SNP Links for Protein (Select 1114655551) - SNP

Links from Protein

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Select item 14900505081.

rs1490050508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49751862 (GRCh38)
10:50959908 (GRCh37)
Canonical SPDI:: NC_000010.11:49751861:C:T
Gene:: OGDHL (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.49751862C>T, NC_000010.10:g.50959908C>T, NG_052636.1:g.15518G>A, NM_018245.3:c.714G>A, NM_018245.2:c.714G>A, NM_001347821.2:c.87G>A, NM_001347821.1:c.87G>A, NM_001347825.2:c.87G>A, NM_001347825.1:c.87G>A, NR_144683.2:n.800G>A, NR_144683.1:n.856G>A, NR_144686.2:n.800G>A, NR_144686.1:n.856G>A, NM_001143996.2:c.543G>A, NM_001143996.1:c.543G>A, NM_001347824.2:c.714G>A, NM_001347824.1:c.714G>A, NR_144682.2:n.629G>A, NR_144682.1:n.685G>A, NR_144684.2:n.629G>A, NR_144684.1:n.685G>A, NM_001143997.2:c.87G>A, NM_001143997.1:c.87G>A, NR_144685.2:n.424G>A, NR_144685.1:n.480G>A, NM_001347819.1:c.714G>A, NM_001347820.1:c.543G>A, NM_001347823.1:c.714G>A, NM_001347826.1:c.-213G>A, NM_001347822.1:c.87G>A, XM_011539946.3:c.714G>A, XM_011539946.2:c.714G>A, XM_011539946.1:c.714G>A

Select item 14897927702.

rs1489792770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:49750966 (GRCh38)
10:50959012 (GRCh37)
Canonical SPDI:: NC_000010.11:49750965:G:A
Gene:: OGDHL (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000010.11:g.49750966G>A, NC_000010.10:g.50959012G>A, NG_052636.1:g.16414C>T, NM_018245.3:c.769C>T, NM_018245.2:c.769C>T, NM_001347821.2:c.142C>T, NM_001347821.1:c.142C>T, NM_001347825.2:c.142C>T, NM_001347825.1:c.142C>T, NR_144683.2:n.855C>T, NR_144683.1:n.911C>T, NR_144686.2:n.855C>T, NR_144686.1:n.911C>T, NM_001143996.2:c.598C>T, NM_001143996.1:c.598C>T, NM_001347824.2:c.769C>T, NM_001347824.1:c.769C>T, NR_144682.2:n.684C>T, NR_144682.1:n.740C>T, NR_144684.2:n.684C>T, NR_144684.1:n.740C>T, NM_001143997.2:c.142C>T, NM_001143997.1:c.142C>T, NR_144685.2:n.479C>T, NR_144685.1:n.535C>T, NM_001347819.1:c.769C>T, NM_001347820.1:c.598C>T, NM_001347823.1:c.769C>T, NM_001347826.1:c.-158C>T, NM_001347822.1:c.142C>T, XM_011539946.3:c.769C>T, XM_011539946.2:c.769C>T, XM_011539946.1:c.769C>T, NP_060715.2:p.Arg257Trp, NP_001334750.1:p.Arg48Trp, NP_001334754.1:p.Arg48Trp, NP_001137468.1:p.Arg200Trp, NP_001334753.1:p.Arg257Trp, NP_001137469.1:p.Arg48Trp, NP_001334748.1:p.Arg257Trp, NP_001334749.1:p.Arg200Trp, NP_001334752.1:p.Arg257Trp, NP_001334751.1:p.Arg48Trp, XP_011538248.1:p.Arg257Trp

Select item 14892169623.

