SNP Links for Protein (Select 41872507) - SNP

Links from Protein

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Select item 14903411941.

rs1490341194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:46372814 (GRCh38)
11:46394364 (GRCh37)
Canonical SPDI:: NC_000011.10:46372813:C:T
Gene:: DGKZ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.46372814C>T, NC_000011.9:g.46394364C>T, NG_047092.1:g.44910C>T, NM_003646.4:c.1115C>T, NM_003646.3:c.1115C>T, NM_201532.3:c.1163C>T, NM_201532.2:c.1163C>T, NM_201533.3:c.1127C>T, NM_001105540.2:c.1679C>T, NM_001105540.1:c.1679C>T, NM_001199266.2:c.1115C>T, NM_001199266.1:c.1115C>T, NM_001199267.2:c.1112C>T, NM_001199267.1:c.1112C>T, NM_001199268.2:c.1046C>T, NM_001199268.1:c.1046C>T, NP_003637.2:p.Pro372Leu, NP_963290.1:p.Pro388Leu, NP_963291.2:p.Pro376Leu, NP_001099010.1:p.Pro560Leu, NP_001186195.1:p.Pro372Leu, NP_001186196.1:p.Pro371Leu, NP_001186197.1:p.Pro349Leu

Select item 14897179052.

rs1489717905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:46379890 (GRCh38)
11:46401440 (GRCh37)
Canonical SPDI:: NC_000011.10:46379889:G:A
Gene:: MDK (Varview), DGKZ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46379890G>A, NC_000011.9:g.46401440G>A, NG_047092.1:g.51986G>A, NM_003646.4:c.2733G>A, NM_003646.3:c.2733G>A, NM_201532.3:c.2781G>A, NM_201532.2:c.2781G>A, NM_201533.3:c.2745G>A, NM_001105540.2:c.3297G>A, NM_001105540.1:c.3297G>A, NM_001199266.2:c.2748G>A, NM_001199266.1:c.2748G>A, NM_001199267.2:c.2730G>A, NM_001199267.1:c.2730G>A, NM_001199268.2:c.2664G>A, NM_001199268.1:c.2664G>A

Select item 14895485113.

rs1489548511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:46347683 (GRCh38)
11:46369233 (GRCh37)
Canonical SPDI:: NC_000011.10:46347682:C:A
Gene:: DGKZ (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000011.10:g.46347683C>A, NC_000011.9:g.46369233C>A, NG_047092.1:g.19779C>A, NM_003646.4:c.24C>A, NM_003646.3:c.24C>A, NM_001199266.2:c.24C>A, NM_001199266.1:c.24C>A, NM_001199267.2:c.24C>A, NM_001199267.1:c.24C>A, NM_001199268.2:c.24C>A, NM_001199268.1:c.24C>A

Select item 14891771714.

rs1489177171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:46376118 (GRCh38)
11:46397668 (GRCh37)
Canonical SPDI:: NC_000011.10:46376117:C:T
Gene:: DGKZ (Varview), MIR4688 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46376118C>T, NC_000011.9:g.46397668C>T, NG_047092.1:g.48214C>T, NM_003646.4:c.2064C>T, NM_003646.3:c.2064C>T, NM_201532.3:c.2112C>T, NM_201532.2:c.2112C>T, NM_201533.3:c.2076C>T, NM_001105540.2:c.2628C>T, NM_001105540.1:c.2628C>T, NM_001199266.2:c.2064C>T, NM_001199266.1:c.2064C>T, NM_001199267.2:c.2061C>T, NM_001199267.1:c.2061C>T, NM_001199268.2:c.1995C>T, NM_001199268.1:c.1995C>T

Select item 14881964875.

rs1488196487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:46379051 (GRCh38)
11:46400601 (GRCh37)
Canonical SPDI:: NC_000011.10:46379050:C:G
Gene:: MDK (Varview), DGKZ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.46379051C>G, NC_000011.9:g.46400601C>G, NG_047092.1:g.51147C>G, NM_003646.4:c.2479C>G, NM_003646.3:c.2479C>G, NM_201532.3:c.2527C>G, NM_201532.2:c.2527C>G, NM_201533.3:c.2491C>G, NM_001105540.2:c.3043C>G, NM_001105540.1:c.3043C>G, NM_001199266.2:c.2479C>G, NM_001199266.1:c.2479C>G, NM_001199267.2:c.2476C>G, NM_001199267.1:c.2476C>G, NM_001199268.2:c.2410C>G, NM_001199268.1:c.2410C>G, NP_003637.2:p.Leu827Val, NP_963290.1:p.Leu843Val, NP_963291.2:p.Leu831Val, NP_001099010.1:p.Leu1015Val, NP_001186195.1:p.Leu827Val, NP_001186196.1:p.Leu826Val, NP_001186197.1:p.Leu804Val

