SNP Links for Protein (Select 21735621) - SNP

Links from Protein

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Select item 14784970071.

rs1478497007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:76058000 (GRCh38)
7:75687318 (GRCh37)
Canonical SPDI:: NC_000007.14:76057999:T:G
Gene:: MDH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.76058000T>G, NC_000007.13:g.75687318T>G, NG_052976.1:g.14982T>G, NM_005918.4:c.351T>G, NM_005918.3:c.351T>G, NM_005918.2:c.351T>G, NM_001282403.2:c.351T>G, NM_001282403.1:c.351T>G, NM_001282404.2:c.30T>G, NM_001282404.1:c.30T>G, NW_003871064.1:g.3587236T>G, NP_005909.2:p.Asn117Lys, NP_001269332.1:p.Asn117Lys, NP_001269333.1:p.Asn10Lys

Select item 14749054432.

rs1474905443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:76057484 (GRCh38)
7:75686802 (GRCh37)
Canonical SPDI:: NC_000007.14:76057483:A:G
Gene:: MDH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.76057484A>G, NC_000007.13:g.75686802A>G, NG_052976.1:g.14466A>G, NM_005918.4:c.310A>G, NM_005918.3:c.310A>G, NM_005918.2:c.310A>G, NM_001282403.2:c.310A>G, NM_001282403.1:c.310A>G, NM_001282404.2:c.-12A>G, NM_001282404.1:c.-12A>G, NW_003871064.1:g.3586720A>G, NP_005909.2:p.Arg104Gly, NP_001269332.1:p.Arg104Gly

Select item 14709741183.

rs1470974118 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:76060429 (GRCh38)
7:75689747 (GRCh37)
Canonical SPDI:: NC_000007.14:76060428:CCCC:CCC
Gene:: MDH2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000007.14:g.76060432del, NC_000007.13:g.75689750del, NG_052976.1:g.17414del, NM_005918.4:c.489del, NM_005918.3:c.489del, NM_005918.2:c.489del, NM_001282404.2:c.168del, NM_001282404.1:c.168del, NW_003871064.1:g.3589668del, NP_005909.2:p.Asn164fs, NP_001269333.1:p.Asn57fs

Select item 14690396964.

rs1469039696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:76063570 (GRCh38)
7:75692888 (GRCh37)
Canonical SPDI:: NC_000007.14:76063569:C:T
Gene:: MDH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_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_000007.14:g.76063570C>T, NC_000007.13:g.75692888C>T, NG_052976.1:g.20552C>T, NM_005918.4:c.611C>T, NM_005918.3:c.611C>T, NM_005918.2:c.611C>T, NM_001282403.2:c.485C>T, NM_001282403.1:c.485C>T, NM_001282404.2:c.290C>T, NM_001282404.1:c.290C>T, NW_003871064.1:g.3592806C>T, NP_005909.2:p.Thr204Ile, NP_001269332.1:p.Thr162Ile, NP_001269333.1:p.Thr97Ile

Select item 14656887235.

rs1465688723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:76066409 (GRCh38)
7:75695727 (GRCh37)
Canonical SPDI:: NC_000007.14:76066408:G:A
Gene:: MDH2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,terminator_codon_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.76066409G>A, NC_000007.13:g.75695727G>A, NG_052976.1:g.23391G>A, NM_005918.4:c.1016G>A, NM_005918.3:c.1016G>A, NM_005918.2:c.1016G>A, NM_001282403.2:c.890G>A, NM_001282403.1:c.890G>A, NM_001282404.2:c.695G>A, NM_001282404.1:c.695G>A, NW_003871064.1:g.3595645G>A

Select item 14546627916.