rs1489216962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:49738006 (GRCh38)
10:50946052 (GRCh37)
Canonical SPDI:: NC_000010.11:49738005:T:G
Gene:: OGDHL (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49738006T>G, NC_000010.10:g.50946052T>G, NG_052636.1:g.29374A>C, NM_018245.3:c.2458A>C, NM_018245.2:c.2458A>C, NM_001347821.2:c.1831A>C, NM_001347821.1:c.1831A>C, NM_001347825.2:c.1651A>C, NM_001347825.1:c.1651A>C, NR_144683.2:n.2544A>C, NR_144683.1:n.2600A>C, NR_144686.2:n.2453A>C, NR_144686.1:n.2509A>C, NM_001143996.2:c.2287A>C, NM_001143996.1:c.2287A>C, NM_001347824.2:c.2278A>C, NM_001347824.1:c.2278A>C, NR_144682.2:n.2373A>C, NR_144682.1:n.2429A>C, NR_144684.2:n.2282A>C, NR_144684.1:n.2338A>C, NM_001143997.2:c.1831A>C, NM_001143997.1:c.1831A>C, NR_144685.2:n.2168A>C, NR_144685.1:n.2224A>C, NM_001347819.1:c.2458A>C, NM_001347820.1:c.2287A>C, NM_001347823.1:c.2278A>C, NM_001347826.1:c.1261A>C, NM_001347822.1:c.1831A>C, XM_011539946.3:c.2458A>C, XM_011539946.2:c.2458A>C, XM_011539946.1:c.2458A>C, XM_047425466.1:c.1441A>C, NP_060715.2:p.Thr820Pro, NP_001334750.1:p.Thr611Pro, NP_001334754.1:p.Thr551Pro, NP_001137468.1:p.Thr763Pro, NP_001334753.1:p.Thr760Pro, NP_001137469.1:p.Thr611Pro, NP_001334748.1:p.Thr820Pro, NP_001334749.1:p.Thr763Pro, NP_001334752.1:p.Thr760Pro, NP_001334755.1:p.Thr421Pro, NP_001334751.1:p.Thr611Pro, XP_011538248.1:p.Thr820Pro, XP_047281422.1:p.Thr481Pro

Select item 14891242014.

rs1489124201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49745936 (GRCh38)
10:50953982 (GRCh37)
Canonical SPDI:: NC_000010.11:49745935:T:C
Gene:: OGDHL (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49745936T>C, NC_000010.10:g.50953982T>C, NG_052636.1:g.21444A>G, NM_018245.3:c.1338A>G, NM_018245.2:c.1338A>G, NM_001347821.2:c.711A>G, NM_001347821.1:c.711A>G, NR_144683.2:n.1424A>G, NR_144683.1:n.1480A>G, NR_144686.2:n.1333A>G, NR_144686.1:n.1389A>G, NM_001143996.2:c.1167A>G, NM_001143996.1:c.1167A>G, NR_144682.2:n.1253A>G, NR_144682.1:n.1309A>G, NR_144684.2:n.1162A>G, NR_144684.1:n.1218A>G, NM_001143997.2:c.711A>G, NM_001143997.1:c.711A>G, NR_144685.2:n.1048A>G, NR_144685.1:n.1104A>G, NM_001347819.1:c.1338A>G, NM_001347820.1:c.1167A>G, NM_001347822.1:c.711A>G, XM_011539946.3:c.1338A>G, XM_011539946.2:c.1338A>G, XM_011539946.1:c.1338A>G, XM_047425466.1:c.321A>G

Select item 14886981835.

rs1488698183 [Homo sapiens]

Variant type:: DEL
Alleles:: CCGCT>- [Show Flanks]
Chromosome:: 10:49735329 (GRCh38)
10:50943375 (GRCh37)
Canonical SPDI:: NC_000010.11:49735328:CCGCT:
Gene:: OGDHL (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.49735329_49735333del, NC_000010.10:g.50943375_50943379del, NG_052636.1:g.32047_32051del, NM_018245.3:c.2928_2932del, NM_018245.2:c.2928_2932del, NM_001347821.2:c.2301_2305del, NM_001347821.1:c.2301_2305del, NM_001347825.2:c.2121_2125del, NM_001347825.1:c.2121_2125del, NR_144683.2:n.2941_2945del, NR_144683.1:n.2997_3001del, NR_144686.2:n.2850_2854del, NR_144686.1:n.2906_2910del, NM_001143996.2:c.2757_2761del, NM_001143996.1:c.2757_2761del, NM_001347824.2:c.2748_2752del, NM_001347824.1:c.2748_2752del, NR_144682.2:n.2770_2774del, NR_144682.1:n.2826_2830del, NR_144684.2:n.2679_2683del, NR_144684.1:n.2735_2739del, NM_001143997.2:c.2301_2305del, NM_001143997.1:c.2301_2305del, NR_144685.2:n.2565_2569del, NR_144685.1:n.2621_2625del, NM_001347819.1:c.2928_2932del, NM_001347820.1:c.2757_2761del, NM_001347823.1:c.2748_2752del, NM_001347826.1:c.1731_1735del, NM_001347822.1:c.2301_2305del, XM_011539946.3:c.2928_2932del, XM_011539946.2:c.2928_2932del, XM_011539946.1:c.2928_2932del, XM_047425466.1:c.1911_1915del, NP_060715.2:p.Ala977fs, NP_001334750.1:p.Ala768fs, NP_001334754.1:p.Ala708fs, NP_001137468.1:p.Ala920fs, NP_001334753.1:p.Ala917fs, NP_001137469.1:p.Ala768fs, NP_001334748.1:p.Ala977fs, NP_001334749.1:p.Ala920fs, NP_001334752.1:p.Ala917fs, NP_001334755.1:p.Ala578fs, NP_001334751.1:p.Ala768fs, XP_011538248.1:p.Ala977fs, XP_047281422.1:p.Ala638fs

