SNP Links for Gene (Select 401137) - SNP

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Select item 14915774951.

rs1491577495 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 4:70155716 (GRCh38)
4:71021433 (GRCh37)
Canonical SPDI:: NC_000004.12:70155715:CC:
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.70155716_70155717del, NC_000004.11:g.71021433_71021434del, NW_013171801.1:g.200302_200303del

Select item 14915280192.

rs1491528019 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 4:70166749 (GRCh38)
4:71032467 (GRCh37)
Canonical SPDI:: NC_000004.12:70166749:TGTGTGT:TGTGTGTGT
Gene:: PRR27 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGT=0./0 (ALFA)
TG=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.70166751GT[4], NC_000004.11:g.71032468GT[4], NW_013171801.1:g.211337GT[4]

Select item 14914273193.

rs1491427319 has merged into rs71210150 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 4:70160461 (GRCh38)
4:71026178 (GRCh37)
Canonical SPDI:: NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000004.12:g.70160445GT[8], NC_000004.12:g.70160445GT[9], NC_000004.12:g.70160445GT[11], NC_000004.12:g.70160445GT[12], NC_000004.12:g.70160445GT[13], NC_000004.12:g.70160445GT[14], NC_000004.12:g.70160445GT[16], NC_000004.12:g.70160445GT[17], NC_000004.12:g.70160445GT[18], NC_000004.12:g.70160445GT[19], NC_000004.12:g.70160445GT[20], NC_000004.12:g.70160445GT[21], NC_000004.12:g.70160445GT[22], NC_000004.12:g.70160445GT[23], NC_000004.12:g.70160445GT[24], NC_000004.12:g.70160445GT[25], NC_000004.12:g.70160445GT[26], NC_000004.12:g.70160445GT[27], NC_000004.12:g.70160445GT[28], NC_000004.11:g.71026162GT[8], NC_000004.11:g.71026162GT[9], NC_000004.11:g.71026162GT[11], NC_000004.11:g.71026162GT[12], NC_000004.11:g.71026162GT[13], NC_000004.11:g.71026162GT[14], NC_000004.11:g.71026162GT[16], NC_000004.11:g.71026162GT[17], NC_000004.11:g.71026162GT[18], NC_000004.11:g.71026162GT[19], NC_000004.11:g.71026162GT[20], NC_000004.11:g.71026162GT[21], NC_000004.11:g.71026162GT[22], NC_000004.11:g.71026162GT[23], NC_000004.11:g.71026162GT[24], NC_000004.11:g.71026162GT[25], NC_000004.11:g.71026162GT[26], NC_000004.11:g.71026162GT[27], NC_000004.11:g.71026162GT[28], NW_013171801.1:g.205031GT[8], NW_013171801.1:g.205031GT[9], NW_013171801.1:g.205031GT[11], NW_013171801.1:g.205031GT[12], NW_013171801.1:g.205031GT[13], NW_013171801.1:g.205031GT[14], NW_013171801.1:g.205031GT[16], NW_013171801.1:g.205031GT[17], NW_013171801.1:g.205031GT[18], NW_013171801.1:g.205031GT[19], NW_013171801.1:g.205031GT[20], NW_013171801.1:g.205031GT[21], NW_013171801.1:g.205031GT[22], NW_013171801.1:g.205031GT[23], NW_013171801.1:g.205031GT[24], NW_013171801.1:g.205031GT[25], NW_013171801.1:g.205031GT[26], NW_013171801.1:g.205031GT[27], NW_013171801.1:g.205031GT[28]

Select item 14914094554.

rs1491409455 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 4:70155715 (GRCh38)
4:71021433 (GRCh37)
Canonical SPDI:: NC_000004.12:70155715:CC:CCCC
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
CC=0.000066/9 (GnomAD)
HGVS:: NC_000004.12:g.70155716_70155717dup, NC_000004.11:g.71021433_71021434dup, NW_013171801.1:g.200302_200303dup

Select item 14913101255.

rs1491310125 has merged into rs941174447 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 4:70160029 (GRCh38)
4:71025746 (GRCh37)
Canonical SPDI:: NC_000004.12:70160028:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:70160028:AAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:70160028:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.00382/7 (Korea1K)
HGVS:: NC_000004.12:g.70160038del, NC_000004.12:g.70160038dup, NC_000004.12:g.70160037_70160038dup, NC_000004.11:g.71025755del, NC_000004.11:g.71025755dup, NC_000004.11:g.71025754_71025755dup, NW_013171801.1:g.204624del, NW_013171801.1:g.204624dup, NW_013171801.1:g.204623_204624dup

Select item 14911383266.

rs1491138326 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:70166749 (GRCh38)
4:71032466 (GRCh37)
Canonical SPDI:: NC_000004.12:70166748:AT:
Gene:: PRR27 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.70166749_70166750del, NC_000004.11:g.71032466_71032467del, NW_013171801.1:g.211335_211336del

Select item 14911107607.

