SNP Links for Gene (Select 6609) - SNP

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Select item 14914529681.

rs1491452968 has merged into rs1554933800 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCTGG,CGCTGGCGCTGG,CGCTGGCGCTGGCGCTGG,CGCTGGCGCTGGCGCTGGCGCTGG [Show Flanks]
Chromosome:: 11:6390700 (GRCh38)
11:6411931 (GRCh37)
Canonical SPDI:: NC_000011.10:6390700:CTGG:CTGGCGCTGG,NC_000011.10:6390700:CTGG:CTGGCGCTGGCGCTGG,NC_000011.10:6390700:CTGG:CTGGCGCTGGCGCTGGCGCTGG,NC_000011.10:6390700:CTGG:CTGGCGCTGGCGCTGGCGCTGGCGCTGG
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: CTGGCGCTGGCGCTGG=0./0 (ALFA)
HGVS:: NC_000011.10:g.6390704_6390705insCGCTGG, NC_000011.10:g.6390704_6390705insCGCTGGCGCTGG, NC_000011.10:g.6390705CGCTGG[3], NC_000011.10:g.6390705CGCTGG[4], NC_000011.9:g.6411934_6411935insCGCTGG, NC_000011.9:g.6411934_6411935insCGCTGGCGCTGG, NC_000011.9:g.6411935CGCTGG[3], NC_000011.9:g.6411935CGCTGG[4], NG_011780.1:g.5280_5281insCGCTGG, NG_011780.1:g.5280_5281insCGCTGGCGCTGG, NG_011780.1:g.5281CGCTGG[3], NG_011780.1:g.5281CGCTGG[4], NM_000543.5:c.106_107insCGCTGG, NM_000543.5:c.106_107insCGCTGGCGCTGG, NM_000543.5:c.107CGCTGG[3], NM_000543.5:c.107CGCTGG[4], NM_000543.4:c.106_107insCGCTGG, NM_000543.4:c.106_107insCGCTGGCGCTGG, NM_000543.4:c.107CGCTGG[3], NM_000543.4:c.107CGCTGG[4], NM_001007593.3:c.106_107insCGCTGG, NM_001007593.3:c.106_107insCGCTGGCGCTGG, NM_001007593.3:c.107CGCTGG[3], NM_001007593.3:c.107CGCTGG[4], NM_001007593.2:c.106_107insCGCTGG, NM_001007593.2:c.106_107insCGCTGGCGCTGG, NM_001007593.2:c.107CGCTGG[3], NM_001007593.2:c.107CGCTGG[4], NR_027400.3:n.231_232insCGCTGG, NR_027400.3:n.231_232insCGCTGGCGCTGG, NR_027400.3:n.232CGCTGG[3], NR_027400.3:n.232CGCTGG[4], NR_027400.2:n.291_292insCGCTGG, NR_027400.2:n.291_292insCGCTGGCGCTGG, NR_027400.2:n.292CGCTGG[3], NR_027400.2:n.292CGCTGG[4], NR_027400.1:n.280_281insCGCTGG, NR_027400.1:n.280_281insCGCTGGCGCTGG, NR_027400.1:n.281CGCTGG[3], NR_027400.1:n.281CGCTGG[4], NM_001318088.2:c.-856_-855insCGCTGG, NM_001318088.2:c.-856_-855insCGCTGGCGCTGG, NM_001318088.2:c.