SNP Links for Protein (Select 530380397) - SNP

Links from Protein

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Select item 14899456961.

rs1489945696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149836518 (GRCh38)
5:149216081 (GRCh37)
Canonical SPDI:: NC_000005.10:149836517:C:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149836518C>T, NC_000005.9:g.149216081C>T, NG_016747.1:g.111267C>T, NM_133263.4:c.2063C>T, NM_133263.3:c.2063C>T, NM_001172699.2:c.1871C>T, NM_001172699.1:c.1871C>T, NM_001172698.2:c.1946C>T, NM_001172698.1:c.1946C>T, XM_005268372.4:c.2000C>T, XM_005268372.3:c.2000C>T, XM_005268372.2:c.2000C>T, XM_005268372.1:c.2000C>T, XM_011537554.3:c.2000C>T, XM_011537554.2:c.2000C>T, XM_011537554.1:c.2000C>T, XM_011537553.3:c.2063C>T, XM_011537553.2:c.2063C>T, XM_011537553.1:c.2063C>T, XM_011537555.3:c.1946C>T, XM_011537555.2:c.1946C>T, XM_011537555.1:c.1946C>T, NP_573570.3:p.Ser688Phe, NP_001166170.1:p.Ser624Phe, NP_001166169.1:p.Ser649Phe, XP_005268429.1:p.Ser667Phe, XP_011535856.1:p.Ser667Phe, XP_011535855.1:p.Ser688Phe, XP_011535857.1:p.Ser649Phe

Select item 14885292782.

rs1488529278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149832835 (GRCh38)
5:149212398 (GRCh37)
Canonical SPDI:: NC_000005.10:149832834:C:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149832835C>T, NC_000005.9:g.149212398C>T, NG_016747.1:g.107584C>T, NM_133263.4:c.762C>T, NM_133263.3:c.762C>T, NM_001172699.2:c.570C>T, NM_001172699.1:c.570C>T, NM_001172698.2:c.645C>T, NM_001172698.1:c.645C>T, XM_005268372.4:c.699C>T, XM_005268372.3:c.699C>T, XM_005268372.2:c.699C>T, XM_005268372.1:c.699C>T, XM_011537554.3:c.699C>T, XM_011537554.2:c.699C>T, XM_011537554.1:c.699C>T, XM_011537553.3:c.762C>T, XM_011537553.2:c.762C>T, XM_011537553.1:c.762C>T, XM_011537555.3:c.645C>T, XM_011537555.2:c.645C>T, XM_011537555.1:c.645C>T, XM_011537557.2:c.762C>T, XM_011537557.1:c.762C>T

Select item 14881858213.

rs1488185821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:149836452 (GRCh38)
5:149216015 (GRCh37)
Canonical SPDI:: NC_000005.10:149836451:C:G,NC_000005.10:149836451:C:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149836452C>G, NC_000005.10:g.149836452C>T, NC_000005.9:g.149216015C>G, NC_000005.9:g.149216015C>T, NG_016747.1:g.111201C>G, NG_016747.1:g.111201C>T, NM_133263.4:c.1997C>G, NM_133263.4:c.1997C>T, NM_133263.3:c.1997C>G, NM_133263.3:c.1997C>T, NM_001172699.2:c.1805C>G, NM_001172699.2:c.1805C>T, NM_001172699.1:c.1805C>G, NM_001172699.1:c.1805C>T, NM_001172698.2:c.1880C>G, NM_001172698.2:c.1880C>T, NM_001172698.1:c.1880C>G, NM_001172698.1:c.1880C>T, XM_005268372.4:c.1934C>G, XM_005268372.4:c.1934C>T, XM_005268372.3:c.1934C>G, XM_005268372.3:c.1934C>T, XM_005268372.2:c.1934C>G, XM_005268372.2:c.1934C>T, XM_005268372.1:c.1934C>G, XM_005268372.1:c.1934C>T, XM_011537554.3:c.1934C>G, XM_011537554.3:c.1934C>T, XM_011537554.2:c.1934C>G, XM_011537554.2:c.1934C>T, XM_011537554.1:c.1934C>G, XM_011537554.1:c.1934C>T, XM_011537553.3:c.1997C>G, XM_011537553.3:c.1997C>T, XM_011537553.2:c.1997C>G, XM_011537553.2:c.1997C>T, XM_011537553.1:c.1997C>G, XM_011537553.1:c.1997C>T, XM_011537555.3:c.1880C>G, XM_011537555.3:c.1880C>T, XM_011537555.2:c.1880C>G, XM_011537555.2:c.1880C>T, XM_011537555.1:c.1880C>G, XM_011537555.1:c.1880C>T, NP_573570.3:p.Ser666Cys, NP_573570.3:p.Ser666Phe, NP_001166170.1:p.Ser602Cys, NP_001166170.1:p.Ser602Phe, NP_001166169.1:p.Ser627Cys, NP_001166169.1:p.Ser627Phe, XP_005268429.1:p.Ser645Cys, XP_005268429.1:p.Ser645Phe, XP_011535856.1:p.Ser645Cys, XP_011535856.1:p.Ser645Phe, XP_011535855.1:p.Ser666Cys, XP_011535855.1:p.Ser666Phe, XP_011535857.1:p.Ser627Cys, XP_011535857.1:p.Ser627Phe