rs1454662791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:76060480 (GRCh38)
7:75689798 (GRCh37)
Canonical SPDI:: NC_000007.14:76060479:C:A,NC_000007.14:76060479:C:G
Gene:: MDH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
A=0.001027/3 (KOREAN)
HGVS:: NC_000007.14:g.76060480C>A, NC_000007.14:g.76060480C>G, NC_000007.13:g.75689798C>A, NC_000007.13:g.75689798C>G, NG_052976.1:g.17462C>A, NG_052976.1:g.17462C>G, NM_005918.4:c.537C>A, NM_005918.4:c.537C>G, NM_005918.3:c.537C>A, NM_005918.3:c.537C>G, NM_005918.2:c.537C>A, NM_005918.2:c.537C>G, NM_001282404.2:c.216C>A, NM_001282404.2:c.216C>G, NM_001282404.1:c.216C>A, NM_001282404.1:c.216C>G, NW_003871064.1:g.3589716C>A, NW_003871064.1:g.3589716C>G

Select item 14460099607.

rs1446009960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:76058046 (GRCh38)
7:75687364 (GRCh37)
Canonical SPDI:: NC_000007.14:76058045:C:G
Gene:: MDH2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.76058046C>G, NC_000007.13:g.75687364C>G, NG_052976.1:g.15028C>G, NM_005918.4:c.397C>G, NM_005918.3:c.397C>G, NM_005918.2:c.397C>G, NM_001282403.2:c.397C>G, NM_001282403.1:c.397C>G, NM_001282404.2:c.76C>G, NM_001282404.1:c.76C>G, NW_003871064.1:g.3587282C>G, NP_005909.2:p.Pro133Ala, NP_001269332.1:p.Pro133Ala, NP_001269333.1:p.Pro26Ala

Select item 14411808668.

rs1441180866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:76064877 (GRCh38)
7:75694195 (GRCh37)
Canonical SPDI:: NC_000007.14:76064876:A:C,NC_000007.14:76064876:A:G
Gene:: MDH2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.76064877A>C, NC_000007.14:g.76064877A>G, NC_000007.13:g.75694195A>C, NC_000007.13:g.75694195A>G, NG_052976.1:g.21859A>C, NG_052976.1:g.21859A>G, NM_005918.4:c.809A>C, NM_005918.4:c.809A>G, NM_005918.3:c.809A>C, NM_005918.3:c.809A>G, NM_005918.2:c.809A>C, NM_005918.2:c.809A>G, NM_001282403.2:c.683A>C, NM_001282403.2:c.683A>G, NM_001282403.1:c.683A>C, NM_001282403.1:c.683A>G, NM_001282404.2:c.488A>C, NM_001282404.2:c.488A>G, NM_001282404.1:c.488A>C, NM_001282404.1:c.488A>G, NW_003871064.1:g.3594113A>C, NW_003871064.1:g.3594113A>G, NP_005909.2:p.Glu270Ala, NP_005909.2:p.Glu270Gly, NP_001269332.1:p.Glu228Ala, NP_001269332.1:p.Glu228Gly, NP_001269333.1:p.Glu163Ala, NP_001269333.1:p.Glu163Gly

Select item 14410602289.

rs1441060228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:76058008 (GRCh38)
7:75687326 (GRCh37)
Canonical SPDI:: NC_000007.14:76058007:T:C
Gene:: MDH2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000073/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000223/1 (Estonian)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.76058008T>C, NC_000007.13:g.75687326T>C, NG_052976.1:g.14990T>C, NM_005918.4:c.359T>C, NM_005918.3:c.359T>C, NM_005918.2:c.359T>C, NM_001282403.2:c.359T>C, NM_001282403.1:c.359T>C, NM_001282404.2:c.38T>C, NM_001282404.1:c.38T>C, NW_003871064.1:g.3587244T>C, NP_005909.2:p.Ile120Thr, NP_001269332.1:p.Ile120Thr, NP_001269333.1:p.Ile13Thr

Select item 141372560610.

