SNP Links for Gene (Select 9905) - SNP

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Select item 14915772141.

rs1491577214 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 17:2358874 (GRCh38)
17:2262169 (GRCh37)
Canonical SPDI:: NC_000017.11:2358874:T:TGT
Gene:: SGSM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.007/83 (ALFA)
TG=0.01039/514 (GnomAD)
HGVS:: NC_000017.11:g.2358875_2358876insGT, NC_000017.10:g.2262169_2262170insGT, NG_051965.1:g.26362_26363insGT

Select item 14913325822.

rs1491332582 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:2352768 (GRCh38)
17:2256063 (GRCh37)
Canonical SPDI:: NC_000017.11:2352768::C
Gene:: SGSM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.2352768_2352769insC, NC_000017.10:g.2256062_2256063insC, NG_051965.1:g.20255_20256insC

Select item 14912789583.

rs1491278958 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 17:2342745 (GRCh38)
17:2246039 (GRCh37)
Canonical SPDI:: NC_000017.11:2342743:GGG:G
Gene:: SGSM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000009/1 (GnomAD)
HGVS:: NC_000017.11:g.2342745_2342746del, NC_000017.10:g.2246039_2246040del, NG_051965.1:g.10232_10233del

Select item 14911626434.

rs1491162643 has merged into rs71150860 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:2352774 (GRCh38)
17:2256068 (GRCh37)
Canonical SPDI:: NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SGSM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.2352774_2352795del, NC_000017.11:g.2352779_2352795del, NC_000017.11:g.2352780_2352795del, NC_000017.11:g.2352781_2352795del, NC_000017.11:g.2352782_2352795del, NC_000017.11:g.2352783_2352795del, NC_000017.11:g.2352784_2352795del, NC_000017.11:g.2352785_2352795del, NC_000017.11:g.2352786_2352795del, NC_000017.11:g.2352787_2352795del, NC_000017.11:g.2352788_2352795del, NC_000017.11:g.2352789_2352795del, NC_000017.11:g.2352790_2352795del, NC_000017.11:g.2352791_2352795del, NC_000017.11:g.2352792_2352795del, NC_000017.11:g.2352793_2352795del, NC_000017.11:g.2352794_2352795del, NC_000017.11:g.2352795del, NC_000017.11:g.2352795dup, NC_000017.11:g.2352794_2352795dup, NC_000017.11:g.2352793_2352795dup, NC_000017.11:g.2352792_2352795dup, NC_000017.11:g.2352791_2352795dup, NC_000017.11:g.2352790_2352795dup, NC_000017.11:g.2352789_2352795dup, NC_000017.11:g.2352788_2352795dup, NC_000017.11:g.2352787_2352795dup, NC_000017.11:g.2352774_2352795dup, NC_000017.10:g.2256068_2256089del, NC_000017.10:g.2256073_2256089del, NC_000017.10:g.2256074_2256089del, NC_000017.10:g.2256075_2256089del, NC_000017.10:g.2256076_2256089del, NC_000017.10:g.2256077_2256089del, NC_000017.10:g.2256078_2256089del, NC_000017.10:g.2256079_2256089del, NC_000017.10:g.2256080_2256089del, NC_000017.10:g.2256081_2256089del, NC_000017.10:g.2256082_2256089del, NC_000017.10:g.2256083_2256089del, NC_000017.10:g.2256084_2256089del, NC_000017.10:g.2256085_2256089del, NC_000017.10:g.2256086_2256089del, NC_000017.10:g.2256087_2256089del, NC_000017.10:g.2256088_2256089del, NC_000017.10:g.2256089del, NC_000017.10:g.2256089dup, NC_000017.10:g.2256088_2256089dup, NC_000017.10:g.2256087_2256089dup, NC_000017.10:g.2256086_2256089dup, NC_000017.10:g.2256085_2256089dup, NC_000017.10:g.2256084_2256089dup, NC_000017.10:g.2256083_2256089dup, NC_000017.10:g.2256082_2256089dup, NC_000017.10:g.2256081_2256089dup, NC_000017.10:g.2256068_2256089dup, NG_051965.1:g.20261_20282del, NG_051965.1:g.20266_20282del, NG_051965.1:g.20267_20282del, NG_051965.1:g.20268_20282del, NG_051965.1:g.20269_20282del, NG_051965.1:g.20270_20282del, NG_051965.1:g.20271_20282del, NG_051965.1:g.20272_20282del, NG_051965.1:g.20273_20282del, NG_051965.1:g.20274_20282del, NG_051965.1:g.20275_20282del, NG_051965.1:g.20276_20282del, NG_051965.1:g.20277_20282del, NG_051965.1:g.20278_20282del, NG_051965.1:g.20279_20282del, NG_051965.1:g.20280_20282del, NG_051965.1:g.20281_20282del, NG_051965.1:g.20282del, NG_051965.1:g.20282dup, NG_051965.1:g.20281_20282dup, NG_051965.1:g.20280_20282dup, NG_051965.1:g.20279_20282dup, NG_051965.1:g.20278_20282dup, NG_051965.1:g.20277_20282dup, NG_051965.1:g.20276_20282dup, NG_051965.1:g.20275_20282dup, NG_051965.1:g.20274_20282dup, NG_051965.1:g.20261_20282dup