Select item 14864635174.

rs1486463517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149836381 (GRCh38)
5:149215944 (GRCh37)
Canonical SPDI:: NC_000005.10:149836380:C:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149836381C>T, NC_000005.9:g.149215944C>T, NG_016747.1:g.111130C>T, NM_133263.4:c.1926C>T, NM_133263.3:c.1926C>T, NM_001172699.2:c.1734C>T, NM_001172699.1:c.1734C>T, NM_001172698.2:c.1809C>T, NM_001172698.1:c.1809C>T, XM_005268372.4:c.1863C>T, XM_005268372.3:c.1863C>T, XM_005268372.2:c.1863C>T, XM_005268372.1:c.1863C>T, XM_011537554.3:c.1863C>T, XM_011537554.2:c.1863C>T, XM_011537554.1:c.1863C>T, XM_011537553.3:c.1926C>T, XM_011537553.2:c.1926C>T, XM_011537553.1:c.1926C>T, XM_011537555.3:c.1809C>T, XM_011537555.2:c.1809C>T, XM_011537555.1:c.1809C>T

Select item 14862483765.

rs1486248376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149832709 (GRCh38)
5:149212272 (GRCh37)
Canonical SPDI:: NC_000005.10:149832708:T:C
Gene:: PPARGC1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000017/4 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.149832709T>C, NC_000005.9:g.149212272T>C, NG_016747.1:g.107458T>C, NM_133263.4:c.636T>C, NM_133263.3:c.636T>C, NM_001172699.2:c.444T>C, NM_001172699.1:c.444T>C, NM_001172698.2:c.519T>C, NM_001172698.1:c.519T>C, XM_005268372.4:c.573T>C, XM_005268372.3:c.573T>C, XM_005268372.2:c.573T>C, XM_005268372.1:c.573T>C, XM_011537554.3:c.573T>C, XM_011537554.2:c.573T>C, XM_011537554.1:c.573T>C, XM_011537553.3:c.636T>C, XM_011537553.2:c.636T>C, XM_011537553.1:c.636T>C, XM_011537555.3:c.519T>C, XM_011537555.2:c.519T>C, XM_011537555.1:c.519T>C, XM_011537557.2:c.636T>C, XM_011537557.1:c.636T>C

Select item 14843997056.

