SNP Links for Gene (Select 134266) - SNP

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Select item 14914740291.

rs1491474029 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:149346714 (GRCh38)
5:148726277 (GRCh37)
Canonical SPDI:: NC_000005.10:149346713:AA:
Gene:: GRPEL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.149346714_149346715del, NC_000005.9:g.148726277_148726278del

Select item 14914487892.

rs1491448789 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTT,TTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 5:149346714 (GRCh38)
5:148726278 (GRCh37)
Canonical SPDI:: NC_000005.10:149346714::TTT,NC_000005.10:149346714::TTTTT,NC_000005.10:149346714::TTTTTTTTT
Gene:: GRPEL2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000005.10:g.149346714_149346715insTTT, NC_000005.10:g.149346714_149346715insTTTTT, NC_000005.10:g.149346714_149346715insTTTTTTTTT, NC_000005.9:g.148726277_148726278insTTT, NC_000005.9:g.148726277_148726278insTTTTT, NC_000005.9:g.148726277_148726278insTTTTTTTTT

Select item 14911744283.

rs1491174428 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:149343684 (GRCh38)
5:148723248 (GRCh37)
Canonical SPDI:: NC_000005.10:149343684:G:GG
Gene:: AFAP1L1 (Varview), GRPEL2 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000076/20 (TOPMED)
G=0.000079/11 (GnomAD)
HGVS:: NC_000005.10:g.149343685dup, NC_000005.9:g.148723248dup

Select item 14909536274.

rs1490953627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:149346796 (GRCh38)
5:148726359 (GRCh37)
Canonical SPDI:: NC_000005.10:149346795:G:A
Gene:: GRPEL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000017/2 (GnomAD)
HGVS:: NC_000005.10:g.149346796G>A, NC_000005.9:g.148726359G>A

Select item 14905913785.

rs1490591378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:149348579 (GRCh38)
5:148728142 (GRCh37)
Canonical SPDI:: NC_000005.10:149348578:G:T
Gene:: GRPEL2 (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149348579G>T, NC_000005.9:g.148728142G>T

Select item 14897829696.

rs1489782969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:149347093 (GRCh38)
5:148726656 (GRCh37)
Canonical SPDI:: NC_000005.10:149347092:C:T
Gene:: GRPEL2 (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_000005.10:g.149347093C>T, NC_000005.9:g.148726656C>T

Select item 14895352707.

rs1489535270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:149345882 (GRCh38)
5:148725445 (GRCh37)
Canonical SPDI:: NC_000005.10:149345881:A:C
Gene:: GRPEL2 (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_000005.10:g.149345882A>C, NC_000005.9:g.148725445A>C

Select item 14894755148.

