SNP Links for Gene (Select 285513) - SNP

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Select item 14914669521.

rs1491466952 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:89275136 (GRCh38)
4:90196287 (GRCh37)
Canonical SPDI:: NC_000004.12:89275133:CTCT:CT
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000004.12:g.89275134CT[1], NC_000004.11:g.90196285CT[1]

Select item 14914089502.

rs1491408950 has merged into rs34213357 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:89281972 (GRCh38)
4:90203123 (GRCh37)
Canonical SPDI:: NC_000004.12:89281962:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:89281962:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:89281962:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:89281962:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:89281962:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:89281962:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:89281962:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:89281962:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:89281962:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:89281962:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.89281972_89281978del, NC_000004.12:g.89281974_89281978del, NC_000004.12:g.89281975_89281978del, NC_000004.12:g.89281976_89281978del, NC_000004.12:g.89281977_89281978del, NC_000004.12:g.89281978del, NC_000004.12:g.89281978dup, NC_000004.12:g.89281977_89281978dup, NC_000004.12:g.89281976_89281978dup, NC_000004.12:g.89281966_89281978dup, NC_000004.11:g.90203123_90203129del, NC_000004.11:g.90203125_90203129del, NC_000004.11:g.90203126_90203129del, NC_000004.11:g.90203127_90203129del, NC_000004.11:g.90203128_90203129del, NC_000004.11:g.90203129del, NC_000004.11:g.90203129dup, NC_000004.11:g.90203128_90203129dup, NC_000004.11:g.90203127_90203129dup, NC_000004.11:g.90203117_90203129dup

Select item 14913949993.

rs1491394999 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT,TATAT,TATATAT,TATATATATATATAT [Show Flanks]
Chromosome:: 4:89270601 (GRCh38)
4:90191753 (GRCh37)
Canonical SPDI:: NC_000004.12:89270601::T,NC_000004.12:89270601::TAT,NC_000004.12:89270601::TATAT,NC_000004.12:89270601::TATATAT,NC_000004.12:89270601::TATATATATATATAT
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.89270601_89270602insT, NC_000004.12:g.89270601_89270602insTAT, NC_000004.12:g.89270601_89270602insTATAT, NC_000004.12:g.89270601_89270602insTATATAT, NC_000004.12:g.89270601_89270602insTATATATATATATAT, NC_000004.11:g.90191752_90191753insT, NC_000004.11:g.90191752_90191753insTAT, NC_000004.11:g.90191752_90191753insTATAT, NC_000004.11:g.90191752_90191753insTATATAT, NC_000004.11:g.90191752_90191753insTATATATATATATAT

Select item 14913261634.

rs1491326163 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:89282595 (GRCh38)
4:90203747 (GRCh37)
Canonical SPDI:: NC_000004.12:89282595::A
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000022/1 (GnomAD)
HGVS:: NC_000004.12:g.89282595_89282596insA, NC_000004.11:g.90203746_90203747insA

Select item 14913242245.

rs1491324224 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 4:89238118 (GRCh38)
4:90159270 (GRCh37)
Canonical SPDI:: NC_000004.12:89238118:C:CCC
Gene:: GPRIN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
CC=0.00002/1 (GnomAD)
HGVS:: NC_000004.12:g.89238119_89238120insCC, NC_000004.11:g.90159270_90159271insCC, XM_005262937.5:c.*9661_*9662insGG, XM_005262937.4:c.*9661_*9662insGG, XM_005262936.4:c.*9661_*9662insGG, XM_005262936.3:c.*9661_*9662insGG, NM_198281.3:c.*9661_*9662insGG, XM_017008043.2:c.*9661_*9662insGG, XM_017008043.1:c.*9661_*9662insGG, XM_017008044.2:c.*9661_*9662insGG, XM_017008044.1:c.*9661_*9662insGG, XM_047450092.1:c.*9661_*9662insGG, XM_047450089.1:c.*9661_*9662insGG, XM_047450091.1:c.*9661_*9662insGG, XM_047450090.1:c.*9661_*9662insGG, XM_047450093.1:c.*9661_*9662insGG

