SNP Links for Protein (Select 767908550) - SNP

Links from Protein

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Select item 14905421661.

rs1490542166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:197511850 (GRCh38)
1:197480980 (GRCh37)
Canonical SPDI:: NC_000001.11:197511849:T:C
Gene:: DENND1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.197511850T>C, NC_000001.10:g.197480980T>C, XM_006711194.4:c.775A>G, XM_006711194.3:c.775A>G, XM_006711194.2:c.775A>G, XM_006711194.1:c.775A>G, XM_011509246.3:c.1837A>G, XM_011509246.2:c.1837A>G, XM_011509246.1:c.1837A>G, XM_011509249.3:c.1663A>G, XM_011509249.2:c.1663A>G, XM_011509249.1:c.1663A>G, XM_005244931.3:c.1633A>G, XM_005244931.2:c.1633A>G, XM_005244931.1:c.1633A>G, XM_011509248.3:c.1732A>G, XM_011509248.2:c.1732A>G, XM_011509248.1:c.1732A>G, XM_011509247.2:c.1777A>G, XM_011509247.1:c.1777A>G, NM_001195215.2:c.1693A>G, NM_001195215.1:c.1693A>G, XM_024453626.2:c.1090A>G, XM_024453626.1:c.1090A>G, NR_125340.2:n.1765A>G, NR_125340.1:n.1778A>G, XM_047447711.1:c.1090A>G, XM_047447700.1:c.1603A>G, XM_047447715.1:c.841A>G, NM_001142795.1:c.1633A>G, NM_019049.1:c.385A>G, XP_006711257.1:p.Met259Val, XP_011507548.1:p.Met613Val, XP_011507551.1:p.Met555Val, XP_005244988.1:p.Met545Val, XP_011507550.1:p.Met578Val, XP_011507549.1:p.Met593Val, NP_001182144.1:p.Met565Val, XP_024309394.1:p.Met364Val, XP_047303667.1:p.Met364Val, XP_047303656.1:p.Met535Val, XP_047303671.1:p.Met281Val

Select item 14890482872.

rs1489048287 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTT [Show Flanks]
Chromosome:: 1:197553062 (GRCh38)
1:197522193 (GRCh37)
Canonical SPDI:: NC_000001.11:197553062:T:TTTTT
Gene:: DENND1B (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.197553063_197553064insTTTT, NC_000001.10:g.197522193_197522194insTTTT, NM_144977.5:c.1199_1200insAAAA, NM_144977.4:c.1199_1200insAAAA, XM_006711194.4:c.281_282insAAAA, XM_006711194.3:c.281_282insAAAA, XM_006711194.2:c.281_282insAAAA, XM_006711194.1:c.281_282insAAAA, XM_011509246.3:c.1343_1344insAAAA, XM_011509246.2:c.1343_1344insAAAA, XM_011509246.1:c.1343_1344insAAAA, XM_011509249.3:c.1169_1170insAAAA, XM_011509249.2:c.1169_1170insAAAA, XM_011509249.1:c.1169_1170insAAAA, XM_005244931.3:c.1139_1140insAAAA, XM_005244931.2:c.1139_1140insAAAA, XM_005244931.1:c.1139_1140insAAAA, XM_011509248.3:c.1238_1239insAAAA, XM_011509248.2:c.1238_1239insAAAA, XM_011509248.1:c.1238_1239insAAAA, XM_011509247.2:c.1283_1284insAAAA, XM_011509247.1:c.1283_1284insAAAA, NM_001195215.2:c.1199_1200insAAAA, NM_001195215.1:c.1199_1200insAAAA, XM_024453626.2:c.596_597insAAAA, XM_024453626.1:c.596_597insAAAA, NM_001300858.2:c.1109_1110insAAAA, NM_001300858.1:c.1109_1110insAAAA, XM_047447711.1:c.596_597insAAAA, XM_047447700.1:c.1109_1110insAAAA, XM_047447715.1:c.347_348insAAAA, NM_001142795.1:c.1139_1140insAAAA, NM_019049.1:c.-110_-109insAAAA, NP_659414.2:p.Asp400fs, XP_006711257.1:p.Asp94fs, XP_011507548.1:p.Asp448fs, XP_011507551.1:p.Asp390fs, XP_005244988.1:p.Asp380fs, XP_011507550.1:p.Asp413fs, XP_011507549.1:p.Asp428fs, NP_001182144.1:p.Asp400fs, XP_024309394.1:p.Asp199fs, NP_001287787.1:p.Asp370fs, XP_047303667.1:p.Asp199fs, XP_047303656.1:p.Asp370fs, XP_047303671.1:p.Asp116fs

Select item 14873747273.

