SNP Links for Protein (Select 1034601910) - SNP

Links from Protein

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Select item 14905755671.

rs1490575567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:50998505 (GRCh38)
17:49075866 (GRCh37)
Canonical SPDI:: NC_000017.11:50998504:T:G
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50998505T>G, NC_000017.10:g.49075866T>G, NG_029710.1:g.127361A>C, NM_003971.6:c.1735A>C, NM_003971.5:c.1735A>C, NM_001130528.3:c.1777A>C, NM_001130528.2:c.1777A>C, NM_001130527.3:c.1747A>C, NM_001130527.2:c.1747A>C, NM_001251971.2:c.1306A>C, NM_001251971.1:c.1306A>C, XM_005257774.5:c.1306A>C, XM_005257774.4:c.1306A>C, XM_005257774.3:c.1306A>C, XM_005257774.2:c.1306A>C, XM_005257774.1:c.1306A>C, XM_005257771.4:c.1735A>C, XM_005257771.3:c.1735A>C, XM_005257771.2:c.1735A>C, XM_005257771.1:c.1735A>C, XM_005257768.3:c.1777A>C, XM_005257768.2:c.1777A>C, XM_005257768.1:c.1777A>C, XM_017025283.3:c.1348A>C, XM_017025283.2:c.1348A>C, XM_017025283.1:c.1348A>C, XM_017025284.3:c.1348A>C, XM_017025284.2:c.1348A>C, XM_017025284.1:c.1348A>C, XM_017025285.3:c.1282A>C, XM_017025285.2:c.1282A>C, XM_017025285.1:c.1282A>C, NM_172345.1:c.685A>C, NP_003962.3:p.Ser579Arg, NP_001124000.1:p.Ser593Arg, NP_001123999.1:p.Ser583Arg, NP_001238900.1:p.Ser436Arg, XP_005257831.1:p.Ser436Arg, XP_005257828.1:p.Ser579Arg, XP_005257825.1:p.Ser593Arg, XP_016880772.1:p.Ser450Arg, XP_016880773.1:p.Ser450Arg, XP_016880774.1:p.Ser428Arg

Select item 14902006092.

rs1490200609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50979823 (GRCh38)
17:49057184 (GRCh37)
Canonical SPDI:: NC_000017.11:50979822:G:A
Gene:: SPAG9 (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)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50979823G>A, NC_000017.10:g.49057184G>A, NG_029710.1:g.146043C>T, NM_003971.6:c.3290C>T, NM_003971.5:c.3290C>T, NM_001130528.3:c.3332C>T, NM_001130528.2:c.3332C>T, NM_001130527.3:c.3302C>T, NM_001130527.2:c.3302C>T, NM_001251971.2:c.2861C>T, NM_001251971.1:c.2861C>T, XM_005257774.5:c.2861C>T, XM_005257774.4:c.2861C>T, XM_005257774.3:c.2861C>T, XM_005257774.2:c.2861C>T, XM_005257774.1:c.2861C>T, XM_005257771.4:c.3290C>T, XM_005257771.3:c.3290C>T, XM_005257771.2:c.3290C>T, XM_005257771.1:c.3290C>T, XM_005257768.3:c.3332C>T, XM_005257768.2:c.3332C>T, XM_005257768.1:c.3332C>T, XM_017025283.3:c.2903C>T, XM_017025283.2:c.2903C>T, XM_017025283.1:c.2903C>T, XM_017025284.3:c.2903C>T, XM_017025284.2:c.2903C>T, XM_017025284.1:c.2903C>T, XM_017025285.3:c.2837C>T, XM_017025285.2:c.2837C>T, XM_017025285.1:c.2837C>T, NP_003962.3:p.Thr1097Met, NP_001124000.1:p.Thr1111Met, NP_001123999.1:p.Thr1101Met, NP_001238900.1:p.Thr954Met, XP_005257831.1:p.Thr954Met, XP_005257828.1:p.Thr1097Met, XP_005257825.1:p.Thr1111Met, XP_016880772.1:p.Thr968Met, XP_016880773.1:p.Thr968Met, XP_016880774.1:p.Thr946Met

Select item 14899562173.

