SNP Links for Gene (Select 7367) - SNP

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Select item 14915314051.

rs1491531405 has merged into rs905072428 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 4:68551325 (GRCh38)
4:69417043 (GRCh37)
Canonical SPDI:: NC_000004.12:68551317:TTTTTTTTT:TTTTTTT,NC_000004.12:68551317:TTTTTTTTT:TTTTTTTT,NC_000004.12:68551317:TTTTTTTTT:TTTTTTTTTT
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.68551325_68551326del, NC_000004.12:g.68551326del, NC_000004.12:g.68551326dup, NC_000004.11:g.69417043_69417044del, NC_000004.11:g.69417044del, NC_000004.11:g.69417044dup, NG_017033.1:g.22209_22210del, NG_017033.1:g.22210del, NG_017033.1:g.22210dup

Select item 14915259572.

rs1491525957 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:68561785 (GRCh38)
4:69427504 (GRCh37)
Canonical SPDI:: NC_000004.12:68561785::A
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/2 (GnomAD)
HGVS:: NC_000004.12:g.68561785_68561786insA, NC_000004.11:g.69427503_69427504insA, NG_017033.1:g.11742_11743insT

Select item 14913582563.

rs1491358256 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:68555923 (GRCh38)
4:69421641 (GRCh37)
Canonical SPDI:: NC_000004.12:68555922:GT:
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00011/5 (GnomAD)
HGVS:: NC_000004.12:g.68555923_68555924del, NC_000004.11:g.69421641_69421642del, NG_017033.1:g.17604_17605del

Select item 14913383664.

rs1491338366 [Homo sapiens]

Variant type:: SNV:
Alleles:: CC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14912796165.

rs1491279616 has merged into rs34104261 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:68555937 (GRCh38)
4:69421655 (GRCh37)
Canonical SPDI:: NC_000004.12:68555923:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:68555923:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:68555923:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:68555923:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:68555923:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:68555923:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:68555923:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:68555923:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.2442/1223 (1000Genomes)
HGVS:: NC_000004.12:g.68555937_68555941del, NC_000004.12:g.68555938_68555941del, NC_000004.12:g.68555939_68555941del, NC_000004.12:g.68555940_68555941del, NC_000004.12:g.68555941del, NC_000004.12:g.68555941dup, NC_000004.12:g.68555940_68555941dup, NC_000004.12:g.68555930_68555941dup, NC_000004.11:g.69421655_69421659del, NC_000004.11:g.69421656_69421659del, NC_000004.11:g.69421657_69421659del, NC_000004.11:g.69421658_69421659del, NC_000004.11:g.69421659del, NC_000004.11:g.69421659dup, NC_000004.11:g.69421658_69421659dup, NC_000004.11:g.69421648_69421659dup, NG_017033.1:g.17600_17604del, NG_017033.1:g.17601_17604del, NG_017033.1:g.17602_17604del, NG_017033.1:g.17603_17604del, NG_017033.1:g.17604del, NG_017033.1:g.17604dup, NG_017033.1:g.17603_17604dup, NG_017033.1:g.17593_17604dup

Select item 14912346496.

rs1491234649 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:68551318 (GRCh38)
4:69417037 (GRCh37)
Canonical SPDI:: NC_000004.12:68551318::A
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/1 (GnomAD)
HGVS:: NC_000004.12:g.68551318_68551319insA, NC_000004.11:g.69417036_69417037insA, NG_017033.1:g.22209_22210insT

Select item 14909793217.

rs1490979321 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:68536901 (GRCh38)
4:69402619 (GRCh37)
Canonical SPDI:: NC_000004.12:68536900:A:C,NC_000004.12:68536900:A:G
Gene:: UGT2B17 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000042/5 (GnomAD)
HGVS:: NC_000004.12:g.68536901A>C, NC_000004.12:g.68536901A>G, NC_000004.11:g.69402619A>C, NC_000004.11:g.69402619A>G, NG_017033.1:g.36627T>G, NG_017033.1:g.36627T>C

Select item 14909122558.

rs1490912255 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:68567475 (GRCh38)
4:69433193 (GRCh37)
Canonical SPDI:: NC_000004.12:68567474:AAAAAA:AAAAA
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000017/2 (GnomAD)
HGVS:: NC_000004.12:g.68567480del, NC_000004.11:g.69433198del, NG_017033.1:g.6053del