rs1487374727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:197617753 (GRCh38)
1:197586883 (GRCh37)
Canonical SPDI:: NC_000001.11:197617752:C:A,NC_000001.11:197617752:C:G
Gene:: DENND1B (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.197617753C>A, NC_000001.11:g.197617753C>G, NC_000001.10:g.197586883C>A, NC_000001.10:g.197586883C>G, NM_144977.5:c.679G>T, NM_144977.5:c.679G>C, NM_144977.4:c.679G>T, NM_144977.4:c.679G>C, XM_011509251.4:c.823G>T, XM_011509251.4:c.823G>C, XM_011509251.3:c.823G>T, XM_011509251.3:c.823G>C, XM_011509251.2:c.823G>T, XM_011509251.2:c.823G>C, XM_011509251.1:c.823G>T, XM_011509251.1:c.823G>C, XM_011509246.3:c.823G>T, XM_011509246.3:c.823G>C, XM_011509246.2:c.823G>T, XM_011509246.2:c.823G>C, XM_011509246.1:c.823G>T, XM_011509246.1:c.823G>C, XM_011509249.3:c.649G>T, XM_011509249.3:c.649G>C, XM_011509249.2:c.649G>T, XM_011509249.2:c.649G>C, XM_011509249.1:c.649G>T, XM_011509249.1:c.649G>C, XM_005244931.3:c.619G>T, XM_005244931.3:c.619G>C, XM_005244931.2:c.619G>T, XM_005244931.2:c.619G>C, XM_005244931.1:c.619G>T, XM_005244931.1:c.619G>C, XM_011509248.3:c.718G>T, XM_011509248.3:c.718G>C, XM_011509248.2:c.718G>T, XM_011509248.2:c.718G>C, XM_011509248.1:c.718G>T, XM_011509248.1:c.718G>C, XM_011509247.2:c.763G>T, XM_011509247.2:c.763G>C, XM_011509247.1:c.763G>T, XM_011509247.1:c.763G>C, NM_001195215.2:c.679G>T, NM_001195215.2:c.679G>C, NM_001195215.1:c.679G>T, NM_001195215.1:c.679G>C, XM_024453626.2:c.76G>T, XM_024453626.2:c.76G>C, XM_024453626.1:c.76G>T, XM_024453626.1:c.76G>C, NR_125340.2:n.944G>T, NR_125340.2:n.944G>C, NR_125340.1:n.957G>T, NR_125340.1:n.957G>C, NM_001300858.2:c.589G>T, NM_001300858.2:c.589G>C, NM_001300858.1:c.589G>T, NM_001300858.1:c.589G>C, XM_047447711.1:c.76G>T, XM_047447711.1:c.76G>C, XM_047447700.1:c.589G>T, XM_047447700.1:c.589G>C, XM_047447730.1:c.679G>T, XM_047447730.1:c.679G>C, XM_047447731.1:c.619G>T, XM_047447731.1:c.619G>C, XM_047447726.1:c.763G>T, XM_047447726.1:c.763G>C, NM_001142795.1:c.619G>T, NM_001142795.1:c.619G>C, NP_659414.2:p.Ala227Ser, NP_659414.2:p.Ala227Pro, XP_011507553.1:p.Ala275Ser, XP_011507553.1:p.Ala275Pro, XP_011507548.1:p.Ala275Ser, XP_011507548.1:p.Ala275Pro, XP_011507551.1:p.Ala217Ser, XP_011507551.1:p.Ala217Pro, XP_005244988.1:p.Ala207Ser, XP_005244988.1:p.Ala207Pro, XP_011507550.1:p.Ala240Ser, XP_011507550.1:p.Ala240Pro, XP_011507549.1:p.Ala255Ser, XP_011507549.1:p.Ala255Pro, NP_001182144.1:p.Ala227Ser, NP_001182144.1:p.Ala227Pro, XP_024309394.1:p.Ala26Ser, XP_024309394.1:p.Ala26Pro, NP_001287787.1:p.Ala197Ser, NP_001287787.1:p.Ala197Pro, XP_047303667.1:p.Ala26Ser, XP_047303667.1:p.Ala26Pro, XP_047303656.1:p.Ala197Ser, XP_047303656.1:p.Ala197Pro, XP_047303686.1:p.Ala227Ser, XP_047303686.1:p.Ala227Pro, XP_047303687.1:p.Ala207Ser, XP_047303687.1:p.Ala207Pro, XP_047303682.1:p.Ala255Ser, XP_047303682.1:p.Ala255Pro

Select item 14871393404.

rs1487139340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:197510699 (GRCh38)
1:197479829 (GRCh37)
Canonical SPDI:: NC_000001.11:197510698:C:G
Gene:: DENND1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197510699C>G, NC_000001.10:g.197479829C>G, XM_006711194.4:c.1171G>C, XM_006711194.3:c.1171G>C, XM_006711194.2:c.1171G>C, XM_006711194.1:c.1171G>C, XM_011509246.3:c.2233G>C, XM_011509246.2:c.2233G>C, XM_011509246.1:c.2233G>C, XM_011509249.3:c.2059G>C, XM_011509249.2:c.2059G>C, XM_011509249.1:c.2059G>C, XM_005244931.3:c.2029G>C, XM_005244931.2:c.2029G>C, XM_005244931.1:c.2029G>C, XM_011509248.3:c.2128G>C, XM_011509248.2:c.2128G>C, XM_011509248.1:c.2128G>C, XM_011509247.2:c.2173G>C, XM_011509247.1:c.2173G>C, NM_001195215.2:c.2089G>C, NM_001195215.1:c.2089G>C, XM_024453626.2:c.1486G>C, XM_024453626.1:c.1486G>C, NR_125340.2:n.2161G>C, NR_125340.1:n.2174G>C, XM_047447711.1:c.1486G>C, XM_047447700.1:c.1999G>C, XM_047447715.1:c.1237G>C, NM_001142795.1:c.2029G>C, NM_019049.1:c.781G>C, XP_006711257.1:p.Asp391His, XP_011507548.1:p.Asp745His, XP_011507551.1:p.Asp687His, XP_005244988.1:p.Asp677His, XP_011507550.1:p.Asp710His, XP_011507549.1:p.Asp725His, NP_001182144.1:p.Asp697His, XP_024309394.1:p.Asp496His, XP_047303667.1:p.Asp496His, XP_047303656.1:p.Asp667His, XP_047303671.1:p.Asp413His

Select item 14848911845.