-855CGCTGG[3], NM_001318088.2:c.-855CGCTGG[4], NM_001318088.1:c.-856_-855insCGCTGG, NM_001318088.1:c.-856_-855insCGCTGGCGCTGG, NM_001318088.1:c.-855CGCTGG[3], NM_001318088.1:c.-855CGCTGG[4], NM_001318087.2:c.106_107insCGCTGG, NM_001318087.2:c.106_107insCGCTGGCGCTGG, NM_001318087.2:c.107CGCTGG[3], NM_001318087.2:c.107CGCTGG[4], NM_001318087.1:c.106_107insCGCTGG, NM_001318087.1:c.106_107insCGCTGGCGCTGG, NM_001318087.1:c.107CGCTGG[3], NM_001318087.1:c.107CGCTGG[4], NM_001365135.2:c.106_107insCGCTGG, NM_001365135.2:c.106_107insCGCTGGCGCTGG, NM_001365135.2:c.107CGCTGG[3], NM_001365135.2:c.107CGCTGG[4], NM_001365135.1:c.106_107insCGCTGG, NM_001365135.1:c.106_107insCGCTGGCGCTGG, NM_001365135.1:c.107CGCTGG[3], NM_001365135.1:c.107CGCTGG[4], NR_134502.2:n.231_232insCGCTGG, NR_134502.2:n.231_232insCGCTGGCGCTGG, NR_134502.2:n.232CGCTGG[3], NR_134502.2:n.232CGCTGG[4], NR_134502.1:n.291_292insCGCTGG, NR_134502.1:n.291_292insCGCTGGCGCTGG, NR_134502.1:n.292CGCTGG[3], NR_134502.1:n.292CGCTGG[4], XM_011520304.3:c.106_107insCGCTGG, XM_011520304.3:c.106_107insCGCTGGCGCTGG, XM_011520304.3:c.107CGCTGG[3], XM_011520304.3:c.107CGCTGG[4], XM_011520304.2:c.106_107insCGCTGG, XM_011520304.2:c.106_107insCGCTGGCGCTGG, XM_011520304.2:c.107CGCTGG[3], XM_011520304.2:c.107CGCTGG[4], XM_011520304.1:c.106_107insCGCTGG, XM_011520304.1:c.106_107insCGCTGGCGCTGG, XM_011520304.1:c.107CGCTGG[3], XM_011520304.1:c.107CGCTGG[4], NP_000534.3:p.Val36_Leu37insAlaLeu, NP_000534.3:p.Val36_Leu37insAlaLeuAlaLeu, NP_000534.3:p.36AL[3], NP_000534.3:p.36AL[4], NP_001007594.2:p.Val36_Leu37insAlaLeu, NP_001007594.2:p.Val36_Leu37insAlaLeuAlaLeu, NP_001007594.2:p.36AL[3], NP_001007594.2:p.36AL[4], NP_001305016.1:p.Val36_Leu37insAlaLeu, NP_001305016.1:p.Val36_Leu37insAlaLeuAlaLeu, NP_001305016.1:p.36AL[3], NP_001305016.1:p.36AL[4], NP_001352064.1:p.Val36_Leu37insAlaLeu, NP_001352064.1:p.Val36_Leu37insAlaLeuAlaLeu, NP_001352064.1:p.36AL[3], NP_001352064.1:p.36AL[4], XP_011518606.1:p.Val36_Leu37insAlaLeu, XP_011518606.1:p.Val36_Leu37insAlaLeuAlaLeu, XP_011518606.1:p.36AL[3], XP_011518606.1:p.36AL[4]