rs1484399705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149832970 (GRCh38)
5:149212533 (GRCh37)
Canonical SPDI:: NC_000005.10:149832969:C:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000062/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.149832970C>T, NC_000005.9:g.149212533C>T, NG_016747.1:g.107719C>T, NM_133263.4:c.897C>T, NM_133263.3:c.897C>T, NM_001172699.2:c.705C>T, NM_001172699.1:c.705C>T, NM_001172698.2:c.780C>T, NM_001172698.1:c.780C>T, XM_005268372.4:c.834C>T, XM_005268372.3:c.834C>T, XM_005268372.2:c.834C>T, XM_005268372.1:c.834C>T, XM_011537554.3:c.834C>T, XM_011537554.2:c.834C>T, XM_011537554.1:c.834C>T, XM_011537553.3:c.897C>T, XM_011537553.2:c.897C>T, XM_011537553.1:c.897C>T, XM_011537555.3:c.780C>T, XM_011537555.2:c.780C>T, XM_011537555.1:c.780C>T, XM_011537557.2:c.897C>T, XM_011537557.1:c.897C>T

Select item 14840604247.

rs1484060424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:149836670 (GRCh38)
5:149216233 (GRCh37)
Canonical SPDI:: NC_000005.10:149836669:G:A
Gene:: PPARGC1B (Varview)
Functional Consequence:: downstream_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 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.149836670G>A, NC_000005.9:g.149216233G>A, NG_016747.1:g.111419G>A, NM_133263.4:c.2215G>A, NM_133263.3:c.2215G>A, NM_001172699.2:c.2023G>A, NM_001172699.1:c.2023G>A, NM_001172698.2:c.2098G>A, NM_001172698.1:c.2098G>A, XM_005268372.4:c.2152G>A, XM_005268372.3:c.2152G>A, XM_005268372.2:c.2152G>A, XM_005268372.1:c.2152G>A, XM_011537554.3:c.2152G>A, XM_011537554.2:c.2152G>A, XM_011537554.1:c.2152G>A, XM_011537553.3:c.2215G>A, XM_011537553.2:c.2215G>A, XM_011537553.1:c.2215G>A, XM_011537555.3:c.2098G>A, XM_011537555.2:c.2098G>A, XM_011537555.1:c.2098G>A, NP_573570.3:p.Glu739Lys, NP_001166170.1:p.Glu675Lys, NP_001166169.1:p.Glu700Lys, XP_005268429.1:p.Glu718Lys, XP_011535856.1:p.Glu718Lys, XP_011535855.1:p.Glu739Lys, XP_011535857.1:p.Glu700Lys

Select item 14830274488.

rs1483027448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:149845774 (GRCh38)
5:149225337 (GRCh37)
Canonical SPDI:: NC_000005.10:149845773:G:A
Gene:: PPARGC1B (Varview)
Functional Consequence:: 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_000005.10:g.149845774G>A, NC_000005.9:g.149225337G>A, NG_016747.1:g.120523G>A, NM_133263.4:c.2831G>A, NM_133263.3:c.2831G>A, NM_001172699.2:c.2639G>A, NM_001172699.1:c.2639G>A, NM_001172698.2:c.2714G>A, NM_001172698.1:c.2714G>A, XM_005268372.4:c.2768G>A, XM_005268372.3:c.2768G>A, XM_005268372.2:c.2768G>A, XM_005268372.1:c.2768G>A, XM_011537554.3:c.2768G>A, XM_011537554.2:c.2768G>A, XM_011537554.1:c.2768G>A, XM_011537553.3:c.2831G>A, XM_011537553.2:c.2831G>A, XM_011537553.1:c.2831G>A, XM_011537555.3:c.2714G>A, XM_011537555.2:c.2714G>A, XM_011537555.1:c.2714G>A, NP_573570.3:p.Gly944Asp, NP_001166170.1:p.Gly880Asp, NP_001166169.1:p.Gly905Asp, XP_005268429.1:p.Gly923Asp, XP_011535856.1:p.Gly923Asp, XP_011535855.1:p.Gly944Asp, XP_011535857.1:p.Gly905Asp

Select item 14814405539.