rs1484891184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:197553066 (GRCh38)
1:197522196 (GRCh37)
Canonical SPDI:: NC_000001.11:197553065:G:A,NC_000001.11:197553065:G:C
Gene:: DENND1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.197553066G>A, NC_000001.11:g.197553066G>C, NC_000001.10:g.197522196G>A, NC_000001.10:g.197522196G>C, NM_144977.5:c.1196C>T, NM_144977.5:c.1196C>G, NM_144977.4:c.1196C>T, NM_144977.4:c.1196C>G, XM_006711194.4:c.278C>T, XM_006711194.4:c.278C>G, XM_006711194.3:c.278C>T, XM_006711194.3:c.278C>G, XM_006711194.2:c.278C>T, XM_006711194.2:c.278C>G, XM_006711194.1:c.278C>T, XM_006711194.1:c.278C>G, XM_011509246.3:c.1340C>T, XM_011509246.3:c.1340C>G, XM_011509246.2:c.1340C>T, XM_011509246.2:c.1340C>G, XM_011509246.1:c.1340C>T, XM_011509246.1:c.1340C>G, XM_011509249.3:c.1166C>T, XM_011509249.3:c.1166C>G, XM_011509249.2:c.1166C>T, XM_011509249.2:c.1166C>G, XM_011509249.1:c.1166C>T, XM_011509249.1:c.1166C>G, XM_005244931.3:c.1136C>T, XM_005244931.3:c.1136C>G, XM_005244931.2:c.1136C>T, XM_005244931.2:c.1136C>G, XM_005244931.1:c.1136C>T, XM_005244931.1:c.1136C>G, XM_011509248.3:c.1235C>T, XM_011509248.3:c.1235C>G, XM_011509248.2:c.1235C>T, XM_011509248.2:c.1235C>G, XM_011509248.1:c.1235C>T, XM_011509248.1:c.1235C>G, XM_011509247.2:c.1280C>T, XM_011509247.2:c.1280C>G, XM_011509247.1:c.1280C>T, XM_011509247.1:c.1280C>G, NM_001195215.2:c.1196C>T, NM_001195215.2:c.1196C>G, NM_001195215.1:c.1196C>T, NM_001195215.1:c.1196C>G, XM_024453626.2:c.593C>T, XM_024453626.2:c.593C>G, XM_024453626.1:c.593C>T, XM_024453626.1:c.593C>G, NM_001300858.2:c.1106C>T, NM_001300858.2:c.1106C>G, NM_001300858.1:c.1106C>T, NM_001300858.1:c.1106C>G, XM_047447711.1:c.593C>T, XM_047447711.1:c.593C>G, XM_047447700.1:c.1106C>T, XM_047447700.1:c.1106C>G, XM_047447715.1:c.344C>T, XM_047447715.1:c.344C>G, NM_001142795.1:c.1136C>T, NM_001142795.1:c.1136C>G, NM_019049.1:c.-113C>T, NM_019049.1:c.-113C>G, NP_659414.2:p.Ser399Phe, NP_659414.2:p.Ser399Cys, XP_006711257.1:p.Ser93Phe, XP_006711257.1:p.Ser93Cys, XP_011507548.1:p.Ser447Phe, XP_011507548.1:p.Ser447Cys, XP_011507551.1:p.Ser389Phe, XP_011507551.1:p.Ser389Cys, XP_005244988.1:p.Ser379Phe, XP_005244988.1:p.Ser379Cys, XP_011507550.1:p.Ser412Phe, XP_011507550.1:p.Ser412Cys, XP_011507549.1:p.Ser427Phe, XP_011507549.1:p.Ser427Cys, NP_001182144.1:p.Ser399Phe, NP_001182144.1:p.Ser399Cys, XP_024309394.1:p.Ser198Phe, XP_024309394.1:p.Ser198Cys, NP_001287787.1:p.Ser369Phe, NP_001287787.1:p.Ser369Cys, XP_047303667.1:p.Ser198Phe, XP_047303667.1:p.Ser198Cys, XP_047303656.1:p.Ser369Phe, XP_047303656.1:p.Ser369Cys, XP_047303671.1:p.Ser115Phe, XP_047303671.1:p.Ser115Cys

Select item 14838147996.

rs1483814799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:197545961 (GRCh38)
1:197515091 (GRCh37)
Canonical SPDI:: NC_000001.11:197545960:C:T
Gene:: DENND1B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.197545961C>T, NC_000001.10:g.197515091C>T, XM_006711194.4:c.393G>A, XM_006711194.3:c.393G>A, XM_006711194.2:c.393G>A, XM_006711194.1:c.393G>A, XM_011509246.3:c.1455G>A, XM_011509246.2:c.1455G>A, XM_011509246.1:c.1455G>A, XM_011509249.3:c.1281G>A, XM_011509249.2:c.1281G>A, XM_011509249.1:c.1281G>A, XM_005244931.3:c.1251G>A, XM_005244931.2:c.1251G>A, XM_005244931.1:c.1251G>A, XM_011509248.3:c.1350G>A, XM_011509248.2:c.1350G>A, XM_011509248.1:c.1350G>A, XM_011509247.2:c.1395G>A, XM_011509247.1:c.1395G>A, NM_001195215.2:c.1311G>A, NM_001195215.1:c.1311G>A, XM_024453626.2:c.708G>A, XM_024453626.1:c.708G>A, NR_125340.2:n.1383G>A, NR_125340.1:n.1396G>A, XM_047447711.1:c.708G>A, XM_047447700.1:c.1221G>A, XM_047447715.1:c.459G>A, NM_001142795.1:c.1251G>A, NM_019049.1:c.3G>A, XP_006711257.1:p.Met131Ile, XP_011507548.1:p.Met485Ile, XP_011507551.1:p.Met427Ile, XP_005244988.1:p.Met417Ile, XP_011507550.1:p.Met450Ile, XP_011507549.1:p.Met465Ile, NP_001182144.1:p.Met437Ile, XP_024309394.1:p.Met236Ile, XP_047303667.1:p.Met236Ile, XP_047303656.1:p.Met407Ile, XP_047303671.1:p.Met153Ile

Select item 14775342407.