Select item 14878058396.

rs1487805839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49736031 (GRCh38)
10:50944077 (GRCh37)
Canonical SPDI:: NC_000010.11:49736030:C:T
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.49736031C>T, NC_000010.10:g.50944077C>T, NG_052636.1:g.31349G>A, NM_018245.3:c.2901G>A, NM_018245.2:c.2901G>A, NM_001347821.2:c.2274G>A, NM_001347821.1:c.2274G>A, NM_001347825.2:c.2094G>A, NM_001347825.1:c.2094G>A, NR_144683.2:n.2914G>A, NR_144683.1:n.2970G>A, NR_144686.2:n.2823G>A, NR_144686.1:n.2879G>A, NM_001143996.2:c.2730G>A, NM_001143996.1:c.2730G>A, NM_001347824.2:c.2721G>A, NM_001347824.1:c.2721G>A, NR_144682.2:n.2743G>A, NR_144682.1:n.2799G>A, NR_144684.2:n.2652G>A, NR_144684.1:n.2708G>A, NM_001143997.2:c.2274G>A, NM_001143997.1:c.2274G>A, NR_144685.2:n.2538G>A, NR_144685.1:n.2594G>A, NM_001347819.1:c.2901G>A, NM_001347820.1:c.2730G>A, NM_001347823.1:c.2721G>A, NM_001347826.1:c.1704G>A, NM_001347822.1:c.2274G>A, XM_011539946.3:c.2901G>A, XM_011539946.2:c.2901G>A, XM_011539946.1:c.2901G>A, XM_047425466.1:c.1884G>A

Select item 14874704727.

rs1487470472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49752195 (GRCh38)
10:50960241 (GRCh37)
Canonical SPDI:: NC_000010.11:49752194:T:C
Gene:: OGDHL (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49752195T>C, NC_000010.10:g.50960241T>C, NG_052636.1:g.15185A>G, NM_018245.3:c.532A>G, NM_018245.2:c.532A>G, NM_001347821.2:c.-96A>G, NM_001347821.1:c.-96A>G, NM_001347825.2:c.-96A>G, NM_001347825.1:c.-96A>G, NR_144683.2:n.618A>G, NR_144683.1:n.674A>G, NR_144686.2:n.618A>G, NR_144686.1:n.674A>G, NM_001143996.2:c.361A>G, NM_001143996.1:c.361A>G, NM_001347824.2:c.532A>G, NM_001347824.1:c.532A>G, NR_144682.2:n.447A>G, NR_144682.1:n.503A>G, NR_144684.2:n.447A>G, NR_144684.1:n.503A>G, NM_001143997.2:c.-96A>G, NM_001143997.1:c.-96A>G, NR_144685.2:n.242A>G, NR_144685.1:n.298A>G, NM_001347819.1:c.532A>G, NM_001347820.1:c.361A>G, NM_001347823.1:c.532A>G, NM_001347826.1:c.-395A>G, NM_001347822.1:c.-96A>G, XM_011539946.3:c.532A>G, XM_011539946.2:c.532A>G, XM_011539946.1:c.532A>G, NP_060715.2:p.Thr178Ala, NP_001137468.1:p.Thr121Ala, NP_001334753.1:p.Thr178Ala, NP_001334748.1:p.Thr178Ala, NP_001334749.1:p.Thr121Ala, NP_001334752.1:p.Thr178Ala, XP_011538248.1:p.Thr178Ala

Select item 14873592198.

rs1487359219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:49758484 (GRCh38)
10:50966530 (GRCh37)
Canonical SPDI:: NC_000010.11:49758483:G:C
Gene:: OGDHL (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49758484G>C, NC_000010.10:g.50966530G>C, NG_052636.1:g.8896C>G, NM_018245.3:c.109C>G, NM_018245.2:c.109C>G, NM_001347821.2:c.-830C>G, NM_001347821.1:c.-830C>G, NM_001347825.2:c.-830C>G, NM_001347825.1:c.-830C>G, NR_144683.2:n.195C>G, NR_144683.1:n.251C>G, NR_144686.2:n.195C>G, NR_144686.1:n.251C>G, NM_001143996.2:c.109C>G, NM_001143996.1:c.109C>G, NM_001347824.2:c.109C>G, NM_001347824.1:c.109C>G, NR_144682.2:n.195C>G, NR_144682.1:n.251C>G, NR_144684.2:n.195C>G, NR_144684.1:n.251C>G, NM_001347819.1:c.109C>G, NM_001347820.1:c.109C>G, NM_001347823.1:c.109C>G, NM_001347826.1:c.-818C>G, XM_011539946.3:c.109C>G, XM_011539946.2:c.109C>G, XM_011539946.1:c.109C>G, NP_060715.2:p.Pro37Ala, NP_001137468.1:p.Pro37Ala, NP_001334753.1:p.Pro37Ala, NP_001334748.1:p.Pro37Ala, NP_001334749.1:p.Pro37Ala, NP_001334752.1:p.Pro37Ala, XP_011538248.1:p.Pro37Ala