rs1481440553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:149826883 (GRCh38)
5:149206446 (GRCh37)
Canonical SPDI:: NC_000005.10:149826882:C:G
Gene:: PPARGC1B (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_000005.10:g.149826883C>G, NC_000005.9:g.149206446C>G, NG_016747.1:g.101632C>G, NM_133263.4:c.463C>G, NM_133263.3:c.463C>G, NM_001172699.2:c.388C>G, NM_001172699.1:c.388C>G, NM_001172698.2:c.463C>G, NM_001172698.1:c.463C>G, XM_005268372.4:c.400C>G, XM_005268372.3:c.400C>G, XM_005268372.2:c.400C>G, XM_005268372.1:c.400C>G, XM_011537554.3:c.400C>G, XM_011537554.2:c.400C>G, XM_011537554.1:c.400C>G, XM_011537553.3:c.463C>G, XM_011537553.2:c.463C>G, XM_011537553.1:c.463C>G, XM_011537555.3:c.463C>G, XM_011537555.2:c.463C>G, XM_011537555.1:c.463C>G, XM_011537557.2:c.463C>G, XM_011537557.1:c.463C>G, NP_573570.3:p.Leu155Val, NP_001166170.1:p.Leu130Val, NP_001166169.1:p.Leu155Val, XP_005268429.1:p.Leu134Val, XP_011535856.1:p.Leu134Val, XP_011535855.1:p.Leu155Val, XP_011535857.1:p.Leu155Val, XP_011535859.1:p.Leu155Val

Select item 148022371610.

rs1480223716 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:149833772 (GRCh38)
5:149213335 (GRCh37)
Canonical SPDI:: NC_000005.10:149833771:CCC:CC
Gene:: PPARGC1B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149833774del, NC_000005.9:g.149213337del, NG_016747.1:g.108523del, NM_133263.4:c.1701del, NM_133263.3:c.1701del, NM_001172699.2:c.1509del, NM_001172699.1:c.1509del, NM_001172698.2:c.1584del, NM_001172698.1:c.1584del, XM_005268372.4:c.1638del, XM_005268372.3:c.1638del, XM_005268372.2:c.1638del, XM_005268372.1:c.1638del, XM_011537554.3:c.1638del, XM_011537554.2:c.1638del, XM_011537554.1:c.1638del, XM_011537553.3:c.1701del, XM_011537553.2:c.1701del, XM_011537553.1:c.1701del, XM_011537555.3:c.1584del, XM_011537555.2:c.1584del, XM_011537555.1:c.1584del, XM_011537557.2:c.1701del, XM_011537557.1:c.1701del, NP_573570.3:p.Arg568fs, NP_001166170.1:p.Arg504fs, NP_001166169.1:p.Arg529fs, XP_005268429.1:p.Arg547fs, XP_011535856.1:p.Arg547fs, XP_011535855.1:p.Arg568fs, XP_011535857.1:p.Arg529fs, XP_011535859.1:p.Arg568fs

Select item 147981570611.

rs1479815706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149833537 (GRCh38)
5:149213100 (GRCh37)
Canonical SPDI:: NC_000005.10:149833536:C:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.149833537C>T, NC_000005.9:g.149213100C>T, NG_016747.1:g.108286C>T, NM_133263.4:c.1464C>T, NM_133263.3:c.1464C>T, NM_001172699.2:c.1272C>T, NM_001172699.1:c.1272C>T, NM_001172698.2:c.1347C>T, NM_001172698.1:c.1347C>T, XM_005268372.4:c.1401C>T, XM_005268372.3:c.1401C>T, XM_005268372.2:c.1401C>T, XM_005268372.1:c.1401C>T, XM_011537554.3:c.1401C>T, XM_011537554.2:c.1401C>T, XM_011537554.1:c.1401C>T, XM_011537553.3:c.1464C>T, XM_011537553.2:c.1464C>T, XM_011537553.1:c.1464C>T, XM_011537555.3:c.1347C>T, XM_011537555.2:c.1347C>T, XM_011537555.1:c.1347C>T, XM_011537557.2:c.1464C>T, XM_011537557.1:c.1464C>T

Select item 147976675212.