rs1477534240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:197583187 (GRCh38)
1:197552317 (GRCh37)
Canonical SPDI:: NC_000001.11:197583186:G:T
Gene:: DENND1B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.197583187G>T, NC_000001.10:g.197552317G>T, NM_144977.5:c.1114C>A, NM_144977.4:c.1114C>A, XM_006711194.4:c.196C>A, XM_006711194.3:c.196C>A, XM_006711194.2:c.196C>A, XM_006711194.1:c.196C>A, XM_011509251.4:c.1258C>A, XM_011509251.3:c.1258C>A, XM_011509251.2:c.1258C>A, XM_011509251.1:c.1258C>A, XM_011509246.3:c.1258C>A, XM_011509246.2:c.1258C>A, XM_011509246.1:c.1258C>A, XM_011509249.3:c.1084C>A, XM_011509249.2:c.1084C>A, XM_011509249.1:c.1084C>A, XM_005244931.3:c.1054C>A, XM_005244931.2:c.1054C>A, XM_005244931.1:c.1054C>A, XM_011509248.3:c.1153C>A, XM_011509248.2:c.1153C>A, XM_011509248.1:c.1153C>A, XM_011509247.2:c.1198C>A, XM_011509247.1:c.1198C>A, NM_001195215.2:c.1114C>A, NM_001195215.1:c.1114C>A, XM_024453626.2:c.511C>A, XM_024453626.1:c.511C>A, NM_001300858.2:c.1024C>A, NM_001300858.1:c.1024C>A, XM_047447711.1:c.511C>A, XM_047447700.1:c.1024C>A, XM_047447715.1:c.262C>A, XM_047447730.1:c.1114C>A, XM_047447731.1:c.1054C>A, XM_047447726.1:c.1198C>A, NM_001142795.1:c.1054C>A, NP_659414.2:p.Leu372Met, XP_006711257.1:p.Leu66Met, XP_011507553.1:p.Leu420Met, XP_011507548.1:p.Leu420Met, XP_011507551.1:p.Leu362Met, XP_005244988.1:p.Leu352Met, XP_011507550.1:p.Leu385Met, XP_011507549.1:p.Leu400Met, NP_001182144.1:p.Leu372Met, XP_024309394.1:p.Leu171Met, NP_001287787.1:p.Leu342Met, XP_047303667.1:p.Leu171Met, XP_047303656.1:p.Leu342Met, XP_047303671.1:p.Leu88Met, XP_047303686.1:p.Leu372Met, XP_047303687.1:p.Leu352Met, XP_047303682.1:p.Leu400Met

Select item 14748267668.

rs1474826766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:197511810 (GRCh38)
1:197480940 (GRCh37)
Canonical SPDI:: NC_000001.11:197511809:T:G
Gene:: DENND1B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.197511810T>G, NC_000001.10:g.197480940T>G, XM_006711194.4:c.815A>C, XM_006711194.3:c.815A>C, XM_006711194.2:c.815A>C, XM_006711194.1:c.815A>C, XM_011509246.3:c.1877A>C, XM_011509246.2:c.1877A>C, XM_011509246.1:c.1877A>C, XM_011509249.3:c.1703A>C, XM_011509249.2:c.1703A>C, XM_011509249.1:c.1703A>C, XM_005244931.3:c.1673A>C, XM_005244931.2:c.1673A>C, XM_005244931.1:c.1673A>C, XM_011509248.3:c.1772A>C, XM_011509248.2:c.1772A>C, XM_011509248.1:c.1772A>C, XM_011509247.2:c.1817A>C, XM_011509247.1:c.1817A>C, NM_001195215.2:c.1733A>C, NM_001195215.1:c.1733A>C, XM_024453626.2:c.1130A>C, XM_024453626.1:c.1130A>C, NR_125340.2:n.1805A>C, NR_125340.1:n.1818A>C, XM_047447711.1:c.1130A>C, XM_047447700.1:c.1643A>C, XM_047447715.1:c.881A>C, NM_001142795.1:c.1673A>C, NM_019049.1:c.425A>C, XP_006711257.1:p.His272Pro, XP_011507548.1:p.His626Pro, XP_011507551.1:p.His568Pro, XP_005244988.1:p.His558Pro, XP_011507550.1:p.His591Pro, XP_011507549.1:p.His606Pro, NP_001182144.1:p.His578Pro, XP_024309394.1:p.His377Pro, XP_047303667.1:p.His377Pro, XP_047303656.1:p.His548Pro, XP_047303671.1:p.His294Pro

Select item 14738867939.

rs1473886793 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:197583199 (GRCh38)
1:197552329 (GRCh37)
Canonical SPDI:: NC_000001.11:197583198:T:C
Gene:: DENND1B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.197583199T>C, NC_000001.10:g.197552329T>C, NM_144977.5:c.1102A>G, NM_144977.4:c.1102A>G, XM_006711194.4:c.184A>G, XM_006711194.3:c.184A>G, XM_006711194.2:c.184A>G, XM_006711194.1:c.184A>G, XM_011509251.4:c.1246A>G, XM_011509251.3:c.1246A>G, XM_011509251.2:c.1246A>G, XM_011509251.1:c.1246A>G, XM_011509246.3:c.1246A>G, XM_011509246.2:c.1246A>G, XM_011509246.1:c.1246A>G, XM_011509249.3:c.1072A>G, XM_011509249.2:c.1072A>G, XM_011509249.1:c.1072A>G, XM_005244931.3:c.1042A>G, XM_005244931.2:c.1042A>G, XM_005244931.1:c.1042A>G, XM_011509248.3:c.1141A>G, XM_011509248.2:c.1141A>G, XM_011509248.1:c.1141A>G, XM_011509247.2:c.1186A>G, XM_011509247.1:c.1186A>G, NM_001195215.2:c.1102A>G, NM_001195215.1:c.1102A>G, XM_024453626.2:c.499A>G, XM_024453626.1:c.499A>G, NM_001300858.2:c.1012A>G, NM_001300858.1:c.1012A>G, XM_047447711.1:c.499A>G, XM_047447700.1:c.1012A>G, XM_047447715.1:c.250A>G, XM_047447730.1:c.1102A>G, XM_047447731.1:c.1042A>G, XM_047447726.1:c.1186A>G, NM_001142795.1:c.1042A>G, NP_659414.2:p.Met368Val, XP_006711257.1:p.Met62Val, XP_011507553.1:p.Met416Val, XP_011507548.1:p.Met416Val, XP_011507551.1:p.Met358Val, XP_005244988.1:p.Met348Val, XP_011507550.1:p.Met381Val, XP_011507549.1:p.Met396Val, NP_001182144.1:p.Met368Val, XP_024309394.1:p.Met167Val, NP_001287787.1:p.Met338Val, XP_047303667.1:p.Met167Val, XP_047303656.1:p.Met338Val, XP_047303671.1:p.Met84Val, XP_047303686.1:p.Met368Val, XP_047303687.1:p.Met348Val, XP_047303682.1:p.Met396Val

