 (GRCh38)
6:30579460 (GRCh37)
Canonical SPDI:: NC_000006.12:30611682:G:A
Gene:: PPP1R10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.30611683G>A, NC_000006.11:g.30579460G>A, NT_113891.3:g.2091407G>A, NT_113891.2:g.2091513G>A, NT_167248.2:g.1866771G>A, NT_167248.1:g.1872367G>A, NT_167245.2:g.1867513G>A, NT_167245.1:g.1873098G>A, NT_167249.2:g.1912441G>A, NT_167249.1:g.1911739G>A, NT_167246.2:g.1921912G>A, NT_167246.1:g.1927532G>A, NT_167247.2:g.1955730G>A, NT_167247.1:g.1961315G>A

Select item 14901062879.

rs1490106287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30601335 (GRCh38)
6:30569112 (GRCh37)
Canonical SPDI:: NC_000006.12:30601334:A:C
Gene:: PPP1R10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
C=0.000071/10 (GnomAD)
HGVS:: NC_000006.12:g.30601335A>C, NC_000006.11:g.30569112A>C, NT_113891.3:g.2081059A>C, NT_113891.2:g.2081165A>C, NT_167248.2:g.1856424A>C, NT_167248.1:g.1862020A>C, NT_167245.2:g.1857165A>C, NT_167245.1:g.1862750A>C, NT_167249.2:g.1902093A>C, NT_167249.1:g.1901391A>C, NT_167246.2:g.1911564A>C, NT_167246.1:g.1917184A>C, NT_167247.2:g.1945382A>C, NT_167247.1:g.1950967A>C, NM_002714.4:c.*214T>G, NM_002714.3:c.*214T>G, XM_011514722.2:c.*214T>G, XM_011514722.1:c.*214T>G, NR_072994.2:n.3528T>G, NR_072994.1:n.3592T>G, NM_001376195.1:c.*214T>G

Select item 149006988010.

rs1490069880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30603199 (GRCh38)
6:30570976 (GRCh37)
Canonical SPDI:: NC_000006.12:30603198:C:T
Gene:: PPP1R10 (Varview)
Functional Consequence:: genic_downstream_transcript_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)
HGVS:: NC_000006.12:g.30603199C>T, NC_000006.11:g.30570976C>T, NT_113891.3:g.2082923C>T, NT_113891.2:g.2083029C>T, NT_167248.2:g.1858288C>T, NT_167248.1:g.1863884C>T, NT_167245.2:g.1859029C>T, NT_167245.1:g.1864614C>T, NT_167249.2:g.1903957C>T, NT_167249.1:g.1903255C>T, NT_167246.2:g.1913428C>T, NT_167246.1:g.1919048C>T, NT_167247.2:g.1947246C>T, NT_167247.1:g.1952831C>T

Select item 148994380011.

rs1489943800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30600433 (GRCh38)
6:30568210 (GRCh37)
Canonical SPDI:: NC_000006.12:30600432:A:G
Gene:: PPP1R10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.30600433A>G, NC_000006.11:g.30568210A>G, NT_113891.3:g.2080157A>G, NT_113891.2:g.2080263A>G, NT_167248.2:g.1855522A>G, NT_167248.1:g.1861118A>G, NT_167245.2:g.1856263A>G, NT_167245.1:g.1861848A>G, NT_167249.2:g.1901191A>G, NT_167249.1:g.1900489A>G, NT_167246.2:g.1910662A>G, NT_167246.1:g.1916282A>G, NT_167247.2:g.1944480A>G, NT_167247.1:g.1950065A>G, NM_002714.4:c.*1116T>C, NM_002714.3:c.*1116T>C, XM_011514722.2:c.*1116T>C, XM_011514722.1:c.*1116T>C, NR_072994.2:n.4430T>C, NR_072994.1:n.4494T>C, NM_001376195.1:c.*1116T>C

Select item 148990675612.

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 148973822813.

rs1489738228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30613141 (GRCh38)
6:30580918 (GRCh37)
Canonical SPDI:: NC_000006.12:30613140:C:T
Gene:: PPP1R10 (Varview)
Functional Consequence:: genic_downstream_transcript_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)
HGVS:: NC_000006.12:g.30613141C>T, NC_000006.11:g.30580918C>T, NT_113891.3:g.2092865C>T, NT_113891.2:g.2092971C>T, NT_167248.2:g.1868229C>T, NT_167248.1:g.1873825C>T, NT_167245.2:g.1868971C>T, NT_167245.1:g.1874556C>T, NT_167249.2:g.1913899C>T, NT_167249.1:g.1913197C>T, NT_167246.2:g.1923370C>T, NT_167246.1:g.1928990C>T, NT_167247.2:g.1957188C>T, NT_167247.1:g.1962773C>T