rs1479766752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149836291 (GRCh38)
5:149215854 (GRCh37)
Canonical SPDI:: NC_000005.10:149836290:C:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.149836291C>T, NC_000005.9:g.149215854C>T, NG_016747.1:g.111040C>T, NM_133263.4:c.1836C>T, NM_133263.3:c.1836C>T, NM_001172699.2:c.1644C>T, NM_001172699.1:c.1644C>T, NM_001172698.2:c.1719C>T, NM_001172698.1:c.1719C>T, XM_005268372.4:c.1773C>T, XM_005268372.3:c.1773C>T, XM_005268372.2:c.1773C>T, XM_005268372.1:c.1773C>T, XM_011537554.3:c.1773C>T, XM_011537554.2:c.1773C>T, XM_011537554.1:c.1773C>T, XM_011537553.3:c.1836C>T, XM_011537553.2:c.1836C>T, XM_011537553.1:c.1836C>T, XM_011537555.3:c.1719C>T, XM_011537555.2:c.1719C>T, XM_011537555.1:c.1719C>T, XM_011537557.2:c.*53C>T, XM_011537557.1:c.*53C>T

Select item 147891764713.

rs1478917647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:149842271 (GRCh38)
5:149221834 (GRCh37)
Canonical SPDI:: NC_000005.10:149842270:G:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149842271G>T, NC_000005.9:g.149221834G>T, NG_016747.1:g.117020G>T, NM_133263.4:c.2710G>T, NM_133263.3:c.2710G>T, NM_001172699.2:c.2518G>T, NM_001172699.1:c.2518G>T, NM_001172698.2:c.2593G>T, NM_001172698.1:c.2593G>T, XM_005268372.4:c.2647G>T, XM_005268372.3:c.2647G>T, XM_005268372.2:c.2647G>T, XM_005268372.1:c.2647G>T, XM_011537554.3:c.2647G>T, XM_011537554.2:c.2647G>T, XM_011537554.1:c.2647G>T, XM_011537553.3:c.2710G>T, XM_011537553.2:c.2710G>T, XM_011537553.1:c.2710G>T, XM_011537555.3:c.2593G>T, XM_011537555.2:c.2593G>T, XM_011537555.1:c.2593G>T, NP_573570.3:p.Val904Leu, NP_001166170.1:p.Val840Leu, NP_001166169.1:p.Val865Leu, XP_005268429.1:p.Val883Leu, XP_011535856.1:p.Val883Leu, XP_011535855.1:p.Val904Leu, XP_011535857.1:p.Val865Leu

Select item 147865043614.

rs1478650436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149847510 (GRCh38)
5:149227073 (GRCh37)
Canonical SPDI:: NC_000005.10:149847509:C:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149847510C>T, NC_000005.9:g.149227073C>T, NG_016747.1:g.122259C>T, NM_133263.4:c.3024C>T, NM_133263.3:c.3024C>T, NM_001172699.2:c.2832C>T, NM_001172699.1:c.2832C>T, NM_001172698.2:c.2907C>T, NM_001172698.1:c.2907C>T, XM_005268372.4:c.2961C>T, XM_005268372.3:c.2961C>T, XM_005268372.2:c.2961C>T, XM_005268372.1:c.2961C>T

Select item 147793561815.

rs1477935618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:149833435 (GRCh38)
5:149212998 (GRCh37)
Canonical SPDI:: NC_000005.10:149833434:A:G
Gene:: PPARGC1B (Varview)
Functional Consequence:: synonymous_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_000005.10:g.149833435A>G, NC_000005.9:g.149212998A>G, NG_016747.1:g.108184A>G, NM_133263.4:c.1362A>G, NM_133263.3:c.1362A>G, NM_001172699.2:c.1170A>G, NM_001172699.1:c.1170A>G, NM_001172698.2:c.1245A>G, NM_001172698.1:c.1245A>G, XM_005268372.4:c.1299A>G, XM_005268372.3:c.1299A>G, XM_005268372.2:c.1299A>G, XM_005268372.1:c.1299A>G, XM_011537554.3:c.1299A>G, XM_011537554.2:c.1299A>G, XM_011537554.1:c.1299A>G, XM_011537553.3:c.1362A>G, XM_011537553.2:c.1362A>G, XM_011537553.1:c.1362A>G, XM_011537555.3:c.1245A>G, XM_011537555.2:c.1245A>G, XM_011537555.1:c.1245A>G, XM_011537557.2:c.1362A>G, XM_011537557.1:c.1362A>G