Select item 147222318010.

rs1472223180 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:197672120 (GRCh38)
1:197641250 (GRCh37)
Canonical SPDI:: NC_000001.11:197672119:AAA:AA
Gene:: DENND1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197672122del, NC_000001.10:g.197641252del, NM_144977.5:c.213del, NM_144977.4:c.213del, XM_011509251.4:c.357del, XM_011509251.3:c.357del, XM_011509251.2:c.357del, XM_011509251.1:c.357del, XM_011509246.3:c.357del, XM_011509246.2:c.357del, XM_011509246.1:c.357del, XM_011509249.3:c.183del, XM_011509249.2:c.183del, XM_011509249.1:c.183del, XM_005244931.3:c.213del, XM_005244931.2:c.213del, XM_005244931.1:c.213del, XM_011509248.3:c.252del, XM_011509248.2:c.252del, XM_011509248.1:c.252del, XM_011509247.2:c.357del, XM_011509247.1:c.357del, NM_001195215.2:c.213del, NM_001195215.1:c.213del, XM_024453626.2:c.-331del, XM_024453626.1:c.-331del, NR_125340.2:n.538del, NR_125340.1:n.551del, NM_001300858.2:c.183del, NM_001300858.1:c.183del, XM_047447711.1:c.-391del, XM_047447700.1:c.183del, XM_047447730.1:c.213del, XM_047447731.1:c.213del, XM_047447726.1:c.357del, NM_001142795.1:c.213del, NP_659414.2:p.Phe71fs, XP_011507553.1:p.Phe119fs, XP_011507548.1:p.Phe119fs, XP_011507551.1:p.Phe61fs, XP_005244988.1:p.Phe71fs, XP_011507550.1:p.Phe84fs, XP_011507549.1:p.Phe119fs, NP_001182144.1:p.Phe71fs, NP_001287787.1:p.Phe61fs, XP_047303656.1:p.Phe61fs, XP_047303686.1:p.Phe71fs, XP_047303687.1:p.Phe71fs, XP_047303682.1:p.Phe119fs

Select item 147201173611.

rs1472011736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:197540961 (GRCh38)
1:197510091 (GRCh37)
Canonical SPDI:: NC_000001.11:197540960:T:G
Gene:: DENND1B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_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_000001.11:g.197540961T>G, NC_000001.10:g.197510091T>G, XM_006711194.4:c.487A>C, XM_006711194.3:c.487A>C, XM_006711194.2:c.487A>C, XM_006711194.1:c.487A>C, XM_011509246.3:c.1549A>C, XM_011509246.2:c.1549A>C, XM_011509246.1:c.1549A>C, XM_011509249.3:c.1375A>C, XM_011509249.2:c.1375A>C, XM_011509249.1:c.1375A>C, XM_005244931.3:c.1345A>C, XM_005244931.2:c.1345A>C, XM_005244931.1:c.1345A>C, XM_011509248.3:c.1444A>C, XM_011509248.2:c.1444A>C, XM_011509248.1:c.1444A>C, XM_011509247.2:c.1489A>C, XM_011509247.1:c.1489A>C, NM_001195215.2:c.1405A>C, NM_001195215.1:c.1405A>C, XM_024453626.2:c.802A>C, XM_024453626.1:c.802A>C, NR_125340.2:n.1477A>C, NR_125340.1:n.1490A>C, XM_047447711.1:c.802A>C, XM_047447700.1:c.1315A>C, XM_047447715.1:c.553A>C, NM_001142795.1:c.1345A>C, NM_019049.1:c.97A>C, XP_006711257.1:p.Lys163Gln, XP_011507548.1:p.Lys517Gln, XP_011507551.1:p.Lys459Gln, XP_005244988.1:p.Lys449Gln, XP_011507550.1:p.Lys482Gln, XP_011507549.1:p.Lys497Gln, NP_001182144.1:p.Lys469Gln, XP_024309394.1:p.Lys268Gln, XP_047303667.1:p.Lys268Gln, XP_047303656.1:p.Lys439Gln, XP_047303671.1:p.Lys185Gln

Select item 147142412412.

rs1471424124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:197511781 (GRCh38)
1:197480911 (GRCh37)
Canonical SPDI:: NC_000001.11:197511780:C:T
Gene:: DENND1B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.197511781C>T, NC_000001.10:g.197480911C>T, XM_006711194.4:c.844G>A, XM_006711194.3:c.844G>A, XM_006711194.2:c.844G>A, XM_006711194.1:c.844G>A, XM_011509246.3:c.1906G>A, XM_011509246.2:c.1906G>A, XM_011509246.1:c.1906G>A, XM_011509249.3:c.1732G>A, XM_011509249.2:c.1732G>A, XM_011509249.1:c.1732G>A, XM_005244931.3:c.1702G>A, XM_005244931.2:c.1702G>A, XM_005244931.1:c.1702G>A, XM_011509248.3:c.1801G>A, XM_011509248.2:c.1801G>A, XM_011509248.1:c.1801G>A, XM_011509247.2:c.1846G>A, XM_011509247.1:c.1846G>A, NM_001195215.2:c.1762G>A, NM_001195215.1:c.1762G>A, XM_024453626.2:c.1159G>A, XM_024453626.1:c.1159G>A, NR_125340.2:n.1834G>A, NR_125340.1:n.1847G>A, XM_047447711.1:c.1159G>A, XM_047447700.1:c.1672G>A, XM_047447715.1:c.910G>A, NM_001142795.1:c.1702G>A, NM_019049.1:c.454G>A, XP_006711257.1:p.Ala282Thr, XP_011507548.1:p.Ala636Thr, XP_011507551.1:p.Ala578Thr, XP_005244988.1:p.Ala568Thr, XP_011507550.1:p.Ala601Thr, XP_011507549.1:p.Ala616Thr, NP_001182144.1:p.Ala588Thr, XP_024309394.1:p.Ala387Thr, XP_047303667.1:p.Ala387Thr, XP_047303656.1:p.Ala558Thr, XP_047303671.1:p.Ala304Thr