rs1491110760 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTCTCG,CTCTCTCTCTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 4:70160444 (GRCh38)
4:71026162 (GRCh37)
Canonical SPDI:: NC_000004.12:70160444::CTCTCG,NC_000004.12:70160444::CTCTCTCTCTGTGTGTGTGTGTG
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCTCG=0./0 (ALFA)
HGVS:: NC_000004.12:g.70160444_70160445insCTCTCG, NC_000004.12:g.70160444_70160445insCTCTCTCTCTGTGTGTGTGTGTG, NC_000004.11:g.71026161_71026162insCTCTCG, NC_000004.11:g.71026161_71026162insCTCTCTCTCTGTGTGTGTGTGTG, NW_013171801.1:g.205030_205031insCTCTCG, NW_013171801.1:g.205030_205031insCTCTCTCTCTGTGTGTGTGTGTG

Select item 14907837248.

rs1490783724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:70159021 (GRCh38)
4:71024738 (GRCh37)
Canonical SPDI:: NC_000004.12:70159020:A:G
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.70159021A>G, NC_000004.11:g.71024738A>G, NW_013171801.1:g.203607A>G

Select item 14907088469.

rs1490708846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:70163559 (GRCh38)
4:71029276 (GRCh37)
Canonical SPDI:: NC_000004.12:70163558:G:A
Gene:: PRR27 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000061/1 (ALFA)
A=0.000049/13 (TOPMED)
A=0.000093/13 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.70163559G>A, NC_000004.11:g.71029276G>A, NW_013171801.1:g.208145G>A, NM_214711.4:c.*898G>A, NM_214711.3:c.*898G>A

Select item 149069310710.

rs1490693107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:70165609 (GRCh38)
4:71031326 (GRCh37)
Canonical SPDI:: NC_000004.12:70165608:T:C
Gene:: PRR27 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.70165609T>C, NC_000004.11:g.71031326T>C, NW_013171801.1:g.210195T>C, NM_214711.4:c.*2948T>C, NM_214711.3:c.*2948T>C

Select item 149056192611.

rs1490561926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:70152271 (GRCh38)
4:71017988 (GRCh37)
Canonical SPDI:: NC_000004.12:70152270:A:T
Gene:: PRR27 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.70152271A>T, NC_000004.11:g.71017988A>T, NW_013171801.1:g.196857A>T

Select item 149030808312.

rs1490308083 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:70161575 (GRCh38)
4:71027292 (GRCh37)
Canonical SPDI:: NC_000004.12:70161574:A:T
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0007/3 (ALFA)
T=0.0004/2 (Estonian)
HGVS:: NC_000004.12:g.70161575A>T, NC_000004.11:g.71027292A>T, NW_013171801.1:g.206161A>T

Select item 149019800413.

rs1490198004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:70152995 (GRCh38)
4:71018712 (GRCh37)
Canonical SPDI:: NC_000004.12:70152994:A:G
Gene:: PRR27 (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_000004.12:g.70152995A>G, NC_000004.11:g.71018712A>G, NW_013171801.1:g.197581A>G

Select item 148994182414.

rs1489941824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:70160418 (GRCh38)
4:71026135 (GRCh37)
Canonical SPDI:: NC_000004.12:70160417:T:C
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.70160418T>C, NC_000004.11:g.71026135T>C, NW_013171801.1:g.205004T>C

Select item 148985033515.

rs1489850335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:70165815 (GRCh38)
4:71031532 (GRCh37)
Canonical SPDI:: NC_000004.12:70165814:A:G
Gene:: PRR27 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.70165815A>G, NC_000004.11:g.71031532A>G, NW_013171801.1:g.210401A>G, NM_214711.4:c.*3154A>G, NM_214711.3:c.*3154A>G

Select item 148982847616.

rs1489828476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:70166800 (GRCh38)
4:71032517 (GRCh37)
Canonical SPDI:: NC_000004.12:70166799:G:A
Gene:: PRR27 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.70166800G>A, NC_000004.11:g.71032517G>A, NW_013171801.1:g.211386G>A

Select item 148937473417.

rs1489374734 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:70158509 (GRCh38)
4:71024226 (GRCh37)
Canonical SPDI:: NC_000004.12:70158507:TAT:T
Gene:: PRR27 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.70158509_70158510del, NC_000004.11:g.71024226_71024227del, NW_013171801.1:g.203095_203096del, NM_214711.4:c.257_258del, NM_214711.3:c.257_258del, NP_999876.2:p.Tyr86fs

Select item 148926351218.

rs1489263512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:70154649 (GRCh38)
4:71020366 (GRCh37)
Canonical SPDI:: NC_000004.12:70154648:T:C
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.70154649T>C, NC_000004.11:g.71020366T>C, NW_013171801.1:g.199235T>C

Select item 148909941719.

rs1489099417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:70153087 (GRCh38)
4:71018804 (GRCh37)
Canonical SPDI:: NC_000004.12:70153086:G:A
Gene:: PRR27 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.70153087G>A, NC_000004.11:g.71018804G>A, NW_013171801.1:g.197673G>A

Select item 148908005220.

rs1489080052 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCTG [Show Flanks]
Chromosome:: 4:70158856 (GRCh38)
4:71024574 (GRCh37)
Canonical SPDI:: NC_000004.12:70158856::GCTG
Gene:: PRR27 (Varview)
Functional Consequence:: inframe_indel,stop_gained,coding_sequence_variant
HGVS:: NC_000004.12:g.70158856_70158857insGCTG, NC_000004.11:g.71024573_71024574insGCTG, NW_013171801.1:g.203442_203443insGCTG, NM_214711.4:c.604_605insGCTG, NM_214711.3:c.604_605insGCTG, NP_999876.2:p.Lys202delinsSerTer

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