rs1489956217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50974839 (GRCh38)
17:49052200 (GRCh37)
Canonical SPDI:: NC_000017.11:50974838:G:A
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.50974839G>A, NC_000017.10:g.49052200G>A, NG_029710.1:g.151027C>T, NM_003971.6:c.3590C>T, NM_003971.5:c.3590C>T, NM_001130528.3:c.3632C>T, NM_001130528.2:c.3632C>T, NM_001130527.3:c.3602C>T, NM_001130527.2:c.3602C>T, NM_001251971.2:c.3200C>T, NM_001251971.1:c.3200C>T, XM_005257774.5:c.3161C>T, XM_005257774.4:c.3161C>T, XM_005257774.3:c.3161C>T, XM_005257774.2:c.3161C>T, XM_005257774.1:c.3161C>T, XM_005257771.4:c.3629C>T, XM_005257771.3:c.3629C>T, XM_005257771.2:c.3629C>T, XM_005257771.1:c.3629C>T, XM_005257768.3:c.3671C>T, XM_005257768.2:c.3671C>T, XM_005257768.1:c.3671C>T, XM_017025283.3:c.3242C>T, XM_017025283.2:c.3242C>T, XM_017025283.1:c.3242C>T, XM_017025284.3:c.3203C>T, XM_017025284.2:c.3203C>T, XM_017025284.1:c.3203C>T, XM_017025285.3:c.3176C>T, XM_017025285.2:c.3176C>T, XM_017025285.1:c.3176C>T, NP_003962.3:p.Ser1197Leu, NP_001124000.1:p.Ser1211Leu, NP_001123999.1:p.Ser1201Leu, NP_001238900.1:p.Ser1067Leu, XP_005257831.1:p.Ser1054Leu, XP_005257828.1:p.Ser1210Leu, XP_005257825.1:p.Ser1224Leu, XP_016880772.1:p.Ser1081Leu, XP_016880773.1:p.Ser1068Leu, XP_016880774.1:p.Ser1059Leu

Select item 14898578224.

rs1489857822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50998498 (GRCh38)
17:49075859 (GRCh37)
Canonical SPDI:: NC_000017.11:50998497:G:A
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50998498G>A, NC_000017.10:g.49075859G>A, NG_029710.1:g.127368C>T, NM_003971.6:c.1742C>T, NM_003971.5:c.1742C>T, NM_001130528.3:c.1784C>T, NM_001130528.2:c.1784C>T, NM_001130527.3:c.1754C>T, NM_001130527.2:c.1754C>T, NM_001251971.2:c.1313C>T, NM_001251971.1:c.1313C>T, XM_005257774.5:c.1313C>T, XM_005257774.4:c.1313C>T, XM_005257774.3:c.1313C>T, XM_005257774.2:c.1313C>T, XM_005257774.1:c.1313C>T, XM_005257771.4:c.1742C>T, XM_005257771.3:c.1742C>T, XM_005257771.2:c.1742C>T, XM_005257771.1:c.1742C>T, XM_005257768.3:c.1784C>T, XM_005257768.2:c.1784C>T, XM_005257768.1:c.1784C>T, XM_017025283.3:c.1355C>T, XM_017025283.2:c.1355C>T, XM_017025283.1:c.1355C>T, XM_017025284.3:c.1355C>T, XM_017025284.2:c.1355C>T, XM_017025284.1:c.1355C>T, XM_017025285.3:c.1289C>T, XM_017025285.2:c.1289C>T, XM_017025285.1:c.1289C>T, NM_172345.1:c.692C>T, NP_003962.3:p.Thr581Ile, NP_001124000.1:p.Thr595Ile, NP_001123999.1:p.Thr585Ile, NP_001238900.1:p.Thr438Ile, XP_005257831.1:p.Thr438Ile, XP_005257828.1:p.Thr581Ile, XP_005257825.1:p.Thr595Ile, XP_016880772.1:p.Thr452Ile, XP_016880773.1:p.Thr452Ile, XP_016880774.1:p.Thr430Ile

Select item 14894191245.

rs1489419124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:50990653 (GRCh38)
17:49068014 (GRCh37)
Canonical SPDI:: NC_000017.11:50990652:T:C,NC_000017.11:50990652:T:G
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.50990653T>C, NC_000017.11:g.50990653T>G, NC_000017.10:g.49068014T>C, NC_000017.10:g.49068014T>G, NG_029710.1:g.135213A>G, NG_029710.1:g.135213A>C, NM_003971.6:c.2372A>G, NM_003971.6:c.2372A>C, NM_003971.5:c.2372A>G, NM_003971.5:c.2372A>C, NM_001130528.3:c.2414A>G, NM_001130528.3:c.2414A>C, NM_001130528.2:c.2414A>G, NM_001130528.2:c.2414A>C, NM_001130527.3:c.2384A>G, NM_001130527.3:c.2384A>C, NM_001130527.2:c.2384A>G, NM_001130527.2:c.2384A>C, NM_001251971.2:c.1943A>G, NM_001251971.2:c.1943A>C, NM_001251971.1:c.1943A>G, NM_001251971.1:c.1943A>C, XM_005257774.5:c.1943A>G, XM_005257774.5:c.1943A>C, XM_005257774.4:c.1943A>G, XM_005257774.4:c.1943A>C, XM_005257774.3:c.1943A>G, XM_005257774.3:c.1943A>C, XM_005257774.2:c.1943A>G, XM_005257774.2:c.1943A>C, XM_005257774.1:c.1943A>G, XM_005257774.1:c.1943A>C, XM_005257771.4:c.2372A>G, XM_005257771.4:c.2372A>C, XM_005257771.3:c.2372A>G, XM_005257771.3:c.2372A>C, XM_005257771.2:c.2372A>G, XM_005257771.2:c.2372A>C, XM_005257771.1:c.2372A>G, XM_005257771.1:c.2372A>C, XM_005257768.3:c.2414A>G, XM_005257768.3:c.2414A>C, XM_005257768.2:c.2414A>G, XM_005257768.2:c.2414A>C, XM_005257768.1:c.2414A>G, XM_005257768.1:c.2414A>C, XM_017025283.3:c.1985A>G, XM_017025283.3:c.1985A>C, XM_017025283.2:c.1985A>G, XM_017025283.2:c.1985A>C, XM_017025283.1:c.1985A>G, XM_017025283.1:c.1985A>C, XM_017025284.3:c.1985A>G, XM_017025284.3:c.1985A>C, XM_017025284.2:c.1985A>G, XM_017025284.2:c.1985A>C, XM_017025284.1:c.1985A>G, XM_017025284.1:c.1985A>C, XM_017025285.3:c.1919A>G, XM_017025285.3:c.1919A>C, XM_017025285.2:c.1919A>G, XM_017025285.2:c.1919A>C, XM_017025285.1:c.1919A>G, XM_017025285.1:c.1919A>C, NM_172345.1:c.1322A>G, NM_172345.1:c.1322A>C, NP_003962.3:p.Asp791Gly, NP_003962.3:p.Asp791Ala, NP_001124000.1:p.Asp805Gly, NP_001124000.1:p.Asp805Ala, NP_001123999.1:p.Asp795Gly, NP_001123999.1:p.Asp795Ala, NP_001238900.1:p.Asp648Gly, NP_001238900.1:p.Asp648Ala, XP_005257831.1:p.Asp648Gly, XP_005257831.1:p.Asp648Ala, XP_005257828.1:p.Asp791Gly, XP_005257828.1:p.Asp791Ala, XP_005257825.1:p.Asp805Gly, XP_005257825.1:p.Asp805Ala, XP_016880772.1:p.Asp662Gly, XP_016880772.1:p.Asp662Ala, XP_016880773.1:p.Asp662Gly, XP_016880773.1:p.Asp662Ala, XP_016880774.1:p.Asp640Gly, XP_016880774.1:p.Asp640Ala

