SNP Links for Gene (Select 2588) - SNP

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Select item 14915264481.

rs1491526448 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCCG,CCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG,CG,CGCGGGGTCTGGGAAGAGGCTGCAGGGCCCCCCG,CGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG,TGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG [Show Flanks]
Chromosome:: 16:88834643 (GRCh38)
16:88901052 (GRCh37)
Canonical SPDI:: NC_000016.10:88834643::CCCG,NC_000016.10:88834643::CCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG,NC_000016.10:88834643::CG,NC_000016.10:88834643::CGCGGGGTCTGGGAAGAGGCTGCAGGGCCCCCCG,NC_000016.10:88834643::CGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG,NC_000016.10:88834643::TGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0./0 (ALFA)
CG=0.000004/1 (TOPMED)
CGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG=0.02821/29 (Korea1K)
HGVS:: NC_000016.10:g.88834643_88834644insCCCG, NC_000016.10:g.88834643_88834644insCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG, NC_000016.10:g.88834643_88834644insCG, NC_000016.10:g.88834643_88834644insCGCGGGGTCTGGGAAGAGGCTGCAGGGCCCCCCG, NC_000016.10:g.88834643_88834644insCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG, NC_000016.10:g.88834643_88834644insTGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG, NC_000016.9:g.88901051_88901052insCCCG, NC_000016.9:g.88901051_88901052insCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG, NC_000016.9:g.88901051_88901052insCG, NC_000016.9:g.88901051_88901052insCGCGGGGTCTGGGAAGAGGCTGCAGGGCCCCCCG, NC_000016.9:g.88901051_88901052insCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG, NC_000016.9:g.88901051_88901052insTGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG, NG_008667.1:g.27323_27324insCGGG, NG_008667.1:g.27323_27324insCGGGGGGCCCTGCAGCCTCTTCCCAGACCACGCGG, NG_008667.1:g.27323_27324insCG, NG_008667.1:g.27323_27324insCGGGGGGCCCTGCAGCCTCTTCCCAGACCCCGCG, NG_008667.1:g.27323_27324insCGGGGGGCCCTGCAGCCTCTTCCCAGACCACGCG, NG_008667.1:g.27323_27324insCGGGGGGCCCTGCAGCCTCTTCCCAGACCACGCA

Select item 14914647632.

rs1491464763 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:88853251 (GRCh38)
16:88919659 (GRCh37)
Canonical SPDI:: NC_000016.10:88853250:CA:
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00219/61 (TOMMO)
HGVS:: NC_000016.10:g.88853251_88853252del, NC_000016.9:g.88919659_88919660del, NG_008667.1:g.8715_8716del

Select item 14914300193.

rs1491430019 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GCT,TCT [Show Flanks]
Chromosome:: 16:88834460 (GRCh38)
16:88900869 (GRCh37)
Canonical SPDI:: NC_000016.10:88834460::G,NC_000016.10:88834460::GCT,NC_000016.10:88834460::TCT
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0.00008/1 (ALFA)
TCT=0.00005/1 (TOMMO)
TCT=0.00222/83 (GnomAD)
HGVS:: NC_000016.10:g.88834460_88834461insG, NC_000016.10:g.88834460_88834461insGCT, NC_000016.10:g.88834460_88834461insTCT, NC_000016.9:g.88900868_88900869insG, NC_000016.9:g.88900868_88900869insGCT, NC_000016.9:g.88900868_88900869insTCT, NG_008667.1:g.27506_27507insC, NG_008667.1:g.27506_27507insAGC, NG_008667.1:g.27506_27507insAGA

Select item 14913838244.

rs1491383824 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 16:88834635 (GRCh38)
16:88901044 (GRCh37)
Canonical SPDI:: NC_000016.10:88834635::A,NC_000016.10:88834635::G
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.88834635_88834636insA, NC_000016.10:g.88834635_88834636insG, NC_000016.9:g.88901043_88901044insA, NC_000016.9:g.88901043_88901044insG, NG_008667.1:g.27331_27332insT, NG_008667.1:g.27331_27332insC

Select item 14912915335.

rs1491291533 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CA
Chromosome:: no mapping
Canonical SPDI:

Select item 14912503136.

