SNP Links for Gene (Select 440926) - SNP

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Select item 14915052891.

rs1491505289 has merged into rs71024827 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:174720851 (GRCh38)
2:175585579 (GRCh37)
Canonical SPDI:: NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174720839:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: H3P6 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.174720851_174720853del, NC_000002.12:g.174720852_174720853del, NC_000002.12:g.174720853del, NC_000002.12:g.174720853dup, NC_000002.12:g.174720852_174720853dup, NC_000002.12:g.174720851_174720853dup, NC_000002.12:g.174720850_174720853dup, NC_000002.12:g.174720849_174720853dup, NC_000002.12:g.174720848_174720853dup, NC_000002.12:g.174720847_174720853dup, NC_000002.12:g.174720846_174720853dup, NC_000002.12:g.174720843_174720853dup, NC_000002.12:g.174720842_174720853dup, NC_000002.12:g.174720841_174720853dup, NC_000002.12:g.174720853_174720854insAAAAAAAAAAAAAAAAA, NC_000002.12:g.174720853_174720854insAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.174720853_174720854insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.175585579_175585581del, NC_000002.11:g.175585580_175585581del, NC_000002.11:g.175585581del, NC_000002.11:g.175585581dup, NC_000002.11:g.175585580_175585581dup, NC_000002.11:g.175585579_175585581dup, NC_000002.11:g.175585578_175585581dup, NC_000002.11:g.175585577_175585581dup, NC_000002.11:g.175585576_175585581dup, NC_000002.11:g.175585575_175585581dup, NC_000002.11:g.175585574_175585581dup, NC_000002.11:g.175585571_175585581dup, NC_000002.11:g.175585570_175585581dup, NC_000002.11:g.175585569_175585581dup, NC_000002.11:g.175585581_175585582insAAAAAAAAAAAAAAAAA, NC_000002.11:g.175585581_175585582insAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.175585581_175585582insAAAAAAAAAAAAAAAAAAAAAAAAA, NR_002315.1:n.1052_1054del, NR_002315.1:n.1053_1054del, NR_002315.1:n.1054del, NR_002315.1:n.1054dup, NR_002315.1:n.1053_1054dup, NR_002315.1:n.1052_1054dup, NR_002315.1:n.1051_1054dup, NR_002315.1:n.1050_1054dup, NR_002315.1:n.1049_1054dup, NR_002315.1:n.1048_1054dup, NR_002315.1:n.1047_1054dup, NR_002315.1:n.1044_1054dup, NR_002315.1:n.1043_1054dup, NR_002315.1:n.1042_1054dup, NR_002315.1:n.1054_1055insAAAAAAAAAAAAAAAAA, NR_002315.1:n.1054_1055insAAAAAAAAAAAAAAAAAAAAAA, NR_002315.1:n.1054_1055insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14888270082.

rs1488827008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:174718601 (GRCh38)
2:175583329 (GRCh37)
Canonical SPDI:: NC_000002.12:174718600:T:G
Gene:: H3P6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.174718601T>G, NC_000002.11:g.175583329T>G

Select item 14888182423.

rs1488818242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:174718473 (GRCh38)
2:175583201 (GRCh37)
Canonical SPDI:: NC_000002.12:174718472:G:T
Gene:: H3P6 (Varview)
Functional Consequence:: upstream_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_000002.12:g.174718473G>T, NC_000002.11:g.175583201G>T

Select item 14864403074.

rs1486440307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:174721104 (GRCh38)
2:175585832 (GRCh37)
Canonical SPDI:: NC_000002.12:174721103:C:G,NC_000002.12:174721103:C:T
Gene:: H3P6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.174721104C>G, NC_000002.12:g.174721104C>T, NC_000002.11:g.175585832C>G, NC_000002.11:g.175585832C>T

Select item 14863470745.

rs1486347074 has merged into rs1437308714 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 2:174720408 (GRCh38)
2:175585136 (GRCh37)
Canonical SPDI:: NC_000002.12:174720407:TTTTTTTT:TTTTTTT,NC_000002.12:174720407:TTTTTTTT:TTTTTTTTT
Gene:: H3P6 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.174720415del, NC_000002.12:g.174720415dup, NC_000002.11:g.175585143del, NC_000002.11:g.175585143dup, NR_002315.1:n.616del, NR_002315.1:n.616dup

Select item 14853684036.

rs1485368403 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 2:174720837 (GRCh38)
2:175585566 (GRCh37)
Canonical SPDI:: NC_000002.12:174720837:A:AA,NC_000002.12:174720837:A:AAA,NC_000002.12:174720837:A:AAAA,NC_000002.12:174720837:A:AAAAA,NC_000002.12:174720837:A:AAAAAA,NC_000002.12:174720837:A:AAAAAAA
Gene:: H3P6 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AAAAA=0.00032/5 (TOMMO)
HGVS:: NC_000002.12:g.174720838dup, NC_000002.12:g.174720838_174720839insAA, NC_000002.12:g.174720838_174720839insAAA, NC_000002.12:g.174720838_174720839insAAAA, NC_000002.12:g.174720838_174720839insAAAAA, NC_000002.12:g.174720838_174720839insAAAAAA, NC_000002.11:g.175585566dup, NC_000002.11:g.175585566_175585567insAA, NC_000002.11:g.175585566_175585567insAAA, NC_000002.11:g.175585566_175585567insAAAA, NC_000002.11:g.175585566_175585567insAAAAA, NC_000002.11:g.175585566_175585567insAAAAAA, NR_002315.1:n.1039dup, NR_002315.1:n.1039_1040insAA, NR_002315.1:n.1039_1040insAAA, NR_002315.1:n.1039_1040insAAAA, NR_002315.1:n.1039_1040insAAAAA, NR_002315.1:n.1039_1040insAAAAAA

