SNP Links for Protein (Select 1135449779) - SNP

Links from Protein

Items: 1 to 20 of 1119

<< First< Prev

Page of 56

Next >Last >>

Select item 14895235431.

rs1489523543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8527469 (GRCh38)
19:8592353 (GRCh37)
Canonical SPDI:: NC_000019.10:8527468:G:A
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.8527469G>A, NC_000019.9:g.8592353G>A, NG_052844.1:g.54979C>T, NM_012335.4:c.2343C>T, NM_012335.3:c.2343C>T, NM_001348355.2:c.2331C>T, NM_001348355.1:c.2331C>T, XM_011528024.3:c.2406C>T, XM_011528024.2:c.2406C>T, XM_011528024.1:c.2406C>T, XM_011528027.3:c.2271C>T, XM_011528027.2:c.2271C>T, XM_011528027.1:c.2271C>T, XR_001753692.3:n.2525C>T, XR_001753692.2:n.2525C>T, XR_001753692.1:n.2530C>T

Select item 14883463252.

rs1488346325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8550168 (GRCh38)
19:8615052 (GRCh37)
Canonical SPDI:: NC_000019.10:8550167:G:A
Gene:: MYO1F (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8550168G>A, NC_000019.9:g.8615052G>A, NG_052844.1:g.32280C>T, NM_012335.4:c.1093C>T, NM_012335.3:c.1093C>T, NM_001348355.2:c.1081C>T, NM_001348355.1:c.1081C>T, XR_936182.4:n.1226C>T, XR_936182.3:n.1226C>T, XR_936182.2:n.1231C>T, XR_936182.1:n.1231C>T, XM_011528028.4:c.1093C>T, XM_011528028.3:c.1093C>T, XM_011528028.2:c.1093C>T, XM_011528028.1:c.1093C>T, XM_011528024.3:c.1093C>T, XM_011528024.2:c.1093C>T, XM_011528024.1:c.1093C>T, XM_011528027.3:c.1093C>T, XM_011528027.2:c.1093C>T, XM_011528027.1:c.1093C>T, XR_001753692.3:n.1226C>T, XR_001753692.2:n.1226C>T, XR_001753692.1:n.1231C>T, XR_936181.3:n.1226C>T, XR_936181.2:n.1226C>T, XR_936181.1:n.1231C>T, XM_047438852.1:c.1093C>T, NP_036467.2:p.Leu365Phe, NP_001335284.1:p.Leu361Phe, XP_011526330.1:p.Leu365Phe, XP_011526326.1:p.Leu365Phe, XP_011526329.1:p.Leu365Phe, XP_047294808.1:p.Leu365Phe

Select item 14879405863.

rs1487940586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8525512 (GRCh38)
19:8590396 (GRCh37)
Canonical SPDI:: NC_000019.10:8525511:C:T
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.8525512C>T, NC_000019.9:g.8590396C>T, NG_052844.1:g.56936G>A, NM_012335.4:c.2821G>A, NM_012335.3:c.2821G>A, NM_001348355.2:c.2809G>A, NM_001348355.1:c.2809G>A, XM_011528024.3:c.2884G>A, XM_011528024.2:c.2884G>A, XM_011528024.1:c.2884G>A, XM_011528027.3:c.2749G>A, XM_011528027.2:c.2749G>A, XM_011528027.1:c.2749G>A, NP_036467.2:p.Ala941Thr, NP_001335284.1:p.Ala937Thr, XP_011526326.1:p.Ala962Thr, XP_011526329.1:p.Ala917Thr

Select item 14874649694.

rs1487464969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8541987 (GRCh38)
19:8606871 (GRCh37)
Canonical SPDI:: NC_000019.10:8541986:G:A
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8541987G>A, NC_000019.9:g.8606871G>A, NG_052844.1:g.40461C>T, NM_012335.4:c.1529C>T, NM_012335.3:c.1529C>T, NM_001348355.2:c.1517C>T, NM_001348355.1:c.1517C>T, XR_936182.4:n.1662C>T, XR_936182.3:n.1662C>T, XR_936182.2:n.1667C>T, XR_936182.1:n.1667C>T, XM_011528024.3:c.1529C>T, XM_011528024.2:c.1529C>T, XM_011528024.1:c.1529C>T, XR_001753692.3:n.1662C>T, XR_001753692.2:n.1662C>T, XR_001753692.1:n.1667C>T, XR_936181.3:n.1662C>T, XR_936181.2:n.1662C>T, XR_936181.1:n.1667C>T, XM_047438852.1:c.1529C>T, NP_036467.2:p.Ser510Phe, NP_001335284.1:p.Ser506Phe, XP_011526326.1:p.Ser510Phe, XP_047294808.1:p.Ser510Phe

