SNP Links for Gene (Select 63928) - SNP

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Select item 14910881571.

rs1491088157 has merged into rs113209596 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 16:23753677 (GRCh38)
16:23764998 (GRCh37)
Canonical SPDI:: NC_000016.10:23753666:TTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:23753666:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:23753666:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:23753666:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: CHP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0.00006/1 (ALFA)
T=0.075/3 (GENOME_DK)
-=0.10007/455 (1000Genomes)
HGVS:: NC_000016.10:g.23753677_23753678del, NC_000016.10:g.23753678del, NC_000016.10:g.23753678dup, NC_000016.10:g.23753677_23753678dup, NC_000016.9:g.23764998_23764999del, NC_000016.9:g.23764999del, NC_000016.9:g.23764999dup, NC_000016.9:g.23764998_23764999dup

Select item 14910832442.

rs1491083244 has merged into rs747472365 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTATTT,TTGTTT [Show Flanks]
Chromosome:: 16:23759386 (GRCh38)
16:23770707 (GRCh37)
Canonical SPDI:: NC_000016.10:23759384:TTT:T,NC_000016.10:23759384:TTT:TT,NC_000016.10:23759384:TTT:TTTATTT,NC_000016.10:23759384:TTT:TTTGTTT
Gene:: CHP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.23759386_23759387del, NC_000016.10:g.23759387del, NC_000016.10:g.23759387_23759388insATTT, NC_000016.10:g.23759387_23759388insGTTT, NC_000016.9:g.23770707_23770708del, NC_000016.9:g.23770708del, NC_000016.9:g.23770708_23770709insATTT, NC_000016.9:g.23770708_23770709insGTTT

Select item 14907764663.

rs1490776466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:23756716 (GRCh38)
16:23768037 (GRCh37)
Canonical SPDI:: NC_000016.10:23756715:T:A,NC_000016.10:23756715:T:C
Gene:: CHP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.23756716T>A, NC_000016.10:g.23756716T>C, NC_000016.9:g.23768037T>A, NC_000016.9:g.23768037T>C

Select item 14905619694.

rs1490561969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:23755480 (GRCh38)
16:23766801 (GRCh37)
Canonical SPDI:: NC_000016.10:23755479:A:C
Gene:: CHP2 (Varview)
Functional Consequence:: 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_000016.10:g.23755480A>C, NC_000016.9:g.23766801A>C

Select item 14902927395.

rs1490292739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:23756151 (GRCh38)
16:23767472 (GRCh37)
Canonical SPDI:: NC_000016.10:23756150:A:G
Gene:: CHP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000016.10:g.23756151A>G, NC_000016.9:g.23767472A>G, NM_022097.4:c.310A>G, NM_022097.3:c.310A>G, NP_071380.1:p.Lys104Glu

Select item 14885341756.

rs1488534175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:23758324 (GRCh38)
16:23769645 (GRCh37)
Canonical SPDI:: NC_000016.10:23758323:G:T
Gene:: CHP2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000016.10:g.23758324G>T, NC_000016.9:g.23769645G>T, NM_022097.4:c.*741G>T, NM_022097.3:c.*741G>T

Select item 14877990857.

rs1487799085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:23758656 (GRCh38)
16:23769977 (GRCh37)
Canonical SPDI:: NC_000016.10:23758655:T:C
Gene:: CHP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.23758656T>C, NC_000016.9:g.23769977T>C, NM_022097.4:c.*1073T>C, NM_022097.3:c.*1073T>C

Select item 14866295158.

rs1486629515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:23755039 (GRCh38)
16:23766360 (GRCh37)
Canonical SPDI:: NC_000016.10:23755038:C:G
Gene:: CHP2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
HGVS:: NC_000016.10:g.23755039C>G, NC_000016.9:g.23766360C>G, NM_022097.4:c.-11C>G, NM_022097.3:c.-11C>G

Select item 14866083349.

rs1486608334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:23752770 (GRCh38)
16:23764091 (GRCh37)
Canonical SPDI:: NC_000016.10:23752769:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.23752770G>T, NC_000016.9:g.23764091G>T

Select item 148610969410.