Select item 14912229486.

rs1491222948 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 4:89254129 (GRCh38)
4:90175281 (GRCh37)
Canonical SPDI:: NC_000004.12:89254129::GGTGTGTGTGTGTGTGT
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.89254129_89254130insGGTGTGTGTGTGTGTGT, NC_000004.11:g.90175280_90175281insGGTGTGTGTGTGTGTGT

Select item 14911845007.

rs1491184500 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACACACACCC,ACACACACCC,ACACCC,ACCC [Show Flanks]
Chromosome:: 4:89307297 (GRCh38)
4:90228449 (GRCh37)
Canonical SPDI:: NC_000004.12:89307297:C:CACACACACACACACCC,NC_000004.12:89307297:C:CACACACACCC,NC_000004.12:89307297:C:CACACCC,NC_000004.12:89307297:C:CACCC
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACCC=0./0 (ALFA)
HGVS:: NC_000004.12:g.89307298CA[7]CCC[1], NC_000004.12:g.89307298CA[4]CCC[1], NC_000004.12:g.89307298CA[2]CCC[1], NC_000004.12:g.89307298_89307299insACCC, NC_000004.11:g.90228449CA[7]CCC[1], NC_000004.11:g.90228449CA[4]CCC[1], NC_000004.11:g.90228449CA[2]CCC[1], NC_000004.11:g.90228449_90228450insACCC

Select item 14911836888.

rs1491183688 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 4:89275134 (GRCh38)
4:90196286 (GRCh37)
Canonical SPDI:: NC_000004.12:89275134:T:TGT
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0.00008/1 (ALFA)
TG=0.00003/2 (GnomAD)
HGVS:: NC_000004.12:g.89275135_89275136insGT, NC_000004.11:g.90196286_90196287insGT

Select item 14911110099.

rs1491111009 has merged into rs148319671 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 4:89286089 (GRCh38)
4:90207240 (GRCh37)
Canonical SPDI:: NC_000004.12:89286081:TGTGTGTGTGT:TGTGTGT,NC_000004.12:89286081:TGTGTGTGTGT:TGTGTGTGT,NC_000004.12:89286081:TGTGTGTGTGT:TGTGTGTGTGTGT,NC_000004.12:89286081:TGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:89286081:TGTGTGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0.00094/10 (ALFA)
TG=0.175/7 (GENOME_DK)
HGVS:: NC_000004.12:g.89286083GT[3], NC_000004.12:g.89286083GT[4], NC_000004.12:g.89286083GT[6], NC_000004.12:g.89286083GT[7], NC_000004.12:g.89286083GT[8], NC_000004.11:g.90207234GT[3], NC_000004.11:g.90207234GT[4], NC_000004.11:g.90207234GT[6], NC_000004.11:g.90207234GT[7], NC_000004.11:g.90207234GT[8]

Select item 149110469310.