Select item 14912213222.

rs1491221322 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:6392913 (GRCh38)
11:6414143 (GRCh37)
Canonical SPDI:: NC_000011.10:6392912:CT:
Gene:: SMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.6392913_6392914del, NC_000011.9:g.6414143_6414144del, NG_011780.1:g.7489_7490del

Select item 14907669653.

rs1490766965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6389147 (GRCh38)
11:6410377 (GRCh37)
Canonical SPDI:: NC_000011.10:6389146:G:A
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.6389147G>A, NC_000011.9:g.6410377G>A, NG_011780.1:g.3723G>A

Select item 14907154994.

rs1490715499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6395405 (GRCh38)
11:6416635 (GRCh37)
Canonical SPDI:: NC_000011.10:6395404:G:A
Gene:: APBB1 (Varview), SMPD1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6395405G>A, NC_000011.9:g.6416635G>A, NG_029615.1:g.29010C>T, NM_001164.5:c.*129C>T, NM_001164.4:c.*129C>T, NM_001164.3:c.*129C>T, NM_145689.3:c.*129C>T, NM_145689.2:c.*129C>T, NM_145689.1:c.*129C>T, NM_001257319.3:c.*129C>T, NM_001257319.2:c.*129C>T, NM_001257319.1:c.*129C>T, NM_001257323.3:c.*129C>T, NM_001257323.2:c.*129C>T, NM_001257323.1:c.*129C>T, NM_001257325.3:c.*129C>T, NM_001257325.2:c.*129C>T, NM_001257325.1:c.*129C>T, NM_001257321.2:c.*129C>T, NM_001257321.1:c.*129C>T, NM_001257326.2:c.*129C>T, NM_001257326.1:c.*129C>T, NM_001257320.2:c.*129C>T, NM_001257320.1:c.*129C>T, NG_011780.1:g.9981G>A

Select item 14905317965.

rs1490531796 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCTGGATATGGGAGGGGGTTT [Show Flanks]
Chromosome:: 11:6394765 (GRCh38)
11:6415996 (GRCh37)
Canonical SPDI:: NC_000011.10:6394765:GGTTTAGCTGGATATGGGAGGGGGTTT:GGTTTAGCTGGATATGGGAGGGGGTTTAGCTGGATATGGGAGGGGGTTT
Gene:: APBB1 (Varview), SMPD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGTTTAGCTGGATATGGGAGGGGGTTTAGCTGGATATGGGAGGGGGTTT=0./0 (ALFA)
GGTTTAGCTGGATATGGGAGGG=0.000093/13 (GnomAD)
HGVS:: NC_000011.10:g.6394771_6394792dup, NC_000011.9:g.6416001_6416022dup, NG_029615.1:g.29628_29649dup, NG_011780.1:g.9347_9368dup, NM_000543.5:c.*164_*185dup, NM_000543.4:c.*164_*185dup, NM_001007593.3:c.*164_*185dup, NM_001007593.2:c.*164_*185dup, NR_027400.3:n.2013_2034dup, NR_027400.2:n.2073_2094dup, NR_027400.1:n.2062_2083dup, NM_001318088.2:c.*164_*185dup, NM_001318088.1:c.*164_*185dup, NM_001318087.2:c.*553_*574dup, NM_001318087.1:c.*553_*574dup, NM_001365135.2:c.*164_*185dup, NM_001365135.1:c.*164_*185dup, NR_134502.2:n.1552_1573dup, NR_134502.1:n.1612_1633dup, XM_011520304.3:c.*553_*574dup

Select item 14903051346.

rs1490305134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:6390352 (GRCh38)
11:6411582 (GRCh37)
Canonical SPDI:: NC_000011.10:6390351:C:A,NC_000011.10:6390351:C:T
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.6390352C>A, NC_000011.10:g.6390352C>T, NC_000011.9:g.6411582C>A, NC_000011.9:g.6411582C>T, NG_011780.1:g.4928C>A, NG_011780.1:g.4928C>T, XR_007062572.1:n.5G>T, XR_007062572.1:n.5G>A, XR_007062573.1:n.5G>T, XR_007062573.1:n.5G>A

Select item 14899639747.

rs1489963974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6389416 (GRCh38)
11:6410646 (GRCh37)
Canonical SPDI:: NC_000011.10:6389415:G:A
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6389416G>A, NC_000011.9:g.6410646G>A, NG_011780.1:g.3992G>A

Select item 14899191018.

rs1489919101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6388615 (GRCh38)
11:6409845 (GRCh37)
Canonical SPDI:: NC_000011.10:6388614:T:C
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.6388615T>C, NC_000011.9:g.6409845T>C, NG_011780.1:g.3191T>C

Select item 14895489509.

rs1489548950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6391042 (GRCh38)
11:6412272 (GRCh37)
Canonical SPDI:: NC_000011.10:6391041:C:T
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6391042C>T, NC_000011.9:g.6412272C>T, NG_011780.1:g.5618C>T

Select item 148945147010.

