SNP Links for Gene (Select 92344) - SNP

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Select item 14913822381.

rs1491382238 has merged into rs58613910 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:170531501 (GRCh38)
1:170500642 (GRCh37)
Canonical SPDI:: NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170531488:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GORAB (Varview), GORAB-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.0703/352 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000001.11:g.170531501_170531508del, NC_000001.11:g.170531502_170531508del, NC_000001.11:g.170531504_170531508del, NC_000001.11:g.170531505_170531508del, NC_000001.11:g.170531506_170531508del, NC_000001.11:g.170531507_170531508del, NC_000001.11:g.170531508del, NC_000001.11:g.170531508dup, NC_000001.11:g.170531507_170531508dup, NC_000001.11:g.170531506_170531508dup, NC_000001.11:g.170531505_170531508dup, NC_000001.11:g.170531499_170531508dup, NC_000001.11:g.170531489_170531508A[23]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.170531489_170531508A[20]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.170500642_170500649del, NC_000001.10:g.170500643_170500649del, NC_000001.10:g.170500645_170500649del, NC_000001.10:g.170500646_170500649del, NC_000001.10:g.170500647_170500649del, NC_000001.10:g.170500648_170500649del, NC_000001.10:g.170500649del, NC_000001.10:g.170500649dup, NC_000001.10:g.170500648_170500649dup, NC_000001.10:g.170500647_170500649dup, NC_000001.10:g.170500646_170500649dup, NC_000001.10:g.170500640_170500649dup, NC_000001.10:g.170500630_170500649A[23]GAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.170500630_170500649A[20]TAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012237.1:g.4380_4387del, NG_012237.1:g.4381_4387del, NG_012237.1:g.4383_4387del, NG_012237.1:g.4384_4387del, NG_012237.1:g.4385_4387del, NG_012237.1:g.4386_4387del, NG_012237.1:g.4387del, NG_012237.1:g.4387dup, NG_012237.1:g.4386_4387dup, NG_012237.1:g.4385_4387dup, NG_012237.1:g.4384_4387dup, NG_012237.1:g.4378_4387dup, NG_012237.1:g.4368_4387A[23]GAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012237.1:g.4368_4387A[20]TAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14912958612.

rs1491295861 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:170541226 (GRCh38)
1:170510367 (GRCh37)
Canonical SPDI:: NC_000001.11:170541225:AG:
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.170541226_170541227del, NC_000001.10:g.170510367_170510368del, NG_012237.1:g.14105_14106del

Select item 14910794253.

rs1491079425 has merged into rs67384213 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:170541213 (GRCh38)
1:170510354 (GRCh37)
Canonical SPDI:: NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:170541203:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.051118/256 (1000Genomes)
HGVS:: NC_000001.11:g.170541213_170541226del, NC_000001.11:g.170541214_170541226del, NC_000001.11:g.170541215_170541226del, NC_000001.11:g.170541216_170541226del, NC_000001.11:g.170541217_170541226del, NC_000001.11:g.170541218_170541226del, NC_000001.11:g.170541219_170541226del, NC_000001.11:g.170541220_170541226del, NC_000001.11:g.170541221_170541226del, NC_000001.11:g.170541222_170541226del, NC_000001.11:g.170541223_170541226del, NC_000001.11:g.170541224_170541226del, NC_000001.11:g.170541225_170541226del, NC_000001.11:g.170541226del, NC_000001.11:g.170541226dup, NC_000001.11:g.170541225_170541226dup, NC_000001.11:g.170541224_170541226dup, NC_000001.11:g.170541223_170541226dup, NC_000001.11:g.170541222_170541226dup, NC_000001.11:g.170541221_170541226dup, NC_000001.11:g.170541220_170541226dup, NC_000001.11:g.170541219_170541226dup, NC_000001.11:g.170541218_170541226dup, NC_000001.11:g.170541217_170541226dup, NC_000001.10:g.170510354_170510367del, NC_000001.10:g.170510355_170510367del, NC_000001.10:g.170510356_170510367del, NC_000001.10:g.170510357_170510367del, NC_000001.10:g.170510358_170510367del, NC_000001.10:g.170510359_170510367del, NC_000001.10:g.170510360_170510367del, NC_000001.10:g.170510361_170510367del, NC_000001.10:g.170510362_170510367del, NC_000001.10:g.170510363_170510367del, NC_000001.10:g.170510364_170510367del, NC_000001.10:g.170510365_170510367del, NC_000001.10:g.170510366_170510367del, NC_000001.10:g.170510367del, NC_000001.10:g.170510367dup, NC_000001.10:g.170510366_170510367dup, NC_000001.10:g.170510365_170510367dup, NC_000001.10:g.170510364_170510367dup, NC_000001.10:g.170510363_170510367dup, NC_000001.10:g.170510362_170510367dup, NC_000001.10:g.170510361_170510367dup, NC_000001.10:g.170510360_170510367dup, NC_000001.10:g.170510359_170510367dup, NC_000001.10:g.170510358_170510367dup, NG_012237.1:g.14092_14105del, NG_012237.1:g.14093_14105del, NG_012237.1:g.14094_14105del, NG_012237.1:g.14095_14105del, NG_012237.1:g.14096_14105del, NG_012237.1:g.14097_14105del, NG_012237.1:g.14098_14105del, NG_012237.1:g.14099_14105del, NG_012237.1:g.14100_14105del, NG_012237.1:g.14101_14105del, NG_012237.1:g.14102_14105del, NG_012237.1:g.14103_14105del, NG_012237.1:g.14104_14105del, NG_012237.1:g.14105del, NG_012237.1:g.14105dup, NG_012237.1:g.14104_14105dup, NG_012237.1:g.14103_14105dup, NG_012237.1:g.14102_14105dup, NG_012237.1:g.14101_14105dup, NG_012237.1:g.14100_14105dup, NG_012237.1:g.14099_14105dup, NG_012237.1:g.14098_14105dup, NG_012237.1:g.14097_14105dup, NG_012237.1:g.14096_14105dup