Select item 14884393406.

rs1488439340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50979914 (GRCh38)
17:49057275 (GRCh37)
Canonical SPDI:: NC_000017.11:50979913:A:G
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50979914A>G, NC_000017.10:g.49057275A>G, NG_029710.1:g.145952T>C, NM_003971.6:c.3199T>C, NM_003971.5:c.3199T>C, NM_001130528.3:c.3241T>C, NM_001130528.2:c.3241T>C, NM_001130527.3:c.3211T>C, NM_001130527.2:c.3211T>C, NM_001251971.2:c.2770T>C, NM_001251971.1:c.2770T>C, XM_005257774.5:c.2770T>C, XM_005257774.4:c.2770T>C, XM_005257774.3:c.2770T>C, XM_005257774.2:c.2770T>C, XM_005257774.1:c.2770T>C, XM_005257771.4:c.3199T>C, XM_005257771.3:c.3199T>C, XM_005257771.2:c.3199T>C, XM_005257771.1:c.3199T>C, XM_005257768.3:c.3241T>C, XM_005257768.2:c.3241T>C, XM_005257768.1:c.3241T>C, XM_017025283.3:c.2812T>C, XM_017025283.2:c.2812T>C, XM_017025283.1:c.2812T>C, XM_017025284.3:c.2812T>C, XM_017025284.2:c.2812T>C, XM_017025284.1:c.2812T>C, XM_017025285.3:c.2746T>C, XM_017025285.2:c.2746T>C, XM_017025285.1:c.2746T>C, NP_003962.3:p.Ser1067Pro, NP_001124000.1:p.Ser1081Pro, NP_001123999.1:p.Ser1071Pro, NP_001238900.1:p.Ser924Pro, XP_005257831.1:p.Ser924Pro, XP_005257828.1:p.Ser1067Pro, XP_005257825.1:p.Ser1081Pro, XP_016880772.1:p.Ser938Pro, XP_016880773.1:p.Ser938Pro, XP_016880774.1:p.Ser916Pro

Select item 14871090027.

rs1487109002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50999708 (GRCh38)
17:49077069 (GRCh37)
Canonical SPDI:: NC_000017.11:50999707:T:C
Gene:: SPAG9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50999708T>C, NC_000017.10:g.49077069T>C, NG_029710.1:g.126158A>G, NM_003971.6:c.1575A>G, NM_003971.5:c.1575A>G, NM_001130528.3:c.1617A>G, NM_001130528.2:c.1617A>G, NM_001130527.3:c.1575A>G, NM_001130527.2:c.1575A>G, NM_001251971.2:c.1146A>G, NM_001251971.1:c.1146A>G, XM_005257774.5:c.1146A>G, XM_005257774.4:c.1146A>G, XM_005257774.3:c.1146A>G, XM_005257774.2:c.1146A>G, XM_005257774.1:c.1146A>G, XM_005257771.4:c.1575A>G, XM_005257771.3:c.1575A>G, XM_005257771.2:c.1575A>G, XM_005257771.1:c.1575A>G, XM_005257768.3:c.1617A>G, XM_005257768.2:c.1617A>G, XM_005257768.1:c.1617A>G, XM_017025283.3:c.1188A>G, XM_017025283.2:c.1188A>G, XM_017025283.1:c.1188A>G, XM_017025284.3:c.1188A>G, XM_017025284.2:c.1188A>G, XM_017025284.1:c.1188A>G, XM_017025285.3:c.1122A>G, XM_017025285.2:c.1122A>G, XM_017025285.1:c.1122A>G