Select item 14870914965.

rs1487091496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:8554547 (GRCh38)
19:8619431 (GRCh37)
Canonical SPDI:: NC_000019.10:8554546:T:C
Gene:: MYO1F (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.8554547T>C, NC_000019.9:g.8619431T>C, NG_052844.1:g.27901A>G, NM_012335.4:c.256A>G, NM_012335.3:c.256A>G, NM_001348355.2:c.256A>G, NM_001348355.1:c.256A>G, XR_936182.4:n.389A>G, XR_936182.3:n.389A>G, XR_936182.2:n.394A>G, XR_936182.1:n.394A>G, XM_011528028.4:c.256A>G, XM_011528028.3:c.256A>G, XM_011528028.2:c.256A>G, XM_011528028.1:c.256A>G, XM_011528024.3:c.256A>G, XM_011528024.2:c.256A>G, XM_011528024.1:c.256A>G, XM_011528027.3:c.256A>G, XM_011528027.2:c.256A>G, XM_011528027.1:c.256A>G, XR_001753692.3:n.389A>G, XR_001753692.2:n.389A>G, XR_001753692.1:n.394A>G, XR_936181.3:n.389A>G, XR_936181.2:n.389A>G, XR_936181.1:n.394A>G, XM_047438852.1:c.256A>G, NP_036467.2:p.Ile86Val, NP_001335284.1:p.Ile86Val, XP_011526330.1:p.Ile86Val, XP_011526326.1:p.Ile86Val, XP_011526329.1:p.Ile86Val, XP_047294808.1:p.Ile86Val

Select item 14856323146.

rs1485632314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8526515 (GRCh38)
19:8591399 (GRCh37)
Canonical SPDI:: NC_000019.10:8526514:A:G
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8526515A>G, NC_000019.9:g.8591399A>G, NG_052844.1:g.55933T>C, NM_012335.4:c.2708T>C, NM_012335.3:c.2708T>C, NM_001348355.2:c.2696T>C, NM_001348355.1:c.2696T>C, XM_011528024.3:c.2771T>C, XM_011528024.2:c.2771T>C, XM_011528024.1:c.2771T>C, XM_011528027.3:c.2636T>C, XM_011528027.2:c.2636T>C, XM_011528027.1:c.2636T>C, XR_007067131.1:n.71A>G, XR_007067130.1:n.71A>G, NP_036467.2:p.Val903Ala, NP_001335284.1:p.Val899Ala, XP_011526326.1:p.Val924Ala, XP_011526329.1:p.Val879Ala

Select item 14835396047.

rs1483539604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8554503 (GRCh38)
19:8619387 (GRCh37)
Canonical SPDI:: NC_000019.10:8554502:G:A
Gene:: MYO1F (Varview)
Functional Consequence:: non_coding_transcript_variant,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.8554503G>A, NC_000019.9:g.8619387G>A, NG_052844.1:g.27945C>T, NM_012335.4:c.300C>T, NM_012335.3:c.300C>T, NM_001348355.2:c.300C>T, NM_001348355.1:c.300C>T, XR_936182.4:n.433C>T, XR_936182.3:n.433C>T, XR_936182.2:n.438C>T, XR_936182.1:n.438C>T, XM_011528028.4:c.300C>T, XM_011528028.3:c.300C>T, XM_011528028.2:c.300C>T, XM_011528028.1:c.300C>T, XM_011528024.3:c.300C>T, XM_011528024.2:c.300C>T, XM_011528024.1:c.300C>T, XM_011528027.3:c.300C>T, XM_011528027.2:c.300C>T, XM_011528027.1:c.300C>T, XR_001753692.3:n.433C>T, XR_001753692.2:n.433C>T, XR_001753692.1:n.438C>T, XR_936181.3:n.433C>T, XR_936181.2:n.433C>T, XR_936181.1:n.438C>T, XM_047438852.1:c.300C>T

