SNP Links for Gene (Select 3425) - SNP

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Select item 14910094061.

rs1491009406 has merged into rs57992789 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 4:995366 (GRCh38)
4:989154 (GRCh37)
Canonical SPDI:: NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:995353:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: IDUA (Varview), SLC26A1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.995366_995369del, NC_000004.12:g.995367_995369del, NC_000004.12:g.995368_995369del, NC_000004.12:g.995369del, NC_000004.12:g.995369dup, NC_000004.12:g.995368_995369dup, NC_000004.11:g.989154_989157del, NC_000004.11:g.989155_989157del, NC_000004.11:g.989156_989157del, NC_000004.11:g.989157del, NC_000004.11:g.989157dup, NC_000004.11:g.989156_989157dup, NG_008103.1:g.13370_13373del, NG_008103.1:g.13371_13373del, NG_008103.1:g.13372_13373del, NG_008103.1:g.13373del, NG_008103.1:g.13373dup, NG_008103.1:g.13372_13373dup, NG_033042.1:g.3080_3083del, NG_033042.1:g.3081_3083del, NG_033042.1:g.3082_3083del, NG_033042.1:g.3083del, NG_033042.1:g.3083dup, NG_033042.1:g.3082_3083dup

Select item 14909913552.

rs1490991355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:985706 (GRCh38)
4:979494 (GRCh37)
Canonical SPDI:: NC_000004.12:985705:C:T
Gene:: IDUA (Varview), SLC26A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000162/3 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000004.12:g.985706C>T, NC_000004.11:g.979494C>T, NG_008103.1:g.3710C>T, NG_033042.1:g.12731G>A

Select item 14907899173.

rs1490789917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:997956 (GRCh38)
4:991744 (GRCh37)
Canonical SPDI:: NC_000004.12:997955:G:T
Gene:: IDUA (Varview), LOC124900646 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000034/9 (TOPMED)
HGVS:: NC_000004.12:g.997956G>T, NC_000004.11:g.991744G>T, NG_008103.1:g.15960G>T, NG_033042.1:g.481C>A

Select item 14907234114.

rs1490723411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:997347 (GRCh38)
4:991135 (GRCh37)
Canonical SPDI:: NC_000004.12:997346:C:G,NC_000004.12:997346:C:T
Gene:: IDUA (Varview), LOC124900646 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.997347C>G, NC_000004.12:g.997347C>T, NC_000004.11:g.991135C>G, NC_000004.11:g.991135C>T, NG_008103.1:g.15351C>G, NG_008103.1:g.15351C>T, NG_033042.1:g.1090G>C, NG_033042.1:g.1090G>A

Select item 14905528675.

rs1490552867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:991814 (GRCh38)
4:985602 (GRCh37)
Canonical SPDI:: NC_000004.12:991813:G:A
Gene:: IDUA (Varview), SLC26A1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.991814G>A, NC_000004.11:g.985602G>A, NG_008103.1:g.9818G>A, NG_033042.1:g.6623C>T, XM_047415651.1:c.65G>A, XP_047271607.1:p.Trp22Ter

Select item 14904615436.

rs1490461543 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:991306 (GRCh38)
4:985094 (GRCh37)
Canonical SPDI:: NC_000004.12:991305:A:G
Gene:: IDUA (Varview), SLC26A1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.991306A>G, NC_000004.11:g.985094A>G, NG_008103.1:g.9310A>G, NG_033042.1:g.7131T>C, NM_213613.4:c.398T>C, NM_213613.3:c.398T>C, NM_022042.4:c.398T>C, NM_022042.3:c.398T>C, NM_134425.4:c.398T>C, NM_134425.3:c.398T>C, NM_134425.2:c.398T>C, XR_007096347.1:n.425T>C, NP_998778.1:p.Val133Ala, NP_071325.2:p.Val133Ala, NP_602297.1:p.Val133Ala

Select item 14902245397.

rs1490224539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:988293 (GRCh38)
4:982081 (GRCh37)
Canonical SPDI:: NC_000004.12:988292:C:T
Gene:: IDUA (Varview), SLC26A1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.988293C>T, NC_000004.11:g.982081C>T, NG_008103.1:g.6297C>T, NG_033042.1:g.10144G>A, NM_213613.4:c.*540G>A, NM_213613.3:c.*540G>A, NM_022042.4:c.*540G>A, NM_022042.3:c.*540G>A, XR_007096347.1:n.2673G>A

Select item 14901498718.

rs1490149871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:999930 (GRCh38)
4:993718 (GRCh37)
Canonical SPDI:: NC_000004.12:999929:A:G
Gene:: IDUA (Varview), LOC124900646 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.01131/33 (KOREAN)
HGVS:: NC_000004.12:g.999930A>G, NC_000004.11:g.993718A>G, NG_008103.1:g.17934A>G, NM_001363576.1:c.-232A>G

Select item 14901348219.

rs1490134821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:998802 (GRCh38)
4:992590 (GRCh37)
Canonical SPDI:: NC_000004.12:998801:A:C
Gene:: IDUA (Varview), LOC124900646 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00017/2 (ALFA)
C=0.04029/117 (KOREAN)
HGVS:: NC_000004.12:g.998802A>C, NC_000004.11:g.992590A>C, NG_008103.1:g.16806A>C, XM_047416476.1:c.438A>C

Select item 149005966110.