Select item 14870671006.

rs1487067100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:46379542 (GRCh38)
11:46401092 (GRCh37)
Canonical SPDI:: NC_000011.10:46379541:G:A
Gene:: MDK (Varview), DGKZ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46379542G>A, NC_000011.9:g.46401092G>A, NG_047092.1:g.51638G>A, NM_003646.4:c.2647G>A, NM_003646.3:c.2647G>A, NM_201532.3:c.2695G>A, NM_201532.2:c.2695G>A, NM_201533.3:c.2659G>A, NM_001105540.2:c.3211G>A, NM_001105540.1:c.3211G>A, NM_001199266.2:c.2662G>A, NM_001199266.1:c.2662G>A, NM_001199267.2:c.2644G>A, NM_001199267.1:c.2644G>A, NM_001199268.2:c.2578G>A, NM_001199268.1:c.2578G>A, NP_003637.2:p.Ala883Thr, NP_963290.1:p.Ala899Thr, NP_963291.2:p.Ala887Thr, NP_001099010.1:p.Ala1071Thr, NP_001186195.1:p.Ala888Thr, NP_001186196.1:p.Ala882Thr, NP_001186197.1:p.Ala860Thr

Select item 14867419397.

rs1486741939 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:46376385 (GRCh38)
11:46397935 (GRCh37)
Canonical SPDI:: NC_000011.10:46376384:T:G
Gene:: DGKZ (Varview), MIR4688 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.46376385T>G, NC_000011.9:g.46397935T>G, NG_047092.1:g.48481T>G, NM_003646.4:c.2149T>G, NM_003646.3:c.2149T>G, NM_201532.3:c.2197T>G, NM_201532.2:c.2197T>G, NM_201533.3:c.2161T>G, NM_001105540.2:c.2713T>G, NM_001105540.1:c.2713T>G, NM_001199266.2:c.2149T>G, NM_001199266.1:c.2149T>G, NM_001199267.2:c.2146T>G, NM_001199267.1:c.2146T>G, NM_001199268.2:c.2080T>G, NM_001199268.1:c.2080T>G, NP_003637.2:p.Cys717Gly, NP_963290.1:p.Cys733Gly, NP_963291.2:p.Cys721Gly, NP_001099010.1:p.Cys905Gly, NP_001186195.1:p.Cys717Gly, NP_001186196.1:p.Cys716Gly, NP_001186197.1:p.Cys694Gly

Select item 14858062598.

rs1485806259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:46378198 (GRCh38)
11:46399748 (GRCh37)
Canonical SPDI:: NC_000011.10:46378197:G:A
Gene:: DGKZ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.46378198G>A, NC_000011.9:g.46399748G>A, NG_047092.1:g.50294G>A, NM_003646.4:c.2343G>A, NM_003646.3:c.2343G>A, NM_201532.3:c.2391G>A, NM_201532.2:c.2391G>A, NM_201533.3:c.2355G>A, NM_001105540.2:c.2907G>A, NM_001105540.1:c.2907G>A, NM_001199266.2:c.2343G>A, NM_001199266.1:c.2343G>A, NM_001199267.2:c.2340G>A, NM_001199267.1:c.2340G>A, NM_001199268.2:c.2274G>A, NM_001199268.1:c.2274G>A

Select item 14852789519.

rs1485278951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:46375912 (GRCh38)
11:46397462 (GRCh37)
Canonical SPDI:: NC_000011.10:46375911:G:A
Gene:: DGKZ (Varview), MIR4688 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46375912G>A, NC_000011.9:g.46397462G>A, NG_047092.1:g.48008G>A, NM_003646.4:c.1972G>A, NM_003646.3:c.1972G>A, NM_201532.3:c.2020G>A, NM_201532.2:c.2020G>A, NM_201533.3:c.1984G>A, NM_001105540.2:c.2536G>A, NM_001105540.1:c.2536G>A, NM_001199266.2:c.1972G>A, NM_001199266.1:c.1972G>A, NM_001199267.2:c.1969G>A, NM_001199267.1:c.1969G>A, NM_001199268.2:c.1903G>A, NM_001199268.1:c.1903G>A, NP_003637.2:p.Glu658Lys, NP_963290.1:p.Glu674Lys, NP_963291.2:p.Glu662Lys, NP_001099010.1:p.Glu846Lys, NP_001186195.1:p.Glu658Lys, NP_001186196.1:p.Glu657Lys, NP_001186197.1:p.Glu635Lys