rs1489475514 has merged into rs34300270 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:149346727 (GRCh38)
5:148726290 (GRCh37)
Canonical SPDI:: NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:149346715:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GRPEL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.149346727_149346755del, NC_000005.10:g.149346728_149346755del, NC_000005.10:g.149346729_149346755del, NC_000005.10:g.149346731_149346755del, NC_000005.10:g.149346732_149346755del, NC_000005.10:g.149346733_149346755del, NC_000005.10:g.149346734_149346755del, NC_000005.10:g.149346735_149346755del, NC_000005.10:g.149346736_149346755del, NC_000005.10:g.149346737_149346755del, NC_000005.10:g.149346738_149346755del, NC_000005.10:g.149346739_149346755del, NC_000005.10:g.149346740_149346755del, NC_000005.10:g.149346741_149346755del, NC_000005.10:g.149346742_149346755del, NC_000005.10:g.149346743_149346755del, NC_000005.10:g.149346744_149346755del, NC_000005.10:g.149346745_149346755del, NC_000005.10:g.149346746_149346755del, NC_000005.10:g.149346747_149346755del, NC_000005.10:g.149346748_149346755del, NC_000005.10:g.149346749_149346755del, NC_000005.10:g.149346750_149346755del, NC_000005.10:g.149346751_149346755del, NC_000005.10:g.149346752_149346755del, NC_000005.10:g.149346753_149346755del, NC_000005.10:g.149346754_149346755del, NC_000005.10:g.149346755del, NC_000005.10:g.149346755dup, NC_000005.10:g.149346754_149346755dup, NC_000005.10:g.149346753_149346755dup, NC_000005.10:g.149346752_149346755dup, NC_000005.10:g.149346751_149346755dup, NC_000005.10:g.149346750_149346755dup, NC_000005.10:g.149346749_149346755dup, NC_000005.10:g.149346748_149346755dup, NC_000005.10:g.149346747_149346755dup, NC_000005.10:g.149346746_149346755dup, NC_000005.10:g.149346745_149346755dup, NC_000005.10:g.149346744_149346755dup, NC_000005.10:g.149346743_149346755dup, NC_000005.10:g.149346742_149346755dup, NC_000005.10:g.149346741_149346755dup, NC_000005.10:g.149346740_149346755dup, NC_000005.10:g.149346739_149346755dup, NC_000005.10:g.149346738_149346755dup, NC_000005.10:g.149346737_149346755dup, NC_000005.10:g.149346735_149346755dup, NC_000005.10:g.149346734_149346755dup, NC_000005.10:g.149346733_149346755dup, NC_000005.10:g.149346732_149346755dup, NC_000005.10:g.149346729_149346755dup, NC_000005.10:g.149346728_149346755dup, NC_000005.10:g.149346721_149346755dup, NC_000005.9:g.148726290_148726318del, NC_000005.9:g.148726291_148726318del, NC_000005.9:g.148726292_148726318del, NC_000005.9:g.148726294_148726318del, NC_000005.9:g.148726295_148726318del, NC_000005.9:g.148726296_148726318del, NC_000005.9:g.148726297_148726318del, NC_000005.9:g.148726298_148726318del, NC_000005.9:g.148726299_148726318del, NC_000005.9:g.148726300_148726318del, NC_000005.9:g.148726301_148726318del, NC_000005.9:g.148726302_148726318del, NC_000005.9:g.148726303_148726318del, NC_000005.9:g.148726304_148726318del, NC_000005.9:g.148726305_148726318del, NC_000005.9:g.148726306_148726318del, NC_000005.9:g.148726307_148726318del, NC_000005.9:g.148726308_148726318del, NC_000005.9:g.148726309_148726318del, NC_000005.9:g.148726310_148726318del, NC_000005.9:g.148726311_148726318del, NC_000005.9:g.148726312_148726318del, NC_000005.9:g.148726313_148726318del, NC_000005.9:g.148726314_148726318del, NC_000005.9:g.148726315_148726318del, NC_000005.9:g.148726316_148726318del, NC_000005.9:g.148726317_148726318del, NC_000005.9:g.148726318del, NC_000005.9:g.148726318dup, NC_000005.9:g.148726317_148726318dup, NC_000005.9:g.148726316_148726318dup, NC_000005.9:g.148726315_148726318dup, NC_000005.9:g.148726314_148726318dup, NC_000005.9:g.148726313_148726318dup, NC_000005.9:g.148726312_148726318dup, NC_000005.9:g.148726311_148726318dup, NC_000005.9:g.148726310_148726318dup, NC_000005.9:g.148726309_148726318dup, NC_000005.9:g.148726308_148726318dup, NC_000005.9:g.148726307_148726318dup, NC_000005.9:g.148726306_148726318dup, NC_000005.9:g.148726305_148726318dup, NC_000005.9:g.148726304_148726318dup, NC_000005.9:g.148726303_148726318dup, NC_000005.9:g.148726302_148726318dup, NC_000005.9:g.148726301_148726318dup, NC_000005.9:g.148726300_148726318dup, NC_000005.9:g.148726298_148726318dup, NC_000005.9:g.148726297_148726318dup, NC_000005.9:g.148726296_148726318dup, NC_000005.9:g.148726295_148726318dup, NC_000005.9:g.148726292_148726318dup, NC_000005.9:g.148726291_148726318dup, NC_000005.9:g.148726284_148726318dup

Select item 14891928769.

rs1489192876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:149350429 (GRCh38)
5:148729992 (GRCh37)
Canonical SPDI:: NC_000005.10:149350428:T:G
Gene:: GRPEL2 (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: 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_000005.10:g.149350429T>G, NC_000005.9:g.148729992T>G

