SNP Links for Protein (Select 767984863) - SNP

Select item 14900272061.

rs1490027206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65392293 (GRCh38)
15:65684631 (GRCh37)
Canonical SPDI:: NC_000015.10:65392292:G:A
Gene:: IGDCC4 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.65392293G>A, NC_000015.9:g.65684631G>A, XM_011521845.4:c.2002C>T, XM_011521845.3:c.2002C>T, XM_011521845.2:c.2002C>T, XM_011521845.1:c.2002C>T, XM_011521846.4:c.1963C>T, XM_011521846.3:c.1963C>T, XM_011521846.2:c.1963C>T, XM_011521846.1:c.1963C>T, XM_017022448.3:c.2002C>T, XM_017022448.2:c.2002C>T, XM_017022448.1:c.2002C>T, NM_020962.3:c.1963C>T, NM_020962.2:c.1963C>T, NM_020962.1:c.1963C>T, XM_017022449.2:c.*113C>T, XM_017022449.1:c.*113C>T, XM_047432907.1:c.2170C>T, XM_047432908.1:c.2131C>T, XP_011520147.1:p.Pro668Ser, XP_011520148.1:p.Pro655Ser, XP_016877937.1:p.Pro668Ser, NP_066013.1:p.Pro655Ser, XP_047288863.1:p.Pro724Ser, XP_047288864.1:p.Pro711Ser

Select item 14892287292.

rs1489228729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:65410209 (GRCh38)
15:65702547 (GRCh37)
Canonical SPDI:: NC_000015.10:65410208:T:C
Gene:: IGDCC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.65410209T>C, NC_000015.9:g.65702547T>C, XM_011521845.4:c.571A>G, XM_011521845.3:c.571A>G, XM_011521845.2:c.571A>G, XM_011521845.1:c.571A>G, XM_011521846.4:c.532A>G, XM_011521846.3:c.532A>G, XM_011521846.2:c.532A>G, XM_011521846.1:c.532A>G, XM_017022448.3:c.571A>G, XM_017022448.2:c.571A>G, XM_017022448.1:c.571A>G, NM_020962.3:c.532A>G, NM_020962.2:c.532A>G, NM_020962.1:c.532A>G, XM_017022449.2:c.571A>G, XM_017022449.1:c.571A>G, XM_047432907.1:c.571A>G, XM_047432908.1:c.532A>G, XP_011520147.1:p.Lys191Glu, XP_011520148.1:p.Lys178Glu, XP_016877937.1:p.Lys191Glu, NP_066013.1:p.Lys178Glu, XP_016877938.1:p.Lys191Glu, XP_047288863.1:p.Lys191Glu, XP_047288864.1:p.Lys178Glu

Select item 14889545413.

rs1488954541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:65396109 (GRCh38)
15:65688447 (GRCh37)
Canonical SPDI:: NC_000015.10:65396108:G:C
Gene:: IGDCC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000108/2 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000019/1 (GnomAD_exomes)
C=0.000036/5 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.65396109G>C, NC_000015.9:g.65688447G>C, XM_011521845.4:c.1091C>G, XM_011521845.3:c.1091C>G, XM_011521845.2:c.1091C>G, XM_011521845.1:c.1091C>G, XM_011521846.4:c.1052C>G, XM_011521846.3:c.1052C>G, XM_011521846.2:c.1052C>G, XM_011521846.1:c.1052C>G, XM_017022448.3:c.1091C>G, XM_017022448.2:c.1091C>G, XM_017022448.1:c.1091C>G, NM_020962.3:c.1052C>G, NM_020962.2:c.1052C>G, NM_020962.1:c.1052C>G, XM_017022449.2:c.1091C>G, XM_017022449.1:c.1091C>G, XM_047432907.1:c.1259C>G, XM_047432908.1:c.1220C>G, XP_011520147.1:p.Thr364Arg, XP_011520148.1:p.Thr351Arg, XP_016877937.1:p.Thr364Arg, NP_066013.1:p.Thr351Arg, XP_016877938.1:p.Thr364Arg, XP_047288863.1:p.Thr420Arg, XP_047288864.1:p.Thr407Arg

Select item 14886928994.