Select item 14833848319.

rs1483384831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:49736089 (GRCh38)
10:50944135 (GRCh37)
Canonical SPDI:: NC_000010.11:49736088:T:G
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49736089T>G, NC_000010.10:g.50944135T>G, NG_052636.1:g.31291A>C, NM_018245.3:c.2843A>C, NM_018245.2:c.2843A>C, NM_001347821.2:c.2216A>C, NM_001347821.1:c.2216A>C, NM_001347825.2:c.2036A>C, NM_001347825.1:c.2036A>C, NR_144683.2:n.2856A>C, NR_144683.1:n.2912A>C, NR_144686.2:n.2765A>C, NR_144686.1:n.2821A>C, NM_001143996.2:c.2672A>C, NM_001143996.1:c.2672A>C, NM_001347824.2:c.2663A>C, NM_001347824.1:c.2663A>C, NR_144682.2:n.2685A>C, NR_144682.1:n.2741A>C, NR_144684.2:n.2594A>C, NR_144684.1:n.2650A>C, NM_001143997.2:c.2216A>C, NM_001143997.1:c.2216A>C, NR_144685.2:n.2480A>C, NR_144685.1:n.2536A>C, NM_001347819.1:c.2843A>C, NM_001347820.1:c.2672A>C, NM_001347823.1:c.2663A>C, NM_001347826.1:c.1646A>C, NM_001347822.1:c.2216A>C, XM_011539946.3:c.2843A>C, XM_011539946.2:c.2843A>C, XM_011539946.1:c.2843A>C, XM_047425466.1:c.1826A>C, NP_060715.2:p.Asn948Thr, NP_001334750.1:p.Asn739Thr, NP_001334754.1:p.Asn679Thr, NP_001137468.1:p.Asn891Thr, NP_001334753.1:p.Asn888Thr, NP_001137469.1:p.Asn739Thr, NP_001334748.1:p.Asn948Thr, NP_001334749.1:p.Asn891Thr, NP_001334752.1:p.Asn888Thr, NP_001334755.1:p.Asn549Thr, NP_001334751.1:p.Asn739Thr, XP_011538248.1:p.Asn948Thr, XP_047281422.1:p.Asn609Thr

Select item 148261123910.

rs1482611239 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 10:49747054 (GRCh38)
10:50955101 (GRCh37)
Canonical SPDI:: NC_000010.11:49747054::CC
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
HGVS:: NC_000010.11:g.49747054_49747055insCC, NC_000010.10:g.50955100_50955101insCC, NG_052636.1:g.20325_20326insGG, NM_018245.3:c.1141_1142insGG, NM_018245.2:c.1141_1142insGG, NM_001347821.2:c.514_515insGG, NM_001347821.1:c.514_515insGG, NM_001347825.2:c.514_515insGG, NM_001347825.1:c.514_515insGG, NR_144683.2:n.1227_1228insGG, NR_144683.1:n.1283_1284insGG, NR_144686.2:n.1136_1137insGG, NR_144686.1:n.1192_1193insGG, NM_001143996.2:c.970_971insGG, NM_001143996.1:c.970_971insGG, NM_001347824.2:c.1141_1142insGG, NM_001347824.1:c.1141_1142insGG, NR_144682.2:n.1056_1057insGG, NR_144682.1:n.1112_1113insGG, NR_144684.2:n.965_966insGG, NR_144684.1:n.1021_1022insGG, NM_001143997.2:c.514_515insGG, NM_001143997.1:c.514_515insGG, NR_144685.2:n.851_852insGG, NR_144685.1:n.907_908insGG, NM_001347819.1:c.1141_1142insGG, NM_001347820.1:c.970_971insGG, NM_001347823.1:c.1141_1142insGG, NM_001347826.1:c.124_125insGG, NM_001347822.1:c.514_515insGG, XM_011539946.3:c.1141_1142insGG, XM_011539946.2:c.1141_1142insGG, XM_011539946.1:c.1141_1142insGG, XM_047425466.1:c.124_125insGG, NP_060715.2:p.Tyr381fs, NP_001334750.1:p.Tyr172fs, NP_001334754.1:p.Tyr172fs, NP_001137468.1:p.Tyr324fs, NP_001334753.1:p.Tyr381fs, NP_001137469.1:p.Tyr172fs, NP_001334748.1:p.Tyr381fs, NP_001334749.1:p.Tyr324fs, NP_001334752.1:p.Tyr381fs, NP_001334755.1:p.Tyr42fs, NP_001334751.1:p.Tyr172fs, XP_011538248.1:p.Tyr381fs, XP_047281422.1:p.Tyr42fs