rs1486109694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:23753553 (GRCh38)
16:23764874 (GRCh37)
Canonical SPDI:: NC_000016.10:23753552:G:T
Gene:: CHP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.23753553G>T, NC_000016.9:g.23764874G>T

Select item 148607722011.

rs1486077220 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGAGTGGGGAGCAGT>- [Show Flanks]
Chromosome:: 16:23756616 (GRCh38)
16:23767937 (GRCh37)
Canonical SPDI:: NC_000016.10:23756612:AGTCGGAGTGGGGAGCAGT:AGT
Gene:: CHP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.23756616_23756631del, NC_000016.9:g.23767937_23767952del

Select item 148548754112.

rs1485487541 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTTTCTTTCTTTCTTT,TTTTCTTTCTTTCTTTCTTT [Show Flanks]
Chromosome:: 16:23759388 (GRCh38)
16:23770710 (GRCh37)
Canonical SPDI:: NC_000016.10:23759388:TTTCTTTCTTTCTTTCTTT:TTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTT,NC_000016.10:23759388:TTTCTTTCTTTCTTTCTTT:TTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTTT
Gene:: CHP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.23759391_23759407dup, NC_000016.10:g.23759389_23759407TTTC[4]T[7]CTTT[4], NC_000016.9:g.23770712_23770728dup, NC_000016.9:g.23770710_23770728TTTC[4]T[7]CTTT[4]

Select item 148510840713.

rs1485108407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:23754312 (GRCh38)
16:23765633 (GRCh37)
Canonical SPDI:: NC_000016.10:23754311:T:G
Gene:: CHP2 (Varview)
Functional Consequence:: 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_000016.10:g.23754312T>G, NC_000016.9:g.23765633T>G

Select item 148496832514.

rs1484968325 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTT,CCTT [Show Flanks]
Chromosome:: 16:23759383 (GRCh38)
16:23770705 (GRCh37)
Canonical SPDI:: NC_000016.10:23759383:CTT:CTTACTT,NC_000016.10:23759383:CTT:CTTCCTT
Gene:: CHP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: CTTC=0.00001/1 (GnomAD)
HGVS:: NC_000016.10:g.23759386_23759387insACTT, NC_000016.10:g.23759386_23759387insCCTT, NC_000016.9:g.23770707_23770708insACTT, NC_000016.9:g.23770707_23770708insCCTT

Select item 148491663115.

rs1484916631 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,T [Show Flanks]
Chromosome:: 16:23757061 (GRCh38)
16:23768383 (GRCh37)
Canonical SPDI:: NC_000016.10:23757061::A,NC_000016.10:23757061::T
Gene:: CHP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.23757061_23757062insA, NC_000016.10:g.23757061_23757062insT, NC_000016.9:g.23768382_23768383insA, NC_000016.9:g.23768382_23768383insT

Select item 148483434016.

rs1484834340 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 16:23753082 (GRCh38)
16:23764403 (GRCh37)
Canonical SPDI:: NC_000016.10:23753081:GG:
Gene:: CHP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.23753082_23753083del, NC_000016.9:g.23764403_23764404del

Select item 148478207217.

rs1484782072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23753862 (GRCh38)
16:23765183 (GRCh37)
Canonical SPDI:: NC_000016.10:23753861:C:T
Gene:: CHP2 (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_000016.10:g.23753862C>T, NC_000016.9:g.23765183C>T

Select item 148450426618.

rs1484504266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:23758355 (GRCh38)
16:23769676 (GRCh37)
Canonical SPDI:: NC_000016.10:23758354:C:T
Gene:: CHP2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.23758355C>T, NC_000016.9:g.23769676C>T, NM_022097.4:c.*772C>T, NM_022097.3:c.*772C>T

Select item 148352038219.

rs1483520382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:23757422 (GRCh38)
16:23768743 (GRCh37)
Canonical SPDI:: NC_000016.10:23757421:G:T
Gene:: CHP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000016.10:g.23757422G>T, NC_000016.9:g.23768743G>T

Select item 148348816620.

rs1483488166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:23754440 (GRCh38)
16:23765761 (GRCh37)
Canonical SPDI:: NC_000016.10:23754439:G:A
Gene:: CHP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.23754440G>A, NC_000016.9:g.23765761G>A

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