rs1488692899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 15:65411024 (GRCh38)
15:65703362 (GRCh37)
Canonical SPDI:: NC_000015.10:65411023:A:C,NC_000015.10:65411023:A:T
Gene:: IGDCC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.65411024A>C, NC_000015.10:g.65411024A>T, NC_000015.9:g.65703362A>C, NC_000015.9:g.65703362A>T, XM_011521845.4:c.456T>G, XM_011521845.4:c.456T>A, XM_011521845.3:c.456T>G, XM_011521845.3:c.456T>A, XM_011521845.2:c.456T>G, XM_011521845.2:c.456T>A, XM_011521845.1:c.456T>G, XM_011521845.1:c.456T>A, XM_011521846.4:c.417T>G, XM_011521846.4:c.417T>A, XM_011521846.3:c.417T>G, XM_011521846.3:c.417T>A, XM_011521846.2:c.417T>G, XM_011521846.2:c.417T>A, XM_011521846.1:c.417T>G, XM_011521846.1:c.417T>A, XM_017022448.3:c.456T>G, XM_017022448.3:c.456T>A, XM_017022448.2:c.456T>G, XM_017022448.2:c.456T>A, XM_017022448.1:c.456T>G, XM_017022448.1:c.456T>A, NM_020962.3:c.417T>G, NM_020962.3:c.417T>A, NM_020962.2:c.417T>G, NM_020962.2:c.417T>A, NM_020962.1:c.417T>G, NM_020962.1:c.417T>A, XM_017022449.2:c.456T>G, XM_017022449.2:c.456T>A, XM_017022449.1:c.456T>G, XM_017022449.1:c.456T>A, XM_047432907.1:c.456T>G, XM_047432907.1:c.456T>A, XM_047432908.1:c.417T>G, XM_047432908.1:c.417T>A

Select item 14884196055.

rs1488419605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:65396065 (GRCh38)
15:65688403 (GRCh37)
Canonical SPDI:: NC_000015.10:65396064:G:C
Gene:: IGDCC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.65396065G>C, NC_000015.9:g.65688403G>C, XM_011521845.4:c.1135C>G, XM_011521845.3:c.1135C>G, XM_011521845.2:c.1135C>G, XM_011521845.1:c.1135C>G, XM_011521846.4:c.1096C>G, XM_011521846.3:c.1096C>G, XM_011521846.2:c.1096C>G, XM_011521846.1:c.1096C>G, XM_017022448.3:c.1135C>G, XM_017022448.2:c.1135C>G, XM_017022448.1:c.1135C>G, NM_020962.3:c.1096C>G, NM_020962.2:c.1096C>G, NM_020962.1:c.1096C>G, XM_017022449.2:c.1135C>G, XM_017022449.1:c.1135C>G, XM_047432907.1:c.1303C>G, XM_047432908.1:c.1264C>G, XP_011520147.1:p.Leu379Val, XP_011520148.1:p.Leu366Val, XP_016877937.1:p.Leu379Val, NP_066013.1:p.Leu366Val, XP_016877938.1:p.Leu379Val, XP_047288863.1:p.Leu435Val, XP_047288864.1:p.Leu422Val

Select item 14880057166.

rs1488005716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:65396891 (GRCh38)
15:65689229 (GRCh37)
Canonical SPDI:: NC_000015.10:65396890:C:A
Gene:: IGDCC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000015.10:g.65396891C>A, NC_000015.9:g.65689229C>A, XM_011521845.4:c.979G>T, XM_011521845.3:c.979G>T, XM_011521845.2:c.979G>T, XM_011521845.1:c.979G>T, XM_011521846.4:c.940G>T, XM_011521846.3:c.940G>T, XM_011521846.2:c.940G>T, XM_011521846.1:c.940G>T, XM_017022448.3:c.979G>T, XM_017022448.2:c.979G>T, XM_017022448.1:c.979G>T, NM_020962.3:c.940G>T, NM_020962.2:c.940G>T, NM_020962.1:c.940G>T, XM_017022449.2:c.979G>T, XM_017022449.1:c.979G>T, XM_047432907.1:c.1147G>T, XM_047432908.1:c.1108G>T, XP_011520147.1:p.Ala327Ser, XP_011520148.1:p.Ala314Ser, XP_016877937.1:p.Ala327Ser, NP_066013.1:p.Ala314Ser, XP_016877938.1:p.Ala327Ser, XP_047288863.1:p.Ala383Ser, XP_047288864.1:p.Ala370Ser

Select item 14879765497.