Select item 148863053710.

rs1488630537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149354000 (GRCh38)
5:148733563 (GRCh37)
Canonical SPDI:: NC_000005.10:149353999:T:C
Gene:: GRPEL2 (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.149354000T>C, NC_000005.9:g.148733563T>C, NM_152407.4:c.*2718T>C, NM_152407.3:c.*2718T>C

Select item 148798906511.

rs1487989065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:149345641 (GRCh38)
5:148725204 (GRCh37)
Canonical SPDI:: NC_000005.10:149345640:G:A
Gene:: GRPEL2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000005.10:g.149345641G>A, NC_000005.9:g.148725204G>A

Select item 148786590712.

rs1487865907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:149346490 (GRCh38)
5:148726053 (GRCh37)
Canonical SPDI:: NC_000005.10:149346489:G:A
Gene:: GRPEL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.149346490G>A, NC_000005.9:g.148726053G>A

Select item 148742665113.

rs1487426651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:149346368 (GRCh38)
5:148725931 (GRCh37)
Canonical SPDI:: NC_000005.10:149346367:G:A,NC_000005.10:149346367:G:C
Gene:: GRPEL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.149346368G>A, NC_000005.10:g.149346368G>C, NC_000005.9:g.148725931G>A, NC_000005.9:g.148725931G>C

Select item 148723933714.

rs1487239337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:149349302 (GRCh38)
5:148728865 (GRCh37)
Canonical SPDI:: NC_000005.10:149349301:A:C,NC_000005.10:149349301:A:G
Gene:: GRPEL2 (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.149349302A>C, NC_000005.10:g.149349302A>G, NC_000005.9:g.148728865A>C, NC_000005.9:g.148728865A>G

Select item 148699767415.

rs1486997674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:149353529 (GRCh38)
5:148733092 (GRCh37)
Canonical SPDI:: NC_000005.10:149353528:G:C
Gene:: GRPEL2 (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.149353529G>C, NC_000005.9:g.148733092G>C, NM_152407.4:c.*2247G>C, NM_152407.3:c.*2247G>C

Select item 148662087116.

rs1486620871 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 5:149354120 (GRCh38)
5:148733683 (GRCh37)
Canonical SPDI:: NC_000005.10:149354119:C:
Gene:: GRPEL2 (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.149354120del, NC_000005.9:g.148733683del, NM_152407.4:c.*2838del, NM_152407.3:c.*2838del

Select item 148656146917.

rs1486561469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:149353067 (GRCh38)
5:148732630 (GRCh37)
Canonical SPDI:: NC_000005.10:149353066:T:C
Gene:: GRPEL2 (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.149353067T>C, NC_000005.9:g.148732630T>C, NM_152407.4:c.*1785T>C, NM_152407.3:c.*1785T>C

Select item 148653545518.

rs1486535455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:149354655 (GRCh38)
5:148734218 (GRCh37)
Canonical SPDI:: NC_000005.10:149354654:T:G
Gene:: GRPEL2 (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_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_000005.10:g.149354655T>G, NC_000005.9:g.148734218T>G

Select item 148636198119.

rs1486361981 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCTCACAT [Show Flanks]
Chromosome:: 5:149351829 (GRCh38)
5:148731393 (GRCh37)
Canonical SPDI:: NC_000005.10:149351829:ATGCTCACAT:ATGCTCACATGCTCACAT
Gene:: GRPEL2 (Varview), GRPEL2-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGCTCACATGCTCACAT=0./0 (ALFA)
ATGCTCAC=0.000014/2 (GnomAD)
ATGCTCAC=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.149351832_149351839dup, NC_000005.9:g.148731395_148731402dup, NM_152407.4:c.*550_*557dup, NM_152407.3:c.*550_*557dup

Select item 148560545520.

rs1485605455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:149344186 (GRCh38)
5:148723749 (GRCh37)
Canonical SPDI:: NC_000005.10:149344185:G:C
Gene:: GRPEL2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.149344186G>C, NC_000005.9:g.148723749G>C

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