Select item 14843213578.

rs1484321357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50970842 (GRCh38)
17:49048203 (GRCh37)
Canonical SPDI:: NC_000017.11:50970841:G:A
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.50970842G>A, NC_000017.10:g.49048203G>A, NG_029710.1:g.155024C>T, NM_003971.6:c.3673C>T, NM_003971.5:c.3673C>T, NM_001130528.3:c.3715C>T, NM_001130528.2:c.3715C>T, NM_001130527.3:c.3685C>T, NM_001130527.2:c.3685C>T, NM_001251971.2:c.3283C>T, NM_001251971.1:c.3283C>T, XM_005257774.5:c.3244C>T, XM_005257774.4:c.3244C>T, XM_005257774.3:c.3244C>T, XM_005257774.2:c.3244C>T, XM_005257774.1:c.3244C>T, XM_005257771.4:c.3712C>T, XM_005257771.3:c.3712C>T, XM_005257771.2:c.3712C>T, XM_005257771.1:c.3712C>T, XM_005257768.3:c.3754C>T, XM_005257768.2:c.3754C>T, XM_005257768.1:c.3754C>T, XM_017025283.3:c.3325C>T, XM_017025283.2:c.3325C>T, XM_017025283.1:c.3325C>T, XM_017025284.3:c.3286C>T, XM_017025284.2:c.3286C>T, XM_017025284.1:c.3286C>T, XM_017025285.3:c.3259C>T, XM_017025285.2:c.3259C>T, XM_017025285.1:c.3259C>T, NP_003962.3:p.Pro1225Ser, NP_001124000.1:p.Pro1239Ser, NP_001123999.1:p.Pro1229Ser, NP_001238900.1:p.Pro1095Ser, XP_005257831.1:p.Pro1082Ser, XP_005257828.1:p.Pro1238Ser, XP_005257825.1:p.Pro1252Ser, XP_016880772.1:p.Pro1109Ser, XP_016880773.1:p.Pro1096Ser, XP_016880774.1:p.Pro1087Ser

Select item 14823801979.

rs1482380197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50970824 (GRCh38)
17:49048185 (GRCh37)
Canonical SPDI:: NC_000017.11:50970823:C:T
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50970824C>T, NC_000017.10:g.49048185C>T, NG_029710.1:g.155042G>A, NM_003971.6:c.3691G>A, NM_003971.5:c.3691G>A, NM_001130528.3:c.3733G>A, NM_001130528.2:c.3733G>A, NM_001130527.3:c.3703G>A, NM_001130527.2:c.3703G>A, NM_001251971.2:c.3301G>A, NM_001251971.1:c.3301G>A, XM_005257774.5:c.3262G>A, XM_005257774.4:c.3262G>A, XM_005257774.3:c.3262G>A, XM_005257774.2:c.3262G>A, XM_005257774.1:c.3262G>A, XM_005257771.4:c.3730G>A, XM_005257771.3:c.3730G>A, XM_005257771.2:c.3730G>A, XM_005257771.1:c.3730G>A, XM_005257768.3:c.3772G>A, XM_005257768.2:c.3772G>A, XM_005257768.1:c.3772G>A, XM_017025283.3:c.3343G>A, XM_017025283.2:c.3343G>A, XM_017025283.1:c.3343G>A, XM_017025284.3:c.3304G>A, XM_017025284.2:c.3304G>A, XM_017025284.1:c.3304G>A, XM_017025285.3:c.3277G>A, XM_017025285.2:c.3277G>A, XM_017025285.1:c.3277G>A, NP_003962.3:p.Gly1231Ser, NP_001124000.1:p.Gly1245Ser, NP_001123999.1:p.Gly1235Ser, NP_001238900.1:p.Gly1101Ser, XP_005257831.1:p.Gly1088Ser, XP_005257828.1:p.Gly1244Ser, XP_005257825.1:p.Gly1258Ser, XP_016880772.1:p.Gly1115Ser, XP_016880773.1:p.Gly1102Ser, XP_016880774.1:p.Gly1093Ser

Select item 148160074610.