rs1489451470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:6390719 (GRCh38)
11:6411949 (GRCh37)
Canonical SPDI:: NC_000011.10:6390718:C:G,NC_000011.10:6390718:C:T
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.6390719C>G, NC_000011.10:g.6390719C>T, NC_000011.9:g.6411949C>G, NC_000011.9:g.6411949C>T, NG_011780.1:g.5295C>G, NG_011780.1:g.5295C>T, NM_000543.5:c.121C>G, NM_000543.5:c.121C>T, NM_000543.4:c.121C>G, NM_000543.4:c.121C>T, NM_001007593.3:c.121C>G, NM_001007593.3:c.121C>T, NM_001007593.2:c.121C>G, NM_001007593.2:c.121C>T, NR_027400.3:n.246C>G, NR_027400.3:n.246C>T, NR_027400.2:n.306C>G, NR_027400.2:n.306C>T, NR_027400.1:n.295C>G, NR_027400.1:n.295C>T, NM_001318088.2:c.-841C>G, NM_001318088.2:c.-841C>T, NM_001318088.1:c.-841C>G, NM_001318088.1:c.-841C>T, NM_001318087.2:c.121C>G, NM_001318087.2:c.121C>T, NM_001318087.1:c.121C>G, NM_001318087.1:c.121C>T, NM_001365135.2:c.121C>G, NM_001365135.2:c.121C>T, NM_001365135.1:c.121C>G, NM_001365135.1:c.121C>T, NR_134502.2:n.246C>G, NR_134502.2:n.246C>T, NR_134502.1:n.306C>G, NR_134502.1:n.306C>T, XM_011520304.3:c.121C>G, XM_011520304.3:c.121C>T, XM_011520304.2:c.121C>G, XM_011520304.2:c.121C>T, XM_011520304.1:c.121C>G, XM_011520304.1:c.121C>T, NP_000534.3:p.Leu41Val, NP_001007594.2:p.Leu41Val, NP_001305016.1:p.Leu41Val, NP_001352064.1:p.Leu41Val, XP_011518606.1:p.Leu41Val

Select item 148857007811.

rs1488570078 has merged into rs794726889 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCTGGCGCTGGCGCTGG>- [Show Flanks]
Chromosome:: 11:6390705 (GRCh38)
11:6411935 (GRCh37)
Canonical SPDI:: NC_000011.10:6390700:CTGGTGCTGGCGCTGGCGCTGG:CTGG
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,inframe_deletion,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: CTGG=0.002186/53 (ALFA)
-=0.000213/4 (TOMMO)
-=0.001389/323 (GnomAD_exomes)
-=0.001571/167 (ExAC)
-=0.001678/1 (NorthernSweden)
-=0.001837/236 (GnomAD)
HGVS:: NC_000011.10:g.6390705_6390722del, NC_000011.9:g.6411935_6411952del, NG_011780.1:g.5281_5298del, NM_000543.5:c.107_124del, NM_000543.4:c.107_124del, NM_001007593.3:c.107_124del, NM_001007593.2:c.107_124del, NR_027400.3:n.232_249del, NR_027400.2:n.292_309del, NR_027400.1:n.281_298del, NM_001318088.2:c.-855_-838del, NM_001318088.1:c.-855_-838del, NM_001318087.2:c.107_124del, NM_001318087.1:c.107_124del, NM_001365135.2:c.107_124del, NM_001365135.1:c.107_124del, NR_134502.2:n.232_249del, NR_134502.1:n.292_309del, XM_011520304.3:c.107_124del, XM_011520304.2:c.107_124del, XM_011520304.1:c.107_124del, NP_000534.3:p.Val36_Leu41del, NP_001007594.2:p.Val36_Leu41del, NP_001305016.1:p.Val36_Leu41del, NP_001352064.1:p.Val36_Leu41del, XP_011518606.1:p.Val36_Leu41del

Select item 148849766512.