Select item 147731618816.

rs1477316188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:149833151 (GRCh38)
5:149212714 (GRCh37)
Canonical SPDI:: NC_000005.10:149833150:C:G,NC_000005.10:149833150:C:T
Gene:: PPARGC1B (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)
HGVS:: NC_000005.10:g.149833151C>G, NC_000005.10:g.149833151C>T, NC_000005.9:g.149212714C>G, NC_000005.9:g.149212714C>T, NG_016747.1:g.107900C>G, NG_016747.1:g.107900C>T, NM_133263.4:c.1078C>G, NM_133263.4:c.1078C>T, NM_133263.3:c.1078C>G, NM_133263.3:c.1078C>T, NM_001172699.2:c.886C>G, NM_001172699.2:c.886C>T, NM_001172699.1:c.886C>G, NM_001172699.1:c.886C>T, NM_001172698.2:c.961C>G, NM_001172698.2:c.961C>T, NM_001172698.1:c.961C>G, NM_001172698.1:c.961C>T, XM_005268372.4:c.1015C>G, XM_005268372.4:c.1015C>T, XM_005268372.3:c.1015C>G, XM_005268372.3:c.1015C>T, XM_005268372.2:c.1015C>G, XM_005268372.2:c.1015C>T, XM_005268372.1:c.1015C>G, XM_005268372.1:c.1015C>T, XM_011537554.3:c.1015C>G, XM_011537554.3:c.1015C>T, XM_011537554.2:c.1015C>G, XM_011537554.2:c.1015C>T, XM_011537554.1:c.1015C>G, XM_011537554.1:c.1015C>T, XM_011537553.3:c.1078C>G, XM_011537553.3:c.1078C>T, XM_011537553.2:c.1078C>G, XM_011537553.2:c.1078C>T, XM_011537553.1:c.1078C>G, XM_011537553.1:c.1078C>T, XM_011537555.3:c.961C>G, XM_011537555.3:c.961C>T, XM_011537555.2:c.961C>G, XM_011537555.2:c.961C>T, XM_011537555.1:c.961C>G, XM_011537555.1:c.961C>T, XM_011537557.2:c.1078C>G, XM_011537557.2:c.1078C>T, XM_011537557.1:c.1078C>G, XM_011537557.1:c.1078C>T, NP_573570.3:p.Arg360Gly, NP_573570.3:p.Arg360Cys, NP_001166170.1:p.Arg296Gly, NP_001166170.1:p.Arg296Cys, NP_001166169.1:p.Arg321Gly, NP_001166169.1:p.Arg321Cys, XP_005268429.1:p.Arg339Gly, XP_005268429.1:p.Arg339Cys, XP_011535856.1:p.Arg339Gly, XP_011535856.1:p.Arg339Cys, XP_011535855.1:p.Arg360Gly, XP_011535855.1:p.Arg360Cys, XP_011535857.1:p.Arg321Gly, XP_011535857.1:p.Arg321Cys, XP_011535859.1:p.Arg360Gly, XP_011535859.1:p.Arg360Cys

Select item 147535910117.