Select item 147062537413.

rs1470625374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:197617694 (GRCh38)
1:197586824 (GRCh37)
Canonical SPDI:: NC_000001.11:197617693:G:C
Gene:: DENND1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.197617694G>C, NC_000001.10:g.197586824G>C, NM_144977.5:c.738C>G, NM_144977.4:c.738C>G, XM_011509251.4:c.882C>G, XM_011509251.3:c.882C>G, XM_011509251.2:c.882C>G, XM_011509251.1:c.882C>G, XM_011509246.3:c.882C>G, XM_011509246.2:c.882C>G, XM_011509246.1:c.882C>G, XM_011509249.3:c.708C>G, XM_011509249.2:c.708C>G, XM_011509249.1:c.708C>G, XM_005244931.3:c.678C>G, XM_005244931.2:c.678C>G, XM_005244931.1:c.678C>G, XM_011509248.3:c.777C>G, XM_011509248.2:c.777C>G, XM_011509248.1:c.777C>G, XM_011509247.2:c.822C>G, XM_011509247.1:c.822C>G, NM_001195215.2:c.738C>G, NM_001195215.1:c.738C>G, XM_024453626.2:c.135C>G, XM_024453626.1:c.135C>G, NR_125340.2:n.1003C>G, NR_125340.1:n.1016C>G, NM_001300858.2:c.648C>G, NM_001300858.1:c.648C>G, XM_047447711.1:c.135C>G, XM_047447700.1:c.648C>G, XM_047447715.1:c.-69C>G, XM_047447730.1:c.738C>G, XM_047447731.1:c.678C>G, XM_047447726.1:c.822C>G, NM_001142795.1:c.678C>G, NP_659414.2:p.Ile246Met, XP_011507553.1:p.Ile294Met, XP_011507548.1:p.Ile294Met, XP_011507551.1:p.Ile236Met, XP_005244988.1:p.Ile226Met, XP_011507550.1:p.Ile259Met, XP_011507549.1:p.Ile274Met, NP_001182144.1:p.Ile246Met, XP_024309394.1:p.Ile45Met, NP_001287787.1:p.Ile216Met, XP_047303667.1:p.Ile45Met, XP_047303656.1:p.Ile216Met, XP_047303686.1:p.Ile246Met, XP_047303687.1:p.Ile226Met, XP_047303682.1:p.Ile274Met

Select item 146995960014.

rs1469959600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:197546750 (GRCh38)
1:197515880 (GRCh37)
Canonical SPDI:: NC_000001.11:197546749:A:G
Gene:: DENND1B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.197546750A>G, NC_000001.10:g.197515880A>G, XM_006711194.4:c.346T>C, XM_006711194.3:c.346T>C, XM_006711194.2:c.346T>C, XM_006711194.1:c.346T>C, XM_011509246.3:c.1408T>C, XM_011509246.2:c.1408T>C, XM_011509246.1:c.1408T>C, XM_011509249.3:c.1234T>C, XM_011509249.2:c.1234T>C, XM_011509249.1:c.1234T>C, XM_005244931.3:c.1204T>C, XM_005244931.2:c.1204T>C, XM_005244931.1:c.1204T>C, XM_011509248.3:c.1303T>C, XM_011509248.2:c.1303T>C, XM_011509248.1:c.1303T>C, XM_011509247.2:c.1348T>C, XM_011509247.1:c.1348T>C, NM_001195215.2:c.1264T>C, NM_001195215.1:c.1264T>C, XM_024453626.2:c.661T>C, XM_024453626.1:c.661T>C, NR_125340.2:n.1336T>C, NR_125340.1:n.1349T>C, XM_047447711.1:c.661T>C, XM_047447700.1:c.1174T>C, XM_047447715.1:c.412T>C, NM_001142795.1:c.1204T>C, NM_019049.1:c.-45T>C, XP_006711257.1:p.Trp116Arg, XP_011507548.1:p.Trp470Arg, XP_011507551.1:p.Trp412Arg, XP_005244988.1:p.Trp402Arg, XP_011507550.1:p.Trp435Arg, XP_011507549.1:p.Trp450Arg, NP_001182144.1:p.Trp422Arg, XP_024309394.1:p.Trp221Arg, XP_047303667.1:p.Trp221Arg, XP_047303656.1:p.Trp392Arg, XP_047303671.1:p.Trp138Arg

Select item 146979261715.