Select item 148248969911.

rs1482489699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:49746753 (GRCh38)
10:50954799 (GRCh37)
Canonical SPDI:: NC_000010.11:49746752:G:A
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.49746753G>A, NC_000010.10:g.50954799G>A, NG_052636.1:g.20627C>T, NM_018245.3:c.1293C>T, NM_018245.2:c.1293C>T, NM_001347821.2:c.666C>T, NM_001347821.1:c.666C>T, NM_001347825.2:c.666C>T, NM_001347825.1:c.666C>T, NR_144683.2:n.1379C>T, NR_144683.1:n.1435C>T, NR_144686.2:n.1288C>T, NR_144686.1:n.1344C>T, NM_001143996.2:c.1122C>T, NM_001143996.1:c.1122C>T, NM_001347824.2:c.1293C>T, NM_001347824.1:c.1293C>T, NR_144682.2:n.1208C>T, NR_144682.1:n.1264C>T, NR_144684.2:n.1117C>T, NR_144684.1:n.1173C>T, NM_001143997.2:c.666C>T, NM_001143997.1:c.666C>T, NR_144685.2:n.1003C>T, NR_144685.1:n.1059C>T, NM_001347819.1:c.1293C>T, NM_001347820.1:c.1122C>T, NM_001347823.1:c.1293C>T, NM_001347826.1:c.276C>T, NM_001347822.1:c.666C>T, XM_011539946.3:c.1293C>T, XM_011539946.2:c.1293C>T, XM_011539946.1:c.1293C>T, XM_047425466.1:c.276C>T

Select item 148239931612.

rs1482399316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:49744076 (GRCh38)
10:50952122 (GRCh37)
Canonical SPDI:: NC_000010.11:49744075:G:A
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49744076G>A, NC_000010.10:g.50952122G>A, NG_052636.1:g.23304C>T, NM_018245.3:c.1779C>T, NM_018245.2:c.1779C>T, NM_001347821.2:c.1152C>T, NM_001347821.1:c.1152C>T, NM_001347825.2:c.972C>T, NM_001347825.1:c.972C>T, NR_144683.2:n.1865C>T, NR_144683.1:n.1921C>T, NR_144686.2:n.1774C>T, NR_144686.1:n.1830C>T, NM_001143996.2:c.1608C>T, NM_001143996.1:c.1608C>T, NM_001347824.2:c.1599C>T, NM_001347824.1:c.1599C>T, NR_144682.2:n.1694C>T, NR_144682.1:n.1750C>T, NR_144684.2:n.1603C>T, NR_144684.1:n.1659C>T, NM_001143997.2:c.1152C>T, NM_001143997.1:c.1152C>T, NR_144685.2:n.1489C>T, NR_144685.1:n.1545C>T, NM_001347819.1:c.1779C>T, NM_001347820.1:c.1608C>T, NM_001347823.1:c.1599C>T, NM_001347826.1:c.582C>T, NM_001347822.1:c.1152C>T, XM_011539946.3:c.1779C>T, XM_011539946.2:c.1779C>T, XM_011539946.1:c.1779C>T, XM_047425466.1:c.762C>T

Select item 148239589813.

