SNP Links for Gene (Select 81888) - SNP

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Select item 14910335201.

rs1491033520 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:43455976 (GRCh38)
1:43921647 (GRCh37)
Canonical SPDI:: NC_000001.11:43455975:GC:
Gene:: HYI-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.10034/448 (ALFA)
-=0.00081/14 (TOMMO)
-=0.00218/4 (Korea1K)
HGVS:: NC_000001.11:g.43455976_43455977del, NC_000001.10:g.43921647_43921648del, NG_029091.1:g.71092_71093del

Select item 14903740842.

rs1490374084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43453773 (GRCh38)
1:43919444 (GRCh37)
Canonical SPDI:: NC_000001.11:43453772:G:A
Gene:: SZT2 (Varview), HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.43453773G>A, NC_000001.10:g.43919444G>A, NG_029091.1:g.68889G>A, NM_015284.4:c.*3293G>A, NM_015284.3:c.*3293G>A, NM_001365999.1:c.*3293G>A, NM_031207.6:c.21C>T, NM_031207.5:c.21C>T, XM_006710937.4:c.21C>T, XM_006710937.3:c.21C>T, XM_006710937.2:c.21C>T, XM_006710937.1:c.21C>T, NM_001190880.3:c.21C>T, NM_001190880.2:c.21C>T, NM_001330526.2:c.21C>T, NM_001330526.1:c.21C>T, NM_001243526.2:c.21C>T, NM_001243526.1:c.21C>T, XM_047431340.1:c.21C>T, XM_047431342.1:c.21C>T, NM_001174052.1:c.21C>T

Select item 14893752713.

rs1489375271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43454718 (GRCh38)
1:43920389 (GRCh37)
Canonical SPDI:: NC_000001.11:43454717:C:T
Gene:: SZT2 (Varview), HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.43454718C>T, NC_000001.10:g.43920389C>T, NG_029091.1:g.69834C>T

Select item 14887071204.

rs1488707120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:43450577 (GRCh38)
1:43916248 (GRCh37)
Canonical SPDI:: NC_000001.11:43450576:A:T
Gene:: SZT2 (Varview), HYI (Varview), SZT2-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_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.43450577A>T, NC_000001.10:g.43916248A>T, NG_029091.1:g.65693A>T, NM_015284.4:c.*97A>T, NM_015284.3:c.*97A>T, NM_001365999.1:c.*97A>T, NM_024547.1:c.*97A>T

Select item 14886958385.

rs1488695838 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGA>- [Show Flanks]
Chromosome:: 1:43453223 (GRCh38)
1:43918894 (GRCh37)
Canonical SPDI:: NC_000001.11:43453219:AGACAGA:AGA
Gene:: SZT2 (Varview), HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000001.11:g.43453223_43453226del, NC_000001.10:g.43918894_43918897del, NG_029091.1:g.68339_68342del, NM_015284.4:c.*2743_*2746del, NM_015284.3:c.*2743_*2746del, NM_001365999.1:c.*2743_*2746del

Select item 14884145496.

rs1488414549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:43456181 (GRCh38)
1:43921852 (GRCh37)
Canonical SPDI:: NC_000001.11:43456180:A:T
Gene:: HYI-AS1 (Varview)
Functional Consequence:: 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_000001.11:g.43456181A>T, NC_000001.10:g.43921852A>T, NG_029091.1:g.71297A>T

Select item 14877275177.

rs1487727517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:43451849 (GRCh38)
1:43917520 (GRCh37)
Canonical SPDI:: NC_000001.11:43451848:T:C,NC_000001.11:43451848:T:G
Gene:: SZT2 (Varview), HYI (Varview)
Functional Consequence:: splice_acceptor_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43451849T>C, NC_000001.11:g.43451849T>G, NC_000001.10:g.43917520T>C, NC_000001.10:g.43917520T>G, NG_029091.1:g.66965T>C, NG_029091.1:g.66965T>G, NM_015284.4:c.*1369T>C, NM_015284.4:c.*1369T>G, NM_015284.3:c.*1369T>C, NM_015284.3:c.*1369T>G, NM_001365999.1:c.*1369T>C, NM_001365999.1:c.*1369T>G

Select item 14869897458.