Select item 14835327228.

rs1483532722 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:8530523 (GRCh38)
19:8595407 (GRCh37)
Canonical SPDI:: NC_000019.10:8530522:T:G
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.8530523T>G, NC_000019.9:g.8595407T>G, NG_052844.1:g.51925A>C, NM_012335.4:c.2094A>C, NM_012335.3:c.2094A>C, NM_001348355.2:c.2082A>C, NM_001348355.1:c.2082A>C, XM_011528024.3:c.2157A>C, XM_011528024.2:c.2157A>C, XM_011528024.1:c.2157A>C, XM_011528027.3:c.2022A>C, XM_011528027.2:c.2022A>C, XM_011528027.1:c.2022A>C, XR_001753692.3:n.2276A>C, XR_001753692.2:n.2276A>C, XR_001753692.1:n.2281A>C

Select item 14814352429.

rs1481435242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8530248 (GRCh38)
19:8595132 (GRCh37)
Canonical SPDI:: NC_000019.10:8530247:C:T
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8530248C>T, NC_000019.9:g.8595132C>T, NG_052844.1:g.52200G>A, NM_012335.4:c.2276G>A, NM_012335.3:c.2276G>A, NM_001348355.2:c.2264G>A, NM_001348355.1:c.2264G>A, XM_011528024.3:c.2339G>A, XM_011528024.2:c.2339G>A, XM_011528024.1:c.2339G>A, XM_011528027.3:c.2204G>A, XM_011528027.2:c.2204G>A, XM_011528027.1:c.2204G>A, XR_001753692.3:n.2458G>A, XR_001753692.2:n.2458G>A, XR_001753692.1:n.2463G>A, NP_036467.2:p.Arg759Lys, NP_001335284.1:p.Arg755Lys, XP_011526326.1:p.Arg780Lys, XP_011526329.1:p.Arg735Lys

Select item 147873789110.