rs1481600746 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50995456 (GRCh38)
17:49072817 (GRCh37)
Canonical SPDI:: NC_000017.11:50995455:A:G
Gene:: SPAG9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50995456A>G, NC_000017.10:g.49072817A>G, NG_029710.1:g.130410T>C, NM_003971.6:c.2004T>C, NM_003971.5:c.2004T>C, NM_001130528.3:c.2046T>C, NM_001130528.2:c.2046T>C, NM_001130527.3:c.2016T>C, NM_001130527.2:c.2016T>C, NM_001251971.2:c.1575T>C, NM_001251971.1:c.1575T>C, XM_005257774.5:c.1575T>C, XM_005257774.4:c.1575T>C, XM_005257774.3:c.1575T>C, XM_005257774.2:c.1575T>C, XM_005257774.1:c.1575T>C, XM_005257771.4:c.2004T>C, XM_005257771.3:c.2004T>C, XM_005257771.2:c.2004T>C, XM_005257771.1:c.2004T>C, XM_005257768.3:c.2046T>C, XM_005257768.2:c.2046T>C, XM_005257768.1:c.2046T>C, XM_017025283.3:c.1617T>C, XM_017025283.2:c.1617T>C, XM_017025283.1:c.1617T>C, XM_017025284.3:c.1617T>C, XM_017025284.2:c.1617T>C, XM_017025284.1:c.1617T>C, XM_017025285.3:c.1551T>C, XM_017025285.2:c.1551T>C, XM_017025285.1:c.1551T>C, NM_172345.1:c.954T>C

Select item 148111745511.

rs1481117455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:51047401 (GRCh38)
17:49124762 (GRCh37)
Canonical SPDI:: NC_000017.11:51047400:T:C
Gene:: SPAG9 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.51047401T>C, NC_000017.10:g.49124762T>C, NG_029710.1:g.78465A>G, NM_003971.6:c.564A>G, NM_003971.5:c.564A>G, NM_001130528.3:c.564A>G, NM_001130528.2:c.564A>G, NM_001130527.3:c.564A>G, NM_001130527.2:c.564A>G, XM_005257771.4:c.564A>G, XM_005257771.3:c.564A>G, XM_005257771.2:c.564A>G, XM_005257771.1:c.564A>G, XM_005257768.3:c.564A>G, XM_005257768.2:c.564A>G, XM_005257768.1:c.564A>G, XM_017025285.3:c.69A>G, XM_017025285.2:c.69A>G, XM_017025285.1:c.69A>G

Select item 148089065212.

rs1480890652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:50993848 (GRCh38)
17:49071209 (GRCh37)
Canonical SPDI:: NC_000017.11:50993847:T:C,NC_000017.11:50993847:T:G
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50993848T>C, NC_000017.11:g.50993848T>G, NC_000017.10:g.49071209T>C, NC_000017.10:g.49071209T>G, NG_029710.1:g.132018A>G, NG_029710.1:g.132018A>C, NM_003971.6:c.2272A>G, NM_003971.6:c.2272A>C, NM_003971.5:c.2272A>G, NM_003971.5:c.2272A>C, NM_001130528.3:c.2314A>G, NM_001130528.3:c.2314A>C, NM_001130528.2:c.2314A>G, NM_001130528.2:c.2314A>C, NM_001130527.3:c.2284A>G, NM_001130527.3:c.2284A>C, NM_001130527.2:c.2284A>G, NM_001130527.2:c.2284A>C, NM_001251971.2:c.1843A>G, NM_001251971.2:c.1843A>C, NM_001251971.1:c.1843A>G, NM_001251971.1:c.1843A>C, XM_005257774.5:c.1843A>G, XM_005257774.5:c.1843A>C, XM_005257774.4:c.1843A>G, XM_005257774.4:c.1843A>C, XM_005257774.3:c.1843A>G, XM_005257774.3:c.1843A>C, XM_005257774.2:c.1843A>G, XM_005257774.2:c.1843A>C, XM_005257774.1:c.1843A>G, XM_005257774.1:c.1843A>C, XM_005257771.4:c.2272A>G, XM_005257771.4:c.2272A>C, XM_005257771.3:c.2272A>G, XM_005257771.3:c.2272A>C, XM_005257771.2:c.2272A>G, XM_005257771.2:c.2272A>C, XM_005257771.1:c.2272A>G, XM_005257771.1:c.2272A>C, XM_005257768.3:c.2314A>G, XM_005257768.3:c.2314A>C, XM_005257768.2:c.2314A>G, XM_005257768.2:c.2314A>C, XM_005257768.1:c.2314A>G, XM_005257768.1:c.2314A>C, XM_017025283.3:c.1885A>G, XM_017025283.3:c.1885A>C, XM_017025283.2:c.1885A>G, XM_017025283.2:c.1885A>C, XM_017025283.1:c.1885A>G, XM_017025283.1:c.1885A>C, XM_017025284.3:c.1885A>G, XM_017025284.3:c.1885A>C, XM_017025284.2:c.1885A>G, XM_017025284.2:c.1885A>C, XM_017025284.1:c.1885A>G, XM_017025284.1:c.1885A>C, XM_017025285.3:c.1819A>G, XM_017025285.3:c.1819A>C, XM_017025285.2:c.1819A>G, XM_017025285.2:c.1819A>C, XM_017025285.1:c.1819A>G, XM_017025285.1:c.1819A>C, NM_172345.1:c.1222A>G, NM_172345.1:c.1222A>C, NP_003962.3:p.Ile758Val, NP_003962.3:p.Ile758Leu, NP_001124000.1:p.Ile772Val, NP_001124000.1:p.Ile772Leu, NP_001123999.1:p.Ile762Val, NP_001123999.1:p.Ile762Leu, NP_001238900.1:p.Ile615Val, NP_001238900.1:p.Ile615Leu, XP_005257831.1:p.Ile615Val, XP_005257831.1:p.Ile615Leu, XP_005257828.1:p.Ile758Val, XP_005257828.1:p.Ile758Leu, XP_005257825.1:p.Ile772Val, XP_005257825.1:p.Ile772Leu, XP_016880772.1:p.Ile629Val, XP_016880772.1:p.Ile629Leu, XP_016880773.1:p.Ile629Val, XP_016880773.1:p.Ile629Leu, XP_016880774.1:p.Ile607Val, XP_016880774.1:p.Ile607Leu