rs1469792617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:197658345 (GRCh38)
1:197627475 (GRCh37)
Canonical SPDI:: NC_000001.11:197658344:A:T
Gene:: DENND1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.197658345A>T, NC_000001.10:g.197627475A>T, NM_144977.5:c.321T>A, NM_144977.4:c.321T>A, XM_011509251.4:c.465T>A, XM_011509251.3:c.465T>A, XM_011509251.2:c.465T>A, XM_011509251.1:c.465T>A, XM_011509246.3:c.465T>A, XM_011509246.2:c.465T>A, XM_011509246.1:c.465T>A, XM_011509249.3:c.291T>A, XM_011509249.2:c.291T>A, XM_011509249.1:c.291T>A, XM_005244931.3:c.321T>A, XM_005244931.2:c.321T>A, XM_005244931.1:c.321T>A, XM_011509248.3:c.360T>A, XM_011509248.2:c.360T>A, XM_011509248.1:c.360T>A, XM_011509247.2:c.465T>A, XM_011509247.1:c.465T>A, NM_001195215.2:c.321T>A, NM_001195215.1:c.321T>A, XM_024453626.2:c.-223T>A, XM_024453626.1:c.-223T>A, NR_125340.2:n.646T>A, NR_125340.1:n.659T>A, NM_001300858.2:c.291T>A, NM_001300858.1:c.291T>A, XM_047447711.1:c.-283T>A, XM_047447700.1:c.291T>A, XM_047447730.1:c.321T>A, XM_047447731.1:c.321T>A, XM_047447726.1:c.465T>A, NM_001142795.1:c.321T>A, NP_659414.2:p.Tyr107Ter, XP_011507553.1:p.Tyr155Ter, XP_011507548.1:p.Tyr155Ter, XP_011507551.1:p.Tyr97Ter, XP_005244988.1:p.Tyr107Ter, XP_011507550.1:p.Tyr120Ter, XP_011507549.1:p.Tyr155Ter, NP_001182144.1:p.Tyr107Ter, NP_001287787.1:p.Tyr97Ter, XP_047303656.1:p.Tyr97Ter, XP_047303686.1:p.Tyr107Ter, XP_047303687.1:p.Tyr107Ter, XP_047303682.1:p.Tyr155Ter

Select item 146953251916.

rs1469532519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:197672050 (GRCh38)
1:197641180 (GRCh37)
Canonical SPDI:: NC_000001.11:197672049:A:T
Gene:: DENND1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.197672050A>T, NC_000001.10:g.197641180A>T, NM_144977.5:c.283T>A, NM_144977.4:c.283T>A, XM_011509251.4:c.427T>A, XM_011509251.3:c.427T>A, XM_011509251.2:c.427T>A, XM_011509251.1:c.427T>A, XM_011509246.3:c.427T>A, XM_011509246.2:c.427T>A, XM_011509246.1:c.427T>A, XM_011509249.3:c.253T>A, XM_011509249.2:c.253T>A, XM_011509249.1:c.253T>A, XM_005244931.3:c.283T>A, XM_005244931.2:c.283T>A, XM_005244931.1:c.283T>A, XM_011509248.3:c.322T>A, XM_011509248.2:c.322T>A, XM_011509248.1:c.322T>A, XM_011509247.2:c.427T>A, XM_011509247.1:c.427T>A, NM_001195215.2:c.283T>A, NM_001195215.1:c.283T>A, XM_024453626.2:c.-261T>A, XM_024453626.1:c.-261T>A, NR_125340.2:n.608T>A, NR_125340.1:n.621T>A, NM_001300858.2:c.253T>A, NM_001300858.1:c.253T>A, XM_047447711.1:c.-321T>A, XM_047447700.1:c.253T>A, XM_047447730.1:c.283T>A, XM_047447731.1:c.283T>A, XM_047447726.1:c.427T>A, NM_001142795.1:c.283T>A, NP_659414.2:p.Leu95Ile, XP_011507553.1:p.Leu143Ile, XP_011507548.1:p.Leu143Ile, XP_011507551.1:p.Leu85Ile, XP_005244988.1:p.Leu95Ile, XP_011507550.1:p.Leu108Ile, XP_011507549.1:p.Leu143Ile, NP_001182144.1:p.Leu95Ile, NP_001287787.1:p.Leu85Ile, XP_047303656.1:p.Leu85Ile, XP_047303686.1:p.Leu95Ile, XP_047303687.1:p.Leu95Ile, XP_047303682.1:p.Leu143Ile

Select item 146783307117.

rs1467833071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:197617679 (GRCh38)
1:197586809 (GRCh37)
Canonical SPDI:: NC_000001.11:197617678:T:G
Gene:: DENND1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.197617679T>G, NC_000001.10:g.197586809T>G, NM_144977.5:c.753A>C, NM_144977.4:c.753A>C, XM_011509251.4:c.897A>C, XM_011509251.3:c.897A>C, XM_011509251.2:c.897A>C, XM_011509251.1:c.897A>C, XM_011509246.3:c.897A>C, XM_011509246.2:c.897A>C, XM_011509246.1:c.897A>C, XM_011509249.3:c.723A>C, XM_011509249.2:c.723A>C, XM_011509249.1:c.723A>C, XM_005244931.3:c.693A>C, XM_005244931.2:c.693A>C, XM_005244931.1:c.693A>C, XM_011509248.3:c.792A>C, XM_011509248.2:c.792A>C, XM_011509248.1:c.792A>C, XM_011509247.2:c.837A>C, XM_011509247.1:c.837A>C, NM_001195215.2:c.753A>C, NM_001195215.1:c.753A>C, XM_024453626.2:c.150A>C, XM_024453626.1:c.150A>C, NR_125340.2:n.1018A>C, NR_125340.1:n.1031A>C, NM_001300858.2:c.663A>C, NM_001300858.1:c.663A>C, XM_047447711.1:c.150A>C, XM_047447700.1:c.663A>C, XM_047447715.1:c.-54A>C, XM_047447730.1:c.753A>C, XM_047447731.1:c.693A>C, XM_047447726.1:c.837A>C, NM_001142795.1:c.693A>C

Select item 146712207818.