rs1482395898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49736480 (GRCh38)
10:50944526 (GRCh37)
Canonical SPDI:: NC_000010.11:49736479:T:C
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.49736480T>C, NC_000010.10:g.50944526T>C, NG_052636.1:g.30900A>G, NM_018245.3:c.2631A>G, NM_018245.2:c.2631A>G, NM_001347821.2:c.2004A>G, NM_001347821.1:c.2004A>G, NM_001347825.2:c.1824A>G, NM_001347825.1:c.1824A>G, NR_144683.2:n.2644A>G, NR_144683.1:n.2700A>G, NR_144686.2:n.2553A>G, NR_144686.1:n.2609A>G, NM_001143996.2:c.2460A>G, NM_001143996.1:c.2460A>G, NM_001347824.2:c.2451A>G, NM_001347824.1:c.2451A>G, NR_144682.2:n.2473A>G, NR_144682.1:n.2529A>G, NR_144684.2:n.2382A>G, NR_144684.1:n.2438A>G, NM_001143997.2:c.2004A>G, NM_001143997.1:c.2004A>G, NR_144685.2:n.2268A>G, NR_144685.1:n.2324A>G, NM_001347819.1:c.2631A>G, NM_001347820.1:c.2460A>G, NM_001347823.1:c.2451A>G, NM_001347826.1:c.1434A>G, NM_001347822.1:c.2004A>G, XM_011539946.3:c.2631A>G, XM_011539946.2:c.2631A>G, XM_011539946.1:c.2631A>G, XM_047425466.1:c.1614A>G

Select item 148111676414.

rs1481116764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:49747200 (GRCh38)
10:50955246 (GRCh37)
Canonical SPDI:: NC_000010.11:49747199:C:G
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00084/10 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.49747200C>G, NC_000010.10:g.50955246C>G, NG_052636.1:g.20180G>C, NM_018245.3:c.996G>C, NM_018245.2:c.996G>C, NM_001347821.2:c.369G>C, NM_001347821.1:c.369G>C, NM_001347825.2:c.369G>C, NM_001347825.1:c.369G>C, NR_144683.2:n.1082G>C, NR_144683.1:n.1138G>C, NR_144686.2:n.991G>C, NR_144686.1:n.1047G>C, NM_001143996.2:c.825G>C, NM_001143996.1:c.825G>C, NM_001347824.2:c.996G>C, NM_001347824.1:c.996G>C, NR_144682.2:n.911G>C, NR_144682.1:n.967G>C, NR_144684.2:n.820G>C, NR_144684.1:n.876G>C, NM_001143997.2:c.369G>C, NM_001143997.1:c.369G>C, NR_144685.2:n.706G>C, NR_144685.1:n.762G>C, NM_001347819.1:c.996G>C, NM_001347820.1:c.825G>C, NM_001347823.1:c.996G>C, NM_001347826.1:c.-22G>C, NM_001347822.1:c.369G>C, XM_011539946.3:c.996G>C, XM_011539946.2:c.996G>C, XM_011539946.1:c.996G>C, XM_047425466.1:c.-22G>C

Select item 148064734115.

rs1480647341 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:49752140 (GRCh38)
10:50960187 (GRCh37)
Canonical SPDI:: NC_000010.11:49752140::T
Gene:: OGDHL (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.49752140_49752141insT, NC_000010.10:g.50960186_50960187insT, NG_052636.1:g.15239_15240insA, NM_018245.3:c.586_587insA, NM_018245.2:c.586_587insA, NM_001347821.2:c.-42_-41insA, NM_001347821.1:c.-42_-41insA, NM_001347825.2:c.-42_-41insA, NM_001347825.1:c.-42_-41insA, NR_144683.2:n.672_673insA, NR_144683.1:n.728_729insA, NR_144686.2:n.672_673insA, NR_144686.1:n.728_729insA, NM_001143996.2:c.415_416insA, NM_001143996.1:c.415_416insA, NM_001347824.2:c.586_587insA, NM_001347824.1:c.586_587insA, NR_144682.2:n.501_502insA, NR_144682.1:n.557_558insA, NR_144684.2:n.501_502insA, NR_144684.1:n.557_558insA, NM_001143997.2:c.-42_-41insA, NM_001143997.1:c.-42_-41insA, NR_144685.2:n.296_297insA, NR_144685.1:n.352_353insA, NM_001347819.1:c.586_587insA, NM_001347820.1:c.415_416insA, NM_001347823.1:c.586_587insA, NM_001347826.1:c.-341_-340insA, NM_001347822.1:c.-42_-41insA, XM_011539946.3:c.586_587insA, XM_011539946.2:c.586_587insA, XM_011539946.1:c.586_587insA, NP_060715.2:p.Arg196fs, NP_001137468.1:p.Arg139fs, NP_001334753.1:p.Arg196fs, NP_001334748.1:p.Arg196fs, NP_001334749.1:p.Arg139fs, NP_001334752.1:p.Arg196fs, XP_011538248.1:p.Arg196fs

Select item 147999189616.