rs1491250313 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:88833454 (GRCh38)
16:88899862 (GRCh37)
Canonical SPDI:: NC_000016.10:88833453:CT:
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.001596/27 (TOMMO)
-=0.002183/4 (Korea1K)
HGVS:: NC_000016.10:g.88833454_88833455del, NC_000016.9:g.88899862_88899863del, NG_008667.1:g.28512_28513del

Select item 14912363177.

rs1491236317 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTCACCTCCTCCCCACCCCC [Show Flanks]
Chromosome:: 16:88834985 (GRCh38)
16:88901394 (GRCh37)
Canonical SPDI:: NC_000016.10:88834985:GTGTCACCTCCTCCCCACCCCC:GTGTCACCTCCTCCCCACCCCCGTGTCACCTCCTCCCCACCCCC
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTCACCTCCTCCCCACCCCCGTGTCACCTCCTCCCCACCCCC=0.000169/2 (ALFA)
GTGTCACCTCCTCCCCACCCCC=0.000289/37 (GnomAD)
HGVS:: NC_000016.10:g.88834986_88835007dup, NC_000016.9:g.88901394_88901415dup, NG_008667.1:g.26960_26981dup

Select item 14911587678.

rs1491158767 has merged into rs869226834 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:88833087 (GRCh38)
16:88899495 (GRCh37)
Canonical SPDI:: NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:88833077:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.88833087_88833100del, NC_000016.10:g.88833089_88833100del, NC_000016.10:g.88833090_88833100del, NC_000016.10:g.88833091_88833100del, NC_000016.10:g.88833092_88833100del, NC_000016.10:g.88833093_88833100del, NC_000016.10:g.88833094_88833100del, NC_000016.10:g.88833095_88833100del, NC_000016.10:g.88833096_88833100del, NC_000016.10:g.88833097_88833100del, NC_000016.10:g.88833098_88833100del, NC_000016.10:g.88833099_88833100del, NC_000016.10:g.88833100del, NC_000016.10:g.88833100dup, NC_000016.10:g.88833099_88833100dup, NC_000016.10:g.88833098_88833100dup, NC_000016.10:g.88833097_88833100dup, NC_000016.10:g.88833096_88833100dup, NC_000016.10:g.88833095_88833100dup, NC_000016.10:g.88833093_88833100dup, NC_000016.10:g.88833091_88833100dup, NC_000016.9:g.88899495_88899508del, NC_000016.9:g.88899497_88899508del, NC_000016.9:g.88899498_88899508del, NC_000016.9:g.88899499_88899508del, NC_000016.9:g.88899500_88899508del, NC_000016.9:g.88899501_88899508del, NC_000016.9:g.88899502_88899508del, NC_000016.9:g.88899503_88899508del, NC_000016.9:g.88899504_88899508del, NC_000016.9:g.88899505_88899508del, NC_000016.9:g.88899506_88899508del, NC_000016.9:g.88899507_88899508del, NC_000016.9:g.88899508del, NC_000016.9:g.88899508dup, NC_000016.9:g.88899507_88899508dup, NC_000016.9:g.88899506_88899508dup, NC_000016.9:g.88899505_88899508dup, NC_000016.9:g.88899504_88899508dup, NC_000016.9:g.88899503_88899508dup, NC_000016.9:g.88899501_88899508dup, NC_000016.9:g.88899499_88899508dup, NG_008667.1:g.28876_28889del, NG_008667.1:g.28878_28889del, NG_008667.1:g.28879_28889del, NG_008667.1:g.28880_28889del, NG_008667.1:g.28881_28889del, NG_008667.1:g.28882_28889del, NG_008667.1:g.28883_28889del, NG_008667.1:g.28884_28889del, NG_008667.1:g.28885_28889del, NG_008667.1:g.28886_28889del, NG_008667.1:g.28887_28889del, NG_008667.1:g.28888_28889del, NG_008667.1:g.28889del, NG_008667.1:g.28889dup, NG_008667.1:g.28888_28889dup, NG_008667.1:g.28887_28889dup, NG_008667.1:g.28886_28889dup, NG_008667.1:g.28885_28889dup, NG_008667.1:g.28884_28889dup, NG_008667.1:g.28882_28889dup, NG_008667.1:g.28880_28889dup

Select item 14911526999.

rs1491152699 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:88838133 (GRCh38)
16:88904541 (GRCh37)
Canonical SPDI:: NC_000016.10:88838129:GAGAG:GAG
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.88838131AG[1], NC_000016.9:g.88904539AG[1], NG_008667.1:g.23834TC[1]