rs1491104693 has merged into rs60895637 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 4:89241207 (GRCh38)
4:90162358 (GRCh37)
Canonical SPDI:: NC_000004.12:89241206:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:89241206:AAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:89241206:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: GPRIN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0.000411/6 (ALFA)
-=0.05665/253 (Estonian)
-=0.083333/50 (NorthernSweden)
-=0.091481/24214 (TOPMED)
-=0.149561/749 (1000Genomes)
HGVS:: NC_000004.12:g.89241216del, NC_000004.12:g.89241216dup, NC_000004.12:g.89241215_89241216dup, NC_000004.11:g.90162367del, NC_000004.11:g.90162367dup, NC_000004.11:g.90162366_90162367dup, XM_005262937.5:c.*6573del, XM_005262937.5:c.*6573dup, XM_005262937.5:c.*6572_*6573dup, XM_005262937.4:c.*6573del, XM_005262937.4:c.*6573dup, XM_005262937.4:c.*6572_*6573dup, XM_005262936.4:c.*6573del, XM_005262936.4:c.*6573dup, XM_005262936.4:c.*6572_*6573dup, XM_005262936.3:c.*6573del, XM_005262936.3:c.*6573dup, XM_005262936.3:c.*6572_*6573dup, NM_198281.3:c.*6573del, NM_198281.3:c.*6573dup, NM_198281.3:c.*6572_*6573dup, XM_017008043.2:c.*6573del, XM_017008043.2:c.*6573dup, XM_017008043.2:c.*6572_*6573dup, XM_017008043.1:c.*6573del, XM_017008043.1:c.*6573dup, XM_017008043.1:c.*6572_*6573dup, XM_017008044.2:c.*6573del, XM_017008044.2:c.*6573dup, XM_017008044.2:c.*6572_*6573dup, XM_017008044.1:c.*6573del, XM_017008044.1:c.*6573dup, XM_017008044.1:c.*6572_*6573dup, XM_047450092.1:c.*6573del, XM_047450092.1:c.*6573dup, XM_047450092.1:c.*6572_*6573dup, XM_047450089.1:c.*6573del, XM_047450089.1:c.*6573dup, XM_047450089.1:c.*6572_*6573dup, XM_047450091.1:c.*6573del, XM_047450091.1:c.*6573dup, XM_047450091.1:c.*6572_*6573dup, XM_047450090.1:c.*6573del, XM_047450090.1:c.*6573dup, XM_047450090.1:c.*6572_*6573dup, XM_047450093.1:c.*6573del, XM_047450093.1:c.*6573dup, XM_047450093.1:c.*6572_*6573dup

Select item 149107072911.

rs1491070729 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:89303899 (GRCh38)
4:90225050 (GRCh37)
Canonical SPDI:: NC_000004.12:89303898:CA:
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000042/5 (GnomAD)
HGVS:: NC_000004.12:g.89303899_89303900del, NC_000004.11:g.90225050_90225051del

Select item 149105549812.

rs1491055498 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:89304417 (GRCh38)
4:90225568 (GRCh37)
Canonical SPDI:: NC_000004.12:89304415:ATA:A
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.89304417_89304418del, NC_000004.11:g.90225568_90225569del

Select item 149104994313.

rs1491049943 has merged into rs11408492 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:89253030 (GRCh38)
4:90174181 (GRCh37)
Canonical SPDI:: NC_000004.12:89253016:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:89253016:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:89253016:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:89253016:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:89253016:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:89253016:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:89253016:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:89253016:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:89253016:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.363/1818 (1000Genomes)
-=0.5/4 (KOREAN)
HGVS:: NC_000004.12:g.89253030_89253032del, NC_000004.12:g.89253031_89253032del, NC_000004.12:g.89253032del, NC_000004.12:g.89253032dup, NC_000004.12:g.89253031_89253032dup, NC_000004.12:g.89253030_89253032dup, NC_000004.12:g.89253029_89253032dup, NC_000004.12:g.89253027_89253032dup, NC_000004.12:g.89253024_89253032dup, NC_000004.11:g.90174181_90174183del, NC_000004.11:g.90174182_90174183del, NC_000004.11:g.90174183del, NC_000004.11:g.90174183dup, NC_000004.11:g.90174182_90174183dup, NC_000004.11:g.90174181_90174183dup, NC_000004.11:g.90174180_90174183dup, NC_000004.11:g.90174178_90174183dup, NC_000004.11:g.90174175_90174183dup

Select item 149099773714.

rs1490997737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:89282198 (GRCh38)
4:90203349 (GRCh37)
Canonical SPDI:: NC_000004.12:89282197:C:T
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.89282198C>T, NC_000004.11:g.90203349C>T

Select item 149097944615.

rs1490979446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:89288970 (GRCh38)
4:90210121 (GRCh37)
Canonical SPDI:: NC_000004.12:89288969:C:T
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.89288970C>T, NC_000004.11:g.90210121C>T

Select item 149090299016.