Select item 14848464647.

rs1484846464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:174719685 (GRCh38)
2:175584413 (GRCh37)
Canonical SPDI:: NC_000002.12:174719684:A:G
Gene:: H3P6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.174719685A>G, NC_000002.11:g.175584413A>G

Select item 14844002708.

rs1484400270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:174721273 (GRCh38)
2:175586001 (GRCh37)
Canonical SPDI:: NC_000002.12:174721272:G:A
Gene:: H3P6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000002.12:g.174721273G>A, NC_000002.11:g.175586001G>A

Select item 14841970329.

rs1484197032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:174718332 (GRCh38)
2:175583060 (GRCh37)
Canonical SPDI:: NC_000002.12:174718331:T:A
Gene:: H3P6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.174718332T>A, NC_000002.11:g.175583060T>A

Select item 148405468210.

rs1484054682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:174720395 (GRCh38)
2:175585123 (GRCh37)
Canonical SPDI:: NC_000002.12:174720394:T:C
Gene:: H3P6 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.174720395T>C, NC_000002.11:g.175585123T>C, NR_002315.1:n.596T>C

Select item 148357729511.

rs1483577295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:174718173 (GRCh38)
2:175582901 (GRCh37)
Canonical SPDI:: NC_000002.12:174718172:C:A,NC_000002.12:174718172:C:T
Gene:: H3P6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.174718173C>A, NC_000002.12:g.174718173C>T, NC_000002.11:g.175582901C>A, NC_000002.11:g.175582901C>T

Select item 148312478912.

rs1483124789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:174721127 (GRCh38)
2:175585855 (GRCh37)
Canonical SPDI:: NC_000002.12:174721126:G:C
Gene:: H3P6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.174721127G>C, NC_000002.11:g.175585855G>C

Select item 148308326413.

rs1483083264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:174719776 (GRCh38)
2:175584504 (GRCh37)
Canonical SPDI:: NC_000002.12:174719775:T:A,NC_000002.12:174719775:T:C
Gene:: H3P6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.174719776T>A, NC_000002.12:g.174719776T>C, NC_000002.11:g.175584504T>A, NC_000002.11:g.175584504T>C

Select item 148222979914.

rs1482229799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:174719176 (GRCh38)
2:175583904 (GRCh37)
Canonical SPDI:: NC_000002.12:174719175:T:C
Gene:: H3P6 (Varview)
Functional Consequence:: upstream_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_000002.12:g.174719176T>C, NC_000002.11:g.175583904T>C

Select item 148209767315.

rs1482097673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:174720075 (GRCh38)
2:175584803 (GRCh37)
Canonical SPDI:: NC_000002.12:174720074:G:A,NC_000002.12:174720074:G:T
Gene:: H3P6 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.174720075G>A, NC_000002.12:g.174720075G>T, NC_000002.11:g.175584803G>A, NC_000002.11:g.175584803G>T, NR_002315.1:n.276G>A, NR_002315.1:n.276G>T

Select item 147852270316.

rs1478522703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:174720322 (GRCh38)
2:175585050 (GRCh37)
Canonical SPDI:: NC_000002.12:174720321:T:A
Gene:: H3P6 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.174720322T>A, NC_000002.11:g.175585050T>A, NR_002315.1:n.523T>A

Select item 147739800617.

rs1477398006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:174719884 (GRCh38)
2:175584612 (GRCh37)
Canonical SPDI:: NC_000002.12:174719883:G:A
Gene:: H3P6 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.174719884G>A, NC_000002.11:g.175584612G>A, NR_002315.1:n.85G>A

Select item 147639147618.

rs1476391476 has merged into rs1020074704 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 2:174719773 (GRCh38)
2:175584501 (GRCh37)
Canonical SPDI:: NC_000002.12:174719765:TTTTTTTTTTT:TTTTTTT,NC_000002.12:174719765:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:174719765:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:174719765:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: H3P6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000002.12:g.174719773_174719776del, NC_000002.12:g.174719775_174719776del, NC_000002.12:g.174719776del, NC_000002.12:g.174719776dup, NC_000002.11:g.175584501_175584504del, NC_000002.11:g.175584503_175584504del, NC_000002.11:g.175584504del, NC_000002.11:g.175584504dup

Select item 147428369419.

rs1474283694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:174720729 (GRCh38)
2:175585457 (GRCh37)
Canonical SPDI:: NC_000002.12:174720728:C:T
Gene:: H3P6 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000016/2 (GnomAD)
HGVS:: NC_000002.12:g.174720729C>T, NC_000002.11:g.175585457C>T, NR_002315.1:n.930C>T

Select item 147424431620.

rs1474244316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:174717977 (GRCh38)
2:175582705 (GRCh37)
Canonical SPDI:: NC_000002.12:174717976:G:A
Gene:: H3P6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.174717977G>A, NC_000002.11:g.175582705G>A

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