rs1486989745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:43452351 (GRCh38)
1:43918022 (GRCh37)
Canonical SPDI:: NC_000001.11:43452350:C:A,NC_000001.11:43452350:C:G,NC_000001.11:43452350:C:T
Gene:: SZT2 (Varview), HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43452351C>A, NC_000001.11:g.43452351C>G, NC_000001.11:g.43452351C>T, NC_000001.10:g.43918022C>A, NC_000001.10:g.43918022C>G, NC_000001.10:g.43918022C>T, NG_029091.1:g.67467C>A, NG_029091.1:g.67467C>G, NG_029091.1:g.67467C>T, NM_015284.4:c.*1871C>A, NM_015284.4:c.*1871C>G, NM_015284.4:c.*1871C>T, NM_015284.3:c.*1871C>A, NM_015284.3:c.*1871C>G, NM_015284.3:c.*1871C>T, NM_001365999.1:c.*1871C>A, NM_001365999.1:c.*1871C>G, NM_001365999.1:c.*1871C>T

Select item 14869653669.

rs1486965366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:43454873 (GRCh38)
1:43920544 (GRCh37)
Canonical SPDI:: NC_000001.11:43454872:A:G
Gene:: HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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.43454873A>G, NC_000001.10:g.43920544A>G, NG_029091.1:g.69989A>G

Select item 148696080110.

rs1486960801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:43454228 (GRCh38)
1:43919899 (GRCh37)
Canonical SPDI:: NC_000001.11:43454227:G:T
Gene:: SZT2 (Varview), HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.43454228G>T, NC_000001.10:g.43919899G>T, NG_029091.1:g.69344G>T, NM_015284.4:c.*3748G>T, NM_015284.3:c.*3748G>T, NM_001365999.1:c.*3748G>T

Select item 148602685411.

rs1486026854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:43455368 (GRCh38)
1:43921039 (GRCh37)
Canonical SPDI:: NC_000001.11:43455367:T:G
Gene:: HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43455368T>G, NC_000001.10:g.43921039T>G, NG_029091.1:g.70484T>G

Select item 148598013612.

rs1485980136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:43454637 (GRCh38)
1:43920308 (GRCh37)
Canonical SPDI:: NC_000001.11:43454636:G:T
Gene:: SZT2 (Varview), HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000991/17 (TOMMO)
HGVS:: NC_000001.11:g.43454637G>T, NC_000001.10:g.43920308G>T, NG_029091.1:g.69753G>T

Select item 148590656113.

rs1485906561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:43455782 (GRCh38)
1:43921453 (GRCh37)
Canonical SPDI:: NC_000001.11:43455781:C:G,NC_000001.11:43455781:C:T
Gene:: HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.43455782C>G, NC_000001.11:g.43455782C>T, NC_000001.10:g.43921453C>G, NC_000001.10:g.43921453C>T, NG_029091.1:g.70898C>G, NG_029091.1:g.70898C>T

Select item 148576053914.

rs1485760539 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:43451365 (GRCh38)
1:43917036 (GRCh37)
Canonical SPDI:: NC_000001.11:43451364:T:
Gene:: SZT2 (Varview), HYI (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43451365del, NC_000001.10:g.43917036del, NG_029091.1:g.66481del, NM_015284.4:c.*885del, NM_015284.3:c.*885del, NM_001365999.1:c.*885del

Select item 148532102715.

rs1485321027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43453888 (GRCh38)
1:43919559 (GRCh37)
Canonical SPDI:: NC_000001.11:43453887:G:A
Gene:: SZT2 (Varview), HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.43453888G>A, NC_000001.10:g.43919559G>A, NG_029091.1:g.69004G>A, NM_015284.4:c.*3408G>A, NM_015284.3:c.*3408G>A, NM_001365999.1:c.*3408G>A, NM_031207.6:c.-95C>T, NM_031207.5:c.-95C>T, XM_006710937.4:c.-95C>T, XM_006710937.3:c.-95C>T, XM_006710937.2:c.-95C>T, XM_006710937.1:c.-95C>T, NM_001190880.3:c.-95C>T, NM_001190880.2:c.-95C>T, NM_001330526.2:c.-95C>T, NM_001330526.1:c.-95C>T, NM_001243526.2:c.-95C>T, NM_001243526.1:c.-95C>T, XM_047431340.1:c.-95C>T, XM_047431342.1:c.-95C>T, NM_001174052.1:c.-95C>T

Select item 148473259116.

