SNP Links for Gene (Select 100130302) - SNP

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Select item 14906863031.

rs1490686303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:24366613 (GRCh38)
X:24384730 (GRCh37)
Canonical SPDI:: NC_000023.11:24366612:A:C
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.24366613A>C, NC_000023.10:g.24384730A>C, NM_001136234.3:c.*1189A>C, NM_001136234.2:c.*1189A>C

Select item 14905354722.

rs1490535472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:24365515 (GRCh38)
X:24383632 (GRCh37)
Canonical SPDI:: NC_000023.11:24365514:A:G,NC_000023.11:24365514:A:T
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000726/11 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.24365515A>G, NC_000023.11:g.24365515A>T, NC_000023.10:g.24383632A>G, NC_000023.10:g.24383632A>T, NM_001136234.3:c.*91A>G, NM_001136234.3:c.*91A>T, NM_001136234.2:c.*91A>G, NM_001136234.2:c.*91A>T

Select item 14903730853.

rs1490373085 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:24367345 (GRCh38)
X:24385462 (GRCh37)
Canonical SPDI:: NC_000023.11:24367344:A:
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.24367345del, NC_000023.10:g.24385462del, NM_001136234.3:c.*1921del, NM_001136234.2:c.*1921del

Select item 14900994454.

rs1490099445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:24364043 (GRCh38)
X:24382160 (GRCh37)
Canonical SPDI:: NC_000023.11:24364042:G:C
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.24364043G>C, NC_000023.10:g.24382160G>C, NM_001136234.3:c.1283G>C, NM_001136234.2:c.1361G>C, NM_001136234.1:c.1283G>C, NP_001129706.3:p.Gly428Ala

Select item 14893090415.

rs1489309041 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:24364281 (GRCh38)
X:24382398 (GRCh37)
Canonical SPDI:: NC_000023.11:24364280:T:C,NC_000023.11:24364280:T:G
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.24364281T>C, NC_000023.11:g.24364281T>G, NC_000023.10:g.24382398T>C, NC_000023.10:g.24382398T>G, NM_001136234.3:c.1521T>C, NM_001136234.3:c.1521T>G, NM_001136234.2:c.1599T>C, NM_001136234.2:c.1599T>G, NM_001136234.1:c.1521T>C, NM_001136234.1:c.1521T>G

Select item 14884749456.

rs1488474945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:24368318 (GRCh38)
X:24386435 (GRCh37)
Canonical SPDI:: NC_000023.11:24368317:A:T
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.24368318A>T, NC_000023.10:g.24386435A>T

Select item 14882025597.

rs1488202559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:24366591 (GRCh38)
X:24384708 (GRCh37)
Canonical SPDI:: NC_000023.11:24366590:T:C
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.24366591T>C, NC_000023.10:g.24384708T>C, NM_001136234.3:c.*1167T>C, NM_001136234.2:c.*1167T>C

Select item 14877119368.

rs1487711936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:24364404 (GRCh38)
X:24382521 (GRCh37)
Canonical SPDI:: NC_000023.11:24364403:T:A
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.24364404T>A, NC_000023.10:g.24382521T>A, NM_001136234.3:c.1644T>A, NM_001136234.2:c.1722T>A, NM_001136234.1:c.1644T>A

Select item 14874766159.

rs1487476615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:24361746 (GRCh38)
X:24379863 (GRCh37)
Canonical SPDI:: NC_000023.11:24361745:C:A
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.24361746C>A, NC_000023.10:g.24379863C>A, NM_001136234.3:c.-1015C>A

Select item 148735701310.

rs1487357013 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAG>- [Show Flanks]
Chromosome:: X:24368077 (GRCh38)
X:24386194 (GRCh37)
Canonical SPDI:: NC_000023.11:24368074:AGCAG:AG
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.24368077_24368079del, NC_000023.10:g.24386194_24386196del

Select item 148734423611.

rs1487344236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:24362815 (GRCh38)
X:24380932 (GRCh37)
Canonical SPDI:: NC_000023.11:24362814:G:T
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.24362815G>T, NC_000023.10:g.24380932G>T, NM_001136234.3:c.55G>T, NM_001136234.2:c.133G>T, NM_001136234.1:c.55G>T, NP_001129706.3:p.Ala19Ser

Select item 148604174412.

