SNP Links for Gene (Select 29923) - SNP

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Select item 14906979861.

rs1490697986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:128458250 (GRCh38)
7:128098304 (GRCh37)
Canonical SPDI:: NC_000007.14:128458249:G:A,NC_000007.14:128458249:G:C
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.128458250G>A, NC_000007.14:g.128458250G>C, NC_000007.13:g.128098304G>A, NC_000007.13:g.128098304G>C, NM_013332.4:c.*790G>A, NM_013332.4:c.*790G>C, NM_013332.3:c.*790G>A, NM_013332.3:c.*790G>C, NM_001098786.2:c.*790G>A, NM_001098786.2:c.*790G>C, NM_001098786.1:c.*790G>A, NM_001098786.1:c.*790G>C

Select item 14901221272.

rs1490122127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:128457334 (GRCh38)
7:128097388 (GRCh37)
Canonical SPDI:: NC_000007.14:128457333:A:C,NC_000007.14:128457333:A:G
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,intron_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_000007.14:g.128457334A>C, NC_000007.14:g.128457334A>G, NC_000007.13:g.128097388A>C, NC_000007.13:g.128097388A>G, NM_013332.4:c.66A>C, NM_013332.4:c.66A>G, NM_013332.3:c.66A>C, NM_013332.3:c.66A>G, NM_001098786.2:c.66A>C, NM_001098786.2:c.66A>G, NM_001098786.1:c.66A>C, NM_001098786.1:c.66A>G, NP_037464.1:p.Arg22Ser, NP_001092256.1:p.Arg22Ser

Select item 14899589223.

rs1489958922 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:128457725 (GRCh38)
7:128097779 (GRCh37)
Canonical SPDI:: NC_000007.14:128457724:AA:A
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.128457726del, NC_000007.13:g.128097780del, NM_013332.4:c.*266del, NM_013332.3:c.*266del, NM_001098786.2:c.*266del, NM_001098786.1:c.*266del

Select item 14896958534.

rs1489695853 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>- [Show Flanks]
Chromosome:: 7:128455584 (GRCh38)
7:128095638 (GRCh37)
Canonical SPDI:: NC_000007.14:128455581:CTCTCT:CT
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.128455582CT[1], NC_000007.13:g.128095636CT[1]

Select item 14896852445.

rs1489685244 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 7:128454294 (GRCh38)
7:128094348 (GRCh37)
Canonical SPDI:: NC_000007.14:128454290:AAGAAG:AAG
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAGAAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.128454291AAG[1], NC_000007.13:g.128094345AAG[1]

Select item 14896313356.

rs1489631335 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCTTTAGACAATG>- [Show Flanks]
Chromosome:: 7:128453957 (GRCh38)
7:128094011 (GRCh37)
Canonical SPDI:: NC_000007.14:128453953:ATGACCTTTAGACAATG:ATG
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.128453957_128453970del, NC_000007.13:g.128094011_128094024del

Select item 14893199207.

rs1489319920 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAA>- [Show Flanks]
Chromosome:: 7:128455439 (GRCh38)
7:128095493 (GRCh37)
Canonical SPDI:: NC_000007.14:128455436:AAATAA:AA
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
-=0.000045/12 (TOPMED)
-=0.000057/8 (GnomAD)
HGVS:: NC_000007.14:g.128455439_128455442del, NC_000007.13:g.128095493_128095496del

Select item 14885599688.

rs1488559968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:128454275 (GRCh38)
7:128094329 (GRCh37)
Canonical SPDI:: NC_000007.14:128454274:G:A
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.128454275G>A, NC_000007.13:g.128094329G>A

Select item 14881531109.

rs1488153110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:128458557 (GRCh38)
7:128098611 (GRCh37)
Canonical SPDI:: NC_000007.14:128458556:G:A
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_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_000007.14:g.128458557G>A, NC_000007.13:g.128098611G>A

Select item 148626249610.

rs1486262496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:128455414 (GRCh38)
7:128095468 (GRCh37)
Canonical SPDI:: NC_000007.14:128455413:C:T
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.128455414C>T, NC_000007.13:g.128095468C>T

Select item 148521452911.

rs1485214529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:128454794 (GRCh38)
7:128094848 (GRCh37)
Canonical SPDI:: NC_000007.14:128454793:G:T
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.128454794G>T, NC_000007.13:g.128094848G>T

Select item 148434608812.

rs1484346088 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 7:128456934 (GRCh38)
7:128096988 (GRCh37)
Canonical SPDI:: NC_000007.14:128456933:TT:T
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000007.14:g.128456935del, NC_000007.13:g.128096989del

Select item 148205939813.

rs1482059398 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 7:128456514 (GRCh38)
7:128096568 (GRCh37)
Canonical SPDI:: NC_000007.14:128456513:TTT:TT
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.128456516del, NC_000007.13:g.128096570del

Select item 148139450714.

rs1481394507 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:128454584 (GRCh38)
7:128094638 (GRCh37)
Canonical SPDI:: NC_000007.14:128454583:GG:G
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000007.14:g.128454585del, NC_000007.13:g.128094639del

Select item 148100470115.

rs1481004701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:128455719 (GRCh38)
7:128095773 (GRCh37)
Canonical SPDI:: NC_000007.14:128455718:C:T
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.128455719C>T, NC_000007.13:g.128095773C>T

Select item 148074053316.

rs1480740533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:128458141 (GRCh38)
7:128098195 (GRCh37)
Canonical SPDI:: NC_000007.14:128458140:C:T
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.128458141C>T, NC_000007.13:g.128098195C>T, NM_013332.4:c.*681C>T, NM_013332.3:c.*681C>T, NM_001098786.2:c.*681C>T, NM_001098786.1:c.*681C>T

Select item 147976718617.

rs1479767186 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGTAATCCCAGCTCCTTGGGAGGCTGAGGC>- [Show Flanks]
Chromosome:: 7:128457787 (GRCh38)
7:128097841 (GRCh37)
Canonical SPDI:: NC_000007.14:128457781:GAGGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGC:GAGGC
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GAGGC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.128457787_128457817del, NC_000007.13:g.128097841_128097871del, NM_013332.4:c.*327_*357del, NM_013332.3:c.*327_*357del, NM_001098786.2:c.*327_*357del, NM_001098786.1:c.*327_*357del

Select item 147947379418.

rs1479473794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:128458259 (GRCh38)
7:128098313 (GRCh37)
Canonical SPDI:: NC_000007.14:128458258:C:T
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.128458259C>T, NC_000007.13:g.128098313C>T, NM_013332.4:c.*799C>T, NM_013332.3:c.*799C>T, NM_001098786.2:c.*799C>T, NM_001098786.1:c.*799C>T

Select item 147942296919.

rs1479422969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:128457469 (GRCh38)
7:128097523 (GRCh37)
Canonical SPDI:: NC_000007.14:128457468:C:A
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.128457469C>A, NC_000007.13:g.128097523C>A, NM_013332.4:c.*9C>A, NM_013332.3:c.*9C>A, NM_001098786.2:c.*9C>A, NM_001098786.1:c.*9C>A

Select item 147911171520.

rs1479111715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:128455235 (GRCh38)
7:128095289 (GRCh37)
Canonical SPDI:: NC_000007.14:128455234:C:T
Gene:: HILPDA (Varview), HILPDA-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.128455235C>T, NC_000007.13:g.128095289C>T

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