Select item 148246077310.

rs1482460773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:46367314 (GRCh38)
11:46388864 (GRCh37)
Canonical SPDI:: NC_000011.10:46367313:T:A
Gene:: DGKZ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46367314T>A, NC_000011.9:g.46388864T>A, NG_047092.1:g.39410T>A, NM_003646.4:c.185T>A, NM_003646.3:c.185T>A, NM_201532.3:c.236T>A, NM_201532.2:c.236T>A, NM_201533.3:c.200T>A, NM_001105540.2:c.752T>A, NM_001105540.1:c.752T>A, NM_001199266.2:c.185T>A, NM_001199266.1:c.185T>A, NM_001199267.2:c.185T>A, NM_001199267.1:c.185T>A, NM_001199268.2:c.185T>A, NM_001199268.1:c.185T>A, NP_003637.2:p.Leu62His, NP_963290.1:p.Leu79His, NP_963291.2:p.Leu67His, NP_001099010.1:p.Leu251His, NP_001186195.1:p.Leu62His, NP_001186196.1:p.Leu62His, NP_001186197.1:p.Leu62His

Select item 148183980011.

rs1481839800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:46374400 (GRCh38)
11:46395950 (GRCh37)
Canonical SPDI:: NC_000011.10:46374399:G:A
Gene:: DGKZ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46374400G>A, NC_000011.9:g.46395950G>A, NG_047092.1:g.46496G>A, NM_003646.4:c.1407G>A, NM_003646.3:c.1407G>A, NM_201532.3:c.1455G>A, NM_201532.2:c.1455G>A, NM_201533.3:c.1419G>A, NM_001105540.2:c.1971G>A, NM_001105540.1:c.1971G>A, NM_001199266.2:c.1407G>A, NM_001199266.1:c.1407G>A, NM_001199267.2:c.1404G>A, NM_001199267.1:c.1404G>A, NM_001199268.2:c.1338G>A, NM_001199268.1:c.1338G>A

Select item 148175502212.

rs1481755022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:46379902 (GRCh38)
11:46401452 (GRCh37)
Canonical SPDI:: NC_000011.10:46379901:G:A
Gene:: MDK (Varview), DGKZ (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46379902G>A, NC_000011.9:g.46401452G>A, NG_047092.1:g.51998G>A, NM_003646.4:c.2745G>A, NM_003646.3:c.2745G>A, NM_201532.3:c.2793G>A, NM_201532.2:c.2793G>A, NM_201533.3:c.2757G>A, NM_001105540.2:c.3309G>A, NM_001105540.1:c.3309G>A, NM_001199266.2:c.2760G>A, NM_001199266.1:c.2760G>A, NM_001199267.2:c.2742G>A, NM_001199267.1:c.2742G>A, NM_001199268.2:c.2676G>A, NM_001199268.1:c.2676G>A

Select item 147771414913.

rs1477714149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:46373084 (GRCh38)
11:46394634 (GRCh37)
Canonical SPDI:: NC_000011.10:46373083:G:A
Gene:: DGKZ (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000011.10:g.46373084G>A, NC_000011.9:g.46394634G>A, NG_047092.1:g.45180G>A, NM_003646.4:c.1309G>A, NM_003646.3:c.1309G>A, NM_201532.3:c.1357G>A, NM_201532.2:c.1357G>A, NM_201533.3:c.1321G>A, NM_001105540.2:c.1873G>A, NM_001105540.1:c.1873G>A, NM_001199266.2:c.1309G>A, NM_001199266.1:c.1309G>A, NM_001199267.2:c.1306G>A, NM_001199267.1:c.1306G>A, NM_001199268.2:c.1240G>A, NM_001199268.1:c.1240G>A, NP_003637.2:p.Glu437Lys, NP_963290.1:p.Glu453Lys, NP_963291.2:p.Glu441Lys, NP_001099010.1:p.Glu625Lys, NP_001186195.1:p.Glu437Lys, NP_001186196.1:p.Glu436Lys, NP_001186197.1:p.Glu414Lys