Select item 14909002059.

rs1490900205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68553171 (GRCh38)
4:69418889 (GRCh37)
Canonical SPDI:: NC_000004.12:68553170:A:G
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.68553171A>G, NC_000004.11:g.69418889A>G, NG_017033.1:g.20357T>C

Select item 149081950310.

rs1490819503 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:68544409 (GRCh38)
4:69410127 (GRCh37)
Canonical SPDI:: NC_000004.12:68544408:CC:C
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000017/2 (GnomAD)
HGVS:: NC_000004.12:g.68544410del, NC_000004.11:g.69410128del, NG_017033.1:g.29119del

Select item 149077921811.

rs1490779218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:68560906 (GRCh38)
4:69426624 (GRCh37)
Canonical SPDI:: NC_000004.12:68560905:G:T
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.68560906G>T, NC_000004.11:g.69426624G>T, NG_017033.1:g.12622C>A

Select item 149071171212.

rs1490711712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:68542531 (GRCh38)
4:69408249 (GRCh37)
Canonical SPDI:: NC_000004.12:68542530:G:T
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000076/9 (GnomAD)
HGVS:: NC_000004.12:g.68542531G>T, NC_000004.11:g.69408249G>T, NG_017033.1:g.30997C>A

Select item 149064621413.

rs1490646214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68545222 (GRCh38)
4:69410940 (GRCh37)
Canonical SPDI:: NC_000004.12:68545221:A:G
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000076/9 (GnomAD)
G=0.000579/4 (TOMMO)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.68545222A>G, NC_000004.11:g.69410940A>G, NG_017033.1:g.28306T>C

Select item 149054083514.

rs1490540835 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 4:68545641 (GRCh38)
4:69411359 (GRCh37)
Canonical SPDI:: NC_000004.12:68545640:TTTTTT:TTTTT
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.68545646del, NC_000004.11:g.69411364del, NG_017033.1:g.27887del

Select item 149051921015.

rs1490519210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:68543201 (GRCh38)
4:69408919 (GRCh37)
Canonical SPDI:: NC_000004.12:68543200:C:A,NC_000004.12:68543200:C:T
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.68543201C>A, NC_000004.12:g.68543201C>T, NC_000004.11:g.69408919C>A, NC_000004.11:g.69408919C>T, NG_017033.1:g.30327G>T, NG_017033.1:g.30327G>A

Select item 149051592416.

rs1490515924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:68560647 (GRCh38)
4:69426365 (GRCh37)
Canonical SPDI:: NC_000004.12:68560646:T:G
Gene:: UGT2B17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.68560647T>G, NC_000004.11:g.69426365T>G, NG_017033.1:g.12881A>C, NM_001077.4:c.895A>C, NM_001077.3:c.895A>C, NP_001068.1:p.Ser299Arg

Select item 149050398417.

rs1490503984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:68537574 (GRCh38)
4:69403292 (GRCh37)
Canonical SPDI:: NC_000004.12:68537573:T:C
Gene:: UGT2B17 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.68537574T>C, NC_000004.11:g.69403292T>C, NG_017033.1:g.35954A>G, NM_001077.4:c.*51A>G, NM_001077.3:c.*51A>G

Select item 149046609218.

rs1490466092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:68551660 (GRCh38)
4:69417378 (GRCh37)
Canonical SPDI:: NC_000004.12:68551659:A:G
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000059/7 (GnomAD)
HGVS:: NC_000004.12:g.68551660A>G, NC_000004.11:g.69417378A>G, NG_017033.1:g.21868T>C

Select item 149040978619.

rs1490409786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:68552700 (GRCh38)
4:69418418 (GRCh37)
Canonical SPDI:: NC_000004.12:68552699:C:T
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000042/5 (GnomAD)
HGVS:: NC_000004.12:g.68552700C>T, NC_000004.11:g.69418418C>T, NG_017033.1:g.20828G>A

Select item 149036765020.

rs1490367650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:68562167 (GRCh38)
4:69427885 (GRCh37)
Canonical SPDI:: NC_000004.12:68562166:G:A
Gene:: UGT2B17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000506/6 (ALFA)
A=0.00032/37 (GnomAD)
HGVS:: NC_000004.12:g.68562167G>A, NC_000004.11:g.69427885G>A, NG_017033.1:g.11361C>T

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