SNP Links for Gene (Select 27306) - SNP

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Select item 14914685081.

rs1491468508 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:94307819 (GRCh38)
4:95228970 (GRCh37)
Canonical SPDI:: NC_000004.12:94307817:AGA:A
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000129/18 (GnomAD)
-=0.000174/46 (TOPMED)
-=0.001405/7 (1000Genomes)
HGVS:: NC_000004.12:g.94307819_94307820del, NC_000004.11:g.95228970_95228971del, NG_032150.1:g.40058_40059del

Select item 14913748822.

rs1491374882 has merged into rs34427506 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:94309061 (GRCh38)
4:95230212 (GRCh37)
Canonical SPDI:: NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:94309050:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.94309061_94309076del, NC_000004.12:g.94309062_94309076del, NC_000004.12:g.94309063_94309076del, NC_000004.12:g.94309064_94309076del, NC_000004.12:g.94309066_94309076del, NC_000004.12:g.94309067_94309076del, NC_000004.12:g.94309068_94309076del, NC_000004.12:g.94309069_94309076del, NC_000004.12:g.94309070_94309076del, NC_000004.12:g.94309071_94309076del, NC_000004.12:g.94309072_94309076del, NC_000004.12:g.94309073_94309076del, NC_000004.12:g.94309074_94309076del, NC_000004.12:g.94309075_94309076del, NC_000004.12:g.94309076del, NC_000004.12:g.94309076dup, NC_000004.12:g.94309075_94309076dup, NC_000004.12:g.94309074_94309076dup, NC_000004.12:g.94309073_94309076dup, NC_000004.12:g.94309072_94309076dup, NC_000004.12:g.94309070_94309076dup, NC_000004.12:g.94309069_94309076dup, NC_000004.12:g.94309068_94309076dup, NC_000004.12:g.94309067_94309076dup, NC_000004.12:g.94309066_94309076dup, NC_000004.12:g.94309065_94309076dup, NC_000004.12:g.94309064_94309076dup, NC_000004.12:g.94309076_94309077insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.95230212_95230227del, NC_000004.11:g.95230213_95230227del, NC_000004.11:g.95230214_95230227del, NC_000004.11:g.95230215_95230227del, NC_000004.11:g.95230217_95230227del, NC_000004.11:g.95230218_95230227del, NC_000004.11:g.95230219_95230227del, NC_000004.11:g.95230220_95230227del, NC_000004.11:g.95230221_95230227del, NC_000004.11:g.95230222_95230227del, NC_000004.11:g.95230223_95230227del, NC_000004.11:g.95230224_95230227del, NC_000004.11:g.95230225_95230227del, NC_000004.11:g.95230226_95230227del, NC_000004.11:g.95230227del, NC_000004.11:g.95230227dup, NC_000004.11:g.95230226_95230227dup, NC_000004.11:g.95230225_95230227dup, NC_000004.11:g.95230224_95230227dup, NC_000004.11:g.95230223_95230227dup, NC_000004.11:g.95230221_95230227dup, NC_000004.11:g.95230220_95230227dup, NC_000004.11:g.95230219_95230227dup, NC_000004.11:g.95230218_95230227dup, NC_000004.11:g.95230217_95230227dup, NC_000004.11:g.95230216_95230227dup, NC_000004.11:g.95230215_95230227dup, NC_000004.11:g.95230227_95230228insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032150.1:g.38811_38826del, NG_032150.1:g.38812_38826del, NG_032150.1:g.38813_38826del, NG_032150.1:g.38814_38826del, NG_032150.1:g.38816_38826del, NG_032150.1:g.38817_38826del, NG_032150.1:g.38818_38826del, NG_032150.1:g.38819_38826del, NG_032150.1:g.38820_38826del, NG_032150.1:g.38821_38826del, NG_032150.1:g.38822_38826del, NG_032150.1:g.38823_38826del, NG_032150.1:g.38824_38826del, NG_032150.1:g.38825_38826del, NG_032150.1:g.38826del, NG_032150.1:g.38826dup, NG_032150.1:g.38825_38826dup, NG_032150.1:g.38824_38826dup, NG_032150.1:g.38823_38826dup, NG_032150.1:g.38822_38826dup, NG_032150.1:g.38820_38826dup, NG_032150.1:g.38819_38826dup, NG_032150.1:g.38818_38826dup, NG_032150.1:g.38817_38826dup, NG_032150.1:g.38816_38826dup, NG_032150.1:g.38815_38826dup, NG_032150.1:g.38814_38826dup, NG_032150.1:g.38826_38827insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913439883.

rs1491343988 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:94340292 (GRCh38)
4:95261444 (GRCh37)
Canonical SPDI:: NC_000004.12:94340292:C:CC
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00008/5 (GnomAD)
HGVS:: NC_000004.12:g.94340293dup, NC_000004.11:g.95261444dup, NG_032150.1:g.7584dup

Select item 14912818854.

rs1491281885 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:94309050 (GRCh38)
4:95230201 (GRCh37)
Canonical SPDI:: NC_000004.12:94309049:CT:
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00003/1 (GnomAD)
-=0.00175/3 (Korea1K)
HGVS:: NC_000004.12:g.94309050_94309051del, NC_000004.11:g.95230201_95230202del, NG_032150.1:g.38826_38827del