rs1488497665 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGA>- [Show Flanks]
Chromosome:: 11:6389981 (GRCh38)
11:6411211 (GRCh37)
Canonical SPDI:: NC_000011.10:6389976:GTGAGTGA:GTGA
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGAGTGA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6389977GTGA[1], NC_000011.9:g.6411207GTGA[1], NG_011780.1:g.4553GTGA[1]

Select item 148614168813.

rs1486141688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:6391954 (GRCh38)
11:6413184 (GRCh37)
Canonical SPDI:: NC_000011.10:6391953:G:A,NC_000011.10:6391953:G:T
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6391954G>A, NC_000011.10:g.6391954G>T, NC_000011.9:g.6413184G>A, NC_000011.9:g.6413184G>T, NG_011780.1:g.6530G>A, NG_011780.1:g.6530G>T, NM_000543.5:c.889G>A, NM_000543.5:c.889G>T, NM_000543.4:c.889G>A, NM_000543.4:c.889G>T, NM_001007593.3:c.886G>A, NM_001007593.3:c.886G>T, NM_001007593.2:c.886G>A, NM_001007593.2:c.886G>T, NR_027400.3:n.1014G>A, NR_027400.3:n.1014G>T, NR_027400.2:n.1074G>A, NR_027400.2:n.1074G>T, NR_027400.1:n.1063G>A, NR_027400.1:n.1063G>T, NM_001318088.2:c.-73G>A, NM_001318088.2:c.-73G>T, NM_001318088.1:c.-73G>A, NM_001318088.1:c.-73G>T, NM_001318087.2:c.889G>A, NM_001318087.2:c.889G>T, NM_001318087.1:c.889G>A, NM_001318087.1:c.889G>T, NM_001365135.2:c.889G>A, NM_001365135.2:c.889G>T, NM_001365135.1:c.889G>A, NM_001365135.1:c.889G>T, XM_011520304.3:c.889G>A, XM_011520304.3:c.889G>T, XM_011520304.2:c.889G>A, XM_011520304.2:c.889G>T, XM_011520304.1:c.889G>A, XM_011520304.1:c.889G>T, NP_000534.3:p.Ala297Thr, NP_000534.3:p.Ala297Ser, NP_001007594.2:p.Ala296Thr, NP_001007594.2:p.Ala296Ser, NP_001305016.1:p.Ala297Thr, NP_001305016.1:p.Ala297Ser, NP_001352064.1:p.Ala297Thr, NP_001352064.1:p.Ala297Ser, XP_011518606.1:p.Ala297Thr, XP_011518606.1:p.Ala297Ser

Select item 148559176614.