Select item 148039014013.

rs1480390140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:50966342 (GRCh38)
17:49043703 (GRCh37)
Canonical SPDI:: NC_000017.11:50966341:A:T
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.50966342A>T, NC_000017.10:g.49043703A>T, NG_029710.1:g.159524T>A, NM_003971.6:c.3854T>A, NM_003971.5:c.3854T>A, NM_001130528.3:c.3896T>A, NM_001130528.2:c.3896T>A, NM_001130527.3:c.3866T>A, NM_001130527.2:c.3866T>A, NM_001251971.2:c.3464T>A, NM_001251971.1:c.3464T>A, XM_005257774.5:c.3425T>A, XM_005257774.4:c.3425T>A, XM_005257774.3:c.3425T>A, XM_005257774.2:c.3425T>A, XM_005257774.1:c.3425T>A, XM_005257771.4:c.3893T>A, XM_005257771.3:c.3893T>A, XM_005257771.2:c.3893T>A, XM_005257771.1:c.3893T>A, XM_005257768.3:c.3935T>A, XM_005257768.2:c.3935T>A, XM_005257768.1:c.3935T>A, XM_017025283.3:c.3506T>A, XM_017025283.2:c.3506T>A, XM_017025283.1:c.3506T>A, XM_017025284.3:c.3467T>A, XM_017025284.2:c.3467T>A, XM_017025284.1:c.3467T>A, XM_017025285.3:c.3440T>A, XM_017025285.2:c.3440T>A, XM_017025285.1:c.3440T>A, NP_003962.3:p.Leu1285His, NP_001124000.1:p.Leu1299His, NP_001123999.1:p.Leu1289His, NP_001238900.1:p.Leu1155His, XP_005257831.1:p.Leu1142His, XP_005257828.1:p.Leu1298His, XP_005257825.1:p.Leu1312His, XP_016880772.1:p.Leu1169His, XP_016880773.1:p.Leu1156His, XP_016880774.1:p.Leu1147His

Select item 147898279914.

rs1478982799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50974838 (GRCh38)
17:49052199 (GRCh37)
Canonical SPDI:: NC_000017.11:50974837:T:C
Gene:: SPAG9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50974838T>C, NC_000017.10:g.49052199T>C, NG_029710.1:g.151028A>G, NM_003971.6:c.3591A>G, NM_003971.5:c.3591A>G, NM_001130528.3:c.3633A>G, NM_001130528.2:c.3633A>G, NM_001130527.3:c.3603A>G, NM_001130527.2:c.3603A>G, NM_001251971.2:c.3201A>G, NM_001251971.1:c.3201A>G, XM_005257774.5:c.3162A>G, XM_005257774.4:c.3162A>G, XM_005257774.3:c.3162A>G, XM_005257774.2:c.3162A>G, XM_005257774.1:c.3162A>G, XM_005257771.4:c.3630A>G, XM_005257771.3:c.3630A>G, XM_005257771.2:c.3630A>G, XM_005257771.1:c.3630A>G, XM_005257768.3:c.3672A>G, XM_005257768.2:c.3672A>G, XM_005257768.1:c.3672A>G, XM_017025283.3:c.3243A>G, XM_017025283.2:c.3243A>G, XM_017025283.1:c.3243A>G, XM_017025284.3:c.3204A>G, XM_017025284.2:c.3204A>G, XM_017025284.1:c.3204A>G, XM_017025285.3:c.3177A>G, XM_017025285.2:c.3177A>G, XM_017025285.1:c.3177A>G

Select item 147791835915.

