SNP Links for Gene (Select 102465440) - SNP

Links from Gene

Items: 1 to 20 of 736

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Select item 14902819431.

rs1490281943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43446950 (GRCh38)
1:43912621 (GRCh37)
Canonical SPDI:: NC_000001.11:43446949:C:T
Gene:: SZT2 (Varview), MIR6735 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.43446950C>T, NC_000001.10:g.43912621C>T, NG_029091.1:g.62066C>T

Select item 14885100702.

rs1488510070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:43447442 (GRCh38)
1:43913113 (GRCh37)
Canonical SPDI:: NC_000001.11:43447441:G:C
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_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.43447442G>C, NC_000001.10:g.43913113G>C, NG_029091.1:g.62558G>C

Select item 14873107193.

rs1487310719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:43447516 (GRCh38)
1:43913187 (GRCh37)
Canonical SPDI:: NC_000001.11:43447515:T:C
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000684/2 (KOREAN)
HGVS:: NC_000001.11:g.43447516T>C, NC_000001.10:g.43913187T>C, NG_029091.1:g.62632T>C

Select item 14871985744.

rs1487198574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:43448280 (GRCh38)
1:43913951 (GRCh37)
Canonical SPDI:: NC_000001.11:43448279:G:A,NC_000001.11:43448279:G:C
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43448280G>A, NC_000001.11:g.43448280G>C, NC_000001.10:g.43913951G>A, NC_000001.10:g.43913951G>C, NG_029091.1:g.63396G>A, NG_029091.1:g.63396G>C, NM_015284.4:c.9594G>A, NM_015284.4:c.9594G>C, NM_015284.3:c.9594G>A, NM_015284.3:c.9594G>C, NM_001365999.1:c.9765G>A, NM_001365999.1:c.9765G>C, NM_024547.1:c.1206G>A, NM_024547.1:c.1206G>C, NR_046744.1:n.365C>T, NR_046744.1:n.365C>G

Select item 14860832965.

rs1486083296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:43448679 (GRCh38)
1:43914350 (GRCh37)
Canonical SPDI:: NC_000001.11:43448678:C:A
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.43448679C>A, NC_000001.10:g.43914350C>A, NG_029091.1:g.63795C>A, NM_015284.4:c.9866C>A, NM_015284.3:c.9866C>A, NM_001365999.1:c.10037C>A, NM_024547.1:c.1478C>A, NP_056099.3:p.Pro3289His, NP_001352928.1:p.Pro3346His

Select item 14844505726.

rs1484450572 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:43448196 (GRCh38)
1:43913867 (GRCh37)
Canonical SPDI:: NC_000001.11:43448195:T:C
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.43448196T>C, NC_000001.10:g.43913867T>C, NG_029091.1:g.63312T>C, NM_015284.4:c.9510T>C, NM_015284.3:c.9510T>C, NM_001365999.1:c.9681T>C, NM_024547.1:c.1122T>C, NR_046744.1:n.449A>G

Select item 14832821397.

rs1483282139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43448152 (GRCh38)
1:43913823 (GRCh37)
Canonical SPDI:: NC_000001.11:43448151:C:T
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000113/5 (ALFA)
T=0.000016/4 (GnomAD_exomes)
T=0.000038/10 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000001.11:g.43448152C>T, NC_000001.10:g.43913823C>T, NG_029091.1:g.63268C>T, NM_015284.4:c.9466C>T, NM_015284.3:c.9466C>T, NM_001365999.1:c.9637C>T, NM_024547.1:c.1078C>T, NR_046744.1:n.493G>A, NP_056099.3:p.Arg3156Trp, NP_001352928.1:p.Arg3213Trp

Select item 14829838498.

rs1482983849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43448693 (GRCh38)
1:43914364 (GRCh37)
Canonical SPDI:: NC_000001.11:43448692:C:T
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,missense_variant,upstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.43448693C>T, NC_000001.10:g.43914364C>T, NG_029091.1:g.63809C>T, NM_015284.4:c.9880C>T, NM_015284.3:c.9880C>T, NM_001365999.1:c.10051C>T, NM_024547.1:c.1492C>T, NP_056099.3:p.His3294Tyr, NP_001352928.1:p.His3351Tyr

Select item 14827148649.

rs1482714864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:43448907 (GRCh38)
1:43914578 (GRCh37)
Canonical SPDI:: NC_000001.11:43448906:C:A,NC_000001.11:43448906:C:G,NC_000001.11:43448906:C:T
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000001.11:g.43448907C>A, NC_000001.11:g.43448907C>G, NC_000001.11:g.43448907C>T, NC_000001.10:g.43914578C>A, NC_000001.10:g.43914578C>G, NC_000001.10:g.43914578C>T, NG_029091.1:g.64023C>A, NG_029091.1:g.64023C>G, NG_029091.1:g.64023C>T