rs1479991896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:49739803 (GRCh38)
10:50947849 (GRCh37)
Canonical SPDI:: NC_000010.11:49739802:G:A
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49739803G>A, NC_000010.10:g.50947849G>A, NG_052636.1:g.27577C>T, NM_018245.3:c.2177C>T, NM_018245.2:c.2177C>T, NM_001347821.2:c.1550C>T, NM_001347821.1:c.1550C>T, NM_001347825.2:c.1370C>T, NM_001347825.1:c.1370C>T, NR_144683.2:n.2263C>T, NR_144683.1:n.2319C>T, NR_144686.2:n.2172C>T, NR_144686.1:n.2228C>T, NM_001143996.2:c.2006C>T, NM_001143996.1:c.2006C>T, NM_001347824.2:c.1997C>T, NM_001347824.1:c.1997C>T, NR_144682.2:n.2092C>T, NR_144682.1:n.2148C>T, NR_144684.2:n.2001C>T, NR_144684.1:n.2057C>T, NM_001143997.2:c.1550C>T, NM_001143997.1:c.1550C>T, NR_144685.2:n.1887C>T, NR_144685.1:n.1943C>T, NM_001347819.1:c.2177C>T, NM_001347820.1:c.2006C>T, NM_001347823.1:c.1997C>T, NM_001347826.1:c.980C>T, NM_001347822.1:c.1550C>T, XM_011539946.3:c.2177C>T, XM_011539946.2:c.2177C>T, XM_011539946.1:c.2177C>T, XM_047425466.1:c.1160C>T, NP_060715.2:p.Ala726Val, NP_001334750.1:p.Ala517Val, NP_001334754.1:p.Ala457Val, NP_001137468.1:p.Ala669Val, NP_001334753.1:p.Ala666Val, NP_001137469.1:p.Ala517Val, NP_001334748.1:p.Ala726Val, NP_001334749.1:p.Ala669Val, NP_001334752.1:p.Ala666Val, NP_001334755.1:p.Ala327Val, NP_001334751.1:p.Ala517Val, XP_011538248.1:p.Ala726Val, XP_047281422.1:p.Ala387Val

Select item 147935503017.

rs1479355030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49749784 (GRCh38)
10:50957830 (GRCh37)
Canonical SPDI:: NC_000010.11:49749783:C:T
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.49749784C>T, NC_000010.10:g.50957830C>T, NG_052636.1:g.17596G>A, NM_018245.3:c.929G>A, NM_018245.2:c.929G>A, NM_001347821.2:c.302G>A, NM_001347821.1:c.302G>A, NM_001347825.2:c.302G>A, NM_001347825.1:c.302G>A, NR_144683.2:n.1015G>A, NR_144683.1:n.1071G>A, NM_001143996.2:c.758G>A, NM_001143996.1:c.758G>A, NM_001347824.2:c.929G>A, NM_001347824.1:c.929G>A, NR_144682.2:n.844G>A, NR_144682.1:n.900G>A, NM_001143997.2:c.302G>A, NM_001143997.1:c.302G>A, NR_144685.2:n.639G>A, NR_144685.1:n.695G>A, NM_001347819.1:c.929G>A, NM_001347820.1:c.758G>A, NM_001347823.1:c.929G>A, NM_001347822.1:c.302G>A, XM_011539946.3:c.929G>A, XM_011539946.2:c.929G>A, XM_011539946.1:c.929G>A, NP_060715.2:p.Arg310His, NP_001334750.1:p.Arg101His, NP_001334754.1:p.Arg101His, NP_001137468.1:p.Arg253His, NP_001334753.1:p.Arg310His, NP_001137469.1:p.Arg101His, NP_001334748.1:p.Arg310His, NP_001334749.1:p.Arg253His, NP_001334752.1:p.Arg310His, NP_001334751.1:p.Arg101His, XP_011538248.1:p.Arg310His

Select item 147879666418.

rs1478796664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:49736504 (GRCh38)
10:50944550 (GRCh37)
Canonical SPDI:: NC_000010.11:49736503:C:A
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49736504C>A, NC_000010.10:g.50944550C>A, NG_052636.1:g.30876G>T, NM_018245.3:c.2607G>T, NM_018245.2:c.2607G>T, NM_001347821.2:c.1980G>T, NM_001347821.1:c.1980G>T, NM_001347825.2:c.1800G>T, NM_001347825.1:c.1800G>T, NR_144683.2:n.2620G>T, NR_144683.1:n.2676G>T, NR_144686.2:n.2529G>T, NR_144686.1:n.2585G>T, NM_001143996.2:c.2436G>T, NM_001143996.1:c.2436G>T, NM_001347824.2:c.2427G>T, NM_001347824.1:c.2427G>T, NR_144682.2:n.2449G>T, NR_144682.1:n.2505G>T, NR_144684.2:n.2358G>T, NR_144684.1:n.2414G>T, NM_001143997.2:c.1980G>T, NM_001143997.1:c.1980G>T, NR_144685.2:n.2244G>T, NR_144685.1:n.2300G>T, NM_001347819.1:c.2607G>T, NM_001347820.1:c.2436G>T, NM_001347823.1:c.2427G>T, NM_001347826.1:c.1410G>T, NM_001347822.1:c.1980G>T, XM_011539946.3:c.2607G>T, XM_011539946.2:c.2607G>T, XM_011539946.1:c.2607G>T, XM_047425466.1:c.1590G>T