Select item 14911427575.

rs1491142757 has merged into rs759581510 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:2358883 (GRCh38)
17:2262177 (GRCh37)
Canonical SPDI:: NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SGSM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTTT=0.075/3 (GENOME_DK)
HGVS:: NC_000017.11:g.2358883_2358894del, NC_000017.11:g.2358885_2358894del, NC_000017.11:g.2358886_2358894del, NC_000017.11:g.2358890_2358894del, NC_000017.11:g.2358892_2358894del, NC_000017.11:g.2358893_2358894del, NC_000017.11:g.2358894del, NC_000017.11:g.2358894dup, NC_000017.11:g.2358893_2358894dup, NC_000017.11:g.2358892_2358894dup, NC_000017.11:g.2358891_2358894dup, NC_000017.11:g.2358890_2358894dup, NC_000017.11:g.2358889_2358894dup, NC_000017.11:g.2358888_2358894dup, NC_000017.11:g.2358887_2358894dup, NC_000017.11:g.2358886_2358894dup, NC_000017.11:g.2358885_2358894dup, NC_000017.11:g.2358884_2358894dup, NC_000017.11:g.2358883_2358894dup, NC_000017.11:g.2358882_2358894dup, NC_000017.11:g.2358880_2358894dup, NC_000017.10:g.2262177_2262188del, NC_000017.10:g.2262179_2262188del, NC_000017.10:g.2262180_2262188del, NC_000017.10:g.2262184_2262188del, NC_000017.10:g.2262186_2262188del, NC_000017.10:g.2262187_2262188del, NC_000017.10:g.2262188del, NC_000017.10:g.2262188dup, NC_000017.10:g.2262187_2262188dup, NC_000017.10:g.2262186_2262188dup, NC_000017.10:g.2262185_2262188dup, NC_000017.10:g.2262184_2262188dup, NC_000017.10:g.2262183_2262188dup, NC_000017.10:g.2262182_2262188dup, NC_000017.10:g.2262181_2262188dup, NC_000017.10:g.2262180_2262188dup, NC_000017.10:g.2262179_2262188dup, NC_000017.10:g.2262178_2262188dup, NC_000017.10:g.2262177_2262188dup, NC_000017.10:g.2262176_2262188dup, NC_000017.10:g.2262174_2262188dup, NG_051965.1:g.26370_26381del, NG_051965.1:g.26372_26381del, NG_051965.1:g.26373_26381del, NG_051965.1:g.26377_26381del, NG_051965.1:g.26379_26381del, NG_051965.1:g.26380_26381del, NG_051965.1:g.26381del, NG_051965.1:g.26381dup, NG_051965.1:g.26380_26381dup, NG_051965.1:g.26379_26381dup, NG_051965.1:g.26378_26381dup, NG_051965.1:g.26377_26381dup, NG_051965.1:g.26376_26381dup, NG_051965.1:g.26375_26381dup, NG_051965.1:g.26374_26381dup, NG_051965.1:g.26373_26381dup, NG_051965.1:g.26372_26381dup, NG_051965.1:g.26371_26381dup, NG_051965.1:g.26370_26381dup, NG_051965.1:g.26369_26381dup, NG_051965.1:g.26367_26381dup

Select item 14910228146.