rs1467122078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:197546761 (GRCh38)
1:197515891 (GRCh37)
Canonical SPDI:: NC_000001.11:197546760:G:A
Gene:: DENND1B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.197546761G>A, NC_000001.10:g.197515891G>A, XM_006711194.4:c.335C>T, XM_006711194.3:c.335C>T, XM_006711194.2:c.335C>T, XM_006711194.1:c.335C>T, XM_011509246.3:c.1397C>T, XM_011509246.2:c.1397C>T, XM_011509246.1:c.1397C>T, XM_011509249.3:c.1223C>T, XM_011509249.2:c.1223C>T, XM_011509249.1:c.1223C>T, XM_005244931.3:c.1193C>T, XM_005244931.2:c.1193C>T, XM_005244931.1:c.1193C>T, XM_011509248.3:c.1292C>T, XM_011509248.2:c.1292C>T, XM_011509248.1:c.1292C>T, XM_011509247.2:c.1337C>T, XM_011509247.1:c.1337C>T, NM_001195215.2:c.1253C>T, NM_001195215.1:c.1253C>T, XM_024453626.2:c.650C>T, XM_024453626.1:c.650C>T, NR_125340.2:n.1325C>T, NR_125340.1:n.1338C>T, XM_047447711.1:c.650C>T, XM_047447700.1:c.1163C>T, XM_047447715.1:c.401C>T, NM_001142795.1:c.1193C>T, NM_019049.1:c.-56C>T, XP_006711257.1:p.Ser112Leu, XP_011507548.1:p.Ser466Leu, XP_011507551.1:p.Ser408Leu, XP_005244988.1:p.Ser398Leu, XP_011507550.1:p.Ser431Leu, XP_011507549.1:p.Ser446Leu, NP_001182144.1:p.Ser418Leu, XP_024309394.1:p.Ser217Leu, XP_047303667.1:p.Ser217Leu, XP_047303656.1:p.Ser388Leu, XP_047303671.1:p.Ser134Leu

Select item 146661787719.

rs1466617877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:197611962 (GRCh38)
1:197581092 (GRCh37)
Canonical SPDI:: NC_000001.11:197611961:T:C
Gene:: DENND1B (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.197611962T>C, NC_000001.10:g.197581092T>C, NM_144977.5:c.788A>G, NM_144977.4:c.788A>G, XM_011509251.4:c.932A>G, XM_011509251.3:c.932A>G, XM_011509251.2:c.932A>G, XM_011509251.1:c.932A>G, XM_011509246.3:c.932A>G, XM_011509246.2:c.932A>G, XM_011509246.1:c.932A>G, XM_011509249.3:c.758A>G, XM_011509249.2:c.758A>G, XM_011509249.1:c.758A>G, XM_005244931.3:c.728A>G, XM_005244931.2:c.728A>G, XM_005244931.1:c.728A>G, XM_011509248.3:c.827A>G, XM_011509248.2:c.827A>G, XM_011509248.1:c.827A>G, XM_011509247.2:c.872A>G, XM_011509247.1:c.872A>G, NM_001195215.2:c.788A>G, NM_001195215.1:c.788A>G, XM_024453626.2:c.185A>G, XM_024453626.1:c.185A>G, NR_125340.2:n.1053A>G, NR_125340.1:n.1066A>G, NM_001300858.2:c.698A>G, NM_001300858.1:c.698A>G, XM_047447711.1:c.185A>G, XM_047447700.1:c.698A>G, XM_047447730.1:c.788A>G, XM_047447731.1:c.728A>G, XM_047447726.1:c.872A>G, NM_001142795.1:c.728A>G, NP_659414.2:p.Tyr263Cys, XP_011507553.1:p.Tyr311Cys, XP_011507548.1:p.Tyr311Cys, XP_011507551.1:p.Tyr253Cys, XP_005244988.1:p.Tyr243Cys, XP_011507550.1:p.Tyr276Cys, XP_011507549.1:p.Tyr291Cys, NP_001182144.1:p.Tyr263Cys, XP_024309394.1:p.Tyr62Cys, NP_001287787.1:p.Tyr233Cys, XP_047303667.1:p.Tyr62Cys, XP_047303656.1:p.Tyr233Cys, XP_047303686.1:p.Tyr263Cys, XP_047303687.1:p.Tyr243Cys, XP_047303682.1:p.Tyr291Cys

Select item 146532763220.

rs1465327632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:197512931 (GRCh38)
1:197482061 (GRCh37)
Canonical SPDI:: NC_000001.11:197512930:T:C
Gene:: DENND1B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.197512931T>C, NC_000001.10:g.197482061T>C, XM_006711194.4:c.620A>G, XM_006711194.3:c.620A>G, XM_006711194.2:c.620A>G, XM_006711194.1:c.620A>G, XM_011509246.3:c.1682A>G, XM_011509246.2:c.1682A>G, XM_011509246.1:c.1682A>G, XM_011509249.3:c.1508A>G, XM_011509249.2:c.1508A>G, XM_011509249.1:c.1508A>G, XM_005244931.3:c.1478A>G, XM_005244931.2:c.1478A>G, XM_005244931.1:c.1478A>G, XM_011509248.3:c.1577A>G, XM_011509248.2:c.1577A>G, XM_011509248.1:c.1577A>G, XM_011509247.2:c.1622A>G, XM_011509247.1:c.1622A>G, NM_001195215.2:c.1538A>G, NM_001195215.1:c.1538A>G, XM_024453626.2:c.935A>G, XM_024453626.1:c.935A>G, NR_125340.2:n.1610A>G, NR_125340.1:n.1623A>G, XM_047447711.1:c.935A>G, XM_047447700.1:c.1448A>G, XM_047447715.1:c.686A>G, NM_001142795.1:c.1478A>G, NM_019049.1:c.230A>G, XP_006711257.1:p.Lys207Arg, XP_011507548.1:p.Lys561Arg, XP_011507551.1:p.Lys503Arg, XP_005244988.1:p.Lys493Arg, XP_011507550.1:p.Lys526Arg, XP_011507549.1:p.Lys541Arg, NP_001182144.1:p.Lys513Arg, XP_024309394.1:p.Lys312Arg, XP_047303667.1:p.Lys312Arg, XP_047303656.1:p.Lys483Arg, XP_047303671.1:p.Lys229Arg

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