rs1487976549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65395775 (GRCh38)
15:65688113 (GRCh37)
Canonical SPDI:: NC_000015.10:65395774:G:A
Gene:: IGDCC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.0049/9 (Korea1K)
HGVS:: NC_000015.10:g.65395775G>A, NC_000015.9:g.65688113G>A, XM_011521845.4:c.1425C>T, XM_011521845.3:c.1425C>T, XM_011521845.2:c.1425C>T, XM_011521845.1:c.1425C>T, XM_011521846.4:c.1386C>T, XM_011521846.3:c.1386C>T, XM_011521846.2:c.1386C>T, XM_011521846.1:c.1386C>T, XM_017022448.3:c.1425C>T, XM_017022448.2:c.1425C>T, XM_017022448.1:c.1425C>T, NM_020962.3:c.1386C>T, NM_020962.2:c.1386C>T, NM_020962.1:c.1386C>T, XM_017022449.2:c.1425C>T, XM_017022449.1:c.1425C>T, XM_047432907.1:c.1593C>T, XM_047432908.1:c.1554C>T

Select item 14875822358.

rs1487582235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:65395841 (GRCh38)
15:65688179 (GRCh37)
Canonical SPDI:: NC_000015.10:65395840:C:A
Gene:: IGDCC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000015.10:g.65395841C>A, NC_000015.9:g.65688179C>A, XM_011521845.4:c.1359G>T, XM_011521845.3:c.1359G>T, XM_011521845.2:c.1359G>T, XM_011521845.1:c.1359G>T, XM_011521846.4:c.1320G>T, XM_011521846.3:c.1320G>T, XM_011521846.2:c.1320G>T, XM_011521846.1:c.1320G>T, XM_017022448.3:c.1359G>T, XM_017022448.2:c.1359G>T, XM_017022448.1:c.1359G>T, NM_020962.3:c.1320G>T, NM_020962.2:c.1320G>T, NM_020962.1:c.1320G>T, XM_017022449.2:c.1359G>T, XM_017022449.1:c.1359G>T, XM_047432907.1:c.1527G>T, XM_047432908.1:c.1488G>T

Select item 14859601329.

rs1485960132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:65384233 (GRCh38)
15:65676571 (GRCh37)
Canonical SPDI:: NC_000015.10:65384232:C:G,NC_000015.10:65384232:C:T
Gene:: IGDCC4 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.65384233C>G, NC_000015.10:g.65384233C>T, NC_000015.9:g.65676571C>G, NC_000015.9:g.65676571C>T, XM_011521845.4:c.3568G>C, XM_011521845.4:c.3568G>A, XM_011521845.3:c.3568G>C, XM_011521845.3:c.3568G>A, XM_011521845.2:c.3568G>C, XM_011521845.2:c.3568G>A, XM_011521845.1:c.3568G>C, XM_011521845.1:c.3568G>A, XM_011521846.4:c.3532G>C, XM_011521846.4:c.3532G>A, XM_011521846.3:c.3532G>C, XM_011521846.3:c.3532G>A, XM_011521846.2:c.3532G>C, XM_011521846.2:c.3532G>A, XM_011521846.1:c.3532G>C, XM_011521846.1:c.3532G>A, XM_017022448.3:c.3571G>C, XM_017022448.3:c.3571G>A, XM_017022448.2:c.3571G>C, XM_017022448.2:c.3571G>A, XM_017022448.1:c.3571G>C, XM_017022448.1:c.3571G>A, NM_020962.3:c.3529G>C, NM_020962.3:c.3529G>A, NM_020962.2:c.3529G>C, NM_020962.2:c.3529G>A, NM_020962.1:c.3529G>C, NM_020962.1:c.3529G>A, XM_047432907.1:c.3736G>C, XM_047432907.1:c.3736G>A, XM_047432908.1:c.3697G>C, XM_047432908.1:c.3697G>A, XP_011520147.1:p.Ala1190Pro, XP_011520147.1:p.Ala1190Thr, XP_011520148.1:p.Ala1178Pro, XP_011520148.1:p.Ala1178Thr, XP_016877937.1:p.Ala1191Pro, XP_016877937.1:p.Ala1191Thr, NP_066013.1:p.Ala1177Pro, NP_066013.1:p.Ala1177Thr, XP_047288863.1:p.Ala1246Pro, XP_047288863.1:p.Ala1246Thr, XP_047288864.1:p.Ala1233Pro, XP_047288864.1:p.Ala1233Thr

Select item 148491761910.