Select item 147763574514.

rs1477635745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:46379929 (GRCh38)
11:46401479 (GRCh37)
Canonical SPDI:: NC_000011.10:46379928:C:T
Gene:: MDK (Varview), DGKZ (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.46379929C>T, NC_000011.9:g.46401479C>T, NG_047092.1:g.52025C>T, NM_003646.4:c.2772C>T, NM_003646.3:c.2772C>T, NM_201532.3:c.2820C>T, NM_201532.2:c.2820C>T, NM_201533.3:c.2784C>T, NM_001105540.2:c.3336C>T, NM_001105540.1:c.3336C>T, NM_001199266.2:c.2787C>T, NM_001199266.1:c.2787C>T, NM_001199267.2:c.2769C>T, NM_001199267.1:c.2769C>T, NM_001199268.2:c.2703C>T, NM_001199268.1:c.2703C>T

Select item 147664886615.

rs1476648866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:46379506 (GRCh38)
11:46401056 (GRCh37)
Canonical SPDI:: NC_000011.10:46379505:C:A
Gene:: MDK (Varview), DGKZ (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46379506C>A, NC_000011.9:g.46401056C>A, NG_047092.1:g.51602C>A, NM_003646.4:c.2611C>A, NM_003646.3:c.2611C>A, NM_201532.3:c.2659C>A, NM_201532.2:c.2659C>A, NM_201533.3:c.2623C>A, NM_001105540.2:c.3175C>A, NM_001105540.1:c.3175C>A, NM_001199266.2:c.2626C>A, NM_001199266.1:c.2626C>A, NM_001199267.2:c.2608C>A, NM_001199267.1:c.2608C>A, NM_001199268.2:c.2542C>A, NM_001199268.1:c.2542C>A, NP_003637.2:p.Gln871Lys, NP_963290.1:p.Gln887Lys, NP_963291.2:p.Gln875Lys, NP_001099010.1:p.Gln1059Lys, NP_001186195.1:p.Gln876Lys, NP_001186196.1:p.Gln870Lys, NP_001186197.1:p.Gln848Lys

Select item 147579971216.

rs1475799712 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:46372823 (GRCh38)
11:46394373 (GRCh37)
Canonical SPDI:: NC_000011.10:46372822:CT:
Gene:: DGKZ (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46372823_46372824del, NC_000011.9:g.46394373_46394374del, NG_047092.1:g.44919_44920del, NM_003646.4:c.1124_1125del, NM_003646.3:c.1124_1125del, NM_201532.3:c.1172_1173del, NM_201532.2:c.1172_1173del, NM_201533.3:c.1136_1137del, NM_001105540.2:c.1688_1689del, NM_001105540.1:c.1688_1689del, NM_001199266.2:c.1124_1125del, NM_001199266.1:c.1124_1125del, NM_001199267.2:c.1121_1122del, NM_001199267.1:c.1121_1122del, NM_001199268.2:c.1055_1056del, NM_001199268.1:c.1055_1056del, NP_003637.2:p.Pro375fs, NP_963290.1:p.Pro391fs, NP_963291.2:p.Pro379fs, NP_001099010.1:p.Pro563fs, NP_001186195.1:p.Pro375fs, NP_001186196.1:p.Pro374fs, NP_001186197.1:p.Pro352fs

Select item 147548304817.

rs1475483048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:46367702 (GRCh38)
11:46389252 (GRCh37)
Canonical SPDI:: NC_000011.10:46367701:G:C,NC_000011.10:46367701:G:T
Gene:: DGKZ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.46367702G>C, NC_000011.10:g.46367702G>T, NC_000011.9:g.46389252G>C, NC_000011.9:g.46389252G>T, NG_047092.1:g.39798G>C, NG_047092.1:g.39798G>T, NM_003646.4:c.321G>C, NM_003646.4:c.321G>T, NM_003646.3:c.321G>C, NM_003646.3:c.321G>T, NM_201532.3:c.372G>C, NM_201532.3:c.372G>T, NM_201532.2:c.372G>C, NM_201532.2:c.372G>T, NM_201533.3:c.333G>C, NM_201533.3:c.333G>T, NM_001105540.2:c.888G>C, NM_001105540.2:c.888G>T, NM_001105540.1:c.888G>C, NM_001105540.1:c.888G>T, NM_001199266.2:c.321G>C, NM_001199266.2:c.321G>T, NM_001199266.1:c.321G>C, NM_001199266.1:c.321G>T, NM_001199267.2:c.321G>C, NM_001199267.2:c.321G>T, NM_001199267.1:c.321G>C, NM_001199267.1:c.321G>T, NM_001199268.2:c.321G>C, NM_001199268.2:c.321G>T, NM_001199268.1:c.321G>C, NM_001199268.1:c.321G>T