rs1478737891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:8548282 (GRCh38)
19:8613166 (GRCh37)
Canonical SPDI:: NC_000019.10:8548281:C:A,NC_000019.10:8548281:C:G,NC_000019.10:8548281:C:T
Gene:: MYO1F (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8548282C>A, NC_000019.10:g.8548282C>G, NC_000019.10:g.8548282C>T, NC_000019.9:g.8613166C>A, NC_000019.9:g.8613166C>G, NC_000019.9:g.8613166C>T, NG_052844.1:g.34166G>T, NG_052844.1:g.34166G>C, NG_052844.1:g.34166G>A, NM_012335.4:c.1137G>T, NM_012335.4:c.1137G>C, NM_012335.4:c.1137G>A, NM_012335.3:c.1137G>T, NM_012335.3:c.1137G>C, NM_012335.3:c.1137G>A, NM_001348355.2:c.1125G>T, NM_001348355.2:c.1125G>C, NM_001348355.2:c.1125G>A, NM_001348355.1:c.1125G>T, NM_001348355.1:c.1125G>C, NM_001348355.1:c.1125G>A, XR_936182.4:n.1270G>T, XR_936182.4:n.1270G>C, XR_936182.4:n.1270G>A, XR_936182.3:n.1270G>T, XR_936182.3:n.1270G>C, XR_936182.3:n.1270G>A, XR_936182.2:n.1275G>T, XR_936182.2:n.1275G>C, XR_936182.2:n.1275G>A, XR_936182.1:n.1275G>T, XR_936182.1:n.1275G>C, XR_936182.1:n.1275G>A, XM_011528028.4:c.1137G>T, XM_011528028.4:c.1137G>C, XM_011528028.4:c.1137G>A, XM_011528028.3:c.1137G>T, XM_011528028.3:c.1137G>C, XM_011528028.3:c.1137G>A, XM_011528028.2:c.1137G>T, XM_011528028.2:c.1137G>C, XM_011528028.2:c.1137G>A, XM_011528028.1:c.1137G>T, XM_011528028.1:c.1137G>C, XM_011528028.1:c.1137G>A, XM_011528024.3:c.1137G>T, XM_011528024.3:c.1137G>C, XM_011528024.3:c.1137G>A, XM_011528024.2:c.1137G>T, XM_011528024.2:c.1137G>C, XM_011528024.2:c.1137G>A, XM_011528024.1:c.1137G>T, XM_011528024.1:c.1137G>C, XM_011528024.1:c.1137G>A, XM_011528027.3:c.1137G>T, XM_011528027.3:c.1137G>C, XM_011528027.3:c.1137G>A, XM_011528027.2:c.1137G>T, XM_011528027.2:c.1137G>C, XM_011528027.2:c.1137G>A, XM_011528027.1:c.1137G>T, XM_011528027.1:c.1137G>C, XM_011528027.1:c.1137G>A, XR_001753692.3:n.1270G>T, XR_001753692.3:n.1270G>C, XR_001753692.3:n.1270G>A, XR_001753692.2:n.1270G>T, XR_001753692.2:n.1270G>C, XR_001753692.2:n.1270G>A, XR_001753692.1:n.1275G>T, XR_001753692.1:n.1275G>C, XR_001753692.1:n.1275G>A, XR_936181.3:n.1270G>T, XR_936181.3:n.1270G>C, XR_936181.3:n.1270G>A, XR_936181.2:n.1270G>T, XR_936181.2:n.1270G>C, XR_936181.2:n.1270G>A, XR_936181.1:n.1275G>T, XR_936181.1:n.1275G>C, XR_936181.1:n.1275G>A, XM_047438852.1:c.1137G>T, XM_047438852.1:c.1137G>C, XM_047438852.1:c.1137G>A, NP_036467.2:p.Glu379Asp, NP_036467.2:p.Glu379Asp, NP_001335284.1:p.Glu375Asp, NP_001335284.1:p.Glu375Asp, XP_011526330.1:p.Glu379Asp, XP_011526330.1:p.Glu379Asp, XP_011526326.1:p.Glu379Asp, XP_011526326.1:p.Glu379Asp, XP_011526329.1:p.Glu379Asp, XP_011526329.1:p.Glu379Asp, XP_047294808.1:p.Glu379Asp, XP_047294808.1:p.Glu379Asp

Select item 147380856611.

rs1473808566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:8530544 (GRCh38)
19:8595428 (GRCh37)
Canonical SPDI:: NC_000019.10:8530543:T:C
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.8530544T>C, NC_000019.9:g.8595428T>C, NG_052844.1:g.51904A>G, NM_012335.4:c.2073A>G, NM_012335.3:c.2073A>G, NM_001348355.2:c.2061A>G, NM_001348355.1:c.2061A>G, XM_011528024.3:c.2136A>G, XM_011528024.2:c.2136A>G, XM_011528024.1:c.2136A>G, XM_011528027.3:c.2001A>G, XM_011528027.2:c.2001A>G, XM_011528027.1:c.2001A>G, XR_001753692.3:n.2255A>G, XR_001753692.2:n.2255A>G, XR_001753692.1:n.2260A>G

Select item 147364297212.

rs1473642972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:8530262 (GRCh38)
19:8595146 (GRCh37)
Canonical SPDI:: NC_000019.10:8530261:C:A
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.8530262C>A, NC_000019.9:g.8595146C>A, NG_052844.1:g.52186G>T, NM_012335.4:c.2262G>T, NM_012335.3:c.2262G>T, NM_001348355.2:c.2250G>T, NM_001348355.1:c.2250G>T, XM_011528024.3:c.2325G>T, XM_011528024.2:c.2325G>T, XM_011528024.1:c.2325G>T, XM_011528027.3:c.2190G>T, XM_011528027.2:c.2190G>T, XM_011528027.1:c.2190G>T, XR_001753692.3:n.2444G>T, XR_001753692.2:n.2444G>T, XR_001753692.1:n.2449G>T, NP_036467.2:p.Gln754His, NP_001335284.1:p.Gln750His, XP_011526326.1:p.Gln775His, XP_011526329.1:p.Gln730His

Select item 147334104513.