rs1484917619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:65396142 (GRCh38)
15:65688480 (GRCh37)
Canonical SPDI:: NC_000015.10:65396141:G:A,NC_000015.10:65396141:G:T
Gene:: IGDCC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.65396142G>A, NC_000015.10:g.65396142G>T, NC_000015.9:g.65688480G>A, NC_000015.9:g.65688480G>T, XM_011521845.4:c.1058C>T, XM_011521845.4:c.1058C>A, XM_011521845.3:c.1058C>T, XM_011521845.3:c.1058C>A, XM_011521845.2:c.1058C>T, XM_011521845.2:c.1058C>A, XM_011521845.1:c.1058C>T, XM_011521845.1:c.1058C>A, XM_011521846.4:c.1019C>T, XM_011521846.4:c.1019C>A, XM_011521846.3:c.1019C>T, XM_011521846.3:c.1019C>A, XM_011521846.2:c.1019C>T, XM_011521846.2:c.1019C>A, XM_011521846.1:c.1019C>T, XM_011521846.1:c.1019C>A, XM_017022448.3:c.1058C>T, XM_017022448.3:c.1058C>A, XM_017022448.2:c.1058C>T, XM_017022448.2:c.1058C>A, XM_017022448.1:c.1058C>T, XM_017022448.1:c.1058C>A, NM_020962.3:c.1019C>T, NM_020962.3:c.1019C>A, NM_020962.2:c.1019C>T, NM_020962.2:c.1019C>A, NM_020962.1:c.1019C>T, NM_020962.1:c.1019C>A, XM_017022449.2:c.1058C>T, XM_017022449.2:c.1058C>A, XM_017022449.1:c.1058C>T, XM_017022449.1:c.1058C>A, XM_047432907.1:c.1226C>T, XM_047432907.1:c.1226C>A, XM_047432908.1:c.1187C>T, XM_047432908.1:c.1187C>A, XP_011520147.1:p.Ala353Val, XP_011520147.1:p.Ala353Glu, XP_011520148.1:p.Ala340Val, XP_011520148.1:p.Ala340Glu, XP_016877937.1:p.Ala353Val, XP_016877937.1:p.Ala353Glu, NP_066013.1:p.Ala340Val, NP_066013.1:p.Ala340Glu, XP_016877938.1:p.Ala353Val, XP_016877938.1:p.Ala353Glu, XP_047288863.1:p.Ala409Val, XP_047288863.1:p.Ala409Glu, XP_047288864.1:p.Ala396Val, XP_047288864.1:p.Ala396Glu

Select item 148425709211.

rs1484257092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65395149 (GRCh38)
15:65687487 (GRCh37)
Canonical SPDI:: NC_000015.10:65395148:G:A
Gene:: IGDCC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.65395149G>A, NC_000015.9:g.65687487G>A, XM_011521845.4:c.1560C>T, XM_011521845.3:c.1560C>T, XM_011521845.2:c.1560C>T, XM_011521845.1:c.1560C>T, XM_011521846.4:c.1521C>T, XM_011521846.3:c.1521C>T, XM_011521846.2:c.1521C>T, XM_011521846.1:c.1521C>T, XM_017022448.3:c.1560C>T, XM_017022448.2:c.1560C>T, XM_017022448.1:c.1560C>T, NM_020962.3:c.1521C>T, NM_020962.2:c.1521C>T, NM_020962.1:c.1521C>T, XM_017022449.2:c.1560C>T, XM_017022449.1:c.1560C>T, XM_047432907.1:c.1728C>T, XM_047432908.1:c.1689C>T

Select item 148188806312.

rs1481888063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65395903 (GRCh38)
15:65688241 (GRCh37)
Canonical SPDI:: NC_000015.10:65395902:G:A
Gene:: IGDCC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65395903G>A, NC_000015.9:g.65688241G>A, XM_011521845.4:c.1297C>T, XM_011521845.3:c.1297C>T, XM_011521845.2:c.1297C>T, XM_011521845.1:c.1297C>T, XM_011521846.4:c.1258C>T, XM_011521846.3:c.1258C>T, XM_011521846.2:c.1258C>T, XM_011521846.1:c.1258C>T, XM_017022448.3:c.1297C>T, XM_017022448.2:c.1297C>T, XM_017022448.1:c.1297C>T, NM_020962.3:c.1258C>T, NM_020962.2:c.1258C>T, NM_020962.1:c.1258C>T, XM_017022449.2:c.1297C>T, XM_017022449.1:c.1297C>T, XM_047432907.1:c.1465C>T, XM_047432908.1:c.1426C>T