Select item 148970078314.

rs1489700783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:30608949 (GRCh38)
6:30576726 (GRCh37)
Canonical SPDI:: NC_000006.12:30608948:C:G
Gene:: PPP1R10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30608949C>G, NC_000006.11:g.30576726C>G, NT_113891.3:g.2088673C>G, NT_113891.2:g.2088779C>G, NT_167248.2:g.1864037C>G, NT_167248.1:g.1869633C>G, NT_167245.2:g.1864779C>G, NT_167245.1:g.1870364C>G, NT_167249.2:g.1909707C>G, NT_167249.1:g.1909005C>G, NT_167246.2:g.1919178C>G, NT_167246.1:g.1924798C>G, NT_167247.2:g.1952996C>G, NT_167247.1:g.1958581C>G

Select item 148962414415.

rs1489624144 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 6:30618076 (GRCh38)
6:30585853 (GRCh37)
Canonical SPDI:: NC_000006.12:30618075:AA:A
Gene:: PPP1R10 (Varview), MRPS18B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000006.12:g.30618077del, NC_000006.11:g.30585854del, NT_113891.3:g.2097801del, NT_113891.2:g.2097907del, NT_167248.2:g.1873165del, NT_167248.1:g.1878761del, NT_167245.2:g.1873907del, NT_167245.1:g.1879492del, NT_167249.2:g.1918835del, NT_167249.1:g.1918133del, NT_167246.2:g.1928306del, NT_167246.1:g.1933926del, NT_167247.2:g.1962125del, NT_167247.1:g.1967710del

Select item 148958632616.

rs1489586326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:30608038 (GRCh38)
6:30575815 (GRCh37)
Canonical SPDI:: NC_000006.12:30608037:G:C
Gene:: PPP1R10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.30608038G>C, NC_000006.11:g.30575815G>C, NT_113891.3:g.2087762G>C, NT_113891.2:g.2087868G>C, NT_167248.2:g.1863126G>C, NT_167248.1:g.1868722G>C, NT_167245.2:g.1863868G>C, NT_167245.1:g.1869453G>C, NT_167249.2:g.1908796G>C, NT_167249.1:g.1908094G>C, NT_167246.2:g.1918267G>C, NT_167246.1:g.1923887G>C, NT_167247.2:g.1952085G>C, NT_167247.1:g.1957670G>C

Select item 148948928917.

rs1489489289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:30604925 (GRCh38)
6:30572702 (GRCh37)
Canonical SPDI:: NC_000006.12:30604924:C:A
Gene:: PPP1R10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30604925C>A, NC_000006.11:g.30572702C>A, NT_113891.3:g.2084649C>A, NT_113891.2:g.2084755C>A, NT_167248.2:g.1860014C>A, NT_167248.1:g.1865610C>A, NT_167245.2:g.1860755C>A, NT_167245.1:g.1866340C>A, NT_167249.2:g.1905683C>A, NT_167249.1:g.1904981C>A, NT_167246.2:g.1915154C>A, NT_167246.1:g.1920774C>A, NT_167247.2:g.1948972C>A, NT_167247.1:g.1954557C>A

Select item 148937301418.

rs1489373014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:30603730 (GRCh38)
6:30571507 (GRCh37)
Canonical SPDI:: NC_000006.12:30603729:C:A
Gene:: PPP1R10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.30603730C>A, NC_000006.11:g.30571507C>A, NT_113891.3:g.2083454C>A, NT_113891.2:g.2083560C>A, NT_167248.2:g.1858819C>A, NT_167248.1:g.1864415C>A, NT_167245.2:g.1859560C>A, NT_167245.1:g.1865145C>A, NT_167249.2:g.1904488C>A, NT_167249.1:g.1903786C>A, NT_167246.2:g.1913959C>A, NT_167246.1:g.1919579C>A, NT_167247.2:g.1947777C>A, NT_167247.1:g.1953362C>A

Select item 148932351919.

rs1489323519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:30614998 (GRCh38)
6:30582775 (GRCh37)
Canonical SPDI:: NC_000006.12:30614997:G:T
Gene:: PPP1R10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30614998G>T, NC_000006.11:g.30582775G>T, NT_113891.3:g.2094722G>T, NT_113891.2:g.2094828G>T, NT_167248.2:g.1870086G>T, NT_167248.1:g.1875682G>T, NT_167245.2:g.1870828G>T, NT_167245.1:g.1876413G>T, NT_167249.2:g.1915756G>T, NT_167249.1:g.1915054G>T, NT_167246.2:g.1925227G>T, NT_167246.1:g.1930847G>T, NT_167247.2:g.1959045G>T, NT_167247.1:g.1964630G>T

Select item 148930183720.

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

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