Select item 147860857519.

rs1478608575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:49736141 (GRCh38)
10:50944187 (GRCh37)
Canonical SPDI:: NC_000010.11:49736140:C:A
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.49736141C>A, NC_000010.10:g.50944187C>A, NG_052636.1:g.31239G>T, NM_018245.3:c.2791G>T, NM_018245.2:c.2791G>T, NM_001347821.2:c.2164G>T, NM_001347821.1:c.2164G>T, NM_001347825.2:c.1984G>T, NM_001347825.1:c.1984G>T, NR_144683.2:n.2804G>T, NR_144683.1:n.2860G>T, NR_144686.2:n.2713G>T, NR_144686.1:n.2769G>T, NM_001143996.2:c.2620G>T, NM_001143996.1:c.2620G>T, NM_001347824.2:c.2611G>T, NM_001347824.1:c.2611G>T, NR_144682.2:n.2633G>T, NR_144682.1:n.2689G>T, NR_144684.2:n.2542G>T, NR_144684.1:n.2598G>T, NM_001143997.2:c.2164G>T, NM_001143997.1:c.2164G>T, NR_144685.2:n.2428G>T, NR_144685.1:n.2484G>T, NM_001347819.1:c.2791G>T, NM_001347820.1:c.2620G>T, NM_001347823.1:c.2611G>T, NM_001347826.1:c.1594G>T, NM_001347822.1:c.2164G>T, XM_011539946.3:c.2791G>T, XM_011539946.2:c.2791G>T, XM_011539946.1:c.2791G>T, XM_047425466.1:c.1774G>T, NP_060715.2:p.Ala931Ser, NP_001334750.1:p.Ala722Ser, NP_001334754.1:p.Ala662Ser, NP_001137468.1:p.Ala874Ser, NP_001334753.1:p.Ala871Ser, NP_001137469.1:p.Ala722Ser, NP_001334748.1:p.Ala931Ser, NP_001334749.1:p.Ala874Ser, NP_001334752.1:p.Ala871Ser, NP_001334755.1:p.Ala532Ser, NP_001334751.1:p.Ala722Ser, XP_011538248.1:p.Ala931Ser, XP_047281422.1:p.Ala592Ser

Select item 147378396920.

rs1473783969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:49745946 (GRCh38)
10:50953992 (GRCh37)
Canonical SPDI:: NC_000010.11:49745945:C:A
Gene:: OGDHL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49745946C>A, NC_000010.10:g.50953992C>A, NG_052636.1:g.21434G>T, NM_018245.3:c.1328G>T, NM_018245.2:c.1328G>T, NM_001347821.2:c.701G>T, NM_001347821.1:c.701G>T, NR_144683.2:n.1414G>T, NR_144683.1:n.1470G>T, NR_144686.2:n.1323G>T, NR_144686.1:n.1379G>T, NM_001143996.2:c.1157G>T, NM_001143996.1:c.1157G>T, NR_144682.2:n.1243G>T, NR_144682.1:n.1299G>T, NR_144684.2:n.1152G>T, NR_144684.1:n.1208G>T, NM_001143997.2:c.701G>T, NM_001143997.1:c.701G>T, NR_144685.2:n.1038G>T, NR_144685.1:n.1094G>T, NM_001347819.1:c.1328G>T, NM_001347820.1:c.1157G>T, NM_001347822.1:c.701G>T, XM_011539946.3:c.1328G>T, XM_011539946.2:c.1328G>T, XM_011539946.1:c.1328G>T, XM_047425466.1:c.311G>T, NP_060715.2:p.Arg443Leu, NP_001334750.1:p.Arg234Leu, NP_001137468.1:p.Arg386Leu, NP_001137469.1:p.Arg234Leu, NP_001334748.1:p.Arg443Leu, NP_001334749.1:p.Arg386Leu, NP_001334751.1:p.Arg234Leu, XP_011538248.1:p.Arg443Leu, XP_047281422.1:p.Arg104Leu

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