rs1484732591 has merged into rs1218514016 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG [Show Flanks]
Chromosome:: 1:43453979 (GRCh38)
1:43919650 (GRCh37)
Canonical SPDI:: NC_000001.11:43453975:GAGAGAG:GAG,NC_000001.11:43453975:GAGAGAG:GAGAG
Gene:: SZT2 (Varview), HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
HGVS:: NC_000001.11:g.43453977AG[1], NC_000001.11:g.43453977AG[2], NC_000001.10:g.43919648AG[1], NC_000001.10:g.43919648AG[2], NG_029091.1:g.69093AG[1], NG_029091.1:g.69093AG[2], NM_015284.4:c.*3497AG[1], NM_015284.4:c.*3497AG[2], NM_015284.3:c.*3497AG[1], NM_015284.3:c.*3497AG[2], NM_001365999.1:c.*3497AG[1], NM_001365999.1:c.*3497AG[2], NM_031207.5:c.-188TC[1], NM_031207.5:c.-188TC[2], NM_001190880.2:c.-188TC[1], NM_001190880.2:c.-188TC[2], NM_001330526.1:c.-188TC[1], NM_001330526.1:c.-188TC[2], NM_001243526.1:c.-188TC[1], NM_001243526.1:c.-188TC[2], NM_001174052.1:c.-188TC[1], NM_001174052.1:c.-188TC[2], NR_174945.1:n.51AG[1], NR_174945.1:n.51AG[2]

Select item 148423422517.

rs1484234225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:43453714 (GRCh38)
1:43919385 (GRCh37)
Canonical SPDI:: NC_000001.11:43453713:G:T
Gene:: SZT2 (Varview), HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,2KB_upstream_variant,missense_variant
HGVS:: NC_000001.11:g.43453714G>T, NC_000001.10:g.43919385G>T, NG_029091.1:g.68830G>T, NM_015284.4:c.*3234G>T, NM_015284.3:c.*3234G>T, NM_001365999.1:c.*3234G>T, NM_031207.6:c.80C>A, NM_031207.5:c.80C>A, XM_006710937.4:c.80C>A, XM_006710937.3:c.80C>A, XM_006710937.2:c.80C>A, XM_006710937.1:c.80C>A, NM_001190880.3:c.80C>A, NM_001190880.2:c.80C>A, NM_001330526.2:c.80C>A, NM_001330526.1:c.80C>A, NM_001243526.2:c.80C>A, NM_001243526.1:c.80C>A, XM_047431340.1:c.80C>A, XM_047431342.1:c.80C>A, NM_001174052.1:c.80C>A, NP_112484.3:p.Ala27Glu, XP_006711000.1:p.Ala27Glu, NP_001177809.1:p.Ala27Glu, NP_001317455.1:p.Ala27Glu, NP_001230455.1:p.Ala27Glu, XP_047287296.1:p.Ala27Glu, XP_047287298.1:p.Ala27Glu

Select item 148418329518.

rs1484183295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43452980 (GRCh38)
1:43918651 (GRCh37)
Canonical SPDI:: NC_000001.11:43452979:C:T
Gene:: SZT2 (Varview), HYI (Varview), HYI-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43452980C>T, NC_000001.10:g.43918651C>T, NG_029091.1:g.68096C>T, NM_015284.4:c.*2500C>T, NM_015284.3:c.*2500C>T, NM_001365999.1:c.*2500C>T, XM_006710937.4:c.309G>A, XM_006710937.3:c.309G>A, XM_006710937.2:c.309G>A, XM_006710937.1:c.309G>A, NM_001330526.2:c.309G>A, NM_001330526.1:c.309G>A, NM_001243526.2:c.309G>A, NM_001243526.1:c.309G>A

Select item 148380938119.

rs1483809381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:43450515 (GRCh38)
1:43916186 (GRCh37)
Canonical SPDI:: NC_000001.11:43450514:T:C
Gene:: SZT2 (Varview), HYI (Varview), SZT2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
HGVS:: NC_000001.11:g.43450515T>C, NC_000001.10:g.43916186T>C, NG_029091.1:g.65631T>C, NM_015284.4:c.*35T>C, NM_015284.3:c.*35T>C, NM_001365999.1:c.*35T>C, NM_024547.1:c.*35T>C

Select item 148316978120.

rs1483169781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43450186 (GRCh38)
1:43915857 (GRCh37)
Canonical SPDI:: NC_000001.11:43450185:G:A
Gene:: SZT2 (Varview), HYI (Varview), SZT2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43450186G>A, NC_000001.10:g.43915857G>A, NG_029091.1:g.65302G>A

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