rs1473341045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8530206 (GRCh38)
19:8595090 (GRCh37)
Canonical SPDI:: NC_000019.10:8530205:C:T
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.8530206C>T, NC_000019.9:g.8595090C>T, NG_052844.1:g.52242G>A, NM_012335.4:c.2318G>A, NM_012335.3:c.2318G>A, NM_001348355.2:c.2306G>A, NM_001348355.1:c.2306G>A, XM_011528024.3:c.2381G>A, XM_011528024.2:c.2381G>A, XM_011528024.1:c.2381G>A, XM_011528027.3:c.2246G>A, XM_011528027.2:c.2246G>A, XM_011528027.1:c.2246G>A, XR_001753692.3:n.2500G>A, XR_001753692.2:n.2500G>A, XR_001753692.1:n.2505G>A, NP_036467.2:p.Arg773His, NP_001335284.1:p.Arg769His, XP_011526326.1:p.Arg794His, XP_011526329.1:p.Arg749His

Select item 147283011114.

rs1472830111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:8530198 (GRCh38)
19:8595082 (GRCh37)
Canonical SPDI:: NC_000019.10:8530197:T:C
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8530198T>C, NC_000019.9:g.8595082T>C, NG_052844.1:g.52250A>G, NM_012335.4:c.2326A>G, NM_012335.3:c.2326A>G, NM_001348355.2:c.2314A>G, NM_001348355.1:c.2314A>G, XM_011528024.3:c.2389A>G, XM_011528024.2:c.2389A>G, XM_011528024.1:c.2389A>G, XM_011528027.3:c.2254A>G, XM_011528027.2:c.2254A>G, XM_011528027.1:c.2254A>G, XR_001753692.3:n.2508A>G, XR_001753692.2:n.2508A>G, XR_001753692.1:n.2513A>G, NP_036467.2:p.Lys776Glu, NP_001335284.1:p.Lys772Glu, XP_011526326.1:p.Lys797Glu, XP_011526329.1:p.Lys752Glu

Select item 147065157915.

rs1470651579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:8522708 (GRCh38)
19:8587592 (GRCh37)
Canonical SPDI:: NC_000019.10:8522707:G:A,NC_000019.10:8522707:G:C
Gene:: MYO1F (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.8522708G>A, NC_000019.10:g.8522708G>C, NC_000019.9:g.8587592G>A, NC_000019.9:g.8587592G>C, NG_052844.1:g.59740C>T, NG_052844.1:g.59740C>G, NM_012335.4:c.2976C>T, NM_012335.4:c.2976C>G, NM_012335.3:c.2976C>T, NM_012335.3:c.2976C>G, NM_001348355.2:c.2964C>T, NM_001348355.2:c.2964C>G, NM_001348355.1:c.2964C>T, NM_001348355.1:c.2964C>G, XM_011528024.3:c.3039C>T, XM_011528024.3:c.3039C>G, XM_011528024.2:c.3039C>T, XM_011528024.2:c.3039C>G, XM_011528024.1:c.3039C>T, XM_011528024.1:c.3039C>G, XM_011528027.3:c.2904C>T, XM_011528027.3:c.2904C>G, XM_011528027.2:c.2904C>T, XM_011528027.2:c.2904C>G, XM_011528027.1:c.2904C>T, XM_011528027.1:c.2904C>G, NP_036467.2:p.Ser992Arg, NP_001335284.1:p.Ser988Arg, XP_011526326.1:p.Ser1013Arg, XP_011526329.1:p.Ser968Arg

Select item 146994988316.

rs1469949883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8530526 (GRCh38)
19:8595410 (GRCh37)
Canonical SPDI:: NC_000019.10:8530525:G:A
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8530526G>A, NC_000019.9:g.8595410G>A, NG_052844.1:g.51922C>T, NM_012335.4:c.2091C>T, NM_012335.3:c.2091C>T, NM_001348355.2:c.2079C>T, NM_001348355.1:c.2079C>T, XM_011528024.3:c.2154C>T, XM_011528024.2:c.2154C>T, XM_011528024.1:c.2154C>T, XM_011528027.3:c.2019C>T, XM_011528027.2:c.2019C>T, XM_011528027.1:c.2019C>T, XR_001753692.3:n.2273C>T, XR_001753692.2:n.2273C>T, XR_001753692.1:n.2278C>T

Select item 146652676717.