Select item 147360921418.

rs1473609214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:46375456 (GRCh38)
11:46397006 (GRCh37)
Canonical SPDI:: NC_000011.10:46375455:G:A
Gene:: DGKZ (Varview), MIR4688 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000011.10:g.46375456G>A, NC_000011.9:g.46397006G>A, NG_047092.1:g.47552G>A, NM_003646.4:c.1735G>A, NM_003646.3:c.1735G>A, NM_201532.3:c.1783G>A, NM_201532.2:c.1783G>A, NM_201533.3:c.1747G>A, NM_001105540.2:c.2299G>A, NM_001105540.1:c.2299G>A, NM_001199266.2:c.1735G>A, NM_001199266.1:c.1735G>A, NM_001199267.2:c.1732G>A, NM_001199267.1:c.1732G>A, NM_001199268.2:c.1666G>A, NM_001199268.1:c.1666G>A, NP_003637.2:p.Gly579Ser, NP_963290.1:p.Gly595Ser, NP_963291.2:p.Gly583Ser, NP_001099010.1:p.Gly767Ser, NP_001186195.1:p.Gly579Ser, NP_001186196.1:p.Gly578Ser, NP_001186197.1:p.Gly556Ser

Select item 147297801119.

rs1472978011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:46377114 (GRCh38)
11:46398664 (GRCh37)
Canonical SPDI:: NC_000011.10:46377113:T:C
Gene:: DGKZ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.46377114T>C, NC_000011.9:g.46398664T>C, NG_047092.1:g.49210T>C, NM_003646.4:c.2244T>C, NM_003646.3:c.2244T>C, NM_201532.3:c.2292T>C, NM_201532.2:c.2292T>C, NM_201533.3:c.2256T>C, NM_001105540.2:c.2808T>C, NM_001105540.1:c.2808T>C, NM_001199266.2:c.2244T>C, NM_001199266.1:c.2244T>C, NM_001199267.2:c.2241T>C, NM_001199267.1:c.2241T>C, NM_001199268.2:c.2175T>C, NM_001199268.1:c.2175T>C

Select item 147269697520.

rs1472696975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:46379547 (GRCh38)
11:46401097 (GRCh37)
Canonical SPDI:: NC_000011.10:46379546:G:A,NC_000011.10:46379546:G:C
Gene:: MDK (Varview), DGKZ (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.46379547G>A, NC_000011.10:g.46379547G>C, NC_000011.9:g.46401097G>A, NC_000011.9:g.46401097G>C, NG_047092.1:g.51643G>A, NG_047092.1:g.51643G>C, NM_003646.4:c.2652G>A, NM_003646.4:c.2652G>C, NM_003646.3:c.2652G>A, NM_003646.3:c.2652G>C, NM_201532.3:c.2700G>A, NM_201532.3:c.2700G>C, NM_201532.2:c.2700G>A, NM_201532.2:c.2700G>C, NM_201533.3:c.2664G>A, NM_201533.3:c.2664G>C, NM_001105540.2:c.3216G>A, NM_001105540.2:c.3216G>C, NM_001105540.1:c.3216G>A, NM_001105540.1:c.3216G>C, NM_001199266.2:c.2667G>A, NM_001199266.2:c.2667G>C, NM_001199266.1:c.2667G>A, NM_001199266.1:c.2667G>C, NM_001199267.2:c.2649G>A, NM_001199267.2:c.2649G>C, NM_001199267.1:c.2649G>A, NM_001199267.1:c.2649G>C, NM_001199268.2:c.2583G>A, NM_001199268.2:c.2583G>C, NM_001199268.1:c.2583G>A, NM_001199268.1:c.2583G>C

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