rs1491022814 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGAAGGGACCCCATATCTTAGAATGGTGGAATTGGGGTGTAAGGGTT [Show Flanks]
Chromosome:: 17:2356926 (GRCh38)
17:2260221 (GRCh37)
Canonical SPDI:: NC_000017.11:2356926:GGGGAAGGGACCCCATATCTTAGAATGGTGGAATTGGGGTGTAAGGGTT:GGGGAAGGGACCCCATATCTTAGAATGGTGGAATTGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATTGGGGTGTAAGGGTT
Gene:: SGSM2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.2356927_2356975dup, NC_000017.10:g.2260221_2260269dup, NG_051965.1:g.24414_24462dup

Select item 14910040827.

rs1491004082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:2369436 (GRCh38)
17:2272730 (GRCh37)
Canonical SPDI:: NC_000017.11:2369435:T:G
Gene:: SGSM2 (Varview), LOC101927864 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000057/15 (TOPMED)
HGVS:: NC_000017.11:g.2369436T>G, NC_000017.10:g.2272730T>G, NG_051965.1:g.36923T>G

Select item 14908700368.

rs1490870036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:2341709 (GRCh38)
17:2245003 (GRCh37)
Canonical SPDI:: NC_000017.11:2341708:A:G
Gene:: SGSM2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.2341709A>G, NC_000017.10:g.2245003A>G, NG_051965.1:g.9196A>G, XM_011524104.3:c.-343A>G, XM_011524104.2:c.-343A>G

Select item 14908271389.

rs1490827138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:2337923 (GRCh38)
17:2241217 (GRCh37)
Canonical SPDI:: NC_000017.11:2337922:C:G,NC_000017.11:2337922:C:T
Gene:: SGSM2 (Varview), TSR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.2337923C>G, NC_000017.11:g.2337923C>T, NC_000017.10:g.2241217C>G, NC_000017.10:g.2241217C>T, NG_051965.1:g.5410C>G, NG_051965.1:g.5410C>T

Select item 149081268710.

rs1490812687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:2371251 (GRCh38)
17:2274545 (GRCh37)
Canonical SPDI:: NC_000017.11:2371250:C:A,NC_000017.11:2371250:C:T
Gene:: SGSM2 (Varview), LOC101927864 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2371251C>A, NC_000017.11:g.2371251C>T, NC_000017.10:g.2274545C>A, NC_000017.10:g.2274545C>T, NG_051965.1:g.38738C>A, NG_051965.1:g.38738C>T, XR_007065577.1:n.405G>T, XR_007065577.1:n.405G>A

Select item 149076163611.

rs1490761636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2365201 (GRCh38)
17:2268495 (GRCh37)
Canonical SPDI:: NC_000017.11:2365200:C:T
Gene:: SGSM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2365201C>T, NC_000017.10:g.2268495C>T, NG_051965.1:g.32688C>T

Select item 149060628512.

rs1490606285 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:2381537 (GRCh38)
17:2284831 (GRCh37)
Canonical SPDI:: NC_000017.11:2381536:T:C
Gene:: SGSM2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2381537T>C, NC_000017.10:g.2284831T>C, NG_051965.1:g.49024T>C

Select item 149051662513.

rs1490516625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:2369820 (GRCh38)
17:2273114 (GRCh37)
Canonical SPDI:: NC_000017.11:2369819:G:T
Gene:: SGSM2 (Varview), LOC101927864 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.2369820G>T, NC_000017.10:g.2273114G>T, NG_051965.1:g.37307G>T

Select item 149047163914.

rs1490471639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:2375278 (GRCh38)
17:2278572 (GRCh37)
Canonical SPDI:: NC_000017.11:2375277:A:C
Gene:: SGSM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000017.11:g.2375278A>C, NC_000017.10:g.2278572A>C, NG_051965.1:g.42765A>C

Select item 149046216915.

rs1490462169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:2343492 (GRCh38)
17:2246786 (GRCh37)
Canonical SPDI:: NC_000017.11:2343491:G:A,NC_000017.11:2343491:G:T
Gene:: SGSM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2343492G>A, NC_000017.11:g.2343492G>T, NC_000017.10:g.2246786G>A, NC_000017.10:g.2246786G>T, NG_051965.1:g.10979G>A, NG_051965.1:g.10979G>T

Select item 149033590816.

rs1490335908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:2338233 (GRCh38)
17:2241527 (GRCh37)
Canonical SPDI:: NC_000017.11:2338232:C:G
Gene:: SGSM2 (Varview), TSR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.2338233C>G, NC_000017.10:g.2241527C>G, NG_051965.1:g.5720C>G