rs1490059661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:992205 (GRCh38)
4:985993 (GRCh37)
Canonical SPDI:: NC_000004.12:992204:C:A
Gene:: IDUA (Varview), SLC26A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.992205C>A, NC_000004.11:g.985993C>A, NG_008103.1:g.10209C>A, NG_033042.1:g.6232G>T, XM_011513461.3:c.67C>A, XM_011513461.2:c.67C>A, XM_011513461.1:c.67C>A, XP_011511763.1:p.Pro23Thr

Select item 149002410711.

rs1490024107 [Homo sapiens]

Variant type:: DEL
Alleles:: CCT>- [Show Flanks]
Chromosome:: 4:1001734 (GRCh38)
4:995522 (GRCh37)
Canonical SPDI:: NC_000004.12:1001733:CCT:
Gene:: IDUA (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.1001734_1001736del, NC_000004.11:g.995522_995524del, NG_008103.1:g.19738_19740del, NM_000203.5:c.645_647del, NM_000203.4:c.645_647del, NM_000203.3:c.645_647del, NR_110313.1:n.733_735del, NM_001363576.1:c.249_251del, XM_011513461.3:c.438_440del, XM_011513461.2:c.438_440del, XM_011513461.1:c.438_440del, XM_047415652.1:c.-316_-314del, XM_047415649.1:c.645_647del, XM_047415648.1:c.645_647del, XM_047415651.1:c.537_539del, XM_047415650.1:c.645_647del, NP_000194.2:p.Leu216del, NP_001350505.1:p.Leu84del, XP_011511763.1:p.Leu147del, XP_047271605.1:p.Leu216del, XP_047271604.1:p.Leu216del, XP_047271607.1:p.Leu180del, XP_047271606.1:p.Leu216del

Select item 148994600612.

rs1489946006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:996497 (GRCh38)
4:990285 (GRCh37)
Canonical SPDI:: NC_000004.12:996496:G:A
Gene:: IDUA (Varview), LOC124900646 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.996497G>A, NC_000004.11:g.990285G>A, NG_008103.1:g.14501G>A, NG_033042.1:g.1940C>T

Select item 148977346013.

rs1489773460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:1003862 (GRCh38)
4:997650 (GRCh37)
Canonical SPDI:: NC_000004.12:1003861:G:A,NC_000004.12:1003861:G:T
Gene:: IDUA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.1003862G>A, NC_000004.12:g.1003862G>T, NC_000004.11:g.997650G>A, NC_000004.11:g.997650G>T, NG_008103.1:g.21866G>A, NG_008103.1:g.21866G>T

Select item 148976406314.

rs1489764063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:986875 (GRCh38)
4:980663 (GRCh37)
Canonical SPDI:: NC_000004.12:986874:G:A
Gene:: IDUA (Varview), SLC26A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000016/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.986875G>A, NC_000004.11:g.980663G>A, NG_008103.1:g.4879G>A, NG_033042.1:g.11562C>T, XR_007096347.1:n.4091C>T

Select item 148969534315.

rs1489695343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:996612 (GRCh38)
4:990400 (GRCh37)
Canonical SPDI:: NC_000004.12:996611:C:A
Gene:: IDUA (Varview), LOC124900646 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_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_000004.12:g.996612C>A, NC_000004.11:g.990400C>A, NG_008103.1:g.14616C>A, NG_033042.1:g.1825G>T

Select item 148955483016.

rs1489554830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:993146 (GRCh38)
4:986934 (GRCh37)
Canonical SPDI:: NC_000004.12:993145:C:G,NC_000004.12:993145:C:T
Gene:: IDUA (Varview), SLC26A1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.993146C>G, NC_000004.12:g.993146C>T, NC_000004.11:g.986934C>G, NC_000004.11:g.986934C>T, NG_008103.1:g.11150C>G, NG_008103.1:g.11150C>T, NG_033042.1:g.5291G>C, NG_033042.1:g.5291G>A

Select item 148952160317.

rs1489521603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:999937 (GRCh38)
4:993725 (GRCh37)
Canonical SPDI:: NC_000004.12:999936:T:A
Gene:: IDUA (Varview), LOC124900646 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.999937T>A, NC_000004.11:g.993725T>A, NG_008103.1:g.17941T>A, NM_001363576.1:c.-225T>A

Select item 148949488418.

rs1489494884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:999139 (GRCh38)
4:992927 (GRCh37)
Canonical SPDI:: NC_000004.12:999138:A:G
Gene:: IDUA (Varview), LOC124900646 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.999139A>G, NC_000004.11:g.992927A>G, NG_008103.1:g.17143A>G

Select item 148939226419.

rs1489392264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:998702 (GRCh38)
4:992490 (GRCh37)
Canonical SPDI:: NC_000004.12:998701:C:A
Gene:: IDUA (Varview), LOC124900646 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000004.12:g.998702C>A, NC_000004.11:g.992490C>A, NG_008103.1:g.16706C>A, XM_047416476.1:c.338C>A, XP_047272432.1:p.Thr113Asn

Select item 148927633320.

rs1489276333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:1001478 (GRCh38)
4:995266 (GRCh37)
Canonical SPDI:: NC_000004.12:1001477:A:C
Gene:: IDUA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.1001478A>C, NC_000004.11:g.995266A>C, NG_008103.1:g.19482A>C, NM_000203.5:c.504A>C, NM_000203.4:c.504A>C, NM_000203.3:c.504A>C, NR_110313.1:n.592A>C, NM_001363576.1:c.108A>C, XM_011513461.3:c.297A>C, XM_011513461.2:c.297A>C, XM_011513461.1:c.297A>C, XM_047415652.1:c.-485A>C, XM_047415649.1:c.504A>C, XM_047415648.1:c.504A>C, XM_047415651.1:c.396A>C, XM_047415650.1:c.504A>C

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