Select item 148225166310.

rs1482251663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:43447906 (GRCh38)
1:43913577 (GRCh37)
Canonical SPDI:: NC_000001.11:43447905:T:C
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43447906T>C, NC_000001.10:g.43913577T>C, NG_029091.1:g.63022T>C, NM_015284.4:c.9327T>C, NM_015284.3:c.9327T>C, NM_001365999.1:c.9498T>C, NM_024547.1:c.939T>C, NR_046744.1:n.569A>G

Select item 148110734511.

rs1481107345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43448162 (GRCh38)
1:43913833 (GRCh37)
Canonical SPDI:: NC_000001.11:43448161:C:T
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.43448162C>T, NC_000001.10:g.43913833C>T, NG_029091.1:g.63278C>T, NM_015284.4:c.9476C>T, NM_015284.3:c.9476C>T, NM_001365999.1:c.9647C>T, NM_024547.1:c.1088C>T, NR_046744.1:n.483G>A, NP_056099.3:p.Pro3159Leu, NP_001352928.1:p.Pro3216Leu

Select item 147925315712.

rs1479253157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:43449096 (GRCh38)
1:43914767 (GRCh37)
Canonical SPDI:: NC_000001.11:43449095:A:G
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_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_000001.11:g.43449096A>G, NC_000001.10:g.43914767A>G, NG_029091.1:g.64212A>G

Select item 147778134113.

rs1477781341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:43447180 (GRCh38)
1:43912851 (GRCh37)
Canonical SPDI:: NC_000001.11:43447179:A:G
Gene:: SZT2 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43447180A>G, NC_000001.10:g.43912851A>G, NG_029091.1:g.62296A>G

Select item 147757184014.

rs1477571840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43447262 (GRCh38)
1:43912933 (GRCh37)
Canonical SPDI:: NC_000001.11:43447261:G:A
Gene:: SZT2 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43447262G>A, NC_000001.10:g.43912933G>A, NG_029091.1:g.62378G>A

Select item 147609083215.

rs1476090832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:43448311 (GRCh38)
1:43913982 (GRCh37)
Canonical SPDI:: NC_000001.11:43448310:G:T
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.43448311G>T, NC_000001.10:g.43913982G>T, NG_029091.1:g.63427G>T, NM_015284.4:c.9625G>T, NM_015284.3:c.9625G>T, NM_001365999.1:c.9796G>T, NM_024547.1:c.1237G>T, NR_046744.1:n.334C>A, NP_056099.3:p.Val3209Leu, NP_001352928.1:p.Val3266Leu

Select item 147605274016.

rs1476052740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:43447744 (GRCh38)
1:43913415 (GRCh37)
Canonical SPDI:: NC_000001.11:43447743:G:A,NC_000001.11:43447743:G:T
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.43447744G>A, NC_000001.11:g.43447744G>T, NC_000001.10:g.43913415G>A, NC_000001.10:g.43913415G>T, NG_029091.1:g.62860G>A, NG_029091.1:g.62860G>T

Select item 147458121417.

rs1474581214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43447972 (GRCh38)
1:43913643 (GRCh37)
Canonical SPDI:: NC_000001.11:43447971:G:A
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: upstream_transcript_variant,splice_donor_variant,2KB_upstream_variant,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.43447972G>A, NC_000001.10:g.43913643G>A, NG_029091.1:g.63088G>A

Select item 147441797318.

rs1474417973 [Homo sapiens]

Variant type:: DEL
Alleles:: GTTAATCATCTCATGTC>- [Show Flanks]
Chromosome:: 1:43447273 (GRCh38)
1:43912944 (GRCh37)
Canonical SPDI:: NC_000001.11:43447272:GTTAATCATCTCATGTC:
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43447273_43447289del, NC_000001.10:g.43912944_43912960del, NG_029091.1:g.62389_62405del

Select item 147161510519.

rs1471615105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:43448417 (GRCh38)
1:43914088 (GRCh37)
Canonical SPDI:: NC_000001.11:43448416:T:C
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.43448417T>C, NC_000001.10:g.43914088T>C, NG_029091.1:g.63533T>C, NM_015284.4:c.9731T>C, NM_015284.3:c.9731T>C, NM_001365999.1:c.9902T>C, NM_024547.1:c.1343T>C, NR_046744.1:n.228A>G, NP_056099.3:p.Leu3244Pro, NP_001352928.1:p.Leu3301Pro

Select item 147133179220.

rs1471331792 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:43447711 (GRCh38)
1:43913382 (GRCh37)
Canonical SPDI:: NC_000001.11:43447710:GGGG:GGG
Gene:: SZT2 (Varview), SZT2-AS1 (Varview), MIR6735 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43447714del, NC_000001.10:g.43913385del, NG_029091.1:g.62830del

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