rs1477918359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:50977140 (GRCh38)
17:49054501 (GRCh37)
Canonical SPDI:: NC_000017.11:50977139:T:C
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50977140T>C, NC_000017.10:g.49054501T>C, NG_029710.1:g.148726A>G, NM_003971.6:c.3449A>G, NM_003971.5:c.3449A>G, NM_001130528.3:c.3491A>G, NM_001130528.2:c.3491A>G, NM_001130527.3:c.3461A>G, NM_001130527.2:c.3461A>G, NM_001251971.2:c.3020A>G, NM_001251971.1:c.3020A>G, XM_005257774.5:c.3020A>G, XM_005257774.4:c.3020A>G, XM_005257774.3:c.3020A>G, XM_005257774.2:c.3020A>G, XM_005257774.1:c.3020A>G, XM_005257771.4:c.3449A>G, XM_005257771.3:c.3449A>G, XM_005257771.2:c.3449A>G, XM_005257771.1:c.3449A>G, XM_005257768.3:c.3491A>G, XM_005257768.2:c.3491A>G, XM_005257768.1:c.3491A>G, XM_017025283.3:c.3062A>G, XM_017025283.2:c.3062A>G, XM_017025283.1:c.3062A>G, XM_017025284.3:c.3062A>G, XM_017025284.2:c.3062A>G, XM_017025284.1:c.3062A>G, XM_017025285.3:c.2996A>G, XM_017025285.2:c.2996A>G, XM_017025285.1:c.2996A>G, NP_003962.3:p.Asn1150Ser, NP_001124000.1:p.Asn1164Ser, NP_001123999.1:p.Asn1154Ser, NP_001238900.1:p.Asn1007Ser, XP_005257831.1:p.Asn1007Ser, XP_005257828.1:p.Asn1150Ser, XP_005257825.1:p.Asn1164Ser, XP_016880772.1:p.Asn1021Ser, XP_016880773.1:p.Asn1021Ser, XP_016880774.1:p.Asn999Ser

Select item 147611354316.

rs1476113543 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:50987182 (GRCh38)
17:49064543 (GRCh37)
Canonical SPDI:: NC_000017.11:50987181:A:T
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.50987182A>T, NC_000017.10:g.49064543A>T, NG_029710.1:g.138684T>A, NM_003971.6:c.2827T>A, NM_003971.5:c.2827T>A, NM_001130528.3:c.2869T>A, NM_001130528.2:c.2869T>A, NM_001130527.3:c.2839T>A, NM_001130527.2:c.2839T>A, NM_001251971.2:c.2398T>A, NM_001251971.1:c.2398T>A, XM_005257774.5:c.2398T>A, XM_005257774.4:c.2398T>A, XM_005257774.3:c.2398T>A, XM_005257774.2:c.2398T>A, XM_005257774.1:c.2398T>A, XM_005257771.4:c.2827T>A, XM_005257771.3:c.2827T>A, XM_005257771.2:c.2827T>A, XM_005257771.1:c.2827T>A, XM_005257768.3:c.2869T>A, XM_005257768.2:c.2869T>A, XM_005257768.1:c.2869T>A, XM_017025283.3:c.2440T>A, XM_017025283.2:c.2440T>A, XM_017025283.1:c.2440T>A, XM_017025284.3:c.2440T>A, XM_017025284.2:c.2440T>A, XM_017025284.1:c.2440T>A, XM_017025285.3:c.2374T>A, XM_017025285.2:c.2374T>A, XM_017025285.1:c.2374T>A, NM_172345.1:c.1777T>A, NP_003962.3:p.Leu943Met, NP_001124000.1:p.Leu957Met, NP_001123999.1:p.Leu947Met, NP_001238900.1:p.Leu800Met, XP_005257831.1:p.Leu800Met, XP_005257828.1:p.Leu943Met, XP_005257825.1:p.Leu957Met, XP_016880772.1:p.Leu814Met, XP_016880773.1:p.Leu814Met, XP_016880774.1:p.Leu792Met

Select item 147608460617.

rs1476084606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:51014272 (GRCh38)
17:49091633 (GRCh37)
Canonical SPDI:: NC_000017.11:51014271:T:C
Gene:: SPAG9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.51014272T>C, NC_000017.10:g.49091633T>C, NG_029710.1:g.111594A>G, NM_003971.6:c.1131A>G, NM_003971.5:c.1131A>G, NM_001130528.3:c.1173A>G, NM_001130528.2:c.1173A>G, NM_001130527.3:c.1131A>G, NM_001130527.2:c.1131A>G, NM_001251971.2:c.702A>G, NM_001251971.1:c.702A>G, XM_005257774.5:c.702A>G, XM_005257774.4:c.702A>G, XM_005257774.3:c.702A>G, XM_005257774.2:c.702A>G, XM_005257774.1:c.702A>G, XM_005257771.4:c.1131A>G, XM_005257771.3:c.1131A>G, XM_005257771.2:c.1131A>G, XM_005257771.1:c.1131A>G, XM_005257768.3:c.1173A>G, XM_005257768.2:c.1173A>G, XM_005257768.1:c.1173A>G, XM_017025283.3:c.744A>G, XM_017025283.2:c.744A>G, XM_017025283.1:c.744A>G, XM_017025284.3:c.744A>G, XM_017025284.2:c.744A>G, XM_017025284.1:c.744A>G, XM_017025285.3:c.678A>G, XM_017025285.2:c.678A>G, XM_017025285.1:c.678A>G

Select item 147575841318.