Select item 14908271854.

rs1490827185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:170544295 (GRCh38)
1:170513436 (GRCh37)
Canonical SPDI:: NC_000001.11:170544294:A:C,NC_000001.11:170544294:A:G,NC_000001.11:170544294:A:T
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
G=0.00034/1 (KOREAN)
HGVS:: NC_000001.11:g.170544295A>C, NC_000001.11:g.170544295A>G, NC_000001.11:g.170544295A>T, NC_000001.10:g.170513436A>C, NC_000001.10:g.170513436A>G, NC_000001.10:g.170513436A>T, NG_012237.1:g.17174A>C, NG_012237.1:g.17174A>G, NG_012237.1:g.17174A>T

Select item 14907677965.

rs1490767796 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:170542432 (GRCh38)
1:170511573 (GRCh37)
Canonical SPDI:: NC_000001.11:170542431:T:C
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.170542432T>C, NC_000001.10:g.170511573T>C, NG_012237.1:g.15311T>C

Select item 14907377336.

rs1490737733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:170541433 (GRCh38)
1:170510574 (GRCh37)
Canonical SPDI:: NC_000001.11:170541432:C:G
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.170541433C>G, NC_000001.10:g.170510574C>G, NG_012237.1:g.14312C>G

Select item 14906153737.

rs1490615373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:170539495 (GRCh38)
1:170508636 (GRCh37)
Canonical SPDI:: NC_000001.11:170539494:A:G,NC_000001.11:170539494:A:T
Gene:: GORAB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.170539495A>G, NC_000001.11:g.170539495A>T, NC_000001.10:g.170508636A>G, NC_000001.10:g.170508636A>T, NG_012237.1:g.12374A>G, NG_012237.1:g.12374A>T, NM_152281.3:c.347A>G, NM_152281.3:c.347A>T, NM_152281.2:c.422A>G, NM_152281.2:c.422A>T, NM_001320252.2:c.-119A>G, NM_001320252.2:c.-119A>T, NM_001320252.1:c.-119A>G, NM_001320252.1:c.-119A>T, NR_027397.2:n.405A>G, NR_027397.2:n.405A>T, NR_027397.1:n.449A>G, NR_027397.1:n.449A>T, NM_001146039.2:c.347A>G, NM_001146039.2:c.347A>T, NM_001146039.1:c.422A>G, NM_001146039.1:c.422A>T, XM_011510149.3:c.296A>G, XM_011510149.3:c.296A>T, NM_001410894.1:c.296A>G, NM_001410894.1:c.296A>T, NP_689494.3:p.His116Arg, NP_689494.3:p.His116Leu, NP_001139511.2:p.His116Arg, NP_001139511.2:p.His116Leu, XP_011508451.2:p.His99Arg, XP_011508451.2:p.His99Leu

Select item 14906007018.