Select item 148158502913.

rs1481585029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65384396 (GRCh38)
15:65676734 (GRCh37)
Canonical SPDI:: NC_000015.10:65384395:G:A
Gene:: IGDCC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65384396G>A, NC_000015.9:g.65676734G>A, XM_011521845.4:c.3405C>T, XM_011521845.3:c.3405C>T, XM_011521845.2:c.3405C>T, XM_011521845.1:c.3405C>T, XM_011521846.4:c.3369C>T, XM_011521846.3:c.3369C>T, XM_011521846.2:c.3369C>T, XM_011521846.1:c.3369C>T, XM_017022448.3:c.3408C>T, XM_017022448.2:c.3408C>T, XM_017022448.1:c.3408C>T, NM_020962.3:c.3366C>T, NM_020962.2:c.3366C>T, NM_020962.1:c.3366C>T, XM_047432907.1:c.3573C>T, XM_047432908.1:c.3534C>T

Select item 148051602314.

rs1480516023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:65394536 (GRCh38)
15:65686874 (GRCh37)
Canonical SPDI:: NC_000015.10:65394535:G:A
Gene:: IGDCC4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65394536G>A, NC_000015.9:g.65686874G>A, XM_011521845.4:c.1628C>T, XM_011521845.3:c.1628C>T, XM_011521845.2:c.1628C>T, XM_011521845.1:c.1628C>T, XM_011521846.4:c.1589C>T, XM_011521846.3:c.1589C>T, XM_011521846.2:c.1589C>T, XM_011521846.1:c.1589C>T, XM_017022448.3:c.1628C>T, XM_017022448.2:c.1628C>T, XM_017022448.1:c.1628C>T, NM_020962.3:c.1589C>T, NM_020962.2:c.1589C>T, NM_020962.1:c.1589C>T, XM_017022449.2:c.1628C>T, XM_017022449.1:c.1628C>T, XM_047432907.1:c.1796C>T, XM_047432908.1:c.1757C>T, XP_011520147.1:p.Ala543Val, XP_011520148.1:p.Ala530Val, XP_016877937.1:p.Ala543Val, NP_066013.1:p.Ala530Val, XP_016877938.1:p.Ala543Val, XP_047288863.1:p.Ala599Val, XP_047288864.1:p.Ala586Val

Select item 148000416015.

rs1480004160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:65410291 (GRCh38)
15:65702629 (GRCh37)
Canonical SPDI:: NC_000015.10:65410290:C:T
Gene:: IGDCC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65410291C>T, NC_000015.9:g.65702629C>T, XM_011521845.4:c.489G>A, XM_011521845.3:c.489G>A, XM_011521845.2:c.489G>A, XM_011521845.1:c.489G>A, XM_011521846.4:c.450G>A, XM_011521846.3:c.450G>A, XM_011521846.2:c.450G>A, XM_011521846.1:c.450G>A, XM_017022448.3:c.489G>A, XM_017022448.2:c.489G>A, XM_017022448.1:c.489G>A, NM_020962.3:c.450G>A, NM_020962.2:c.450G>A, NM_020962.1:c.450G>A, XM_017022449.2:c.489G>A, XM_017022449.1:c.489G>A, XM_047432907.1:c.489G>A, XM_047432908.1:c.450G>A

Select item 147953725616.

rs1479537256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:65393455 (GRCh38)
15:65685793 (GRCh37)
Canonical SPDI:: NC_000015.10:65393454:A:G
Gene:: IGDCC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.65393455A>G, NC_000015.9:g.65685793A>G, XM_011521845.4:c.1830T>C, XM_011521845.3:c.1830T>C, XM_011521845.2:c.1830T>C, XM_011521845.1:c.1830T>C, XM_011521846.4:c.1791T>C, XM_011521846.3:c.1791T>C, XM_011521846.2:c.1791T>C, XM_011521846.1:c.1791T>C, XM_017022448.3:c.1830T>C, XM_017022448.2:c.1830T>C, XM_017022448.1:c.1830T>C, NM_020962.3:c.1791T>C, NM_020962.2:c.1791T>C, NM_020962.1:c.1791T>C, XM_017022449.2:c.1830T>C, XM_017022449.1:c.1830T>C, XM_047432907.1:c.1998T>C, XM_047432908.1:c.1959T>C