rs1475359101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:149833639 (GRCh38)
5:149213202 (GRCh37)
Canonical SPDI:: NC_000005.10:149833638:G:A
Gene:: PPARGC1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.149833639G>A, NC_000005.9:g.149213202G>A, NG_016747.1:g.108388G>A, NM_133263.4:c.1566G>A, NM_133263.3:c.1566G>A, NM_001172699.2:c.1374G>A, NM_001172699.1:c.1374G>A, NM_001172698.2:c.1449G>A, NM_001172698.1:c.1449G>A, XM_005268372.4:c.1503G>A, XM_005268372.3:c.1503G>A, XM_005268372.2:c.1503G>A, XM_005268372.1:c.1503G>A, XM_011537554.3:c.1503G>A, XM_011537554.2:c.1503G>A, XM_011537554.1:c.1503G>A, XM_011537553.3:c.1566G>A, XM_011537553.2:c.1566G>A, XM_011537553.1:c.1566G>A, XM_011537555.3:c.1449G>A, XM_011537555.2:c.1449G>A, XM_011537555.1:c.1449G>A, XM_011537557.2:c.1566G>A, XM_011537557.1:c.1566G>A

Select item 147503365118.

rs1475033651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:149820481 (GRCh38)
5:149200044 (GRCh37)
Canonical SPDI:: NC_000005.10:149820480:G:A,NC_000005.10:149820480:G:C,NC_000005.10:149820480:G:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
C=0.000354/6 (TOMMO)
HGVS:: NC_000005.10:g.149820481G>A, NC_000005.10:g.149820481G>C, NC_000005.10:g.149820481G>T, NC_000005.9:g.149200044G>A, NC_000005.9:g.149200044G>C, NC_000005.9:g.149200044G>T, NG_016747.1:g.95230G>A, NG_016747.1:g.95230G>C, NG_016747.1:g.95230G>T, NM_133263.4:c.127G>A, NM_133263.4:c.127G>C, NM_133263.4:c.127G>T, NM_133263.3:c.127G>A, NM_133263.3:c.127G>C, NM_133263.3:c.127G>T, NM_001172699.2:c.52G>A, NM_001172699.2:c.52G>C, NM_001172699.2:c.52G>T, NM_001172699.1:c.52G>A, NM_001172699.1:c.52G>C, NM_001172699.1:c.52G>T, NM_001172698.2:c.127G>A, NM_001172698.2:c.127G>C, NM_001172698.2:c.127G>T, NM_001172698.1:c.127G>A, NM_001172698.1:c.127G>C, NM_001172698.1:c.127G>T, XM_005268372.4:c.64G>A, XM_005268372.4:c.64G>C, XM_005268372.4:c.64G>T, XM_005268372.3:c.64G>A, XM_005268372.3:c.64G>C, XM_005268372.3:c.64G>T, XM_005268372.2:c.64G>A, XM_005268372.2:c.64G>C, XM_005268372.2:c.64G>T, XM_005268372.1:c.64G>A, XM_005268372.1:c.64G>C, XM_005268372.1:c.64G>T, XM_011537554.3:c.64G>A, XM_011537554.3:c.64G>C, XM_011537554.3:c.64G>T, XM_011537554.2:c.64G>A, XM_011537554.2:c.64G>C, XM_011537554.2:c.64G>T, XM_011537554.1:c.64G>A, XM_011537554.1:c.64G>C, XM_011537554.1:c.64G>T, XM_011537553.3:c.127G>A, XM_011537553.3:c.127G>C, XM_011537553.3:c.127G>T, XM_011537553.2:c.127G>A, XM_011537553.2:c.127G>C, XM_011537553.2:c.127G>T, XM_011537553.1:c.127G>A, XM_011537553.1:c.127G>C, XM_011537553.1:c.127G>T, XM_011537555.3:c.127G>A, XM_011537555.3:c.127G>C, XM_011537555.3:c.127G>T, XM_011537555.2:c.127G>A, XM_011537555.2:c.127G>C, XM_011537555.2:c.127G>T, XM_011537555.1:c.127G>A, XM_011537555.1:c.127G>C, XM_011537555.1:c.127G>T, XM_011537557.2:c.127G>A, XM_011537557.2:c.127G>C, XM_011537557.2:c.127G>T, XM_011537557.1:c.127G>A, XM_011537557.1:c.127G>C, XM_011537557.1:c.127G>T, NP_573570.3:p.Asp43Asn, NP_573570.3:p.Asp43His, NP_573570.3:p.Asp43Tyr, NP_001166170.1:p.Asp18Asn, NP_001166170.1:p.Asp18His, NP_001166170.1:p.Asp18Tyr, NP_001166169.1:p.Asp43Asn, NP_001166169.1:p.Asp43His, NP_001166169.1:p.Asp43Tyr, XP_005268429.1:p.Asp22Asn, XP_005268429.1:p.Asp22His, XP_005268429.1:p.Asp22Tyr, XP_011535856.1:p.Asp22Asn, XP_011535856.1:p.Asp22His, XP_011535856.1:p.Asp22Tyr, XP_011535855.1:p.Asp43Asn, XP_011535855.1:p.Asp43His, XP_011535855.1:p.Asp43Tyr, XP_011535857.1:p.Asp43Asn, XP_011535857.1:p.Asp43His, XP_011535857.1:p.Asp43Tyr, XP_011535859.1:p.Asp43Asn, XP_011535859.1:p.Asp43His, XP_011535859.1:p.Asp43Tyr