rs1466526767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:8527478 (GRCh38)
19:8592362 (GRCh37)
Canonical SPDI:: NC_000019.10:8527477:G:T
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8527478G>T, NC_000019.9:g.8592362G>T, NG_052844.1:g.54970C>A, NM_012335.4:c.2334C>A, NM_012335.3:c.2334C>A, NM_001348355.2:c.2322C>A, NM_001348355.1:c.2322C>A, XM_011528024.3:c.2397C>A, XM_011528024.2:c.2397C>A, XM_011528024.1:c.2397C>A, XM_011528027.3:c.2262C>A, XM_011528027.2:c.2262C>A, XM_011528027.1:c.2262C>A, XR_001753692.3:n.2516C>A, XR_001753692.2:n.2516C>A, XR_001753692.1:n.2521C>A

Select item 146552361918.

rs1465523619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8526555 (GRCh38)
19:8591439 (GRCh37)
Canonical SPDI:: NC_000019.10:8526554:G:A
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8526555G>A, NC_000019.9:g.8591439G>A, NG_052844.1:g.55893C>T, NM_012335.4:c.2668C>T, NM_012335.3:c.2668C>T, NM_001348355.2:c.2656C>T, NM_001348355.1:c.2656C>T, XM_011528024.3:c.2731C>T, XM_011528024.2:c.2731C>T, XM_011528024.1:c.2731C>T, XM_011528027.3:c.2596C>T, XM_011528027.2:c.2596C>T, XM_011528027.1:c.2596C>T, NP_036467.2:p.Arg890Cys, NP_001335284.1:p.Arg886Cys, XP_011526326.1:p.Arg911Cys, XP_011526329.1:p.Arg866Cys

Select item 146492627319.

rs1464926273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8537003 (GRCh38)
19:8601887 (GRCh37)
Canonical SPDI:: NC_000019.10:8537002:A:G
Gene:: MYO1F (Varview), LOC124904633 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8537003A>G, NC_000019.9:g.8601887A>G, NG_052844.1:g.45445T>C, NM_012335.4:c.1745T>C, NM_012335.3:c.1745T>C, NM_001348355.2:c.1733T>C, NM_001348355.1:c.1733T>C, XR_936182.4:n.1871T>C, XR_936182.3:n.1871T>C, XR_936182.2:n.1876T>C, XR_936182.1:n.1876T>C, XM_011528028.4:c.1659T>C, XM_011528028.3:c.1659T>C, XM_011528028.2:c.1659T>C, XM_011528028.1:c.1659T>C, XM_011528024.3:c.1745T>C, XM_011528024.2:c.1745T>C, XM_011528024.1:c.1745T>C, XM_011528027.3:c.1659T>C, XM_011528027.2:c.1659T>C, XM_011528027.1:c.1659T>C, XR_001753692.3:n.1878T>C, XR_001753692.2:n.1878T>C, XR_001753692.1:n.1883T>C, XR_936181.3:n.1871T>C, XR_936181.2:n.1871T>C, XR_936181.1:n.1876T>C, XM_047438852.1:c.1745T>C, NP_036467.2:p.Ile582Thr, NP_001335284.1:p.Ile578Thr, XP_011526326.1:p.Ile582Thr, XP_047294808.1:p.Ile582Thr

Select item 146321799220.

rs1463217992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8522806 (GRCh38)
19:8587690 (GRCh37)
Canonical SPDI:: NC_000019.10:8522805:G:A
Gene:: MYO1F (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.8522806G>A, NC_000019.9:g.8587690G>A, NG_052844.1:g.59642C>T, NM_012335.4:c.2878C>T, NM_012335.3:c.2878C>T, NM_001348355.2:c.2866C>T, NM_001348355.1:c.2866C>T, XM_011528024.3:c.2941C>T, XM_011528024.2:c.2941C>T, XM_011528024.1:c.2941C>T, XM_011528027.3:c.2806C>T, XM_011528027.2:c.2806C>T, XM_011528027.1:c.2806C>T, NP_036467.2:p.Pro960Ser, NP_001335284.1:p.Pro956Ser, XP_011526326.1:p.Pro981Ser, XP_011526329.1:p.Pro936Ser

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 1119

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity