SNP Links for Gene (Select 83932) - SNP

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Select item 14914714561.

rs1491471456 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:231351418 (GRCh38)
1:231487164 (GRCh37)
Canonical SPDI:: NC_000001.11:231351417:AG:
Gene:: SPRTN (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.231351418_231351419del, NC_000001.10:g.231487164_231487165del, NG_042052.1:g.18483_18484del, NM_032018.7:c.565_566del, NM_032018.6:c.565_566del, NM_032018.5:c.565_566del, NM_001010984.4:c.565_566del, NM_001010984.3:c.565_566del, NM_001010984.2:c.565_566del, NM_001261462.3:c.436_437del, NM_001261462.2:c.436_437del, NM_001261462.1:c.436_437del, XM_006711818.4:c.436_437del, XM_006711818.3:c.436_437del, XM_006711818.2:c.436_437del, XM_006711818.1:c.436_437del, NP_114407.3:p.Arg189fs, NP_001010984.1:p.Arg189fs, NP_001248391.1:p.Arg146fs, XP_006711881.1:p.Arg146fs

Select item 14914549822.

rs1491454982 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAC,AAC,AC [Show Flanks]
Chromosome:: 1:231340061 (GRCh38)
1:231475808 (GRCh37)
Canonical SPDI:: NC_000001.11:231340061::AAAC,NC_000001.11:231340061::AAC,NC_000001.11:231340061::AC
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAC=0./0 (ALFA)
AAC=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.231340061_231340062insAAAC, NC_000001.11:g.231340061_231340062insAAC, NC_000001.11:g.231340061_231340062insAC, NC_000001.10:g.231475807_231475808insAAAC, NC_000001.10:g.231475807_231475808insAAC, NC_000001.10:g.231475807_231475808insAC, NG_042052.1:g.7126_7127insAAAC, NG_042052.1:g.7126_7127insAAC, NG_042052.1:g.7126_7127insAC, NG_051632.1:g.2811_2812insGTTT, NG_051632.1:g.2811_2812insGTT, NG_051632.1:g.2811_2812insGT

Select item 14914049213.

rs1491404921 has merged into rs35814914 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:231351216 (GRCh38)
1:231486962 (GRCh37)
Canonical SPDI:: NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
AAA=0.4992/2500 (1000Genomes)
HGVS:: NC_000001.11:g.231351216_231351229del, NC_000001.11:g.231351218_231351229del, NC_000001.11:g.231351219_231351229del, NC_000001.11:g.231351220_231351229del, NC_000001.11:g.231351221_231351229del, NC_000001.11:g.231351223_231351229del, NC_000001.11:g.231351224_231351229del, NC_000001.11:g.231351225_231351229del, NC_000001.11:g.231351226_231351229del, NC_000001.11:g.231351227_231351229del, NC_000001.11:g.231351228_231351229del, NC_000001.11:g.231351229del, NC_000001.11:g.231351229dup, NC_000001.11:g.231351228_231351229dup, NC_000001.11:g.231351227_231351229dup, NC_000001.11:g.231351225_231351229dup, NC_000001.11:g.231351224_231351229dup, NC_000001.11:g.231351223_231351229dup, NC_000001.11:g.231351222_231351229dup, NC_000001.11:g.231351221_231351229dup, NC_000001.11:g.231351220_231351229dup, NC_000001.11:g.231351219_231351229dup, NC_000001.11:g.231351206_231351229A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.231486962_231486975del, NC_000001.10:g.231486964_231486975del, NC_000001.10:g.231486965_231486975del, NC_000001.10:g.231486966_231486975del, NC_000001.10:g.231486967_231486975del, NC_000001.10:g.231486969_231486975del, NC_000001.10:g.231486970_231486975del, NC_000001.10:g.231486971_231486975del, NC_000001.10:g.231486972_231486975del, NC_000001.10:g.231486973_231486975del, NC_000001.10:g.231486974_231486975del, NC_000001.10:g.231486975del, NC_000001.10:g.231486975dup, NC_000001.10:g.231486974_231486975dup, NC_000001.10:g.231486973_231486975dup, NC_000001.10:g.231486971_231486975dup, NC_000001.10:g.231486970_231486975dup, NC_000001.10:g.231486969_231486975dup, NC_000001.10:g.231486968_231486975dup, NC_000001.10:g.231486967_231486975dup, NC_000001.10:g.231486966_231486975dup, NC_000001.10:g.231486965_231486975dup, NC_000001.10:g.231486952_231486975A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_042052.1:g.18281_18294del, NG_042052.1:g.18283_18294del, NG_042052.1:g.18284_18294del, NG_042052.1:g.18285_18294del, NG_042052.1:g.18286_18294del, NG_042052.1:g.18288_18294del, NG_042052.1:g.18289_18294del, NG_042052.1:g.18290_18294del, NG_042052.1:g.18291_18294del, NG_042052.1:g.18292_18294del, NG_042052.1:g.18293_18294del, NG_042052.1:g.18294del, NG_042052.1:g.18294dup, NG_042052.1:g.18293_18294dup, NG_042052.1:g.18292_18294dup, NG_042052.1:g.18290_18294dup, NG_042052.1:g.18289_18294dup, NG_042052.1:g.18288_18294dup, NG_042052.1:g.18287_18294dup, NG_042052.1:g.18286_18294dup, NG_042052.1:g.18285_18294dup, NG_042052.1:g.18284_18294dup, NG_042052.1:g.18271_18294A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14913675364.

rs1491367536 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:231340062 (GRCh38)
1:231475808 (GRCh37)
Canonical SPDI:: NC_000001.11:231340060:ACA:A
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.231340062_231340063del, NC_000001.10:g.231475808_231475809del, NG_042052.1:g.7127_7128del, NG_051632.1:g.2811_2812del

Select item 14913137375.

rs1491313737 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:231351418 (GRCh38)
1:231487165 (GRCh37)
Canonical SPDI:: NC_000001.11:231351418:GGG:GGGG
Gene:: SPRTN (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.231351421dup, NC_000001.10:g.231487167dup, NG_042052.1:g.18486dup, NM_032018.7:c.568dup, NM_032018.6:c.568dup, NM_032018.5:c.568dup, NM_001010984.4:c.568dup, NM_001010984.3:c.568dup, NM_001010984.2:c.568dup, NM_001261462.3:c.439dup, NM_001261462.2:c.439dup, NM_001261462.1:c.439dup, XM_006711818.4:c.439dup, XM_006711818.3:c.439dup, XM_006711818.2:c.439dup, XM_006711818.1:c.439dup, NP_114407.3:p.Glu190fs, NP_001010984.1:p.Glu190fs, NP_001248391.1:p.Glu147fs, XP_006711881.1:p.Glu147fs

Select item 14911218186.

rs1491121818 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:231351205 (GRCh38)
1:231486951 (GRCh37)
Canonical SPDI:: NC_000001.11:231351204:TA:
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.231351205_231351206del, NC_000001.10:g.231486951_231486952del, NG_042052.1:g.18270_18271del

Select item 14910068537.

rs1491006853 has merged into rs35814914 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:231351216 (GRCh38)
1:231486962 (GRCh37)
Canonical SPDI:: NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:231351205:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
AAA=0.4992/2500 (1000Genomes)
HGVS:: NC_000001.11:g.231351216_231351229del, NC_000001.11:g.231351218_231351229del, NC_000001.11:g.231351219_231351229del, NC_000001.11:g.231351220_231351229del, NC_000001.11:g.231351221_231351229del, NC_000001.11:g.231351223_231351229del, NC_000001.11:g.231351224_231351229del, NC_000001.11:g.231351225_231351229del, NC_000001.11:g.231351226_231351229del, NC_000001.11:g.231351227_231351229del, NC_000001.11:g.231351228_231351229del, NC_000001.11:g.231351229del, NC_000001.11:g.231351229dup, NC_000001.11:g.231351228_231351229dup, NC_000001.11:g.231351227_231351229dup, NC_000001.11:g.231351225_231351229dup, NC_000001.11:g.231351224_231351229dup, NC_000001.11:g.231351223_231351229dup, NC_000001.11:g.231351222_231351229dup, NC_000001.11:g.231351221_231351229dup, NC_000001.11:g.231351220_231351229dup, NC_000001.11:g.231351219_231351229dup, NC_000001.11:g.231351206_231351229A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.231486962_231486975del, NC_000001.10:g.231486964_231486975del, NC_000001.10:g.231486965_231486975del, NC_000001.10:g.231486966_231486975del, NC_000001.10:g.231486967_231486975del, NC_000001.10:g.231486969_231486975del, NC_000001.10:g.231486970_231486975del, NC_000001.10:g.231486971_231486975del, NC_000001.10:g.231486972_231486975del, NC_000001.10:g.231486973_231486975del, NC_000001.10:g.231486974_231486975del, NC_000001.10:g.231486975del, NC_000001.10:g.231486975dup, NC_000001.10:g.231486974_231486975dup, NC_000001.10:g.231486973_231486975dup, NC_000001.10:g.231486971_231486975dup, NC_000001.10:g.231486970_231486975dup, NC_000001.10:g.231486969_231486975dup, NC_000001.10:g.231486968_231486975dup, NC_000001.10:g.231486967_231486975dup, NC_000001.10:g.231486966_231486975dup, NC_000001.10:g.231486965_231486975dup, NC_000001.10:g.231486952_231486975A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_042052.1:g.18281_18294del, NG_042052.1:g.18283_18294del, NG_042052.1:g.18284_18294del, NG_042052.1:g.18285_18294del, NG_042052.1:g.18286_18294del, NG_042052.1:g.18288_18294del, NG_042052.1:g.18289_18294del, NG_042052.1:g.18290_18294del, NG_042052.1:g.18291_18294del, NG_042052.1:g.18292_18294del, NG_042052.1:g.18293_18294del, NG_042052.1:g.18294del, NG_042052.1:g.18294dup, NG_042052.1:g.18293_18294dup, NG_042052.1:g.18292_18294dup, NG_042052.1:g.18290_18294dup, NG_042052.1:g.18289_18294dup, NG_042052.1:g.18288_18294dup, NG_042052.1:g.18287_18294dup, NG_042052.1:g.18286_18294dup, NG_042052.1:g.18285_18294dup, NG_042052.1:g.18284_18294dup, NG_042052.1:g.18271_18294A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14908477798.

rs1490847779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:231340240 (GRCh38)
1:231475986 (GRCh37)
Canonical SPDI:: NC_000001.11:231340239:G:A
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.231340240G>A, NC_000001.10:g.231475986G>A, NG_042052.1:g.7305G>A, NG_051632.1:g.2633C>T

Select item 14905655179.

rs1490565517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:231348438 (GRCh38)
1:231484184 (GRCh37)
Canonical SPDI:: NC_000001.11:231348437:G:C
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.231348438G>C, NC_000001.10:g.231484184G>C, NG_042052.1:g.15503G>C

Select item 149053297410.

rs1490532974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:231344929 (GRCh38)
1:231480675 (GRCh37)
Canonical SPDI:: NC_000001.11:231344928:T:C,NC_000001.11:231344928:T:G
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.231344929T>C, NC_000001.11:g.231344929T>G, NC_000001.10:g.231480675T>C, NC_000001.10:g.231480675T>G, NG_042052.1:g.11994T>C, NG_042052.1:g.11994T>G

Select item 149001103211.

rs1490011032 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TTTT [Show Flanks]
Chromosome:: 1:231348234 (GRCh38)
1:231483980 (GRCh37)
Canonical SPDI:: NC_000001.11:231348230:TTTTTT:TTT,NC_000001.11:231348230:TTTTTT:TTTTTTT
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.231348234_231348236del, NC_000001.11:g.231348236dup, NC_000001.10:g.231483980_231483982del, NC_000001.10:g.231483982dup, NG_042052.1:g.15299_15301del, NG_042052.1:g.15301dup

Select item 149000401512.

rs1490004015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:231346774 (GRCh38)
1:231482520 (GRCh37)
Canonical SPDI:: NC_000001.11:231346773:C:A,NC_000001.11:231346773:C:T
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.231346774C>A, NC_000001.11:g.231346774C>T, NC_000001.10:g.231482520C>A, NC_000001.10:g.231482520C>T, NG_042052.1:g.13839C>A, NG_042052.1:g.13839C>T

Select item 148973701813.

rs1489737018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:231338974 (GRCh38)
1:231474720 (GRCh37)
Canonical SPDI:: NC_000001.11:231338973:G:T
Gene:: SPRTN (Varview), EXOC8 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.231338974G>T, NC_000001.10:g.231474720G>T, NG_042052.1:g.6039G>T, NG_051632.1:g.3899C>A

Select item 148972440914.

rs1489724409 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:231346187 (GRCh38)
1:231481934 (GRCh37)
Canonical SPDI:: NC_000001.11:231346187::C
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.01054/125 (ALFA)
C=0.00023/4 (TOMMO)
C=0.03026/789 (GnomAD)
HGVS:: NC_000001.11:g.231346187_231346188insC, NC_000001.10:g.231481933_231481934insC, NG_042052.1:g.13252_13253insC

Select item 148968217515.

rs1489682175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:231343182 (GRCh38)
1:231478928 (GRCh37)
Canonical SPDI:: NC_000001.11:231343181:C:A,NC_000001.11:231343181:C:T
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.231343182C>A, NC_000001.11:g.231343182C>T, NC_000001.10:g.231478928C>A, NC_000001.10:g.231478928C>T, NG_042052.1:g.10247C>A, NG_042052.1:g.10247C>T

Select item 148966928916.

rs1489669289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:231355129 (GRCh38)
1:231490875 (GRCh37)
Canonical SPDI:: NC_000001.11:231355128:C:T
Gene:: SPRTN (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.231355129C>T, NC_000001.10:g.231490875C>T, NG_042052.1:g.22194C>T

Select item 148960405417.

rs1489604054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:231340046 (GRCh38)
1:231475792 (GRCh37)
Canonical SPDI:: NC_000001.11:231340045:G:A
Gene:: SPRTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.231340046G>A, NC_000001.10:g.231475792G>A, NG_042052.1:g.7111G>A, NG_051632.1:g.2827C>T

Select item 148957321718.

rs1489573217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:231339427 (GRCh38)
1:231475173 (GRCh37)
Canonical SPDI:: NC_000001.11:231339426:T:C
Gene:: SPRTN (Varview), EXOC8 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.231339427T>C, NC_000001.10:g.231475173T>C, NG_042052.1:g.6492T>C, NG_051632.1:g.3446A>G

Select item 148949456019.

rs1489494560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:231354481 (GRCh38)
1:231490227 (GRCh37)
Canonical SPDI:: NC_000001.11:231354480:C:T
Gene:: SPRTN (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.231354481C>T, NC_000001.10:g.231490227C>T, NG_042052.1:g.21546C>T, NM_032018.7:c.*1120C>T, NM_032018.6:c.*1120C>T, NM_032018.5:c.*1120C>T, NM_001010984.4:c.*2875C>T, NM_001010984.3:c.*2875C>T, NM_001010984.2:c.*2875C>T, NM_001261462.3:c.*2875C>T, NM_001261462.2:c.*2875C>T, NM_001261462.1:c.*2875C>T, XM_006711818.4:c.*1120C>T, XM_006711818.3:c.*1120C>T, XM_006711818.2:c.*1120C>T, XM_006711818.1:c.*1120C>T

Select item 148942455720.

rs1489424557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:231350461 (GRCh38)
1:231486207 (GRCh37)
Canonical SPDI:: NC_000001.11:231350460:G:T
Gene:: SPRTN (Varview)
Functional Consequence:: intron_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_000001.11:g.231350461G>T, NC_000001.10:g.231486207G>T, NG_042052.1:g.17526G>T

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