Select item 147466694219.

rs1474666942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149845852 (GRCh38)
5:149225415 (GRCh37)
Canonical SPDI:: NC_000005.10:149845851:C:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149845852C>T, NC_000005.9:g.149225415C>T, NG_016747.1:g.120601C>T, NM_133263.4:c.2909C>T, NM_133263.3:c.2909C>T, NM_001172699.2:c.2717C>T, NM_001172699.1:c.2717C>T, NM_001172698.2:c.2792C>T, NM_001172698.1:c.2792C>T, XM_005268372.4:c.2846C>T, XM_005268372.3:c.2846C>T, XM_005268372.2:c.2846C>T, XM_005268372.1:c.2846C>T, XM_011537554.3:c.2846C>T, XM_011537554.2:c.2846C>T, XM_011537554.1:c.2846C>T, XM_011537553.3:c.2909C>T, XM_011537553.2:c.2909C>T, XM_011537553.1:c.2909C>T, XM_011537555.3:c.2792C>T, XM_011537555.2:c.2792C>T, XM_011537555.1:c.2792C>T, NP_573570.3:p.Pro970Leu, NP_001166170.1:p.Pro906Leu, NP_001166169.1:p.Pro931Leu, XP_005268429.1:p.Pro949Leu, XP_011535856.1:p.Pro949Leu, XP_011535855.1:p.Pro970Leu, XP_011535857.1:p.Pro931Leu

Select item 147153410820.

rs1471534108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149826824 (GRCh38)
5:149206387 (GRCh37)
Canonical SPDI:: NC_000005.10:149826823:C:T
Gene:: PPARGC1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.149826824C>T, NC_000005.9:g.149206387C>T, NG_016747.1:g.101573C>T, NM_133263.4:c.404C>T, NM_133263.3:c.404C>T, NM_001172699.2:c.329C>T, NM_001172699.1:c.329C>T, NM_001172698.2:c.404C>T, NM_001172698.1:c.404C>T, XM_005268372.4:c.341C>T, XM_005268372.3:c.341C>T, XM_005268372.2:c.341C>T, XM_005268372.1:c.341C>T, XM_011537554.3:c.341C>T, XM_011537554.2:c.341C>T, XM_011537554.1:c.341C>T, XM_011537553.3:c.404C>T, XM_011537553.2:c.404C>T, XM_011537553.1:c.404C>T, XM_011537555.3:c.404C>T, XM_011537555.2:c.404C>T, XM_011537555.1:c.404C>T, XM_011537557.2:c.404C>T, XM_011537557.1:c.404C>T, NP_573570.3:p.Pro135Leu, NP_001166170.1:p.Pro110Leu, NP_001166169.1:p.Pro135Leu, XP_005268429.1:p.Pro114Leu, XP_011535856.1:p.Pro114Leu, XP_011535855.1:p.Pro135Leu, XP_011535857.1:p.Pro135Leu, XP_011535859.1:p.Pro135Leu

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