Select item 147875291117.

rs1478752911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:65400868 (GRCh38)
15:65693206 (GRCh37)
Canonical SPDI:: NC_000015.10:65400867:C:A,NC_000015.10:65400867:C:T
Gene:: IGDCC4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65400868C>A, NC_000015.10:g.65400868C>T, NC_000015.9:g.65693206C>A, NC_000015.9:g.65693206C>T, XM_011521845.4:c.818G>T, XM_011521845.4:c.818G>A, XM_011521845.3:c.818G>T, XM_011521845.3:c.818G>A, XM_011521845.2:c.818G>T, XM_011521845.2:c.818G>A, XM_011521845.1:c.818G>T, XM_011521845.1:c.818G>A, XM_011521846.4:c.779G>T, XM_011521846.4:c.779G>A, XM_011521846.3:c.779G>T, XM_011521846.3:c.779G>A, XM_011521846.2:c.779G>T, XM_011521846.2:c.779G>A, XM_011521846.1:c.779G>T, XM_011521846.1:c.779G>A, XM_017022448.3:c.818G>T, XM_017022448.3:c.818G>A, XM_017022448.2:c.818G>T, XM_017022448.2:c.818G>A, XM_017022448.1:c.818G>T, XM_017022448.1:c.818G>A, NM_020962.3:c.779G>T, NM_020962.3:c.779G>A, NM_020962.2:c.779G>T, NM_020962.2:c.779G>A, NM_020962.1:c.779G>T, NM_020962.1:c.779G>A, XM_017022449.2:c.818G>T, XM_017022449.2:c.818G>A, XM_017022449.1:c.818G>T, XM_017022449.1:c.818G>A, XM_047432907.1:c.818G>T, XM_047432907.1:c.818G>A, XM_047432908.1:c.779G>T, XM_047432908.1:c.779G>A, XP_011520147.1:p.Ser273Ile, XP_011520147.1:p.Ser273Asn, XP_011520148.1:p.Ser260Ile, XP_011520148.1:p.Ser260Asn, XP_016877937.1:p.Ser273Ile, XP_016877937.1:p.Ser273Asn, NP_066013.1:p.Ser260Ile, NP_066013.1:p.Ser260Asn, XP_016877938.1:p.Ser273Ile, XP_016877938.1:p.Ser273Asn, XP_047288863.1:p.Ser273Ile, XP_047288863.1:p.Ser273Asn, XP_047288864.1:p.Ser260Ile, XP_047288864.1:p.Ser260Asn

Select item 147852171118.

rs1478521711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:65396031 (GRCh38)
15:65688369 (GRCh37)
Canonical SPDI:: NC_000015.10:65396030:G:A,NC_000015.10:65396030:G:T
Gene:: IGDCC4 (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_000015.10:g.65396031G>A, NC_000015.10:g.65396031G>T, NC_000015.9:g.65688369G>A, NC_000015.9:g.65688369G>T, XM_011521845.4:c.1169C>T, XM_011521845.4:c.1169C>A, XM_011521845.3:c.1169C>T, XM_011521845.3:c.1169C>A, XM_011521845.2:c.1169C>T, XM_011521845.2:c.1169C>A, XM_011521845.1:c.1169C>T, XM_011521845.1:c.1169C>A, XM_011521846.4:c.1130C>T, XM_011521846.4:c.1130C>A, XM_011521846.3:c.1130C>T, XM_011521846.3:c.1130C>A, XM_011521846.2:c.1130C>T, XM_011521846.2:c.1130C>A, XM_011521846.1:c.1130C>T, XM_011521846.1:c.1130C>A, XM_017022448.3:c.1169C>T, XM_017022448.3:c.1169C>A, XM_017022448.2:c.1169C>T, XM_017022448.2:c.1169C>A, XM_017022448.1:c.1169C>T, XM_017022448.1:c.1169C>A, NM_020962.3:c.1130C>T, NM_020962.3:c.1130C>A, NM_020962.2:c.1130C>T, NM_020962.2:c.1130C>A, NM_020962.1:c.1130C>T, NM_020962.1:c.1130C>A, XM_017022449.2:c.1169C>T, XM_017022449.2:c.1169C>A, XM_017022449.1:c.1169C>T, XM_017022449.1:c.1169C>A, XM_047432907.1:c.1337C>T, XM_047432907.1:c.1337C>A, XM_047432908.1:c.1298C>T, XM_047432908.1:c.1298C>A, XP_011520147.1:p.Pro390Leu, XP_011520147.1:p.Pro390His, XP_011520148.1:p.Pro377Leu, XP_011520148.1:p.Pro377His, XP_016877937.1:p.Pro390Leu, XP_016877937.1:p.Pro390His, NP_066013.1:p.Pro377Leu, NP_066013.1:p.Pro377His, XP_016877938.1:p.Pro390Leu, XP_016877938.1:p.Pro390His, XP_047288863.1:p.Pro446Leu, XP_047288863.1:p.Pro446His, XP_047288864.1:p.Pro433Leu, XP_047288864.1:p.Pro433His