Select item 149019117417.

rs1490191174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2370524 (GRCh38)
17:2273818 (GRCh37)
Canonical SPDI:: NC_000017.11:2370523:C:T
Gene:: SGSM2 (Varview), LOC101927864 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000106/2 (TOMMO)
HGVS:: NC_000017.11:g.2370524C>T, NC_000017.10:g.2273818C>T, NG_051965.1:g.38011C>T, XR_007065577.1:n.1132G>A

Select item 149016278718.

rs1490162787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2376504 (GRCh38)
17:2279798 (GRCh37)
Canonical SPDI:: NC_000017.11:2376503:C:T
Gene:: SGSM2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2376504C>T, NC_000017.10:g.2279798C>T, NG_051965.1:g.43991C>T

Select item 149007771919.

rs1490077719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2350918 (GRCh38)
17:2254212 (GRCh37)
Canonical SPDI:: NC_000017.11:2350917:G:A
Gene:: SGSM2 (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_000017.11:g.2350918G>A, NC_000017.10:g.2254212G>A, NG_051965.1:g.18405G>A

Select item 148999646620.

rs1489996466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:2372194 (GRCh38)
17:2275488 (GRCh37)
Canonical SPDI:: NC_000017.11:2372193:C:G
Gene:: SGSM2 (Varview), LOC101927864 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2372194C>G, NC_000017.10:g.2275488C>G, NG_051965.1:g.39681C>G, NM_014853.3:c.1582C>G, NM_014853.2:c.1582C>G, NM_001098509.2:c.1447C>G, NM_001098509.1:c.1447C>G, NM_001346700.2:c.1447C>G, NM_001346700.1:c.1447C>G, XM_011524102.4:c.1720C>G, XM_011524102.3:c.1720C>G, XM_011524102.2:c.1720C>G, XM_011524102.1:c.1720C>G, XM_011524101.4:c.1720C>G, XM_011524101.3:c.1720C>G, XM_011524101.2:c.1720C>G, XM_011524101.1:c.1720C>G, XM_011524103.4:c.1720C>G, XM_011524103.3:c.1720C>G, XM_011524103.2:c.1720C>G, XM_011524103.1:c.1720C>G, XM_011524105.4:c.1585C>G, XM_011524105.3:c.1585C>G, XM_011524105.2:c.1585C>G, XM_011524105.1:c.1585C>G, XM_011524107.4:c.1720C>G, XM_011524107.3:c.1720C>G, XM_011524107.2:c.1720C>G, XM_011524107.1:c.1720C>G, XM_011524104.3:c.1672C>G, XM_011524104.2:c.1672C>G, XM_011524104.1:c.1672C>G, XM_017025474.3:c.1585C>G, XM_017025474.2:c.1585C>G, XM_017025474.1:c.1585C>G, XM_017025475.3:c.1585C>G, XM_017025475.2:c.1585C>G, XM_017025475.1:c.1585C>G, XM_011524106.2:c.1582C>G, XM_011524106.1:c.1582C>G, XM_011524108.2:c.1447C>G, XM_011524108.1:c.1447C>G, XM_047437209.1:c.1720C>G, XM_047437212.1:c.1585C>G, XM_047437213.1:c.1582C>G, XM_047437214.1:c.1381C>G, XM_047437210.1:c.1447C>G, XM_047437211.1:c.1585C>G, XM_047437215.1:c.1720C>G, NP_055668.2:p.Pro528Ala, NP_001091979.1:p.Pro483Ala, NP_001333629.1:p.Pro483Ala, XP_011522404.1:p.Pro574Ala, XP_011522403.1:p.Pro574Ala, XP_011522405.1:p.Pro574Ala, XP_011522407.1:p.Pro529Ala, XP_011522409.1:p.Pro574Ala, XP_011522406.1:p.Pro558Ala, XP_016880963.1:p.Pro529Ala, XP_016880964.1:p.Pro529Ala, XP_011522408.1:p.Pro528Ala, XP_011522410.1:p.Pro483Ala, XP_047293165.1:p.Pro574Ala, XP_047293168.1:p.Pro529Ala, XP_047293169.1:p.Pro528Ala, XP_047293170.1:p.Pro461Ala, XP_047293166.1:p.Pro483Ala, XP_047293167.1:p.Pro529Ala, XP_047293171.1:p.Pro574Ala

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