Select item 149114791910.

rs1491147919 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:88833077 (GRCh38)
16:88899485 (GRCh37)
Canonical SPDI:: NC_000016.10:88833076:CA:
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00396/47 (ALFA)
-=0.00412/114 (TOMMO)
HGVS:: NC_000016.10:g.88833077_88833078del, NC_000016.9:g.88899485_88899486del, NG_008667.1:g.28889_28890del

Select item 149111385111.

rs1491113851 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 16:88834645 (GRCh38)
16:88901053 (GRCh37)
Canonical SPDI:: NC_000016.10:88834642:CGCG:CG
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGCG=0./0 (ALFA)
HGVS:: NC_000016.10:g.88834643CG[1], NC_000016.9:g.88901051CG[1], NG_008667.1:g.27321CG[1]

Select item 149111098012.

rs1491110980 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCCCAGACCTATGTGGGTCCCGAGTCTTATGCCA,TCCCAGACCTATGTGGGTCCCGAGTCTTATGCCAACATCTCCCAG [Show Flanks]
Chromosome:: 16:88829202 (GRCh38)
16:88895611 (GRCh37)
Canonical SPDI:: NC_000016.10:88829202::TCCCAGACCTATGTGGGTCCCGAGTCTTATGCCA,NC_000016.10:88829202::TCCCAGACCTATGTGGGTCCCGAGTCTTATGCCAACATCTCCCAG
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.88829202_88829203insTCCCAGACCTATGTGGGTCCCGAGTCTTATGCCA, NC_000016.10:g.88829202_88829203insTCCCAGACCTATGTGGGTCCCGAGTCTTATGCCAACATCTCCCAG, NC_000016.9:g.88895610_88895611insTCCCAGACCTATGTGGGTCCCGAGTCTTATGCCA, NC_000016.9:g.88895610_88895611insTCCCAGACCTATGTGGGTCCCGAGTCTTATGCCAACATCTCCCAG, NG_008667.1:g.32764_32765insTGGCATAAGACTCGGGACCCACATAGGTCTGGGA, NG_008667.1:g.32764_32765insCTGGGAGATGTTGGCATAAGACTCGGGACCCACATAGGTCTGGGA

Select item 149105731613.

rs1491057316 has merged into rs59223444 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:88846519 (GRCh38)
16:88912927 (GRCh37)
Canonical SPDI:: NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88846509:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GALNS (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.88846519_88846533del, NC_000016.10:g.88846521_88846533del, NC_000016.10:g.88846522_88846533del, NC_000016.10:g.88846523_88846533del, NC_000016.10:g.88846525_88846533del, NC_000016.10:g.88846526_88846533del, NC_000016.10:g.88846527_88846533del, NC_000016.10:g.88846528_88846533del, NC_000016.10:g.88846529_88846533del, NC_000016.10:g.88846530_88846533del, NC_000016.10:g.88846531_88846533del, NC_000016.10:g.88846532_88846533del, NC_000016.10:g.88846533del, NC_000016.10:g.88846533dup, NC_000016.10:g.88846532_88846533dup, NC_000016.10:g.88846531_88846533dup, NC_000016.10:g.88846530_88846533dup, NC_000016.10:g.88846529_88846533dup, NC_000016.10:g.88846528_88846533dup, NC_000016.10:g.88846527_88846533dup, NC_000016.10:g.88846526_88846533dup, NC_000016.10:g.88846525_88846533dup, NC_000016.10:g.88846519_88846533dup, NC_000016.9:g.88912927_88912941del, NC_000016.9:g.88912929_88912941del, NC_000016.9:g.88912930_88912941del, NC_000016.9:g.88912931_88912941del, NC_000016.9:g.88912933_88912941del, NC_000016.9:g.88912934_88912941del, NC_000016.9:g.88912935_88912941del, NC_000016.9:g.88912936_88912941del, NC_000016.9:g.88912937_88912941del, NC_000016.9:g.88912938_88912941del, NC_000016.9:g.88912939_88912941del, NC_000016.9:g.88912940_88912941del, NC_000016.9:g.88912941del, NC_000016.9:g.88912941dup, NC_000016.9:g.88912940_88912941dup, NC_000016.9:g.88912939_88912941dup, NC_000016.9:g.88912938_88912941dup, NC_000016.9:g.88912937_88912941dup, NC_000016.9:g.88912936_88912941dup, NC_000016.9:g.88912935_88912941dup, NC_000016.9:g.88912934_88912941dup, NC_000016.9:g.88912933_88912941dup, NC_000016.9:g.88912927_88912941dup, NG_008667.1:g.15443_15457del, NG_008667.1:g.15445_15457del, NG_008667.1:g.15446_15457del, NG_008667.1:g.15447_15457del, NG_008667.1:g.15449_15457del, NG_008667.1:g.15450_15457del, NG_008667.1:g.15451_15457del, NG_008667.1:g.15452_15457del, NG_008667.1:g.15453_15457del, NG_008667.1:g.15454_15457del, NG_008667.1:g.15455_15457del, NG_008667.1:g.15456_15457del, NG_008667.1:g.15457del, NG_008667.1:g.15457dup, NG_008667.1:g.15456_15457dup, NG_008667.1:g.15455_15457dup, NG_008667.1:g.15454_15457dup, NG_008667.1:g.15453_15457dup, NG_008667.1:g.15452_15457dup, NG_008667.1:g.15451_15457dup, NG_008667.1:g.15450_15457dup, NG_008667.1:g.15449_15457dup, NG_008667.1:g.15443_15457dup