rs1490600701 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGA>- [Show Flanks]
Chromosome:: 1:170541966 (GRCh38)
1:170511107 (GRCh37)
Canonical SPDI:: NC_000001.11:170541960:AAAGAAAGA:AAAGA
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.170541962AAGA[1], NC_000001.10:g.170511103AAGA[1], NG_012237.1:g.14841AAGA[1]

Select item 14905314069.

rs1490531406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:170542262 (GRCh38)
1:170511403 (GRCh37)
Canonical SPDI:: NC_000001.11:170542261:G:A
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.170542262G>A, NC_000001.10:g.170511403G>A, NG_012237.1:g.15141G>A

Select item 149027618110.

rs1490276181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:170542941 (GRCh38)
1:170512082 (GRCh37)
Canonical SPDI:: NC_000001.11:170542940:G:A
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.170542941G>A, NC_000001.10:g.170512082G>A, NG_012237.1:g.15820G>A

Select item 149024776311.

rs1490247763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:170541944 (GRCh38)
1:170511085 (GRCh37)
Canonical SPDI:: NC_000001.11:170541943:T:C
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.170541944T>C, NC_000001.10:g.170511085T>C, NG_012237.1:g.14823T>C

Select item 149001561612.

rs1490015616 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:170545392 (GRCh38)
1:170514533 (GRCh37)
Canonical SPDI:: NC_000001.11:170545391:A:G,NC_000001.11:170545391:A:T
Gene:: GORAB (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00066/10 (ALFA)
G=0.000004/1 (TOPMED)
T=0.002009/9 (Estonian)
HGVS:: NC_000001.11:g.170545392A>G, NC_000001.11:g.170545392A>T, NC_000001.10:g.170514533A>G, NC_000001.10:g.170514533A>T, NG_012237.1:g.18271A>G, NG_012237.1:g.18271A>T, NM_001146039.2:c.*543A>G, NM_001146039.2:c.*543A>T, NM_001146039.1:c.*543A>G, NM_001146039.1:c.*543A>T

Select item 149000885113.

rs1490008851 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:170533341 (GRCh38)
1:170502483 (GRCh37)
Canonical SPDI:: NC_000001.11:170533341:TTT:TTTT
Gene:: GORAB (Varview), GORAB-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.170533344dup, NC_000001.10:g.170502485dup, NG_012237.1:g.6223dup

Select item 148971693514.

rs1489716935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:170550071 (GRCh38)
1:170519212 (GRCh37)
Canonical SPDI:: NC_000001.11:170550070:T:G
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.170550071T>G, NC_000001.10:g.170519212T>G, NG_012237.1:g.22950T>G

Select item 148960651315.

rs1489606513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:170551205 (GRCh38)
1:170520346 (GRCh37)
Canonical SPDI:: NC_000001.11:170551204:A:T
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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.170551205A>T, NC_000001.10:g.170520346A>T, NG_012237.1:g.24084A>T

Select item 148957783216.

rs1489577832 [Homo sapiens]

Variant type:: DEL
Alleles:: TGCTACT>- [Show Flanks]
Chromosome:: 1:170547420 (GRCh38)
1:170516561 (GRCh37)
Canonical SPDI:: NC_000001.11:170547419:TGCTACT:
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.170547420_170547426del, NC_000001.10:g.170516561_170516567del, NG_012237.1:g.20299_20305del

Select item 148949695717.

rs1489496957 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:170535037 (GRCh38)
1:170504178 (GRCh37)
Canonical SPDI:: NC_000001.11:170535033:TGTGT:TGT
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.170535035GT[1], NC_000001.10:g.170504176GT[1], NG_012237.1:g.7914GT[1]

Select item 148946807118.

rs1489468071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:170550416 (GRCh38)
1:170519557 (GRCh37)
Canonical SPDI:: NC_000001.11:170550415:G:A
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.170550416G>A, NC_000001.10:g.170519557G>A, NG_012237.1:g.23295G>A

Select item 148938787319.

rs1489387873 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 1:170540217 (GRCh38)
1:170509359 (GRCh37)
Canonical SPDI:: NC_000001.11:170540217:TTTTT:TTTTTTT
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
TT=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.170540221_170540222dup, NC_000001.10:g.170509362_170509363dup, NG_012237.1:g.13100_13101dup

Select item 148912945520.

rs1489129455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:170547331 (GRCh38)
1:170516472 (GRCh37)
Canonical SPDI:: NC_000001.11:170547330:C:T
Gene:: GORAB (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.170547331C>T, NC_000001.10:g.170516472C>T, NG_012237.1:g.20210C>T

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