rs1475758413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:51021171 (GRCh38)
17:49098532 (GRCh37)
Canonical SPDI:: NC_000017.11:51021170:T:G
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.51021171T>G, NC_000017.10:g.49098532T>G, NG_029710.1:g.104695A>C, NM_003971.6:c.936A>C, NM_003971.5:c.936A>C, NM_001130528.3:c.978A>C, NM_001130528.2:c.978A>C, NM_001130527.3:c.936A>C, NM_001130527.2:c.936A>C, NM_001251971.2:c.507A>C, NM_001251971.1:c.507A>C, XM_005257774.5:c.507A>C, XM_005257774.4:c.507A>C, XM_005257774.3:c.507A>C, XM_005257774.2:c.507A>C, XM_005257774.1:c.507A>C, XM_005257771.4:c.936A>C, XM_005257771.3:c.936A>C, XM_005257771.2:c.936A>C, XM_005257771.1:c.936A>C, XM_005257768.3:c.978A>C, XM_005257768.2:c.978A>C, XM_005257768.1:c.978A>C, XM_017025283.3:c.549A>C, XM_017025283.2:c.549A>C, XM_017025283.1:c.549A>C, XM_017025284.3:c.549A>C, XM_017025284.2:c.549A>C, XM_017025284.1:c.549A>C, XM_017025285.3:c.483A>C, XM_017025285.2:c.483A>C, XM_017025285.1:c.483A>C, NM_172345.1:c.507A>C, NP_003962.3:p.Arg312Ser, NP_001124000.1:p.Arg326Ser, NP_001123999.1:p.Arg312Ser, NP_001238900.1:p.Arg169Ser, XP_005257831.1:p.Arg169Ser, XP_005257828.1:p.Arg312Ser, XP_005257825.1:p.Arg326Ser, XP_016880772.1:p.Arg183Ser, XP_016880773.1:p.Arg183Ser, XP_016880774.1:p.Arg161Ser

Select item 147207179219.

rs1472071792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:50974925 (GRCh38)
17:49052286 (GRCh37)
Canonical SPDI:: NC_000017.11:50974924:T:A
Gene:: SPAG9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50974925T>A, NC_000017.10:g.49052286T>A, NG_029710.1:g.150941A>T, NM_003971.6:c.3504A>T, NM_003971.5:c.3504A>T, NM_001130528.3:c.3546A>T, NM_001130528.2:c.3546A>T, NM_001130527.3:c.3516A>T, NM_001130527.2:c.3516A>T, NM_001251971.2:c.3114A>T, NM_001251971.1:c.3114A>T, XM_005257774.5:c.3075A>T, XM_005257774.4:c.3075A>T, XM_005257774.3:c.3075A>T, XM_005257774.2:c.3075A>T, XM_005257774.1:c.3075A>T, XM_005257771.4:c.3543A>T, XM_005257771.3:c.3543A>T, XM_005257771.2:c.3543A>T, XM_005257771.1:c.3543A>T, XM_005257768.3:c.3585A>T, XM_005257768.2:c.3585A>T, XM_005257768.1:c.3585A>T, XM_017025283.3:c.3156A>T, XM_017025283.2:c.3156A>T, XM_017025283.1:c.3156A>T, XM_017025284.3:c.3117A>T, XM_017025284.2:c.3117A>T, XM_017025284.1:c.3117A>T, XM_017025285.3:c.3090A>T, XM_017025285.2:c.3090A>T, XM_017025285.1:c.3090A>T

Select item 147188147720.

rs1471881477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50996581 (GRCh38)
17:49073942 (GRCh37)
Canonical SPDI:: NC_000017.11:50996580:G:A
Gene:: SPAG9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50996581G>A, NC_000017.10:g.49073942G>A, NG_029710.1:g.129285C>T, NM_003971.6:c.1910C>T, NM_003971.5:c.1910C>T, NM_001130528.3:c.1952C>T, NM_001130528.2:c.1952C>T, NM_001130527.3:c.1922C>T, NM_001130527.2:c.1922C>T, NM_001251971.2:c.1481C>T, NM_001251971.1:c.1481C>T, XM_005257774.5:c.1481C>T, XM_005257774.4:c.1481C>T, XM_005257774.3:c.1481C>T, XM_005257774.2:c.1481C>T, XM_005257774.1:c.1481C>T, XM_005257771.4:c.1910C>T, XM_005257771.3:c.1910C>T, XM_005257771.2:c.1910C>T, XM_005257771.1:c.1910C>T, XM_005257768.3:c.1952C>T, XM_005257768.2:c.1952C>T, XM_005257768.1:c.1952C>T, XM_017025283.3:c.1523C>T, XM_017025283.2:c.1523C>T, XM_017025283.1:c.1523C>T, XM_017025284.3:c.1523C>T, XM_017025284.2:c.1523C>T, XM_017025284.1:c.1523C>T, XM_017025285.3:c.1457C>T, XM_017025285.2:c.1457C>T, XM_017025285.1:c.1457C>T, NM_172345.1:c.860C>T, NP_003962.3:p.Pro637Leu, NP_001124000.1:p.Pro651Leu, NP_001123999.1:p.Pro641Leu, NP_001238900.1:p.Pro494Leu, XP_005257831.1:p.Pro494Leu, XP_005257828.1:p.Pro637Leu, XP_005257825.1:p.Pro651Leu, XP_016880772.1:p.Pro508Leu, XP_016880773.1:p.Pro508Leu, XP_016880774.1:p.Pro486Leu

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