Select item 147794424919.

rs1477944249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:65384161 (GRCh38)
15:65676499 (GRCh37)
Canonical SPDI:: NC_000015.10:65384160:G:T
Gene:: IGDCC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.65384161G>T, NC_000015.9:g.65676499G>T, XM_011521845.4:c.3640C>A, XM_011521845.3:c.3640C>A, XM_011521845.2:c.3640C>A, XM_011521845.1:c.3640C>A, XM_011521846.4:c.3604C>A, XM_011521846.3:c.3604C>A, XM_011521846.2:c.3604C>A, XM_011521846.1:c.3604C>A, XM_017022448.3:c.3643C>A, XM_017022448.2:c.3643C>A, XM_017022448.1:c.3643C>A, NM_020962.3:c.3601C>A, NM_020962.2:c.3601C>A, NM_020962.1:c.3601C>A, XM_047432907.1:c.3808C>A, XM_047432908.1:c.3769C>A, XP_011520147.1:p.Pro1214Thr, XP_011520148.1:p.Pro1202Thr, XP_016877937.1:p.Pro1215Thr, NP_066013.1:p.Pro1201Thr, XP_047288863.1:p.Pro1270Thr, XP_047288864.1:p.Pro1257Thr

Select item 147777255720.

rs1477772557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:65396837 (GRCh38)
15:65689175 (GRCh37)
Canonical SPDI:: NC_000015.10:65396836:G:A,NC_000015.10:65396836:G:C
Gene:: IGDCC4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.65396837G>A, NC_000015.10:g.65396837G>C, NC_000015.9:g.65689175G>A, NC_000015.9:g.65689175G>C, XM_011521845.4:c.1033C>T, XM_011521845.4:c.1033C>G, XM_011521845.3:c.1033C>T, XM_011521845.3:c.1033C>G, XM_011521845.2:c.1033C>T, XM_011521845.2:c.1033C>G, XM_011521845.1:c.1033C>T, XM_011521845.1:c.1033C>G, XM_011521846.4:c.994C>T, XM_011521846.4:c.994C>G, XM_011521846.3:c.994C>T, XM_011521846.3:c.994C>G, XM_011521846.2:c.994C>T, XM_011521846.2:c.994C>G, XM_011521846.1:c.994C>T, XM_011521846.1:c.994C>G, XM_017022448.3:c.1033C>T, XM_017022448.3:c.1033C>G, XM_017022448.2:c.1033C>T, XM_017022448.2:c.1033C>G, XM_017022448.1:c.1033C>T, XM_017022448.1:c.1033C>G, NM_020962.3:c.994C>T, NM_020962.3:c.994C>G, NM_020962.2:c.994C>T, NM_020962.2:c.994C>G, NM_020962.1:c.994C>T, NM_020962.1:c.994C>G, XM_017022449.2:c.1033C>T, XM_017022449.2:c.1033C>G, XM_017022449.1:c.1033C>T, XM_017022449.1:c.1033C>G, XM_047432907.1:c.1201C>T, XM_047432907.1:c.1201C>G, XM_047432908.1:c.1162C>T, XM_047432908.1:c.1162C>G, XP_011520147.1:p.Leu345Val, XP_011520148.1:p.Leu332Val, XP_016877937.1:p.Leu345Val, NP_066013.1:p.Leu332Val, XP_016877938.1:p.Leu345Val, XP_047288863.1:p.Leu401Val, XP_047288864.1:p.Leu388Val

dbSNP

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Result Filters

Validation Status

Publication

Function Class

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Annotation

Global MAF

Custom range

Additional filters

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Links from Protein

Items: 1 to 20 of 1315

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