Select item 14911628405.

rs1491162840 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:94340293 (GRCh38)
4:95261444 (GRCh37)
Canonical SPDI:: NC_000004.12:94340291:TCT:T
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00099/16 (ALFA)
-=0.00006/1 (TOMMO)
-=0.05598/4025 (GnomAD)
HGVS:: NC_000004.12:g.94340293_94340294del, NC_000004.11:g.95261444_95261445del, NG_032150.1:g.7584_7585del

Select item 14909541026.

rs1490954102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:94325588 (GRCh38)
4:95246739 (GRCh37)
Canonical SPDI:: NC_000004.12:94325587:C:T
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.94325588C>T, NC_000004.11:g.95246739C>T, NG_032150.1:g.22289G>A

Select item 14909453377.

rs1490945337 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:94339696 (GRCh38)
4:95260847 (GRCh37)
Canonical SPDI:: NC_000004.12:94339695:TA:
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.94339696_94339697del, NC_000004.11:g.95260847_95260848del, NG_032150.1:g.8180_8181del

Select item 14909451218.

rs1490945121 [Homo sapiens]

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

Select item 14909013899.

rs1490901389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:94343954 (GRCh38)
4:95265105 (GRCh37)
Canonical SPDI:: NC_000004.12:94343953:G:A
Gene:: HPGDS (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.94343954G>A, NC_000004.11:g.95265105G>A, NG_032150.1:g.3923C>T

Select item 149087615410.

rs1490876154 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCCG>- [Show Flanks]
Chromosome:: 4:94341076 (GRCh38)
4:95262227 (GRCh37)
Canonical SPDI:: NC_000004.12:94341074:GATCCG:G
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.94341076_94341080del, NC_000004.11:g.95262227_95262231del, NG_032150.1:g.6798_6802del

Select item 149080375611.

rs1490803756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:94308903 (GRCh38)
4:95230054 (GRCh37)
Canonical SPDI:: NC_000004.12:94308902:C:T
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.94308903C>T, NC_000004.11:g.95230054C>T, NG_032150.1:g.38974G>A

Select item 149074533712.

rs1490745337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:94320485 (GRCh38)
4:95241636 (GRCh37)
Canonical SPDI:: NC_000004.12:94320484:T:A
Gene:: HPGDS (Varview)
Functional Consequence:: intron_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.94320485T>A, NC_000004.11:g.95241636T>A, NG_032150.1:g.27392A>T

Select item 149074309013.

rs1490743090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:94299524 (GRCh38)
4:95220675 (GRCh37)
Canonical SPDI:: NC_000004.12:94299523:C:G
Gene:: HPGDS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.94299524C>G, NC_000004.11:g.95220675C>G, NG_032150.1:g.48353G>C, NM_014485.3:c.556G>C, NM_014485.2:c.556G>C, XM_005262932.4:c.463G>C, XM_005262932.3:c.463G>C, XM_005262932.2:c.463G>C, XM_005262932.1:c.463G>C, NP_055300.1:p.Ala186Pro, XP_005262989.1:p.Ala155Pro

Select item 149056475514.

rs1490564755 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:94301515 (GRCh38)
4:95222666 (GRCh37)
Canonical SPDI:: NC_000004.12:94301514:AAAA:AAA
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.94301518del, NC_000004.11:g.95222669del, NG_032150.1:g.46362del

Select item 149053620715.

rs1490536207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:94314418 (GRCh38)
4:95235569 (GRCh37)
Canonical SPDI:: NC_000004.12:94314417:T:C
Gene:: HPGDS (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_000004.12:g.94314418T>C, NC_000004.11:g.95235569T>C, NG_032150.1:g.33459A>G

Select item 149052817316.

rs1490528173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:94298142 (GRCh38)
4:95219293 (GRCh37)
Canonical SPDI:: NC_000004.12:94298141:G:A
Gene:: HPGDS (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.94298142G>A, NC_000004.11:g.95219293G>A, NG_032150.1:g.49735C>T

Select item 149047763117.

rs1490477631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:94338996 (GRCh38)
4:95260147 (GRCh37)
Canonical SPDI:: NC_000004.12:94338995:T:G
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.94338996T>G, NC_000004.11:g.95260147T>G, NG_032150.1:g.8881A>C

Select item 149047052218.

rs1490470522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:94312380 (GRCh38)
4:95233531 (GRCh37)
Canonical SPDI:: NC_000004.12:94312379:C:G,NC_000004.12:94312379:C:T
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.94312380C>G, NC_000004.12:g.94312380C>T, NC_000004.11:g.95233531C>G, NC_000004.11:g.95233531C>T, NG_032150.1:g.35497G>C, NG_032150.1:g.35497G>A

Select item 149042398719.

rs1490423987 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:94340603 (GRCh38)
4:95261754 (GRCh37)
Canonical SPDI:: NC_000004.12:94340602:T:G
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.94340603T>G, NC_000004.11:g.95261754T>G, NG_032150.1:g.7274A>C

Select item 149038512920.

rs1490385129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:94340552 (GRCh38)
4:95261703 (GRCh37)
Canonical SPDI:: NC_000004.12:94340551:G:A
Gene:: HPGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.94340552G>A, NC_000004.11:g.95261703G>A, NG_032150.1:g.7325C>T

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