rs1413725606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:76057970 (GRCh38)
7:75687288 (GRCh37)
Canonical SPDI:: NC_000007.14:76057969:C:T
Gene:: MDH2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_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_000007.14:g.76057970C>T, NC_000007.13:g.75687288C>T, NG_052976.1:g.14952C>T, NM_005918.4:c.321C>T, NM_005918.3:c.321C>T, NM_005918.2:c.321C>T, NM_001282403.2:c.321C>T, NM_001282403.1:c.321C>T, NM_001282404.2:c.-1C>T, NM_001282404.1:c.-1C>T, NW_003871064.1:g.3587206C>T

Select item 141203619811.

rs1412036198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:76048172 (GRCh38)
7:75677490 (GRCh37)
Canonical SPDI:: NC_000007.14:76048171:C:A,NC_000007.14:76048171:C:T
Gene:: MDH2 (Varview), STYXL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.76048172C>A, NC_000007.14:g.76048172C>T, NC_000007.13:g.75677490C>A, NC_000007.13:g.75677490C>T, NG_052976.1:g.5154C>A, NG_052976.1:g.5154C>T, NM_005918.4:c.12C>A, NM_005918.4:c.12C>T, NM_005918.3:c.12C>A, NM_005918.3:c.12C>T, NM_005918.2:c.12C>A, NM_005918.2:c.12C>T, NM_001282403.2:c.12C>A, NM_001282403.2:c.12C>T, NM_001282403.1:c.12C>A, NM_001282403.1:c.12C>T, NM_001282404.2:c.-141C>A, NM_001282404.2:c.-141C>T, NM_001282404.1:c.-141C>A, NM_001282404.1:c.-141C>T, NR_104165.2:n.67C>A, NR_104165.2:n.67C>T, NR_104165.1:n.154C>A, NR_104165.1:n.154C>T, NW_003871064.1:g.3577408C>A, NW_003871064.1:g.3577408C>T

Select item 140842174612.

rs1408421746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:76060444 (GRCh38)
7:75689762 (GRCh37)
Canonical SPDI:: NC_000007.14:76060443:C:T
Gene:: MDH2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.76060444C>T, NC_000007.13:g.75689762C>T, NG_052976.1:g.17426C>T, NM_005918.4:c.501C>T, NM_005918.3:c.501C>T, NM_005918.2:c.501C>T, NM_001282404.2:c.180C>T, NM_001282404.1:c.180C>T, NW_003871064.1:g.3589680C>T

Select item 140442537313.

rs1404425373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:76054842 (GRCh38)
7:75684160 (GRCh37)
Canonical SPDI:: NC_000007.14:76054841:G:A
Gene:: MDH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_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_000007.14:g.76054842G>A, NC_000007.13:g.75684160G>A, NG_052976.1:g.11824G>A, NM_005918.4:c.79G>A, NM_005918.3:c.79G>A, NM_005918.2:c.79G>A, NM_001282403.2:c.79G>A, NM_001282403.1:c.79G>A, NW_003871064.1:g.3584078G>A, NP_005909.2:p.Val27Ile, NP_001269332.1:p.Val27Ile

Select item 140006804214.

rs1400068042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:76057418 (GRCh38)
7:75686736 (GRCh37)
Canonical SPDI:: NC_000007.14:76057417:G:A
Gene:: MDH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000034/9 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.76057418G>A, NC_000007.13:g.75686736G>A, NG_052976.1:g.14400G>A, NM_005918.4:c.244G>A, NM_005918.3:c.244G>A, NM_005918.2:c.244G>A, NM_001282403.2:c.244G>A, NM_001282403.1:c.244G>A, NM_001282404.2:c.-78G>A, NM_001282404.1:c.-78G>A, NW_003871064.1:g.3586654G>A, NP_005909.2:p.Gly82Arg, NP_001269332.1:p.Gly82Arg

Select item 136970425115.

rs1369704251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:76064434 (GRCh38)
7:75693752 (GRCh37)
Canonical SPDI:: NC_000007.14:76064433:A:G
Gene:: MDH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000007.14:g.76064434A>G, NC_000007.13:g.75693752A>G, NG_052976.1:g.21416A>G, NM_005918.4:c.729A>G, NM_005918.3:c.729A>G, NM_005918.2:c.729A>G, NM_001282403.2:c.603A>G, NM_001282403.1:c.603A>G, NM_001282404.2:c.408A>G, NM_001282404.1:c.408A>G, NW_003871064.1:g.3593670A>G