rs1485591766 has merged into rs754271358 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:6392497 (GRCh38)
11:6413727 (GRCh37)
Canonical SPDI:: NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:6392486:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000011.10:g.6392497_6392515del, NC_000011.10:g.6392498_6392515del, NC_000011.10:g.6392500_6392515del, NC_000011.10:g.6392501_6392515del, NC_000011.10:g.6392502_6392515del, NC_000011.10:g.6392503_6392515del, NC_000011.10:g.6392504_6392515del, NC_000011.10:g.6392505_6392515del, NC_000011.10:g.6392506_6392515del, NC_000011.10:g.6392507_6392515del, NC_000011.10:g.6392508_6392515del, NC_000011.10:g.6392509_6392515del, NC_000011.10:g.6392510_6392515del, NC_000011.10:g.6392511_6392515del, NC_000011.10:g.6392512_6392515del, NC_000011.10:g.6392513_6392515del, NC_000011.10:g.6392514_6392515del, NC_000011.10:g.6392515del, NC_000011.10:g.6392515dup, NC_000011.10:g.6392514_6392515dup, NC_000011.10:g.6392513_6392515dup, NC_000011.10:g.6392512_6392515dup, NC_000011.10:g.6392511_6392515dup, NC_000011.10:g.6392510_6392515dup, NC_000011.10:g.6392509_6392515dup, NC_000011.10:g.6392508_6392515dup, NC_000011.10:g.6392507_6392515dup, NC_000011.10:g.6392506_6392515dup, NC_000011.10:g.6392505_6392515dup, NC_000011.10:g.6392504_6392515dup, NC_000011.10:g.6392503_6392515dup, NC_000011.10:g.6392502_6392515dup, NC_000011.10:g.6392500_6392515dup, NC_000011.10:g.6392499_6392515dup, NC_000011.10:g.6392498_6392515dup, NC_000011.10:g.6392496_6392515dup, NC_000011.10:g.6392493_6392515dup, NC_000011.10:g.6392487_6392515dup, NC_000011.10:g.6392515_6392516insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.6413727_6413745del, NC_000011.9:g.6413728_6413745del, NC_000011.9:g.6413730_6413745del, NC_000011.9:g.6413731_6413745del, NC_000011.9:g.6413732_6413745del, NC_000011.9:g.6413733_6413745del, NC_000011.9:g.6413734_6413745del, NC_000011.9:g.6413735_6413745del, NC_000011.9:g.6413736_6413745del, NC_000011.9:g.6413737_6413745del, NC_000011.9:g.6413738_6413745del, NC_000011.9:g.6413739_6413745del, NC_000011.9:g.6413740_6413745del, NC_000011.9:g.6413741_6413745del, NC_000011.9:g.6413742_6413745del, NC_000011.9:g.6413743_6413745del, NC_000011.9:g.6413744_6413745del, NC_000011.9:g.6413745del, NC_000011.9:g.6413745dup, NC_000011.9:g.6413744_6413745dup, NC_000011.9:g.6413743_6413745dup, NC_000011.9:g.6413742_6413745dup, NC_000011.9:g.6413741_6413745dup, NC_000011.9:g.6413740_6413745dup, NC_000011.9:g.6413739_6413745dup, NC_000011.9:g.6413738_6413745dup, NC_000011.9:g.6413737_6413745dup, NC_000011.9:g.6413736_6413745dup, NC_000011.9:g.6413735_6413745dup, NC_000011.9:g.6413734_6413745dup, NC_000011.9:g.6413733_6413745dup, NC_000011.9:g.6413732_6413745dup, NC_000011.9:g.6413730_6413745dup, NC_000011.9:g.6413729_6413745dup, NC_000011.9:g.6413728_6413745dup, NC_000011.9:g.6413726_6413745dup, NC_000011.9:g.6413723_6413745dup, NC_000011.9:g.6413717_6413745dup, NC_000011.9:g.6413745_6413746insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011780.1:g.7073_7091del, NG_011780.1:g.7074_7091del, NG_011780.1:g.7076_7091del, NG_011780.1:g.7077_7091del, NG_011780.1:g.7078_7091del, NG_011780.1:g.7079_7091del, NG_011780.1:g.7080_7091del, NG_011780.1:g.7081_7091del, NG_011780.1:g.7082_7091del, NG_011780.1:g.7083_7091del, NG_011780.1:g.7084_7091del, NG_011780.1:g.7085_7091del, NG_011780.1:g.7086_7091del, NG_011780.1:g.7087_7091del, NG_011780.1:g.7088_7091del, NG_011780.1:g.7089_7091del, NG_011780.1:g.7090_7091del, NG_011780.1:g.7091del, NG_011780.1:g.7091dup, NG_011780.1:g.7090_7091dup, NG_011780.1:g.7089_7091dup, NG_011780.1:g.7088_7091dup, NG_011780.1:g.7087_7091dup, NG_011780.1:g.7086_7091dup, NG_011780.1:g.7085_7091dup, NG_011780.1:g.7084_7091dup, NG_011780.1:g.7083_7091dup, NG_011780.1:g.7082_7091dup, NG_011780.1:g.7081_7091dup, NG_011780.1:g.7080_7091dup, NG_011780.1:g.7079_7091dup, NG_011780.1:g.7078_7091dup, NG_011780.1:g.7076_7091dup, NG_011780.1:g.7075_7091dup, NG_011780.1:g.7074_7091dup, NG_011780.1:g.7072_7091dup, NG_011780.1:g.7069_7091dup, NG_011780.1:g.7063_7091dup, NG_011780.1:g.7091_7092insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148479487015.