rs1490902990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:89247316 (GRCh38)
4:90168467 (GRCh37)
Canonical SPDI:: NC_000004.12:89247315:G:A
Gene:: GPRIN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000468/3 (1000Genomes)
HGVS:: NC_000004.12:g.89247316G>A, NC_000004.11:g.90168467G>A, XM_005262937.5:c.*464C>T, XM_005262937.4:c.*464C>T, XM_005262937.3:c.*464C>T, XM_005262937.2:c.*464C>T, XM_005262937.1:c.*464C>T, XM_005262936.4:c.*464C>T, XM_005262936.3:c.*464C>T, XM_005262936.2:c.*464C>T, XM_005262936.1:c.*464C>T, NM_198281.3:c.*464C>T, NM_198281.2:c.*464C>T, XM_017008043.2:c.*464C>T, XM_017008043.1:c.*464C>T, XM_017008044.2:c.*464C>T, XM_017008044.1:c.*464C>T, XM_047450092.1:c.*464C>T, XM_047450089.1:c.*464C>T, XM_047450091.1:c.*464C>T, XM_047450090.1:c.*464C>T, XM_047450093.1:c.*464C>T

Select item 149082606317.

rs1490826063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:89279859 (GRCh38)
4:90201010 (GRCh37)
Canonical SPDI:: NC_000004.12:89279858:T:C
Gene:: GPRIN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.89279859T>C, NC_000004.11:g.90201010T>C

Select item 149064596118.

rs1490645961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:89247954 (GRCh38)
4:90169105 (GRCh37)
Canonical SPDI:: NC_000004.12:89247953:T:C
Gene:: GPRIN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.89247954T>C, NC_000004.11:g.90169105T>C, XM_005262937.5:c.2157A>G, XM_005262937.4:c.2157A>G, XM_005262937.3:c.2157A>G, XM_005262937.2:c.2157A>G, XM_005262937.1:c.2157A>G, XM_005262936.4:c.2157A>G, XM_005262936.3:c.2157A>G, XM_005262936.2:c.2157A>G, XM_005262936.1:c.2157A>G, NM_198281.3:c.2157A>G, NM_198281.2:c.2157A>G, XM_017008043.2:c.2157A>G, XM_017008043.1:c.2157A>G, XM_017008044.2:c.2157A>G, XM_017008044.1:c.2157A>G, XM_047450092.1:c.2157A>G, XM_047450089.1:c.2157A>G, XM_047450091.1:c.2157A>G, XM_047450090.1:c.2157A>G, XM_047450093.1:c.2157A>G

Select item 149063148019.

rs1490631480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:89248572 (GRCh38)
4:90169723 (GRCh37)
Canonical SPDI:: NC_000004.12:89248571:G:A
Gene:: GPRIN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.89248572G>A, NC_000004.11:g.90169723G>A, XM_005262937.5:c.1539C>T, XM_005262937.4:c.1539C>T, XM_005262937.3:c.1539C>T, XM_005262937.2:c.1539C>T, XM_005262937.1:c.1539C>T, XM_005262936.4:c.1539C>T, XM_005262936.3:c.1539C>T, XM_005262936.2:c.1539C>T, XM_005262936.1:c.1539C>T, NM_198281.3:c.1539C>T, NM_198281.2:c.1539C>T, XM_017008043.2:c.1539C>T, XM_017008043.1:c.1539C>T, XM_017008044.2:c.1539C>T, XM_017008044.1:c.1539C>T, XM_047450092.1:c.1539C>T, XM_047450089.1:c.1539C>T, XM_047450091.1:c.1539C>T, XM_047450090.1:c.1539C>T, XM_047450093.1:c.1539C>T

Select item 149053502920.

rs1490535029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:89295996 (GRCh38)
4:90217147 (GRCh37)
Canonical SPDI:: NC_000004.12:89295995:G:A
Gene:: GPRIN3 (Varview)
Functional Consequence:: 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.89295996G>A, NC_000004.11:g.90217147G>A

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