rs1486041744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:24364933 (GRCh38)
X:24383050 (GRCh37)
Canonical SPDI:: NC_000023.11:24364932:C:T
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.24364933C>T, NC_000023.10:g.24383050C>T, NM_001136234.3:c.2173C>T, NM_001136234.2:c.2251C>T, NM_001136234.1:c.2173C>T, NP_001129706.3:p.Pro725Ser

Select item 148600496313.

rs1486004963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:24361605 (GRCh38)
X:24379722 (GRCh37)
Canonical SPDI:: NC_000023.11:24361604:C:T
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.24361605C>T, NC_000023.10:g.24379722C>T, NM_001136234.3:c.-1156C>T

Select item 148575141114.

rs1485751411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:24363666 (GRCh38)
X:24381783 (GRCh37)
Canonical SPDI:: NC_000023.11:24363665:G:C
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.24363666G>C, NC_000023.10:g.24381783G>C, NM_001136234.3:c.906G>C, NM_001136234.2:c.984G>C, NM_001136234.1:c.906G>C

Select item 148537049115.

rs1485370491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:24365607 (GRCh38)
X:24383724 (GRCh37)
Canonical SPDI:: NC_000023.11:24365606:A:G
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.24365607A>G, NC_000023.10:g.24383724A>G, NM_001136234.3:c.*183A>G, NM_001136234.2:c.*183A>G

Select item 148520156916.

rs1485201569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:24368317 (GRCh38)
X:24386434 (GRCh37)
Canonical SPDI:: NC_000023.11:24368316:T:A
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.24368317T>A, NC_000023.10:g.24386434T>A

Select item 148479591417.

rs1484795914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:24360710 (GRCh38)
X:24378827 (GRCh37)
Canonical SPDI:: NC_000023.11:24360709:A:C,NC_000023.11:24360709:A:G
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.24360710A>C, NC_000023.11:g.24360710A>G, NC_000023.10:g.24378827A>C, NC_000023.10:g.24378827A>G, NM_001136234.3:c.-2051A>C, NM_001136234.3:c.-2051A>G

Select item 148452190218.

rs1484521902 has merged into rs1329240040 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGCTGCT>-,GCTGCT,GCTGCTGCTGCT [Show Flanks]
Chromosome:: X:24364357 (GRCh38)
X:24382474 (GRCh37)
Canonical SPDI:: NC_000023.11:24364350:GCTGCTGCTGCTGCT:GCTGCT,NC_000023.11:24364350:GCTGCTGCTGCTGCT:GCTGCTGCTGCT,NC_000023.11:24364350:GCTGCTGCTGCTGCT:GCTGCTGCTGCTGCTGCT
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GCTGCTGCTGCTGCTGCT=0./0 (ALFA)
-=0.000009/1 (GnomAD_exomes)
GCT=0.000013/1 (GnomAD)
HGVS:: NC_000023.11:g.24364351GCT[2], NC_000023.11:g.24364351GCT[4], NC_000023.11:g.24364351GCT[6], NC_000023.10:g.24382468GCT[2], NC_000023.10:g.24382468GCT[4], NC_000023.10:g.24382468GCT[6], NM_001136234.3:c.1591GCT[2], NM_001136234.3:c.1591GCT[4], NM_001136234.3:c.1591GCT[6], NM_001136234.2:c.1669GCT[2], NM_001136234.2:c.1669GCT[4], NM_001136234.2:c.1669GCT[6], NM_001136234.1:c.1591GCT[2], NM_001136234.1:c.1591GCT[4], NM_001136234.1:c.1591GCT[6], NP_001129706.3:p.Ala533_Ala535del, NP_001129706.3:p.Ala535del, NP_001129706.3:p.Ala535dup

Select item 148441280719.

rs1484412807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:24367842 (GRCh38)
X:24385959 (GRCh37)
Canonical SPDI:: NC_000023.11:24367841:A:G
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.24367842A>G, NC_000023.10:g.24385959A>G, NM_001136234.2:c.*2418A>G

Select item 148418793420.

rs1484187934 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:24364356 (GRCh38)
X:24382473 (GRCh37)
Canonical SPDI:: NC_000023.11:24364355:T:C
Gene:: SUPT20HL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.24364356T>C, NC_000023.10:g.24382473T>C, NM_001136234.3:c.1596T>C, NM_001136234.2:c.1674T>C, NM_001136234.1:c.1596T>C

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