Select item 136274503016.

rs1362745030 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:76064871 (GRCh38)
7:75694190 (GRCh37)
Canonical SPDI:: NC_000007.14:76064871:AAA:AAAA
Gene:: MDH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.76064874dup, NC_000007.13:g.75694192dup, NG_052976.1:g.21856dup, NM_005918.4:c.806dup, NM_005918.3:c.806dup, NM_005918.2:c.806dup, NM_001282403.2:c.680dup, NM_001282403.1:c.680dup, NM_001282404.2:c.485dup, NM_001282404.1:c.485dup, NW_003871064.1:g.3594110dup, NP_005909.2:p.Glu270fs, NP_001269332.1:p.Glu228fs, NP_001269333.1:p.Glu163fs

Select item 136005371717.

rs1360053717 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:76057456 (GRCh38)
7:75686774 (GRCh37)
Canonical SPDI:: NC_000007.14:76057455:T:A
Gene:: MDH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.76057456T>A, NC_000007.13:g.75686774T>A, NG_052976.1:g.14438T>A, NM_005918.4:c.282T>A, NM_005918.3:c.282T>A, NM_005918.2:c.282T>A, NM_001282403.2:c.282T>A, NM_001282403.1:c.282T>A, NM_001282404.2:c.-40T>A, NM_001282404.1:c.-40T>A, NW_003871064.1:g.3586692T>A, NP_005909.2:p.Asp94Glu, NP_001269332.1:p.Asp94Glu

Select item 135939423418.

rs1359394234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:76060474 (GRCh38)
7:75689792 (GRCh37)
Canonical SPDI:: NC_000007.14:76060473:C:A,NC_000007.14:76060473:C:G
Gene:: MDH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
A=0.001027/3 (KOREAN)
HGVS:: NC_000007.14:g.76060474C>A, NC_000007.14:g.76060474C>G, NC_000007.13:g.75689792C>A, NC_000007.13:g.75689792C>G, NG_052976.1:g.17456C>A, NG_052976.1:g.17456C>G, NM_005918.4:c.531C>A, NM_005918.4:c.531C>G, NM_005918.3:c.531C>A, NM_005918.3:c.531C>G, NM_005918.2:c.531C>A, NM_005918.2:c.531C>G, NM_001282404.2:c.210C>A, NM_001282404.2:c.210C>G, NM_001282404.1:c.210C>A, NM_001282404.1:c.210C>G, NW_003871064.1:g.3589710C>A, NW_003871064.1:g.3589710C>G

Select item 135447996519.

rs1354479965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:76057423 (GRCh38)
7:75686741 (GRCh37)
Canonical SPDI:: NC_000007.14:76057422:T:A
Gene:: MDH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.76057423T>A, NC_000007.13:g.75686741T>A, NG_052976.1:g.14405T>A, NM_005918.4:c.249T>A, NM_005918.3:c.249T>A, NM_005918.2:c.249T>A, NM_001282403.2:c.249T>A, NM_001282403.1:c.249T>A, NM_001282404.2:c.-73T>A, NM_001282404.1:c.-73T>A, NW_003871064.1:g.3586659T>A

Select item 134662827420.

rs1346628274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:76066371 (GRCh38)
7:75695689 (GRCh37)
Canonical SPDI:: NC_000007.14:76066370:C:T
Gene:: MDH2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.76066371C>T, NC_000007.13:g.75695689C>T, NG_052976.1:g.23353C>T, NM_005918.4:c.978C>T, NM_005918.3:c.978C>T, NM_005918.2:c.978C>T, NM_001282403.2:c.852C>T, NM_001282403.1:c.852C>T, NM_001282404.2:c.657C>T, NM_001282404.1:c.657C>T, NW_003871064.1:g.3595607C>T

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