Select item 149101432114.

rs1491014321 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 16:88830256 (GRCh38)
16:88896664 (GRCh37)
Canonical SPDI:: NC_000016.10:88830255:AC:
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004384/52 (ALFA)
-=0.004271/588 (GnomAD)
-=0.009879/18 (Korea1K)
HGVS:: NC_000016.10:g.88830256_88830257del, NC_000016.9:g.88896664_88896665del, NG_008667.1:g.31710_31711del

Select item 149099095415.

rs1490990954 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 16:88830575 (GRCh38)
16:88896983 (GRCh37)
Canonical SPDI:: NC_000016.10:88830574:A:
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000079/21 (TOPMED)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000016.10:g.88830575del, NC_000016.9:g.88896983del, NG_008667.1:g.31392del

Select item 149096166816.

rs1490961668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88829962 (GRCh38)
16:88896370 (GRCh37)
Canonical SPDI:: NC_000016.10:88829961:G:A
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.88829962G>A, NC_000016.9:g.88896370G>A, NG_008667.1:g.32005C>T

Select item 149088778617.

rs1490887786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:88852031 (GRCh38)
16:88918439 (GRCh37)
Canonical SPDI:: NC_000016.10:88852030:T:C
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.88852031T>C, NC_000016.9:g.88918439T>C, NG_008667.1:g.9936A>G

Select item 149084308718.

rs1490843087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:88849466 (GRCh38)
16:88915874 (GRCh37)
Canonical SPDI:: NC_000016.10:88849465:T:A
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.88849466T>A, NC_000016.9:g.88915874T>A, NG_008667.1:g.12501A>T

Select item 149083639719.

rs1490836397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88816712 (GRCh38)
16:88883120 (GRCh37)
Canonical SPDI:: NC_000016.10:88816711:C:T
Gene:: GALNS (Varview)
Functional Consequence:: 3_prime_UTR_variant,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_000016.10:g.88816712C>T, NC_000016.9:g.88883120C>T, NG_008667.1:g.45255G>A, NG_008013.1:g.223G>A, XM_005256301.4:c.*460G>A, XM_005256301.3:c.*460G>A, XM_005256301.2:c.*460G>A, XM_005256301.1:c.*460G>A, XM_017023112.3:c.*718G>A, XM_017023112.2:c.*718G>A, XM_017023112.1:c.*718G>A, XM_011522982.3:c.*460G>A, XM_011522982.2:c.*460G>A, XM_011522982.1:c.*460G>A, XM_017023113.2:c.*460G>A, XM_017023113.1:c.*460G>A, XM_047433892.1:c.*460G>A, XM_047433890.1:c.*718G>A, XM_047433891.1:c.*718G>A

Select item 149072858920.

rs1490728589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:88834994 (GRCh38)
16:88901402 (GRCh37)
Canonical SPDI:: NC_000016.10:88834993:T:G
Gene:: GALNS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.88834994T>G, NC_000016.9:g.88901402T>G, NG_008667.1:g.26973A>C

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