rs1484794870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6392760 (GRCh38)
11:6413990 (GRCh37)
Canonical SPDI:: NC_000011.10:6392759:T:C
Gene:: SMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6392760T>C, NC_000011.9:g.6413990T>C, NG_011780.1:g.7336T>C

Select item 148465188816.

rs1484651888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6392550 (GRCh38)
11:6413780 (GRCh37)
Canonical SPDI:: NC_000011.10:6392549:T:C
Gene:: SMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000017/2 (GnomAD)
HGVS:: NC_000011.10:g.6392550T>C, NC_000011.9:g.6413780T>C, NG_011780.1:g.7126T>C

Select item 148403399317.

rs1484033993 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT,TTT,TTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 11:6392485 (GRCh38)
11:6413716 (GRCh37)
Canonical SPDI:: NC_000011.10:6392485::T,NC_000011.10:6392485::TT,NC_000011.10:6392485::TTT,NC_000011.10:6392485::TTTT,NC_000011.10:6392485::TTTTTTT,NC_000011.10:6392485::TTTTTTTTT
Gene:: SMPD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00018/3 (ALFA)
T=0.00109/7 (1000Genomes)
HGVS:: NC_000011.10:g.6392485_6392486insT, NC_000011.10:g.6392485_6392486insTT, NC_000011.10:g.6392485_6392486insTTT, NC_000011.10:g.6392485_6392486insTTTT, NC_000011.10:g.6392485_6392486insTTTTTTT, NC_000011.10:g.6392485_6392486insTTTTTTTTT, NC_000011.9:g.6413715_6413716insT, NC_000011.9:g.6413715_6413716insTT, NC_000011.9:g.6413715_6413716insTTT, NC_000011.9:g.6413715_6413716insTTTT, NC_000011.9:g.6413715_6413716insTTTTTTT, NC_000011.9:g.6413715_6413716insTTTTTTTTT, NG_011780.1:g.7061_7062insT, NG_011780.1:g.7061_7062insTT, NG_011780.1:g.7061_7062insTTT, NG_011780.1:g.7061_7062insTTTT, NG_011780.1:g.7061_7062insTTTTTTT, NG_011780.1:g.7061_7062insTTTTTTTTT

Select item 148310413618.

rs1483104136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:6390935 (GRCh38)
11:6412165 (GRCh37)
Canonical SPDI:: NC_000011.10:6390934:G:C
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6390935G>C, NC_000011.9:g.6412165G>C, NG_011780.1:g.5511G>C

Select item 148236221219.

rs1482362212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:6390514 (GRCh38)
11:6411744 (GRCh37)
Canonical SPDI:: NC_000011.10:6390513:C:G
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_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)
G=0.001124/2 (Korea1K)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.6390514C>G, NC_000011.9:g.6411744C>G, NG_011780.1:g.5090C>G, NM_000543.5:c.-85C>G, NM_000543.4:c.-85C>G, NM_001007593.3:c.-85C>G, NM_001007593.2:c.-85C>G, NR_027400.3:n.41C>G, NR_027400.2:n.101C>G, NR_027400.1:n.90C>G, NM_001318088.2:c.-1046C>G, NM_001318088.1:c.-1046C>G, NM_001318087.2:c.-85C>G, NM_001318087.1:c.-85C>G, NM_001365135.2:c.-85C>G, NM_001365135.1:c.-85C>G, NR_134502.2:n.41C>G, NR_134502.1:n.101C>G, XM_011520304.3:c.-85C>G, XM_011520304.2:c.-85C>G, XM_011520304.1:c.-85C>G

Select item 148202290820.

rs1482022908 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:6389428 (GRCh38)
11:6410658 (GRCh37)
Canonical SPDI:: NC_000011.10:6389427:T:A
Gene:: SMPD1 (Varview), LOC124902624 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.6389428T>A, NC_000011.9:g.6410658T>A, NG_011780.1:g.4004T>A

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